chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier NORMAL_CAPTURE_ref_count NORMAL_CAPTURE_var_count NORMAL_CAPTURE_VAF TUMOR_CAPTURE_ref_count TUMOR_CAPTURE_var_count TUMOR_CAPTURE_VAF RELAPSE_CAPTURE_ref_count RELAPSE_CAPTURE_var_count RELAPSE_CAPTURE_VAF 1 568840 568840 A T SNP ENSG00000230021 ENST00000440200 human ensembl 70_37 -1 known intronic c.NULL NULL 0.999 - - - no_errors RP5-857K21.4 Clone_based_vega_gene ENSG00000230021 tier2 2637 0 0 752 33 4.20382165605096 1310 0 0 1 1563731 1563731 G A SNP MIB2 ENST00000514234 human ensembl 70_37 +1 novel missense c.1540 p.G514S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - pseudogene:no_stop_codon:bad_bp_length_for_coding_region MIB2 HGNC ENSG00000197530 tier1 197 0 0 194 0 0 168 9 5.06 1 2584750 2584750 T G SNP TTC34 ENST00000401095 human ensembl 70_37 -1 known intronic c.688-7748 e5-7748 0.083 - - - no_errors TTC34 HGNC ENSG00000215912 tier2 272 0 0 400 3 0.744416873449132 322 0 0 1 2716286 2716286 A G SNP TTC34 ENST00000401094 human ensembl 70_37 -1 novel intronic c.1+1050 e0+1050 0.001 - - - no_errors TTC34 HGNC ENSG00000215912 tier4 196 0 0 273 2 0.727272727272727 120 0 0 1 5193665 5193665 G A SNP ENSG00000231510 ENST00000443270 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-42706 NULL 0.001 - - - no_errors RP11-542C10.1 Clone_based_vega_gene ENSG00000231510 tier2 955 0 0 655 482 42.280701754386 406 86 17.4089068825911 1 5893734 5893734 T C SNP ENSG00000216045 ENST00000401226 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-17715 NULL 0.000 - - - no_errors AL356693.1 Clone_based_ensembl_gene ENSG00000216045 tier2 311 0 0 231 159 40.7692307692308 167 29 14.7959183673469 1 6203122 6203122 T A SNP CHD5 ENST00000262450 human ensembl 70_37 -1 known intronic c.2044-457 e14-457 0.012 - - - no_errors CHD5 HGNC ENSG00000116254 tier4 410 0 0 600 2 0.324675324675325 239 0 0 1 7249419 7249419 C A SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known intronic c.303-60132 e5-60132 0.011 - - - no_errors CAMTA1 HGNC ENSG00000171735 tier4 935 0 0 1276 1 0.0783085356303837 440 6 1.34529147982063 1 8691597 8691597 T C SNP RERE ENST00000337907 human ensembl 70_37 -1 known intronic c.326-7158 e2-7158 0.000 - - - no_errors RERE HGNC ENSG00000142599 tier3 483 0 0 770 2 0.259067357512953 286 1 0.346020761245675 1 10129037 10129037 A C SNP UBE4B ENST00000343090 human ensembl 70_37 +1 known intronic c.25-3049 e2-3049 0.006 - - - no_errors UBE4B HGNC ENSG00000130939 tier3 500 0 0 748 2 0.266311584553928 304 1 0.327868852459016 1 11168236 11168236 A C SNP MTOR ENST00000361445 human ensembl 70_37 -1 known splice_site c.7634+2 e56+2 1.000 - - - no_errors MTOR HGNC ENSG00000198793 tier1 534 0 0 771 3 0.387096774193548 350 1 0.284900284900285 1 14661072 14661072 G A SNP ENSG00000234593 ENST00000447908 human ensembl 70_37 -1 known 3_prime_flanking_region c.*14378 NULL 0.333 - - - no_errors RP4-704D23.1 Clone_based_vega_gene ENSG00000234593 tier4 1038 0 0 790 688 46.4550979068197 383 82 17.558886509636 1 15840480 15840480 A C SNP CASP9 ENST00000333868 human ensembl 70_37 -1 known intronic c.418+4125 e2+4125 0.001 - - - no_errors CASP9 HGNC ENSG00000132906 tier4 568 0 0 1045 2 0.191021967526266 328 2 0.606060606060606 1 16842315 16842315 T G SNP LOC100133301 ENST00000601199 human ensembl 70_37 +1 known 5_prime_flanking_region c.-23246 NULL 0.020 - - - no_errors AL355149.3 Clone_based_ensembl_gene ENSG00000268674 tier4 798 0 0 1025 2 0.194741966893866 397 0 0 1 16892295 16892295 C T SNP NBPF1 ENST00000392963 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors NBPF1 HGNC ENSG00000219481 tier1 118 0 0 198 3 1.49253731343284 104 0 0 1 17631816 17631816 C A SNP PADI4 ENST00000375448 human ensembl 70_37 +1 known 5_prime_flanking_region c.-2902 NULL 0.002 - - - no_errors PADI4 HGNC ENSG00000159339 tier4 194 0 0 270 2 0.72202166064982 67 1 1.42857142857143 1 18213682 18213682 C T SNP - - - - - - - - - - - - - - - - - - tier3 655 0 0 455 308 40.3669724770642 306 68 18.1818181818182 1 18741694 18741694 T C SNP IGSF21 ENST00000251296 human ensembl 70_37 +1 known 3_prime_flanking_region c.*36874 NULL 0.012 - - - no_errors IGSF21 HGNC ENSG00000117154 tier4 449 0 0 557 4 0.711743772241993 250 0 0 1 20384817 20384817 A C SNP PLA2G5 ENST00000460175 human ensembl 70_37 +1 known intronic c.NULL NULL 0.007 - - - no_errors PLA2G5 HGNC ENSG00000127472 tier4 960 0 0 609 541 47.0434782608696 385 83 17.7350427350427 1 20444904 20444904 A G SNP PLA2G2D ENST00000375105 human ensembl 70_37 -1 known intronic c.40+1048 e1+1048 0.000 - - - no_errors PLA2G2D HGNC ENSG00000117215 tier3 1004 0 0 1280 3 0.233644859813084 468 0 0 1 22201100 22201100 G T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known splice_region c.3528+9 e27+9 0.000 - - - no_errors HSPG2 HGNC ENSG00000142798 tier3 280 0 0 374 90 19.3965517241379 193 2 1.01522842639594 1 22250794 22250794 C T SNP HSPG2 ENST00000374695 human ensembl 70_37 -1 known intronic c.63+12854 e1+12854 0.115 - - - no_errors HSPG2 HGNC ENSG00000142798 tier3 813 0 0 690 553 44.4891391794047 430 91 17.4664107485605 1 22620904 22620904 A C SNP MIR4418 ENST00000581169 human ensembl 70_37 +1 known 3_prime_flanking_region c.*28111 NULL 0.056 - - - no_errors MIR4418 HGNC ENSG00000266564 tier4 1152 0 0 1726 1 0.0579038795599305 595 3 0.498338870431894 1 23413200 23413200 A G SNP LUZP1 ENST00000302291 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*2188 NULL 0.000 - - - no_errors LUZP1 HGNC ENSG00000169641 tier3 452 0 0 634 2 0.314465408805031 276 0 0 1 23927208 23927208 A C SNP MDS2 ENST00000477916 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors MDS2 HGNC ENSG00000197880 tier4 484 0 0 684 1 0.145985401459854 293 2 0.677966101694915 1 26925680 26925680 T G SNP ENSG00000243905 ENST00000497096 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-5643 NULL 0.014 - - - no_errors Metazoa_SRP RFAM ENSG00000243905 tier3 552 0 0 999 4 0.398803589232303 338 1 0.294985250737463 1 27177576 27177576 A G SNP ZDHHC18 ENST00000374142 human ensembl 70_37 +1 known intronic c.834-44 e6-44 0.009 - - - no_errors ZDHHC18 HGNC ENSG00000204160 tier3 542 0 0 889 5 0.558659217877095 261 1 0.381679389312977 1 29847446 29847446 T G SNP ENSG00000225011 ENST00000515851 human ensembl 70_37 -1 known 5_prime_flanking_region c.-24041 NULL 0.001 - - - no_coding_region:pseudogene RP11-810H18.1 Clone_based_vega_gene ENSG00000225011 tier3 533 0 0 659 3 0.453172205438067 323 0 0 1 30098199 30098199 T G SNP ENSG00000221126 ENST00000408199 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*19193 NULL 0.000 - - - no_errors AC092265.1 Clone_based_ensembl_gene ENSG00000221126 tier3 768 0 0 984 2 0.202839756592292 358 1 0.278551532033426 1 30373442 30373442 T G SNP ENSG00000222787 ENST00000410855 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*15590 NULL 0.000 - - - no_errors AL645944.1 Clone_based_ensembl_gene ENSG00000222787 tier3 423 0 0 476 5 1.03950103950104 213 0 0 1 30746377 30746377 T G SNP ENSG00000231251 ENST00000442774 human ensembl 70_37 +1 known 3_prime_flanking_region c.*46915 NULL 0.014 - - - no_coding_region:pseudogene RP3-357I16.1 Clone_based_vega_gene ENSG00000231251 tier4 645 0 0 831 2 0.239808153477218 321 0 0 1 31845212 31845212 T G SNP FABP3 ENST00000373713 human ensembl 70_37 -1 known intronic c.73+577 e1+577 0.087 - - - no_errors FABP3 HGNC ENSG00000121769 tier3 558 0 0 852 2 0.234192037470726 323 5 1.52439024390244 1 32488805 32488805 C A SNP KHDRBS1 ENST00000327300 human ensembl 70_37 +1 known intronic c.383-7094 e2-7094 0.001 - - - no_errors KHDRBS1 HGNC ENSG00000121774 tier3 1622 0 0 2645 6 0.226244343891403 698 0 0 1 33297719 33297719 T G SNP S100PBP ENST00000373475 human ensembl 70_37 +1 known intronic c.1024+2051 e3+2051 0.001 - - - no_errors S100PBP HGNC ENSG00000116497 tier4 805 0 0 1279 1 0.078125 477 3 0.625 1 34205886 34205886 G A SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known intronic c.2174-951 e15-951 0.008 - - - no_errors CSMD2 HGNC ENSG00000121904 tier3 614 1 0.16260162601626 397 331 45.467032967033 207 58 21.7228464419476 1 34582405 34582405 A G SNP CSMD2 ENST00000373381 human ensembl 70_37 -1 known intronic c.188-27611 e2-27611 0.002 - - - no_errors CSMD2 HGNC ENSG00000121904 tier4 1399 0 0 1864 29 1.53195985208664 661 0 0 1 35488157 35488157 A C SNP ZMYM6 ENST00000357182 human ensembl 70_37 -1 known intronic c.94-2089 e2-2089 0.068 - - - no_errors ZMYM6 HGNC ENSG00000163867 tier4 551 0 0 821 1 0.121654501216545 337 5 1.46198830409357 1 35833787 35833787 T G SNP ZMYM4 ENST00000314607 human ensembl 70_37 +1 known intronic c.841-1843 e6-1843 0.254 - - - no_errors ZMYM4 HGNC ENSG00000146463 tier4 208 0 0 333 2 0.597014925373134 175 0 0 1 37319358 37319358 G A SNP GRIK3 ENST00000373091 human ensembl 70_37 -1 known intronic c.1105-35 e8-35 0.808 - - - no_errors GRIK3 HGNC ENSG00000163873 tier3 1154 1 0.0863557858376511 785 711 47.5267379679144 450 111 19.7860962566845 1 37327082 37327082 T G SNP GRIK3 ENST00000373091 human ensembl 70_37 -1 known intronic c.787-1464 e6-1464 0.000 - - - no_errors GRIK3 HGNC ENSG00000163873 tier3 335 0 0 393 4 1.00755667506297 177 0 0 1 38963318 38963318 C A SNP ENSG00000238063 ENST00000452971 human ensembl 70_37 +1 known 3_prime_flanking_region c.*21162 NULL 0.038 - - - no_errors RP11-329N22.1 Clone_based_vega_gene ENSG00000238063 tier3 1336 2 0.149476831091181 890 681 43.2655654383736 497 114 18.657937806874 1 41985188 41985188 G A SNP HIVEP3 ENST00000247584 human ensembl 70_37 -1 known intronic c.5384-1029 e4-1029 0.001 - - - no_errors HIVEP3 HGNC ENSG00000127124 tier3 700 3 0.426136363636364 512 403 44.0437158469945 249 71 22.1875 1 42255737 42255737 T G SNP HIVEP3 ENST00000372583 human ensembl 70_37 -1 known intronic c.1-89071 e1-89071 0.000 - - - no_errors HIVEP3 HGNC ENSG00000127124 tier4 474 0 0 620 1 0.161030595813205 245 3 1.20967741935484 1 44659511 44659511 A T SNP DMAP1 ENST00000315913 human ensembl 70_37 +1 known 5_prime_flanking_region c.-19915 NULL 0.521 - - - no_errors DMAP1 HGNC ENSG00000178028 tier4 2114 0 0 1646 1371 45.427435387674 633 178 21.8673218673219 1 44823394 44823394 T G SNP RNF220 ENST00000355387 human ensembl 70_37 +1 known 5_prime_flanking_region c.-54376 NULL 0.001 - - - no_errors RNF220 HGNC ENSG00000187147 tier4 1413 0 0 2317 3 0.12914334911752 566 0 0 1 45586556 45586556 G A SNP ZSWIM5 ENST00000359600 human ensembl 70_37 -1 known intronic c.596-32647 e2-32647 0.044 - - - no_errors ZSWIM5 HGNC ENSG00000162415 tier3 1564 0 0 1187 916 43.5361216730038 613 134 17.9384203480589 1 46576507 46576507 A G SNP PIK3R3 ENST00000540385 human ensembl 70_37 -1 known intronic c.245-30085 e2-30085 0.004 - - - no_errors PIK3R3 HGNC ENSG00000117461 tier3 1080 0 0 1768 2 0.112994350282486 599 1 0.166666666666667 1 47460900 47460900 C T SNP CYP4X1 ENST00000538609 human ensembl 70_37 +1 known intronic c.174+33472 e1+33472 0.000 - - - no_errors CYP4X1 HGNC ENSG00000186377 tier4 1079 0 0 1419 43 2.94117647058824 500 2 0.395256916996047 1 47686610 47686610 A G SNP TAL1 ENST00000371883 human ensembl 70_37 -1 known intronic c.548-764 e3-764 0.000 - - - no_errors TAL1 HGNC ENSG00000162367 tier4 764 0 0 1287 2 0.155159038013964 429 0 0 1 49798352 49798352 C A SNP AGBL4 ENST00000371839 human ensembl 70_37 -1 known intronic c.283-86816 e4-86816 0.054 - - - no_errors AGBL4 HGNC ENSG00000186094 tier4 955 0 0 1216 2 0.164203612479475 376 0 0 1 49958860 49958860 C T SNP AGBL4 ENST00000371839 human ensembl 70_37 -1 known intronic c.282+204125 e3+204125 0.018 - - - no_errors AGBL4 HGNC ENSG00000186094 tier4 887 0 0 613 478 43.8130155820348 412 92 18.2539682539683 1 50113501 50113501 C A SNP AGBL4 ENST00000371839 human ensembl 70_37 -1 known intronic c.282+49484 e3+49484 0.325 - - - no_errors AGBL4 HGNC ENSG00000186094 tier4 548 0 0 695 84 10.783055198973 316 0 0 1 52920451 52920451 C A SNP ZCCHC11 ENST00000257177 human ensembl 70_37 -1 known intronic c.3435+3557 e19+3557 0.584 - - - no_errors ZCCHC11 HGNC ENSG00000134744 tier4 584 0 0 875 2 0.227790432801822 377 0 0 1 54005739 54005739 G A SNP GLIS1 ENST00000312233 human ensembl 70_37 -1 known intronic c.796-10114 e2-10114 0.000 - - - no_errors GLIS1 HGNC ENSG00000174332 tier3 303 1 0.328947368421053 216 160 42.5531914893617 167 32 16.0804020100503 1 55550732 55550732 G T SNP USP24 ENST00000294383 human ensembl 70_37 -1 known intronic c.6765+883 e56+883 0.000 - - - no_errors USP24 HGNC ENSG00000162402 tier3 751 0 0 1095 3 0.273224043715847 371 2 0.533333333333333 1 55646109 55646109 A C SNP USP24 ENST00000294383 human ensembl 70_37 -1 known intronic c.325-2304 e2-2304 0.020 - - - no_errors USP24 HGNC ENSG00000162402 tier4 337 0 0 457 1 0.218340611353712 165 2 1.18343195266272 1 56734994 56734994 A C SNP ENSG00000260971 ENST00000569425 human ensembl 70_37 -1 known 5_prime_flanking_region c.-10751 NULL 0.000 - - - no_errors RP11-504A18.1 Clone_based_vega_gene ENSG00000260971 tier3 497 0 0 650 6 0.914634146341463 250 0 0 1 58202395 58202395 T C SNP DAB1 ENST00000371234 human ensembl 70_37 -1 known intronic c.1-87058 e1-87058 0.000 - - - no_errors DAB1 HGNC ENSG00000173406 tier4 1641 0 0 2139 3 0.13986013986014 577 0 0 1 59790413 59790413 T C SNP FGGY ENST00000303721 human ensembl 70_37 +1 known intronic c.201+2991 e1+2991 0.000 - - - no_errors FGGY HGNC ENSG00000172456 tier3 581 0 0 880 2 0.226757369614512 311 2 0.638977635782748 1 60391538 60391538 A G SNP CYP2J2 ENST00000371204 human ensembl 70_37 -1 known intronic c.210+671 e1+671 0.000 - - - no_errors CYP2J2 HGNC ENSG00000134716 tier3 578 0 0 705 3 0.423728813559322 290 1 0.343642611683849 1 62561500 62561500 T G SNP INADL ENST00000371158 human ensembl 70_37 +1 known intronic c.4377+11180 e32+11180 0.000 - - - no_errors INADL HGNC ENSG00000132849 tier4 924 0 0 1236 2 0.161550888529887 421 4 0.941176470588235 1 63494279 63494279 A C SNP ENSG00000229537 ENST00000420285 human ensembl 70_37 -1 known 5_prime_flanking_region c.-17683 NULL 0.000 - - - no_errors RP11-5P4.1 Clone_based_vega_gene ENSG00000229537 tier4 585 0 0 746 2 0.267022696929239 287 0 0 1 65062794 65062794 T G SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known intronic c.411-5695 e4-5695 0.362 - - - no_errors CACHD1 HGNC ENSG00000158966 tier3 629 0 0 939 3 0.318471337579618 249 3 1.19047619047619 1 65287179 65287179 T A SNP RAVER2 ENST00000294428 human ensembl 70_37 +1 known intronic c.1929+6656 e11+6656 0.059 - - - no_errors RAVER2 HGNC ENSG00000162437 tier3 1156 0 0 1625 2 0.122925629993854 616 0 0 1 66362336 66362336 A G SNP PDE4B ENST00000329654 human ensembl 70_37 +1 known intronic c.1-16592 e1-16592 0.000 - - - no_errors PDE4B HGNC ENSG00000184588 tier3 1119 0 0 1470 2 0.135777325186694 497 0 0 1 67362642 67362642 A G SNP WDR78 ENST00000371026 human ensembl 70_37 -1 known intronic c.346-3546 e3-3546 0.412 - - - no_errors WDR78 HGNC ENSG00000152763 tier4 781 0 0 1070 1 0.0932835820895522 429 4 0.92378752886836 1 67728489 67728489 A G SNP IL12RB2 ENST00000262345 human ensembl 70_37 +1 known 5_prime_flanking_region c.-57563 NULL 0.000 - - - no_errors IL12RB2 HGNC ENSG00000081985 tier3 1077 0 0 842 648 43.489932885906 521 94 15.2845528455285 1 67961405 67961405 T C SNP ENSG00000235200 ENST00000230113 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33908 NULL 0.003 - - - no_errors RP4-763G1.2 Clone_based_vega_gene ENSG00000235200 tier4 500 0 0 710 2 0.280898876404494 225 2 0.873362445414847 1 69109510 69109510 A G SNP - - - - - - - - - - - - - - - - - - tier3 1387 0 0 1874 4 0.212992545260916 553 2 0.36036036036036 1 69109514 69109514 A G SNP - - - - - - - - - - - - - - - - - - tier3 1173 0 0 1604 2 0.124455507156192 459 3 0.649350649350649 1 69610886 69610886 T G SNP ENSG00000223883 ENST00000425517 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.000 - - - no_errors RP11-424D14.1 Clone_based_vega_gene ENSG00000223883 tier3 1713 0 0 2515 2 0.079428117553614 795 0 0 1 69614799 69614799 C A SNP ENSG00000223883 ENST00000425517 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.000 - - - no_errors RP11-424D14.1 Clone_based_vega_gene ENSG00000223883 tier3 1147 0 0 1487 3 0.201342281879195 509 4 0.779727095516569 1 71550994 71550994 T A SNP ZRANB2-AS2 ENST00000413421 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors ZRANB2-AS2 HGNC ENSG00000229956 tier3 307 0 0 434 3 0.683371298405467 155 2 1.27388535031847 1 71971777 71971777 A T SNP NEGR1 ENST00000357731 human ensembl 70_37 -1 known intronic c.940+86723 e6+86723 0.184 - - - no_errors NEGR1 HGNC ENSG00000172260 tier4 1560 0 0 1782 250 12.2970978848992 651 0 0 1 72192530 72192530 A G SNP NEGR1 ENST00000357731 human ensembl 70_37 -1 known intronic c.536-28708 e4-28708 0.000 - - - no_errors NEGR1 HGNC ENSG00000172260 tier3 744 0 0 501 418 45.4347826086957 305 75 19.7368421052632 1 73116389 73116389 T G SNP - - - - - - - - - - - - - - - - - - tier3 1229 1 0.0813008130081301 924 722 43.8639125151883 515 139 21.1890243902439 1 73188614 73188614 A T SNP ENSG00000212366 ENST00000391064 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-5162 NULL 0.064 - - - no_errors U6 RFAM ENSG00000212366 tier4 737 0 0 968 4 0.411522633744856 322 1 0.309597523219814 1 74101762 74101762 G A SNP ENSG00000223479 ENST00000424953 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-275A6.1 Clone_based_vega_gene ENSG00000223479 tier4 1121 0 0 1514 2 0.1318391562294 550 0 0 1 74105707 74105707 G A SNP ENSG00000223479 ENST00000424953 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-275A6.1 Clone_based_vega_gene ENSG00000223479 tier3 1724 0 0 1505 597 28.3610451306413 720 0 0 1 74165577 74165577 G C SNP ENSG00000223479 ENST00000424953 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-275A6.1 Clone_based_vega_gene ENSG00000223479 tier3 1237 0 0 860 630 42.2252010723861 461 66 12.3827392120075 1 74452123 74452123 G C SNP LRRIQ3 ENST00000354431 human ensembl 70_37 -1 known 3_prime_flanking_region c.*40374 NULL 0.004 - - - no_errors LRRIQ3 HGNC ENSG00000162620 tier3 1787 0 0 1189 891 42.7543186180422 689 113 14.0897755610973 1 74546749 74546749 T G SNP LRRIQ3 ENST00000354431 human ensembl 70_37 -1 known intronic c.868-6275 e5-6275 0.046 - - - no_errors LRRIQ3 HGNC ENSG00000162620 tier3 1178 0 0 1757 3 0.170357751277683 511 5 0.968992248062015 1 75188531 75188531 C T SNP CRYZ ENST00000340866 human ensembl 70_37 -1 known intronic c.264+271 e2+271 0.000 - - - no_errors CRYZ HGNC ENSG00000116791 tier3 1182 0 0 1382 151 9.8371335504886 582 0 0 1 75667448 75667448 A C SNP SLC44A5 ENST00000370855 human ensembl 70_37 -1 known 3_prime_flanking_region c.*4844 NULL 0.004 - - - no_errors SLC44A5 HGNC ENSG00000137968 tier3 1386 0 0 1896 3 0.157811678064177 464 1 0.21505376344086 1 76422415 76422415 T A SNP ASB17 ENST00000284142 human ensembl 70_37 -1 known 5_prime_flanking_region c.-24439 NULL 0.000 - - - no_errors ASB17 HGNC ENSG00000154007 tier4 1192 0 0 852 704 45.2442159383033 407 106 20.6627680311891 1 79513069 79513069 T G SNP ELTD1 ENST00000370742 human ensembl 70_37 -1 known 5_prime_flanking_region c.-40730 NULL 0.000 - - - no_errors ELTD1 HGNC ENSG00000162618 tier3 1427 0 0 1959 2 0.101988781234064 671 0 0 1 81309173 81309173 G T SNP - - - - - - - - - - - - - - - - - - tier3 1414 0 0 1803 2 0.110497237569061 517 5 0.954198473282443 1 81884594 81884594 A G SNP LPHN2 ENST00000370725 human ensembl 70_37 +1 known intronic c.1-26127 e1-26127 0.484 - - - no_errors LPHN2 HGNC ENSG00000117114 tier3 1086 0 0 722 592 45.0532724505327 431 101 18.984962406015 1 82048127 82048127 G A SNP LPHN2 ENST00000370725 human ensembl 70_37 +1 known intronic c.1+1462 e0+1462 0.691 - - - no_errors LPHN2 HGNC ENSG00000117114 tier3 1839 0 0 2052 273 11.7368873602752 860 0 0 1 82835105 82835105 G T SNP - - - - - - - - - - - - - - - - - - tier3 739 0 0 1069 3 0.279589934762349 359 1 0.273224043715847 1 82894878 82894878 G T SNP - - - - - - - - - - - - - - - - - - tier4 1264 0 0 1647 2 0.121285627653123 492 6 1.20481927710843 1 83026100 83026100 C T SNP - - - - - - - - - - - - - - - - - - tier3 1631 1 0.0612745098039216 1156 1033 47.1689497716895 582 181 23.7221494102228 1 83808887 83808887 A C SNP - - - - - - - - - - - - - - - - - - tier2 765 0 0 1084 2 0.183823529411765 316 5 1.55763239875389 1 84222820 84222820 T C SNP ENSG00000233008 ENST00000417975 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-475O6.1 Clone_based_vega_gene ENSG00000233008 tier3 807 0 0 561 442 44.0677966101695 310 39 11.1747851002865 1 84738520 84738520 G A SNP SAMD13 ENST00000370671 human ensembl 70_37 +1 known 5_prime_flanking_region c.-26780 NULL 0.007 - - - no_errors SAMD13 HGNC ENSG00000203943 tier4 949 1 0.10515247108307 677 539 44.2892358258011 448 75 14.2857142857143 1 84828539 84828539 A C SNP SAMD13 ENST00000454967 human ensembl 70_37 +1 putative intronic c.70-25424 e2-25424 0.002 - - - no_start_codon SAMD13 HGNC ENSG00000203943 tier3 1594 0 0 2258 2 0.0884173297966401 809 0 0 1 85002509 85002509 T G SNP SPATA1 ENST00000431031 human ensembl 70_37 +1 known intronic c.NULL NULL 0.700 - - - no_errors SPATA1 HGNC ENSG00000122432 tier4 1694 0 0 2398 2 0.0832986255726781 803 0 0 1 86296964 86296964 T G SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known intronic c.3681+7304 e43+7304 0.005 - - - no_errors COL24A1 HGNC ENSG00000171502 tier3 1377 0 0 2041 3 0.146771037181996 572 1 0.173310225303293 1 87689962 87689962 C A SNP - - - - - - - - - - - - - - - - - - tier4 1074 0 0 1418 3 0.211118930330753 456 0 0 1 87870533 87870533 A T SNP LOC100505768 ENST00000452509 human ensembl 70_37 -1 known 5_prime_flanking_region c.-33195 NULL 0.002 - - - no_errors RP4-544H6.2 Clone_based_vega_gene ENSG00000227290 tier3 1264 0 0 878 719 44.9937421777222 454 92 16.8498168498169 1 88189708 88189708 T C SNP - - - - - - - - - - - - - - - - - - tier3 673 0 0 898 3 0.332963374028857 283 4 1.3840830449827 1 88509855 88509855 T G SNP - - - - - - - - - - - - - - - - - - tier3 3105 0 0 4463 2 0.0447828034034931 911 0 0 1 88869382 88869382 T C SNP - - - - - - - - - - - - - - - - - - tier4 1016 0 0 1388 3 0.215672178289001 449 2 0.442477876106195 1 90013414 90013414 T G SNP LRRC8B ENST00000330947 human ensembl 70_37 +1 known intronic c.1-20392 e1-20392 0.977 - - - no_errors LRRC8B HGNC ENSG00000197147 tier3 689 0 0 480 460 48.936170212766 266 68 20.3592814371257 1 90447332 90447332 T C SNP ZNF326 ENST00000340281 human ensembl 70_37 +1 known 5_prime_flanking_region c.-13485 NULL 0.000 - - - no_errors ZNF326 HGNC ENSG00000162664 tier3 1203 2 0.16597510373444 929 765 45.159386068477 538 151 21.9158200290276 1 91665147 91665147 C T SNP - - - - - - - - - - - - - - - - - - tier3 724 0 0 494 488 49.6945010183299 379 88 18.8436830835118 1 91879227 91879227 A C SNP HFM1 ENST00000370425 human ensembl 70_37 -1 known 5_prime_flanking_region c.-12588 NULL 0.087 - - - no_errors HFM1 HGNC ENSG00000162669 tier4 754 0 0 1045 2 0.190839694656489 380 0 0 1 92087134 92087134 A C SNP HSP90B3P ENST00000370405 human ensembl 70_37 +1 known 5_prime_flanking_region c.-13434 NULL 0.000 - - - no_coding_region:pseudogene HSP90B3P HGNC ENSG00000203914 tier4 845 0 0 1187 1 0.0841750841750842 415 2 0.478468899521531 1 93474184 93474184 G A SNP FAM69A ENST00000370310 human ensembl 70_37 -1 known 5_prime_flanking_region c.-47198 NULL 0.000 - - - no_errors FAM69A HGNC ENSG00000154511 tier3 904 1 0.110253583241455 848 372 30.4918032786885 540 0 0 1 95386189 95386189 T G SNP CNN3 ENST00000370206 human ensembl 70_37 -1 known intronic c.57+6205 e1+6205 0.000 - - - no_errors CNN3 HGNC ENSG00000117519 tier4 724 0 0 1051 4 0.37914691943128 342 1 0.291545189504373 1 95662019 95662019 A C SNP TMEM56 ENST00000370203 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*4595 NULL 0.000 - - - no_errors TMEM56 HGNC ENSG00000152078 tier3 928 0 0 1343 2 0.148588410104012 438 2 0.454545454545455 1 95900845 95900845 A G SNP FLJ31662 ENST00000424943 human ensembl 70_37 +1 known 5_prime_flanking_region c.-39448 NULL 0.001 - - - no_errors RP4-617C6.1 Clone_based_vega_gene ENSG00000233907 tier4 796 0 0 1083 2 0.184331797235023 389 0 0 1 96545290 96545290 G T SNP - - - - - - - - - - - - - - - - - - tier4 465 0 0 645 2 0.309119010819165 235 0 0 1 97022264 97022264 A G SNP ENSG00000241992 ENST00000460344 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-26501 NULL 0.008 - - - no_errors Metazoa_SRP RFAM ENSG00000241992 tier3 723 0 0 988 4 0.40281973816717 389 1 0.256410256410256 1 97414713 97414713 G T SNP ENSG00000212039 ENST00000390750 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*46365 NULL 0.622 - - - no_errors AL592205.1 Clone_based_ensembl_gene ENSG00000212039 tier3 1184 1 0.08424599831508 806 607 42.9582448690729 454 102 18.2795698924731 1 98074860 98074860 T C SNP DPYD ENST00000370192 human ensembl 70_37 -1 known intronic c.851-14138 e9-14138 0.001 - - - no_errors DPYD HGNC ENSG00000188641 tier3 581 0 0 716 1 0.139470013947001 271 2 0.732600732600733 1 99432336 99432336 T C SNP LPPR5 ENST00000263177 human ensembl 70_37 -1 known intronic c.238-10039 e2-10039 0.000 - - - no_errors LPPR5 Uniprot_genename ENSG00000117598 tier3 598 0 0 738 2 0.27027027027027 323 3 0.920245398773006 1 99745813 99745813 T G SNP LPPR4 ENST00000370185 human ensembl 70_37 +1 known intronic c.223-7708 e2-7708 0.000 - - - no_errors LPPR4 Uniprot_genename ENSG00000117600 tier4 1715 0 0 2430 2 0.082203041512536 754 0 0 1 99798191 99798191 G A SNP LPPR4 ENST00000370185 human ensembl 70_37 +1 known 3_prime_flanking_region c.*25625 NULL 0.000 - - - no_errors LPPR4 Uniprot_genename ENSG00000117600 tier3 621 0 0 884 4 0.45045045045045 342 2 0.581395348837209 1 100447408 100447408 A G SNP SLC35A3 ENST00000370153 human ensembl 70_37 +1 known intronic c.108+11208 e1+11208 0.445 - - - no_errors SLC35A3 HGNC ENSG00000117620 tier4 788 0 0 1273 2 0.156862745098039 460 1 0.216919739696312 1 102410131 102410131 A C SNP OLFM3 ENST00000370103 human ensembl 70_37 -1 known intronic c.69+52173 e1+52173 0.000 - - - no_errors OLFM3 HGNC ENSG00000118733 tier3 530 0 0 713 2 0.27972027972028 195 1 0.510204081632653 1 102424898 102424898 T A SNP OLFM3 ENST00000370103 human ensembl 70_37 -1 known intronic c.69+37406 e1+37406 0.000 - - - no_errors OLFM3 HGNC ENSG00000118733 tier3 1470 0 0 1958 2 0.102040816326531 623 0 0 1 102472276 102472276 A C SNP OLFM3 ENST00000370103 human ensembl 70_37 -1 known 5_prime_flanking_region c.-9904 NULL 0.028 - - - no_errors OLFM3 HGNC ENSG00000118733 tier4 769 0 0 885 1 0.112866817155756 317 2 0.623052959501558 1 102708875 102708875 G A SNP ENSG00000233359 ENST00000447916 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-202K23.1 Clone_based_vega_gene ENSG00000233359 tier4 1321 1 0.0755857898715042 922 788 46.0549386323787 527 125 19.0548780487805 1 103622171 103622171 A C SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known 5_prime_flanking_region c.-48437 NULL 0.002 - - - no_errors COL11A1 HGNC ENSG00000060718 tier4 733 0 0 1052 3 0.28436018957346 314 2 0.632911392405063 1 104602416 104602416 A T SNP LOC100129138 ENST00000418362 human ensembl 70_37 +1 known 5_prime_flanking_region c.-13229 NULL 0.000 - - - no_errors RP11-364B6.1 Clone_based_vega_gene ENSG00000215869 tier4 1816 0 0 2421 2 0.0825082508250825 700 71 9.1849935316947 1 105021704 105021704 G T SNP - - - - - - - - - - - - - - - - - - tier4 685 1 0.145772594752187 901 2 0.221238938053097 328 9 2.65486725663717 1 105155790 105155790 A C SNP - - - - - - - - - - - - - - - - - - tier3 758 0 0 1049 1 0.0950570342205323 341 3 0.869565217391304 1 105682882 105682882 C T SNP - - - - - - - - - - - - - - - - - - tier4 1093 0 0 777 547 41.3141993957704 428 62 12.6530612244898 1 105897059 105897059 T A SNP - - - - - - - - - - - - - - - - - - tier4 701 0 0 507 398 43.9779005524862 318 71 18.2519280205656 1 105906857 105906857 C T SNP - - - - - - - - - - - - - - - - - - tier3 970 1 0.102880658436214 591 487 45.1762523191095 390 90 18.6721991701245 1 106547340 106547340 T A SNP ENSG00000233047 ENST00000429080 human ensembl 70_37 -1 known intronic c.NULL NULL 0.005 - - - no_errors RP11-24P14.1 Clone_based_vega_gene ENSG00000233047 tier4 1003 0 0 1431 17 1.17403314917127 550 0 0 1 106818792 106818792 A C SNP - - - - - - - - - - - - - - - - - - tier4 1175 0 0 839 723 46.257197696737 482 143 22.8070175438596 1 107297580 107297580 T A SNP ENSG00000232551 ENST00000441695 human ensembl 70_37 -1 known 3_prime_flanking_region c.*49516 NULL 0.000 - - - no_coding_region:pseudogene RP11-233E12.2 Clone_based_vega_gene ENSG00000232551 tier4 1146 0 0 878 703 44.4655281467426 480 111 18.7817258883249 1 107502362 107502362 G T SNP - - - - - - - - - - - - - - - - - - tier3 2059 1 0.0485436893203883 2266 290 11.3458528951487 847 1 0.117647058823529 1 107647797 107647797 G A SNP NTNG1 ENST00000370068 human ensembl 70_37 +1 known 5_prime_flanking_region c.-43419 NULL 0.000 - - - no_errors NTNG1 HGNC ENSG00000162631 tier3 989 0 0 1233 22 1.75019888623707 400 80 16.6666666666667 1 108545421 108545421 A G SNP VAV3 ENST00000370056 human ensembl 70_37 -1 known 5_prime_flanking_region c.-37930 NULL 0.004 - - - no_errors VAV3 HGNC ENSG00000134215 tier3 1197 0 0 917 843 47.81622234827 468 108 18.75 1 109823727 109823727 C A SNP PSRC1 ENST00000438534 human ensembl 70_37 -1 known silent c.666 p.V222 0.013 NULL NULL - no_errors PSRC1 HGNC ENSG00000134222 tier1 840 1 0.118906064209275 712 545 43.357199681782 354 108 23.3766233766234 1 111809079 111809079 G C SNP CHIA ENST00000343320 human ensembl 70_37 +1 known 5_prime_flanking_region c.-44011 NULL 0.242 - - - no_errors CHIA HGNC ENSG00000134216 tier4 1226 0 0 1700 2 0.117508813160987 495 0 0 1 112010969 112010969 A C SNP OVGP1 ENST00000369732 human ensembl 70_37 -1 known 5_prime_flanking_region c.-40626 NULL 0.038 - - - no_errors OVGP1 HGNC ENSG00000085465 tier4 1186 0 0 1671 2 0.1194743130227 532 0 0 1 112272431 112272431 C T SNP FAM212B ENST00000357260 human ensembl 70_37 -1 known intronic c.58-2005 e2-2005 0.275 - - - no_errors FAM212B HGNC ENSG00000197852 tier3 347 0 0 274 167 37.8684807256236 207 35 14.4628099173554 1 113213621 113213621 A G SNP CAPZA1 ENST00000263168 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*867 NULL 1.000 - - - no_errors CAPZA1 HGNC ENSG00000116489 tier3 1253 0 0 1918 3 0.156087408949011 662 0 0 1 113610829 113610829 G A SNP LOC100996251 ENST00000421157 human ensembl 70_37 -1 known intronic c.NULL NULL 0.085 - - - no_errors RP11-31F15.2 Clone_based_vega_gene ENSG00000238198 tier4 1894 0 0 1582 1162 42.3469387755102 819 182 18.1818181818182 1 113853040 113853040 A C SNP - - - - - - - - - - - - - - - - - - tier4 324 0 0 395 3 0.753768844221105 225 2 0.881057268722467 1 114822854 114822854 T G SNP ENSG00000232895 ENST00000420156 human ensembl 70_37 +1 known 3_prime_flanking_region c.*17954 NULL 0.162 - - - no_errors RP4-543J13.1 Clone_based_vega_gene ENSG00000232895 tier4 1509 0 0 2349 5 0.212404418011895 451 2 0.435729847494553 1 114868611 114868611 T C SNP - - - - - - - - - - - - - - - - - - tier4 953 0 0 703 519 42.4713584288052 431 70 13.9720558882236 1 115235479 115235479 T G SNP AMPD1 ENST00000520113 human ensembl 70_37 -1 known intronic c.133+578 e2+578 0.024 - - - no_errors AMPD1 HGNC ENSG00000116748 tier4 1011 0 0 1524 2 0.130975769482646 459 0 0 1 115838636 115838636 T A SNP NGF ENST00000369512 human ensembl 70_37 -1 known intronic c.1-2265 e1-2265 0.022 - - - no_errors NGF HGNC ENSG00000134259 tier4 1606 0 0 1040 969 48.2329517172723 566 138 19.6022727272727 1 116268833 116268833 C A SNP CASQ2 ENST00000261448 human ensembl 70_37 -1 known intronic c.738-659 e7-659 0.000 - - - no_errors CASQ2 HGNC ENSG00000118729 tier3 713 0 0 979 3 0.305498981670061 263 5 1.86567164179104 1 117067986 117067986 G T SNP CD58 ENST00000369489 human ensembl 70_37 -1 known intronic c.629-3381 e4-3381 0.020 - - - no_errors CD58 HGNC ENSG00000116815 tier4 660 0 0 921 7 0.754310344827586 323 0 0 1 118178665 118178665 A C SNP LOC100996263 ENST00000425010 human ensembl 70_37 -1 known 5_prime_flanking_region c.-30273 NULL 0.071 - - - no_errors AL157902.3 Clone_based_vega_gene ENSG00000236866 tier4 904 0 0 1227 3 0.24390243902439 383 3 0.77720207253886 1 118644385 118644385 G A SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known silent c.612 p.D204 0.149 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 tier1 769 2 0.259403372243839 543 534 49.4902687673772 325 90 21.6867469879518 1 118702712 118702712 G A SNP SPAG17 ENST00000336338 human ensembl 70_37 -1 known intronic c.88-8720 e2-8720 1.000 - - - no_errors SPAG17 HGNC ENSG00000155761 tier3 779 0 0 518 438 45.7680250783699 331 85 20.4326923076923 1 119477887 119477887 T G SNP TBX15 ENST00000369429 human ensembl 70_37 -1 known intronic c.206-3432 e2-3432 0.000 - - - no_errors TBX15 HGNC ENSG00000092607 tier3 1427 0 0 1936 3 0.154718927282104 662 0 0 1 119713960 119713960 A G SNP ENSG00000231365 ENST00000413531 human ensembl 70_37 +1 known intronic c.NULL NULL 0.152 - - - no_errors RP11-418J17.1 Clone_based_vega_gene ENSG00000231365 tier4 563 0 0 721 2 0.276243093922652 345 3 0.862068965517241 1 120585846 120585846 G T SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known intronic c.74-13236 e2-13236 0.000 - - - no_errors NOTCH2 HGNC ENSG00000134250 tier3 372 0 0 472 2 0.421940928270042 201 2 0.985221674876847 1 120616668 120616668 A C SNP NOTCH2 ENST00000256646 human ensembl 70_37 -1 known 5_prime_flanking_region c.-4648 NULL 0.020 - - - no_errors NOTCH2 HGNC ENSG00000134250 tier3 2415 0 0 3489 2 0.0572901747350329 1402 0 0 1 121354138 121354138 C G SNP ENSG00000224857 ENST00000450546 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31816 NULL 0.000 - - - no_errors AL592494.1 Clone_based_vega_gene ENSG00000224857 tier4 640 0 0 911 2 0.218340611353712 339 0 0 1 121355520 121355520 T C SNP ENSG00000224857 ENST00000450546 human ensembl 70_37 -1 known 5_prime_flanking_region c.-33198 NULL 0.000 - - - no_errors AL592494.1 Clone_based_vega_gene ENSG00000224857 tier4 281 0 0 400 2 0.496277915632754 204 3 1.44927536231884 1 142808369 142808369 A C SNP LOC100996920 ENST00000423385 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.000 - - - no_errors RP11-423O2.5 Clone_based_vega_gene ENSG00000234978 tier3 2415 0 0 3619 2 0.0552181115405853 1350 1 0.073909830007391 1 143136564 143136564 A G SNP ENSG00000232274 ENST00000422129 human ensembl 70_37 -1 known intronic c.NULL NULL 0.206 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232274 tier3 1467 0 0 1755 2 0.113830392714855 703 2 0.283687943262411 1 143407079 143407079 A C SNP ENSG00000185044 ENST00000423249 human ensembl 70_37 -1 known intronic c.NULL NULL 0.049 - - - no_errors BX004987.4 Clone_based_vega_gene ENSG00000185044 tier4 1356 0 0 1700 3 0.176056338028169 626 6 0.949367088607595 1 144045163 144045163 T G SNP SRGAP2B ENST00000467933 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors SRGAP2B HGNC ENSG00000196369 tier3 1194 0 0 1738 2 0.114942528735632 577 0 0 1 144526841 144526841 T A SNP LOC728875 ENST00000411760 human ensembl 70_37 -1 known 5_prime_flanking_region c.-5922 NULL 0.019 - - - no_errors RP11-640M9.1 Clone_based_vega_gene ENSG00000236943 tier4 2703 0 0 3596 2 0.0555864369093941 1029 0 0 1 144526848 144526848 T A SNP LOC728875 ENST00000411760 human ensembl 70_37 -1 known 5_prime_flanking_region c.-5929 NULL 0.023 - - - no_errors RP11-640M9.1 Clone_based_vega_gene ENSG00000236943 tier4 2897 0 0 3926 2 0.0509035377958768 1168 0 0 1 145092664 145092664 T G SNP PDE4DIP ENST00000369348 human ensembl 70_37 -1 known 5_prime_flanking_region c.-16802 NULL 0.000 - - - no_errors PDE4DIP HGNC ENSG00000178104 tier3 949 0 0 1415 4 0.281888653981677 525 4 0.756143667296786 1 147209651 147209651 G A SNP ENSG00000234190 ENST00000426504 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40049 NULL 0.001 - - - no_errors RP11-433J22.3 Clone_based_vega_gene ENSG00000234190 tier3 447 0 0 332 329 49.7730711043873 213 57 21.1111111111111 1 147417040 147417040 T C SNP GPR89B ENST00000314163 human ensembl 70_37 +1 known intronic c.415+828 e5+828 0.000 - - - no_errors GPR89B HGNC ENSG00000188092 tier3 878 0 0 1239 2 0.16116035455278 456 0 0 1 148857589 148857589 A C SNP ENSG00000231448 ENST00000444424 human ensembl 70_37 +1 known intronic c.NULL NULL 0.042 - - - no_coding_region:pseudogene RP11-763B22.9 Clone_based_vega_gene ENSG00000231448 tier3 2155 0 0 2649 4 0.150715900527506 1867 1 0.0535331905781585 1 149285005 149285005 A G SNP FAM91A2 ENST00000424684 human ensembl 70_37 +1 known intronic c.NULL NULL 0.004 - - - no_errors FAM91A2 HGNC ENSG00000226067 tier3 1188 0 0 1823 3 0.164293537787514 737 0 0 1 149306668 149306668 G A SNP ENSG00000233430 ENST00000449024 human ensembl 70_37 -1 known intronic c.NULL NULL 0.003 - - - no_errors RP11-403I13.9 Clone_based_vega_gene ENSG00000233430 tier3 2004 0 0 2880 1 0.0346620450606586 1082 4 0.365296803652968 1 150241785 150241785 T G SNP C1orf54 ENST00000369102 human ensembl 70_37 +1 known intronic c.1+565 e0+565 0.999 - - - no_errors C1orf54 HGNC ENSG00000118292 tier2 898 0 0 1544 3 0.193548387096774 454 0 0 1 151839563 151839563 T C SNP RORC ENST00000392697 human ensembl 70_37 -1 known 5_prime_flanking_region c.-35958 NULL 0.028 - - - no_errors RORC HGNC ENSG00000143365 tier4 765 0 0 1206 3 0.248138957816377 401 0 0 1 151897389 151897389 T G SNP THEM4 ENST00000368814 human ensembl 70_37 -1 known 5_prime_flanking_region c.-15455 NULL 0.012 - - - no_errors THEM4 HGNC ENSG00000159445 tier3 965 0 0 1538 6 0.38860103626943 382 0 0 1 152633649 152633649 G T SNP LCE2B ENST00000368780 human ensembl 70_37 +1 known 5_prime_flanking_region c.-25671 NULL 0.013 - - - no_errors LCE2B HGNC ENSG00000159455 tier3 683 0 0 820 2 0.243013365735115 323 5 1.52439024390244 1 153047173 153047173 T G SNP SPRR2B ENST00000368752 human ensembl 70_37 -1 known intronic c.1-3839 e1-3839 0.015 - - - no_errors SPRR2B HGNC ENSG00000196805 tier4 862 0 0 1192 3 0.25062656641604 408 1 0.244498777506112 1 153845041 153845041 A C SNP GATAD2B ENST00000368655 human ensembl 70_37 -1 known intronic c.1-44217 e1-44217 0.028 - - - no_errors GATAD2B HGNC ENSG00000143614 tier4 1211 11 0.900163666121113 1190 906 43.2045779685265 581 117 16.7621776504298 1 155146640 155146640 A G SNP TRIM46 ENST00000334634 human ensembl 70_37 +1 known intronic c.63+135 e1+135 0.000 - - - no_errors TRIM46 HGNC ENSG00000163462 tier2 361 0 0 707 2 0.282087447108604 221 0 0 1 155538630 155538630 C T SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known 5_prime_flanking_region c.-47320 NULL 0.050 - - - no_errors ASH1L HGNC ENSG00000116539 tier4 1445 0 0 2244 9 0.399290150842946 670 4 0.578871201157742 1 156994524 156994524 G A SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known intronic c.32+19567 e1+19567 0.001 - - - no_errors ARHGEF11 HGNC ENSG00000132694 tier3 981 0 0 1320 3 0.226415094339623 543 2 0.364298724954463 1 157134578 157134578 C A SNP ETV3 ENST00000368192 human ensembl 70_37 -1 known 5_prime_flanking_region c.-28434 NULL 0.000 - - - no_errors ETV3 HGNC ENSG00000117036 tier3 983 0 0 1404 1 0.0711237553342817 484 3 0.616016427104723 1 161280009 161280009 T G SNP MPZ ENST00000360451 human ensembl 70_37 -1 known 5_prime_flanking_region c.-284 NULL 0.051 - - - no_errors MPZ HGNC ENSG00000158887 tier3 338 0 0 527 3 0.566037735849057 232 0 0 1 161820147 161820147 A C SNP ATF6 ENST00000367942 human ensembl 70_37 +1 known intronic c.1320-1365 e11-1365 0.002 - - - no_errors ATF6 HGNC ENSG00000118217 tier4 479 0 0 722 2 0.275862068965517 227 1 0.43859649122807 1 162026226 162026226 A C SNP OLFML2B ENST00000294794 human ensembl 70_37 -1 known 5_prime_flanking_region c.-33006 NULL 0.038 - - - no_errors OLFML2B HGNC ENSG00000162745 tier4 1349 0 0 1753 2 0.113895216400911 630 0 0 1 163114028 163114028 A G SNP RGS5 ENST00000313961 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*3104 NULL 0.000 - - - no_errors RGS5 HGNC ENSG00000143248 tier3 1198 0 0 1635 4 0.243605359317905 460 2 0.432900432900433 1 163199774 163199774 A C SNP RGS5 ENST00000428971 human ensembl 70_37 -1 known intronic c.NULL NULL 0.003 - - - no_errors RP11-267N12.3 Clone_based_vega_gene ENSG00000232995 tier3 1276 0 0 1589 2 0.125707102451289 559 3 0.531914893617021 1 165424249 165424249 A T SNP RXRG ENST00000359842 human ensembl 70_37 -1 known 5_prime_flanking_region c.-10119 NULL 0.038 - - - no_errors RXRG HGNC ENSG00000143171 tier4 449 0 0 599 7 1.15321252059308 213 1 0.467289719626168 1 165465169 165465169 G A SNP LOC400794 ENST00000416424 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-280O1.2 Clone_based_vega_gene ENSG00000237463 tier2 1202 0 0 1170 530 31.1581422692534 541 0 0 1 166061683 166061683 A C SNP FAM78B ENST00000338353 human ensembl 70_37 -1 known intronic c.264-21683 e2-21683 0.000 - - - no_errors FAM78B HGNC ENSG00000188859 tier3 600 0 0 775 3 0.385109114249037 339 0 0 1 166277024 166277024 C T SNP ENSG00000229588 ENST00000425271 human ensembl 70_37 +1 known 5_prime_flanking_region c.-27097 NULL 0.000 - - - no_errors RP11-479J7.2 Clone_based_vega_gene ENSG00000229588 tier3 1185 1 0.08424599831508 741 597 44.5855115758028 588 114 16.1931818181818 1 166570220 166570220 A G SNP FMO9P ENST00000477875 human ensembl 70_37 +1 known 5_prime_flanking_region c.-2692 NULL 0.003 - - - no_errors FMO9P HGNC ENSG00000215834 tier3 1107 0 0 1554 2 0.12853470437018 502 0 0 1 167145213 167145213 T C SNP ENSG00000231605 ENST00000426709 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-277B15.2 Clone_based_vega_gene ENSG00000231605 tier1 616 0 0 932 2 0.213903743315508 349 0 0 1 167468982 167468982 T C SNP CD247 ENST00000362089 human ensembl 70_37 -1 known intronic c.58+18663 e1+18663 0.000 - - - no_errors CD247 HGNC ENSG00000198821 tier4 696 0 0 591 556 48.4742807323452 328 83 20.1946472019465 1 169755352 169755352 G T SNP C1orf112 ENST00000498289 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors C1orf112 HGNC ENSG00000000460 tier3 1481 0 0 2187 7 0.319051959890611 590 4 0.673400673400673 1 170132502 170132502 C T SNP METTL11B ENST00000439373 human ensembl 70_37 +1 known intronic c.330+2668 e2+2668 0.971 - - - no_errors METTL11B HGNC ENSG00000203740 tier2 1305 6 0.45766590389016 1445 181 11.1247695144438 583 2 0.340715502555366 1 170319870 170319870 G A SNP ENSG00000263384 ENST00000579029 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*19484 NULL 0.000 - - - no_errors AL354732.1 Clone_based_ensembl_gene ENSG00000263384 tier3 943 0 0 1099 4 0.36231884057971 371 1 0.268817204301075 1 170641084 170641084 T G SNP PRRX1 ENST00000239461 human ensembl 70_37 +1 known intronic c.241+7484 e1+7484 0.024 - - - no_errors PRRX1 HGNC ENSG00000116132 tier2 948 0 0 1215 4 0.328137817883511 447 7 1.54185022026432 1 170684435 170684435 G A SNP PRRX1 ENST00000239461 human ensembl 70_37 +1 known intronic c.242-4432 e2-4432 0.000 - - - no_errors PRRX1 HGNC ENSG00000116132 tier3 1104 0 0 896 545 37.8209576682859 493 86 14.853195164076 1 171587029 171587029 T G SNP ENSG00000244531 ENST00000483518 human ensembl 70_37 +1 known 5_prime_flanking_region c.-4354 NULL 0.005 - - - no_errors RP3-454G6.2 Clone_based_vega_gene ENSG00000244531 tier4 1096 0 0 1566 3 0.190961171228517 496 1 0.200803212851406 1 171829807 171829807 T G SNP DNM3 ENST00000358155 human ensembl 70_37 +1 known intronic c.161+18850 e1+18850 0.560 - - - no_errors DNM3 HGNC ENSG00000197959 tier4 1436 0 0 2063 4 0.193423597678917 545 1 0.183150183150183 1 173639144 173639144 C T SNP ENSG00000228394 ENST00000453299 human ensembl 70_37 -1 novel intronic c.104-541 e2-541 0.000 - - - no_start_codon:no_stop_codon BX248409.1 Clone_based_ensembl_gene ENSG00000228394 tier2 1582 0 0 2295 3 0.130434782608696 723 0 0 1 176857179 176857179 A G SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known intronic c.3098+28 e18+28 0.000 - - - no_errors ASTN1 HGNC ENSG00000152092 tier3 868 1 0.114942528735632 549 457 45.427435387674 305 110 26.5060240963855 1 177320394 177320394 A C SNP ENSG00000224968 ENST00000451341 human ensembl 70_37 +1 known 5_prime_flanking_region c.-328 NULL 0.004 - - - no_errors RP1-35C21.1 Clone_based_vega_gene ENSG00000224968 tier4 448 0 0 514 1 0.194174757281553 206 2 0.961538461538462 1 177562066 177562066 C T SNP LOC100506128 ENST00000458070 human ensembl 70_37 -1 known intronic c.NULL NULL 0.916 - - - no_errors RP1-35C21.2 Clone_based_vega_gene ENSG00000227579 tier3 1362 0 0 898 780 46.4839094159714 604 88 12.7167630057803 1 177655225 177655225 G T SNP ENSG00000236720 ENST00000427173 human ensembl 70_37 +1 known 5_prime_flanking_region c.-14434 NULL 0.018 - - - no_errors RP11-63B19.1 Clone_based_vega_gene ENSG00000236720 tier3 1102 1 0.0906618313689937 1504 2 0.132802124833997 462 9 1.91082802547771 1 178661504 178661504 C T SNP RALGPS2 ENST00000367635 human ensembl 70_37 +1 known 5_prime_flanking_region c.-84396 NULL 0.001 - - - no_errors RALGPS2 HGNC ENSG00000116191 tier4 1060 1 0.0942507068803016 762 614 44.5896877269426 450 72 13.7931034482759 1 179420586 179420586 G T SNP ENSG00000236539 ENST00000411857 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-179420586 NULL 0.760 - - - no_coding_region:pseudogene RP11-215I23.4 Clone_based_vega_gene ENSG00000236539 tier4 1206 0 0 1604 2 0.12453300124533 513 4 0.773694390715667 1 180210102 180210102 T G SNP LHX4 ENST00000263726 human ensembl 70_37 +1 known intronic c.77-7318 e2-7318 0.000 - - - no_errors LHX4 HGNC ENSG00000121454 tier3 827 0 0 1152 2 0.173310225303293 383 0 0 1 180558530 180558530 C G SNP XPR1 ENST00000367590 human ensembl 70_37 +1 known 5_prime_flanking_region c.-42808 NULL 0.002 - - - no_errors XPR1 HGNC ENSG00000143324 tier3 1068 1 0.0934579439252336 1445 1 0.0691562932226833 489 40 7.56143667296786 1 180961005 180961005 C A SNP STX6 ENST00000258301 human ensembl 70_37 -1 known intronic c.363+1494 e4+1494 0.000 - - - no_errors STX6 HGNC ENSG00000135823 tier3 690 0 0 1033 2 0.192864030858245 270 1 0.3690036900369 1 181040928 181040928 A G SNP IER5 ENST00000367577 human ensembl 70_37 +1 known 5_prime_flanking_region c.-17111 NULL 0.101 - - - no_errors IER5 HGNC ENSG00000162783 tier3 1016 1 0.0983284169124877 1387 27 1.90812720848057 387 62 13.6263736263736 1 181925307 181925307 G T SNP - - - - - - - - - - - - - - - - - - tier4 578 0 0 742 2 0.268817204301075 306 0 0 1 182398764 182398764 C G SNP RGSL1 ENST00000294854 human ensembl 70_37 +1 known 5_prime_flanking_region c.-20537 NULL 0.000 - - - no_errors RGSL1 HGNC ENSG00000121446 tier4 723 0 0 1010 2 0.197433366238894 365 1 0.273224043715847 1 182981336 182981336 A G SNP LAMC1 ENST00000258341 human ensembl 70_37 +1 known 5_prime_flanking_region c.-11516 NULL 0.000 - - - no_errors LAMC1 HGNC ENSG00000135862 tier3 1185 0 0 1635 2 0.122174709835064 511 0 0 1 183460969 183460969 T G SNP SMG7 ENST00000507469 human ensembl 70_37 +1 known intronic c.29+19185 e1+19185 0.020 - - - no_errors SMG7 HGNC ENSG00000116698 tier4 225 0 0 290 1 0.343642611683849 118 2 1.66666666666667 1 184622046 184622046 C A SNP ENSG00000252790 ENST00000516981 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-25022 NULL 0.006 - - - no_errors SNORD112 RFAM ENSG00000252790 tier4 961 0 0 1368 2 0.145985401459854 484 1 0.205338809034908 1 186252960 186252960 A C SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known 5_prime_flanking_region c.-13048 NULL 0.003 - - - no_errors PRG4 HGNC ENSG00000116690 tier4 755 0 0 558 391 41.1578947368421 311 52 14.2465753424658 1 186268207 186268207 A C SNP PRG4 ENST00000445192 human ensembl 70_37 +1 known intronic c.77-1016 e2-1016 0.994 - - - no_errors PRG4 HGNC ENSG00000116690 tier3 851 0 0 1161 2 0.171969045571797 412 2 0.480769230769231 1 187199821 187199821 G A SNP ENSG00000236030 ENST00000458683 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors RP11-108M21.1 Clone_based_vega_gene ENSG00000236030 tier3 1031 0 0 738 540 42.2535211267606 429 109 20.1107011070111 1 187264332 187264332 G T SNP ENSG00000236030 ENST00000458683 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-108M21.1 Clone_based_vega_gene ENSG00000236030 tier4 1054 4 0.376293508936971 1419 19 1.31670131670132 523 18 3.31491712707182 1 188823850 188823850 A T SNP ENSG00000238054 ENST00000414765 human ensembl 70_37 -1 putative 3_prime_flanking_region c.*14758 NULL 0.379 - - - no_errors RP11-316I3.2 Clone_based_vega_gene ENSG00000238054 tier4 1311 0 0 1576 3 0.189873417721519 558 1 0.177935943060498 1 188992564 188992564 G T SNP ENSG00000226486 ENST00000445072 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.180 - - - no_errors RP11-373J16.1 Clone_based_vega_gene ENSG00000226486 tier4 2572 2 0.0776699029126214 2344 1105 32.0197044334975 649 6 0.914634146341463 1 189033451 189033451 A G SNP ENSG00000226486 ENST00000445072 human ensembl 70_37 +1 putative 3_prime_flanking_region c.*27058 NULL 0.000 - - - no_errors RP11-373J16.1 Clone_based_vega_gene ENSG00000226486 tier3 1116 0 0 1425 2 0.140154169586545 476 0 0 1 189197658 189197658 A C SNP - - - - - - - - - - - - - - - - - - tier3 1086 0 0 1394 1 0.0716845878136201 485 3 0.614754098360656 1 190457742 190457742 G A SNP ENSG00000241505 ENST00000417409 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.000 - - - no_errors RP11-161I10.1 Clone_based_vega_gene ENSG00000241505 tier4 739 0 0 919 5 0.541125541125541 340 1 0.291545189504373 1 190759813 190759813 G A SNP LOC440704 ENST00000413356 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors RP11-463J7.2 Clone_based_vega_gene ENSG00000231175 tier3 831 0 0 587 414 41.2761714855434 421 61 12.5514403292181 1 190796926 190796926 T C SNP LOC440704 ENST00000413356 human ensembl 70_37 +1 known 3_prime_flanking_region c.*26138 NULL 0.155 - - - no_errors RP11-463J7.2 Clone_based_vega_gene ENSG00000231175 tier4 883 0 0 1285 3 0.232558139534884 477 0 0 1 191959012 191959012 G A SNP ENSG00000228215 ENST00000430776 human ensembl 70_37 +1 known intronic c.NULL NULL 0.047 - - - no_errors RP11-541F9.2 Clone_based_vega_gene ENSG00000228215 tier4 645 0 0 841 3 0.355029585798817 381 1 0.261780104712042 1 195394278 195394278 G T SNP - - - - - - - - - - - - - - - - - - tier3 1613 0 0 2088 2 0.0956937799043062 597 4 0.665557404326123 1 195732619 195732619 C T SNP - - - - - - - - - - - - - - - - - - tier4 218 0 0 184 131 41.5873015873016 119 31 20.6666666666667 1 196507398 196507398 C A SNP KCNT2 ENST00000294725 human ensembl 70_37 -1 known intronic c.96-45927 e2-45927 0.016 - - - no_errors KCNT2 HGNC ENSG00000162687 tier4 491 0 0 317 281 46.9899665551839 212 65 23.4657039711191 1 196829031 196829031 G T SNP CFHR2 ENST00000367421 human ensembl 70_37 +1 known intronic c.58+39999 e1+39999 0.000 - - - no_errors CFHR2 HGNC ENSG00000080910 tier4 1153 0 0 1528 4 0.261096605744125 506 0 0 1 200544679 200544679 A C SNP KIF14 ENST00000367350 human ensembl 70_37 -1 known intronic c.3566+40 e21+40 0.001 - - - no_errors KIF14 HGNC ENSG00000118193 tier4 1211 0 0 996 793 44.2769402568398 488 67 12.0720720720721 1 201517923 201517923 T G SNP CSRP1 ENST00000340006 human ensembl 70_37 -1 known 5_prime_flanking_region c.-52492 NULL 0.000 - - - no_errors CSRP1 HGNC ENSG00000159176 tier3 1089 0 0 1696 10 0.585480093676815 462 6 1.27931769722814 1 202519450 202519450 A C SNP PPP1R12B ENST00000336894 human ensembl 70_37 +1 known intronic c.2491-12303 e19-12303 0.001 - - - no_errors PPP1R12B HGNC ENSG00000077157 tier3 1226 0 0 1706 2 0.117096018735363 627 0 0 1 203876540 203876540 T G SNP CBX1P3 ENST00000413296 human ensembl 70_37 +1 known 5_prime_flanking_region c.-47228 NULL 0.128 - - - no_coding_region:pseudogene CBX1P3 HGNC ENSG00000237379 tier4 873 0 0 1387 2 0.143988480921526 488 0 0 1 204307405 204307405 C G SNP PLEKHA6 ENST00000272203 human ensembl 70_37 -1 known intronic c.1+21417 e0+21417 0.002 - - - no_errors PLEKHA6 HGNC ENSG00000143850 tier3 541 0 0 755 2 0.263852242744063 283 0 0 1 205646317 205646317 T G SNP SLC45A3 ENST00000367145 human ensembl 70_37 -1 known intronic c.1+3205 e0+3205 0.000 - - - no_errors SLC45A3 HGNC ENSG00000158715 tier3 526 0 0 740 2 0.269541778975741 284 0 0 1 206575757 206575757 T G SNP SRGAP2 ENST00000483628 human ensembl 70_37 +1 known intronic c.NULL NULL 0.005 - - - no_errors SRGAP2 HGNC ENSG00000163486 tier3 987 0 0 1419 1 0.0704225352112676 536 2 0.371747211895911 1 207408299 207408299 T G SNP ENSG00000237074 ENST00000417084 human ensembl 70_37 +1 known 5_prime_flanking_region c.-14113 NULL 0.002 - - - no_errors RP11-6J21.2 Clone_based_vega_gene ENSG00000237074 tier4 688 0 0 980 2 0.203458799593082 408 1 0.244498777506112 1 207967283 207967283 G T SNP CD46 ENST00000469535 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CD46 HGNC ENSG00000117335 tier1 716 1 0.139470013947001 953 2 0.209424083769634 304 8 2.56410256410256 1 208098118 208098118 T C SNP CD34 ENST00000310833 human ensembl 70_37 -1 known 5_prime_flanking_region c.-13693 NULL 0.001 - - - no_errors CD34 HGNC ENSG00000174059 tier3 945 0 0 1348 3 0.22189349112426 441 0 0 1 209150783 209150783 G A SNP LOC100506899 ENST00000453569 human ensembl 70_37 +1 known 3_prime_flanking_region c.*2131 NULL 0.000 - - - no_errors RP5-1051D14.1 Clone_based_vega_gene ENSG00000236950 tier3 900 0 0 1214 2 0.163934426229508 446 0 0 1 210375128 210375128 A G SNP SERTAD4 ENST00000367012 human ensembl 70_37 +1 known 5_prime_flanking_region c.-36178 NULL 0.111 - - - no_errors SERTAD4 HGNC ENSG00000082497 tier4 1384 0 0 1814 2 0.11001100110011 571 0 0 1 210634477 210634477 T A SNP HHAT ENST00000391905 human ensembl 70_37 +1 known intronic c.857-3372 e7-3372 0.002 - - - no_errors HHAT HGNC ENSG00000054392 tier3 1102 0 0 1556 2 0.128369704749679 497 0 0 1 211349235 211349235 G A SNP KCNH1 ENST00000271751 human ensembl 70_37 -1 known 5_prime_flanking_region c.-41948 NULL 0.001 - - - no_errors KCNH1 HGNC ENSG00000143473 tier3 857 0 0 612 561 47.7853492333901 365 106 22.5053078556263 1 211642829 211642829 A C SNP ENSG00000223649 ENST00000417794 human ensembl 70_37 +1 known 5_prime_flanking_region c.-22768 NULL 0.003 - - - no_errors RP11-359E8.3 Clone_based_vega_gene ENSG00000223649 tier4 798 0 0 1248 6 0.47808764940239 375 5 1.31578947368421 1 212097006 212097006 T C SNP ENSG00000233626 ENST00000416056 human ensembl 70_37 +1 known 5_prime_flanking_region c.-12585 NULL 0.014 - - - no_coding_region:pseudogene RP11-565J7.1 Clone_based_vega_gene ENSG00000233626 tier3 270 0 0 445 4 0.89086859688196 154 2 1.28205128205128 1 212800125 212800125 G T SNP ENSG00000235862 ENST00000427949 human ensembl 70_37 -1 known 5_prime_flanking_region c.-12 NULL 0.005 - - - no_errors RP11-338C15.5 Clone_based_vega_gene ENSG00000235862 tier2 887 0 0 1371 4 0.290697674418605 390 4 1.01522842639594 1 213790987 213790987 A T SNP ENSG00000221026 ENST00000408099 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-7804 NULL 0.000 - - - no_errors AL592063.1 Clone_based_ensembl_gene ENSG00000221026 tier3 1473 0 0 1013 855 45.7463884430177 521 113 17.8233438485804 1 214404395 214404395 A T SNP - - - - - - - - - - - - - - - - - - tier3 1292 1 0.0773395204949729 944 784 45.3703703703704 569 134 19.0611664295875 1 214766094 214766094 A C SNP CENPF ENST00000366955 human ensembl 70_37 +1 known 5_prime_flanking_region c.-21004 NULL 0.210 - - - no_errors CENPF HGNC ENSG00000117724 tier4 958 0 0 1455 3 0.205761316872428 364 1 0.273972602739726 1 214962591 214962591 G A SNP - - - - - - - - - - - - - - - - - - tier3 936 0 0 858 410 32.3089046493302 513 2 0.388349514563107 1 215323430 215323430 G T SNP KCNK2 ENST00000444842 human ensembl 70_37 +1 known intronic c.476-19112 e4-19112 0.000 - - - no_errors KCNK2 HGNC ENSG00000082482 tier4 804 1 0.124223602484472 501 441 46.7656415694592 335 60 15.1898734177215 1 215373103 215373103 T C SNP KCNK2 ENST00000444842 human ensembl 70_37 +1 known intronic c.963+4668 e6+4668 0.000 - - - no_errors KCNK2 HGNC ENSG00000082482 tier3 1267 1 0.0788643533123028 824 662 44.5491251682369 430 75 14.8514851485149 1 215768815 215768815 T G SNP KCTD3 ENST00000259154 human ensembl 70_37 +1 known splice_site c.933+2 e10+2 1.000 - - - no_errors KCTD3 HGNC ENSG00000136636 tier1 894 0 0 1229 4 0.32441200324412 383 5 1.28865979381443 1 215795241 215795241 T G SNP USH2A ENST00000366943 human ensembl 70_37 -1 known 3_prime_flanking_region c.*3882 NULL 0.000 - - - no_errors USH2A HGNC ENSG00000042781 tier2 1586 0 0 2315 2 0.0863185153215365 813 4 0.488400488400488 1 217591051 217591051 G T SNP GPATCH2 ENST00000366935 human ensembl 70_37 -1 known 3_prime_flanking_region c.*13436 NULL 0.003 - - - no_errors GPATCH2 HGNC ENSG00000092978 tier3 934 0 0 1169 153 11.5733736762481 574 2 0.347222222222222 1 218373625 218373625 G A SNP - - - - - - - - - - - - - - - - - - tier3 1062 0 0 772 626 44.7782546494993 471 95 16.7844522968198 1 218708967 218708967 G T SNP C1orf143 ENST00000491260 human ensembl 70_37 +1 putative 3_prime_flanking_region c.*9647 NULL 0.001 - - - no_errors C1orf143 HGNC ENSG00000228208 tier4 1770 0 0 2538 2 0.0787091696182605 364 2 0.543478260869565 1 218909736 218909736 A C SNP - - - - - - - - - - - - - - - - - - tier3 1637 0 0 2132 8 0.373657169546941 731 0 0 1 219002624 219002624 C T SNP - - - - - - - - - - - - - - - - - - tier4 810 1 0.123304562268804 603 394 39.518555667001 319 71 18.2051282051282 1 219952278 219952278 G A SNP SLC30A10 ENST00000484239 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors SLC30A10 HGNC ENSG00000196660 tier3 1427 1 0.0699790062981106 2047 27 1.30057803468208 583 154 20.7827260458839 1 219954607 219954607 A C SNP SLC30A10 ENST00000484239 human ensembl 70_37 -1 known intronic c.NULL NULL 0.002 - - - no_errors SLC30A10 HGNC ENSG00000196660 tier4 255 0 0 391 2 0.50761421319797 194 0 0 1 220361628 220361628 G A SNP RAB3GAP2 ENST00000358951 human ensembl 70_37 -1 known intronic c.1779+1417 e17+1417 0.000 - - - no_errors RAB3GAP2 HGNC ENSG00000118873 tier3 1610 0 0 2400 2 0.0832292967124428 825 0 0 1 220728592 220728592 T G SNP MARK1 ENST00000366917 human ensembl 70_37 +1 known intronic c.52-24104 e2-24104 0.040 - - - no_errors MARK1 HGNC ENSG00000116141 tier3 1347 0 0 1899 3 0.157728706624606 540 2 0.3690036900369 1 221470322 221470322 A T SNP C1orf140 ENST00000434398 human ensembl 70_37 -1 known 3_prime_flanking_region c.*35659 NULL 0.001 - - - no_errors RP11-421L10.1 Clone_based_vega_gene ENSG00000234754 tier4 1003 0 0 1298 2 0.153846153846154 514 0 0 1 221627890 221627890 T C SNP - - - - - - - - - - - - - - - - - - tier4 1754 9 0.509915014164306 2426 80 3.19106501794974 562 4 0.706713780918728 1 222083162 222083162 G C SNP ENSG00000238042 ENST00000433576 human ensembl 70_37 -1 known intronic c.NULL NULL 0.011 - - - no_errors RP11-815M8.1 Clone_based_vega_gene ENSG00000238042 tier3 545 0 0 716 4 0.554785020804438 279 1 0.357142857142857 1 222452323 222452323 T G SNP ENSG00000236230 ENST00000416510 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-400N13.1 Clone_based_vega_gene ENSG00000236230 tier3 1164 0 0 1550 2 0.128783000643915 450 4 0.881057268722467 1 222505914 222505914 C T SNP ENSG00000236230 ENST00000416510 human ensembl 70_37 -1 known intronic c.NULL NULL 0.006 - - - no_errors RP11-400N13.1 Clone_based_vega_gene ENSG00000236230 tier4 1271 0 0 1701 3 0.175849941383353 514 1 0.192678227360308 1 223036314 223036314 A C SNP DISP1 ENST00000495684 human ensembl 70_37 +1 known intronic c.NULL NULL 0.017 - - - no_errors DISP1 HGNC ENSG00000154309 tier4 1574 0 0 1153 998 46.3970246397025 598 164 21.4099216710183 1 223079464 223079464 T A SNP DISP1 ENST00000360254 human ensembl 70_37 +1 known intronic c.1-22308 e1-22308 0.000 - - - no_errors DISP1 HGNC ENSG00000154309 tier3 818 0 0 1125 4 0.354295837023915 377 3 0.789473684210526 1 223488650 223488650 A C SNP SUSD4 ENST00000343846 human ensembl 70_37 -1 known intronic c.149-22657 e2-22657 0.013 - - - no_errors SUSD4 HGNC ENSG00000143502 tier4 555 0 0 813 2 0.245398773006135 304 1 0.327868852459016 1 224245935 224245935 C T SNP ENSG00000229930 ENST00000414742 human ensembl 70_37 -1 known 5_prime_flanking_region c.-23177 NULL 0.101 - - - no_coding_region:pseudogene RP11-504P24.5 Clone_based_vega_gene ENSG00000229930 tier4 299 0 0 380 56 12.8440366972477 204 0 0 1 224797957 224797957 T G SNP CNIH3 ENST00000478120 human ensembl 70_37 +1 known intronic c.NULL NULL 0.031 - - - no_errors CNIH3 HGNC ENSG00000143786 tier4 1120 1 0.0892060660124889 859 729 45.8779106356199 463 126 21.3921901528014 1 226237507 226237507 T G SNP H3F3A ENST00000366813 human ensembl 70_37 +1 known 5_prime_flanking_region c.-14546 NULL 0.000 - - - no_errors H3F3A HGNC ENSG00000163041 tier3 794 0 0 1223 3 0.244698205546493 406 1 0.244498777506112 1 226336751 226336751 A C SNP ACBD3 ENST00000366812 human ensembl 70_37 -1 known intronic c.1376-2229 e8-2229 0.000 - - - no_errors ACBD3 HGNC ENSG00000182827 tier3 852 0 0 1462 6 0.408441116405718 501 1 0.199203187250996 1 226340986 226340986 A G SNP ACBD3 ENST00000366812 human ensembl 70_37 -1 known intronic c.1091-666 e7-666 0.448 - - - no_errors ACBD3 HGNC ENSG00000182827 tier3 1679 0 0 2812 3 0.106571936056838 858 0 0 1 227303215 227303215 G A SNP CDC42BPA ENST00000334218 human ensembl 70_37 -1 known intronic c.1648-2601 e13-2601 0.000 - - - no_errors CDC42BPA HGNC ENSG00000143776 tier4 731 0 0 1057 5 0.468603561387067 308 0 0 1 229899334 229899334 C T SNP - - - - - - - - - - - - - - - - - - tier4 702 0 0 962 2 0.207253886010363 333 1 0.29940119760479 1 230493390 230493390 C T SNP PGBD5 ENST00000321327 human ensembl 70_37 -1 known intronic c.422-323 e4-323 0.006 - - - no_errors PGBD5 HGNC ENSG00000177614 tier3 413 0 0 387 182 31.9859402460457 195 0 0 1 231413267 231413267 A C SNP GNPAT ENST00000366647 human ensembl 70_37 +1 known missense c.2022 p.K674N 0.924 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GNPAT HGNC ENSG00000116906 tier1 571 0 0 891 2 0.223713646532438 275 0 0 1 231555738 231555738 G C SNP EGLN1 ENST00000366641 human ensembl 70_37 -1 known intronic c.891+1006 e1+1006 0.000 - - - no_errors EGLN1 HGNC ENSG00000135766 tier3 765 0 0 1109 3 0.269784172661871 351 2 0.563380281690141 1 232285723 232285723 G A SNP ENSG00000235152 ENST00000428673 human ensembl 70_37 +1 known 5_prime_flanking_region c.-10114 NULL 0.000 - - - no_errors RP5-865N13.2 Clone_based_vega_gene ENSG00000235152 tier3 1356 1 0.0736919675755343 948 749 44.1367118444313 556 72 11.4467408585056 1 232538930 232538930 C G SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known intronic c.4940+264 e19+264 0.000 - - - no_errors SIPA1L2 HGNC ENSG00000116991 tier3 184 0 0 129 93 41.8918918918919 94 14 12.962962962963 1 233886344 233886344 C T SNP - - - - - - - - - - - - - - - - - - tier3 1343 0 0 942 738 43.9024390243902 594 126 17.3553719008264 1 234594634 234594634 C T SNP TARBP1 ENST00000040877 human ensembl 70_37 -1 known intronic c.1632+342 e8+342 0.000 - - - no_errors TARBP1 HGNC ENSG00000059588 tier4 564 0 0 749 117 13.5103926096998 407 0 0 1 234907409 234907409 A G SNP LOC100506810 ENST00000437601 human ensembl 70_37 +1 known 3_prime_flanking_region c.*40019 NULL 0.002 - - - no_errors RP4-781K5.8 Clone_based_vega_gene ENSG00000227630 tier3 1112 0 0 1687 2 0.118413262285376 535 4 0.740740740740741 1 235048691 235048691 A C SNP ENSG00000237520 ENST00000423963 human ensembl 70_37 +1 putative 5_prime_flanking_region c.-44287 NULL 0.000 - - - no_errors RP11-443B7.2 Clone_based_vega_gene ENSG00000237520 tier3 777 0 0 1225 2 0.16273393002441 336 1 0.29673590504451 1 235934568 235934568 C A SNP LYST ENST00000389793 human ensembl 70_37 -1 known intronic c.5785-971 e18-971 0.000 - - - no_errors LYST HGNC ENSG00000143669 tier3 1222 0 0 1864 3 0.160599571734475 594 2 0.335570469798658 1 236491279 236491279 G A SNP ERO1LB ENST00000354619 human ensembl 70_37 -1 known 5_prime_flanking_region c.-46196 NULL 0.012 - - - no_errors ERO1LB HGNC ENSG00000086619 tier3 357 0 0 661 2 0.301204819277108 268 1 0.371747211895911 1 237236308 237236308 C T SNP RYR2 ENST00000366574 human ensembl 70_37 +1 known intronic c.48+30439 e1+30439 0.000 - - - no_errors RYR2 HGNC ENSG00000198626 tier3 1369 0 0 952 752 44.131455399061 494 94 15.9863945578231 1 242073142 242073142 C G SNP BECN1P1 ENST00000356052 human ensembl 70_37 +1 known 5_prime_flanking_region c.-47900 NULL 0.005 - - - no_coding_region:pseudogene BECN1P1 HGNC ENSG00000196289 tier4 2606 0 0 2109 2010 48.7509095318943 831 211 20.1913875598086 1 245012861 245012861 C T SNP HNRNPU-AS1 ENST00000475997 human ensembl 70_37 -1 known intronic c.NULL NULL 0.013 - - - no_errors HNRNPU-AS1 HGNC ENSG00000188206 tier3 461 0 0 350 305 46.5648854961832 330 66 16.5 1 245368936 245368936 T C SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known intronic c.465+48951 e2+48951 0.000 - - - no_errors KIF26B HGNC ENSG00000162849 tier3 857 0 0 1338 2 0.149253731343284 410 1 0.24330900243309 1 245818105 245818105 G A SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known intronic c.2258+8523 e10+8523 0.063 - - - no_errors KIF26B HGNC ENSG00000162849 tier3 795 1 0.12531328320802 602 441 42.200956937799 355 95 21.1111111111111 1 245845740 245845740 A C SNP KIF26B ENST00000407071 human ensembl 70_37 +1 known intronic c.2259-1795 e11-1795 0.091 - - - no_errors KIF26B HGNC ENSG00000162849 tier3 936 0 0 1441 2 0.138504155124654 513 0 0 1 245998420 245998420 T G SNP SMYD3 ENST00000388985 human ensembl 70_37 -1 known intronic c.1076+23378 e10+23378 0.018 - - - no_errors SMYD3 HGNC ENSG00000185420 tier4 1095 0 0 1486 2 0.134138162307176 431 3 0.680272108843537 1 247185913 247185913 A T SNP ZNF670 ENST00000465049 human ensembl 70_37 -1 known intronic c.4-22537 e2-22537 0.001 - - - no_errors ZNF670 HGNC ENSG00000135747 tier3 1143 0 0 1719 2 0.116211504938989 546 2 0.363636363636364 2 364312 364312 T G SNP ENSG00000236856 ENST00000431911 human ensembl 70_37 +1 known 5_prime_flanking_region c.-24100 NULL 0.197 - - - no_errors AC105393.1 Clone_based_vega_gene ENSG00000236856 tier2 2666 25 0.929022668153103 3375 30 0.880798590722255 1118 49 4.18088737201365 2 2337018 2337018 T A SNP MYT1L ENST00000399161 human ensembl 70_37 -1 known 5_prime_flanking_region c.-353469 NULL 0.000 - - - no_errors MYT1L HGNC ENSG00000186487 tier2 1034 0 0 1155 3 0.232198142414861 404 2 0.45045045045045 2 3620894 3620894 C T SNP RNASEH1 ENST00000315212 human ensembl 70_37 -1 known 5_prime_flanking_region c.-15044 NULL 0.039 - - - no_errors RNASEH1 HGNC ENSG00000171865 tier4 1712 0 0 1095 898 45.057701956849 607 95 13.5135135135135 2 4270288 4270288 G T SNP ENSG00000215960 ENST00000401141 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*5730 NULL 0.002 - - - no_errors AC068292.1 Clone_based_ensembl_gene ENSG00000215960 tier4 1547 0 0 1933 3 0.15495867768595 804 4 0.495049504950495 2 4324081 4324081 T C SNP ENSG00000215960 ENST00000401141 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-47973 NULL 0.000 - - - no_errors AC068292.1 Clone_based_ensembl_gene ENSG00000215960 tier2 1230 0 0 684 649 48.6506746626687 438 112 20.3636363636364 2 6588164 6588164 G A SNP ENSG00000226488 ENST00000436082 human ensembl 70_37 +1 known 5_prime_flanking_region c.-47971 NULL 0.006 - - - no_errors AC021021.2 Clone_based_vega_gene ENSG00000226488 tier2 1302 1 0.0767459708365311 905 740 44.9848024316109 466 85 15.426497277677 2 9925953 9925953 T G SNP LOC100996549 ENST00000474667 human ensembl 70_37 -1 known 5_prime_flanking_region c.-15483 NULL 0.000 - - - no_errors RP11-521D12.5 Clone_based_vega_gene ENSG00000243491 tier2 1170 0 0 1681 2 0.118764845605701 492 0 0 2 9962787 9962787 G T SNP TAF1B ENST00000263663 human ensembl 70_37 +1 known 5_prime_flanking_region c.-20884 NULL 0.000 - - - no_errors TAF1B HGNC ENSG00000115750 tier4 1548 0 0 2074 4 0.192400192400192 680 0 0 2 10190023 10190023 A C SNP KLF11 ENST00000305883 human ensembl 70_37 +1 known intronic c.1258+1301 e3+1301 0.002 - - - no_errors KLF11 HGNC ENSG00000172059 tier2 964 0 0 1506 1 0.06635700066357 467 3 0.638297872340425 2 10650261 10650261 G A SNP - - - - - - - - - - - - - - - - - - tier4 746 0 0 1015 7 0.68359375 364 2 0.546448087431694 2 10726285 10726285 T G SNP NOL10 ENST00000381685 human ensembl 70_37 -1 known intronic c.1844+2884 e19+2884 0.000 - - - no_errors NOL10 HGNC ENSG00000115761 tier4 1044 0 0 1610 2 0.124069478908189 458 2 0.434782608695652 2 12747785 12747785 T A SNP LOC100506457 ENST00000412294 human ensembl 70_37 +1 known 3_prime_flanking_region c.*29311 NULL 0.000 - - - no_errors AC096559.1 Clone_based_vega_gene ENSG00000224184 tier4 1311 0 0 895 641 41.6775032509753 509 102 16.6939443535188 2 13403179 13403179 T A SNP - - - - - - - - - - - - - - - - - - tier2 1751 0 0 2334 3 0.128314798973482 768 0 0 2 14176454 14176454 T A SNP LINC00276 ENST00000417751 human ensembl 70_37 -1 known intronic c.NULL NULL 0.035 - - - no_errors LINC00276 HGNC ENSG00000230448 tier2 1010 0 0 681 510 42.8211586901763 421 79 15.8 2 15687021 15687021 A C SNP NBAS ENST00000281513 human ensembl 70_37 -1 known intronic c.379+4596 e6+4596 0.000 - - - no_errors NBAS HGNC ENSG00000151779 tier4 585 0 0 887 4 0.448430493273543 303 1 0.328947368421053 2 15964194 15964194 A C SNP RNU5E-7P ENST00000365290 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40865 NULL 0.948 - - - no_errors RNU5E-7P HGNC ENSG00000202160 tier2 528 0 0 725 2 0.274725274725275 268 1 0.371747211895911 2 16442749 16442749 A C SNP ENSG00000231266 ENST00000439745 human ensembl 70_37 -1 known 5_prime_flanking_region c.-33287 NULL 0.000 - - - no_errors AC010745.3 Clone_based_vega_gene ENSG00000231266 tier2 391 0 0 479 5 1.03305785123967 206 1 0.483091787439614 2 16771532 16771532 T C SNP FAM49A ENST00000355549 human ensembl 70_37 -1 known intronic c.1-2135 e1-2135 0.000 - - - no_errors FAM49A HGNC ENSG00000197872 tier2 858 0 0 1217 3 0.245901639344262 452 0 0 2 18989226 18989226 A T SNP ENSG00000224626 ENST00000431697 human ensembl 70_37 +1 known 3_prime_flanking_region c.*20208 NULL 0.050 - - - no_errors AC106053.1 Clone_based_vega_gene ENSG00000224626 tier4 1272 1 0.0785545954438335 1064 464 30.3267973856209 576 2 0.344827586206897 2 19743540 19743540 G T SNP - - - - - - - - - - - - - - - - - - tier2 969 1 0.102880658436214 1222 2 0.163398692810458 421 9 2.06896551724138 2 21119358 21119358 G A SNP - - - - - - - - - - - - - - - - - - tier2 593 1 0.168350168350168 400 317 44.2119944211994 202 47 18.8755020080321 2 21658473 21658473 T C SNP ENSG00000233005 ENST00000435237 human ensembl 70_37 +1 known intronic c.NULL NULL 0.009 - - - no_errors AC067959.1 Clone_based_vega_gene ENSG00000233005 tier4 449 0 0 581 3 0.513698630136986 201 0 0 2 22244966 22244966 C T SNP ENSG00000231200 ENST00000450551 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors AC068490.2 Clone_based_vega_gene ENSG00000231200 tier2 888 0 0 1121 3 0.266666666666667 483 0 0 2 22400243 22400243 G A SNP ENSG00000231200 ENST00000450551 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors AC068490.2 Clone_based_vega_gene ENSG00000231200 tier2 1445 0 0 958 758 44.1724941724942 567 87 13.2218844984802 2 23673561 23673561 T C SNP KLHL29 ENST00000486442 human ensembl 70_37 +1 known intronic c.1-24869 e1-24869 0.001 - - - no_errors KLHL29 HGNC ENSG00000119771 tier2 1269 0 0 1013 468 31.6002700877785 542 0 0 2 25441298 25441298 C T SNP POMC ENST00000264708 human ensembl 70_37 -1 known 5_prime_flanking_region c.-53657 NULL 0.002 - - - no_errors POMC HGNC ENSG00000115138 tier4 465 0 0 364 293 44.5966514459665 246 42 14.4827586206897 2 25457242 25457242 C T SNP DNMT3A ENST00000264709 human ensembl 70_37 -1 known missense c.2645 p.R882H 1.000 NULL pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP - no_errors DNMT3A HGNC ENSG00000119772 tier1 293 0 0 219 211 49.0697674418605 171 41 19.3396226415094 2 25457242 25457242 C T SNP DNMT3A ENST00000264709 human ensembl 70_37 -1 known missense c.2645 p.R882H 1.000 NULL pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP - no_errors DNMT3A HGNC ENSG00000119772 tier1 507 0 0 317 311 49.5222929936306 298 86 22.3958333333333 2 25859365 25859365 A G SNP DTNB ENST00000406818 human ensembl 70_37 -1 known intronic c.148+2518 e2+2518 0.003 - - - no_errors DTNB HGNC ENSG00000138101 tier2 788 0 0 1147 4 0.347523892267593 289 5 1.70068027210884 2 26426318 26426318 T G SNP HADHA ENST00000380649 human ensembl 70_37 -1 known intronic c.1220+613 e12+613 0.000 - - - no_errors HADHA HGNC ENSG00000084754 tier2 769 0 0 1168 4 0.341296928327645 421 1 0.23696682464455 2 26477293 26477293 T C SNP HADHB ENST00000317799 human ensembl 70_37 +1 known splice_region c.65-5 e2-5 0.860 - - - no_errors HADHB HGNC ENSG00000138029 tier2 834 0 0 1375 2 0.145243282498184 442 0 0 2 26707174 26707174 A C SNP OTOF ENST00000272371 human ensembl 70_37 -1 known intronic c.1205+168 e12+168 0.000 - - - no_errors OTOF HGNC ENSG00000115155 tier2 253 0 0 363 2 0.547945205479452 157 0 0 2 26887081 26887081 G T SNP KCNK3 ENST00000302909 human ensembl 70_37 +1 known 5_prime_flanking_region c.-28663 NULL 0.030 - - - no_errors KCNK3 HGNC ENSG00000171303 tier4 1189 0 0 1721 2 0.116076610562972 382 0 0 2 28863358 28863358 G T SNP PLB1 ENST00000422425 human ensembl 70_37 +1 known intronic c.4066-435 e56-435 0.013 - - - no_errors PLB1 HGNC ENSG00000163803 tier2 1687 0 0 2533 2 0.0788022064617809 677 2 0.294550810014728 2 29084804 29084804 T C SNP TRMT61B ENST00000484060 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors TRMT61B HGNC ENSG00000171103 tier1 417 0 0 634 2 0.314465408805031 192 0 0 2 29402484 29402484 G A SNP CLIP4 ENST00000402240 human ensembl 70_37 +1 known intronic c.1803-1954 e15-1954 0.000 - - - no_errors CLIP4 HGNC ENSG00000115295 tier4 1354 0 0 1562 240 13.3185349611543 586 0 0 2 30616605 30616605 C A SNP ENSG00000235997 ENST00000421976 human ensembl 70_37 +1 known 3_prime_flanking_region c.*41308 NULL 0.012 - - - no_errors AC109642.1 Clone_based_vega_gene ENSG00000235997 tier2 1094 0 0 1661 3 0.180288461538462 512 2 0.389105058365759 2 30956454 30956454 C T SNP CAPN13 ENST00000295055 human ensembl 70_37 -1 known intronic c.1798+861 e18+861 0.000 - - - no_errors CAPN13 HGNC ENSG00000162949 tier4 856 0 0 583 489 45.5731593662628 345 93 20.9932279909707 2 31582920 31582920 C A SNP XDH ENST00000379416 human ensembl 70_37 -1 known intronic c.2631+4104 e24+4104 0.009 - - - no_errors XDH HGNC ENSG00000158125 tier2 430 0 0 586 2 0.340136054421769 234 0 0 2 33631909 33631909 C T SNP RASGRP3 ENST00000402538 human ensembl 70_37 +1 known 5_prime_flanking_region c.-108295 NULL 0.000 - - - no_errors RASGRP3 HGNC ENSG00000152689 tier2 961 0 0 1428 55 3.70869858395145 546 0 0 2 34608257 34608257 T C SNP ENSG00000226785 ENST00000422558 human ensembl 70_37 +1 known 5_prime_flanking_region c.-598 NULL 0.012 - - - no_errors AC073218.1 Clone_based_vega_gene ENSG00000226785 tier4 1187 0 0 760 752 49.7354497354497 508 144 22.0858895705521 2 35057465 35057465 T G SNP ENSG00000226994 ENST00000453451 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors AC012593.1 Clone_based_vega_gene ENSG00000226994 tier2 886 0 0 1138 6 0.523103748910201 373 2 0.533333333333333 2 35223411 35223411 C G SNP ENSG00000237320 ENST00000414796 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors AC019064.1 Clone_based_vega_gene ENSG00000237320 tier1 1055 0 0 1381 2 0.144508670520231 518 2 0.383877159309021 2 35731457 35731457 G A SNP MIR548AD ENST00000584780 human ensembl 70_37 +1 known 3_prime_flanking_region c.*34905 NULL 0.000 - - - no_errors MIR548AD HGNC ENSG00000265301 tier2 1160 0 0 792 589 42.6193921852388 544 111 16.9465648854962 2 36111807 36111807 T G SNP - - - - - - - - - - - - - - - - - - tier2 1225 0 0 1607 2 0.124300807955252 532 0 0 2 36798248 36798248 T C SNP FEZ2 ENST00000405912 human ensembl 70_37 -1 known intronic c.903+7492 e5+7492 0.001 - - - no_errors FEZ2 HGNC ENSG00000171055 tier2 1425 0 0 1017 748 42.3796033994334 587 111 15.8798283261803 2 36841665 36841665 T G SNP FEZ2 ENST00000357996 human ensembl 70_37 -1 novel intronic c.1-23511 e1-23511 0.145 - - - no_stop_codon:bad_bp_length_for_coding_region FEZ2 HGNC ENSG00000171055 tier2 735 0 0 982 2 0.203252032520325 316 1 0.311526479750779 2 37323077 37323077 T C SNP CCDC75 ENST00000409774 human ensembl 70_37 +1 known intronic c.725-274 e8-274 0.001 - - - no_errors CCDC75 HGNC ENSG00000152133 tier2 1030 0 0 854 714 45.448758752387 474 100 17.4216027874564 2 39055688 39055688 T C SNP DHX57 ENST00000295373 human ensembl 70_37 -1 known intronic c.2543-110 e13-110 0.000 - - - no_errors DHX57 HGNC ENSG00000163214 tier2 1743 0 0 1388 1117 44.5730247406225 658 156 19.1176470588235 2 39614519 39614519 T G SNP MAP4K3 ENST00000263881 human ensembl 70_37 -1 known intronic c.97-9255 e2-9255 0.001 - - - no_errors MAP4K3 HGNC ENSG00000011566 tier4 609 0 0 924 5 0.538213132400431 315 1 0.316455696202532 2 39723635 39723635 T A SNP LOC728730 ENST00000422128 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors AC007246.3 Clone_based_vega_gene ENSG00000231312 tier2 743 0 0 592 456 43.5114503816794 378 74 16.3716814159292 2 39910075 39910075 T C SNP TMEM178A ENST00000281961 human ensembl 70_37 +1 known intronic c.400+16561 e1+16561 0.000 - - - no_errors TMEM178A HGNC ENSG00000152154 tier2 470 0 0 704 3 0.424328147100424 244 1 0.408163265306122 2 41065492 41065492 G T SNP - - - - - - - - - - - - - - - - - - tier2 604 0 0 833 3 0.3584229390681 308 4 1.28205128205128 2 41275235 41275235 T C SNP - - - - - - - - - - - - - - - - - - tier2 1660 0 0 1160 921 44.2363112391931 714 118 14.1826923076923 2 41356260 41356260 G T SNP ENSG00000241522 ENST00000431359 human ensembl 70_37 +1 putative 5_prime_flanking_region c.-14660 NULL 0.001 - - - no_errors AC009223.2 Clone_based_vega_gene ENSG00000241522 tier2 1147 0 0 1488 5 0.334896182183523 477 6 1.24223602484472 2 41489095 41489095 C G SNP - - - - - - - - - - - - - - - - - - tier2 1169 0 0 1453 3 0.206043956043956 543 0 0 2 41510831 41510831 T C SNP - - - - - - - - - - - - - - - - - - tier4 750 0 0 487 297 37.8826530612245 384 83 17.7730192719486 2 41811136 41811136 A C SNP ENSG00000221372 ENST00000408445 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-12390 NULL 0.033 - - - no_errors AC010739.1 Clone_based_ensembl_gene ENSG00000221372 tier4 2286 0 0 3264 4 0.122324159021407 673 4 0.589970501474926 2 42156017 42156017 G T SNP LOC388942 ENST00000398796 human ensembl 70_37 +1 known 3_prime_flanking_region c.*34838 NULL 0.026 - - - no_errors AC104654.1 Clone_based_vega_gene ENSG00000214691 tier2 660 0 0 757 118 13.4703196347032 370 0 0 2 42944268 42944268 T G SNP MTA3 ENST00000405094 human ensembl 70_37 +1 known intronic c.1526-1860 e15-1860 0.007 - - - no_errors MTA3 HGNC ENSG00000057935 tier4 769 0 0 1117 1 0.0893655049151028 483 2 0.412371134020619 2 46113597 46113597 A C SNP PRKCE ENST00000306156 human ensembl 70_37 +1 known intronic c.412+43395 e2+43395 0.000 - - - no_errors PRKCE HGNC ENSG00000171132 tier2 824 0 0 1053 3 0.284090909090909 352 0 0 2 46763759 46763759 C A SNP ATP6V1E2 ENST00000505245 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors ATP6V1E2 HGNC ENSG00000250565 tier1 1144 1 0.0871839581517001 867 740 46.0485376477909 485 87 15.1567944250871 2 46938724 46938724 G T SNP SOCS5 ENST00000306503 human ensembl 70_37 +1 known intronic c.1+12474 e0+12474 0.184 - - - no_errors SOCS5 HGNC ENSG00000171150 tier4 670 0 0 977 2 0.204290091930541 347 3 0.852272727272727 2 47658379 47658379 A C SNP MSH2 ENST00000233146 human ensembl 70_37 +1 known intronic c.1276+1299 e7+1299 0.007 - - - no_errors MSH2 HGNC ENSG00000095002 tier2 1137 0 0 900 751 45.4875832828589 526 126 19.3251533742331 2 47979108 47979108 T G SNP ENSG00000225009 ENST00000454137 human ensembl 70_37 +1 known intronic c.NULL NULL 0.039 - - - no_errors AC006509.6 Clone_based_vega_gene ENSG00000225009 tier4 572 0 0 912 3 0.327868852459016 360 1 0.275482093663912 2 48665823 48665823 G T SNP PPP1R21 ENST00000294952 human ensembl 70_37 +1 known 5_prime_flanking_region c.-2270 NULL 0.271 - - - no_errors PPP1R21 HGNC ENSG00000162869 tier4 675 1 0.147710487444609 882 10 1.12107623318386 322 9 2.7190332326284 2 49012418 49012418 T A SNP LHCGR ENST00000294954 human ensembl 70_37 -1 known 5_prime_flanking_region c.-29608 NULL 0.001 - - - no_errors LHCGR HGNC ENSG00000138039 tier2 793 0 0 618 418 40.2697495183044 335 64 16.0401002506266 2 49449022 49449022 A C SNP ENSG00000206915 ENST00000384188 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*11911 NULL 0.004 - - - no_errors U6 RFAM ENSG00000206915 tier2 686 0 0 900 2 0.221483942414175 273 1 0.36231884057971 2 49954397 49954397 G T SNP - - - - - - - - - - - - - - - - - - tier2 1641 0 0 2331 2 0.085726532361766 667 2 0.298953662182362 2 50249593 50249593 A C SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known intronic c.4104+30816 e21+30816 0.016 - - - no_errors NRXN1 HGNC ENSG00000179915 tier2 863 0 0 1147 3 0.260869565217391 454 2 0.43859649122807 2 50338464 50338464 C A SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known intronic c.3523-19832 e19-19832 0.001 - - - no_errors NRXN1 HGNC ENSG00000179915 tier4 1125 1 0.0887311446317658 1385 142 9.29319371727749 566 2 0.350877192982456 2 51067680 51067680 G T SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known intronic c.825+58056 e5+58056 0.970 - - - no_errors NRXN1 HGNC ENSG00000179915 tier2 920 0 0 1141 3 0.262237762237762 377 5 1.30548302872063 2 51513342 51513342 C T SNP ENSG00000231918 ENST00000440698 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors AC007682.1 Clone_based_vega_gene ENSG00000231918 tier4 903 1 0.110619469026549 604 471 43.8139534883721 378 74 16.2280701754386 2 51959434 51959434 T G SNP ENSG00000231918 ENST00000440698 human ensembl 70_37 +1 known intronic c.NULL NULL 0.009 - - - no_errors AC007682.1 Clone_based_vega_gene ENSG00000231918 tier2 1273 0 0 1615 2 0.123685837971552 569 0 0 2 52159679 52159679 A C SNP ENSG00000231918 ENST00000440698 human ensembl 70_37 +1 known intronic c.NULL NULL 0.009 - - - no_errors AC007682.1 Clone_based_vega_gene ENSG00000231918 tier4 1323 0 0 1441 159 9.9375 568 0 0 2 52206078 52206078 T C SNP ENSG00000231918 ENST00000440698 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors AC007682.1 Clone_based_vega_gene ENSG00000231918 tier4 1642 0 0 1095 927 45.8456973293769 577 150 20.5761316872428 2 54505839 54505839 G T SNP ACYP2 ENST00000394666 human ensembl 70_37 +1 known intronic c.186-25986 e4-25986 0.490 - - - no_errors ACYP2 HGNC ENSG00000170634 tier2 1085 0 0 1376 3 0.217391304347826 510 0 0 2 55132609 55132609 G A SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel intronic c.3409+1970 e23+1970 0.003 - - - no_errors EML6 HGNC ENSG00000214595 tier2 1407 0 0 1139 901 44.1666666666667 521 106 16.9059011164274 2 55248437 55248437 G A SNP RTN4 ENST00000337526 human ensembl 70_37 -1 known intronic c.3013+3785 e3+3785 0.010 - - - no_errors RTN4 HGNC ENSG00000115310 tier2 1248 0 0 1036 858 45.2293094359515 457 138 23.1932773109244 2 56501678 56501678 G A SNP CCDC85A ENST00000407595 human ensembl 70_37 +1 known intronic c.1241-68336 e3-68336 0.001 - - - no_errors CCDC85A HGNC ENSG00000055813 tier4 531 0 0 379 266 41.2403100775194 206 44 17.6 2 57612243 57612243 A C SNP - - - - - - - - - - - - - - - - - - tier4 592 0 0 785 4 0.506970849176172 319 0 0 2 61167264 61167264 C T SNP NONOP2 ENST00000414613 human ensembl 70_37 -1 known 5_prime_flanking_region c.-2080 NULL 0.000 - - - no_coding_region:pseudogene NONOP2 HGNC ENSG00000237522 tier2 1159 0 0 1814 2 0.110132158590308 604 0 0 2 61511909 61511909 C A SNP USP34 ENST00000398571 human ensembl 70_37 -1 known intronic c.4832+101 e35+101 0.000 - - - no_errors USP34 HGNC ENSG00000115464 tier4 1877 0 0 2870 2 0.0696136442742778 839 0 0 2 62658263 62658263 T G SNP ENSG00000228541 ENST00000416845 human ensembl 70_37 +1 known 5_prime_flanking_region c.-31999 NULL 0.140 - - - no_errors AC093159.1 Clone_based_vega_gene ENSG00000228541 tier2 1679 0 0 2583 4 0.154619250096637 589 3 0.505050505050505 2 67109243 67109243 A C SNP LOC101060019 ENST00000411701 human ensembl 70_37 +1 known 5_prime_flanking_region c.-39583 NULL 0.001 - - - no_errors AC007403.2 Clone_based_vega_gene ENSG00000230525 tier2 679 0 0 847 4 0.470035252643948 349 3 0.852272727272727 2 67671012 67671012 T C SNP ETAA1 ENST00000272342 human ensembl 70_37 +1 known 3_prime_flanking_region c.*33842 NULL 0.181 - - - no_errors ETAA1 HGNC ENSG00000143971 tier4 477 0 0 616 3 0.484652665589661 256 3 1.15830115830116 2 68773458 68773458 T G SNP APLF ENST00000303795 human ensembl 70_37 +1 known intronic c.1286+1014 e8+1014 0.097 - - - no_errors APLF HGNC ENSG00000169621 tier4 907 0 0 1344 3 0.222551928783383 358 4 1.10497237569061 2 68922111 68922111 A C SNP ARHGAP25 ENST00000463483 human ensembl 70_37 +1 known intronic c.1+15250 e0+15250 0.120 - - - no_errors ARHGAP25 HGNC ENSG00000163219 tier4 453 0 0 663 4 0.598802395209581 276 3 1.06761565836299 2 69182941 69182941 G T SNP GKN1 ENST00000377938 human ensembl 70_37 +1 known 5_prime_flanking_region c.-18827 NULL 0.031 - - - no_errors GKN1 HGNC ENSG00000169605 tier2 953 0 0 1314 1 0.0760456273764259 414 7 1.66270783847981 2 69877908 69877908 G A SNP ENSG00000234198 ENST00000418066 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors AC092431.1 Clone_based_vega_gene ENSG00000234198 tier2 996 0 0 829 640 43.5078178110129 445 85 15.9176029962547 2 70226534 70226534 C A SNP PCBP1-AS1 ENST00000411429 human ensembl 70_37 -1 known intronic c.NULL NULL 0.005 - - - no_errors PCBP1-AS1 HGNC ENSG00000179818 tier4 892 1 0.111856823266219 678 669 49.6659242761693 368 93 20.173535791757 2 70306453 70306453 T A SNP PCBP1-AS1 ENST00000366234 human ensembl 70_37 -1 known intronic c.NULL NULL 0.042 - - - no_errors PCBP1-AS1 HGNC ENSG00000179818 tier4 2105 21 0.987770460959548 2307 1027 30.7946026986507 620 8 1.27388535031847 2 70379391 70379391 T G SNP C2orf42 ENST00000264434 human ensembl 70_37 -1 known intronic c.1517-1695 e8-1695 0.001 - - - no_errors C2orf42 HGNC ENSG00000115998 tier2 997 0 0 1632 3 0.183374083129584 529 0 0 2 71711803 71711803 A C SNP DYSF ENST00000413539 human ensembl 70_37 +1 known intronic c.236+2703 e3+2703 0.151 - - - no_errors DYSF HGNC ENSG00000135636 tier4 703 0 0 1016 2 0.196463654223969 280 2 0.709219858156028 2 71809859 71809859 T C SNP DYSF ENST00000413539 human ensembl 70_37 +1 known intronic c.3442-6864 e32-6864 0.000 - - - no_errors DYSF HGNC ENSG00000135636 tier4 852 0 0 1123 2 0.177777777777778 348 1 0.286532951289398 2 71901090 71901090 G T SNP DYSF ENST00000413539 human ensembl 70_37 +1 known intronic c.5761-237 e52-237 0.000 - - - no_errors DYSF HGNC ENSG00000135636 tier4 1411 1 0.0707714083510262 1032 740 41.7371686407219 506 106 17.3202614379085 2 72696739 72696739 A T SNP EXOC6B ENST00000272427 human ensembl 70_37 -1 known intronic c.1801-4271 e18-4271 0.474 - - - no_errors EXOC6B HGNC ENSG00000144036 tier4 892 0 0 554 450 44.8207171314741 365 94 20.479302832244 2 72899932 72899932 A G SNP EXOC6B ENST00000272427 human ensembl 70_37 -1 known intronic c.669+45300 e6+45300 0.047 - - - no_errors EXOC6B HGNC ENSG00000144036 tier4 2239 0 0 3068 2 0.0651465798045603 617 5 0.801282051282051 2 73278709 73278709 T C SNP SFXN5 ENST00000272433 human ensembl 70_37 -1 known intronic c.171+6948 e2+6948 0.798 - - - no_errors SFXN5 HGNC ENSG00000144040 tier4 368 0 0 477 1 0.209205020920502 237 3 1.25 2 73486226 73486226 T C SNP FBXO41 ENST00000295133 human ensembl 70_37 -1 known intronic c.2749-54 e13-54 0.012 - - - no_errors FBXO41 HGNC ENSG00000163013 tier2 284 0 0 431 2 0.46189376443418 148 0 0 2 74972834 74972834 C T SNP ENSG00000224646 ENST00000421570 human ensembl 70_37 -1 known 3_prime_flanking_region c.*8963 NULL 0.296 - - - no_coding_region:pseudogene AC007387.2 Clone_based_vega_gene ENSG00000224646 tier2 863 0 0 624 540 46.3917525773196 387 82 17.4097664543524 2 75798475 75798475 A G SNP EVA1A ENST00000233712 human ensembl 70_37 -1 known 5_prime_flanking_region c.-53209 NULL 0.994 - - - no_errors EVA1A HGNC ENSG00000115363 tier2 343 0 0 439 2 0.453514739229025 194 0 0 2 75809007 75809007 T G SNP EVA1A ENST00000233712 human ensembl 70_37 -1 known 5_prime_flanking_region c.-63741 NULL 0.314 - - - no_errors EVA1A HGNC ENSG00000115363 tier4 704 0 0 855 1 0.116822429906542 374 2 0.529100529100529 2 75901270 75901270 C A SNP GCFC2 ENST00000321027 human ensembl 70_37 -1 known intronic c.1813-624 e13-624 0.030 - - - no_errors GCFC2 HGNC ENSG00000005436 tier4 711 0 0 967 3 0.309278350515464 349 2 0.568181818181818 2 76242358 76242358 G A SNP - - - - - - - - - - - - - - - - - - tier2 1369 0 0 989 773 43.7464629315224 559 69 10.9177215189873 2 76280816 76280816 A T SNP - - - - - - - - - - - - - - - - - - tier2 782 0 0 1051 2 0.189753320683112 452 0 0 2 77312464 77312464 G A SNP LRRTM4 ENST00000409911 human ensembl 70_37 -1 known intronic c.1555-336422 e3-336422 0.000 - - - no_errors LRRTM4 HGNC ENSG00000176204 tier2 877 0 0 647 490 43.0958663148637 288 75 20.6611570247934 2 77582697 77582697 A G SNP LRRTM4 ENST00000409911 human ensembl 70_37 -1 known intronic c.1554+162747 e2+162747 0.001 - - - no_errors LRRTM4 HGNC ENSG00000176204 tier2 999 1 0.1 831 350 29.6359017781541 438 0 0 2 78573743 78573743 A G SNP - - - - - - - - - - - - - - - - - - tier4 1122 0 0 1471 2 0.135777325186694 449 1 0.222222222222222 2 78677231 78677231 C A SNP ENSG00000214429 ENST00000434498 human ensembl 70_37 -1 known 5_prime_flanking_region c.-37011 NULL 0.015 - - - no_coding_region:pseudogene AC064872.1 Clone_based_vega_gene ENSG00000214429 tier4 1626 3 0.18359853121175 2251 3 0.132860938883968 414 10 2.33100233100233 2 78741771 78741771 G A SNP - - - - - - - - - - - - - - - - - - tier2 987 0 0 972 108 10 509 0 0 2 79030763 79030763 A C SNP - - - - - - - - - - - - - - - - - - tier4 1012 0 0 1437 4 0.277585010409438 519 1 0.191570881226054 2 79852265 79852265 G A SNP CTNNA2 ENST00000361291 human ensembl 70_37 +1 known intronic c.98-26413 e2-26413 0.000 - - - no_errors CTNNA2 HGNC ENSG00000066032 tier2 1392 1 0.0717360114777618 964 776 44.5464982778416 420 143 25.0437828371278 2 80204884 80204884 T C SNP CTNNA2 ENST00000361291 human ensembl 70_37 +1 known intronic c.1158+67961 e7+67961 0.000 - - - no_errors CTNNA2 HGNC ENSG00000066032 tier2 1435 0 0 1805 2 0.110619469026549 592 2 0.336700336700337 2 80204902 80204902 C T SNP CTNNA2 ENST00000361291 human ensembl 70_37 +1 known intronic c.1158+67979 e7+67979 0.001 - - - no_errors CTNNA2 HGNC ENSG00000066032 tier2 1323 0 0 1665 2 0.11983223487118 536 0 0 2 80684711 80684711 G A SNP CTNNA2 ENST00000361291 human ensembl 70_37 +1 known intronic c.1392+37985 e9+37985 0.000 - - - no_errors CTNNA2 HGNC ENSG00000066032 tier2 1050 0 0 1074 134 11.0835401157982 495 0 0 2 81362271 81362271 A G SNP - - - - - - - - - - - - - - - - - - tier4 2035 0 0 2717 33 1.2 825 0 0 2 81633950 81633950 T G SNP ENSG00000231722 ENST00000436549 human ensembl 70_37 -1 known 3_prime_flanking_region c.*11897 NULL 0.001 - - - no_coding_region:pseudogene AC012075.1 Clone_based_vega_gene ENSG00000231722 tier4 834 0 0 1073 4 0.371402042711235 378 1 0.263852242744063 2 82458855 82458855 G T SNP ENSG00000252897 ENST00000517088 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-36881 NULL 0.000 - - - no_errors U6 RFAM ENSG00000252897 tier4 1319 0 0 1681 4 0.237247924080664 650 4 0.611620795107034 2 83314935 83314935 A C SNP - - - - - - - - - - - - - - - - - - tier2 810 0 0 1142 3 0.262008733624454 421 0 0 2 83695957 83695957 G A SNP - - - - - - - - - - - - - - - - - - tier2 927 0 0 700 552 44.0894568690096 372 95 20.3426124197002 2 85287546 85287546 T G SNP KCMF1 ENST00000409785 human ensembl 70_37 +1 known 3_prime_flanking_region c.*7014 NULL 0.020 - - - no_errors KCMF1 HGNC ENSG00000176407 tier2 792 0 0 1223 3 0.244698205546493 405 0 0 2 85319150 85319150 T C SNP TCF7L1 ENST00000282111 human ensembl 70_37 +1 known 5_prime_flanking_region c.-41658 NULL 0.006 - - - no_errors TCF7L1 HGNC ENSG00000152284 tier4 553 0 0 852 2 0.234192037470726 365 0 0 2 85421158 85421158 C T SNP TCF7L1 ENST00000282111 human ensembl 70_37 +1 known intronic c.441+59585 e3+59585 0.000 - - - no_errors TCF7L1 HGNC ENSG00000152284 tier2 851 0 0 657 521 44.2275042444822 357 83 18.8636363636364 2 85572350 85572350 C T SNP RETSAT ENST00000295802 human ensembl 70_37 -1 known intronic c.1118-495 e7-495 0.000 - - - no_errors RETSAT HGNC ENSG00000042445 tier2 570 1 0.175131348511384 487 322 39.7040690505549 308 49 13.6490250696379 2 86036187 86036187 T C SNP LOC284950 ENST00000366278 human ensembl 70_37 +1 known 5_prime_flanking_region c.-6066 NULL 0.001 - - - no_errors AC105053.3 Clone_based_vega_gene ENSG00000229498 tier2 863 0 0 1404 2 0.142247510668563 481 1 0.20746887966805 2 86521271 86521271 A G SNP REEP1 ENST00000538924 human ensembl 70_37 -1 known intronic c.54-11906 e2-11906 0.000 - - - no_errors REEP1 HGNC ENSG00000068615 tier4 1065 0 0 1703 2 0.117302052785924 492 0 0 2 86614454 86614454 G A SNP REEP1 ENST00000538924 human ensembl 70_37 -1 known 5_prime_flanking_region c.-49255 NULL 0.113 - - - no_errors REEP1 HGNC ENSG00000068615 tier4 959 2 0.208116545265349 726 611 45.6651718983558 535 79 12.8664495114007 2 87051310 87051310 T A SNP CD8B ENST00000331469 human ensembl 70_37 -1 known intronic c.621-8469 e6-8469 0.000 - - - no_errors CD8B HGNC ENSG00000172116 tier2 154 0 0 209 4 1.77777777777778 63 2 2.85714285714286 2 87392663 87392663 A C SNP ENSG00000204745 ENST00000454465 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_coding_region:pseudogene AC083899.3 Clone_based_vega_gene ENSG00000204745 tier4 700 0 0 1047 3 0.285714285714286 321 3 0.925925925925926 2 88460897 88460897 C A SNP THNSL2 ENST00000324166 human ensembl 70_37 +1 known 5_prime_flanking_region c.-11773 NULL 0.017 - - - no_errors THNSL2 HGNC ENSG00000144115 tier4 707 0 0 560 443 44.0796019900497 292 79 21.1229946524064 2 88793292 88793292 T G SNP TEX37 ENST00000303254 human ensembl 70_37 +1 known 5_prime_flanking_region c.-31871 NULL 0.006 - - - no_errors TEX37 HGNC ENSG00000172073 tier2 1175 0 0 1702 2 0.117302052785924 547 0 0 2 89403089 89403089 T G SNP IGKV1-16 ENST00000479981 human ensembl 70_37 -1 known 5_prime_flanking_region c.-3262 NULL 0.058 - - - no_stop_codon IGKV1-16 HGNC ENSG00000240864 tier4 719 0 0 933 2 0.213447171824973 370 4 1.06951871657754 2 89852115 89852115 T C SNP IGKV1D-39 ENST00000448155 human ensembl 70_37 +1 known 5_prime_flanking_region c.-49200 NULL 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region IGKV1D-39 HGNC ENSG00000251546 tier4 112 0 0 126 2 1.5625 142 0 0 2 89853548 89853548 G T SNP IGKV1D-39 ENST00000448155 human ensembl 70_37 +1 known 5_prime_flanking_region c.-47767 NULL 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region IGKV1D-39 HGNC ENSG00000251546 tier4 430 0 0 586 4 0.673400673400673 220 3 1.34529147982063 2 89853571 89853571 C A SNP IGKV1D-39 ENST00000448155 human ensembl 70_37 +1 known 5_prime_flanking_region c.-47744 NULL 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region IGKV1D-39 HGNC ENSG00000251546 tier4 362 0 0 471 2 0.421940928270042 192 0 0 2 89867635 89867635 A T SNP IGKV1D-39 ENST00000448155 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33680 NULL 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region IGKV1D-39 HGNC ENSG00000251546 tier4 654 0 0 964 4 0.412796697626419 319 0 0 2 89867649 89867649 C G SNP IGKV1D-39 ENST00000448155 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33666 NULL 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region IGKV1D-39 HGNC ENSG00000251546 tier4 572 0 0 833 2 0.239520958083832 223 0 0 2 89875103 89875103 G C SNP IGKV1D-39 ENST00000448155 human ensembl 70_37 +1 known 5_prime_flanking_region c.-26212 NULL 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region IGKV1D-39 HGNC ENSG00000251546 tier4 759 0 0 1023 3 0.292397660818713 278 0 0 2 89875127 89875127 T A SNP IGKV1D-39 ENST00000448155 human ensembl 70_37 +1 known 5_prime_flanking_region c.-26188 NULL 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region IGKV1D-39 HGNC ENSG00000251546 tier4 981 0 0 1364 2 0.146305779078274 420 0 0 2 91629649 91629649 A T SNP IGKV1OR2-118 ENST00000405516 human ensembl 70_37 +1 known 5_prime_flanking_region c.-49447 NULL 0.007 - - - no_coding_region:pseudogene IGKV1OR2-118 HGNC ENSG00000219041 tier4 2477 50 1.97784810126582 2959 77 2.53623188405797 1776 111 5.88235294117647 2 91821900 91821900 C A SNP RNA5SP100 ENST00000410903 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40983 NULL 0.019 - - - no_errors RNA5SP100 HGNC ENSG00000222835 tier4 1718 0 0 2157 2 0.0926354793886058 1100 1 0.0908265213442325 2 91869842 91869842 T C SNP LOC654342 ENST00000271699 human ensembl 70_37 -1 known 5_prime_flanking_region c.-21867 NULL 0.002 - - - no_coding_region:pseudogene AC027612.6 Clone_based_vega_gene ENSG00000143429 tier4 2990 0 0 4040 5 0.123517786561265 1512 5 0.3295978905735 2 92305916 92305916 A G SNP - - - - - - - - - - - - - - - - - - tier4 424 0 0 723 2 0.275862068965517 286 2 0.694444444444444 2 92305986 92305986 T A SNP - - - - - - - - - - - - - - - - - - tier4 178 0 0 310 2 0.641025641025641 113 0 0 2 92308777 92308777 T G SNP - - - - - - - - - - - - - - - - - - tier4 184 0 0 227 3 1.30434782608696 129 0 0 2 92321727 92321727 A T SNP - - - - - - - - - - - - - - - - - - tier4 173 0 0 283 3 1.04166666666667 99 0 0 2 92323080 92323080 T C SNP - - - - - - - - - - - - - - - - - - tier4 166 0 0 231 2 0.858369098712446 61 0 0 2 95526253 95526253 A C SNP TEKT4 ENST00000295201 human ensembl 70_37 +1 known 5_prime_flanking_region c.-11072 NULL 0.461 - - - no_errors TEKT4 HGNC ENSG00000163060 tier4 1691 0 0 2422 2 0.0824402308326463 840 0 0 2 98868611 98868611 G A SNP VWA3B ENST00000477737 human ensembl 70_37 +1 known intronic c.2792+1712 e19+1712 0.000 - - - no_errors VWA3B HGNC ENSG00000168658 tier2 201 0 0 114 111 49.3333333333333 68 16 19.047619047619 2 100222798 100222798 G T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known intronic c.1260-4715 e12-4715 0.000 - - - no_errors AFF3 HGNC ENSG00000144218 tier2 792 0 0 1233 3 0.242718446601942 422 3 0.705882352941176 2 100765123 100765123 C T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known 5_prime_flanking_region c.-44207 NULL 0.046 - - - no_errors AFF3 HGNC ENSG00000144218 tier4 954 0 0 870 622 41.6610850636303 390 0 0 2 102067720 102067720 T C SNP RFX8 ENST00000376826 human ensembl 70_37 -1 known intronic c.261-578 e4-578 0.001 - - - no_errors RFX8 HGNC ENSG00000196460 tier3 864 0 0 1310 3 0.228484386900229 501 0 0 2 102426587 102426587 T G SNP MAP4K4 ENST00000324219 human ensembl 70_37 +1 known intronic c.181-13803 e4-13803 0.001 - - - no_errors MAP4K4 HGNC ENSG00000071054 tier3 961 0 0 1477 2 0.135226504394861 424 5 1.16550116550117 2 102558722 102558722 C T SNP IL1R2 ENST00000332549 human ensembl 70_37 +1 known 5_prime_flanking_region c.-66316 NULL 0.265 - - - no_errors IL1R2 HGNC ENSG00000115590 tier4 1150 3 0.25974025974026 1366 141 9.35633709356337 562 0 0 2 104242276 104242276 C T SNP ENSG00000231723 ENST00000414265 human ensembl 70_37 +1 known 3_prime_flanking_region c.*1988 NULL 0.078 - - - no_coding_region:pseudogene AC018880.2 Clone_based_vega_gene ENSG00000231723 tier4 2879 1 0.0346981263011797 4112 1 0.0243072435585805 697 60 7.9155672823219 2 104893176 104893176 C A SNP - - - - - - - - - - - - - - - - - - tier4 1105 0 0 1457 5 0.341997264021888 517 1 0.192307692307692 2 105759235 105759235 T C SNP ENSG00000231851 ENST00000432211 human ensembl 70_37 -1 known 5_prime_flanking_region c.-44140 NULL 0.000 - - - no_errors AC104655.2 Clone_based_vega_gene ENSG00000231851 tier3 1093 1 0.0914076782449726 788 630 44.4287729196051 465 83 15.1459854014599 2 106062062 106062062 C G SNP FHL2 ENST00000322142 human ensembl 70_37 -1 known 5_prime_flanking_region c.-59089 NULL 0.508 - - - no_errors FHL2 HGNC ENSG00000115641 tier4 502 0 0 744 3 0.393700787401575 255 2 0.760456273764259 2 107304678 107304678 A C SNP EEF1A1P12 ENST00000443590 human ensembl 70_37 -1 known 3_prime_flanking_region c.*9109 NULL 0.028 - - - no_coding_region:pseudogene EEF1A1P12 HGNC ENSG00000214199 tier4 614 0 0 760 2 0.262123197903014 287 3 1.03448275862069 2 109989260 109989260 A C SNP SH3RF3 ENST00000309415 human ensembl 70_37 +1 known intronic c.945+1123 e3+1123 0.000 - - - no_errors SH3RF3 HGNC ENSG00000172985 tier3 515 0 0 336 227 40.2482269503546 246 52 17.3913043478261 2 111762428 111762428 G C SNP ACOXL ENST00000439055 human ensembl 70_37 +1 known intronic c.1281+8847 e13+8847 0.016 - - - no_errors ACOXL HGNC ENSG00000153093 tier3 1031 0 0 1461 2 0.136425648021828 482 4 0.816326530612245 2 112500810 112500810 A G SNP ENSG00000228615 ENST00000455969 human ensembl 70_37 +1 known intronic c.NULL NULL 0.020 - - - no_coding_region:pseudogene AC093166.3 Clone_based_vega_gene ENSG00000228615 tier4 112 0 0 160 4 2.4390243902439 69 0 0 2 112556609 112556609 T A SNP ANAPC1 ENST00000341068 human ensembl 70_37 -1 known intronic c.4296+1765 e33+1765 0.011 - - - no_errors ANAPC1 HGNC ENSG00000153107 tier4 1293 0 0 1845 3 0.161987041036717 560 0 0 2 113231887 113231887 A G SNP RGPD8 ENST00000302558 human ensembl 70_37 -1 known 5_prime_flanking_region c.-40857 NULL 0.002 - - - no_errors RGPD8 HGNC ENSG00000169629 tier3 1031 0 0 1536 3 0.194931773879142 405 2 0.491400491400491 2 113234736 113234736 C T SNP RGPD8 ENST00000302558 human ensembl 70_37 -1 known 5_prime_flanking_region c.-43706 NULL 0.005 - - - no_errors RGPD8 HGNC ENSG00000169629 tier4 2808 19 0.671378091872791 4432 36 0.805369127516779 626 29 4.42748091603053 2 114022233 114022233 T G SNP PAX8 ENST00000429538 human ensembl 70_37 -1 known intronic c.25+13714 e1+13714 0.000 - - - no_errors PAX8 HGNC ENSG00000125618 tier4 782 0 0 1164 3 0.25706940874036 384 1 0.25974025974026 2 114176938 114176938 A G SNP CBWD2 ENST00000259199 human ensembl 70_37 +1 known 5_prime_flanking_region c.-18508 NULL 0.423 - - - no_errors CBWD2 HGNC ENSG00000136682 tier4 2808 0 0 4041 2 0.0494559841740851 1546 5 0.322372662798195 2 114411648 114411648 A C SNP RPL23AP7 ENST00000391616 human ensembl 70_37 -1 known 5_prime_flanking_region c.-26981 NULL 0.000 - - - no_errors RPL23AP7 HGNC ENSG00000240356 tier4 520 0 0 817 2 0.244200244200244 298 2 0.664451827242525 2 114725318 114725318 C T SNP LOC440900 ENST00000412690 human ensembl 70_37 +1 known 5_prime_flanking_region c.-11828 NULL 0.002 - - - no_errors AC010982.1 Clone_based_vega_gene ENSG00000234199 tier3 2259 9 0.39647577092511 3104 23 0.734589587991057 822 27 3.18021201413428 2 115159310 115159310 G A SNP DPP10 ENST00000410059 human ensembl 70_37 +1 known 5_prime_flanking_region c.-41046 NULL 0.000 - - - no_errors DPP10 HGNC ENSG00000175497 tier4 916 0 0 572 493 46.2910798122066 346 73 17.4224343675418 2 115165337 115165337 C T SNP DPP10 ENST00000410059 human ensembl 70_37 +1 known 5_prime_flanking_region c.-35019 NULL 0.000 - - - no_errors DPP10 HGNC ENSG00000175497 tier3 843 0 0 517 359 40.9817351598174 364 83 18.5682326621924 2 116774747 116774747 A C SNP - - - - - - - - - - - - - - - - - - tier3 326 0 0 411 3 0.72463768115942 219 1 0.454545454545455 2 117236728 117236728 C T SNP - - - - - - - - - - - - - - - - - - tier3 1774 1 0.0563380281690141 2164 1 0.046189376443418 726 44 5.69948186528497 2 117902035 117902035 T A SNP ENSG00000239185 ENST00000459241 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-4684 NULL 0.073 - - - no_errors U7 RFAM ENSG00000239185 tier4 1005 0 0 618 597 49.0953947368421 413 110 21.0325047801147 2 118618663 118618663 C G SNP HTR5BP ENST00000434708 human ensembl 70_37 +1 known intronic c.NULL NULL 0.453 - - - no_errors HTR5BP HGNC ENSG00000125631 tier4 933 0 0 1244 3 0.240384615384615 436 1 0.22883295194508 2 119782056 119782056 C T SNP MARCO ENST00000327097 human ensembl 70_37 +1 known 3_prime_flanking_region c.*29960 NULL 0.000 - - - no_errors MARCO HGNC ENSG00000019169 tier3 413 0 0 276 218 44.1295546558704 165 37 18.3168316831683 2 119863082 119863082 T C SNP - - - - - - - - - - - - - - - - - - tier3 507 0 0 635 2 0.313971742543171 212 0 0 2 120056395 120056395 G A SNP STEAP3-AS1 ENST00000454260 human ensembl 70_37 -1 known 5_prime_flanking_region c.-49748 NULL 0.033 - - - no_errors STEAP3-AS1 HGNC ENSG00000229867 tier4 1117 0 0 1073 471 30.5051813471503 578 0 0 2 120217340 120217340 A C SNP SCTR ENST00000019103 human ensembl 70_37 -1 known intronic c.790+2083 e7+2083 0.000 - - - no_errors SCTR HGNC ENSG00000080293 tier2 940 0 0 1435 2 0.139082058414465 591 0 0 2 122134113 122134113 T G SNP CLASP1 ENST00000263710 human ensembl 70_37 -1 known intronic c.3642+962 e33+962 0.000 - - - no_errors CLASP1 HGNC ENSG00000074054 tier4 125 0 0 198 2 0.952380952380952 91 1 1.04166666666667 2 123561280 123561280 A G SNP - - - - - - - - - - - - - - - - - - tier3 1252 0 0 992 382 27.802037845706 567 2 0.351493848857645 2 124164801 124164801 G T SNP ENSG00000226708 ENST00000451749 human ensembl 70_37 -1 known 3_prime_flanking_region c.*36041 NULL 0.016 - - - no_errors AC073409.1 Clone_based_vega_gene ENSG00000226708 tier4 594 0 0 406 315 43.6893203883495 342 45 11.5681233933162 2 124362042 124362042 G A SNP - - - - - - - - - - - - - - - - - - tier3 1646 0 0 2069 5 0.240847784200385 725 2 0.275103163686382 2 125221302 125221302 G A SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known intronic c.919-11014 e7-11014 0.000 - - - no_errors CNTNAP5 HGNC ENSG00000155052 tier4 867 0 0 606 471 43.7325905292479 466 62 11.7424242424242 2 125442606 125442606 A C SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known intronic c.2074+37071 e13+37071 0.000 - - - no_errors CNTNAP5 HGNC ENSG00000155052 tier3 739 0 0 970 6 0.614754098360656 323 1 0.308641975308642 2 126213212 126213212 G A SNP - - - - - - - - - - - - - - - - - - tier4 1460 0 0 1329 579 30.3459119496855 690 0 0 2 129577236 129577236 C T SNP - - - - - - - - - - - - - - - - - - tier3 449 0 0 395 331 45.5922865013774 230 84 26.7515923566879 2 129860193 129860193 G A SNP ENSG00000238277 ENST00000413403 human ensembl 70_37 -1 known 5_prime_flanking_region c.-30895 NULL 0.000 - - - no_errors AC068483.1 Clone_based_vega_gene ENSG00000238277 tier3 425 0 0 382 147 27.7882797731569 267 0 0 2 132668765 132668765 T G SNP ENSG00000244337 ENST00000421696 human ensembl 70_37 +1 known 5_prime_flanking_region c.-47085 NULL 0.000 - - - no_errors AJ239322.3 Clone_based_vega_gene ENSG00000244337 tier3 1498 0 0 2066 2 0.096665055582407 590 0 0 2 133093779 133093779 A T SNP ENSG00000230803 ENST00000440802 human ensembl 70_37 -1 known 5_prime_flanking_region c.-41829 NULL 0.009 - - - no_errors AC097532.2 Clone_based_vega_gene ENSG00000230803 tier3 1671 0 0 2132 4 0.187090739008419 996 2 0.2 2 134560136 134560136 T G SNP - - - - - - - - - - - - - - - - - - tier3 296 0 0 386 3 0.77120822622108 93 0 0 2 134904323 134904323 T G SNP MGAT5 ENST00000409645 human ensembl 70_37 +1 known intronic c.1+26461 e0+26461 0.000 - - - no_errors MGAT5 HGNC ENSG00000152127 tier3 660 0 0 882 3 0.338983050847458 343 0 0 2 135629144 135629144 A G SNP ACMSD ENST00000356140 human ensembl 70_37 +1 known intronic c.676+514 e7+514 0.000 - - - no_errors ACMSD HGNC ENSG00000153086 tier4 1414 1 0.0706713780918728 1062 808 43.1623931623932 532 96 15.2380952380952 2 136359197 136359197 T A SNP R3HDM1 ENST00000264160 human ensembl 70_37 +1 known intronic c.1-873 e1-873 0.033 - - - no_errors R3HDM1 HGNC ENSG00000048991 tier3 1585 0 0 2348 1 0.042571306939123 725 4 0.548696844993141 2 137814041 137814041 G A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.191 p.R64Q 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 1057 2 0.188679245283019 746 661 46.9793887704335 407 108 20.9708737864078 2 137814041 137814041 G A SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known missense c.191 p.R64Q 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 1469 2 0.135869565217391 905 827 47.7482678983834 700 188 21.1711711711712 2 137821253 137821253 T C SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known intronic c.950+6453 e2+6453 0.011 - - - no_errors THSD7B HGNC ENSG00000144229 tier4 629 0 0 823 1 0.121359223300971 281 2 0.706713780918728 2 137898700 137898700 A G SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known intronic c.1370-19083 e5-19083 0.000 - - - no_errors THSD7B HGNC ENSG00000144229 tier4 632 0 0 833 3 0.358851674641148 286 0 0 2 138111700 138111700 C T SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known intronic c.2501-51483 e12-51483 0.000 - - - no_errors THSD7B HGNC ENSG00000144229 tier4 755 2 0.264200792602378 561 396 41.3793103448276 335 65 16.25 2 138203179 138203179 A G SNP THSD7B ENST00000272643 human ensembl 70_37 +1 known intronic c.2960-5236 e14-5236 0.003 - - - no_errors THSD7B HGNC ENSG00000144229 tier4 727 0 0 990 1 0.100908173562059 393 4 1.00755667506297 2 138577817 138577817 A T SNP - - - - - - - - - - - - - - - - - - tier4 1701 0 0 2402 2 0.0831600831600832 713 2 0.278940027894003 2 139784653 139784653 A C SNP - - - - - - - - - - - - - - - - - - tier4 915 0 0 1182 3 0.253164556962025 362 0 0 2 140300863 140300863 A C SNP ENSG00000206901 ENST00000384174 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*31738 NULL 0.004 - - - no_errors SNORA72 RFAM ENSG00000206901 tier4 1471 0 0 971 853 46.7397260273973 476 115 19.327731092437 2 140701976 140701976 C G SNP ENSG00000240977 ENST00000489055 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-38277 NULL 0.000 - - - no_errors Metazoa_SRP RFAM ENSG00000240977 tier3 1075 0 0 768 534 40.9195402298851 439 108 19.7440585009141 2 140959252 140959252 T C SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known 3_prime_flanking_region c.*31503 NULL 0.001 - - - no_errors LRP1B HGNC ENSG00000168702 tier3 820 0 0 513 408 44.2516268980477 356 61 14.6282973621103 2 141395945 141395945 G A SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known intronic c.6800-36737 e42-36737 0.000 - - - no_errors LRP1B HGNC ENSG00000168702 tier3 1163 0 0 1724 3 0.173510699826489 515 6 1.12994350282486 2 143954167 143954167 C T SNP ARHGAP15 ENST00000295095 human ensembl 70_37 +1 known intronic c.166-5536 e2-5536 0.038 - - - no_errors ARHGAP15 HGNC ENSG00000075884 tier3 1429 0 0 1998 3 0.149925037481259 632 0 0 2 144454649 144454649 T G SNP ARHGAP15 ENST00000295095 human ensembl 70_37 +1 known intronic c.1139-6339 e12-6339 0.022 - - - no_errors ARHGAP15 HGNC ENSG00000075884 tier3 1553 0 0 2138 1 0.0467289719626168 677 4 0.587371512481645 2 144794302 144794302 T G SNP GTDC1 ENST00000344850 human ensembl 70_37 -1 known intronic c.522-29200 e4-29200 0.000 - - - no_errors GTDC1 HGNC ENSG00000121964 tier3 901 0 0 1237 2 0.161420500403551 441 3 0.675675675675676 2 145082419 145082419 T A SNP GTDC1 ENST00000542155 human ensembl 70_37 -1 known intronic c.1+7587 e0+7587 0.131 - - - no_errors GTDC1 HGNC ENSG00000121964 tier3 1258 0 0 1850 5 0.269396551724138 607 2 0.32626427406199 2 145206986 145206986 T C SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known intronic c.74-19393 e2-19393 0.002 - - - no_errors ZEB2 HGNC ENSG00000169554 tier3 1709 0 0 2629 3 0.113981762917933 709 0 0 2 146422560 146422560 C A SNP - - - - - - - - - - - - - - - - - - tier4 1989 0 0 2736 9 0.327868852459016 680 4 0.583090379008746 2 147687077 147687077 G T SNP ENSG00000227902 ENST00000436245 human ensembl 70_37 +1 known 3_prime_flanking_region c.*27577 NULL 0.000 - - - no_errors AC062032.1 Clone_based_vega_gene ENSG00000227902 tier3 693 0 0 832 2 0.239808153477218 320 0 0 2 148603747 148603747 A T SNP ACVR2A ENST00000241416 human ensembl 70_37 +1 known intronic c.55+971 e1+971 0.129 - - - no_errors ACVR2A HGNC ENSG00000121989 tier2 1037 0 0 700 514 42.3045267489712 408 83 16.9042769857434 2 148773498 148773498 C G SNP ORC4 ENST00000264169 human ensembl 70_37 -1 known intronic c.1+5519 e0+5519 0.387 - - - no_errors ORC4 HGNC ENSG00000115947 tier4 280 0 0 400 1 0.249376558603491 233 5 2.10084033613445 2 150898763 150898763 C T SNP - - - - - - - - - - - - - - - - - - tier3 910 0 0 626 564 47.3949579831933 481 72 12.9263913824057 2 151045539 151045539 A C SNP ENSG00000230645 ENST00000437118 human ensembl 70_37 +1 known intronic c.NULL NULL 0.874 - - - no_errors AC016682.1 Clone_based_vega_gene ENSG00000230645 tier3 788 0 0 1056 2 0.189035916824197 361 1 0.276243093922652 2 152892519 152892519 T C SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known intronic c.147+62325 e2+62325 0.003 - - - no_errors CACNB4 HGNC ENSG00000182389 tier4 2293 0 0 3646 2 0.0547795124623391 796 3 0.375469336670839 2 152943291 152943291 T G SNP CACNB4 ENST00000339254 human ensembl 70_37 -1 known intronic c.147+11553 e2+11553 0.000 - - - no_errors CACNB4 HGNC ENSG00000182389 tier3 962 0 0 1309 3 0.228658536585366 606 1 0.164744645799012 2 153019710 153019710 A G SNP STAM2 ENST00000263904 human ensembl 70_37 -1 known intronic c.40+12407 e1+12407 0.137 - - - no_errors STAM2 HGNC ENSG00000115145 tier4 292 0 0 467 3 0.636942675159236 164 0 0 2 153814077 153814077 T C SNP - - - - - - - - - - - - - - - - - - tier3 1137 0 0 1544 3 0.193923723335488 559 2 0.353982300884956 2 156175016 156175016 G A SNP ENSG00000206718 ENST00000383991 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-11917 NULL 0.007 - - - no_errors U6 RFAM ENSG00000206718 tier4 626 0 0 435 321 42.3482849604222 335 23 6.38888888888889 2 156384668 156384668 A T SNP - - - - - - - - - - - - - - - - - - tier3 1038 0 0 1466 4 0.272108843537415 602 0 0 2 156529893 156529893 G A SNP - - - - - - - - - - - - - - - - - - tier4 706 0 0 988 5 0.503018108651911 269 1 0.364963503649635 2 157084864 157084864 T A SNP - - - - - - - - - - - - - - - - - - tier4 1357 0 0 1876 2 0.106496272630458 668 0 0 2 157776843 157776843 G A SNP - - - - - - - - - - - - - - - - - - tier4 1888 3 0.158311345646438 1312 1028 43.9316239316239 618 144 18.848167539267 2 158453263 158453263 G A SNP ACVR1C ENST00000243349 human ensembl 70_37 -1 known intronic c.74-9334 e2-9334 0.000 - - - no_errors ACVR1C HGNC ENSG00000123612 tier3 825 0 0 1048 2 0.19047619047619 451 0 0 2 159048009 159048009 T G SNP CCDC148 ENST00000283233 human ensembl 70_37 -1 known intronic c.1371-12501 e12-12501 0.000 - - - no_errors CCDC148 HGNC ENSG00000153237 tier3 1197 0 0 1712 2 0.116618075801749 571 2 0.349040139616056 2 159340082 159340082 T G SNP PKP4 ENST00000389759 human ensembl 70_37 +1 known intronic c.1+26352 e0+26352 0.001 - - - no_errors PKP4 HGNC ENSG00000144283 tier3 1141 0 0 1509 3 0.198412698412698 408 3 0.72992700729927 2 159418999 159418999 T G SNP PKP4 ENST00000389759 human ensembl 70_37 +1 known intronic c.133-14784 e2-14784 0.004 - - - no_errors PKP4 HGNC ENSG00000144283 tier4 1279 0 0 1663 2 0.12012012012012 589 0 0 2 161598305 161598305 C G SNP - - - - - - - - - - - - - - - - - - tier3 1290 1 0.0773395204949729 1047 810 43.5952637244349 514 106 17.0418006430868 2 164445440 164445440 C A SNP FIGN ENST00000333129 human ensembl 70_37 -1 known 3_prime_flanking_region c.*20622 NULL 0.004 - - - no_errors FIGN HGNC ENSG00000182263 tier3 821 0 0 1036 2 0.192678227360308 450 0 0 2 165126498 165126498 T A SNP ENSG00000237844 ENST00000429636 human ensembl 70_37 -1 known intronic c.NULL NULL 0.101 - - - no_errors AC092684.1 Clone_based_vega_gene ENSG00000237844 tier4 1011 0 0 1167 181 13.4272997032641 641 0 0 2 166411654 166411654 A C SNP CSRNP3 ENST00000314499 human ensembl 70_37 +1 known intronic c.1+37183 e0+37183 0.000 - - - no_errors CSRNP3 HGNC ENSG00000178662 tier4 865 0 0 1132 2 0.17636684303351 431 0 0 2 166495299 166495299 T C SNP CSRNP3 ENST00000314499 human ensembl 70_37 +1 known intronic c.149-18972 e2-18972 0.002 - - - no_errors CSRNP3 HGNC ENSG00000178662 tier3 1018 0 0 1189 2 0.167926112510495 511 0 0 2 166668289 166668289 T C SNP ENSG00000229195 ENST00000428888 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors AC009495.4 Clone_based_vega_gene ENSG00000229195 tier4 753 0 0 1073 3 0.278551532033426 390 2 0.510204081632653 2 167342429 167342429 G C SNP SCN7A ENST00000409855 human ensembl 70_37 -1 known intronic c.1+937 e0+937 0.000 - - - no_errors SCN7A HGNC ENSG00000136546 tier3 1590 3 0.188205771643664 1193 880 42.4300867888139 557 141 20.1428571428571 2 168068730 168068730 A C SNP XIRP2 ENST00000295237 human ensembl 70_37 +1 known intronic c.723+1325 e3+1325 0.000 - - - no_errors XIRP2 HGNC ENSG00000163092 tier3 586 0 0 796 1 0.125470514429109 254 2 0.78125 2 169293988 169293988 T A SNP CERS6 ENST00000305747 human ensembl 70_37 +1 known 5_prime_flanking_region c.-18971 NULL 0.003 - - - no_errors CERS6 HGNC ENSG00000172292 tier3 910 0 0 630 522 45.3125 402 99 19.6819085487078 2 170719660 170719660 A C SNP UBR3 ENST00000272793 human ensembl 70_37 +1 known intronic c.546-9086 e2-9086 0.001 - - - no_errors UBR3 HGNC ENSG00000144357 tier3 892 0 0 1365 4 0.291970802919708 386 1 0.258397932816537 2 173666788 173666788 C G SNP RAPGEF4 ENST00000397081 human ensembl 70_37 +1 known intronic c.297+4447 e3+4447 0.000 - - - no_errors RAPGEF4 HGNC ENSG00000091428 tier3 1552 0 0 1059 875 45.2196382428941 571 94 13.9259259259259 2 173880101 173880101 C A SNP RAPGEF4 ENST00000397081 human ensembl 70_37 +1 known intronic c.1809+759 e18+759 0.000 - - - no_errors RAPGEF4 HGNC ENSG00000091428 tier3 896 1 0.111482720178372 695 571 45.0670876085241 376 105 21.8295218295218 2 174259097 174259097 A G SNP ENSG00000236391 ENST00000437243 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-38161 NULL 0.000 - - - no_errors AC092573.3 Clone_based_vega_gene ENSG00000236391 tier3 923 0 0 1305 4 0.305576776165011 495 4 0.801603206412826 2 174312841 174312841 T A SNP ENSG00000213148 ENST00000456671 human ensembl 70_37 -1 known 5_prime_flanking_region c.-16301 NULL 0.001 - - - no_coding_region:pseudogene AC073465.1 Clone_based_vega_gene ENSG00000213148 tier4 1894 0 0 2650 2 0.0753579502637528 629 0 0 2 174503315 174503315 A C SNP - - - - - - - - - - - - - - - - - - tier4 1449 0 0 987 781 44.1492368569813 569 114 16.6910688140556 2 174975368 174975368 T G SNP OLA1 ENST00000284719 human ensembl 70_37 -1 known intronic c.728+12540 e6+12540 0.029 - - - no_errors OLA1 HGNC ENSG00000138430 tier4 1632 0 0 2593 2 0.0769822940723634 624 0 0 2 175911483 175911483 C T SNP CHN1 ENST00000409900 human ensembl 70_37 -1 known 5_prime_flanking_region c.-41843 NULL 0.036 - - - no_errors CHN1 HGNC ENSG00000128656 tier4 1506 0 0 1075 785 42.2043010752688 596 123 16.9655172413793 2 176126795 176126795 A T SNP ENSG00000229066 ENST00000438963 human ensembl 70_37 +1 known intronic c.NULL NULL 0.068 - - - no_errors AC096649.3 Clone_based_vega_gene ENSG00000229066 tier3 1494 0 0 1120 896 44.4224095190878 606 133 17.9972936400541 2 176452443 176452443 G T SNP - - - - - - - - - - - - - - - - - - tier4 758 0 0 926 3 0.322927879440258 420 2 0.4739336492891 2 177070110 177070110 C G SNP HOXD-AS1 ENST00000413969 human ensembl 70_37 -1 known 5_prime_flanking_region c.-16424 NULL 0.000 - - - no_errors HOXD-AS1 HGNC ENSG00000224189 tier3 346 0 0 482 2 0.413223140495868 200 0 0 2 179228876 179228876 T G SNP OSBPL6 ENST00000315022 human ensembl 70_37 +1 known intronic c.1299+2334 e12+2334 0.010 - - - no_errors OSBPL6 HGNC ENSG00000079156 tier3 1645 0 0 2471 3 0.121212121212121 683 0 0 2 179402259 179402259 T G SNP TTN-AS1 ENST00000415561 human ensembl 70_37 +1 known splice_site c.NULL NULL 0.995 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 787 0 0 1205 5 0.413223140495868 350 4 1.12994350282486 2 179509591 179509591 A G SNP TTN ENST00000342992 human ensembl 70_37 -1 known intronic c.32705-248 e166-248 0.000 - - - no_errors TTN HGNC ENSG00000155657 tier3 1092 0 0 1515 6 0.394477317554241 450 0 0 2 181141427 181141427 C A SNP - - - - - - - - - - - - - - - - - - tier4 708 0 0 827 15 1.77935943060498 399 0 0 2 182578139 182578139 T G SNP NEUROD1 ENST00000295108 human ensembl 70_37 -1 known 5_prime_flanking_region c.-34552 NULL 0.000 - - - no_errors NEUROD1 HGNC ENSG00000162992 tier4 1237 0 0 1812 2 0.110253583241455 483 0 0 2 183585706 183585706 A G SNP DNAJC10 ENST00000264065 human ensembl 70_37 +1 known intronic c.367+810 e2+810 0.000 - - - no_errors DNAJC10 HGNC ENSG00000077232 tier3 1349 0 0 1803 2 0.110803324099723 739 2 0.269905533063428 2 184478722 184478722 G T SNP ENSG00000177855 ENST00000453625 human ensembl 70_37 -1 known 5_prime_flanking_region c.-5875 NULL 0.000 - - - no_coding_region:pseudogene AC074182.1 Clone_based_vega_gene ENSG00000177855 tier3 1070 1 0.0933706816059757 1156 20 1.70068027210884 372 76 16.9642857142857 2 185066510 185066510 T G SNP - - - - - - - - - - - - - - - - - - tier3 890 0 0 1221 2 0.163532297628782 469 0 0 2 185597292 185597292 T G SNP ZNF804A ENST00000302277 human ensembl 70_37 +1 known intronic c.111+133495 e1+133495 0.085 - - - no_errors ZNF804A HGNC ENSG00000170396 tier4 1449 0 0 985 853 46.4091403699674 561 122 17.8102189781022 2 188889577 188889577 T G SNP ENSG00000231689 ENST00000434418 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors AC068718.1 Clone_based_vega_gene ENSG00000231689 tier3 760 0 0 900 5 0.552486187845304 398 0 0 2 190054833 190054833 C A SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known 5_prime_flanking_region c.-10503 NULL 0.003 - - - no_errors COL5A2 HGNC ENSG00000204262 tier3 1393 0 0 1857 2 0.10752688172043 665 2 0.299850074962519 2 190091536 190091536 T G SNP COL5A2 ENST00000374866 human ensembl 70_37 -1 known 5_prime_flanking_region c.-47206 NULL 0.000 - - - no_errors COL5A2 HGNC ENSG00000204262 tier4 987 0 0 1368 2 0.145985401459854 467 1 0.213675213675214 2 190324644 190324644 T A SNP WDR75 ENST00000314761 human ensembl 70_37 +1 known intronic c.778+494 e8+494 0.000 - - - no_errors WDR75 HGNC ENSG00000115368 tier4 2017 0 0 1583 1249 44.1031073446328 661 135 16.9597989949749 2 190412755 190412755 C A SNP SLC40A1 ENST00000261024 human ensembl 70_37 -1 known 3_prime_flanking_region c.*13849 NULL 0.015 - - - no_errors SLC40A1 HGNC ENSG00000138449 tier3 912 0 0 1262 3 0.237154150197628 430 3 0.69284064665127 2 191312789 191312789 T G SNP MFSD6 ENST00000281416 human ensembl 70_37 +1 known intronic c.1532+10502 e1+10502 0.000 - - - no_errors MFSD6 HGNC ENSG00000151690 tier3 952 0 0 1428 3 0.209643605870021 420 2 0.4739336492891 2 192401934 192401934 C G SNP - - - - - - - - - - - - - - - - - - tier4 394 0 0 518 2 0.384615384615385 235 1 0.423728813559322 2 192405579 192405579 C T SNP - - - - - - - - - - - - - - - - - - tier3 498 2 0.4 351 373 51.5193370165746 262 55 17.3501577287066 2 192669910 192669910 A G SNP ENSG00000225884 ENST00000413304 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors AC098872.3 Clone_based_vega_gene ENSG00000225884 tier3 913 0 0 1271 3 0.235478806907378 460 5 1.07066381156317 2 193333003 193333003 A G SNP - - - - - - - - - - - - - - - - - - tier3 836 0 0 610 430 41.3461538461538 353 83 19.0366972477064 2 193695569 193695569 G A SNP - - - - - - - - - - - - - - - - - - tier4 1534 1 0.0651465798045603 1035 842 44.8349307774228 511 113 17.8233438485804 2 196048141 196048141 A C SNP - - - - - - - - - - - - - - - - - - tier4 761 0 0 1032 5 0.482160077145612 330 1 0.302114803625378 2 196126690 196126690 T C SNP - - - - - - - - - - - - - - - - - - tier4 1285 0 0 1889 3 0.158562367864693 558 0 0 2 196372554 196372554 T G SNP ENSG00000223466 ENST00000452381 human ensembl 70_37 +1 known 5_prime_flanking_region c.-25205 NULL 0.187 - - - no_errors AC064834.2 Clone_based_vega_gene ENSG00000223466 tier4 492 0 0 741 2 0.269179004037685 353 4 1.12044817927171 2 197006572 197006572 T G SNP STK17B ENST00000263955 human ensembl 70_37 -1 known intronic c.608-551 e5-551 0.000 - - - no_errors STK17B HGNC ENSG00000081320 tier3 1084 0 0 1652 3 0.181159420289855 511 0 0 2 197178512 197178512 G C SNP HECW2 ENST00000260983 human ensembl 70_37 -1 known intronic c.2434+3486 e9+3486 0.003 - - - no_errors HECW2 HGNC ENSG00000138411 tier4 1208 0 0 1871 2 0.106666666666667 333 0 0 2 198206536 198206536 G T SNP ANKRD44 ENST00000409153 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31208 NULL 0.003 - - - no_errors ANKRD44 HGNC ENSG00000065413 tier4 667 0 0 1039 2 0.191938579654511 324 0 0 2 199296998 199296998 G A SNP PLCL1 ENST00000472193 human ensembl 70_37 +1 known intronic c.NULL NULL 0.006 - - - no_errors PLCL1 HGNC ENSG00000115896 tier4 1059 0 0 732 684 48.2709950599859 514 88 14.6179401993355 2 199348660 199348660 C G SNP PLCL1 ENST00000472193 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors PLCL1 HGNC ENSG00000115896 tier3 1082 1 0.0923361034164358 775 569 42.2734026745914 490 96 16.382252559727 2 199759759 199759759 G A SNP ENSG00000231557 ENST00000456031 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.242 - - - no_errors AC018717.1 Clone_based_vega_gene ENSG00000231557 tier4 945 0 0 1221 3 0.244299674267101 523 0 0 2 200137506 200137506 G A SNP SATB2 ENST00000260926 human ensembl 70_37 -1 known intronic c.1741-111 e10-111 0.000 - - - no_errors SATB2 HGNC ENSG00000119042 tier3 1383 0 0 868 684 44.015444015444 606 105 14.7679324894515 2 200897450 200897450 A C SNP C2orf47 ENST00000435773 human ensembl 70_37 +1 putative 3_prime_flanking_region c.*24247 NULL 0.000 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C2orf47 HGNC ENSG00000162972 tier4 1504 0 0 1947 4 0.204813108038914 571 5 0.868055555555556 2 201634962 201634962 T C SNP AOX2P ENST00000467645 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors AOX2P HGNC ENSG00000243478 tier3 654 0 0 935 2 0.213447171824973 321 1 0.31055900621118 2 201682954 201682954 T C SNP BZW1 ENST00000409600 human ensembl 70_37 +1 known silent c.657 p.F219 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 tier1 841 0 0 1306 4 0.305343511450382 416 0 0 2 201818093 201818093 G A SNP ORC2 ENST00000234296 human ensembl 70_37 -1 known intronic c.239-3727 e3-3727 0.156 - - - no_errors ORC2 HGNC ENSG00000115942 tier3 488 0 0 747 3 0.399467376830892 254 0 0 2 201916270 201916270 A C SNP FAM126B ENST00000418596 human ensembl 70_37 -1 known intronic c.1-5954 e1-5954 0.188 - - - no_errors FAM126B HGNC ENSG00000155744 tier4 791 0 0 1209 2 0.165152766308836 345 2 0.576368876080692 2 202348612 202348612 A C SNP TRAK2 ENST00000332624 human ensembl 70_37 -1 known 5_prime_flanking_region c.-63382 NULL 0.148 - - - no_errors TRAK2 HGNC ENSG00000115993 tier4 718 0 0 1028 5 0.484027105517909 334 0 0 2 203191740 203191740 A G SNP BMPR2 ENST00000374580 human ensembl 70_37 +1 known 5_prime_flanking_region c.-50458 NULL 0.002 - - - no_errors BMPR2 HGNC ENSG00000204217 tier4 1863 4 0.214132762312634 1738 1449 45.4659554439912 456 131 22.3168654173765 2 203386547 203386547 A C SNP BMPR2 ENST00000374580 human ensembl 70_37 +1 known intronic c.967+1623 e7+1623 0.022 - - - no_errors BMPR2 HGNC ENSG00000204217 tier4 798 0 0 1195 3 0.250208507089241 399 0 0 2 203557714 203557714 C A SNP FAM117B ENST00000392238 human ensembl 70_37 +1 known intronic c.602-2890 e2-2890 0.342 - - - no_errors FAM117B HGNC ENSG00000138439 tier4 1540 0 0 2523 9 0.355309909198579 694 1 0.143884892086331 2 204738837 204738837 A C SNP CTLA4 ENST00000302823 human ensembl 70_37 +1 known 3_prime_flanking_region c.*1302 NULL 0.005 - - - no_errors CTLA4 HGNC ENSG00000163599 tier3 974 0 0 1366 2 0.146198830409357 437 2 0.453514739229025 2 206248435 206248435 A T SNP PARD3B ENST00000406610 human ensembl 70_37 +1 known intronic c.2631-17302 e19-17302 0.000 - - - no_errors PARD3B HGNC ENSG00000116117 tier4 1232 0 0 926 718 43.6739659367397 476 120 20.066889632107 2 206679955 206679955 A C SNP NRP2 ENST00000360409 human ensembl 70_37 +1 known 3_prime_flanking_region c.*20173 NULL 0.000 - - - no_errors NRP2 HGNC ENSG00000118257 tier3 546 0 0 722 2 0.275862068965517 225 1 0.442477876106195 2 207213742 207213742 A G SNP ENSG00000269633 ENST00000598562 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-6721 NULL 0.514 - - - no_errors AC017081.1 Clone_based_ensembl_gene ENSG00000269633 tier4 496 0 0 362 340 48.4330484330484 261 61 18.944099378882 2 207631281 207631281 A C SNP FASTKD2 ENST00000236980 human ensembl 70_37 +1 known intronic c.1-87 e1-87 0.000 - - - no_errors FASTKD2 HGNC ENSG00000118246 tier3 2436 0 0 3495 2 0.0571755288736421 839 0 0 2 209113112 209113112 C T SNP IDH1 ENST00000345146 human ensembl 70_37 -1 known missense c.395 p.R132H 1.000 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH1 HGNC ENSG00000138413 tier1 1034 1 0.0966183574879227 1012 517 33.8129496402878 572 0 0 2 209113112 209113112 C T SNP IDH1 ENST00000345146 human ensembl 70_37 -1 known missense c.395 p.R132H 1.000 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH1 HGNC ENSG00000138413 tier1 1279 1 0.078125 1154 571 33.1014492753623 783 0 0 2 210048597 210048597 G A SNP MEAF6P1 ENST00000416092 human ensembl 70_37 +1 known 3_prime_flanking_region c.*1855 NULL 0.005 - - - no_coding_region:pseudogene MEAF6P1 HGNC ENSG00000240286 tier4 1020 0 0 820 407 33.1703341483293 523 0 0 2 210784579 210784579 G C SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known intronic c.5145+1192 e32+1192 0.001 - - - no_errors UNC80 HGNC ENSG00000144406 tier3 473 0 0 660 3 0.452488687782805 257 3 1.14942528735632 2 211376560 211376560 A G SNP CPS1 ENST00000430249 human ensembl 70_37 +1 known intronic c.3+34070 e1+34070 0.001 - - - no_errors CPS1 HGNC ENSG00000021826 tier3 1022 0 0 735 552 42.7906976744186 412 91 18.0914512922465 2 211441150 211441150 C A SNP CPS1 ENST00000430249 human ensembl 70_37 +1 known missense c.335 p.A112D 0.076 pfam_CarbamoylP_synth_ssu_N,superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 1334 1 0.0748502994011976 977 902 47.9787234042553 492 116 19.0789473684211 2 211441150 211441150 C A SNP CPS1 ENST00000430249 human ensembl 70_37 +1 known missense c.335 p.A112D 0.076 pfam_CarbamoylP_synth_ssu_N,superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 1797 1 0.0555864369093941 1179 1052 47.1326164874552 882 183 17.1830985915493 2 212689658 212689658 C A SNP ERBB4 ENST00000342788 human ensembl 70_37 -1 known intronic c.422-36774 e4-36774 0.000 - - - no_errors ERBB4 HGNC ENSG00000178568 tier3 1454 1 0.0687285223367698 1918 1 0.0520833333333333 633 68 9.70042796005706 2 213337968 213337968 T G SNP ERBB4 ENST00000342788 human ensembl 70_37 -1 known intronic c.82+65205 e1+65205 0.000 - - - no_errors ERBB4 HGNC ENSG00000178568 tier3 965 0 0 1220 2 0.16366612111293 475 0 0 2 214177807 214177807 G T SNP SPAG16 ENST00000331683 human ensembl 70_37 +1 known intronic c.398+2906 e4+2906 0.004 - - - no_errors SPAG16 HGNC ENSG00000144451 tier3 1294 1 0.0772200772200772 1601 23 1.41625615763547 497 118 19.1869918699187 2 215156625 215156625 T C SNP SPAG16 ENST00000331683 human ensembl 70_37 +1 known intronic c.1721-118239 e16-118239 0.019 - - - no_errors SPAG16 HGNC ENSG00000144451 tier4 861 0 0 1098 1 0.0909918107370337 476 34 6.640625 2 216244843 216244843 C G SNP FN1 ENST00000492816 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-216244843 NULL 0.996 - - - no_coding_region FN1 HGNC ENSG00000115414 tier2 580 0 0 830 3 0.360144057623049 309 0 0 2 216394053 216394053 A C SNP ENSG00000237525 ENST00000417485 human ensembl 70_37 +1 known 5_prime_flanking_region c.-16868 NULL 0.020 - - - no_errors AC012668.2 Clone_based_vega_gene ENSG00000237525 tier4 476 0 0 671 2 0.297176820208024 259 4 1.52091254752852 2 217029428 217029428 T G SNP XRCC5 ENST00000392132 human ensembl 70_37 +1 known intronic c.1834+2657 e16+2657 0.001 - - - no_errors XRCC5 HGNC ENSG00000079246 tier3 1450 0 0 2079 2 0.0961076405574243 568 0 0 2 217303724 217303724 T G SNP SMARCAL1 ENST00000357276 human ensembl 70_37 +1 known intronic c.1710+516 e8+516 0.001 - - - no_errors SMARCAL1 HGNC ENSG00000138375 tier3 863 0 0 1311 2 0.152091254752852 373 0 0 2 217767632 217767632 G A SNP ENSG00000236886 ENST00000447289 human ensembl 70_37 +1 known intronic c.NULL NULL 0.369 - - - no_errors AC007563.5 Clone_based_vega_gene ENSG00000236886 tier4 1858 2 0.107411385606874 2336 3 0.128259940145361 646 38 5.50724637681159 2 219406055 219406055 T G SNP USP37 ENST00000258399 human ensembl 70_37 -1 known intronic c.680+4889 e5+4889 0.113 - - - no_errors USP37 HGNC ENSG00000135913 tier4 1006 0 0 1626 5 0.306372549019608 492 0 0 2 220364903 220364903 T G SNP GMPPA ENST00000313597 human ensembl 70_37 +1 known missense c.101 p.V34G 1.000 pfam_NTP_transferase pfam_NTP_transferase - no_errors GMPPA HGNC ENSG00000144591 tier1 495 0 0 738 3 0.404858299595142 293 0 0 2 221263667 221263667 A T SNP ENSG00000239498 ENST00000432993 human ensembl 70_37 +1 known intronic c.NULL NULL 0.011 - - - no_errors AC114765.1 Clone_based_vega_gene ENSG00000239498 tier4 624 0 0 750 2 0.265604249667995 394 0 0 2 222245573 222245573 C G SNP EPHA4 ENST00000281821 human ensembl 70_37 -1 known 3_prime_flanking_region c.*45175 NULL 0.000 - - - no_errors EPHA4 HGNC ENSG00000116106 tier3 672 0 0 906 2 0.220264317180617 316 3 0.9375 2 222701517 222701517 G T SNP - - - - - - - - - - - - - - - - - - tier3 682 0 0 943 5 0.527426160337553 350 4 1.12359550561798 2 222814356 222814356 T A SNP HSPA9P1 ENST00000432228 human ensembl 70_37 +1 known 5_prime_flanking_region c.-12100 NULL 0.001 - - - no_coding_region:pseudogene HSPA9P1 HGNC ENSG00000226666 tier3 953 0 0 593 486 45 406 115 22.0729366602687 2 222817694 222817694 G T SNP HSPA9P1 ENST00000432228 human ensembl 70_37 +1 known 5_prime_flanking_region c.-8762 NULL 0.036 - - - no_coding_region:pseudogene HSPA9P1 HGNC ENSG00000226666 tier4 531 0 0 684 3 0.436681222707424 190 0 0 2 223182765 223182765 G A SNP ENSG00000267034 ENST00000587099 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-384O8.1 Clone_based_vega_gene ENSG00000267034 tier1 1092 0 0 1438 2 0.138888888888889 532 0 0 2 223719975 223719975 G C SNP ACSL3 ENST00000357430 human ensembl 70_37 +1 known 5_prime_flanking_region c.-53516 NULL 0.044 - - - no_errors ACSL3 HGNC ENSG00000123983 tier4 810 0 0 1156 2 0.172711571675302 342 1 0.286532951289398 2 225398190 225398190 G A SNP CUL3 ENST00000264414 human ensembl 70_37 -1 known intronic c.378+2055 e3+2055 0.000 - - - no_errors CUL3 HGNC ENSG00000036257 tier4 1379 0 0 2117 3 0.141509433962264 730 2 0.273224043715847 2 225934211 225934211 T G SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known 5_prime_flanking_region c.-27120 NULL 0.000 - - - no_errors DOCK10 HGNC ENSG00000135905 tier4 1805 0 0 2710 2 0.0737463126843658 812 0 0 2 226840533 226840533 G T SNP ENSG00000230621 ENST00000412635 human ensembl 70_37 -1 known 3_prime_flanking_region c.*17164 NULL 0.002 - - - no_coding_region:pseudogene AC080002.1 Clone_based_vega_gene ENSG00000230621 tier4 453 0 0 603 2 0.330578512396694 216 0 0 2 228363907 228363907 T G SNP AGFG1 ENST00000409979 human ensembl 70_37 +1 known intronic c.261+7551 e2+7551 0.004 - - - no_errors AGFG1 HGNC ENSG00000173744 tier4 1428 0 0 2126 3 0.140911225927666 784 0 0 2 229313478 229313478 G T SNP ENSG00000232023 ENST00000432481 human ensembl 70_37 -1 known 3_prime_flanking_region c.*34499 NULL 0.001 - - - no_errors AC009410.1 Clone_based_vega_gene ENSG00000232023 tier4 986 0 0 1247 3 0.24 485 0 0 2 230429858 230429858 T G SNP DNER ENST00000341772 human ensembl 70_37 -1 known intronic c.848-18050 e5-18050 0.001 - - - no_errors DNER HGNC ENSG00000187957 tier3 1056 0 0 1435 2 0.139178844815588 406 1 0.245700245700246 2 233910442 233910442 A T SNP INPP5D ENST00000359570 human ensembl 70_37 +1 known 5_prime_flanking_region c.-14747 NULL 0.000 - - - no_errors INPP5D HGNC ENSG00000168918 tier4 524 0 0 419 383 47.7556109725686 234 43 15.5234657039711 2 234225401 234225401 A G SNP SAG ENST00000409110 human ensembl 70_37 +1 known intronic c.136+620 e2+620 0.001 - - - no_errors SAG HGNC ENSG00000130561 tier4 742 0 0 553 457 45.2027695351138 338 54 13.7755102040816 2 234922943 234922943 C G SNP TRPM8 ENST00000324695 human ensembl 70_37 +1 known intronic c.3265-263 e24-263 0.037 - - - no_errors TRPM8 HGNC ENSG00000144481 tier3 1438 0 0 1236 542 30.4836895388077 633 0 0 2 235081278 235081278 A G SNP - - - - - - - - - - - - - - - - - - tier3 1437 0 0 1324 565 29.9100052938062 657 0 0 2 235141699 235141699 A C SNP ENSG00000261298 ENST00000565664 human ensembl 70_37 +1 known 3_prime_flanking_region c.*9114 NULL 0.001 - - - no_errors RP11-309M7.1 Clone_based_vega_gene ENSG00000261298 tier3 563 0 0 766 3 0.390117035110533 305 2 0.651465798045603 2 236651216 236651216 C G SNP AGAP1 ENST00000304032 human ensembl 70_37 +1 known intronic c.396+1524 e4+1524 0.004 - - - no_errors AGAP1 HGNC ENSG00000157985 tier3 1002 0 0 1339 2 0.149142431021626 419 2 0.475059382422803 2 236753763 236753763 C T SNP AGAP1 ENST00000304032 human ensembl 70_37 +1 known intronic c.1050+37788 e9+37788 0.000 - - - no_errors AGAP1 HGNC ENSG00000157985 tier3 762 0 0 485 427 46.8201754385965 305 74 19.5250659630607 2 239437113 239437113 G A SNP LOC151171 ENST00000446979 human ensembl 70_37 -1 known intronic c.NULL NULL 0.004 - - - no_errors AC092619.1 Clone_based_vega_gene ENSG00000225493 tier4 1692 1 0.0590318772136954 1221 1175 49.0400667779633 485 107 18.0743243243243 2 239639442 239639442 C T SNP ENSG00000234279 ENST00000448543 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors AC113618.1 Clone_based_vega_gene ENSG00000234279 tier3 1064 1 0.0938967136150235 833 567 40.4710920770878 470 90 16.0714285714286 2 241407223 241407223 A C SNP GPC1 ENST00000264039 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*1516 NULL 0.000 - - - no_errors GPC1 HGNC ENSG00000063660 tier3 382 0 0 480 2 0.4149377593361 191 1 0.520833333333333 2 242588212 242588212 A G SNP ATG4B ENST00000404914 human ensembl 70_37 +1 known intronic c.11-2213 e2-2213 0.000 - - - no_errors ATG4B HGNC ENSG00000168397 tier3 777 0 0 601 543 47.465034965035 282 64 18.4971098265896 3 304571 304571 C T SNP CHL1 ENST00000256509 human ensembl 70_37 +1 known intronic c.1+18196 e0+18196 0.000 - - - no_errors CHL1 HGNC ENSG00000134121 tier3 1088 0 0 766 581 43.1328878990349 417 69 14.1975308641975 3 704896 704896 C T SNP ENSG00000224957 ENST00000420823 human ensembl 70_37 +1 known intronic c.NULL NULL 0.003 - - - no_errors AC090044.1 Clone_based_vega_gene ENSG00000224957 tier4 755 2 0.264200792602378 576 562 49.3848857644991 321 92 22.2760290556901 3 1077595 1077595 C T SNP ENSG00000235158 ENST00000451707 human ensembl 70_37 +1 known 3_prime_flanking_region c.*22977 NULL 0.001 - - - no_errors AC087430.1 Clone_based_vega_gene ENSG00000235158 tier3 1199 1 0.0832639467110741 894 729 44.916820702403 513 101 16.4495114006515 3 2346187 2346187 C A SNP CNTN4 ENST00000397461 human ensembl 70_37 +1 known intronic c.1-34675 e1-34675 0.000 - - - no_errors CNTN4 HGNC ENSG00000144619 tier3 1498 1 0.066711140760507 1741 2 0.114678899082569 587 30 4.84652665589661 3 2525944 2525944 G A SNP CNTN4 ENST00000397461 human ensembl 70_37 +1 known intronic c.1-87156 e1-87156 0.674 - - - no_errors CNTN4 HGNC ENSG00000144619 tier4 620 0 0 438 395 47.4189675870348 233 46 16.3701067615658 3 2886820 2886820 C A SNP CNTN4 ENST00000397461 human ensembl 70_37 +1 known intronic c.455-21616 e5-21616 0.000 - - - no_errors CNTN4 HGNC ENSG00000144619 tier4 466 0 0 660 3 0.452488687782805 198 3 1.49253731343284 3 3079678 3079678 T C SNP CNTN4 ENST00000397461 human ensembl 70_37 +1 known intronic c.2092+666 e15+666 0.000 - - - no_errors CNTN4 HGNC ENSG00000144619 tier3 596 0 0 858 1 0.116414435389988 293 3 1.01351351351351 3 3679122 3679122 T G SNP ENSG00000223727 ENST00000420000 human ensembl 70_37 -1 known 5_prime_flanking_region c.-10142 NULL 0.009 - - - no_errors AC026188.1 Clone_based_vega_gene ENSG00000223727 tier3 1030 1 0.0968992248062015 1361 4 0.292825768667643 492 9 1.79640718562874 3 3780815 3780815 G A SNP SUMF1 ENST00000470751 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors SUMF1 HGNC ENSG00000144455 tier4 2719 4 0.146842878120411 3688 4 0.108283703302653 897 51 5.35714285714286 3 5343780 5343780 C G SNP ENSG00000230944 ENST00000443087 human ensembl 70_37 -1 known 5_prime_flanking_region c.-45334 NULL 0.000 - - - no_errors AC026202.5 Clone_based_vega_gene ENSG00000230944 tier2 669 0 0 995 4 0.4004004004004 369 1 0.268096514745308 3 5410147 5410147 T G SNP - - - - - - - - - - - - - - - - - - tier3 1300 0 0 1923 2 0.103788271925272 584 1 0.170940170940171 3 5417149 5417149 T G SNP - - - - - - - - - - - - - - - - - - tier4 728 0 0 1003 2 0.198609731876862 353 4 1.1142061281337 3 6123820 6123820 T C SNP ENSG00000229642 ENST00000425894 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors AC027119.1 Clone_based_vega_gene ENSG00000229642 tier3 726 0 0 961 2 0.207684319833853 356 0 0 3 6758083 6758083 T C SNP GRM7-AS3 ENST00000412629 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors GRM7-AS3 HGNC ENSG00000226258 tier4 1683 0 0 2192 2 0.0911161731207289 715 4 0.556328233657858 3 8067158 8067158 C T SNP LMCD1-AS1 ENST00000446281 human ensembl 70_37 -1 known intronic c.NULL NULL 0.002 - - - no_errors LMCD1-AS1 HGNC ENSG00000227110 tier4 1019 0 0 1252 5 0.39714058776807 464 3 0.639658848614072 3 8462049 8462049 T G SNP LMCD1-AS1 ENST00000420095 human ensembl 70_37 -1 known intronic c.NULL NULL 0.034 - - - no_errors LMCD1-AS1 HGNC ENSG00000227110 tier3 1046 0 0 748 637 45.9927797833935 413 115 21.780303030303 3 8508278 8508278 T C SNP LMCD1-AS1 ENST00000420095 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors LMCD1-AS1 HGNC ENSG00000227110 tier3 1060 0 0 1419 3 0.210970464135021 479 0 0 3 9708548 9708548 C T SNP MTMR14 ENST00000296003 human ensembl 70_37 +1 known intronic c.418-1855 e4-1855 0.001 - - - no_errors MTMR14 HGNC ENSG00000163719 tier3 722 0 0 595 500 45.662100456621 357 89 19.9551569506726 3 9726788 9726788 A C SNP MTMR14 ENST00000296003 human ensembl 70_37 +1 known intronic c.1128-107 e13-107 0.004 - - - no_errors MTMR14 HGNC ENSG00000163719 tier3 448 0 0 687 4 0.578871201157742 226 6 2.56410256410256 3 11325931 11325931 G T SNP ATG7 ENST00000354449 human ensembl 70_37 +1 known intronic c.1+11815 e0+11815 0.002 - - - no_errors ATG7 HGNC ENSG00000197548 tier3 911 0 0 1477 2 0.135226504394861 468 1 0.213219616204691 3 12037105 12037105 T C SNP SYN2 ENST00000540660 human ensembl 70_37 +1 known 5_prime_flanking_region c.-8921 NULL 0.000 - - - no_errors SYN2 HGNC ENSG00000157152 tier4 926 0 0 1269 3 0.2356637863315 448 4 0.881057268722467 3 12113572 12113572 T A SNP SYN2 ENST00000540660 human ensembl 70_37 +1 known intronic c.173+67144 e2+67144 0.822 - - - no_errors SYN2 HGNC ENSG00000157152 tier3 2576 0 0 3758 2 0.0531773464504121 932 2 0.213675213675214 3 12155214 12155214 G A SNP SYN2 ENST00000540660 human ensembl 70_37 +1 known intronic c.174-26937 e3-26937 0.010 - - - no_errors SYN2 HGNC ENSG00000157152 tier4 1127 0 0 938 597 38.8671875 511 107 17.2859450726979 3 12297744 12297744 G A SNP PPARG ENST00000309576 human ensembl 70_37 +1 known 5_prime_flanking_region c.-123461 NULL 0.006 - - - no_errors PPARG HGNC ENSG00000132170 tier4 70 0 0 101 2 1.94174757281553 31 0 0 3 12312903 12312903 T G SNP PPARG ENST00000309576 human ensembl 70_37 +1 known 5_prime_flanking_region c.-108302 NULL 0.001 - - - no_errors PPARG HGNC ENSG00000132170 tier3 432 0 0 537 3 0.555555555555556 162 1 0.613496932515337 3 13683798 13683798 G C SNP LINC00620 ENST00000419618 human ensembl 70_37 +1 known 5_prime_flanking_region c.-8423 NULL 0.001 - - - no_errors LINC00620 HGNC ENSG00000224514 tier4 290 0 0 347 2 0.573065902578797 149 0 0 3 15424486 15424486 A G SNP METTL6 ENST00000443029 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*28277 NULL 0.251 - - - no_errors METTL6 HGNC ENSG00000206562 tier4 977 0 0 1559 3 0.191815856777494 505 0 0 3 15425909 15425909 G A SNP METTL6 ENST00000443029 human ensembl 70_37 -1 known intronic c.855-215 e6-215 0.037 - - - no_errors METTL6 HGNC ENSG00000206562 tier4 1051 0 0 1663 2 0.120048019207683 567 0 0 3 16300871 16300871 T G SNP DPH3 ENST00000488423 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*1400 NULL 0.000 - - - no_errors DPH3 HGNC ENSG00000154813 tier3 629 0 0 857 2 0.232828870779977 359 0 0 3 17597355 17597355 C A SNP TBC1D5 ENST00000253692 human ensembl 70_37 -1 known intronic c.1-47258 e1-47258 0.073 - - - no_errors TBC1D5 HGNC ENSG00000131374 tier4 448 0 0 573 1 0.173913043478261 218 4 1.8018018018018 3 18231775 18231775 T G SNP TBC1D5 ENST00000414318 human ensembl 70_37 -1 known intronic c.NULL NULL 1.000 - - - overly_large_intron TBC1D5 HGNC ENSG00000131374 tier3 1013 0 0 1370 3 0.21849963583394 543 0 0 3 19628846 19628846 C T SNP - - - - - - - - - - - - - - - - - - tier4 994 0 0 692 838 54.7712418300654 377 129 25.3937007874016 3 19938978 19938978 T C SNP EFHB ENST00000295824 human ensembl 70_37 -1 known intronic c.1571-645 e9-645 0.000 - - - no_errors EFHB HGNC ENSG00000163576 tier3 308 0 0 431 2 0.46189376443418 123 0 0 3 20076276 20076276 A C SNP KAT2B ENST00000263754 human ensembl 70_37 +1 known 5_prime_flanking_region c.-5694 NULL 0.001 - - - no_errors KAT2B HGNC ENSG00000114166 tier4 625 0 0 1017 3 0.294117647058824 327 0 0 3 21335704 21335704 C A SNP - - - - - - - - - - - - - - - - - - tier3 1448 0 0 1854 25 1.32978723404255 458 102 18.2142857142857 3 22984923 22984923 T A SNP SALL4P5 ENST00000419001 human ensembl 70_37 +1 known 5_prime_flanking_region c.-46391 NULL 0.041 - - - no_coding_region:pseudogene SALL4P5 HGNC ENSG00000231915 tier4 296 0 0 406 3 0.733496332518337 87 0 0 3 23877224 23877224 T C SNP UBE2E1 ENST00000306627 human ensembl 70_37 +1 known intronic c.203+24223 e2+24223 0.000 - - - no_errors UBE2E1 HGNC ENSG00000170142 tier3 1786 0 0 2938 2 0.0680272108843537 832 0 0 3 24327251 24327251 T C SNP THRB ENST00000356447 human ensembl 70_37 -1 known intronic c.1+51540 e0+51540 0.000 - - - no_errors THRB HGNC ENSG00000151090 tier3 1047 0 0 1213 1 0.0823723228995058 473 8 1.66320166320166 3 25909187 25909187 C T SNP ENSG00000230891 ENST00000496997 human ensembl 70_37 -1 known intronic c.NULL NULL 0.037 - - - no_errors AC103588.1 Clone_based_vega_gene ENSG00000230891 tier3 974 0 0 1312 35 2.59836674090572 453 4 0.87527352297593 3 26119407 26119407 G T SNP - - - - - - - - - - - - - - - - - - tier3 2059 1 0.0485436893203883 2810 4 0.141995030173944 735 114 13.4275618374558 3 26333792 26333792 A G SNP - - - - - - - - - - - - - - - - - - tier3 1295 0 0 1646 2 0.121359223300971 525 3 0.568181818181818 3 26883381 26883381 G T SNP - - - - - - - - - - - - - - - - - - tier4 1598 1 0.0624219725343321 1978 1 0.0505050505050505 377 39 9.33014354066986 3 27127263 27127263 G A SNP NEK10 ENST00000383771 human ensembl 70_37 -1 known 3_prime_flanking_region c.*25500 NULL 0.000 - - - no_errors NEK10 HGNC ENSG00000163491 tier3 961 2 0.20746887966805 606 489 44.6167883211679 450 94 17.1532846715328 3 27911622 27911622 G T SNP ENSG00000225548 ENST00000414382 human ensembl 70_37 +1 known intronic c.NULL NULL 0.003 - - - no_errors AC098973.2 Clone_based_vega_gene ENSG00000225548 tier3 1094 0 0 1458 5 0.341763499658236 423 3 0.704225352112676 3 28236357 28236357 G A SNP CMC1 ENST00000466830 human ensembl 70_37 +1 known 5_prime_flanking_region c.-46928 NULL 0.001 - - - no_errors CMC1 HGNC ENSG00000187118 tier4 1323 0 0 960 706 42.3769507803121 479 89 15.669014084507 3 29566305 29566305 A G SNP RBMS3 ENST00000383767 human ensembl 70_37 +1 known intronic c.307+36315 e3+36315 0.047 - - - no_errors RBMS3 HGNC ENSG00000144642 tier4 2130 0 0 2850 3 0.105115627189909 787 0 0 3 29636150 29636150 T G SNP RBMS3 ENST00000383767 human ensembl 70_37 +1 known intronic c.399+7454 e4+7454 0.000 - - - no_errors RBMS3 HGNC ENSG00000144642 tier3 791 0 0 1156 5 0.429922613929493 357 3 0.833333333333333 3 31777615 31777615 A G SNP OSBPL10 ENST00000396556 human ensembl 70_37 -1 known intronic c.941-2712 e6-2712 0.000 - - - no_errors OSBPL10 HGNC ENSG00000144645 tier4 1371 0 0 2076 2 0.0962463907603465 600 1 0.166389351081531 3 32029103 32029103 T G SNP ZNF860 ENST00000360311 human ensembl 70_37 +1 known intronic c.1-1049 e1-1049 0.017 - - - no_errors ZNF860 HGNC ENSG00000197385 tier4 481 0 0 328 288 46.677471636953 229 50 17.921146953405 3 32422231 32422231 T G SNP CMTM7 ENST00000334983 human ensembl 70_37 +1 known 5_prime_flanking_region c.-11168 NULL 0.015 - - - no_errors CMTM7 HGNC ENSG00000153551 tier4 1011 0 0 1457 2 0.137080191912269 549 0 0 3 32468588 32468588 A C SNP CMTM7 ENST00000334983 human ensembl 70_37 +1 known intronic c.160-14744 e2-14744 0.001 - - - no_errors CMTM7 HGNC ENSG00000153551 tier4 661 0 0 1136 2 0.175746924428822 331 2 0.600600600600601 3 33190090 33190090 C T SNP SUSD5 ENST00000309558 human ensembl 70_37 -1 known 3_prime_flanking_region c.*4144 NULL 0.000 - - - no_errors SUSD5 HGNC ENSG00000173705 tier4 1012 0 0 1352 215 13.7117346938776 613 0 0 3 33202986 33202986 C A SNP SUSD5 ENST00000309558 human ensembl 70_37 -1 known intronic c.599-7461 e5-7461 0.002 - - - no_errors SUSD5 HGNC ENSG00000173705 tier4 1361 0 0 1915 2 0.104329681794471 571 0 0 3 33396173 33396173 C T SNP FBXL2 ENST00000484457 human ensembl 70_37 +1 known intronic c.66-4286 e3-4286 0.504 - - - no_errors FBXL2 HGNC ENSG00000153558 tier4 1235 0 0 1918 2 0.104166666666667 635 0 0 3 35889008 35889008 A C SNP ENSG00000226489 ENST00000454621 human ensembl 70_37 +1 known 5_prime_flanking_region c.-24350 NULL 0.031 - - - no_coding_region:pseudogene AC104308.2 Clone_based_vega_gene ENSG00000226489 tier4 1635 0 0 2266 4 0.176211453744493 527 0 0 3 37817825 37817825 T A SNP ITGA9 ENST00000264741 human ensembl 70_37 +1 known intronic c.2542-1058 e24-1058 0.028 - - - no_errors ITGA9 HGNC ENSG00000144668 tier4 1868 0 0 2750 2 0.0726480203414457 646 4 0.613496932515337 3 38500402 38500402 T G SNP ACVR2B ENST00000352511 human ensembl 70_37 +1 known intronic c.52+4537 e1+4537 0.000 - - - no_errors ACVR2B HGNC ENSG00000114739 tier4 815 0 0 1262 1 0.0791765637371338 317 5 1.5527950310559 3 40274402 40274402 C T SNP MYRIP ENST00000302541 human ensembl 70_37 +1 known intronic c.1906-948 e11-948 0.000 - - - no_errors MYRIP HGNC ENSG00000170011 tier4 854 1 0.116686114352392 559 433 43.6491935483871 379 80 17.4291938997821 3 43028951 43028951 T G SNP FAM198A ENST00000273146 human ensembl 70_37 +1 known intronic c.3+7814 e1+7814 0.000 - - - no_errors FAM198A HGNC ENSG00000144649 tier4 230 0 0 319 3 0.928792569659443 196 2 1.01010101010101 3 43160958 43160958 G A SNP GTDC2 ENST00000344697 human ensembl 70_37 -1 known 5_prime_flanking_region c.-38035 NULL 0.001 - - - no_errors GTDC2 HGNC ENSG00000144647 tier3 1548 0 0 2052 1 0.0486854917234664 724 40 5.23560209424084 3 44186331 44186331 A C SNP MIR138-1 ENST00000385219 human ensembl 70_37 +1 known 3_prime_flanking_region c.*30529 NULL 0.000 - - - no_errors MIR138-1 HGNC ENSG00000207954 tier4 484 0 0 671 3 0.445103857566766 243 1 0.409836065573771 3 44528888 44528888 T C SNP ZNF445 ENST00000396077 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31847 NULL 0.020 - - - no_errors ZNF445 HGNC ENSG00000185219 tier4 447 0 0 751 2 0.26525198938992 261 0 0 3 45201264 45201264 C T SNP CDCP1 ENST00000296129 human ensembl 70_37 -1 known 5_prime_flanking_region c.-13485 NULL 0.863 - - - no_errors CDCP1 HGNC ENSG00000163814 tier3 700 0 0 523 444 45.9152016546019 320 65 16.8831168831169 3 45633448 45633448 A C SNP LIMD1 ENST00000465039 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors LIMD1 HGNC ENSG00000144791 tier3 878 0 0 1372 2 0.145454545454545 506 0 0 3 46502706 46502706 A C SNP LTF ENST00000231751 human ensembl 70_37 -1 known intronic c.44-1397 e2-1397 0.000 - - - no_errors LTF HGNC ENSG00000012223 tier4 731 0 0 1083 7 0.642201834862385 315 3 0.943396226415094 3 50808218 50808218 T G SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known intronic c.38-7888 e2-7888 0.219 - - - no_errors DOCK3 HGNC ENSG00000088538 tier4 471 0 0 749 2 0.266311584553928 252 1 0.393700787401575 3 51692689 51692689 T C SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known intronic c.3316+1004 e19+1004 0.001 - - - no_errors RAD54L2 HGNC ENSG00000164080 tier3 1356 0 0 1106 840 43.1654676258993 500 123 19.7431781701445 3 51954538 51954538 G A SNP PARP3 ENST00000398755 human ensembl 70_37 +1 known 5_prime_flanking_region c.-22168 NULL 0.037 - - - no_errors PARP3 HGNC ENSG00000041880 tier4 119 0 0 186 2 1.06382978723404 15 0 0 3 52275288 52275288 C A SNP TLR9 ENST00000597542 human ensembl 70_37 -1 known 5_prime_flanking_region c.-11537 NULL 0.698 - - - no_errors TLR9 HGNC ENSG00000239732 tier3 1156 0 0 930 855 47.8991596638655 490 68 12.1863799283154 3 53548819 53548819 T C SNP CACNA1D ENST00000288139 human ensembl 70_37 +1 known intronic c.483+13072 e3+13072 0.005 - - - no_errors CACNA1D HGNC ENSG00000157388 tier3 915 0 0 1329 3 0.225056264066016 389 0 0 3 53992090 53992090 T C SNP - - - - - - - - - - - - - - - - - - tier3 596 0 0 874 3 0.341685649202733 252 0 0 3 54934111 54934111 G A SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known intronic c.2449+216 e27+216 0.000 - - - no_errors CACNA2D3 HGNC ENSG00000157445 tier3 1382 0 0 977 812 45.3884851872555 593 124 17.2701949860724 3 54957975 54957975 C T SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known intronic c.2449+24080 e27+24080 0.000 - - - no_errors CACNA2D3 HGNC ENSG00000157445 tier4 684 0 0 507 475 48.3706720977597 319 59 15.6084656084656 3 54985325 54985325 C A SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known intronic c.2450-17152 e28-17152 0.000 - - - no_errors CACNA2D3 HGNC ENSG00000157445 tier3 596 0 0 757 2 0.263504611330698 295 1 0.337837837837838 3 55054701 55054701 A C SNP CACNA2D3 ENST00000288197 human ensembl 70_37 +1 known intronic c.2987+2357 e35+2357 0.026 - - - no_errors CACNA2D3 HGNC ENSG00000157445 tier4 357 0 0 496 2 0.401606425702811 88 0 0 3 55550382 55550382 T G SNP ERC2 ENST00000288221 human ensembl 70_37 -1 known intronic c.2874-5078 e17-5078 1.000 - - - no_errors ERC2 HGNC ENSG00000187672 tier2 1218 0 0 1398 2 0.14265335235378 619 0 0 3 55638001 55638001 A C SNP ERC2 ENST00000288221 human ensembl 70_37 -1 known intronic c.2874+79821 e16+79821 0.001 - - - no_errors ERC2 HGNC ENSG00000187672 tier3 539 0 0 684 2 0.291120815138282 292 0 0 3 58690351 58690351 T C SNP FAM3D ENST00000358781 human ensembl 70_37 -1 known 5_prime_flanking_region c.-49061 NULL 0.077 - - - no_errors FAM3D HGNC ENSG00000198643 tier4 115 0 0 146 2 1.35135135135135 61 0 0 3 59349707 59349707 C T SNP ENSG00000243903 ENST00000497258 human ensembl 70_37 -1 known 3_prime_flanking_region c.*16043 NULL 0.060 - - - no_errors RP11-285B24.1 Clone_based_vega_gene ENSG00000243903 tier4 1673 0 0 1950 282 12.6344086021505 784 2 0.254452926208651 3 59986565 59986565 G C SNP FHIT ENST00000341848 human ensembl 70_37 -1 known intronic c.279+10532 e3+10532 0.000 - - - no_errors FHIT HGNC ENSG00000189283 tier4 435 0 0 538 2 0.37037037037037 256 0 0 3 61628333 61628333 C T SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known intronic c.85+80287 e1+80287 0.000 - - - no_errors PTPRG HGNC ENSG00000144724 tier3 1241 0 0 1201 519 30.1744186046512 600 0 0 3 62016716 62016716 A G SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known intronic c.519+27545 e4+27545 0.002 - - - no_errors PTPRG HGNC ENSG00000144724 tier3 1496 0 0 2171 2 0.092038656235619 609 2 0.325732899022801 3 62323989 62323989 A G SNP LOC100506994 ENST00000490916 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-204J18.3 Clone_based_vega_gene ENSG00000241472 tier4 2009 0 0 2808 2 0.0711743772241993 606 0 0 3 62864831 62864831 T A SNP CADPS ENST00000383710 human ensembl 70_37 -1 known 5_prime_flanking_region c.-4127 NULL 0.961 - - - no_errors CADPS HGNC ENSG00000163618 tier3 613 0 0 778 3 0.384122919334187 278 0 0 3 64060458 64060458 G A SNP PRICKLE2-AS1 ENST00000482609 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-129B22.1 Clone_based_vega_gene ENSG00000241111 tier4 1496 1 0.066711140760507 1975 55 2.70536153467782 721 0 0 3 64316960 64316960 A G SNP PRICKLE2 ENST00000564377 human ensembl 70_37 -1 novel intronic c.128+113199 e2+113199 0.002 - - - no_errors PRICKLE2 HGNC ENSG00000163637 tier4 1202 0 0 1653 12 0.720720720720721 546 6 1.08695652173913 3 64749384 64749384 A G SNP ADAMTS9-AS2 ENST00000474768 human ensembl 70_37 +1 known intronic c.NULL NULL 0.005 - - - no_errors ADAMTS9-AS2 HGNC ENSG00000241684 tier3 423 0 0 476 3 0.625 190 0 0 3 65322438 65322438 C G SNP MAGI1 ENST00000402939 human ensembl 70_37 -1 known 3_prime_flanking_region c.*19615 NULL 0.005 - - - no_errors MAGI1 HGNC ENSG00000151276 tier4 648 0 0 553 224 28.8288288288288 358 0 0 3 66732975 66732975 T G SNP RPL21P41 ENST00000459863 human ensembl 70_37 +1 known 3_prime_flanking_region c.*45139 NULL 0.061 - - - no_coding_region:pseudogene RPL21P41 HGNC ENSG00000214560 tier4 1306 0 0 1815 2 0.110071546505228 592 0 0 3 66878982 66878982 T C SNP - - - - - - - - - - - - - - - - - - tier3 641 0 0 985 4 0.404448938321537 306 2 0.649350649350649 3 67384303 67384303 A G SNP SUCLG2 ENST00000307227 human ensembl 70_37 -1 known 3_prime_flanking_region c.*41865 NULL 0.000 - - - no_errors SUCLG2 HGNC ENSG00000172340 tier4 1820 0 0 2505 6 0.238853503184713 787 0 0 3 67390326 67390326 C A SNP SUCLG2 ENST00000307227 human ensembl 70_37 -1 known 3_prime_flanking_region c.*35842 NULL 0.132 - - - no_errors SUCLG2 HGNC ENSG00000172340 tier4 1077 0 0 711 589 45.2728670253651 384 70 15.4185022026432 3 67510272 67510272 G A SNP SUCLG2 ENST00000307227 human ensembl 70_37 -1 known intronic c.1062+35950 e9+35950 0.000 - - - no_errors SUCLG2 HGNC ENSG00000172340 tier4 974 0 0 650 477 42.3247559893523 409 89 17.8714859437751 3 67557953 67557953 T A SNP SUCLG2 ENST00000307227 human ensembl 70_37 -1 known intronic c.757+1278 e7+1278 0.001 - - - no_errors SUCLG2 HGNC ENSG00000172340 tier4 311 0 0 446 2 0.446428571428571 213 0 0 3 67945343 67945343 C T SNP ENSG00000241316 ENST00000482677 human ensembl 70_37 +1 known intronic c.NULL NULL 0.043 - - - no_errors RP11-81N13.1 Clone_based_vega_gene ENSG00000241316 tier4 1260 0 0 838 743 46.9955724225174 348 101 22.3946784922395 3 70990785 70990785 T C SNP FOXP1 ENST00000318789 human ensembl 70_37 -1 known 3_prime_flanking_region c.*17613 NULL 0.000 - - - no_errors FOXP1 HGNC ENSG00000114861 tier3 744 0 0 1020 3 0.293255131964809 288 1 0.346020761245675 3 71026793 71026793 C G SNP FOXP1 ENST00000318789 human ensembl 70_37 -1 known splice_site c.1428+1 e11+1 1.000 - - - no_errors FOXP1 HGNC ENSG00000114861 tier1 1183 0 0 1331 153 10.3099730458221 506 0 0 3 71026793 71026793 C G SNP FOXP1 ENST00000318789 human ensembl 70_37 -1 known splice_site c.1428+1 e11+1 1.000 - - - no_errors FOXP1 HGNC ENSG00000114861 tier1 1579 0 0 1564 185 10.5774728416238 879 0 0 3 71896457 71896457 G T SNP ENSG00000239250 ENST00000487601 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*19843 NULL 0.001 - - - no_errors Metazoa_SRP RFAM ENSG00000239250 tier4 772 0 0 1134 7 0.613496932515337 444 2 0.440528634361234 3 72652800 72652800 A G SNP ENSG00000199469 ENST00000362599 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*26795 NULL 0.055 - - - no_errors U1 RFAM ENSG00000199469 tier4 668 0 0 945 2 0.211193241816262 401 1 0.248756218905473 3 74359750 74359750 A G SNP CNTN3 ENST00000263665 human ensembl 70_37 -1 known intronic c.1669-7792 e13-7792 0.000 - - - no_errors CNTN3 HGNC ENSG00000113805 tier4 1490 0 0 2009 2 0.099403578528827 610 1 0.163132137030995 3 75747287 75747287 C T SNP MIR4273 ENST00000582824 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40144 NULL 0.313 - - - no_errors MIR4273 HGNC ENSG00000266396 tier4 148 0 0 193 4 2.03045685279188 78 0 0 3 75958457 75958457 G A SNP ROBO2 ENST00000487694 human ensembl 70_37 +1 known intronic c.1+2346 e0+2346 0.000 - - - overly_large_intron ROBO2 HGNC ENSG00000185008 tier3 2417 0 0 1626 1267 43.7802349689012 733 152 17.1751412429379 3 76191821 76191821 T G SNP ROBO2 ENST00000487694 human ensembl 70_37 +1 known intronic c.109+205068 e1+205068 0.189 - - - overly_large_intron ROBO2 HGNC ENSG00000185008 tier4 1653 0 0 2238 5 0.22271714922049 574 0 0 3 76208847 76208847 C A SNP ROBO2 ENST00000487694 human ensembl 70_37 +1 known intronic c.109+222094 e1+222094 0.026 - - - overly_large_intron ROBO2 HGNC ENSG00000185008 tier4 1416 0 0 1813 34 1.83982683982684 463 122 20.8547008547009 3 79241770 79241770 T G SNP ROBO1 ENST00000464233 human ensembl 70_37 -1 known intronic c.89-67081 e2-67081 0.000 - - - no_errors ROBO1 HGNC ENSG00000169855 tier4 1189 0 0 1661 2 0.120192307692308 483 0 0 3 80018026 80018026 T C SNP HMGB1P38 ENST00000490557 human ensembl 70_37 -1 known 5_prime_flanking_region c.-10734 NULL 0.100 - - - no_coding_region:pseudogene HMGB1P38 HGNC ENSG00000243877 tier4 1799 3 0.166389351081531 2420 49 1.98460915350344 604 171 22.0645161290323 3 80159674 80159674 T G SNP - - - - - - - - - - - - - - - - - - tier3 1288 0 0 846 638 42.9919137466307 434 70 13.8888888888889 3 80285411 80285411 T C SNP ENSG00000239699 ENST00000474219 human ensembl 70_37 +1 known 3_prime_flanking_region c.*19027 NULL 0.001 - - - no_coding_region:pseudogene RP11-450I19.2 Clone_based_vega_gene ENSG00000239699 tier3 941 0 0 673 550 44.9346405228758 458 95 17.1790235081374 3 81496750 81496750 T C SNP GBE1 ENST00000429644 human ensembl 70_37 -1 known 3_prime_flanking_region c.*42808 NULL 0.012 - - - no_errors GBE1 HGNC ENSG00000114480 tier3 744 0 0 1073 8 0.740055504162812 350 5 1.40845070422535 3 81934737 81934737 A C SNP ENSG00000242009 ENST00000471614 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.004 - - - no_errors RP11-359D24.1 Clone_based_vega_gene ENSG00000242009 tier4 1214 0 0 1673 2 0.119402985074627 538 0 0 3 82041589 82041589 A G SNP ENSG00000239440 ENST00000470263 human ensembl 70_37 +1 known intronic c.NULL NULL 0.004 - - - no_errors RP11-260O18.1 Clone_based_vega_gene ENSG00000239440 tier4 2023 1 0.0494071146245059 1359 960 41.3971539456662 625 136 17.8712220762155 3 82300867 82300867 G T SNP ENSG00000239440 ENST00000470263 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-260O18.1 Clone_based_vega_gene ENSG00000239440 tier4 705 0 0 889 5 0.558659217877095 361 2 0.550964187327824 3 82730143 82730143 C T SNP - - - - - - - - - - - - - - - - - - tier3 1331 0 0 909 756 45.4054054054054 507 102 16.7487684729064 3 84418840 84418840 C A SNP - - - - - - - - - - - - - - - - - - tier4 1033 0 0 1358 2 0.147058823529412 496 6 1.19047619047619 3 84593289 84593289 A T SNP ENSG00000266652 ENST00000578770 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*47475 NULL 0.231 - - - no_errors AC107025.1 Clone_based_ensembl_gene ENSG00000266652 tier4 2218 0 0 3125 4 0.12779552715655 677 2 0.294550810014728 3 84912027 84912027 C T SNP LOC440970 ENST00000482721 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-735B13.1 Clone_based_vega_gene ENSG00000242641 tier3 1751 0 0 2032 259 11.3051069402008 730 0 0 3 84991276 84991276 A C SNP CADM2 ENST00000407528 human ensembl 70_37 +1 known 5_prime_flanking_region c.-17483 NULL 0.002 - - - no_errors CADM2 HGNC ENSG00000175161 tier3 1097 0 0 1531 3 0.195439739413681 497 0 0 3 85481404 85481404 C T SNP CADM2 ENST00000407528 human ensembl 70_37 +1 known intronic c.62-369793 e2-369793 0.000 - - - no_errors CADM2 HGNC ENSG00000175161 tier3 582 0 0 531 233 30.4973821989529 294 4 1.34228187919463 3 85586900 85586900 C G SNP CADM2 ENST00000407528 human ensembl 70_37 +1 known intronic c.62-264297 e2-264297 0.022 - - - no_errors CADM2 HGNC ENSG00000175161 tier3 1657 0 0 2282 5 0.218531468531469 611 4 0.648298217179903 3 85588165 85588165 A T SNP CADM2 ENST00000407528 human ensembl 70_37 +1 known intronic c.62-263032 e2-263032 0.000 - - - no_errors CADM2 HGNC ENSG00000175161 tier3 1379 0 0 1776 9 0.503919372900336 634 0 0 3 86321418 86321418 A G SNP ENSG00000239767 ENST00000479244 human ensembl 70_37 -1 known 5_prime_flanking_region c.-4907 NULL 0.001 - - - no_errors RP11-789F5.1 Clone_based_vega_gene ENSG00000239767 tier3 1616 1 0.0618429189857761 1976 248 11.1510791366906 710 0 0 3 86403168 86403168 T G SNP ENSG00000222934 ENST00000411002 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-8114 NULL 0.075 - - - no_errors 7SK RFAM ENSG00000222934 tier4 1313 0 0 1736 4 0.229753015508329 548 0 0 3 86539009 86539009 T C SNP ENSG00000241328 ENST00000460586 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-331K15.1 Clone_based_vega_gene ENSG00000241328 tier3 1509 0 0 1082 707 39.5192845164897 557 116 17.2362555720654 3 87224936 87224936 G T SNP - - - - - - - - - - - - - - - - - - tier3 710 0 0 900 2 0.221729490022173 265 1 0.37593984962406 3 89090393 89090393 T C SNP GAPDHP50 ENST00000464421 human ensembl 70_37 -1 known 3_prime_flanking_region c.*6199 NULL 0.015 - - - no_coding_region:pseudogene GAPDHP50 HGNC ENSG00000241861 tier4 1472 0 0 1108 869 43.955488113303 584 109 15.7287157287157 3 90256185 90256185 A G SNP PROSP ENST00000474651 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_coding_region:pseudogene PROSP HGNC ENSG00000189002 tier2 1814 0 0 1120 1134 50.2659574468085 526 113 17.6838810641628 3 90463270 90463270 A G SNP - - - - - - - - - - - - - - - - - - tier4 404 0 0 502 2 0.396825396825397 169 0 0 3 93656753 93656753 A T SNP PROS1 ENST00000394236 human ensembl 70_37 -1 known intronic c.77-10502 e2-10502 0.006 - - - no_errors PROS1 HGNC ENSG00000184500 tier3 1072 0 0 1425 118 7.64744005184705 574 0 0 3 93952771 93952771 T G SNP - - - - - - - - - - - - - - - - - - tier4 2750 0 0 3893 2 0.0512820512820513 488 1 0.204498977505112 3 94974372 94974372 T C SNP - - - - - - - - - - - - - - - - - - tier3 1144 0 0 1496 2 0.133511348464619 460 0 0 3 95235500 95235500 T G SNP - - - - - - - - - - - - - - - - - - tier4 1122 0 0 1354 4 0.294550810014728 489 0 0 3 95472778 95472778 A C SNP - - - - - - - - - - - - - - - - - - tier4 466 0 0 540 2 0.3690036900369 229 0 0 3 95707272 95707272 A G SNP - - - - - - - - - - - - - - - - - - tier3 1078 0 0 765 624 44.9244060475162 355 115 24.468085106383 3 95909112 95909112 G A SNP ENSG00000221477 ENST00000408550 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-23366 NULL 0.004 - - - no_errors AC108739.1 Clone_based_ensembl_gene ENSG00000221477 tier4 1021 2 0.1953125 707 557 43.9968404423381 391 82 17.047817047817 3 95940870 95940870 C T SNP - - - - - - - - - - - - - - - - - - tier3 1439 0 0 1294 585 31.1004784688995 678 1 0.147275405007364 3 96075856 96075856 A G SNP HNRNPKP4 ENST00000485383 human ensembl 70_37 +1 known 3_prime_flanking_region c.*6073 NULL 0.292 - - - no_coding_region:pseudogene HNRNPKP4 HGNC ENSG00000243547 tier4 1107 0 0 738 588 44.2771084337349 495 119 19.349593495935 3 96306299 96306299 A C SNP RPL18AP8 ENST00000486071 human ensembl 70_37 +1 known 5_prime_flanking_region c.-31849 NULL 0.000 - - - no_coding_region:pseudogene RPL18AP8 HGNC ENSG00000218754 tier3 856 0 0 1205 2 0.165700082850041 380 4 1.04166666666667 3 96367654 96367654 C T SNP MTRNR2L2 ENST00000600213 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31537 NULL 0.257 - - - no_errors MTRNR2L2 HGNC ENSG00000269028 tier4 1152 1 0.0867302688638335 1229 185 13.0834512022631 558 2 0.353356890459364 3 96982648 96982648 T G SNP EPHA6 ENST00000389672 human ensembl 70_37 +1 known intronic c.1606+19517 e5+19517 0.000 - - - no_errors EPHA6 HGNC ENSG00000080224 tier3 1801 0 0 2481 6 0.241060666934512 547 0 0 3 97347719 97347719 A G SNP EPHA6 ENST00000389672 human ensembl 70_37 +1 known intronic c.2575-8998 e14-8998 0.263 - - - no_errors EPHA6 HGNC ENSG00000080224 tier3 1230 0 0 1712 2 0.116686114352392 665 0 0 3 98514123 98514123 A C SNP ST3GAL6 ENST00000265261 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*1518 NULL 0.000 - - - no_errors ST3GAL6 HGNC ENSG00000064225 tier3 562 0 0 815 1 0.122399020807834 283 2 0.701754385964912 3 100453312 100453312 C T SNP TFG ENST00000240851 human ensembl 70_37 +1 known intronic c.580+1796 e4+1796 0.008 - - - no_errors TFG HGNC ENSG00000114354 tier3 805 0 0 1040 2 0.191938579654511 426 2 0.465116279069767 3 100562911 100562911 G A SNP ABI3BP ENST00000284322 human ensembl 70_37 -1 known intronic c.1597+2305 e18+2305 0.000 - - - no_errors ABI3BP HGNC ENSG00000154175 tier3 1159 3 0.257289879931389 1038 481 31.6447368421053 610 0 0 3 101385569 101385569 C A SNP ZBTB11 ENST00000312938 human ensembl 70_37 -1 known intronic c.779-917 e4-917 0.002 - - - no_errors ZBTB11 HGNC ENSG00000066422 tier3 845 0 0 1305 2 0.153022188217292 451 3 0.66079295154185 3 102182622 102182622 G A SNP ZPLD1 ENST00000306176 human ensembl 70_37 +1 known intronic c.729-393 e7-393 0.144 - - - no_errors ZPLD1 HGNC ENSG00000170044 tier4 738 3 0.404858299595142 486 475 49.32502596054 305 75 19.7368421052632 3 102308102 102308102 T G SNP - - - - - - - - - - - - - - - - - - tier3 1405 0 0 1975 2 0.101163378856854 626 0 0 3 102572878 102572878 C G SNP - - - - - - - - - - - - - - - - - - tier4 1050 0 0 1197 168 12.3076923076923 586 0 0 3 102650881 102650881 C A SNP - - - - - - - - - - - - - - - - - - tier3 1180 0 0 1597 1 0.0625 566 7 1.2216404886562 3 102733652 102733652 C T SNP - - - - - - - - - - - - - - - - - - tier4 1250 0 0 1139 460 28.75 489 0 0 3 103040464 103040464 A C SNP - - - - - - - - - - - - - - - - - - tier3 1279 0 0 1765 3 0.169683257918552 543 0 0 3 103309610 103309610 C T SNP ENSG00000243195 ENST00000472255 human ensembl 70_37 +1 known 5_prime_flanking_region c.-39895 NULL 0.006 - - - no_coding_region:pseudogene RP11-628J14.2 Clone_based_vega_gene ENSG00000243195 tier4 1587 0 0 1109 816 42.3676012461059 620 113 15.3741496598639 3 103632991 103632991 A C SNP - - - - - - - - - - - - - - - - - - tier3 1729 0 0 2396 4 0.166666666666667 643 0 0 3 105458139 105458139 A C SNP CBLB ENST00000264122 human ensembl 70_37 -1 known intronic c.983+1199 e6+1199 0.000 - - - no_errors CBLB HGNC ENSG00000114423 tier3 1288 0 0 1836 2 0.108695652173913 571 0 0 3 106495966 106495966 G A SNP - - - - - - - - - - - - - - - - - - tier3 1147 0 0 1476 5 0.334448160535117 628 0 0 3 106995009 106995009 A G SNP LOC344595 ENST00000490441 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-446H18.3 Clone_based_vega_gene ENSG00000243701 tier4 1467 0 0 1819 2 0.109769484083425 627 0 0 3 107167980 107167980 T C SNP - - - - - - - - - - - - - - - - - - tier4 933 0 0 710 513 41.9460343417825 369 107 22.3849372384937 3 108672962 108672962 A G SNP GUCA1C ENST00000261047 human ensembl 70_37 -1 known 5_prime_flanking_region c.-353 NULL 0.123 - - - no_errors GUCA1C HGNC ENSG00000138472 tier4 1368 0 0 1842 3 0.162425554953979 532 1 0.186915887850467 3 108732575 108732575 G T SNP MORC1 ENST00000232603 human ensembl 70_37 -1 known intronic c.1705-6637 e18-6637 0.834 - - - no_errors MORC1 HGNC ENSG00000114487 tier4 327 0 0 441 2 0.451467268623025 223 7 3.04347826086957 3 108771480 108771480 A G SNP MORC1 ENST00000232603 human ensembl 70_37 -1 known intronic c.1330+2095 e14+2095 0.000 - - - no_errors MORC1 HGNC ENSG00000114487 tier3 1434 0 0 1833 3 0.163309744148067 590 0 0 3 109137626 109137626 A G SNP ENSG00000228980 ENST00000489670 human ensembl 70_37 +1 known rna NULL NULL 0.085 - - - no_errors RP11-702L6.4 Clone_based_vega_gene ENSG00000228980 tier1 924 1 0.108108108108108 724 568 43.9628482972136 437 40 8.38574423480084 3 110037464 110037464 A C SNP - - - - - - - - - - - - - - - - - - tier3 745 0 0 1012 1 0.0986193293885602 390 2 0.50761421319797 3 110855240 110855240 T G SNP PVRL3 ENST00000493615 human ensembl 70_37 +1 putative intronic c.1001-8506 e6-8506 0.001 - - - no_errors PVRL3 HGNC ENSG00000177707 tier3 1772 0 0 2228 3 0.134468848050202 744 0 0 3 111224881 111224881 T C SNP ENSG00000241177 ENST00000460744 human ensembl 70_37 +1 known intronic c.NULL NULL 0.008 - - - no_errors RP11-615J4.1 Clone_based_vega_gene ENSG00000241177 tier4 1254 0 0 1905 6 0.313971742543171 557 0 0 3 111309579 111309579 T G SNP CD96 ENST00000283285 human ensembl 70_37 +1 known intronic c.855+5354 e6+5354 0.000 - - - no_errors CD96 HGNC ENSG00000153283 tier3 780 0 0 1006 3 0.297324083250743 392 0 0 3 111845060 111845060 T G SNP GCSAM ENST00000308910 human ensembl 70_37 -1 known intronic c.190+774 e4+774 0.000 - - - no_errors GCSAM HGNC ENSG00000174500 tier3 688 0 0 889 3 0.335946248600224 276 0 0 3 112769703 112769703 T A SNP ENSG00000240057 ENST00000460707 human ensembl 70_37 +1 known intronic c.NULL NULL 0.007 - - - no_errors RP11-572M11.4 Clone_based_vega_gene ENSG00000240057 tier4 905 0 0 1192 2 0.167364016736402 338 0 0 3 112769708 112769708 T A SNP ENSG00000240057 ENST00000460707 human ensembl 70_37 +1 known intronic c.NULL NULL 0.005 - - - no_errors RP11-572M11.4 Clone_based_vega_gene ENSG00000240057 tier4 973 0 0 1299 3 0.230414746543779 371 0 0 3 112900360 112900360 A C SNP ENSG00000240057 ENST00000463017 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-572M11.4 Clone_based_vega_gene ENSG00000240057 tier4 322 0 0 398 2 0.5 121 1 0.819672131147541 3 114719578 114719578 T G SNP ZBTB20 ENST00000357258 human ensembl 70_37 -1 known intronic c.1-26315 e1-26315 0.001 - - - no_errors ZBTB20 HGNC ENSG00000181722 tier3 1103 0 0 1261 3 0.237341772151899 577 0 0 3 115050227 115050227 A G SNP ENSG00000242880 ENST00000459855 human ensembl 70_37 +1 known 3_prime_flanking_region c.*46033 NULL 0.008 - - - no_errors RP11-190P13.2 Clone_based_vega_gene ENSG00000242880 tier4 962 0 0 1320 6 0.452488687782805 439 1 0.227272727272727 3 116582214 116582214 G A SNP LSAMP ENST00000539563 human ensembl 70_37 -1 known intronic c.68-418412 e2-418412 0.000 - - - overly_large_intron LSAMP HGNC ENSG00000185565 tier4 1473 1 0.0677506775067751 967 821 45.917225950783 563 129 18.5878962536023 3 117640542 117640542 A C SNP ENSG00000239268 ENST00000484092 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.803 - - - no_errors RP11-384F7.2 Clone_based_vega_gene ENSG00000239268 tier3 587 0 0 749 2 0.265957446808511 368 0 0 3 118064660 118064660 A G SNP ENSG00000243276 ENST00000482142 human ensembl 70_37 -1 known intronic c.NULL NULL 0.013 - - - no_errors RP11-384F7.1 Clone_based_vega_gene ENSG00000243276 tier3 1924 0 0 2610 2 0.0765696784073507 544 2 0.364963503649635 3 119077673 119077673 T G SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known intronic c.101-6490 e2-6490 0.004 - - - no_errors ARHGAP31 HGNC ENSG00000031081 tier4 1578 0 0 2413 2 0.0827814569536424 716 2 0.278551532033426 3 119758354 119758354 A G SNP GSK3B ENST00000316626 human ensembl 70_37 -1 known intronic c.89-37268 e2-37268 0.008 - - - no_errors GSK3B HGNC ENSG00000082701 tier4 1123 0 0 1081 440 28.8903479973736 704 0 0 3 119773607 119773607 A G SNP GSK3B ENST00000316626 human ensembl 70_37 -1 known intronic c.88+38587 e1+38587 0.001 - - - no_errors GSK3B HGNC ENSG00000082701 tier4 811 0 0 792 363 31.401384083045 476 0 0 3 120840095 120840095 G T SNP STXBP5L ENST00000273666 human ensembl 70_37 +1 known intronic c.606-393 e6-393 0.000 - - - no_errors STXBP5L HGNC ENSG00000145087 tier3 1545 4 0.258064516129032 1097 920 45.612295488349 567 112 16.4948453608247 3 120847496 120847496 C A SNP STXBP5L ENST00000273666 human ensembl 70_37 +1 known intronic c.669+6945 e6+6945 0.384 - - - no_errors STXBP5L HGNC ENSG00000145087 tier4 817 0 0 655 480 42.2907488986784 370 57 13.3489461358314 3 121321885 121321885 G A SNP FBXO40 ENST00000338040 human ensembl 70_37 +1 known intronic c.1+9536 e0+9536 0.000 - - - no_errors FBXO40 HGNC ENSG00000163833 tier4 941 1 0.106157112526539 747 706 48.589125946318 444 97 17.9297597042514 3 121869779 121869779 A T SNP CASR ENST00000498619 human ensembl 70_37 +1 known 5_prime_flanking_region c.-103258 NULL 0.003 - - - no_errors CASR HGNC ENSG00000036828 tier4 1335 0 0 1874 16 0.846560846560847 646 0 0 3 124090623 124090623 A C SNP KALRN ENST00000360013 human ensembl 70_37 +1 known intronic c.1765-13069 e11-13069 0.309 - - - no_errors KALRN HGNC ENSG00000160145 tier4 1183 0 0 794 630 44.2415730337079 434 140 24.390243902439 3 125504144 125504144 T C SNP RPS3AP14 ENST00000483907 human ensembl 70_37 +1 known 5_prime_flanking_region c.-9805 NULL 0.191 - - - no_coding_region:pseudogene RPS3AP14 HGNC ENSG00000242229 tier3 1368 0 0 2001 2 0.0998502246630055 758 0 0 3 126778801 126778801 C T SNP PLXNA1 ENST00000393409 human ensembl 70_37 +1 known 3_prime_flanking_region c.*25941 NULL 0.018 - - - no_errors PLXNA1 HGNC ENSG00000114554 tier4 1295 0 0 1483 2 0.134498991257566 539 1 0.185185185185185 3 126825898 126825898 G T SNP - - - - - - - - - - - - - - - - - - tier4 263 0 0 370 3 0.804289544235925 131 6 4.37956204379562 3 127163797 127163797 C A SNP ENSG00000240562 ENST00000479610 human ensembl 70_37 +1 known 5_prime_flanking_region c.-44599 NULL 0.018 - - - no_errors RP11-59J16.2 Clone_based_vega_gene ENSG00000240562 tier3 562 0 0 392 302 43.5158501440922 299 53 15.0568181818182 3 127377839 127377839 T C SNP PODXL2 ENST00000342480 human ensembl 70_37 +1 known intronic c.350-1382 e3-1382 0.044 - - - no_errors PODXL2 HGNC ENSG00000114631 tier4 722 0 0 993 2 0.201005025125628 420 2 0.471698113207547 3 127711685 127711685 G A SNP KBTBD12 ENST00000405109 human ensembl 70_37 +1 known 3_prime_flanking_region c.*8564 NULL 0.002 - - - no_errors KBTBD12 HGNC ENSG00000187715 tier4 1299 2 0.153491941673062 1723 222 11.402157164869 669 0 0 3 127745213 127745213 T C SNP SEC61A1 ENST00000243253 human ensembl 70_37 +1 known 5_prime_flanking_region c.-26183 NULL 0.000 - - - no_errors SEC61A1 HGNC ENSG00000058262 tier4 591 0 0 733 71 8.83084577114428 294 0 0 3 128049240 128049240 A C SNP EEFSEC ENST00000254730 human ensembl 70_37 +1 known intronic c.787-10836 e5-10836 0.000 - - - no_errors EEFSEC HGNC ENSG00000132394 tier4 335 0 0 509 2 0.391389432485323 153 0 0 3 129200219 129200219 T C SNP IFT122 ENST00000296266 human ensembl 70_37 +1 known intronic c.1642-154 e15-154 0.000 - - - no_errors IFT122 HGNC ENSG00000163913 tier3 775 0 0 1089 2 0.183318056828598 392 0 0 3 130909608 130909608 T C SNP NEK11 ENST00000383366 human ensembl 70_37 +1 known intronic c.1399+19877 e12+19877 0.010 - - - no_errors NEK11 HGNC ENSG00000114670 tier3 1816 2 0.10989010989011 1259 975 43.6436884512086 584 173 22.8533685601057 3 131254550 131254550 C T SNP CPNE4 ENST00000502818 human ensembl 70_37 -1 known intronic c.1594-377 e16-377 0.000 - - - no_errors CPNE4 HGNC ENSG00000196353 tier3 1493 0 0 1401 535 27.6200309757357 746 2 0.267379679144385 3 131530440 131530440 A C SNP CPNE4 ENST00000502818 human ensembl 70_37 -1 known intronic c.235-87971 e3-87971 0.001 - - - no_errors CPNE4 HGNC ENSG00000196353 tier3 975 0 0 1411 2 0.141442715700141 370 0 0 3 133966856 133966856 G A SNP RYK ENST00000427044 human ensembl 70_37 -1 known intronic c.1+2411 e0+2411 0.000 - - - no_errors RYK HGNC ENSG00000163785 tier4 939 0 0 1235 20 1.59235668789809 380 110 22.4489795918367 3 136464167 136464167 C A SNP STAG1 ENST00000383202 human ensembl 70_37 -1 known intronic c.1+6870 e0+6870 0.005 - - - no_errors STAG1 HGNC ENSG00000118007 tier3 1320 0 0 1909 2 0.10465724751439 569 0 0 3 137584640 137584640 T G SNP ENSG00000241478 ENST00000485881 human ensembl 70_37 +1 known 5_prime_flanking_region c.-14497 NULL 0.282 - - - no_coding_region:pseudogene RP11-598P12.1 Clone_based_vega_gene ENSG00000241478 tier4 1091 0 0 1488 5 0.334896182183523 415 1 0.240384615384615 3 139704811 139704811 C G SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known intronic c.109+50486 e1+50486 0.000 - - - no_errors CLSTN2 HGNC ENSG00000158258 tier4 423 0 0 531 3 0.561797752808989 210 0 0 3 139824368 139824368 A G SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known intronic c.110-70425 e2-70425 0.000 - - - no_errors CLSTN2 HGNC ENSG00000158258 tier3 702 0 0 427 349 44.9742268041237 277 63 18.5294117647059 3 139941164 139941164 T G SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known intronic c.232+46249 e2+46249 0.022 - - - no_errors CLSTN2 HGNC ENSG00000158258 tier4 506 0 0 643 2 0.310077519379845 306 1 0.325732899022801 3 140125463 140125463 G A SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known intronic c.637+1855 e4+1855 0.000 - - - no_errors CLSTN2 HGNC ENSG00000158258 tier3 1118 0 0 733 683 48.2004234297812 351 62 15.0121065375303 3 141403009 141403009 A C SNP ENSG00000242104 ENST00000474979 human ensembl 70_37 +1 known intronic c.NULL NULL 0.228 - - - no_errors RP11-340E6.1 Clone_based_vega_gene ENSG00000242104 tier4 182 0 0 343 3 0.867052023121387 33 0 0 3 141544611 141544611 A C SNP GRK7 ENST00000264952 human ensembl 70_37 +1 known 3_prime_flanking_region c.*8719 NULL 0.000 - - - no_errors GRK7 HGNC ENSG00000114124 tier3 310 0 0 544 2 0.366300366300366 251 0 0 3 142069320 142069320 T G SNP XRN1 ENST00000264951 human ensembl 70_37 -1 known intronic c.3769-3136 e33-3136 0.009 - - - no_errors XRN1 HGNC ENSG00000114127 tier4 1180 0 0 1704 1 0.0585823081429408 546 16 2.84697508896797 3 142570672 142570672 T G SNP PCOLCE2 ENST00000295992 human ensembl 70_37 -1 known intronic c.193-3358 e3-3358 0.000 - - - no_errors PCOLCE2 HGNC ENSG00000163710 tier3 994 0 0 1398 2 0.142857142857143 440 2 0.451467268623025 3 143314819 143314819 A G SNP SLC9A9 ENST00000316549 human ensembl 70_37 -1 known intronic c.756-17254 e7-17254 0.000 - - - no_errors SLC9A9 HGNC ENSG00000181804 tier3 1049 0 0 1474 2 0.13550135501355 471 0 0 3 143714283 143714283 T G SNP C3orf58 ENST00000493396 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.007 - - - no_errors C3orf58 HGNC ENSG00000181744 tier3 1375 0 0 1991 2 0.100250626566416 518 2 0.384615384615385 3 143724229 143724229 A C SNP C3orf58 ENST00000493396 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.785 - - - no_errors C3orf58 HGNC ENSG00000181744 tier3 997 0 0 1376 2 0.145137880986938 555 0 0 3 144356209 144356209 T A SNP - - - - - - - - - - - - - - - - - - tier3 427 0 0 514 2 0.387596899224806 236 3 1.25523012552301 3 144408394 144408394 G T SNP - - - - - - - - - - - - - - - - - - tier4 1880 1 0.053134962805526 2694 1 0.0371057513914657 826 8 0.956937799043062 3 144966818 144966818 A T SNP - - - - - - - - - - - - - - - - - - tier4 1297 0 0 1605 9 0.557620817843866 567 4 0.700525394045534 3 146025105 146025105 A C SNP ENSG00000243596 ENST00000464158 human ensembl 70_37 -1 known 3_prime_flanking_region c.*35678 NULL 0.002 - - - no_coding_region:pseudogene RP11-758I14.2 Clone_based_vega_gene ENSG00000243596 tier3 1229 0 0 1788 2 0.111731843575419 510 3 0.584795321637427 3 147006003 147006003 T G SNP ENSG00000243620 ENST00000473299 human ensembl 70_37 -1 known intronic c.NULL NULL 0.015 - - - no_errors RP11-649A16.1 Clone_based_vega_gene ENSG00000243620 tier3 1381 0 0 1929 3 0.15527950310559 553 1 0.18018018018018 3 147179743 147179743 C T SNP ZIC1 ENST00000472523 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.001 - - - no_errors ZIC1 HGNC ENSG00000152977 tier3 1498 0 0 1058 799 43.0263866451265 506 82 13.8983050847458 3 151342666 151342666 A G SNP ENSG00000241151 ENST00000492731 human ensembl 70_37 +1 known 5_prime_flanking_region c.-12296 NULL 0.000 - - - no_errors RP11-454C18.1 Clone_based_vega_gene ENSG00000241151 tier4 1068 0 0 1394 4 0.285918513223731 393 3 0.757575757575758 3 151367266 151367266 T C SNP ENSG00000241151 ENST00000492731 human ensembl 70_37 +1 known intronic c.NULL NULL 0.005 - - - no_errors RP11-454C18.1 Clone_based_vega_gene ENSG00000241151 tier4 520 0 0 761 2 0.261780104712042 267 1 0.373134328358209 3 153855600 153855600 C A SNP ARHGEF26 ENST00000356448 human ensembl 70_37 +1 known intronic c.1269+8092 e3+8092 0.016 - - - no_errors ARHGEF26 HGNC ENSG00000114790 tier4 2669 9 0.326323422770123 4227 13 0.296871431833752 657 18 2.54237288135593 3 153999140 153999140 T G SNP DHX36 ENST00000496811 human ensembl 70_37 -1 known intronic c.2377-489 e21-489 0.001 - - - no_errors DHX36 HGNC ENSG00000174953 tier3 1088 0 0 1581 2 0.126342387871131 423 2 0.470588235294118 3 154843657 154843657 A C SNP MME ENST00000360490 human ensembl 70_37 +1 known intronic c.720+7057 e7+7057 0.000 - - - no_errors MME HGNC ENSG00000196549 tier3 1242 0 0 1688 2 0.118343195266272 480 0 0 3 155696725 155696725 G A SNP ENSG00000174930 ENST00000449668 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40710 NULL 0.001 - - - no_coding_region:pseudogene AC067721.2 Clone_based_vega_gene ENSG00000174930 tier4 1846 0 0 1376 1068 43.6988543371522 699 126 15.0537634408602 3 155776539 155776539 T G SNP KCNAB1 ENST00000477912 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors KCNAB1 HGNC ENSG00000169282 tier3 1184 0 0 1650 3 0.181378476420798 517 4 0.766283524904215 3 158188101 158188101 G T SNP RSRC1 ENST00000295930 human ensembl 70_37 +1 known intronic c.652+9309 e6+9309 0.001 - - - no_errors RSRC1 HGNC ENSG00000174891 tier3 964 0 0 1369 6 0.436363636363636 448 2 0.440528634361234 3 158897646 158897646 A C SNP IQCJ-SCHIP1 ENST00000485419 human ensembl 70_37 +1 known intronic c.10-65986 e2-65986 0.004 - - - no_errors IQCJ-SCHIP1 HGNC ENSG00000250588 tier4 628 0 0 876 2 0.227790432801822 256 0 0 3 159048566 159048566 T C SNP IQCJ-SCHIP1 ENST00000485419 human ensembl 70_37 +1 known intronic c.291+68094 e4+68094 0.064 - - - no_errors IQCJ-SCHIP1 HGNC ENSG00000250588 tier3 963 0 0 1303 2 0.153256704980843 469 1 0.211864406779661 3 159493097 159493097 T G SNP IQCJ-SCHIP1 ENST00000485419 human ensembl 70_37 +1 known intronic c.987+10170 e5+10170 0.000 - - - no_errors IQCJ-SCHIP1 HGNC ENSG00000250588 tier3 989 0 0 1418 2 0.140745953553835 471 1 0.211864406779661 3 159609549 159609549 T G SNP IQCJ-SCHIP1 ENST00000485419 human ensembl 70_37 +1 known intronic c.1547-337 e10-337 0.000 - - - no_errors IQCJ-SCHIP1 HGNC ENSG00000250588 tier3 567 0 0 849 2 0.234741784037559 294 1 0.338983050847458 3 161472558 161472558 C A SNP - - - - - - - - - - - - - - - - - - tier3 1607 0 0 2155 2 0.0927213722763097 672 4 0.586510263929619 3 161614171 161614171 A C SNP - - - - - - - - - - - - - - - - - - tier4 515 0 0 684 3 0.436681222707424 254 1 0.392156862745098 3 162028666 162028666 T C SNP - - - - - - - - - - - - - - - - - - tier4 612 0 0 688 2 0.289855072463768 328 2 0.606060606060606 3 162453957 162453957 G A SNP - - - - - - - - - - - - - - - - - - tier4 1645 0 0 1032 791 43.3900164563906 671 128 15.9402241594022 3 165289031 165289031 C A SNP ENSG00000244128 ENST00000470138 human ensembl 70_37 +1 known intronic c.NULL NULL 0.306 - - - no_errors RP11-85M11.2 Clone_based_vega_gene ENSG00000244128 tier4 1103 0 0 1465 3 0.204359673024523 447 0 0 3 166360169 166360169 G A SNP PSAT1P4 ENST00000454471 human ensembl 70_37 +1 known 5_prime_flanking_region c.-48807 NULL 0.000 - - - no_coding_region:pseudogene PSAT1P4 HGNC ENSG00000224962 tier3 1672 2 0.119260584376863 1166 1137 49.3489583333333 511 165 24.2647058823529 3 167243783 167243783 C T SNP WDR49 ENST00000308378 human ensembl 70_37 -1 known intronic c.1548+1825 e10+1825 0.941 - - - no_errors WDR49 HGNC ENSG00000174776 tier3 602 1 0.165562913907285 539 259 32.4155193992491 368 0 0 3 167708687 167708687 T C SNP ENSG00000242036 ENST00000471495 human ensembl 70_37 -1 known 5_prime_flanking_region c.-34283 NULL 0.000 - - - no_coding_region:pseudogene RP11-603B13.1 Clone_based_vega_gene ENSG00000242036 tier4 835 0 0 676 503 42.6632739609839 391 69 15 3 169803689 169803689 A G SNP ENSG00000268220 ENST00000599781 human ensembl 70_37 +1 known 5_prime_flanking_region c.-2359 NULL 0.000 - - - no_errors AC008040.1 Clone_based_ensembl_gene ENSG00000268220 tier3 831 0 0 1389 3 0.21551724137931 375 3 0.793650793650794 3 169812469 169812469 C A SNP PHC3 ENST00000484068 human ensembl 70_37 -1 known intronic c.485+2491 e3+2491 0.001 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PHC3 HGNC ENSG00000173889 tier3 671 0 0 938 1 0.106269925611052 333 6 1.75953079178886 3 170167924 170167924 C G SNP CLDN11 ENST00000451576 human ensembl 70_37 +1 known intronic c.391+26809 e2+26809 0.032 - - - no_errors CLDN11 HGNC ENSG00000013297 tier4 941 0 0 1241 3 0.241157556270096 520 1 0.191938579654511 3 170502831 170502831 G A SNP CLDN11 ENST00000486975 human ensembl 70_37 +1 putative intronic c.498-74941 e4-74941 0.011 - - - no_errors CLDN11 HGNC ENSG00000013297 tier4 1721 0 0 1217 1058 46.4850615114235 596 142 19.1891891891892 3 170861648 170861648 A G SNP TNIK ENST00000436636 human ensembl 70_37 -1 known intronic c.1222-3350 e13-3350 0.004 - - - no_errors TNIK HGNC ENSG00000154310 tier3 901 0 0 1142 2 0.174672489082969 377 3 0.78740157480315 3 171338504 171338504 G T SNP PLD1 ENST00000351298 human ensembl 70_37 -1 known intronic c.2594-194 e23-194 0.019 - - - no_errors PLD1 HGNC ENSG00000075651 tier3 423 0 0 607 3 0.490998363338789 225 5 2.17391304347826 3 173835006 173835006 A C SNP NLGN1 ENST00000401917 human ensembl 70_37 +1 known intronic c.767-158099 e5-158099 0.135 - - - no_errors NLGN1 HGNC ENSG00000169760 tier3 687 0 0 819 6 0.726392251815981 296 0 0 3 174317965 174317965 G A SNP NAALADL2 ENST00000489729 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors NAALADL2 HGNC ENSG00000177694 tier3 1269 1 0.0786782061369001 805 784 49.3392070484582 476 131 21.5815485996705 3 177605238 177605238 A C SNP ENSG00000231574 ENST00000434309 human ensembl 70_37 +1 known intronic c.NULL NULL 0.006 - - - no_errors RP11-91K9.1 Clone_based_vega_gene ENSG00000231574 tier3 458 0 0 640 3 0.46583850931677 236 0 0 3 179114529 179114529 G T SNP ENSG00000269728 ENST00000595265 human ensembl 70_37 -1 known rna NULL NULL 0.912 - - - no_errors RP11-145M9.4 Clone_based_vega_gene ENSG00000269728 tier1 694 0 0 1198 2 0.166666666666667 281 0 0 3 180604740 180604740 G C SNP FXR1 ENST00000469882 human ensembl 70_37 +1 putative intronic c.1+18657 e0+18657 0.003 - - - no_stop_codon:bad_bp_length_for_coding_region FXR1 HGNC ENSG00000114416 tier4 779 0 0 644 511 44.2424242424242 378 85 18.2012847965739 3 181044962 181044962 G T SNP SOX2-OT ENST00000460739 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors SOX2-OT HGNC ENSG00000242808 tier3 1630 0 0 1995 2 0.1001001001001 726 2 0.274725274725275 3 181298956 181298956 T C SNP SOX2-OT ENST00000460739 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors SOX2-OT HGNC ENSG00000242808 tier3 969 0 0 1370 3 0.21849963583394 417 2 0.477326968973747 3 182329608 182329608 G C SNP ENSG00000238837 ENST00000492416 human ensembl 70_37 +1 known 5_prime_flanking_region c.-32394 NULL 0.437 - - - no_errors RP11-646E18.2 Clone_based_vega_gene ENSG00000238837 tier3 1049 1 0.0949667616334283 1391 23 1.62544169611307 441 104 19.0825688073395 3 183910255 183910255 T C SNP ABCF3 ENST00000429586 human ensembl 70_37 +1 known intronic c.1570-134 e17-134 0.159 - - - no_errors ABCF3 HGNC ENSG00000161204 tier4 874 0 0 1463 3 0.204638472032742 458 2 0.434782608695652 3 185865598 185865598 A C SNP DGKG ENST00000265022 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*2281 NULL 0.012 - - - no_errors DGKG HGNC ENSG00000058866 tier3 1016 0 0 1583 2 0.126182965299685 439 1 0.227272727272727 3 185906296 185906296 A C SNP DGKG ENST00000265022 human ensembl 70_37 -1 known intronic c.1918-128 e21-128 0.000 - - - no_errors DGKG HGNC ENSG00000058866 tier3 380 0 0 554 4 0.716845878136201 243 0 0 3 188817999 188817999 T G SNP TPRG1 ENST00000412373 human ensembl 70_37 +1 known splice_region c.1+6 e0+6 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region TPRG1 HGNC ENSG00000188001 tier3 530 0 0 754 2 0.264550264550265 272 1 0.366300366300366 3 189342797 189342797 T C SNP TP63 ENST00000264731 human ensembl 70_37 +1 known 5_prime_flanking_region c.-6508 NULL 0.000 - - - no_errors TP63 HGNC ENSG00000073282 tier4 1868 0 0 2613 2 0.0764818355640535 740 0 0 3 189620669 189620669 T C SNP TP63 ENST00000264731 human ensembl 70_37 +1 known 3_prime_flanking_region c.*8378 NULL 0.000 - - - no_errors TP63 HGNC ENSG00000073282 tier3 1418 0 0 1070 845 44.1253263707572 572 143 20 3 190031356 190031356 A G SNP CLDN1 ENST00000295522 human ensembl 70_37 -1 known intronic c.224-531 e2-531 0.010 - - - no_errors CLDN1 HGNC ENSG00000163347 tier2 821 0 0 1140 1 0.0876424189307625 384 5 1.2853470437018 3 191049573 191049573 C T SNP CCDC50 ENST00000392456 human ensembl 70_37 +1 known intronic c.49+2061 e1+2061 0.002 - - - no_errors CCDC50 HGNC ENSG00000152492 tier3 1442 0 0 998 869 46.5452597750402 473 67 12.4074074074074 3 191147634 191147634 C A SNP PYDC2 ENST00000518817 human ensembl 70_37 +1 known 5_prime_flanking_region c.-31318 NULL 0.001 - - - no_errors PYDC2 HGNC ENSG00000253548 tier4 1150 2 0.173460537727667 1645 1 0.0607533414337789 531 14 2.56880733944954 3 191679976 191679976 G A SNP ENSG00000216020 ENST00000401201 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-13767 NULL 0.000 - - - no_errors AC026320.1 Clone_based_ensembl_gene ENSG00000216020 tier3 1457 1 0.0685871056241427 951 758 44.327485380117 633 155 19.6700507614213 3 191860800 191860800 T C SNP FGF12 ENST00000454309 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*998 NULL 0.099 - - - no_errors FGF12 HGNC ENSG00000114279 tier3 430 0 0 628 1 0.158982511923688 217 3 1.36363636363636 3 192010503 192010503 C T SNP FGF12 ENST00000454309 human ensembl 70_37 -1 known intronic c.414+42647 e3+42647 0.001 - - - no_errors FGF12 HGNC ENSG00000114279 tier3 1178 0 0 904 692 43.331246086412 475 99 17.2473867595819 3 192867001 192867001 G A SNP ENSG00000232130 ENST00000414895 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.000 - - - no_errors RP11-143P4.2 Clone_based_vega_gene ENSG00000232130 tier3 712 0 0 454 453 49.8898678414097 278 86 23.6263736263736 3 196532397 196532397 C T SNP PAK2 ENST00000327134 human ensembl 70_37 +1 known intronic c.468+143 e4+143 0.016 - - - no_errors PAK2 HGNC ENSG00000180370 tier3 1333 1 0.0748502994011976 1913 67 3.38383838383838 671 0 0 3 196572770 196572770 G A SNP SENP5 ENST00000323460 human ensembl 70_37 +1 known 5_prime_flanking_region c.-39283 NULL 0.000 - - - no_errors SENP5 HGNC ENSG00000119231 tier4 1509 1 0.0660938532716457 1293 1083 45.5042016806723 557 125 18.2748538011696 3 197117982 197117982 C A SNP - - - - - - - - - - - - - - - - - - tier3 792 3 0.377358490566038 1079 6 0.551977920883165 404 12 2.8436018957346 3 197256727 197256727 G T SNP BDH1 ENST00000495285 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-197256727 NULL 0.640 - - - no_coding_region BDH1 HGNC ENSG00000161267 tier3 866 0 0 1201 4 0.33167495854063 396 3 0.744416873449132 3 197762880 197762880 T C SNP LMLN ENST00000330198 human ensembl 70_37 +1 known silent c.1833 p.P611 0.998 NULL pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 tier1 503 0 0 738 3 0.404858299595142 281 0 0 4 56258 56258 A C SNP ZNF595 ENST00000526473 human ensembl 70_37 +1 known intronic c.3+2873 e1+2873 0.047 - - - no_errors ZNF595 HGNC ENSG00000197701 tier4 1642 0 0 2636 2 0.0757862826828344 910 0 0 4 312053 312053 T G SNP ZNF732 ENST00000419098 human ensembl 70_37 -1 known 5_prime_flanking_region c.-12954 NULL 0.177 - - - no_errors ZNF732 HGNC ENSG00000186777 tier3 719 0 0 983 3 0.304259634888438 351 3 0.847457627118644 4 348858 348858 G T SNP ZNF141 ENST00000240499 human ensembl 70_37 +1 known intronic c.226+10639 e3+10639 0.024 - - - no_errors ZNF141 HGNC ENSG00000131127 tier4 1125 0 0 1594 2 0.12531328320802 601 4 0.658978583196046 4 2103219 2103219 T G SNP POLN ENST00000382865 human ensembl 70_37 -1 known intronic c.1983-5559 e18-5559 0.040 - - - no_errors POLN HGNC ENSG00000130997 tier4 430 0 0 609 2 0.326797385620915 259 0 0 4 2422847 2422847 C A SNP ENSG00000206113 ENST00000382849 human ensembl 70_37 +1 known intronic c.NULL NULL 0.003 - - - no_errors RP11-503N18.1 Clone_based_vega_gene ENSG00000206113 tier3 485 0 0 797 3 0.375 293 4 1.34680134680135 4 2568061 2568061 A C SNP RNF4 ENST00000508235 human ensembl 70_37 +1 known intronic c.299-29750 e4-29750 0.038 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RNF4 HGNC ENSG00000063978 tier4 557 0 0 992 2 0.201207243460765 407 0 0 4 3650904 3650904 G T SNP ENSG00000250681 ENST00000505702 human ensembl 70_37 +1 known 3_prime_flanking_region c.*15202 NULL 0.001 - - - no_errors RP3-368B9.2 Clone_based_vega_gene ENSG00000250681 tier3 524 0 0 357 304 45.9909228441755 226 49 17.6895306859206 4 4239607 4239607 T A SNP TMEM128 ENST00000382753 human ensembl 70_37 -1 known missense c.454 p.T152S 0.998 NULL NULL - no_errors TMEM128 HGNC ENSG00000132406 tier1 1957 0 0 2989 2 0.0668672684720829 870 1 0.114810562571757 4 5266627 5266627 A T SNP STK32B ENST00000282908 human ensembl 70_37 +1 known intronic c.261-66320 e4-66320 0.000 - - - no_errors STK32B HGNC ENSG00000152953 tier4 1136 0 0 1297 2 0.153846153846154 584 1 0.170357751277683 4 6213200 6213200 A T SNP LOC285484 ENST00000508601 human ensembl 70_37 +1 known intronic c.NULL NULL 0.078 - - - no_errors RP11-586D19.1 Clone_based_vega_gene ENSG00000249896 tier4 1695 0 0 1955 222 10.1928374655647 687 0 0 4 7341433 7341433 C T SNP SORCS2 ENST00000507866 human ensembl 70_37 +1 known intronic c.481-56582 e2-56582 0.000 - - - no_errors SORCS2 HGNC ENSG00000184985 tier4 726 0 0 500 404 44.6902654867257 316 77 19.3954659949622 4 7343874 7343874 C T SNP SORCS2 ENST00000507866 human ensembl 70_37 +1 known intronic c.481-54141 e2-54141 0.001 - - - no_errors SORCS2 HGNC ENSG00000184985 tier3 680 0 0 413 358 46.3730569948187 255 74 22.3564954682779 4 8332143 8332143 C T SNP ACOX3 ENST00000356406 human ensembl 70_37 -1 known 3_prime_flanking_region c.*36545 NULL 0.000 - - - no_errors ACOX3 HGNC ENSG00000087008 tier3 500 0 0 371 258 41.0174880763116 175 32 15.4589371980676 4 11154995 11154995 G T SNP - - - - - - - - - - - - - - - - - - tier3 651 0 0 865 3 0.345224395857307 330 5 1.49253731343284 4 11792500 11792500 T G SNP ENSG00000249631 ENST00000510095 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-281P23.2 Clone_based_vega_gene ENSG00000249631 tier3 1055 0 0 1389 1 0.0719424460431655 396 5 1.24688279301746 4 11908367 11908367 A G SNP ENSG00000248262 ENST00000514103 human ensembl 70_37 +1 known 5_prime_flanking_region c.-7924 NULL 0.000 - - - no_errors RP11-1J7.1 Clone_based_vega_gene ENSG00000248262 tier3 1612 0 0 2209 5 0.22583559168925 655 1 0.152439024390244 4 11949138 11949138 T C SNP ENSG00000248262 ENST00000514103 human ensembl 70_37 +1 known 3_prime_flanking_region c.*27826 NULL 0.000 - - - no_errors RP11-1J7.1 Clone_based_vega_gene ENSG00000248262 tier4 845 0 0 1118 4 0.35650623885918 392 4 1 4 11951829 11951829 G T SNP ENSG00000248262 ENST00000514103 human ensembl 70_37 +1 known 3_prime_flanking_region c.*30517 NULL 0.001 - - - no_errors RP11-1J7.1 Clone_based_vega_gene ENSG00000248262 tier3 1812 1 0.0550964187327824 2451 4 0.162866449511401 702 8 1.12044817927171 4 12014192 12014192 C A SNP ENSG00000266669 ENST00000582396 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*779 NULL 0.004 - - - no_errors AC097452.1 Clone_based_ensembl_gene ENSG00000266669 tier3 1023 0 0 1291 4 0.308641975308642 493 4 0.795228628230616 4 12513983 12513983 C T SNP - - - - - - - - - - - - - - - - - - tier4 1031 0 0 1265 2 0.157728706624606 420 0 0 4 12571227 12571227 C A SNP - - - - - - - - - - - - - - - - - - tier4 935 0 0 1233 1 0.0810372771474878 356 5 1.38504155124654 4 12710282 12710282 A C SNP - - - - - - - - - - - - - - - - - - tier4 728 0 0 1013 6 0.588812561334642 322 1 0.309597523219814 4 13191632 13191632 A C SNP - - - - - - - - - - - - - - - - - - tier3 861 0 0 1149 2 0.173460537727667 410 4 0.966183574879227 4 13360253 13360253 C T SNP RAB28 ENST00000330852 human ensembl 70_37 -1 known 3_prime_flanking_region c.*9929 NULL 1.000 - - - no_errors RAB28 HGNC ENSG00000157869 tier3 842 0 0 1191 2 0.16750418760469 393 0 0 4 14269817 14269817 T G SNP ENSG00000249988 ENST00000505628 human ensembl 70_37 +1 known 3_prime_flanking_region c.*25381 NULL 0.003 - - - no_errors RP11-669M16.1 Clone_based_vega_gene ENSG00000249988 tier2 828 0 0 1029 1 0.0970873786407767 397 5 1.24378109452736 4 14490599 14490599 G A SNP LINC00504 ENST00000505089 human ensembl 70_37 -1 known intronic c.NULL NULL 0.018 - - - no_errors LINC00504 HGNC ENSG00000248360 tier4 688 0 0 938 2 0.212314225053079 418 0 0 4 15202849 15202849 A G SNP ENSG00000249252 ENST00000502344 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-665G4.1 Clone_based_vega_gene ENSG00000249252 tier3 955 0 0 1419 2 0.140745953553835 347 1 0.28735632183908 4 15478069 15478069 C A SNP CC2D2A ENST00000413206 human ensembl 70_37 +1 known intronic c.39+474 e1+474 0.153 - - - no_errors CC2D2A HGNC ENSG00000048342 tier4 932 0 0 1278 4 0.31201248049922 424 5 1.16550116550117 4 16982751 16982751 G C SNP ENSG00000249998 ENST00000511735 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.011 - - - no_errors RP11-141E13.1 Clone_based_vega_gene ENSG00000249998 tier4 664 0 0 943 3 0.316122233930453 351 0 0 4 18255634 18255634 T G SNP - - - - - - - - - - - - - - - - - - tier4 1896 0 0 2744 2 0.0728332119446468 840 1 0.118906064209275 4 18888277 18888277 C A SNP - - - - - - - - - - - - - - - - - - tier4 1323 0 0 1780 2 0.112233445566779 481 2 0.41407867494824 4 20843467 20843467 T C SNP KCNIP4 ENST00000382150 human ensembl 70_37 -1 known intronic c.225+8699 e2+8699 0.008 - - - no_errors KCNIP4 HGNC ENSG00000185774 tier3 1341 0 0 1806 2 0.110619469026549 541 1 0.18450184501845 4 20871626 20871626 C G SNP KCNIP4 ENST00000382150 human ensembl 70_37 -1 known intronic c.101-19336 e2-19336 0.000 - - - no_errors KCNIP4 HGNC ENSG00000185774 tier4 2014 0 0 2690 3 0.111358574610245 682 2 0.291545189504373 4 20877376 20877376 A G SNP KCNIP4 ENST00000382150 human ensembl 70_37 -1 known intronic c.101-25086 e2-25086 0.401 - - - no_errors KCNIP4 HGNC ENSG00000185774 tier3 739 1 0.135135135135135 513 429 45.5414012738854 343 74 17.7458033573141 4 21086343 21086343 T C SNP KCNIP4 ENST00000382150 human ensembl 70_37 -1 known intronic c.100+219087 e1+219087 0.000 - - - no_errors KCNIP4 HGNC ENSG00000185774 tier3 724 0 0 893 2 0.223214285714286 323 1 0.308641975308642 4 21642250 21642250 C G SNP KCNIP4 ENST00000382148 human ensembl 70_37 -1 known intronic c.88+56723 e1+56723 0.000 - - - no_errors KCNIP4 HGNC ENSG00000185774 tier4 1011 0 0 735 557 43.0448222565688 415 73 14.867617107943 4 21757485 21757485 A C SNP KCNIP4 ENST00000512102 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors KCNIP4 HGNC ENSG00000185774 tier3 1669 0 0 2264 1 0.0441501103752759 835 12 1.41676505312869 4 22071151 22071151 A G SNP ENSG00000250039 ENST00000510705 human ensembl 70_37 +1 known intronic c.NULL NULL 0.017 - - - no_errors RP11-17E2.2 Clone_based_vega_gene ENSG00000250039 tier4 1854 0 0 2411 2 0.0828843762950684 697 0 0 4 22213965 22213965 T G SNP ENSG00000250039 ENST00000510705 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-17E2.2 Clone_based_vega_gene ENSG00000250039 tier3 872 0 0 1123 2 0.177777777777778 414 1 0.240963855421687 4 23260757 23260757 C A SNP ENSG00000249547 ENST00000512563 human ensembl 70_37 -1 known intronic c.NULL NULL 0.004 - - - no_errors RP11-453O5.1 Clone_based_vega_gene ENSG00000249547 tier4 891 0 0 1156 5 0.430663221360896 403 4 0.982800982800983 4 23661258 23661258 C A SNP ENSG00000250137 ENST00000514290 human ensembl 70_37 +1 known intronic c.NULL NULL 0.626 - - - no_errors RP11-380P13.1 Clone_based_vega_gene ENSG00000250137 tier3 668 0 0 842 2 0.23696682464455 334 1 0.298507462686567 4 23916413 23916413 T C SNP PPARGC1A ENST00000264867 human ensembl 70_37 -1 known 5_prime_flanking_region c.-24833 NULL 0.000 - - - no_errors PPARGC1A HGNC ENSG00000109819 tier3 985 0 0 1222 2 0.163398692810458 340 0 0 4 23979889 23979889 A G SNP - - - - - - - - - - - - - - - - - - tier3 1295 0 0 1746 5 0.285551113649343 556 1 0.178890876565295 4 24245623 24245623 T G SNP - - - - - - - - - - - - - - - - - - tier3 1186 0 0 1673 1 0.0597371565113501 492 3 0.603621730382294 4 25002274 25002274 C A SNP LGI2 ENST00000382114 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*2799 NULL 0.000 - - - no_errors LGI2 HGNC ENSG00000153012 tier3 692 0 0 501 407 44.7744774477448 277 73 20.8571428571429 4 25396253 25396253 A G SNP ANAPC4 ENST00000510092 human ensembl 70_37 +1 known intronic c.942-40 e12-40 0.003 - - - no_errors ANAPC4 HGNC ENSG00000053900 tier3 1239 1 0.0806451612903226 876 720 45.0563204005006 498 110 18.0921052631579 4 25822184 25822184 A G SNP SEL1L3 ENST00000399878 human ensembl 70_37 -1 known intronic c.1291-622 e8-622 0.104 - - - no_errors SEL1L3 HGNC ENSG00000091490 tier4 916 0 0 1452 4 0.274725274725275 470 0 0 4 26234871 26234871 A G SNP RBPJ ENST00000512351 human ensembl 70_37 +1 known intronic c.1+69635 e0+69635 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region RBPJ HGNC ENSG00000168214 tier3 1348 0 0 2142 2 0.0932835820895522 622 60 8.7719298245614 4 26753575 26753575 T G SNP TBC1D19 ENST00000264866 human ensembl 70_37 +1 known intronic c.1436-1867 e20-1867 0.003 - - - no_errors TBC1D19 HGNC ENSG00000109680 tier3 785 0 0 1140 7 0.610287707061901 305 55 15.2777777777778 4 26947490 26947490 C A SNP STIM2 ENST00000382009 human ensembl 70_37 +1 known intronic c.544-11744 e3-11744 0.680 - - - no_errors STIM2 HGNC ENSG00000109689 tier4 861 0 0 1274 4 0.312989045383412 457 5 1.08225108225108 4 28266446 28266446 C T SNP - - - - - - - - - - - - - - - - - - tier3 1407 2 0.14194464158978 1215 496 28.9719626168224 703 0 0 4 28431132 28431132 G T SNP ENSG00000250064 ENST00000509416 human ensembl 70_37 +1 known 5_prime_flanking_region c.-5939 NULL 0.538 - - - no_errors RP11-123O22.1 Clone_based_vega_gene ENSG00000250064 tier4 1205 0 0 774 599 43.6270939548434 401 94 18.989898989899 4 28551256 28551256 G C SNP ENSG00000250064 ENST00000509416 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-123O22.1 Clone_based_vega_gene ENSG00000250064 tier3 1453 0 0 1945 2 0.102616726526424 654 4 0.604229607250755 4 30204642 30204642 G A SNP - - - - - - - - - - - - - - - - - - tier4 1130 0 0 782 511 39.4594594594595 424 56 11.6666666666667 4 31799405 31799405 T G SNP - - - - - - - - - - - - - - - - - - tier4 1276 0 0 1523 2 0.131147540983607 539 1 0.184842883548983 4 31983983 31983983 G A SNP ENSG00000251129 ENST00000513211 human ensembl 70_37 +1 known 5_prime_flanking_region c.-15036 NULL 0.000 - - - no_errors RP11-734I18.1 Clone_based_vega_gene ENSG00000251129 tier4 1134 0 0 731 550 42.9352068696331 477 105 18.0412371134021 4 32172761 32172761 A C SNP ENSG00000251129 ENST00000513211 human ensembl 70_37 +1 known 3_prime_flanking_region c.*15733 NULL 0.002 - - - no_errors RP11-734I18.1 Clone_based_vega_gene ENSG00000251129 tier3 1579 0 0 2124 3 0.140977443609023 822 0 0 4 32643789 32643789 G A SNP - - - - - - - - - - - - - - - - - - tier3 1490 0 0 1973 23 1.15172759138708 772 2 0.255102040816327 4 34124254 34124254 C T SNP ENSG00000248685 ENST00000513843 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-548L20.1 Clone_based_vega_gene ENSG00000248685 tier3 1019 0 0 675 635 48.3993902439024 400 67 14.2553191489362 4 35730699 35730699 A C SNP - - - - - - - - - - - - - - - - - - tier3 1242 0 0 1799 2 0.111049416990561 632 0 0 4 37919550 37919550 C A SNP TBC1D1 ENST00000261439 human ensembl 70_37 +1 known intronic c.417+15417 e1+15417 0.000 - - - no_errors TBC1D1 HGNC ENSG00000065882 tier3 1026 0 0 1526 2 0.130890052356021 618 0 0 4 38291088 38291088 A C SNP ENSG00000251642 ENST00000506010 human ensembl 70_37 +1 known 3_prime_flanking_region c.*1976 NULL 0.000 - - - no_errors RP11-600L4.1 Clone_based_vega_gene ENSG00000251642 tier4 437 0 0 676 2 0.294985250737463 244 2 0.813008130081301 4 38344617 38344617 A C SNP ENSG00000248227 ENST00000503465 human ensembl 70_37 +1 known 5_prime_flanking_region c.-23918 NULL 0.020 - - - no_errors RP11-83C7.1 Clone_based_vega_gene ENSG00000248227 tier4 832 0 0 1126 2 0.177304964539007 412 0 0 4 38533195 38533195 A C SNP ENSG00000251635 ENST00000512170 human ensembl 70_37 +1 known 5_prime_flanking_region c.-32429 NULL 0.000 - - - no_errors RP11-213G21.2 Clone_based_vega_gene ENSG00000251635 tier3 874 0 0 1221 2 0.163532297628782 361 0 0 4 38822562 38822562 T C SNP TLR1 ENST00000506146 human ensembl 70_37 -1 known intronic c.1-15748 e1-15748 0.014 - - - no_stop_codon:bad_bp_length_for_coding_region TLR1 HGNC ENSG00000174125 tier3 279 0 0 427 3 0.697674418604651 162 1 0.613496932515337 4 39724298 39724298 G A SNP UBE2K ENST00000261427 human ensembl 70_37 +1 known intronic c.64-14742 e2-14742 0.098 - - - no_errors UBE2K HGNC ENSG00000078140 tier4 762 0 0 627 550 46.6893039049236 431 79 15.4901960784314 4 41925192 41925192 C T SNP TMEM33 ENST00000325094 human ensembl 70_37 +1 known 5_prime_flanking_region c.-12310 NULL 0.004 - - - no_errors TMEM33 HGNC ENSG00000109133 tier4 826 0 0 492 434 46.8176914778857 376 82 17.9039301310044 4 43495604 43495604 G A SNP ENSG00000248143 ENST00000508563 human ensembl 70_37 -1 known 5_prime_flanking_region c.-1044 NULL 0.011 - - - no_errors RP11-324J13.2 Clone_based_vega_gene ENSG00000248143 tier4 2480 2 0.0805152979066023 1773 1680 48.6392588303416 609 171 21.8112244897959 4 43849001 43849001 T C SNP ENSG00000239679 ENST00000491708 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-16290 NULL 0.019 - - - no_errors Metazoa_SRP RFAM ENSG00000239679 tier4 453 0 0 668 3 0.447093889716841 307 0 0 4 44655879 44655879 C T SNP YIPF7 ENST00000508947 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors YIPF7 HGNC ENSG00000177752 tier3 1893 0 0 2190 257 10.5026563138537 849 4 0.466744457409568 4 44849362 44849362 G A SNP ENSG00000249729 ENST00000512950 human ensembl 70_37 -1 known 5_prime_flanking_region c.-5943 NULL 0.007 - - - no_coding_region:pseudogene RP11-55C6.1 Clone_based_vega_gene ENSG00000249729 tier3 1086 0 0 622 639 50.6339144215531 440 110 20 4 45597974 45597974 G T SNP - - - - - - - - - - - - - - - - - - tier4 751 3 0.397877984084881 515 383 42.6028921023359 358 65 15.3664302600473 4 46383891 46383891 T G SNP GABRA2 ENST00000540012 human ensembl 70_37 -1 known intronic c.90+4200 e1+4200 0.000 - - - no_errors GABRA2 HGNC ENSG00000151834 tier3 1562 0 0 2074 4 0.192492781520693 538 3 0.55452865064695 4 47159171 47159171 C T SNP GABRB1 ENST00000295454 human ensembl 70_37 +1 known intronic c.241-4095 e4-4095 0.632 - - - no_errors GABRB1 HGNC ENSG00000163288 tier2 1438 0 0 1054 827 43.94261424017 529 106 16.6929133858268 4 47507766 47507766 G A SNP ATP10D ENST00000273859 human ensembl 70_37 +1 known intronic c.1-6755 e1-6755 0.000 - - - no_errors ATP10D HGNC ENSG00000145246 tier4 2059 0 0 2975 3 0.100603621730382 642 2 0.309597523219814 4 48016750 48016750 T G SNP CNGA1 ENST00000514170 human ensembl 70_37 -1 known intronic c.1+1750 e0+1750 0.000 - - - no_errors CNGA1 HGNC ENSG00000198515 tier4 924 0 0 719 661 47.8985507246377 395 101 20.3629032258065 4 48118924 48118924 G C SNP TXK ENST00000264316 human ensembl 70_37 -1 known intronic c.17-2505 e2-2505 0.000 - - - no_errors TXK HGNC ENSG00000074966 tier4 973 0 0 739 684 48.0674631061138 338 106 23.8738738738739 4 48721636 48721636 T C SNP FRYL ENST00000358350 human ensembl 70_37 -1 known intronic c.1-8921 e1-8921 0.966 - - - no_errors FRYL HGNC ENSG00000075539 tier4 629 0 0 912 3 0.327868852459016 296 3 1.00334448160535 4 48781171 48781171 A C SNP FRYL ENST00000358350 human ensembl 70_37 -1 known intronic c.1+924 e0+924 0.000 - - - no_errors FRYL HGNC ENSG00000075539 tier2 702 0 0 1064 1 0.0938967136150235 401 7 1.7156862745098 4 49094996 49094996 C A SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known 3_prime_flanking_region c.*31089 NULL 0.000 - - - no_errors CWH43 HGNC ENSG00000109182 tier4 1834 0 0 2367 2 0.0844238075137189 880 1 0.113507377979569 4 49095002 49095002 C G SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known 3_prime_flanking_region c.*31095 NULL 0.000 - - - no_errors CWH43 HGNC ENSG00000109182 tier4 1917 0 0 2471 2 0.0808734330772341 875 0 0 4 49100463 49100463 T C SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known 3_prime_flanking_region c.*36556 NULL 0.000 - - - no_errors CWH43 HGNC ENSG00000109182 tier4 516 0 0 697 2 0.284900284900285 266 0 0 4 49104680 49104680 T A SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known 3_prime_flanking_region c.*40773 NULL 0.000 - - - no_errors CWH43 HGNC ENSG00000109182 tier4 117 0 0 181 2 1.08695652173913 90 0 0 4 49106061 49106061 T A SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known 3_prime_flanking_region c.*42154 NULL 0.000 - - - no_errors CWH43 HGNC ENSG00000109182 tier4 983 0 0 1313 3 0.227963525835866 477 2 0.415800415800416 4 49106259 49106259 A T SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known 3_prime_flanking_region c.*42352 NULL 0.000 - - - no_errors CWH43 HGNC ENSG00000109182 tier3 1175 0 0 1627 2 0.122624156958921 497 0 0 4 49106261 49106261 T C SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known 3_prime_flanking_region c.*42354 NULL 0.000 - - - no_errors CWH43 HGNC ENSG00000109182 tier3 1171 0 0 1620 5 0.30750307503075 499 0 0 4 49107899 49107899 C T SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known 3_prime_flanking_region c.*43992 NULL 0.000 - - - no_errors CWH43 HGNC ENSG00000109182 tier3 390 0 0 529 3 0.56390977443609 155 2 1.27388535031847 4 49120801 49120801 T C SNP - - - - - - - - - - - - - - - - - - tier4 93 0 0 166 2 1.17647058823529 30 0 0 4 49128807 49128807 T C SNP - - - - - - - - - - - - - - - - - - tier3 566 0 0 845 2 0.236127508854782 252 2 0.78740157480315 4 49128820 49128820 T C SNP - - - - - - - - - - - - - - - - - - tier4 508 0 0 803 3 0.372208436724566 232 2 0.854700854700855 4 49142902 49142902 T G SNP - - - - - - - - - - - - - - - - - - tier4 268 0 0 422 2 0.466200466200466 147 0 0 4 49144369 49144369 C G SNP - - - - - - - - - - - - - - - - - - tier4 319 0 0 425 3 0.696055684454756 196 2 1.01010101010101 4 49155393 49155393 T C SNP ENSG00000221415 ENST00000408488 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-44831 NULL 0.000 - - - no_errors AC118282.1 Clone_based_ensembl_gene ENSG00000221415 tier4 1774 0 0 2257 4 0.176912870411322 1045 0 0 4 49155475 49155475 C A SNP ENSG00000221415 ENST00000408488 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-44749 NULL 0.000 - - - no_errors AC118282.1 Clone_based_ensembl_gene ENSG00000221415 tier4 993 0 0 1243 3 0.239808153477218 582 4 0.68259385665529 4 49156050 49156050 T A SNP ENSG00000221415 ENST00000408488 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-44174 NULL 0.000 - - - no_errors AC118282.1 Clone_based_ensembl_gene ENSG00000221415 tier4 1158 0 0 1678 3 0.178465199286139 1619 0 0 4 49156732 49156732 C G SNP ENSG00000221415 ENST00000408488 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-43492 NULL 0.000 - - - no_errors AC118282.1 Clone_based_ensembl_gene ENSG00000221415 tier4 66 0 0 112 2 1.72413793103448 42 2 4.54545454545455 4 49215259 49215259 T G SNP ENSG00000249079 ENST00000508739 human ensembl 70_37 -1 known 5_prime_flanking_region c.-618 NULL 0.034 - - - no_coding_region:pseudogene RP11-1281K21.3 Clone_based_vega_gene ENSG00000249079 tier3 248 0 0 304 2 0.65359477124183 142 0 0 4 49239139 49239139 T G SNP ENSG00000237961 ENST00000428211 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-49239139 NULL 0.009 - - - no_coding_region:pseudogene RP11-1281K21.1 Clone_based_vega_gene ENSG00000237961 tier3 789 0 0 1072 2 0.186219739292365 588 0 0 4 49257400 49257400 T G SNP ENSG00000237961 ENST00000428211 human ensembl 70_37 -1 known 5_prime_flanking_region c.-11013 NULL 0.167 - - - no_coding_region:pseudogene RP11-1281K21.1 Clone_based_vega_gene ENSG00000237961 tier4 3476 0 0 4554 3 0.0658039043649923 2204 1 0.0453103760761214 4 49289625 49289625 G C SNP ENSG00000237961 ENST00000428211 human ensembl 70_37 -1 known 5_prime_flanking_region c.-43238 NULL 0.004 - - - no_coding_region:pseudogene RP11-1281K21.1 Clone_based_vega_gene ENSG00000237961 tier3 1079 0 0 1490 2 0.133868808567604 739 2 0.26525198938992 4 49645051 49645051 C G SNP ENSG00000221075 ENST00000408148 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-47342 NULL 0.000 - - - no_errors AC119751.1 Clone_based_ensembl_gene ENSG00000221075 tier4 2802 0 0 4117 3 0.0727978645959719 2586 2 0.0770416024653313 4 49650516 49650516 G A SNP ENSG00000221082 ENST00000408155 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-49802 NULL 0.000 - - - no_errors AC119751.2 Clone_based_ensembl_gene ENSG00000221082 tier4 159 0 0 189 4 2.04081632653061 116 4 3.27868852459016 4 49656761 49656761 G T SNP - - - - - - - - - - - - - - - - - - tier4 136 0 0 205 2 0.956937799043062 42 0 0 4 56319052 56319052 T G SNP CLOCK ENST00000309964 human ensembl 70_37 -1 known intronic c.1206+169 e12+169 0.003 - - - no_errors CLOCK HGNC ENSG00000134852 tier3 646 0 0 927 2 0.215285252960172 365 2 0.544959128065395 4 58637878 58637878 C G SNP ENSG00000249831 ENST00000508135 human ensembl 70_37 +1 known 3_prime_flanking_region c.*47057 NULL 0.000 - - - no_errors RP11-4O3.2 Clone_based_vega_gene ENSG00000249831 tier3 1164 1 0.0856898029134533 804 699 46.4760638297872 413 92 18.2178217821782 4 60737881 60737881 C T SNP ENSG00000201676 ENST00000364806 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*38887 NULL 0.000 - - - no_errors Y_RNA RFAM ENSG00000201676 tier3 2070 0 0 1413 1167 45.2325581395349 676 176 20.6572769953052 4 60998267 60998267 C T SNP - - - - - - - - - - - - - - - - - - tier3 1330 0 0 911 647 41.5009621552277 490 126 20.3225806451613 4 61374693 61374693 C A SNP - - - - - - - - - - - - - - - - - - tier4 420 1 0.237529691211401 528 4 0.75187969924812 234 10 4.0983606557377 4 62080895 62080895 G T SNP LPHN3 ENST00000514591 human ensembl 70_37 +1 known intronic c.1+12946 e0+12946 0.000 - - - no_errors LPHN3 HGNC ENSG00000150471 tier3 862 0 0 1163 2 0.171673819742489 424 5 1.16550116550117 4 62319221 62319221 A T SNP LPHN3 ENST00000514591 human ensembl 70_37 +1 known intronic c.1-43618 e1-43618 0.005 - - - no_errors LPHN3 HGNC ENSG00000150471 tier3 1007 0 0 1327 6 0.450112528132033 454 1 0.21978021978022 4 62474895 62474895 C T SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known intronic c.473+21737 e3+21737 0.107 - - - no_errors LPHN3 HGNC ENSG00000150471 tier3 1181 0 0 1591 3 0.188087774294671 458 0 0 4 62570452 62570452 T C SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known intronic c.584-25888 e5-25888 0.005 - - - no_errors LPHN3 HGNC ENSG00000150471 tier4 809 0 0 1066 5 0.466853408029879 386 2 0.515463917525773 4 62769061 62769061 C T SNP LPHN3 ENST00000507625 human ensembl 70_37 +1 known intronic c.1888-6217 e10-6217 0.000 - - - no_errors LPHN3 HGNC ENSG00000150471 tier4 781 2 0.255427841634738 523 441 45.746887966805 383 69 15.2654867256637 4 63123768 63123768 T G SNP ENSG00000250249 ENST00000509121 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33512 NULL 0.000 - - - no_coding_region:pseudogene RP11-30P21.2 Clone_based_vega_gene ENSG00000250249 tier4 442 0 0 507 1 0.196850393700787 212 2 0.934579439252336 4 63159040 63159040 G C SNP ENSG00000241344 ENST00000483696 human ensembl 70_37 +1 known 3_prime_flanking_region c.*44552 NULL 0.001 - - - no_coding_region:pseudogene RP11-30P21.1 Clone_based_vega_gene ENSG00000241344 tier3 605 0 0 385 363 48.5294117647059 262 79 23.0320699708455 4 63352249 63352249 A T SNP HMGN1P11 ENST00000508668 human ensembl 70_37 +1 known 5_prime_flanking_region c.-23938 NULL 0.608 - - - no_coding_region:pseudogene HMGN1P11 HGNC ENSG00000248336 tier3 618 0 0 883 3 0.338600451467269 406 0 0 4 63663189 63663189 G A SNP EXOC5P1 ENST00000510543 human ensembl 70_37 +1 known 5_prime_flanking_region c.-19355 NULL 0.004 - - - no_coding_region:pseudogene EXOC5P1 HGNC ENSG00000180673 tier4 1330 1 0.0749625187406297 1170 513 30.4812834224599 646 0 0 4 63875113 63875113 C T SNP - - - - - - - - - - - - - - - - - - tier4 970 0 0 1324 3 0.226073850791258 516 2 0.385356454720617 4 64335192 64335192 G T SNP ENSG00000250775 ENST00000508825 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-12K22.1 Clone_based_vega_gene ENSG00000250775 tier3 1469 0 0 1868 30 1.57977883096366 502 114 18.4764991896272 4 65373732 65373732 T A SNP - - - - - - - - - - - - - - - - - - tier3 453 0 0 539 3 0.552486187845304 232 0 0 4 66332371 66332371 T A SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known intronic c.1402+23724 e5+23724 0.000 - - - no_errors EPHA5 HGNC ENSG00000145242 tier4 1883 1 0.0530785562632696 1254 1075 46.1571489909833 678 149 17.9518072289157 4 66510797 66510797 A C SNP EPHA5 ENST00000273854 human ensembl 70_37 -1 known intronic c.182-1652 e2-1652 0.000 - - - no_errors EPHA5 HGNC ENSG00000145242 tier3 893 0 0 1183 3 0.252951096121417 387 0 0 4 67055452 67055452 A T SNP ENSG00000249413 ENST00000508572 human ensembl 70_37 +1 known 3_prime_flanking_region c.*39722 NULL 0.000 - - - no_errors RP11-25H12.1 Clone_based_vega_gene ENSG00000249413 tier3 1228 0 0 867 710 44.9651678277391 425 111 20.7089552238806 4 67318378 67318378 G A SNP ENSG00000244099 ENST00000470993 human ensembl 70_37 +1 known 3_prime_flanking_region c.*21139 NULL 0.010 - - - no_coding_region:pseudogene RP11-793B9.1 Clone_based_vega_gene ENSG00000244099 tier4 1713 0 0 1262 981 43.716577540107 488 119 19.6046128500824 4 67571704 67571704 C A SNP - - - - - - - - - - - - - - - - - - tier3 816 0 0 1070 2 0.186393289841566 305 1 0.326797385620915 4 67586056 67586056 C T SNP - - - - - - - - - - - - - - - - - - tier4 1057 0 0 706 604 46.1068702290076 393 75 15.9574468085106 4 67599087 67599087 C A SNP - - - - - - - - - - - - - - - - - - tier3 1234 0 0 1769 3 0.169204737732657 511 6 1.1605415860735 4 69680233 69680233 A G SNP ENSG00000251236 ENST00000507455 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*69680233 NULL 0.000 - - - no_coding_region:pseudogene RP11-468N14.1 Clone_based_vega_gene ENSG00000251236 tier3 2039 0 0 1364 1067 43.8373048479869 656 183 21.8116805721097 4 70416828 70416828 C A SNP UGT2B4 ENST00000381096 human ensembl 70_37 -1 known 5_prime_flanking_region c.-25381 NULL 0.094 - - - no_errors UGT2B4 HGNC ENSG00000156096 tier4 1871 2 0.106723585912487 1325 1082 44.9335548172757 631 133 17.4083769633508 4 71661104 71661104 G T SNP RUFY3 ENST00000507333 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors RUFY3 HGNC ENSG00000018189 tier3 1481 0 0 2397 5 0.208159866777685 826 6 0.721153846153846 4 72398042 72398042 T C SNP SLC4A4 ENST00000425175 human ensembl 70_37 +1 known intronic c.2280+150 e16+150 0.001 - - - no_errors SLC4A4 HGNC ENSG00000080493 tier3 1179 0 0 1439 20 1.37080191912269 411 98 19.2534381139489 4 72434004 72434004 C T SNP SLC4A4 ENST00000425175 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*394 NULL 0.347 - - - no_errors SLC4A4 HGNC ENSG00000080493 tier3 981 0 0 1294 2 0.15420200462606 376 1 0.26525198938992 4 73306072 73306072 T C SNP ADAMTS3 ENST00000286657 human ensembl 70_37 -1 known intronic c.505-25384 e4-25384 0.000 - - - no_errors ADAMTS3 HGNC ENSG00000156140 tier3 973 0 0 1432 3 0.209059233449477 441 2 0.449438202247191 4 73377839 73377839 T G SNP ADAMTS3 ENST00000286657 human ensembl 70_37 -1 known intronic c.504+36356 e3+36356 0.028 - - - no_errors ADAMTS3 HGNC ENSG00000156140 tier4 1246 0 0 1643 3 0.182038834951456 451 1 0.221238938053097 4 73765309 73765309 T G SNP - - - - - - - - - - - - - - - - - - tier4 1289 0 0 1756 3 0.170551449687322 586 0 0 4 74106309 74106309 T C SNP ANKRD17 ENST00000358602 human ensembl 70_37 -1 known intronic c.393+17684 e1+17684 0.004 - - - no_errors ANKRD17 HGNC ENSG00000132466 tier4 806 0 0 1204 2 0.165837479270315 370 0 0 4 76009974 76009974 G A SNP ENSG00000248165 ENST00000513770 human ensembl 70_37 -1 known 5_prime_flanking_region c.-49940 NULL 0.031 - - - no_errors RP11-44F21.2 Clone_based_vega_gene ENSG00000248165 tier3 1747 0 0 1196 824 40.7920792079208 615 139 18.4350132625995 4 76903065 76903065 T A SNP SDAD1 ENST00000356260 human ensembl 70_37 -1 known intronic c.195+21 e2+21 0.060 - - - no_errors SDAD1 HGNC ENSG00000198301 tier3 1367 0 0 1125 976 46.4319695528069 537 117 17.8899082568807 4 76903066 76903066 T A SNP SDAD1 ENST00000356260 human ensembl 70_37 -1 known intronic c.195+20 e2+20 0.046 - - - no_errors SDAD1 HGNC ENSG00000198301 tier3 1351 0 0 1123 978 46.5492622560685 531 113 17.5465838509317 4 77625152 77625152 G C SNP SHROOM3 ENST00000296043 human ensembl 70_37 +1 known intronic c.324-6157 e3-6157 0.004 - - - no_errors SHROOM3 HGNC ENSG00000138771 tier3 876 0 0 1250 2 0.159744408945687 438 4 0.900900900900901 4 77679685 77679685 G T SNP SHROOM3 ENST00000296043 human ensembl 70_37 +1 known intronic c.5199-1013 e9-1013 0.000 - - - no_errors SHROOM3 HGNC ENSG00000138771 tier3 825 0 0 1120 4 0.355555555555556 443 0 0 4 78472651 78472651 C T SNP CXCL13 ENST00000286758 human ensembl 70_37 +1 known intronic c.1+39709 e0+39709 0.213 - - - no_errors CXCL13 HGNC ENSG00000156234 tier4 545 0 0 552 251 31.2577833125778 287 0 0 4 78929740 78929740 G T SNP ENSG00000249072 ENST00000510231 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-78929740 NULL 0.000 - - - no_coding_region:pseudogene RP11-777B9.5 Clone_based_vega_gene ENSG00000249072 tier3 477 0 0 714 2 0.279329608938547 319 5 1.54320987654321 4 79589661 79589661 A C SNP LOC100505702 ENST00000503539 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-792D21.2 Clone_based_vega_gene ENSG00000251442 tier3 496 0 0 792 2 0.251889168765743 269 1 0.37037037037037 4 80717893 80717893 C G SNP GDEP ENST00000504263 human ensembl 70_37 +1 known 5_prime_flanking_region c.-30732 NULL 0.000 - - - no_errors GDEP Clone_based_vega_gene ENSG00000251321 tier3 1202 0 0 858 630 42.3387096774194 482 109 18.3193277310924 4 80780824 80780824 T C SNP GDEP ENST00000504263 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors GDEP Clone_based_vega_gene ENSG00000251321 tier3 757 0 0 1070 2 0.186567164179104 332 2 0.595238095238095 4 81034832 81034832 A G SNP ANTXR2 ENST00000506286 human ensembl 70_37 -1 known intronic c.NULL NULL 0.004 - - - no_errors ANTXR2 HGNC ENSG00000163297 tier4 722 0 0 1090 2 0.183150183150183 315 1 0.316455696202532 4 81347672 81347672 C G SNP C4orf22 ENST00000508675 human ensembl 70_37 +1 known intronic c.242+63634 e2+63634 0.000 - - - no_errors C4orf22 HGNC ENSG00000197826 tier3 803 0 0 545 528 49.1162790697674 361 81 18.2844243792325 4 83093196 83093196 G A SNP ENSG00000202485 ENST00000365615 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-2504 NULL 0.066 - - - no_errors U6 RFAM ENSG00000202485 tier4 389 0 0 553 2 0.359066427289048 249 4 1.58102766798419 4 84209293 84209293 G T SNP COQ2 ENST00000311469 human ensembl 70_37 -1 known 5_prime_flanking_region c.-3226 NULL 0.051 - - - no_errors COQ2 HGNC ENSG00000173085 tier4 1640 2 0.121728545343883 1401 1328 48.6625137412972 468 137 22.6446280991736 4 85197391 85197391 T C SNP ENSG00000250546 ENST00000508406 human ensembl 70_37 -1 known intronic c.NULL NULL 0.998 - - - no_errors RP11-8L2.1 Clone_based_vega_gene ENSG00000250546 tier2 606 0 0 785 2 0.254129606099111 285 1 0.344827586206897 4 85533554 85533554 T G SNP CDS1 ENST00000295887 human ensembl 70_37 +1 known intronic c.342+2876 e3+2876 0.000 - - - no_errors CDS1 HGNC ENSG00000163624 tier3 1377 0 0 2067 3 0.144927536231884 562 0 0 4 85884598 85884598 T A SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known intronic c.1+2764 e0+2764 0.000 - - - no_errors WDFY3 HGNC ENSG00000163625 tier4 2497 0 0 3823 5 0.129971406290616 749 0 0 4 86221445 86221445 G T SNP - - - - - - - - - - - - - - - - - - tier3 776 2 0.25706940874036 561 420 42.8134556574924 316 52 14.1304347826087 4 86555373 86555373 C A SNP ARHGAP24 ENST00000395184 human ensembl 70_37 +1 known intronic c.180+63499 e1+63499 0.791 - - - no_errors ARHGAP24 HGNC ENSG00000138639 tier3 1112 0 0 1001 470 31.9510537049626 548 4 0.72463768115942 4 86746570 86746570 C A SNP ARHGAP24 ENST00000395184 human ensembl 70_37 +1 known intronic c.269-98231 e3-98231 0.000 - - - no_errors ARHGAP24 HGNC ENSG00000138639 tier3 1459 0 0 1884 2 0.106044538706257 672 2 0.29585798816568 4 86901335 86901335 G T SNP ARHGAP24 ENST00000395184 human ensembl 70_37 +1 known intronic c.928+2491 e7+2491 0.080 - - - no_errors ARHGAP24 HGNC ENSG00000138639 tier4 807 0 0 1025 3 0.291545189504373 417 7 1.65094339622642 4 88749860 88749860 A C SNP MEPE ENST00000424957 human ensembl 70_37 +1 known intronic c.1-5995 e1-5995 0.001 - - - no_errors MEPE HGNC ENSG00000152595 tier3 837 0 0 1197 2 0.166666666666667 490 0 0 4 88801724 88801724 A C SNP HSP90AB3P ENST00000505987 human ensembl 70_37 +1 known 5_prime_flanking_region c.-11271 NULL 0.995 - - - no_coding_region:pseudogene HSP90AB3P HGNC ENSG00000183199 tier4 892 0 0 1210 4 0.328947368421053 411 1 0.242718446601942 4 92017249 92017249 G T SNP FAM190A ENST00000333691 human ensembl 70_37 +1 known intronic c.2217+10104 e9+10104 0.115 - - - no_errors FAM190A HGNC ENSG00000184305 tier4 618 0 0 478 244 33.7950138504155 387 4 1.0230179028133 4 94202817 94202817 G A SNP GRID2 ENST00000282020 human ensembl 70_37 +1 known intronic c.1245+43176 e8+43176 0.000 - - - no_errors GRID2 HGNC ENSG00000152208 tier3 1946 2 0.102616726526424 1724 757 30.450522928399 901 2 0.220507166482911 4 94266173 94266173 T G SNP GRID2 ENST00000282020 human ensembl 70_37 +1 known intronic c.1246-50585 e9-50585 0.791 - - - no_errors GRID2 HGNC ENSG00000152208 tier4 2089 0 0 2782 8 0.28673835125448 734 2 0.271739130434783 4 94282215 94282215 C T SNP GRID2 ENST00000282020 human ensembl 70_37 +1 known intronic c.1246-34543 e9-34543 0.002 - - - no_errors GRID2 HGNC ENSG00000152208 tier3 1056 0 0 1420 2 0.140646976090014 551 0 0 4 94962990 94962990 T G SNP - - - - - - - - - - - - - - - - - - tier4 421 0 0 583 2 0.341296928327645 263 1 0.374531835205993 4 97171899 97171899 C T SNP ENSG00000250655 ENST00000515870 human ensembl 70_37 +1 known 3_prime_flanking_region c.*37648 NULL 0.112 - - - no_coding_region:pseudogene RP11-61G24.1 Clone_based_vega_gene ENSG00000250655 tier4 607 0 0 805 3 0.371287128712871 307 3 0.967741935483871 4 97469285 97469285 G A SNP ENSG00000248510 ENST00000522173 human ensembl 70_37 +1 known intronic c.NULL NULL 0.405 - - - no_errors RP11-145G20.1 Clone_based_vega_gene ENSG00000248510 tier4 2501 0 0 3622 2 0.0551571980143409 717 0 0 4 98338559 98338559 G A SNP STPG2 ENST00000506482 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors STPG2 HGNC ENSG00000163116 tier3 1635 0 0 2062 2 0.0968523002421308 717 0 0 4 98411370 98411370 A C SNP STPG2 ENST00000506482 human ensembl 70_37 -1 known intronic c.NULL NULL 0.002 - - - no_errors STPG2 HGNC ENSG00000163116 tier4 1574 0 0 2034 2 0.0981836033382425 684 0 0 4 99033287 99033287 A G SNP STPG2 ENST00000295268 human ensembl 70_37 -1 known intronic c.388-2831 e4-2831 0.018 - - - no_errors STPG2 HGNC ENSG00000163116 tier4 656 0 0 463 421 47.6244343891403 330 62 15.8163265306122 4 101251535 101251535 A C SNP - - - - - - - - - - - - - - - - - - tier4 914 0 0 1242 2 0.160771704180064 376 2 0.529100529100529 4 101381122 101381122 T A SNP EMCN ENST00000296420 human ensembl 70_37 -1 known intronic c.376+5458 e4+5458 0.043 - - - no_errors EMCN HGNC ENSG00000164035 tier4 1521 0 0 1067 999 48.3309143686502 506 140 21.671826625387 4 103556890 103556890 T G SNP MANBA ENST00000226578 human ensembl 70_37 -1 known intronic c.2157+132 e15+132 0.000 - - - no_errors MANBA HGNC ENSG00000109323 tier4 1362 0 0 2006 3 0.149253731343284 482 1 0.20703933747412 4 104010399 104010399 A G SNP BDH2 ENST00000296424 human ensembl 70_37 -1 known intronic c.357+1935 e4+1935 0.000 - - - no_errors BDH2 HGNC ENSG00000164039 tier4 839 0 0 1225 2 0.162999185004075 439 3 0.678733031674208 4 104169706 104169706 C G SNP ENSG00000248740 ENST00000513793 human ensembl 70_37 +1 known 5_prime_flanking_region c.-7610 NULL 0.000 - - - no_errors RP11-328K4.1 Clone_based_vega_gene ENSG00000248740 tier4 958 0 0 682 538 44.0622440622441 438 76 14.7286821705426 4 104426855 104426855 A C SNP ENSG00000251577 ENST00000502936 human ensembl 70_37 +1 known 5_prime_flanking_region c.-43047 NULL 0.001 - - - no_errors RP11-297P16.3 Clone_based_vega_gene ENSG00000251577 tier4 349 0 0 505 2 0.394477317554241 168 0 0 4 104883073 104883073 G T SNP ENSG00000249614 ENST00000510505 human ensembl 70_37 +1 known intronic c.NULL NULL 0.061 - - - no_errors RP11-703G6.1 Clone_based_vega_gene ENSG00000249614 tier4 1214 3 0.246305418719212 1607 11 0.679431747992588 531 13 2.38970588235294 4 108465222 108465222 C A SNP PAPSS1 ENST00000514815 human ensembl 70_37 -1 known 3_prime_flanking_region c.*46211 NULL 0.000 - - - no_errors PAPSS1 HGNC ENSG00000138801 tier3 667 0 0 944 6 0.630914826498423 341 0 0 4 108713690 108713690 G T SNP SGMS2 ENST00000394684 human ensembl 70_37 +1 known 5_prime_flanking_region c.-103020 NULL 0.000 - - - no_errors SGMS2 HGNC ENSG00000164023 tier3 1023 1 0.0975609756097561 782 591 43.0444282592862 505 90 15.1260504201681 4 109636966 109636966 T G SNP AGXT2L1 ENST00000296486 human ensembl 70_37 -1 known 3_prime_flanking_region c.*26674 NULL 0.000 - - - no_errors AGXT2L1 HGNC ENSG00000164089 tier3 1571 0 0 2306 2 0.086617583369424 622 1 0.160513643659711 4 109777188 109777188 G T SNP COL25A1 ENST00000399132 human ensembl 70_37 -1 known intronic c.1321-3107 e24-3107 0.000 - - - no_errors COL25A1 HGNC ENSG00000188517 tier3 1228 0 0 1799 2 0.110864745011086 671 4 0.592592592592593 4 110787253 110787253 G A SNP LRIT3 ENST00000594814 human ensembl 70_37 +1 known intronic c.590-1544 e3-1544 0.012 - - - no_errors LRIT3 HGNC ENSG00000183423 tier3 1016 0 0 1518 5 0.328299409061064 500 0 0 4 111068436 111068436 A T SNP ELOVL6 ENST00000394607 human ensembl 70_37 -1 known intronic c.90-41652 e2-41652 0.346 - - - no_errors ELOVL6 HGNC ENSG00000170522 tier4 494 0 0 669 4 0.592592592592593 316 2 0.628930817610063 4 112984006 112984006 C G SNP ENSG00000249815 ENST00000511219 human ensembl 70_37 -1 known intronic c.NULL NULL 0.008 - - - no_errors RP11-269F21.3 Clone_based_vega_gene ENSG00000249815 tier4 842 0 0 1266 2 0.1573564122738 502 1 0.198807157057654 4 113788278 113788278 C T SNP ANK2 ENST00000506722 human ensembl 70_37 +1 known intronic c.1-37333 e1-37333 0.001 - - - no_errors ANK2 HGNC ENSG00000145362 tier4 985 0 0 1348 3 0.22189349112426 494 0 0 4 115296328 115296328 G T SNP - - - - - - - - - - - - - - - - - - tier4 875 0 0 1090 2 0.182982616651418 472 0 0 4 115733512 115733512 C G SNP NDST4 ENST00000264363 human ensembl 70_37 -1 known 3_prime_flanking_region c.*15460 NULL 0.000 - - - no_errors NDST4 HGNC ENSG00000138653 tier3 986 0 0 1328 2 0.15015015015015 467 3 0.635593220338983 4 117260361 117260361 C T SNP ENSG00000248173 ENST00000508414 human ensembl 70_37 -1 known 5_prime_flanking_region c.-42045 NULL 0.127 - - - no_errors RP11-659O3.1 Clone_based_vega_gene ENSG00000248173 tier4 1112 0 0 1484 2 0.134589502018843 626 0 0 4 117809893 117809893 G C SNP ENSG00000201752 ENST00000364882 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*49352 NULL 0.024 - - - no_errors U6 RFAM ENSG00000201752 tier3 850 1 0.117233294255569 536 563 51.1353315168029 300 96 24 4 118879278 118879278 A C SNP - - - - - - - - - - - - - - - - - - tier4 1751 0 0 2285 2 0.0874508089199825 710 0 0 4 119257916 119257916 C T SNP PRSS12 ENST00000296498 human ensembl 70_37 -1 known intronic c.642-1110 e3-1110 0.000 - - - no_errors PRSS12 HGNC ENSG00000164099 tier3 1470 1 0.0679347826086957 1164 970 45.4332552693208 585 108 15.4949784791966 4 119681590 119681590 A T SNP SEC24D ENST00000505134 human ensembl 70_37 -1 known rna NULL NULL 0.025 - - - no_errors SEC24D HGNC ENSG00000150961 tier1 1689 0 0 2580 3 0.11605415860735 640 0 0 4 122038886 122038886 T G SNP NDNF ENST00000379692 human ensembl 70_37 -1 known 5_prime_flanking_region c.-71894 NULL 0.001 - - - no_errors NDNF HGNC ENSG00000173376 tier4 272 0 0 358 4 1.10497237569061 49 2 3.92156862745098 4 122045076 122045076 T C SNP TNIP3 ENST00000057513 human ensembl 70_37 -1 known 3_prime_flanking_region c.*8710 NULL 0.051 - - - no_errors TNIP3 HGNC ENSG00000050730 tier3 1201 0 0 1666 2 0.119904076738609 530 2 0.37593984962406 4 124593278 124593278 A G SNP LOC285419 ENST00000508111 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-93L9.1 Clone_based_vega_gene ENSG00000249464 tier3 1028 0 0 1535 4 0.25974025974026 319 2 0.623052959501558 4 124815958 124815958 G C SNP LOC285419 ENST00000508111 human ensembl 70_37 +1 known intronic c.NULL NULL 0.006 - - - no_errors RP11-93L9.1 Clone_based_vega_gene ENSG00000249464 tier4 1282 0 0 1796 2 0.111111111111111 357 0 0 4 125655503 125655503 G A SNP ANKRD50 ENST00000504087 human ensembl 70_37 -1 known 5_prime_flanking_region c.-23837 NULL 0.005 - - - no_errors ANKRD50 HGNC ENSG00000151458 tier3 1349 0 0 962 725 42.9502369668246 438 84 16.030534351145 4 125695027 125695027 C T SNP - - - - - - - - - - - - - - - - - - tier4 1116 0 0 1240 57 4.39475713184271 667 0 0 4 127651807 127651807 T A SNP ENSG00000249178 ENST00000515428 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-123G5.1 Clone_based_vega_gene ENSG00000249178 tier3 728 0 0 919 2 0.217155266015201 500 0 0 4 129678343 129678343 G C SNP ENSG00000238802 ENST00000459599 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*1059 NULL 0.000 - - - no_errors snoU13 RFAM ENSG00000238802 tier4 1290 0 0 1985 1 0.0502765208647562 382 3 0.767263427109974 4 130166754 130166754 A G SNP - - - - - - - - - - - - - - - - - - tier2 1456 0 0 2110 4 0.189214758751183 599 1 0.166666666666667 4 130479285 130479285 A C SNP - - - - - - - - - - - - - - - - - - tier3 944 0 0 1414 2 0.141242937853107 444 3 0.671140939597315 4 130724689 130724689 G C SNP ENSG00000249618 ENST00000513875 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-422J15.1 Clone_based_vega_gene ENSG00000249618 tier3 722 0 0 927 3 0.321543408360129 395 0 0 4 132089995 132089995 T G SNP - - - - - - - - - - - - - - - - - - tier3 633 0 0 839 2 0.237529691211401 268 3 1.1070110701107 4 132110148 132110148 G T SNP - - - - - - - - - - - - - - - - - - tier3 1429 0 0 1958 6 0.305498981670061 691 0 0 4 132155147 132155147 A C SNP ENSG00000206782 ENST00000384055 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-39250 NULL 0.004 - - - no_errors U6 RFAM ENSG00000206782 tier4 244 0 0 298 5 1.65016501650165 155 1 0.632911392405063 4 132374958 132374958 A G SNP ENSG00000250102 ENST00000500169 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-314N14.1 Clone_based_vega_gene ENSG00000250102 tier3 703 0 0 470 344 42.2604422604423 344 58 14.4278606965174 4 132595149 132595149 T A SNP ENSG00000241392 ENST00000490174 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*46268 NULL 0.001 - - - no_errors Metazoa_SRP RFAM ENSG00000241392 tier3 605 0 0 847 4 0.470035252643948 375 0 0 4 133063316 133063316 C A SNP ENSG00000251598 ENST00000420721 human ensembl 70_37 -1 known 5_prime_flanking_region c.-18130 NULL 0.122 - - - no_errors RP11-789C2.1 Clone_based_vega_gene ENSG00000251598 tier4 1023 1 0.0974658869395711 1288 1 0.0775193798449612 497 65 11.4840989399293 4 133330336 133330336 G T SNP ELL2P2 ENST00000515135 human ensembl 70_37 -1 known 5_prime_flanking_region c.-40702 NULL 0.004 - - - no_coding_region:pseudogene ELL2P2 HGNC ENSG00000251051 tier4 1299 0 0 862 682 44.1138421733506 468 103 18.006993006993 4 133999373 133999373 T G SNP ENSG00000250241 ENST00000506897 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-9G1.3 Clone_based_vega_gene ENSG00000250241 tier4 1336 0 0 1703 2 0.117302052785924 557 6 1.06382978723404 4 134203482 134203482 A C SNP - - - - - - - - - - - - - - - - - - tier4 860 0 0 1171 1 0.0853242320819113 379 3 0.78125 4 135069910 135069910 T C SNP PABPC4L ENST00000529122 human ensembl 70_37 -1 known 3_prime_flanking_region c.*51152 NULL 0.000 - - - no_errors PABPC4L HGNC ENSG00000254535 tier3 1158 0 0 1702 2 0.117370892018779 456 4 0.865800865800866 4 135106042 135106042 A G SNP PABPC4L ENST00000529122 human ensembl 70_37 -1 known 3_prime_flanking_region c.*15020 NULL 0.362 - - - no_errors PABPC4L HGNC ENSG00000254535 tier4 1357 1 0.0736377025036819 906 784 46.3905325443787 641 145 18.4478371501272 4 135345681 135345681 C A SNP ENSG00000251291 ENST00000503009 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.000 - - - no_errors RP11-400D2.3 Clone_based_vega_gene ENSG00000251291 tier3 643 0 0 968 2 0.206185567010309 270 3 1.08303249097473 4 135643703 135643703 C G SNP ENSG00000249000 ENST00000504882 human ensembl 70_37 +1 known 5_prime_flanking_region c.-36851 NULL 0.000 - - - no_errors CTD-2012I17.1 Clone_based_vega_gene ENSG00000249000 tier4 1274 0 0 1510 164 9.78520286396181 605 0 0 4 135988397 135988397 G T SNP ENSG00000248434 ENST00000508605 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-553P9.2 Clone_based_vega_gene ENSG00000248434 tier1 775 0 0 1035 3 0.289017341040462 410 6 1.43884892086331 4 136830258 136830258 C T SNP LINC00613 ENST00000508714 human ensembl 70_37 -1 known intronic c.NULL NULL 0.081 - - - no_errors LINC00613 HGNC ENSG00000248330 tier4 1032 0 0 738 643 46.5267727930535 362 91 20.0883002207506 4 138676424 138676424 C T SNP ENSG00000250777 ENST00000510922 human ensembl 70_37 -1 known 5_prime_flanking_region c.-20293 NULL 0.051 - - - no_errors RP13-884E18.4 Clone_based_vega_gene ENSG00000250777 tier3 987 0 0 1273 2 0.156739811912226 482 2 0.412371134020619 4 139498318 139498318 A G SNP ENSG00000248795 ENST00000502915 human ensembl 70_37 +1 known 3_prime_flanking_region c.*15223 NULL 0.006 - - - no_coding_region:pseudogene RP11-173E2.1 Clone_based_vega_gene ENSG00000248795 tier4 1234 1 0.0809716599190283 887 702 44.1509433962264 444 112 20.1438848920863 4 142850410 142850410 T G SNP - - - - - - - - - - - - - - - - - - tier3 1034 0 0 1265 3 0.236406619385343 443 1 0.225225225225225 4 142948749 142948749 C A SNP INPP4B ENST00000513000 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*1186 NULL 0.000 - - - no_errors INPP4B HGNC ENSG00000109452 tier3 549 0 0 724 2 0.274725274725275 271 0 0 4 143241081 143241081 A G SNP INPP4B ENST00000509777 human ensembl 70_37 -1 known intronic c.373-5166 e5-5166 0.001 - - - no_errors INPP4B HGNC ENSG00000109452 tier4 573 0 0 702 4 0.56657223796034 290 0 0 4 143256989 143256989 A G SNP INPP4B ENST00000509777 human ensembl 70_37 -1 known intronic c.373-21074 e5-21074 0.002 - - - no_errors INPP4B HGNC ENSG00000109452 tier4 552 0 0 761 2 0.262123197903014 290 0 0 4 143472121 143472121 T G SNP INPP4B ENST00000509777 human ensembl 70_37 -1 known intronic c.1-88242 e1-88242 0.002 - - - no_errors INPP4B HGNC ENSG00000109452 tier4 1242 0 0 1639 2 0.12187690432663 491 0 0 4 144984814 144984814 T G SNP GYPB ENST00000283126 human ensembl 70_37 -1 known intronic c.38-62378 e2-62378 0.116 - - - no_errors GYPB HGNC ENSG00000250361 tier4 1902 0 0 2646 2 0.0754716981132075 638 0 0 4 145075860 145075860 A T SNP GYPA ENST00000360771 human ensembl 70_37 -1 known 5_prime_flanking_region c.-14072 NULL 0.458 - - - no_errors GYPA HGNC ENSG00000170180 tier4 951 0 0 1199 4 0.332502078137988 401 1 0.248756218905473 4 145811111 145811111 T C SNP ENSG00000250406 ENST00000512833 human ensembl 70_37 +1 known 3_prime_flanking_region c.*15172 NULL 0.004 - - - no_errors RP13-539F13.3 Clone_based_vega_gene ENSG00000250406 tier4 1271 0 0 1814 1 0.0550660792951542 593 2 0.336134453781513 4 147602108 147602108 G A SNP TTC29 ENST00000398886 human ensembl 70_37 -1 known 3_prime_flanking_region c.*26202 NULL 0.111 - - - no_errors TTC29 HGNC ENSG00000137473 tier4 918 1 0.108813928182807 755 487 39.2109500805153 370 88 19.047619047619 4 148299392 148299392 G A SNP MIR548G ENST00000408442 human ensembl 70_37 -1 known 5_prime_flanking_region c.-33523 NULL 0.000 - - - no_errors MIR548G HGNC ENSG00000221369 tier3 1649 2 0.121065375302663 1044 921 46.8702290076336 579 129 18.2203389830508 4 149594720 149594720 C T SNP ENSG00000250357 ENST00000504874 human ensembl 70_37 +1 putative 5_prime_flanking_region c.-19464 NULL 0.000 - - - no_errors RP11-503L19.1 Clone_based_vega_gene ENSG00000250357 tier4 347 0 0 252 154 37.9310344827586 181 35 16.2037037037037 4 149837609 149837609 G A SNP ENSG00000249317 ENST00000504394 human ensembl 70_37 -1 putative 3_prime_flanking_region c.*24484 NULL 0.000 - - - no_errors CTB-191D16.1 Clone_based_vega_gene ENSG00000249317 tier4 1136 1 0.0878734622144112 744 611 45.0922509225092 418 100 19.0114068441065 4 150350608 150350608 C A SNP ENSG00000234828 ENST00000506683 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-526A4.1 Clone_based_vega_gene ENSG00000234828 tier3 792 0 0 1067 3 0.280373831775701 402 5 1.22850122850123 4 151481477 151481477 C A SNP LRBA ENST00000357115 human ensembl 70_37 -1 known intronic c.6363+27723 e40+27723 0.005 - - - no_errors LRBA HGNC ENSG00000198589 tier3 1107 0 0 1469 2 0.135961930659415 418 3 0.709219858156028 4 152668211 152668211 T G SNP PET112 ENST00000263985 human ensembl 70_37 -1 known intronic c.327+11713 e2+11713 0.000 - - - no_errors PET112 HGNC ENSG00000059691 tier4 896 0 0 1255 2 0.159108989657916 387 0 0 4 152707205 152707205 T C SNP PET112 ENST00000263985 human ensembl 70_37 -1 known 5_prime_flanking_region c.-25071 NULL 0.669 - - - no_errors PET112 HGNC ENSG00000059691 tier4 1286 0 0 1720 4 0.232018561484919 560 4 0.709219858156028 4 153323780 153323780 A C SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known intronic c.501+8675 e1+8675 0.002 - - - no_errors FBXW7 HGNC ENSG00000109670 tier4 1143 0 0 1442 2 0.138504155124654 619 1 0.161290322580645 4 153371926 153371926 T C SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known intronic c.1-38902 e1-38902 0.001 - - - no_errors FBXW7 HGNC ENSG00000109670 tier3 975 0 0 1365 2 0.146198830409357 398 0 0 4 153436887 153436887 A G SNP FBXW7 ENST00000281708 human ensembl 70_37 -1 known intronic c.1+19206 e0+19206 0.002 - - - no_errors FBXW7 HGNC ENSG00000109670 tier4 913 0 0 1353 4 0.294767870302137 374 1 0.266666666666667 4 154317237 154317237 T C SNP MND1 ENST00000240488 human ensembl 70_37 +1 known intronic c.352-1134 e6-1134 0.010 - - - no_errors MND1 HGNC ENSG00000121211 tier3 1108 0 0 815 713 46.6623036649215 466 104 18.2456140350877 4 154964971 154964971 C T SNP - - - - - - - - - - - - - - - - - - tier3 930 0 0 1137 143 11.171875 516 0 0 4 155239539 155239539 A G SNP DCHS2 ENST00000357232 human ensembl 70_37 -1 known intronic c.3655+1992 e14+1992 0.001 - - - no_errors DCHS2 HGNC ENSG00000197410 tier4 1029 0 0 1373 4 0.290486564996369 420 2 0.4739336492891 4 155534303 155534303 A G SNP FGA ENST00000302053 human ensembl 70_37 -1 known 5_prime_flanking_region c.-22464 NULL 0.013 - - - no_errors FGA HGNC ENSG00000171560 tier3 1120 0 0 1539 2 0.129785853341986 502 1 0.198807157057654 4 155738294 155738294 T A SNP RBM46 ENST00000281722 human ensembl 70_37 +1 known intronic c.1403-10726 e4-10726 0.011 - - - no_errors RBM46 HGNC ENSG00000151962 tier4 1248 0 0 779 659 45.8275382475661 428 115 21.1786372007366 4 156779843 156779843 C A SNP ASIC5 ENST00000537611 human ensembl 70_37 -1 known intronic c.348-4377 e3-4377 0.008 - - - no_errors ASIC5 HGNC ENSG00000256394 tier4 1120 0 0 1612 2 0.123915737298637 533 0 0 4 157196436 157196436 A C SNP ENSG00000221189 ENST00000408262 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*21277 NULL 0.097 - - - no_errors AC108211.1 Clone_based_ensembl_gene ENSG00000221189 tier4 1521 0 0 2098 2 0.0951927653498334 514 0 0 4 158336183 158336183 T C SNP GRIA2 ENST00000296526 human ensembl 70_37 +1 known 3_prime_flanking_region c.*51987 NULL 0.000 - - - no_errors GRIA2 HGNC ENSG00000120251 tier4 522 0 0 654 1 0.152671755725191 259 2 0.766283524904215 4 159543869 159543869 A G SNP RXFP1 ENST00000307765 human ensembl 70_37 +1 known intronic c.756-4103 e10-4103 0.000 - - - no_errors RXFP1 HGNC ENSG00000171509 tier4 1015 0 0 1549 3 0.193298969072165 463 5 1.06837606837607 4 160495500 160495500 C T SNP - - - - - - - - - - - - - - - - - - tier4 1568 1 0.0637348629700446 1292 1016 44.0207972270364 655 138 17.3149309912171 4 160774232 160774232 A C SNP - - - - - - - - - - - - - - - - - - tier4 708 0 0 1001 2 0.199401794616152 301 0 0 4 161134737 161134737 C T SNP - - - - - - - - - - - - - - - - - - tier3 761 1 0.131233595800525 729 358 32.9346826126955 460 0 0 4 161467015 161467015 G A SNP ENSG00000249425 ENST00000512652 human ensembl 70_37 +1 known intronic c.NULL NULL 0.142 - - - no_errors RP11-502M1.2 Clone_based_vega_gene ENSG00000249425 tier4 668 0 0 496 478 49.025641025641 260 77 22.7138643067847 4 162298826 162298826 G A SNP ENSG00000249568 ENST00000508189 human ensembl 70_37 +1 known 5_prime_flanking_region c.-1279 NULL 0.585 - - - no_errors RP11-234O6.2 Clone_based_vega_gene ENSG00000249568 tier4 1485 0 0 1085 836 43.4963579604579 555 168 23.1086657496561 4 164434579 164434579 T G SNP TMA16 ENST00000358572 human ensembl 70_37 +1 known intronic c.154+568 e3+568 0.001 - - - no_errors TMA16 HGNC ENSG00000198498 tier3 1385 0 0 2127 2 0.093764650726676 658 0 0 4 166827625 166827625 G T SNP TLL1 ENST00000061240 human ensembl 70_37 +1 known intronic c.169+32400 e1+32400 0.081 - - - no_errors TLL1 HGNC ENSG00000038295 tier4 1122 0 0 1461 2 0.136518771331058 516 7 1.33843212237094 4 167044177 167044177 G A SNP TLL1 ENST00000061240 human ensembl 70_37 +1 known 3_prime_flanking_region c.*22149 NULL 0.000 - - - no_errors TLL1 HGNC ENSG00000038295 tier3 893 0 0 622 463 42.633517495396 332 89 21.0401891252955 4 168233045 168233045 A G SNP ENSG00000250150 ENST00000509096 human ensembl 70_37 -1 known 5_prime_flanking_region c.-3105 NULL 0.356 - - - no_errors RP11-436A7.1 Clone_based_vega_gene ENSG00000250150 tier4 1459 0 0 1021 835 44.9649973074852 560 155 21.6783216783217 4 168855622 168855622 G A SNP ENSG00000248601 ENST00000506926 human ensembl 70_37 -1 known 3_prime_flanking_region c.*12203 NULL 0.004 - - - no_errors RP11-310I9.1 Clone_based_vega_gene ENSG00000248601 tier4 563 0 0 340 262 43.4494195688226 264 65 19.7568389057751 4 170511984 170511984 C A SNP NEK1 ENST00000507142 human ensembl 70_37 -1 known intronic c.313-24 e4-24 0.047 - - - no_errors NEK1 HGNC ENSG00000137601 tier3 904 0 0 1448 3 0.206753962784287 537 6 1.10091743119266 4 170695612 170695612 T G SNP C4orf27 ENST00000393381 human ensembl 70_37 -1 known 5_prime_flanking_region c.-16584 NULL 0.001 - - - no_errors C4orf27 HGNC ENSG00000056050 tier4 1090 0 0 1630 2 0.122549019607843 556 0 0 4 171030739 171030739 T G SNP AADAT ENST00000509167 human ensembl 70_37 -1 known 5_prime_flanking_region c.-19898 NULL 0.000 - - - no_errors AADAT HGNC ENSG00000109576 tier3 2179 0 0 3184 2 0.0627746390458255 980 0 0 4 171371401 171371401 T C SNP ENSG00000250082 ENST00000511259 human ensembl 70_37 -1 known 3_prime_flanking_region c.*31445 NULL 0.051 - - - no_coding_region:pseudogene RP11-796L2.1 Clone_based_vega_gene ENSG00000250082 tier4 900 0 0 1330 2 0.15015015015015 452 0 0 4 171432581 171432581 T C SNP ENSG00000250082 ENST00000511259 human ensembl 70_37 -1 known 5_prime_flanking_region c.-29235 NULL 0.000 - - - no_coding_region:pseudogene RP11-796L2.1 Clone_based_vega_gene ENSG00000250082 tier3 972 0 0 705 465 39.7435897435897 417 85 16.9322709163347 4 171878809 171878809 T C SNP - - - - - - - - - - - - - - - - - - tier4 1445 0 0 1018 761 42.7768409218662 465 106 18.5639229422067 4 172505397 172505397 T G SNP ENSG00000251176 ENST00000399152 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-19979 NULL 0.004 - - - no_errors RP11-97E7.1 Clone_based_vega_gene ENSG00000251176 tier4 859 0 0 1148 3 0.260642919200695 366 1 0.272479564032698 4 173669758 173669758 T G SNP GALNTL6 ENST00000506823 human ensembl 70_37 +1 known intronic c.554-60754 e5-60754 0.069 - - - no_errors GALNTL6 HGNC ENSG00000174473 tier4 1654 0 0 2336 2 0.0855431993156544 603 0 0 4 173990117 173990117 T G SNP GALNTL6 ENST00000506823 human ensembl 70_37 +1 known 3_prime_flanking_region c.*28866 NULL 0.615 - - - no_errors GALNTL6 HGNC ENSG00000174473 tier4 637 0 0 970 2 0.205549845837616 314 1 0.315457413249211 4 174250665 174250665 T G SNP ENSG00000248774 ENST00000507803 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.012 - - - no_errors RP11-798M19.3 Clone_based_vega_gene ENSG00000248774 tier3 973 0 0 1337 2 0.149365197908887 428 0 0 4 174932543 174932543 G A SNP ENSG00000251216 ENST00000511291 human ensembl 70_37 -1 known 5_prime_flanking_region c.-20541 NULL 0.000 - - - no_errors RP11-161D15.3 Clone_based_vega_gene ENSG00000251216 tier3 1081 0 0 964 464 32.4702589223233 573 0 0 4 175755099 175755099 A T SNP ADAM29 ENST00000507652 human ensembl 70_37 +1 known intronic c.NULL NULL 0.003 - - - no_errors ADAM29 HGNC ENSG00000168594 tier4 2835 0 0 4001 2 0.0499375780274657 857 2 0.232828870779977 4 176171698 176171698 A C SNP ENSG00000249284 ENST00000510748 human ensembl 70_37 +1 known 5_prime_flanking_region c.-36058 NULL 0.038 - - - no_coding_region:pseudogene RP11-287F9.1 Clone_based_vega_gene ENSG00000249284 tier4 375 0 0 474 4 0.836820083682008 172 0 0 4 176505728 176505728 A G SNP GPM6A ENST00000280187 human ensembl 70_37 -1 known 3_prime_flanking_region c.*50328 NULL 0.587 - - - no_errors GPM6A HGNC ENSG00000150625 tier4 926 2 0.21551724137931 663 571 46.2722852512156 369 82 18.1818181818182 4 176629597 176629597 C T SNP GPM6A ENST00000280187 human ensembl 70_37 -1 known intronic c.38-6679 e2-6679 0.000 - - - no_errors GPM6A HGNC ENSG00000150625 tier4 940 1 0.106269925611052 1518 33 2.12765957446809 172 52 23.0088495575221 4 178587721 178587721 G T SNP ENSG00000250131 ENST00000507023 human ensembl 70_37 +1 known intronic c.NULL NULL 0.003 - - - no_errors RP11-130F10.1 Clone_based_vega_gene ENSG00000250131 tier4 241 0 0 292 39 11.7469879518072 183 0 0 4 180353024 180353024 T C SNP ENSG00000250993 ENST00000512036 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.000 - - - no_errors RP11-404J23.1 Clone_based_vega_gene ENSG00000250993 tier3 452 0 0 516 6 1.1472275334608 250 4 1.5748031496063 4 181747553 181747553 A T SNP - - - - - - - - - - - - - - - - - - tier3 1196 0 0 1585 3 0.188916876574307 634 0 0 4 182158849 182158849 A G SNP ENSG00000248770 ENST00000503847 human ensembl 70_37 -1 known 5_prime_flanking_region c.-132 NULL 0.000 - - - no_coding_region:pseudogene RP11-665C14.1 Clone_based_vega_gene ENSG00000248770 tier3 1379 0 0 908 819 47.4232773595831 514 112 17.8913738019169 4 182687894 182687894 G A SNP - - - - - - - - - - - - - - - - - - tier4 1368 1 0.0730460189919649 988 798 44.6558477895915 519 101 16.2379421221865 4 183572042 183572042 A T SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known intronic c.989-2882 e5-2882 0.002 - - - no_errors TENM3 HGNC ENSG00000218336 tier4 481 9 1.83673469387755 519 136 20.763358778626 193 4 2.03045685279188 4 183711713 183711713 A C SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known intronic c.5601+1171 e24+1171 0.000 - - - no_errors TENM3 HGNC ENSG00000218336 tier3 434 0 0 528 3 0.564971751412429 208 0 0 4 184759764 184759764 T G SNP STOX2 ENST00000511250 human ensembl 70_37 +1 putative 5_prime_flanking_region c.-14820 NULL 0.001 - - - no_errors STOX2 HGNC ENSG00000173320 tier3 459 0 0 715 3 0.417827298050139 252 1 0.395256916996047 4 184999207 184999207 T G SNP ENPP6 ENST00000296741 human ensembl 70_37 -1 known 3_prime_flanking_region c.*13123 NULL 0.000 - - - no_errors ENPP6 HGNC ENSG00000164303 tier4 1949 0 0 2707 2 0.0737735153080044 781 1 0.127877237851662 4 185430152 185430152 T G SNP IRF2 ENST00000393593 human ensembl 70_37 -1 known 5_prime_flanking_region c.-79934 NULL 0.016 - - - no_errors IRF2 HGNC ENSG00000168310 tier3 1067 0 0 1842 2 0.108459869848156 509 2 0.391389432485323 4 186762160 186762160 T G SNP SORBS2 ENST00000284776 human ensembl 70_37 -1 known intronic c.1-65640 e1-65640 0.000 - - - no_errors SORBS2 HGNC ENSG00000154556 tier4 863 0 0 668 620 48.0993017843289 369 69 15.7175398633257 4 187251689 187251689 T G SNP LOC285441 ENST00000505103 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-215A19.1 Clone_based_vega_gene ENSG00000251165 tier4 1930 0 0 2718 2 0.0735294117647059 869 1 0.114942528735632 4 188556079 188556079 T A SNP ENSG00000249642 ENST00000505488 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-565A3.1 Clone_based_vega_gene ENSG00000249642 tier3 2135 1 0.0467726847521048 1462 1287 46.8 758 171 18.3673469387755 4 189039406 189039406 G A SNP TRIML1 ENST00000332517 human ensembl 70_37 +1 known 5_prime_flanking_region c.-21307 NULL 0.109 - - - no_errors TRIML1 HGNC ENSG00000184108 tier4 325 0 0 254 199 43.9293598233996 148 22 12.9411764705882 4 189230812 189230812 G A SNP ENSG00000242169 ENST00000494861 human ensembl 70_37 -1 known 3_prime_flanking_region c.*39718 NULL 0.000 - - - no_coding_region:pseudogene RP11-219G10.1 Clone_based_vega_gene ENSG00000242169 tier3 882 0 0 1212 33 2.64423076923077 507 0 0 4 190580207 190580207 A C SNP ENSG00000250739 ENST00000513681 human ensembl 70_37 +1 known 5_prime_flanking_region c.-552 NULL 0.000 - - - no_errors RP11-462G22.1 Clone_based_vega_gene ENSG00000250739 tier3 2477 0 0 2844 2 0.0702493853178785 1145 4 0.347523892267593 4 190595505 190595505 A C SNP ENSG00000250739 ENST00000513681 human ensembl 70_37 +1 known 3_prime_flanking_region c.*12865 NULL 0.000 - - - no_errors RP11-462G22.1 Clone_based_vega_gene ENSG00000250739 tier3 2441 0 0 2922 2 0.0683994528043776 1136 0 0 4 190623035 190623035 C A SNP ENSG00000250739 ENST00000513681 human ensembl 70_37 +1 known 3_prime_flanking_region c.*40395 NULL 0.006 - - - no_errors RP11-462G22.1 Clone_based_vega_gene ENSG00000250739 tier4 2281 0 0 2893 2 0.0690846286701209 1298 4 0.306278713629403 4 190627794 190627794 C A SNP ENSG00000250739 ENST00000513681 human ensembl 70_37 +1 known 3_prime_flanking_region c.*45154 NULL 0.000 - - - no_errors RP11-462G22.1 Clone_based_vega_gene ENSG00000250739 tier4 1387 0 0 1767 2 0.113058224985868 810 4 0.491400491400491 4 190756863 190756863 A C SNP ENSG00000245685 ENST00000508156 human ensembl 70_37 -1 known intronic c.NULL NULL 0.110 - - - no_errors AF146191.4 Clone_based_vega_gene ENSG00000245685 tier4 68 0 0 110 2 1.78571428571429 63 2 3.07692307692308 4 190801206 190801206 T G SNP ENSG00000245685 ENST00000508156 human ensembl 70_37 -1 known intronic c.NULL NULL 0.021 - - - no_errors AF146191.4 Clone_based_vega_gene ENSG00000245685 tier3 751 0 0 876 2 0.227790432801822 339 0 0 5 297161 297161 T G SNP PDCD6 ENST00000264933 human ensembl 70_37 +1 known intronic c.164-7131 e3-7131 0.016 - - - no_errors PDCD6 HGNC ENSG00000249915 tier3 230 0 0 355 3 0.837988826815642 171 0 0 5 363240 363240 T G SNP AHRR ENST00000316418 human ensembl 70_37 +1 known intronic c.256+9214 e3+9214 0.001 - - - no_errors AHRR HGNC ENSG00000063438 tier4 513 0 0 763 4 0.521512385919166 264 1 0.377358490566038 5 1526037 1526037 G A SNP LPCAT1 ENST00000283415 human ensembl 70_37 -1 known 5_prime_flanking_region c.-2078 NULL 0.111 - - - no_errors LPCAT1 HGNC ENSG00000153395 tier4 548 0 0 507 254 33.377135348226 279 0 0 5 1619569 1619569 A C SNP ENSG00000188002 ENST00000507290 human ensembl 70_37 -1 known intronic c.NULL NULL 0.332 - - - no_errors RP11-43F13.1 Clone_based_vega_gene ENSG00000188002 tier4 113 0 0 131 2 1.50375939849624 109 1 0.909090909090909 5 1780859 1780859 T C SNP NDUFS6 ENST00000274137 human ensembl 70_37 +1 known 5_prime_flanking_region c.-20673 NULL 0.018 - - - no_errors NDUFS6 HGNC ENSG00000145494 tier4 471 0 0 589 2 0.338409475465313 238 0 0 5 2110410 2110410 A G SNP - - - - - - - - - - - - - - - - - - tier3 1037 0 0 1381 2 0.144613159797542 536 0 0 5 2198813 2198813 G C SNP ENSG00000201026 ENST00000364156 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*13879 NULL 0.000 - - - no_errors Y_RNA RFAM ENSG00000201026 tier3 1538 1 0.0648929266709929 952 758 44.2240373395566 497 65 11.5658362989324 5 2395150 2395150 C T SNP - - - - - - - - - - - - - - - - - - tier3 728 0 0 480 358 42.7207637231504 288 61 17.4785100286533 5 3182690 3182690 T C SNP ENSG00000249808 ENST00000505396 human ensembl 70_37 +1 known 3_prime_flanking_region c.*1344 NULL 1.000 - - - no_errors CTD-2029E14.1 Clone_based_vega_gene ENSG00000249808 tier2 446 0 0 601 2 0.33167495854063 184 0 0 5 3449387 3449387 A C SNP LOC285577 ENST00000505443 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-121L11.1 Clone_based_vega_gene ENSG00000248118 tier3 231 0 0 249 2 0.796812749003984 106 2 1.85185185185185 5 7852510 7852510 G A SNP MTRR ENST00000502509 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors MTRR HGNC ENSG00000124275 tier3 866 1 0.115340253748558 585 498 45.8986175115207 323 98 23.2779097387173 5 8007995 8007995 T G SNP ENSG00000199773 ENST00000362903 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*27578 NULL 0.200 - - - no_errors U1 RFAM ENSG00000199773 tier4 683 0 0 863 3 0.346020761245675 306 1 0.323624595469256 5 8043444 8043444 T G SNP - - - - - - - - - - - - - - - - - - tier4 1805 0 0 2380 4 0.167714884696017 667 1 0.149700598802395 5 9311293 9311293 G T SNP SEMA5A ENST00000382496 human ensembl 70_37 -1 known intronic c.270+7191 e3+7191 0.000 - - - no_errors SEMA5A HGNC ENSG00000112902 tier4 1132 0 0 819 718 46.6840052015605 394 92 18.9300411522634 5 9587479 9587479 T G SNP SEMA5A ENST00000382496 human ensembl 70_37 -1 known 5_prime_flanking_region c.-207421 NULL 0.000 - - - no_errors SEMA5A HGNC ENSG00000112902 tier3 1083 0 0 1369 3 0.21849963583394 483 0 0 5 9915377 9915377 G A SNP LOC285692 ENST00000511616 human ensembl 70_37 -1 known 5_prime_flanking_region c.-11439 NULL 0.047 - - - no_errors CTD-2143L24.1 Clone_based_vega_gene ENSG00000249781 tier3 388 0 0 287 259 47.3491773308958 195 48 19.5918367346939 5 9951721 9951721 A C SNP LOC285692 ENST00000511616 human ensembl 70_37 -1 known 5_prime_flanking_region c.-47783 NULL 0.001 - - - no_errors CTD-2143L24.1 Clone_based_vega_gene ENSG00000249781 tier3 570 0 0 764 4 0.520833333333333 305 3 0.974025974025974 5 10430901 10430901 G T SNP MARCH6 ENST00000274140 human ensembl 70_37 +1 known intronic c.2642+761 e25+761 0.000 - - - no_errors MARCH6 HGNC ENSG00000145495 tier3 989 3 0.30241935483871 1496 9 0.598006644518272 468 12 2.5 5 11664069 11664069 C A SNP CTNND2 ENST00000304623 human ensembl 70_37 -1 known intronic c.174+68179 e2+68179 0.000 - - - no_errors CTNND2 HGNC ENSG00000169862 tier3 867 0 0 1195 2 0.166944908180301 368 0 0 5 11832802 11832802 C T SNP CTNND2 ENST00000304623 human ensembl 70_37 -1 known intronic c.37+71127 e1+71127 0.039 - - - no_errors CTNND2 HGNC ENSG00000169862 tier4 1633 1 0.0611995104039168 1096 1022 48.2530689329556 439 134 23.3856893542757 5 11886659 11886659 G A SNP CTNND2 ENST00000304623 human ensembl 70_37 -1 known intronic c.37+17270 e1+17270 0.000 - - - no_errors CTNND2 HGNC ENSG00000169862 tier4 1474 0 0 1091 750 40.7166123778502 614 115 15.7750342935528 5 11943691 11943691 A G SNP CTNND2 ENST00000304623 human ensembl 70_37 -1 known 5_prime_flanking_region c.-39726 NULL 0.001 - - - no_errors CTNND2 HGNC ENSG00000169862 tier4 870 0 0 1191 2 0.16750418760469 482 1 0.206611570247934 5 13095897 13095897 A T SNP - - - - - - - - - - - - - - - - - - tier4 1506 0 0 1072 815 43.1673728813559 511 137 21.141975308642 5 14791868 14791868 A C SNP ANKH ENST00000284268 human ensembl 70_37 -1 known intronic c.97-22568 e2-22568 0.003 - - - no_errors ANKH HGNC ENSG00000154122 tier3 611 0 0 915 2 0.218102508178844 299 1 0.333333333333333 5 14822842 14822842 A C SNP ANKH ENST00000284268 human ensembl 70_37 -1 known intronic c.96+48619 e1+48619 0.002 - - - no_errors ANKH HGNC ENSG00000154122 tier3 1186 0 0 1700 6 0.351699882766706 455 4 0.871459694989107 5 15069273 15069273 C G SNP ENSG00000249332 ENST00000502680 human ensembl 70_37 -1 known 3_prime_flanking_region c.*43213 NULL 0.008 - - - no_errors RP1-251I12.1 Clone_based_vega_gene ENSG00000249332 tier4 559 0 0 796 2 0.25062656641604 310 1 0.319488817891374 5 15745827 15745827 C T SNP FBXL7 ENST00000504595 human ensembl 70_37 +1 known intronic c.127+129646 e2+129646 0.000 - - - no_errors FBXL7 HGNC ENSG00000183580 tier4 1860 1 0.0537345513164965 1140 1109 49.3108048021343 584 96 14.014598540146 5 16065742 16065742 A T SNP RNA5SP178 ENST00000410380 human ensembl 70_37 -1 known 5_prime_flanking_region c.-32277 NULL 0.005 - - - no_errors RNA5SP178 HGNC ENSG00000222312 tier3 1405 0 0 1738 3 0.172314761631246 598 0 0 5 16376324 16376324 A C SNP ENSG00000248150 ENST00000513157 human ensembl 70_37 -1 known intronic c.NULL NULL 0.003 - - - no_errors RP1-167G20.1 Clone_based_vega_gene ENSG00000248150 tier3 1071 0 0 1394 2 0.143266475644699 469 3 0.635593220338983 5 16809396 16809396 C A SNP MYO10 ENST00000513610 human ensembl 70_37 -1 known intronic c.279+8722 e3+8722 0.000 - - - no_errors MYO10 HGNC ENSG00000145555 tier3 412 0 0 346 269 43.739837398374 216 22 9.2436974789916 5 17239582 17239582 A G SNP BASP1 ENST00000322611 human ensembl 70_37 +1 known intronic c.1+21663 e0+21663 0.000 - - - no_errors BASP1 HGNC ENSG00000176788 tier3 1732 3 0.172910662824207 1309 1155 46.8369829683698 725 146 16.7623421354765 5 20755289 20755289 G T SNP ENSG00000251629 ENST00000502427 human ensembl 70_37 +1 known intronic c.NULL NULL 0.013 - - - no_errors RP11-774D14.1 Clone_based_vega_gene ENSG00000251629 tier3 949 0 0 1255 3 0.238284352660842 489 0 0 5 21197515 21197515 C T SNP ENSG00000248286 ENST00000502928 human ensembl 70_37 +1 known 3_prime_flanking_region c.*546 NULL 0.000 - - - no_coding_region:pseudogene RP11-811J10.1 Clone_based_vega_gene ENSG00000248286 tier3 1458 1 0.0685400959561343 986 778 44.1043083900227 482 114 19.1275167785235 5 22559708 22559708 T G SNP CDH12 ENST00000382254 human ensembl 70_37 -1 known intronic c.1-54235 e1-54235 0.005 - - - no_errors CDH12 HGNC ENSG00000154162 tier3 1324 0 0 1874 25 1.31648235913639 616 109 15.0344827586207 5 23424193 23424193 C A SNP ENSG00000248591 ENST00000512356 human ensembl 70_37 +1 known 5_prime_flanking_region c.-32384 NULL 0.027 - - - no_coding_region:pseudogene CTD-2351A8.1 Clone_based_vega_gene ENSG00000248591 tier4 452 1 0.22075055187638 366 306 45.5357142857143 251 63 20.0636942675159 5 23986801 23986801 G A SNP C5orf17 ENST00000512559 human ensembl 70_37 +1 known intronic c.486+5851 e4+5851 0.002 - - - no_errors C5orf17 HGNC ENSG00000248874 tier4 1834 0 0 1056 773 42.2404371584699 505 107 17.483660130719 5 24970094 24970094 G T SNP - - - - - - - - - - - - - - - - - - tier3 1100 0 0 1476 3 0.202839756592292 468 1 0.213219616204691 5 25236431 25236431 C T SNP ENSG00000245662 ENST00000502100 human ensembl 70_37 +1 known intronic c.NULL NULL 0.082 - - - no_errors RP11-184E9.1 Clone_based_vega_gene ENSG00000245662 tier4 1441 0 0 1043 878 45.705361790734 524 117 18.2527301092044 5 25552733 25552733 C T SNP - - - - - - - - - - - - - - - - - - tier4 531 1 0.18796992481203 305 283 48.1292517006803 208 61 22.5092250922509 5 25746113 25746113 C A SNP ENSG00000201016 ENST00000364146 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-44680 NULL 0.001 - - - no_errors U6 RFAM ENSG00000201016 tier3 1292 2 0.154559505409583 1009 766 43.1063590320765 493 98 16.4705882352941 5 26701201 26701201 G T SNP ENSG00000250703 ENST00000509113 human ensembl 70_37 -1 known 5_prime_flanking_region c.-30611 NULL 0.000 - - - no_coding_region:pseudogene CTD-2533K21.1 Clone_based_vega_gene ENSG00000250703 tier3 1116 0 0 1470 2 0.135869565217391 506 3 0.587084148727984 5 26729145 26729145 A G SNP ENSG00000251033 ENST00000506032 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.001 - - - no_errors CTD-2533K21.4 Clone_based_vega_gene ENSG00000251033 tier3 654 0 0 426 359 45.6743002544529 248 48 16.1073825503356 5 27190969 27190969 C A SNP - - - - - - - - - - - - - - - - - - tier3 1181 0 0 1421 2 0.140548137737175 452 4 0.87719298245614 5 28164460 28164460 G C SNP ENSG00000250079 ENST00000510368 human ensembl 70_37 -1 known 3_prime_flanking_region c.*49006 NULL 0.000 - - - no_coding_region:pseudogene RP11-560A7.1 Clone_based_vega_gene ENSG00000250079 tier3 1687 0 0 1070 895 45.5239064089522 543 100 15.552099533437 5 28593732 28593732 C A SNP ENSG00000252867 ENST00000517058 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-31032 NULL 0.002 - - - no_errors U6 RFAM ENSG00000252867 tier4 880 0 0 700 351 33.3967649857279 503 0 0 5 28988746 28988746 A G SNP SUCLG2P4 ENST00000514739 human ensembl 70_37 +1 known 5_prime_flanking_region c.-13121 NULL 0.010 - - - no_coding_region:pseudogene SUCLG2P4 HGNC ENSG00000249226 tier3 570 0 0 767 2 0.259403372243839 285 2 0.696864111498258 5 30306459 30306459 A T SNP - - - - - - - - - - - - - - - - - - tier3 1652 0 0 1128 864 43.3734939759036 643 142 18.0891719745223 5 31499853 31499853 A G SNP DROSHA ENST00000344624 human ensembl 70_37 -1 known intronic c.1669-4374 e9-4374 0.000 - - - no_errors DROSHA HGNC ENSG00000113360 tier4 659 0 0 958 4 0.415800415800416 365 1 0.272479564032698 5 32370432 32370432 A G SNP ZFR ENST00000265069 human ensembl 70_37 -1 known intronic c.2836-6051 e18-6051 0.000 - - - no_errors ZFR HGNC ENSG00000056097 tier4 319 0 0 456 1 0.218818380743982 137 2 1.43884892086331 5 32599762 32599762 G A SNP SUB1 ENST00000265073 human ensembl 70_37 +1 known intronic c.304+587 e3+587 0.004 - - - no_errors SUB1 HGNC ENSG00000113387 tier3 1187 1 0.0839630562552477 817 565 40.8827785817656 521 103 16.5064102564103 5 34034917 34034917 C A SNP C1QTNF3 ENST00000382065 human ensembl 70_37 -1 known intronic c.415+835 e2+835 0.000 - - - no_errors C1QTNF3 HGNC ENSG00000082196 tier3 1151 0 0 1624 1 0.0615006150061501 532 6 1.1070110701107 5 36439258 36439258 T G SNP RNA5SP181 ENST00000410246 human ensembl 70_37 +1 known 5_prime_flanking_region c.-46187 NULL 0.000 - - - no_errors RNA5SP181 HGNC ENSG00000222178 tier4 784 0 0 1115 2 0.17905102954342 339 0 0 5 37420838 37420838 A C SNP WDR70 ENST00000265107 human ensembl 70_37 +1 known intronic c.493-17186 e6-17186 0.321 - - - no_errors WDR70 HGNC ENSG00000082068 tier4 1255 0 0 2007 2 0.099502487562189 452 0 0 5 37825754 37825754 T G SNP GDNF ENST00000326524 human ensembl 70_37 -1 known intronic c.151+8994 e1+8994 0.000 - - - no_errors GDNF HGNC ENSG00000168621 tier3 820 0 0 1143 2 0.174672489082969 342 0 0 5 38141127 38141127 A C SNP ENSG00000250003 ENST00000513039 human ensembl 70_37 +1 known intronic c.NULL NULL 0.087 - - - no_errors CTD-2116N24.1 Clone_based_vega_gene ENSG00000250003 tier3 1532 0 0 2110 2 0.0946969696969697 716 0 0 5 38299223 38299223 T G SNP EGFLAM ENST00000354891 human ensembl 70_37 +1 known intronic c.98-38399 e2-38399 0.003 - - - no_errors EGFLAM HGNC ENSG00000164318 tier4 1220 0 0 1658 2 0.120481927710843 511 5 0.968992248062015 5 42949873 42949873 T G SNP ENSG00000250711 ENST00000503606 human ensembl 70_37 +1 known 5_prime_flanking_region c.-22853 NULL 0.002 - - - no_coding_region:pseudogene CTD-2201E18.1 Clone_based_vega_gene ENSG00000250711 tier2 556 0 0 857 2 0.232828870779977 291 1 0.342465753424658 5 43427997 43427997 C G SNP CCL28 ENST00000361115 human ensembl 70_37 -1 known 5_prime_flanking_region c.-15579 NULL 0.016 - - - no_errors CCL28 HGNC ENSG00000151882 tier4 1963 0 0 3153 2 0.063351282863478 579 2 0.344234079173838 5 44142327 44142327 G T SNP - - - - - - - - - - - - - - - - - - tier4 1347 0 0 1693 4 0.235571260306243 731 0 0 5 45339994 45339994 A G SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known intronic c.1377+13208 e5+13208 0.005 - - - no_errors HCN1 HGNC ENSG00000164588 tier3 1945 0 0 2586 4 0.154440154440154 687 0 0 5 45800644 45800644 C T SNP - - - - - - - - - - - - - - - - - - tier4 501 0 0 380 316 45.2722063037249 258 70 21.0843373493976 5 45845124 45845124 C T SNP ENSG00000250122 ENST00000510987 human ensembl 70_37 +1 known 5_prime_flanking_region c.-45194 NULL 0.000 - - - no_errors CTD-2013M15.1 Clone_based_vega_gene ENSG00000250122 tier3 1207 0 0 824 632 43.4065934065934 377 97 20.464135021097 5 45954458 45954458 C G SNP - - - - - - - - - - - - - - - - - - tier4 969 0 0 1242 2 0.160771704180064 526 0 0 5 46093977 46093977 T C SNP - - - - - - - - - - - - - - - - - - tier4 243 0 0 352 3 0.845070422535211 57 0 0 5 46094150 46094150 G T SNP - - - - - - - - - - - - - - - - - - tier4 1385 0 0 1765 4 0.225988700564972 761 4 0.522875816993464 5 46094157 46094157 C A SNP - - - - - - - - - - - - - - - - - - tier4 1383 0 0 1731 4 0.230547550432277 768 8 1.03092783505155 5 46114554 46114554 G A SNP - - - - - - - - - - - - - - - - - - tier4 1462 0 0 1084 843 43.6109674081738 597 127 17.4931129476584 5 46119100 46119100 G A SNP - - - - - - - - - - - - - - - - - - tier4 574 0 0 662 76 10.2841677943166 392 0 0 5 46125720 46125720 C A SNP - - - - - - - - - - - - - - - - - - tier4 798 1 0.125156445556946 951 145 13.2178669097539 428 0 0 5 46327017 46327017 T G SNP - - - - - - - - - - - - - - - - - - tier4 71 0 0 104 3 2.80373831775701 40 0 0 5 46384189 46384189 T C SNP - - - - - - - - - - - - - - - - - - tier4 2155 0 0 3332 2 0.0599880023995201 994 0 0 5 49460632 49460632 C G SNP - - - - - - - - - - - - - - - - - - tier4 1142 0 0 1771 3 0.169109357384442 665 2 0.298953662182362 5 49472044 49472044 G C SNP - - - - - - - - - - - - - - - - - - tier4 86 0 0 132 2 1.49253731343284 34 0 0 5 49901452 49901452 A C SNP ENSG00000213956 ENST00000455837 human ensembl 70_37 +1 known 5_prime_flanking_region c.-27506 NULL 0.001 - - - no_coding_region:pseudogene RP11-269M20.1 Clone_based_vega_gene ENSG00000213956 tier3 334 0 0 451 3 0.66079295154185 170 4 2.29885057471264 5 50923073 50923073 C T SNP - - - - - - - - - - - - - - - - - - tier4 693 2 0.28735632183908 774 98 11.2256586483391 358 0 0 5 51811978 51811978 T G SNP - - - - - - - - - - - - - - - - - - tier4 1160 0 0 1458 4 0.27359781121751 467 1 0.213675213675214 5 53551081 53551081 A G SNP ARL15 ENST00000504924 human ensembl 70_37 -1 known intronic c.48+55181 e1+55181 0.000 - - - no_errors ARL15 HGNC ENSG00000185305 tier3 1228 0 0 1698 4 0.234879624192601 551 3 0.541516245487365 5 53956009 53956009 C T SNP - - - - - - - - - - - - - - - - - - tier4 1473 0 0 1097 1019 48.1568998109641 559 118 17.3784977908689 5 55040644 55040644 T G SNP DDX4 ENST00000505374 human ensembl 70_37 +1 known intronic c.70-1348 e2-1348 0.001 - - - no_errors DDX4 HGNC ENSG00000152670 tier3 1191 0 0 1698 3 0.176263219741481 571 2 0.349040139616056 5 55557869 55557869 A C SNP ANKRD55 ENST00000341048 human ensembl 70_37 -1 known 5_prime_flanking_region c.-29129 NULL 0.000 - - - no_errors ANKRD55 HGNC ENSG00000164512 tier3 528 0 0 698 2 0.285714285714286 241 5 2.03252032520325 5 56133030 56133030 T C SNP MAP3K1 ENST00000399503 human ensembl 70_37 +1 novel intronic c.483-19397 e2-19397 0.000 - - - no_errors MAP3K1 HGNC ENSG00000095015 tier3 420 0 0 556 2 0.3584229390681 242 1 0.411522633744856 5 56133035 56133035 T C SNP MAP3K1 ENST00000399503 human ensembl 70_37 +1 novel intronic c.483-19392 e2-19392 0.005 - - - no_errors MAP3K1 HGNC ENSG00000095015 tier3 429 0 0 557 1 0.17921146953405 240 2 0.826446280991736 5 56179705 56179705 G T SNP MAP3K1 ENST00000399503 human ensembl 70_37 +1 novel intronic c.3819+199 e15+199 0.004 - - - no_errors MAP3K1 HGNC ENSG00000095015 tier4 367 0 0 318 267 45.6410256410256 275 68 19.7101449275362 5 58571033 58571033 T A SNP PDE4D ENST00000340635 human ensembl 70_37 -1 known intronic c.456-59239 e2-59239 0.000 - - - no_errors PDE4D HGNC ENSG00000113448 tier3 1290 0 0 1672 2 0.1194743130227 586 1 0.170357751277683 5 59064043 59064043 C G SNP PDE4D ENST00000340635 human ensembl 70_37 -1 known intronic c.455+124952 e1+124952 0.007 - - - no_errors PDE4D HGNC ENSG00000113448 tier3 996 1 0.100300902708124 726 543 42.789598108747 325 95 22.6190476190476 5 59064062 59064062 G T SNP PDE4D ENST00000340635 human ensembl 70_37 -1 known intronic c.455+124933 e1+124933 0.011 - - - no_errors PDE4D HGNC ENSG00000113448 tier3 929 2 0.214592274678112 635 498 43.9541041482789 295 87 22.65625 5 59261473 59261473 T C SNP PDE4D ENST00000502484 human ensembl 70_37 -1 known intronic c.272+22842 e2+22842 0.002 - - - no_errors PDE4D HGNC ENSG00000113448 tier3 752 0 0 1065 1 0.0937207122774133 351 2 0.56657223796034 5 59413374 59413374 T G SNP PDE4D ENST00000502484 human ensembl 70_37 -1 known intronic c.42+68010 e1+68010 0.016 - - - no_errors PDE4D HGNC ENSG00000113448 tier2 824 0 0 1281 3 0.233644859813084 459 0 0 5 61599886 61599886 A G SNP KIF2A ENST00000407818 human ensembl 70_37 +1 known 5_prime_flanking_region c.-2414 NULL 0.000 - - - no_errors KIF2A HGNC ENSG00000068796 tier4 1261 0 0 2007 3 0.149179512680259 451 2 0.441501103752759 5 61629945 61629945 A G SNP KIF2A ENST00000407818 human ensembl 70_37 +1 known intronic c.65-13012 e2-13012 0.982 - - - no_errors KIF2A HGNC ENSG00000068796 tier3 354 0 0 457 2 0.435729847494553 209 2 0.947867298578199 5 61741275 61741275 C T SNP IPO11 ENST00000409296 human ensembl 70_37 +1 known intronic c.359+2365 e3+2365 0.006 - - - no_errors IPO11 HGNC ENSG00000086200 tier3 1175 0 0 1591 4 0.250783699059561 618 2 0.321543408360129 5 62848661 62848661 G T SNP - - - - - - - - - - - - - - - - - - tier4 657 0 0 857 7 0.810185185185185 381 2 0.522193211488251 5 62943683 62943683 C T SNP - - - - - - - - - - - - - - - - - - tier4 1732 2 0.115340253748558 1179 966 45.0139794967381 638 136 17.5257731958763 5 64360500 64360500 T A SNP CWC27 ENST00000381070 human ensembl 70_37 +1 known 3_prime_flanking_region c.*46352 NULL 0.002 - - - no_errors CWC27 HGNC ENSG00000153015 tier4 1904 1 0.0523286237571952 2926 6 0.204151071793127 469 6 1.25260960334029 5 64437842 64437842 G T SNP ADAMTS6 ENST00000381055 human ensembl 70_37 -1 known 3_prime_flanking_region c.*9821 NULL 0.042 - - - no_errors ADAMTS6 HGNC ENSG00000049192 tier4 2679 4 0.148975791433892 1884 1585 45.690400691842 863 216 20.0185356811863 5 64650202 64650202 C A SNP ADAMTS6 ENST00000381055 human ensembl 70_37 -1 known intronic c.1074-20290 e7-20290 0.001 - - - no_errors ADAMTS6 HGNC ENSG00000049192 tier4 1415 0 0 1938 2 0.103039670273055 682 2 0.291545189504373 5 66489636 66489636 T C SNP CD180 ENST00000256447 human ensembl 70_37 -1 known intronic c.90+2744 e1+2744 0.001 - - - no_errors CD180 HGNC ENSG00000134061 tier3 723 0 0 955 3 0.312825860271116 329 0 0 5 66492077 66492077 T G SNP CD180 ENST00000256447 human ensembl 70_37 -1 known intronic c.90+303 e1+303 0.000 - - - no_errors CD180 HGNC ENSG00000134061 tier3 1231 0 0 1730 6 0.345622119815668 466 1 0.214132762312634 5 67064407 67064407 A G SNP ENSG00000249364 ENST00000503106 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-434D9.1 Clone_based_vega_gene ENSG00000249364 tier3 951 0 0 1311 3 0.228310502283105 534 0 0 5 67174097 67174097 G C SNP ENSG00000250421 ENST00000510621 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-83M16.6 Clone_based_vega_gene ENSG00000250421 tier4 664 0 0 517 286 35.6164383561644 329 71 17.75 5 67333849 67333849 C T SNP ENSG00000253801 ENST00000522101 human ensembl 70_37 -1 known 3_prime_flanking_region c.*49140 NULL 0.000 - - - no_coding_region:pseudogene CTD-2060F24.1 Clone_based_vega_gene ENSG00000253801 tier3 559 0 0 351 314 47.218045112782 182 46 20.1754385964912 5 69735127 69735127 T C SNP GTF2H2B ENST00000513202 human ensembl 70_37 +1 known intronic c.NULL NULL 0.015 - - - no_errors GTF2H2B HGNC ENSG00000226259 tier4 1898 0 0 3040 3 0.0985869208018403 903 1 0.110253583241455 5 71103889 71103889 T G SNP - - - - - - - - - - - - - - - - - - tier3 431 0 0 549 5 0.902527075812274 257 6 2.28136882129278 5 71830074 71830074 T A SNP ZNF366 ENST00000318442 human ensembl 70_37 -1 known 5_prime_flanking_region c.-72751 NULL 0.025 - - - no_errors ZNF366 HGNC ENSG00000178175 tier3 1223 0 0 1657 3 0.180722891566265 591 2 0.337268128161889 5 72408766 72408766 A G SNP TMEM171 ENST00000454765 human ensembl 70_37 +1 known 5_prime_flanking_region c.-10435 NULL 0.002 - - - no_errors TMEM171 HGNC ENSG00000157111 tier3 1379 0 0 1983 1 0.0504032258064516 617 6 0.963081861958266 5 73037236 73037236 A G SNP ARHGEF28 ENST00000545377 human ensembl 70_37 +1 known intronic c.34-8426 e2-8426 0.005 - - - no_errors ARHGEF28 HGNC ENSG00000214944 tier4 159 0 0 165 5 2.94117647058824 44 2 4.34782608695652 5 75355633 75355633 T C SNP SV2C ENST00000502798 human ensembl 70_37 +1 known 5_prime_flanking_region c.-71943 NULL 0.009 - - - no_errors SV2C HGNC ENSG00000122012 tier4 761 0 0 881 71 7.4501573976915 357 0 0 5 75605873 75605873 T A SNP SV2C ENST00000502798 human ensembl 70_37 +1 known intronic c.2000+8503 e11+8503 0.171 - - - no_errors SV2C HGNC ENSG00000122012 tier4 1021 0 0 1443 3 0.207325501036628 572 2 0.348432055749129 5 75737396 75737396 T G SNP IQGAP2 ENST00000274364 human ensembl 70_37 +1 known intronic c.47-19999 e2-19999 0.000 - - - no_errors IQGAP2 HGNC ENSG00000145703 tier3 1191 0 0 1782 2 0.112107623318386 434 6 1.36363636363636 5 75981488 75981488 A C SNP IQGAP2 ENST00000274364 human ensembl 70_37 +1 known intronic c.3905+1746 e30+1746 0.000 - - - no_errors IQGAP2 HGNC ENSG00000145703 tier3 849 0 0 1347 3 0.222222222222222 426 1 0.233100233100233 5 77152219 77152219 C T SNP TBCA ENST00000522370 human ensembl 70_37 -1 putative intronic c.1+12239 e0+12239 0.013 - - - no_errors TBCA HGNC ENSG00000171530 tier4 2456 1 0.0406669377795852 1988 1586 44.3636363636364 539 103 15.8950617283951 5 77268206 77268206 A C SNP ENSG00000253572 ENST00000523413 human ensembl 70_37 -1 known 5_prime_flanking_region c.-25958 NULL 1.000 - - - no_errors RP11-107N7.1 Clone_based_vega_gene ENSG00000253572 tier2 944 0 0 1247 2 0.160128102481986 433 0 0 5 78325228 78325228 G A SNP DMGDH ENST00000255189 human ensembl 70_37 -1 known intronic c.1814+499 e11+499 0.000 - - - no_errors DMGDH HGNC ENSG00000132837 tier3 869 0 0 659 557 45.7307060755337 368 98 21.0300429184549 5 79092107 79092107 T G SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known intronic c.11963+2674 e12+2674 0.000 - - - no_errors CMYA5 HGNC ENSG00000164309 tier4 824 0 0 1075 4 0.37037037037037 383 1 0.260416666666667 5 79853240 79853240 T A SNP ANKRD34B ENST00000338682 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*1054 NULL 0.008 - - - no_errors ANKRD34B HGNC ENSG00000189127 tier3 1586 0 0 2240 2 0.0892060660124889 725 0 0 5 79957743 79957743 G T SNP MSH3 ENST00000265081 human ensembl 70_37 +1 known intronic c.359-3219 e3-3219 0.002 - - - no_errors MSH3 HGNC ENSG00000113318 tier3 686 0 0 1000 2 0.199600798403194 393 4 1.00755667506297 5 80088316 80088316 G A SNP MSH3 ENST00000265081 human ensembl 70_37 +1 known intronic c.2544-236 e19-236 0.002 - - - no_errors MSH3 HGNC ENSG00000113318 tier3 1697 0 0 1232 990 44.5544554455446 636 134 17.312661498708 5 80719052 80719052 A C SNP SSBP2 ENST00000320672 human ensembl 70_37 -1 known intronic c.1057-2700 e17-2700 0.000 - - - no_errors SSBP2 HGNC ENSG00000145687 tier4 706 0 0 925 2 0.21551724137931 365 3 0.815217391304348 5 82115380 82115380 A C SNP ENSG00000248105 ENST00000514930 human ensembl 70_37 +1 known 5_prime_flanking_region c.-5323 NULL 0.000 - - - no_coding_region:pseudogene CTD-2218K11.3 Clone_based_vega_gene ENSG00000248105 tier3 539 0 0 733 2 0.272108843537415 286 3 1.03092783505155 5 82421576 82421576 T G SNP XRCC4 ENST00000338635 human ensembl 70_37 +1 known intronic c.315+14554 e2+14554 0.047 - - - no_errors XRCC4 HGNC ENSG00000152422 tier4 1111 0 0 1628 2 0.122699386503067 257 0 0 5 82475822 82475822 T C SNP XRCC4 ENST00000338635 human ensembl 70_37 +1 known intronic c.316-15767 e3-15767 0.196 - - - no_errors XRCC4 HGNC ENSG00000152422 tier3 1751 0 0 1244 897 41.8767507002801 656 95 12.6162018592297 5 83738916 83738916 C A SNP ENSG00000250320 ENST00000509406 human ensembl 70_37 +1 known intronic c.NULL NULL 0.373 - - - no_errors CTD-2269F5.1 Clone_based_vega_gene ENSG00000250320 tier4 1275 0 0 1848 4 0.215866162978953 531 0 0 5 83907900 83907900 G T SNP - - - - - - - - - - - - - - - - - - tier4 1195 0 0 1560 8 0.510204081632653 565 0 0 5 84281219 84281219 G T SNP ENSG00000214853 ENST00000425840 human ensembl 70_37 -1 known 3_prime_flanking_region c.*14519 NULL 0.005 - - - no_coding_region:pseudogene RP11-509M23.1 Clone_based_vega_gene ENSG00000214853 tier3 644 0 0 765 2 0.260756192959583 299 3 0.993377483443709 5 84299513 84299513 A G SNP ENSG00000214853 ENST00000425840 human ensembl 70_37 -1 known 5_prime_flanking_region c.-3400 NULL 0.000 - - - no_coding_region:pseudogene RP11-509M23.1 Clone_based_vega_gene ENSG00000214853 tier3 1309 1 0.07627765064836 957 737 43.4808259587021 452 96 17.5182481751825 5 84404495 84404495 T G SNP ENSG00000249349 ENST00000446516 human ensembl 70_37 -1 known 3_prime_flanking_region c.*3665 NULL 0.000 - - - no_errors CTC-384G19.1 Clone_based_vega_gene ENSG00000249349 tier3 959 0 0 1223 2 0.163265306122449 469 5 1.05042016806723 5 84598011 84598011 T C SNP - - - - - - - - - - - - - - - - - - tier4 1476 0 0 963 969 50.1552795031056 581 146 20.0825309491059 5 84636238 84636238 A T SNP - - - - - - - - - - - - - - - - - - tier3 1419 0 0 1073 627 36.8606701940035 583 0 0 5 84943492 84943492 G A SNP ENSG00000250874 ENST00000507387 human ensembl 70_37 +1 known 5_prime_flanking_region c.-15558 NULL 0.001 - - - no_errors CTC-480C2.1 Clone_based_vega_gene ENSG00000250874 tier4 487 0 0 310 260 45.6140350877193 267 47 14.968152866242 5 85476149 85476149 A C SNP - - - - - - - - - - - - - - - - - - tier3 1137 0 0 1573 2 0.126903553299492 535 4 0.742115027829314 5 85738540 85738540 C A SNP ENSG00000251585 ENST00000502592 human ensembl 70_37 +1 known 3_prime_flanking_region c.*39762 NULL 0.001 - - - no_coding_region:pseudogene CTD-2299E8.1 Clone_based_vega_gene ENSG00000251585 tier4 1024 0 0 1313 4 0.303720577069096 452 1 0.21978021978022 5 86312432 86312432 G A SNP ENSG00000249061 ENST00000503349 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors RP11-72L22.1 Clone_based_vega_gene ENSG00000249061 tier4 1331 0 0 962 688 41.6464891041162 529 100 15.8982511923688 5 86997575 86997575 G T SNP ENSG00000249362 ENST00000504287 human ensembl 70_37 +1 putative 3_prime_flanking_region c.*22611 NULL 0.031 - - - no_errors CTD-2316B1.1 Clone_based_vega_gene ENSG00000249362 tier4 668 2 0.298507462686567 564 292 34.1121495327103 310 0 0 5 87712830 87712830 C A SNP TMEM161B-AS1 ENST00000501715 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors TMEM161B-AS1 HGNC ENSG00000247828 tier4 1096 0 0 1392 5 0.357653791130186 530 0 0 5 88117574 88117574 A G SNP MEF2C ENST00000437473 human ensembl 70_37 -1 known intronic c.54+1978 e1+1978 0.003 - - - no_errors MEF2C HGNC ENSG00000081189 tier4 1031 0 0 1504 3 0.19893899204244 511 0 0 5 88461659 88461659 A T SNP ENSG00000248309 ENST00000512585 human ensembl 70_37 +1 known intronic c.NULL NULL 0.066 - - - no_errors CTC-454M9.1 Clone_based_vega_gene ENSG00000248309 tier3 1301 0 0 1770 4 0.225479143179256 571 2 0.349040139616056 5 88681049 88681049 A G SNP ENSG00000248309 ENST00000514092 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors CTC-454M9.1 Clone_based_vega_gene ENSG00000248309 tier3 1455 0 0 1720 2 0.116076610562972 521 0 0 5 89146787 89146787 T G SNP ENSG00000214942 ENST00000505109 human ensembl 70_37 +1 known 5_prime_flanking_region c.-49694 NULL 0.001 - - - no_errors AC113167.1 Clone_based_vega_gene ENSG00000214942 tier3 1106 0 0 1568 5 0.317863954227591 463 1 0.214592274678112 5 91229778 91229778 G A SNP - - - - - - - - - - - - - - - - - - tier4 828 1 0.120481927710843 744 311 29.4507575757576 436 0 0 5 91961175 91961175 G T SNP ENSG00000249776 ENST00000512210 human ensembl 70_37 -1 known intronic c.NULL NULL 0.334 - - - no_errors RP11-133F8.2 Clone_based_vega_gene ENSG00000249776 tier4 2332 3 0.128259940145361 3231 12 0.369913686806412 595 12 1.97044334975369 5 91976294 91976294 A G SNP ENSG00000249776 ENST00000513779 human ensembl 70_37 -1 known intronic c.NULL NULL 1.000 - - - no_errors RP11-133F8.2 Clone_based_vega_gene ENSG00000249776 tier3 1007 1 0.0991080277502478 691 497 41.8350168350168 370 76 17.0403587443946 5 92063567 92063567 G A SNP ENSG00000249984 ENST00000503489 human ensembl 70_37 -1 known 5_prime_flanking_region c.-39606 NULL 0.000 - - - no_errors CTC-529L17.2 Clone_based_vega_gene ENSG00000249984 tier3 1964 3 0.151975683890578 1413 1061 42.8686868686869 710 110 13.4146341463415 5 92398464 92398464 T G SNP LOC100505822 ENST00000515153 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors CTD-2091N23.1 Clone_based_vega_gene ENSG00000251361 tier3 992 0 0 1293 3 0.231481481481481 439 1 0.226244343891403 5 92542773 92542773 C T SNP - - - - - - - - - - - - - - - - - - tier3 922 0 0 648 429 39.8328690807799 374 74 16.5178571428571 5 93831620 93831620 C G SNP KIAA0825 ENST00000427991 human ensembl 70_37 -1 known intronic c.971-10985 e4-10985 0.000 - - - no_errors KIAA0825 HGNC ENSG00000185261 tier3 1466 0 0 2119 36 1.66821130676552 598 153 20.3187250996016 5 95079808 95079808 T C SNP RHOBTB3 ENST00000379982 human ensembl 70_37 +1 known intronic c.416-4229 e4-4229 0.000 - - - no_errors RHOBTB3 HGNC ENSG00000164292 tier3 746 0 0 1036 2 0.192678227360308 486 0 0 5 96292887 96292887 G T SNP LNPEP ENST00000231368 human ensembl 70_37 +1 known intronic c.19+21009 e1+21009 0.017 - - - no_errors LNPEP HGNC ENSG00000113441 tier4 1018 0 0 1283 4 0.31055900621118 431 1 0.229885057471264 5 96942819 96942819 T C SNP ENSG00000250331 ENST00000504012 human ensembl 70_37 +1 known intronic c.NULL NULL 0.060 - - - no_errors RP11-1E3.1 Clone_based_vega_gene ENSG00000250331 tier4 1058 0 0 1494 3 0.200400801603206 452 2 0.440528634361234 5 99479853 99479853 G A SNP ENSG00000207077 ENST00000384349 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-9523 NULL 0.001 - - - no_errors U6 RFAM ENSG00000207077 tier4 1049 1 0.0951474785918173 1310 5 0.379650721336371 405 79 16.3223140495868 5 99765078 99765078 T G SNP ENSG00000247877 ENST00000499025 human ensembl 70_37 -1 known 3_prime_flanking_region c.*20380 NULL 0.000 - - - no_errors CTD-2001C12.1 Clone_based_vega_gene ENSG00000247877 tier3 862 0 0 1203 2 0.16597510373444 431 1 0.230414746543779 5 100155105 100155105 T C SNP ST8SIA4 ENST00000231461 human ensembl 70_37 -1 known intronic c.798-7272 e5-7272 0.047 - - - no_errors ST8SIA4 HGNC ENSG00000113532 tier3 532 0 0 796 4 0.5 275 2 0.72202166064982 5 100830765 100830765 C A SNP - - - - - - - - - - - - - - - - - - tier3 1152 0 0 1478 1 0.0676132521974307 541 4 0.73394495412844 5 100870436 100870436 C G SNP ENSG00000264318 ENST00000577858 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-47098 NULL 0.015 - - - no_errors Metazoa_SRP RFAM ENSG00000264318 tier4 741 0 0 949 2 0.210304942166141 381 0 0 5 101746762 101746762 G T SNP SLCO6A1 ENST00000379807 human ensembl 70_37 -1 known intronic c.1626+1932 e9+1932 0.000 - - - no_errors SLCO6A1 HGNC ENSG00000205359 tier3 1078 0 0 1395 1 0.0716332378223496 389 4 1.0126582278481 5 101781393 101781393 T A SNP SLCO6A1 ENST00000379807 human ensembl 70_37 -1 known intronic c.1132-6928 e7-6928 0.222 - - - no_errors SLCO6A1 HGNC ENSG00000205359 tier4 736 1 0.135685210312076 841 104 11.005291005291 332 0 0 5 101996473 101996473 G A SNP LINC00491 ENST00000505527 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors LINC00491 HGNC ENSG00000250682 tier4 1381 0 0 2006 2 0.099502487562189 581 0 0 5 105626275 105626275 T G SNP - - - - - - - - - - - - - - - - - - tier3 1018 0 0 1323 2 0.150943396226415 401 1 0.247524752475248 5 107655195 107655195 C A SNP FBXL17 ENST00000542267 human ensembl 70_37 -1 known intronic c.1506+28905 e4+28905 0.000 - - - no_errors FBXL17 HGNC ENSG00000145743 tier3 1307 0 0 1774 2 0.112612612612613 607 0 0 5 108927246 108927246 T G SNP KRT18P42 ENST00000505048 human ensembl 70_37 +1 known 3_prime_flanking_region c.*1953 NULL 0.000 - - - no_coding_region:pseudogene KRT18P42 HGNC ENSG00000214794 tier4 964 0 0 1495 7 0.465116279069767 422 2 0.471698113207547 5 110404501 110404501 G T SNP WDR36 ENST00000506538 human ensembl 70_37 +1 known 5_prime_flanking_region c.-23486 NULL 0.000 - - - no_errors WDR36 HGNC ENSG00000134987 tier3 1243 0 0 1787 2 0.111731843575419 633 0 0 5 111309245 111309245 A C SNP NREP ENST00000395634 human ensembl 70_37 -1 known intronic c.135+1726 e2+1726 0.000 - - - no_errors NREP HGNC ENSG00000134986 tier3 757 0 0 1059 4 0.376293508936971 313 2 0.634920634920635 5 111568622 111568622 C A SNP EPB41L4A ENST00000261486 human ensembl 70_37 -1 known intronic c.1087+1709 e12+1709 0.000 - - - no_errors EPB41L4A HGNC ENSG00000129595 tier3 801 0 0 1074 1 0.0928505106778087 333 2 0.597014925373134 5 111928660 111928660 T C SNP ENSG00000250358 ENST00000507565 human ensembl 70_37 +1 known 5_prime_flanking_region c.-35637 NULL 0.000 - - - no_errors RP11-159K7.2 Clone_based_vega_gene ENSG00000250358 tier3 947 1 0.105485232067511 688 493 41.7442845046571 377 73 16.1504424778761 5 112272916 112272916 A C SNP DCP2 ENST00000389063 human ensembl 70_37 +1 known 5_prime_flanking_region c.-39715 NULL 0.108 - - - no_errors DCP2 HGNC ENSG00000172795 tier4 285 0 0 468 2 0.424628450106157 180 4 2.16216216216216 5 112554023 112554023 T G SNP MCC ENST00000302475 human ensembl 70_37 -1 known intronic c.58-66904 e2-66904 0.058 - - - no_errors MCC HGNC ENSG00000171444 tier3 833 0 0 1136 5 0.438212094653812 314 5 1.56739811912226 5 113487082 113487082 T C SNP - - - - - - - - - - - - - - - - - - tier4 715 0 0 1000 2 0.199401794616152 333 0 0 5 114038189 114038189 C A SNP ENSG00000246316 ENST00000506265 human ensembl 70_37 -1 known 5_prime_flanking_region c.-34086 NULL 0.000 - - - no_errors RP11-492A10.1 Clone_based_vega_gene ENSG00000246316 tier3 1549 1 0.0645161290322581 919 976 51.5039577836412 639 132 17.1206225680934 5 115609034 115609034 A C SNP COMMD10 ENST00000274458 human ensembl 70_37 +1 known intronic c.511-18180 e6-18180 0.022 - - - no_errors COMMD10 HGNC ENSG00000145781 tier3 819 0 0 1135 2 0.175901495162709 394 5 1.2531328320802 5 115642848 115642848 A C SNP COMMD10 ENST00000503424 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors COMMD10 HGNC ENSG00000145781 tier3 457 0 0 569 1 0.175438596491228 249 3 1.19047619047619 5 115669842 115669842 A C SNP COMMD10 ENST00000503424 human ensembl 70_37 +1 known intronic c.NULL NULL 0.374 - - - no_errors COMMD10 HGNC ENSG00000145781 tier4 490 0 0 662 2 0.301204819277108 327 0 0 5 117910808 117910808 C A SNP ENSG00000249128 ENST00000503320 human ensembl 70_37 +1 known 5_prime_flanking_region c.-21075 NULL 0.000 - - - no_errors RP11-2N5.1 Clone_based_vega_gene ENSG00000249128 tier3 1068 0 0 1275 4 0.3125 477 0 0 5 119406406 119406406 A C SNP - - - - - - - - - - - - - - - - - - tier4 1131 0 0 1613 3 0.185528756957328 490 0 0 5 120076808 120076808 A G SNP ENSG00000248927 ENST00000511422 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40105 NULL 0.001 - - - no_errors CTD-2334D19.1 Clone_based_vega_gene ENSG00000248927 tier4 809 0 0 493 437 46.989247311828 291 74 20.2739726027397 5 120428681 120428681 A C SNP ENSG00000251135 ENST00000509046 human ensembl 70_37 +1 known 3_prime_flanking_region c.*48954 NULL 0.001 - - - no_coding_region:pseudogene AC008565.1 Clone_based_vega_gene ENSG00000251135 tier4 482 0 0 655 2 0.303951367781155 240 1 0.4149377593361 5 122185286 122185286 C A SNP SNX24 ENST00000261369 human ensembl 70_37 +1 known intronic c.60+3898 e1+3898 0.000 - - - no_errors SNX24 HGNC ENSG00000064652 tier3 969 0 0 1425 1 0.0701262272089762 514 7 1.34357005758157 5 123158229 123158229 G T SNP - - - - - - - - - - - - - - - - - - tier4 555 0 0 705 3 0.423131170662906 311 4 1.26984126984127 5 123264242 123264242 C G SNP - - - - - - - - - - - - - - - - - - tier4 777 0 0 639 280 30.4017372421281 339 0 0 5 123446597 123446597 T G SNP - - - - - - - - - - - - - - - - - - tier3 847 0 0 1054 2 0.189214758751183 413 0 0 5 124033696 124033696 T G SNP ZNF608 ENST00000306315 human ensembl 70_37 -1 known intronic c.1162+3011 e2+3011 0.024 - - - no_errors ZNF608 HGNC ENSG00000168916 tier3 1505 0 0 2194 2 0.0910332271279017 597 1 0.167224080267559 5 125201048 125201048 C T SNP ENSG00000249950 ENST00000511727 human ensembl 70_37 -1 known 5_prime_flanking_region c.-2162 NULL 0.000 - - - no_coding_region:pseudogene CTC-394G3.1 Clone_based_vega_gene ENSG00000249950 tier4 1850 3 0.161725067385445 1361 1161 46.0348929421094 705 162 18.6421173762946 5 125668627 125668627 A C SNP GRAMD3 ENST00000513040 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-27397 NULL 0.000 - - - no_errors GRAMD3 HGNC ENSG00000155324 tier3 594 0 0 814 3 0.367197062423501 316 1 0.315457413249211 5 126696014 126696014 C T SNP MEGF10 ENST00000274473 human ensembl 70_37 +1 known intronic c.320-9588 e4-9588 0.034 - - - no_errors MEGF10 HGNC ENSG00000145794 tier4 1509 0 0 1271 549 30.1648351648352 689 0 0 5 128394267 128394267 C A SNP ISOC1 ENST00000173527 human ensembl 70_37 +1 known 5_prime_flanking_region c.-36193 NULL 0.052 - - - no_errors ISOC1 HGNC ENSG00000066583 tier4 545 0 0 744 3 0.401606425702811 283 1 0.350877192982456 5 128997345 128997345 C T SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known intronic c.2407+2915 e15+2915 0.000 - - - no_errors ADAMTS19 HGNC ENSG00000145808 tier3 1156 0 0 1473 2 0.13550135501355 558 0 0 5 130663062 130663062 C A SNP CDC42SE2 ENST00000360515 human ensembl 70_37 +1 known intronic c.1+11225 e0+11225 0.001 - - - no_errors CDC42SE2 HGNC ENSG00000158985 tier3 1092 0 0 1751 2 0.114090131203651 656 0 0 5 132396675 132396675 C A SNP HSPA4 ENST00000304858 human ensembl 70_37 +1 known intronic c.108-3997 e2-3997 0.012 - - - no_errors HSPA4 HGNC ENSG00000170606 tier4 1195 0 0 1595 2 0.125156445556946 527 0 0 5 134104441 134104441 T G SNP DDX46 ENST00000452510 human ensembl 70_37 +1 known intronic c.350+1691 e3+1691 0.025 - - - no_errors DDX46 HGNC ENSG00000145833 tier4 1555 0 0 2710 5 0.184162062615101 576 1 0.172711571675302 5 134460629 134460629 C T SNP ENSG00000250513 ENST00000505828 human ensembl 70_37 +1 known intronic c.NULL NULL 0.243 - - - no_errors CTC-349C3.1 Clone_based_vega_gene ENSG00000250513 tier3 364 1 0.273972602739726 246 204 45.3333333333333 110 26 18.5714285714286 5 134513722 134513722 A C SNP ENSG00000250513 ENST00000505828 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors CTC-349C3.1 Clone_based_vega_gene ENSG00000250513 tier3 284 0 0 422 3 0.705882352941176 200 0 0 5 134627472 134627472 C T SNP LOC100996485 ENST00000432382 human ensembl 70_37 +1 putative intronic c.1-41976 e1-41976 0.397 - - - no_errors CTC-203F4.1 Clone_based_vega_gene ENSG00000224186 tier4 859 0 0 1121 37 3.19240724762727 398 0 0 5 135198358 135198358 C T SNP SLC25A48 ENST00000420621 human ensembl 70_37 +1 known intronic c.422-8792 e5-8792 0.000 - - - no_errors SLC25A48 HGNC ENSG00000145832 tier4 1164 2 0.171379605826907 785 706 47.3507712944333 434 113 20.6581352833638 5 137143149 137143149 G A SNP NPY6R ENST00000510937 human ensembl 70_37 +1 known intronic c.NULL NULL 0.012 - - - no_errors NPY6R HGNC ENSG00000226306 tier4 1136 2 0.175746924428822 1145 504 30.5454545454545 536 2 0.371747211895911 5 138764119 138764119 A G SNP DNAJC18 ENST00000302060 human ensembl 70_37 -1 known intronic c.373+108 e3+108 0.001 - - - no_errors DNAJC18 HGNC ENSG00000170464 tier3 1313 0 0 2142 2 0.0932400932400932 592 4 0.671140939597315 5 139158949 139158949 T G SNP PSD2 ENST00000274710 human ensembl 70_37 +1 known 5_prime_flanking_region c.-30077 NULL 0.001 - - - no_errors PSD2 HGNC ENSG00000146005 tier4 717 0 0 1181 3 0.253378378378378 358 0 0 5 143865399 143865399 T G SNP ENSG00000213488 ENST00000511084 human ensembl 70_37 +1 known 5_prime_flanking_region c.-36304 NULL 0.015 - - - no_coding_region:pseudogene CTB-85P21.1 Clone_based_vega_gene ENSG00000213488 tier3 1498 0 0 1952 2 0.10230179028133 714 0 0 5 146002775 146002775 G A SNP PPP2R2B ENST00000394414 human ensembl 70_37 -1 known intronic c.988+15039 e7+15039 0.000 - - - no_errors PPP2R2B HGNC ENSG00000156475 tier3 1394 1 0.0716845878136201 1852 2 0.107758620689655 569 35 5.79470198675497 5 146170759 146170759 A G SNP PPP2R2B ENST00000394414 human ensembl 70_37 -1 known intronic c.268+86806 e2+86806 0.002 - - - no_errors PPP2R2B HGNC ENSG00000156475 tier3 1398 0 0 1853 1 0.0539374325782093 613 4 0.648298217179903 5 146197917 146197917 G A SNP PPP2R2B ENST00000394414 human ensembl 70_37 -1 known intronic c.268+59648 e2+59648 0.000 - - - no_errors PPP2R2B HGNC ENSG00000156475 tier3 982 0 0 1225 6 0.485436893203883 488 2 0.407331975560081 5 146420283 146420283 A T SNP PPP2R2B ENST00000508267 human ensembl 70_37 -1 putative 5_prime_untranslated_region c.-5542 NULL 0.350 - - - no_stop_codon:bad_bp_length_for_coding_region PPP2R2B HGNC ENSG00000156475 tier2 1070 0 0 728 575 44.1289332310054 465 101 17.8445229681979 5 146438143 146438143 A C SNP PPP2R2B ENST00000394409 human ensembl 70_37 -1 known intronic c.50+22479 e1+22479 0.289 - - - no_errors PPP2R2B HGNC ENSG00000156475 tier3 739 0 0 961 2 0.207684319833853 374 2 0.531914893617021 5 147843141 147843141 G A SNP HTR4 ENST00000354217 human ensembl 70_37 -1 known intronic c.1077-12306 e6-12306 0.001 - - - no_errors HTR4 HGNC ENSG00000164270 tier4 1011 0 0 1171 134 10.2681992337165 521 0 0 5 147866039 147866039 G A SNP HTR4 ENST00000360693 human ensembl 70_37 -1 known intronic c.1077-2097 e6-2097 0.001 - - - no_errors HTR4 HGNC ENSG00000164270 tier4 1072 0 0 808 560 40.9057706355004 368 97 20.7708779443255 5 148575665 148575665 T G SNP ABLIM3 ENST00000309868 human ensembl 70_37 +1 known intronic c.152-2117 e3-2117 0.000 - - - no_errors ABLIM3 HGNC ENSG00000173210 tier4 463 0 0 632 2 0.315457413249211 221 0 0 5 149491265 149491265 T C SNP CSF1R ENST00000286301 human ensembl 70_37 -1 known intronic c.1+1559 e0+1559 0.000 - - - no_errors CSF1R HGNC ENSG00000182578 tier4 672 0 0 1008 2 0.198019801980198 296 1 0.335570469798658 5 149862352 149862352 A C SNP ENSG00000254333 ENST00000519040 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors CTC-367J11.1 Clone_based_vega_gene ENSG00000254333 tier3 409 0 0 658 2 0.303030303030303 249 3 1.19047619047619 5 150189020 150189020 T G SNP IRGM ENST00000522154 human ensembl 70_37 +1 known 5_prime_flanking_region c.-38666 NULL 0.045 - - - no_errors IRGM HGNC ENSG00000237693 tier4 955 0 0 1405 3 0.21291696238467 482 1 0.20703933747412 5 151391117 151391117 G A SNP ENSG00000254226 ENST00000524034 human ensembl 70_37 +1 known intronic c.NULL NULL 0.131 - - - no_errors CTB-12O2.1 Clone_based_vega_gene ENSG00000254226 tier4 1530 0 0 1001 814 44.7744774477448 619 136 17.9656538969617 5 151594218 151594218 A C SNP ENSG00000254226 ENST00000518431 human ensembl 70_37 +1 known intronic c.NULL NULL 0.750 - - - no_errors CTB-12O2.1 Clone_based_vega_gene ENSG00000254226 tier3 996 0 0 1282 2 0.155400155400155 401 2 0.496277915632754 5 151667476 151667476 G C SNP ENSG00000254226 ENST00000518431 human ensembl 70_37 +1 known 3_prime_flanking_region c.*17470 NULL 0.001 - - - no_errors CTB-12O2.1 Clone_based_vega_gene ENSG00000254226 tier3 1389 0 0 960 704 42.2315536892621 524 103 16.3751987281399 5 154675251 154675251 C T SNP - - - - - - - - - - - - - - - - - - tier4 1630 2 0.122549019607843 1369 618 31.1021640664318 763 0 0 5 155788742 155788742 A T SNP SGCD ENST00000337851 human ensembl 70_37 +1 known intronic c.192+17055 e2+17055 0.089 - - - no_errors SGCD HGNC ENSG00000170624 tier3 1350 0 0 933 806 46.3484761357102 428 155 26.5866209262436 5 156252843 156252843 G T SNP PPP1R2P3 ENST00000420481 human ensembl 70_37 +1 known 5_prime_flanking_region c.-24706 NULL 0.004 - - - no_coding_region:pseudogene PPP1R2P3 HGNC ENSG00000231989 tier3 1100 0 0 1555 3 0.192554557124519 557 0 0 5 157928537 157928537 G C SNP ENSG00000254135 ENST00000519609 human ensembl 70_37 +1 known intronic c.NULL NULL 0.005 - - - no_errors RP11-32D16.1 Clone_based_vega_gene ENSG00000254135 tier4 1059 1 0.0943396226415094 685 676 49.632892804699 343 77 18.3333333333333 5 158523516 158523516 C T SNP EBF1 ENST00000522192 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-158523516 NULL 0.000 - - - no_coding_region EBF1 HGNC ENSG00000164330 tier3 864 0 0 602 571 48.6786018755328 335 93 21.7289719626168 5 158932570 158932570 A C SNP LOC285627 ENST00000518418 human ensembl 70_37 -1 known 5_prime_flanking_region c.-39286 NULL 0.001 - - - no_errors AC008703.1 Clone_based_vega_gene ENSG00000253298 tier3 733 0 0 1021 1 0.0978473581213307 321 4 1.23076923076923 5 163725821 163725821 G A SNP ENSG00000241956 ENST00000517508 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors CTC-340A15.2 Clone_based_vega_gene ENSG00000241956 tier3 1731 2 0.115340253748558 1247 972 43.8035150968905 638 106 14.1711229946524 5 164860951 164860951 C T SNP ENSG00000253693 ENST00000522189 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.000 - - - no_errors CTC-535M15.2 Clone_based_vega_gene ENSG00000253693 tier4 1293 0 0 1691 2 0.118133490844654 592 1 0.166389351081531 5 165136981 165136981 T C SNP ENSG00000253693 ENST00000522189 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.000 - - - no_errors CTC-535M15.2 Clone_based_vega_gene ENSG00000253693 tier3 1917 0 0 1696 777 31.4066289409863 723 0 0 5 165754002 165754002 A C SNP - - - - - - - - - - - - - - - - - - tier3 874 0 0 1204 3 0.248344370860927 371 0 0 5 166049916 166049916 C T SNP - - - - - - - - - - - - - - - - - - tier4 1662 0 0 1387 658 32.1760391198044 723 0 0 5 166433402 166433402 G A SNP - - - - - - - - - - - - - - - - - - tier3 1270 1 0.0785545954438335 853 634 42.6075268817204 500 76 13.1944444444444 5 167041415 167041415 G A SNP TENM2 ENST00000518659 human ensembl 70_37 +1 known intronic c.502+238937 e2+238937 0.001 - - - no_errors TENM2 HGNC ENSG00000145934 tier3 1191 0 0 748 601 44.4855662472243 443 100 18.4162062615101 5 168675697 168675697 T G SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known intronic c.269+2695 e2+2695 0.080 - - - no_errors SLIT3 HGNC ENSG00000184347 tier3 1135 0 0 1593 3 0.187852222917971 516 1 0.193423597678917 5 169433204 169433204 A C SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known intronic c.3073-2297 e31-2297 0.003 - - - no_errors DOCK2 HGNC ENSG00000134516 tier3 610 0 0 818 3 0.364520048602673 263 0 0 5 169584634 169584634 G A SNP ENSG00000253219 ENST00000518924 human ensembl 70_37 -1 known 5_prime_flanking_region c.-15690 NULL 0.001 - - - no_coding_region:pseudogene CTB-27N1.2 Clone_based_vega_gene ENSG00000253219 tier4 559 0 0 401 303 42.9787234042553 227 33 12.6923076923077 5 172509588 172509588 G A SNP CREBRF ENST00000540014 human ensembl 70_37 +1 known intronic c.9+1801 e1+1801 0.003 - - - no_errors CREBRF HGNC ENSG00000164463 tier3 866 0 0 1305 4 0.305576776165011 442 2 0.45045045045045 5 172510739 172510739 G T SNP CREBRF ENST00000540014 human ensembl 70_37 +1 known intronic c.10-2765 e2-2765 0.046 - - - no_errors CREBRF HGNC ENSG00000164463 tier3 1155 0 0 1745 1 0.05720823798627 643 4 0.618238021638331 5 173702670 173702670 T G SNP HMP19 ENST00000521585 human ensembl 70_37 +1 putative 3_prime_flanking_region c.*70381 NULL 0.000 - - - no_errors NSG2 Uniprot_genename ENSG00000170091 tier4 514 0 0 674 2 0.29585798816568 254 0 0 5 173923709 173923709 C G SNP ENSG00000249306 ENST00000507361 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-267A15.1 Clone_based_vega_gene ENSG00000249306 tier3 754 0 0 1008 2 0.198019801980198 400 2 0.495049504950495 5 174532146 174532146 T C SNP - - - - - - - - - - - - - - - - - - tier3 1089 0 0 1396 5 0.356887937187723 502 1 0.198807157057654 5 174766300 174766300 A C SNP ARL2BPP6 ENST00000512757 human ensembl 70_37 +1 known 3_prime_flanking_region c.*48045 NULL 0.050 - - - no_coding_region:pseudogene ARL2BPP6 HGNC ENSG00000248355 tier4 563 0 0 819 4 0.486026731470231 270 3 1.0989010989011 5 174846564 174846564 C T SNP DRD1 ENST00000329144 human ensembl 70_37 -1 known 3_prime_flanking_region c.*22198 NULL 0.000 - - - no_errors DRD1 HGNC ENSG00000184845 tier3 430 2 0.462962962962963 266 242 47.6377952755905 170 64 27.3504273504274 5 175009616 175009616 A T SNP ENSG00000222111 ENST00000410179 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-45575 NULL 0.020 - - - no_errors 7SK RFAM ENSG00000222111 tier4 719 0 0 899 4 0.44296788482835 354 1 0.28169014084507 5 175477557 175477557 T G SNP ENSG00000248469 ENST00000512675 human ensembl 70_37 -1 putative 3_prime_untranslated_region c.*49 NULL 0.307 - - - no_errors RP11-826N14.2 Clone_based_vega_gene ENSG00000248469 tier3 619 0 0 982 3 0.304568527918782 320 1 0.311526479750779 5 176655728 176655728 G A SNP NSD1 ENST00000439151 human ensembl 70_37 +1 known intronic c.3797-7094 e5-7094 0.017 - - - no_errors NSD1 HGNC ENSG00000165671 tier3 1076 0 0 927 735 44.2238267148014 560 94 14.3292682926829 5 176838403 176838403 T G SNP GRK6 ENST00000506296 human ensembl 70_37 +1 putative intronic c.1+6845 e0+6845 0.037 - - - no_stop_codon GRK6 HGNC ENSG00000198055 tier4 499 0 0 874 2 0.228050171037628 312 3 0.952380952380952 5 177789701 177789701 G A SNP COL23A1 ENST00000390654 human ensembl 70_37 -1 known intronic c.362-55781 e3-55781 0.014 - - - no_errors COL23A1 HGNC ENSG00000050767 tier4 636 1 0.156739811912226 474 329 40.9713574097136 281 58 17.0087976539589 5 177986149 177986149 C T SNP COL23A1 ENST00000390654 human ensembl 70_37 -1 known intronic c.361+1534 e2+1534 0.009 - - - no_errors COL23A1 HGNC ENSG00000050767 tier3 512 0 0 547 46 7.75716694772344 284 0 0 5 179442679 179442679 G A SNP RNF130 ENST00000521389 human ensembl 70_37 -1 known intronic c.443-2368 e3-2368 0.000 - - - no_errors RNF130 HGNC ENSG00000113269 tier4 144 0 0 216 3 1.36986301369863 20 0 0 5 180491449 180491449 A C SNP ENSG00000241870 ENST00000468453 human ensembl 70_37 +1 known 5_prime_flanking_region c.-637 NULL 0.048 - - - no_coding_region:pseudogene CTB-14A14.1 Clone_based_vega_gene ENSG00000241870 tier4 494 0 0 768 2 0.25974025974026 286 1 0.346020761245675 6 355289 355289 T G SNP IRF4 ENST00000380956 human ensembl 70_37 +1 known 5_prime_flanking_region c.-37864 NULL 0.001 - - - no_errors IRF4 HGNC ENSG00000137265 tier3 1554 0 0 2056 2 0.0971345313258863 969 0 0 6 931809 931809 T C SNP ENSG00000260982 ENST00000569502 human ensembl 70_37 -1 known 5_prime_flanking_region c.-22215 NULL 0.442 - - - no_errors RP5-1077H22.2 Clone_based_vega_gene ENSG00000260982 tier3 985 0 0 1267 2 0.157604412923562 425 1 0.234741784037559 6 3480409 3480409 T C SNP SLC22A23 ENST00000406686 human ensembl 70_37 -1 known 5_prime_flanking_region c.-23616 NULL 0.011 - - - no_errors SLC22A23 HGNC ENSG00000137266 tier4 729 0 0 944 2 0.211193241816262 334 1 0.298507462686567 6 3622839 3622839 C A SNP ENSG00000228793 ENST00000443445 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP1-223B1.1 Clone_based_vega_gene ENSG00000228793 tier3 600 0 0 818 2 0.24390243902439 322 0 0 6 4298005 4298005 G A SNP ENSG00000231811 ENST00000437430 human ensembl 70_37 -1 known 3_prime_flanking_region c.*47972 NULL 0.008 - - - no_errors RP3-527G5.1 Clone_based_vega_gene ENSG00000231811 tier4 199 0 0 126 118 48.3606557377049 88 11 11.1111111111111 6 5677877 5677877 C A SNP FARS2 ENST00000274680 human ensembl 70_37 +1 known intronic c.1217+64324 e5+64324 0.007 - - - no_errors FARS2 HGNC ENSG00000145982 tier3 1131 0 0 1469 3 0.203389830508475 546 2 0.363636363636364 6 7630338 7630338 A C SNP DSP ENST00000379802 human ensembl 70_37 +1 known 3_prime_flanking_region c.*44227 NULL 0.000 - - - no_errors DSP HGNC ENSG00000096696 tier4 645 0 0 944 2 0.211416490486258 308 0 0 6 9548972 9548972 T C SNP OFCC1 ENST00000469421 human ensembl 70_37 -1 known 3_prime_flanking_region c.*47371 NULL 0.000 - - - no_errors OFCC1 HGNC ENSG00000181355 tier3 889 0 0 1202 2 0.166112956810631 369 1 0.268817204301075 6 10267104 10267104 T G SNP ENSG00000221583 ENST00000408656 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*44710 NULL 0.000 - - - no_errors U6atac RFAM ENSG00000221583 tier3 595 0 0 770 4 0.516795865633075 307 0 0 6 10930013 10930013 C A SNP SYCP2L ENST00000283141 human ensembl 70_37 +1 known intronic c.1489-590 e19-590 0.016 - - - no_errors SYCP2L HGNC ENSG00000153157 tier4 68 0 0 116 2 1.69491525423729 14 0 0 6 11832555 11832555 A C SNP ADTRP ENST00000379415 human ensembl 70_37 -1 known 5_prime_flanking_region c.-53563 NULL 0.003 - - - no_stop_codon:bad_bp_length_for_coding_region ADTRP HGNC ENSG00000111863 tier3 1069 0 0 1422 5 0.350385423966363 536 2 0.371747211895911 6 12031689 12031689 T G SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known intronic c.40+15788 e1+15788 0.000 - - - no_errors HIVEP1 HGNC ENSG00000095951 tier3 720 1 0.13869625520111 515 485 48.4031936127745 284 71 20 6 12306425 12306425 G A SNP ENSG00000218893 ENST00000405924 human ensembl 70_37 +1 known 5_prime_flanking_region c.-13260 NULL 0.001 - - - no_coding_region:pseudogene RP3-451B15.3 Clone_based_vega_gene ENSG00000218893 tier4 1043 0 0 1296 133 9.3006993006993 557 2 0.35778175313059 6 12650590 12650590 T C SNP - - - - - - - - - - - - - - - - - - tier4 1208 0 0 1702 2 0.117370892018779 481 0 0 6 12817297 12817297 A G SNP PHACTR1 ENST00000432934 human ensembl 70_37 +1 known intronic c.250+67275 e2+67275 0.015 - - - no_errors PHACTR1 HGNC ENSG00000112137 tier3 877 0 0 1118 2 0.178412132024978 445 2 0.447427293064877 6 13352615 13352615 C T SNP TBC1D7 ENST00000356436 human ensembl 70_37 -1 known 5_prime_flanking_region c.-25485 NULL 0.060 - - - no_errors TBC1D7 HGNC ENSG00000145979 tier4 138 0 0 190 2 1.04166666666667 108 0 0 6 13423119 13423119 T G SNP GFOD1 ENST00000379287 human ensembl 70_37 -1 known intronic c.254-57225 e2-57225 0.000 - - - no_errors GFOD1 HGNC ENSG00000145990 tier3 1533 0 0 2259 5 0.220848056537102 636 0 0 6 14150919 14150919 C T SNP ENSG00000238987 ENST00000459188 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-5774 NULL 0.000 - - - no_errors U7 RFAM ENSG00000238987 tier3 1147 0 0 830 717 46.3178294573643 451 125 21.7013888888889 6 15290369 15290369 T C SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known intronic c.45+43554 e1+43554 0.000 - - - no_errors JARID2 HGNC ENSG00000008083 tier4 869 0 0 1434 6 0.416377515614157 390 2 0.510204081632653 6 16752247 16752247 A C SNP ATXN1 ENST00000244769 human ensembl 70_37 -1 known intronic c.1+1217 e0+1217 0.000 - - - no_errors ATXN1 HGNC ENSG00000124788 tier4 1081 0 0 1656 2 0.120627261761158 506 0 0 6 16976130 16976130 G T SNP - - - - - - - - - - - - - - - - - - tier3 656 0 0 1058 2 0.188679245283019 341 4 1.15942028985507 6 17264677 17264677 T G SNP RBM24 ENST00000379052 human ensembl 70_37 +1 known 5_prime_flanking_region c.-17136 NULL 0.000 - - - no_errors RBM24 HGNC ENSG00000112183 tier3 915 0 0 1366 2 0.146198830409357 425 0 0 6 17298676 17298676 G A SNP RBM24 ENST00000379052 human ensembl 70_37 +1 known 3_prime_flanking_region c.*6326 NULL 0.000 - - - no_errors RBM24 HGNC ENSG00000112183 tier3 1261 1 0.0791765637371338 1043 822 44.0514469453376 453 108 19.2513368983957 6 19167153 19167153 T G SNP ENSG00000217379 ENST00000402485 human ensembl 70_37 +1 known 3_prime_flanking_region c.*22762 NULL 0.002 - - - no_coding_region:pseudogene RP11-254A17.1 Clone_based_vega_gene ENSG00000217379 tier3 603 0 0 782 2 0.254777070063694 309 0 0 6 19438244 19438244 A G SNP RNA5SP205 ENST00000364653 human ensembl 70_37 +1 known 5_prime_flanking_region c.-270 NULL 0.000 - - - no_errors RNA5SP205 HGNC ENSG00000201523 tier3 1013 0 0 1370 2 0.145772594752187 385 2 0.516795865633075 6 20204929 20204929 T G SNP MBOAT1 ENST00000324607 human ensembl 70_37 -1 known intronic c.99+7438 e1+7438 0.004 - - - no_errors MBOAT1 HGNC ENSG00000172197 tier3 929 0 0 1419 2 0.140745953553835 411 0 0 6 20225279 20225279 C T SNP ENSG00000227803 ENST00000449143 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.021 - - - no_errors RP11-239H6.2 Clone_based_vega_gene ENSG00000227803 tier4 1747 0 0 2652 3 0.112951807228916 710 2 0.273972602739726 6 20598307 20598307 C G SNP CDKAL1 ENST00000274695 human ensembl 70_37 +1 known intronic c.286+49371 e2+49371 0.000 - - - no_errors CDKAL1 HGNC ENSG00000145996 tier3 788 0 0 1115 2 0.178890876565295 548 0 0 6 20793836 20793836 A G SNP CDKAL1 ENST00000274695 human ensembl 70_37 +1 known intronic c.638+12340 e6+12340 0.001 - - - no_errors CDKAL1 HGNC ENSG00000145996 tier4 500 0 0 383 339 46.9529085872576 273 42 13.3333333333333 6 21346594 21346594 T A SNP ENSG00000227089 ENST00000426374 human ensembl 70_37 +1 known 5_prime_flanking_region c.-8048 NULL 0.020 - - - no_errors RP1-135L22.1 Clone_based_vega_gene ENSG00000227089 tier3 775 0 0 1112 9 0.8028545941124 402 2 0.495049504950495 6 22867594 22867594 A C SNP - - - - - - - - - - - - - - - - - - tier4 942 0 0 1238 2 0.161290322580645 514 4 0.772200772200772 6 23311325 23311325 A G SNP ENSG00000235743 ENST00000431001 human ensembl 70_37 +1 known 5_prime_flanking_region c.-26614 NULL 0.002 - - - no_errors RP11-439H9.1 Clone_based_vega_gene ENSG00000235743 tier3 992 0 0 1144 4 0.348432055749129 417 1 0.239234449760766 6 23796204 23796204 C T SNP - - - - - - - - - - - - - - - - - - tier3 773 1 0.129198966408269 977 78 7.39336492890995 338 0 0 6 23915175 23915175 C T SNP - - - - - - - - - - - - - - - - - - tier3 1467 0 0 995 904 47.5539189900053 522 111 17.4803149606299 6 24346979 24346979 C A SNP DCDC2 ENST00000378454 human ensembl 70_37 -1 known intronic c.348+6818 e2+6818 0.013 - - - no_errors DCDC2 HGNC ENSG00000146038 tier4 1551 1 0.0643500643500643 2323 4 0.171895143962183 445 7 1.54185022026432 6 24723721 24723721 T G SNP C6orf62 ENST00000378119 human ensembl 70_37 -1 known 5_prime_flanking_region c.-4825 NULL 0.005 - - - no_errors C6orf62 HGNC ENSG00000112308 tier4 2737 0 0 4134 2 0.0483208504469679 656 0 0 6 25450772 25450772 A C SNP LRRC16A ENST00000377969 human ensembl 70_37 +1 known intronic c.58-94 e2-94 0.000 - - - no_errors LRRC16A HGNC ENSG00000079691 tier2 567 0 0 715 1 0.139664804469274 262 3 1.13207547169811 6 25553604 25553604 T G SNP LRRC16A ENST00000329474 human ensembl 70_37 +1 novel intronic c.2505-633 e28-633 0.000 - - - no_errors LRRC16A HGNC ENSG00000079691 tier3 513 0 0 746 2 0.267379679144385 227 4 1.73160173160173 6 25831434 25831434 A G SNP SLC17A1 ENST00000244527 human ensembl 70_37 -1 known intronic c.1-599 e1-599 0.002 - - - no_errors SLC17A1 HGNC ENSG00000124568 tier3 524 0 0 724 1 0.137741046831956 244 2 0.809716599190283 6 26392936 26392936 C T SNP BTN2A2 ENST00000356709 human ensembl 70_37 +1 known missense c.1313 p.P438L 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A2 HGNC ENSG00000124508 tier1 1175 0 0 1228 151 10.9499637418419 842 0 0 6 26392936 26392936 C T SNP BTN2A2 ENST00000356709 human ensembl 70_37 +1 known missense c.1313 p.P438L 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTN2A2 HGNC ENSG00000124508 tier1 783 0 0 913 112 10.9268292682927 455 0 0 6 26557836 26557836 A C SNP ABT1 ENST00000274849 human ensembl 70_37 +1 known 5_prime_flanking_region c.-39375 NULL 0.000 - - - no_errors ABT1 HGNC ENSG00000146109 tier4 1625 0 0 1031 1004 49.2881688757977 514 139 21.2863705972435 6 27026257 27026257 A T SNP VN1R12P ENST00000403778 human ensembl 70_37 -1 known 5_prime_flanking_region c.-24168 NULL 0.005 - - - no_coding_region:pseudogene VN1R12P HGNC ENSG00000220581 tier3 1123 0 0 825 611 42.4895688456189 401 105 20.7509881422925 6 27157673 27157673 G C SNP HIST1H2BK ENST00000356950 human ensembl 70_37 -1 known 5_prime_flanking_region c.-43096 NULL 0.015 - - - no_errors HIST1H2BK HGNC ENSG00000197903 tier4 1044 0 0 1471 1 0.0678886625933469 461 2 0.43010752688172 6 27267300 27267300 G A SNP POM121L2 ENST00000429945 human ensembl 70_37 -1 putative intronic c.216+11576 e1+11576 0.035 - - - no_start_codon POM121L2 HGNC ENSG00000158553 tier4 1252 0 0 894 752 45.6865127582017 428 134 23.8434163701068 6 28094190 28094190 C T SNP ZSCAN16 ENST00000340487 human ensembl 70_37 +1 known intronic c.388-371 e2-371 0.032 - - - no_errors ZSCAN16 HGNC ENSG00000196812 tier4 1187 0 0 1547 3 0.193298969072165 521 0 0 6 29173862 29173862 T A SNP ENSG00000232505 ENST00000441381 human ensembl 70_37 +1 known 5_prime_flanking_region c.-17888 NULL 0.000 - - - no_errors XXbac-BPG308J9.3 Clone_based_vega_gene ENSG00000232505 tier3 620 0 0 438 343 43.9180537772087 265 58 17.9566563467492 6 29609884 29609884 T C SNP GABBR1 ENST00000377034 human ensembl 70_37 -1 known 5_prime_flanking_region c.-9722 NULL 0.000 - - - no_errors GABBR1 HGNC ENSG00000204681 tier4 955 0 0 1362 2 0.146627565982405 441 0 0 6 32887917 32887917 T G SNP BRD2 ENST00000374825 human ensembl 70_37 +1 known 5_prime_flanking_region c.-52759 NULL 0.000 - - - no_errors BRD2 HGNC ENSG00000204256 tier4 1275 0 0 1897 2 0.105263157894737 567 2 0.351493848857645 6 35380584 35380584 T G SNP PPARD ENST00000311565 human ensembl 70_37 +1 known intronic c.130+1590 e1+1590 0.001 - - - no_errors PPARD HGNC ENSG00000112033 tier3 916 0 0 1429 2 0.139762403913347 436 1 0.22883295194508 6 35513004 35513004 T G SNP ENSG00000228559 ENST00000450618 human ensembl 70_37 +1 known rna NULL NULL 0.085 - - - no_errors RP3-340B19.3 Clone_based_vega_gene ENSG00000228559 tier1 216 0 0 357 4 1.10803324099723 193 0 0 6 36644269 36644269 T G SNP PI16 ENST00000536757 human ensembl 70_37 +1 known intronic c.1-36699 e1-36699 0.262 - - - no_errors PI16 HGNC ENSG00000164530 tier3 594 0 0 961 3 0.311203319502075 313 1 0.318471337579618 6 37426900 37426900 T G SNP FTSJD2 ENST00000373451 human ensembl 70_37 +1 known intronic c.976+314 e8+314 0.998 - - - no_errors FTSJD2 HGNC ENSG00000137200 tier3 373 0 0 477 1 0.209205020920502 204 4 1.92307692307692 6 37987367 37987367 G T SNP ZFAND3 ENST00000287218 human ensembl 70_37 +1 known intronic c.113-42002 e3-42002 0.001 - - - no_errors ZFAND3 HGNC ENSG00000156639 tier4 1069 0 0 1355 6 0.440852314474651 527 6 1.12570356472795 6 38798679 38798679 G A SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known intronic c.3538-1419 e27-1419 0.094 - - - no_errors DNAH8 HGNC ENSG00000124721 tier4 1479 0 0 1126 794 41.3541666666667 589 133 18.1693989071038 6 40085053 40085053 T C SNP - - - - - - - - - - - - - - - - - - tier3 771 0 0 1048 3 0.285442435775452 389 2 0.51150895140665 6 40152125 40152125 A G SNP - - - - - - - - - - - - - - - - - - tier4 1663 0 0 2219 2 0.090049527239982 610 0 0 6 41223866 41223866 C T SNP RNA5SP207 ENST00000390874 human ensembl 70_37 -1 known 5_prime_flanking_region c.-16502 NULL 0.158 - - - no_errors RNA5SP207 HGNC ENSG00000212176 tier4 827 2 0.241254523522316 637 498 43.8380281690141 353 58 14.1119221411192 6 44406394 44406394 A T SNP CDC5L ENST00000371477 human ensembl 70_37 +1 known intronic c.2092-6998 e15-6998 0.001 - - - no_errors CDC5L HGNC ENSG00000096401 tier3 1419 0 0 2161 3 0.138568129330254 782 0 0 6 46262641 46262641 T G SNP RCAN2 ENST00000306764 human ensembl 70_37 -1 known intronic c.226-46008 e2-46008 0.002 - - - no_errors RCAN2 HGNC ENSG00000172348 tier4 830 0 0 1118 2 0.178412132024978 475 0 0 6 46301823 46301823 T G SNP RCAN2 ENST00000306764 human ensembl 70_37 -1 known intronic c.226-85190 e2-85190 0.011 - - - no_errors RCAN2 HGNC ENSG00000172348 tier4 517 0 0 723 3 0.413223140495868 245 0 0 6 48752815 48752815 A G SNP - - - - - - - - - - - - - - - - - - tier4 1965 1 0.0508388408744281 1442 1298 47.3549799343305 544 77 12.3595505617978 6 49215675 49215675 C A SNP ENSG00000217631 ENST00000402892 human ensembl 70_37 +1 known 5_prime_flanking_region c.-25566 NULL 0.035 - - - no_coding_region:pseudogene RP1-142O9.2 Clone_based_vega_gene ENSG00000217631 tier4 1239 0 0 1715 4 0.232693426410704 489 5 1.01214574898785 6 49316390 49316390 G A SNP RNU7-65P ENST00000516648 human ensembl 70_37 -1 known 5_prime_flanking_region c.-3869 NULL 0.003 - - - no_errors RNU7-65P HGNC ENSG00000252457 tier4 2577 1 0.0387897595034911 2244 1282 36.3481712503544 747 4 0.532623169107856 6 51097075 51097075 T C SNP - - - - - - - - - - - - - - - - - - tier4 704 0 0 920 3 0.325027085590466 326 0 0 6 51635503 51635503 A G SNP PKHD1 ENST00000371117 human ensembl 70_37 -1 known intronic c.8642+1997 e54+1997 0.001 - - - no_errors PKHD1 HGNC ENSG00000170927 tier3 1628 0 0 1222 949 43.7125748502994 669 136 16.8944099378882 6 52265032 52265032 A G SNP PAQR8 ENST00000360726 human ensembl 70_37 +1 known intronic c.1-2928 e1-2928 0.000 - - - no_errors PAQR8 HGNC ENSG00000170915 tier3 1249 0 0 1920 3 0.15600624024961 631 2 0.31496062992126 6 52501570 52501570 T G SNP TMEM14A ENST00000211314 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40331 NULL 0.003 - - - no_errors TMEM14A HGNC ENSG00000096092 tier3 1663 0 0 2371 3 0.126262626262626 565 1 0.176678445229682 6 53736004 53736004 A C SNP LRRC1 ENST00000370888 human ensembl 70_37 +1 known intronic c.278-7787 e3-7787 0.204 - - - no_errors LRRC1 HGNC ENSG00000137269 tier4 975 0 0 1323 2 0.150829562594268 393 0 0 6 54960382 54960382 T G SNP - - - - - - - - - - - - - - - - - - tier4 711 0 0 1010 2 0.197628458498024 299 0 0 6 55047372 55047372 A C SNP HCRTR2 ENST00000370862 human ensembl 70_37 +1 known intronic c.223+7764 e1+7764 0.000 - - - no_errors HCRTR2 HGNC ENSG00000137252 tier4 1323 0 0 1790 2 0.111607142857143 555 0 0 6 55105665 55105665 C T SNP HCRTR2 ENST00000370862 human ensembl 70_37 +1 known intronic c.224-7772 e2-7772 0.000 - - - no_errors HCRTR2 HGNC ENSG00000137252 tier3 2108 0 0 2878 2 0.0693721817551162 863 2 0.229095074455899 6 55138241 55138241 T C SNP HCRTR2 ENST00000370862 human ensembl 70_37 +1 known intronic c.763-3937 e5-3937 0.001 - - - no_errors HCRTR2 HGNC ENSG00000137252 tier4 966 0 0 1340 2 0.14903129657228 451 2 0.441501103752759 6 55856570 55856570 G T SNP - - - - - - - - - - - - - - - - - - tier4 833 0 0 1012 3 0.295566502463054 365 0 0 6 56311343 56311343 A C SNP ENSG00000266793 ENST00000578149 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-14103 NULL 0.002 - - - no_errors AL137008.1 Clone_based_ensembl_gene ENSG00000266793 tier3 892 0 0 1274 1 0.0783699059561128 429 2 0.46189376443418 6 56488783 56488783 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known intronic c.4830+545 e35+545 0.001 - - - no_errors DST HGNC ENSG00000151914 tier3 469 0 0 604 2 0.328407224958949 245 0 0 6 56883052 56883052 A C SNP BEND6 ENST00000370746 human ensembl 70_37 +1 known intronic c.713-167 e5-167 0.000 - - - no_errors BEND6 HGNC ENSG00000151917 tier3 1061 0 0 1603 4 0.248911014312383 496 3 0.601202404809619 6 56981082 56981082 T G SNP ZNF451 ENST00000370706 human ensembl 70_37 +1 known intronic c.187-8450 e4-8450 0.006 - - - no_errors ZNF451 HGNC ENSG00000112200 tier4 1133 0 0 1708 4 0.233508464681845 391 2 0.508905852417303 6 57057769 57057769 A G SNP RAB23 ENST00000317483 human ensembl 70_37 -1 known intronic c.574+871 e5+871 0.002 - - - no_errors RAB23 HGNC ENSG00000112210 tier3 1320 0 0 1765 2 0.113186191284663 523 0 0 6 57310405 57310405 A C SNP PRIM2 ENST00000389488 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors PRIM2 HGNC ENSG00000146143 tier3 1131 0 0 1495 2 0.133600534402138 627 1 0.158730158730159 6 57645829 57645829 C A SNP ENSG00000231273 ENST00000456887 human ensembl 70_37 +1 known 5_prime_flanking_region c.-45066 NULL 0.000 - - - no_errors RP11-343D24.2 Clone_based_vega_gene ENSG00000231273 tier3 1234 0 0 1672 3 0.17910447761194 528 0 0 6 57745592 57745592 A C SNP ENSG00000262828 ENST00000576904 human ensembl 70_37 -1 known 3_prime_flanking_region c.*48340 NULL 0.002 - - - no_coding_region:pseudogene RP11-325M4.2 Clone_based_vega_gene ENSG00000262828 tier3 759 0 0 1010 2 0.197628458498024 362 0 0 6 58221863 58221863 T C SNP ENSG00000236143 ENST00000440989 human ensembl 70_37 +1 putative 5_prime_flanking_region c.-21511 NULL 0.088 - - - no_errors XXbac-BPG55C20.6 Clone_based_vega_gene ENSG00000236143 tier4 921 0 0 1324 3 0.226073850791258 436 0 0 6 62346676 62346676 A C SNP ENSG00000250686 ENST00000511849 human ensembl 70_37 -1 known intronic c.NULL NULL 0.007 - - - no_errors RP1-240B8.3 Clone_based_vega_gene ENSG00000250686 tier3 1532 0 0 2167 1 0.0461041954817888 552 2 0.36036036036036 6 63902643 63902643 C T SNP FKBP1C ENST00000370659 human ensembl 70_37 +1 known 5_prime_flanking_region c.-18819 NULL 0.008 - - - no_errors FKBP1C HGNC ENSG00000198225 tier3 889 0 0 627 548 46.6382978723404 359 86 19.2393736017897 6 63985187 63985187 C T SNP ENSG00000218520 ENST00000495602 human ensembl 70_37 -1 known 5_prime_flanking_region c.-45172 NULL 0.045 - - - no_coding_region:pseudogene RP11-184C23.4 Clone_based_vega_gene ENSG00000218520 tier4 85 0 0 77 35 31.25 57 0 0 6 64130172 64130172 G C SNP ENSG00000218048 ENST00000402043 human ensembl 70_37 +1 known 5_prime_flanking_region c.-20499 NULL 0.003 - - - no_coding_region:pseudogene RP3-407E4.4 Clone_based_vega_gene ENSG00000218048 tier4 495 0 0 742 2 0.268817204301075 254 0 0 6 64850357 64850357 A C SNP EYS ENST00000370616 human ensembl 70_37 -1 known intronic c.6425-58462 e29-58462 0.001 - - - no_errors EYS HGNC ENSG00000188107 tier4 386 0 0 474 3 0.628930817610063 194 0 0 6 64867399 64867399 C T SNP EYS ENST00000370616 human ensembl 70_37 -1 known intronic c.6424+73086 e28+73086 0.020 - - - no_errors EYS HGNC ENSG00000188107 tier4 380 0 0 320 145 31.1827956989247 182 0 0 6 66494925 66494925 G C SNP SLC25A51P1 ENST00000468432 human ensembl 70_37 +1 known 5_prime_flanking_region c.-3385 NULL 0.000 - - - no_coding_region:pseudogene SLC25A51P1 HGNC ENSG00000220483 tier3 1209 1 0.0826446280991736 1518 2 0.131406044678055 469 8 1.67364016736402 6 67698596 67698596 C T SNP - - - - - - - - - - - - - - - - - - tier4 1136 3 0.263157894736842 764 555 42.0454545454545 452 112 19.7530864197531 6 67929269 67929269 C T SNP ENSG00000212229 ENST00000390927 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-8896 NULL 0.022 - - - no_errors SNORD65 RFAM ENSG00000212229 tier4 1355 0 0 1574 180 10.2622576966933 616 0 0 6 68677475 68677475 T C SNP - - - - - - - - - - - - - - - - - - tier3 999 0 0 1383 4 0.288392213410238 470 1 0.211864406779661 6 70011101 70011101 T C SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known intronic c.2815-23663 e19-23663 0.003 - - - no_errors BAI3 HGNC ENSG00000135298 tier4 702 0 0 934 8 0.848356309650053 274 3 1.0752688172043 6 70146955 70146955 T G SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known 3_prime_flanking_region c.*48172 NULL 0.000 - - - no_errors BAI3 HGNC ENSG00000135298 tier3 1523 0 0 1962 2 0.10183299389002 697 0 0 6 70355208 70355208 C A SNP LMBRD1 ENST00000370577 human ensembl 70_37 -1 known 3_prime_flanking_region c.*30842 NULL 0.004 - - - no_errors LMBRD1 HGNC ENSG00000168216 tier3 1072 0 0 1510 3 0.198281559814937 435 3 0.684931506849315 6 70697308 70697308 C T SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known intronic c.1026+24546 e10+24546 0.000 - - - no_errors COL19A1 HGNC ENSG00000082293 tier3 1019 0 0 681 585 46.1720599842147 465 70 13.0353817504655 6 71270090 71270090 C G SNP FAM135A ENST00000418814 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*466 NULL 1.000 - - - no_errors FAM135A HGNC ENSG00000082269 tier2 1105 0 0 1555 3 0.192554557124519 572 1 0.173913043478261 6 71587404 71587404 A C SNP B3GAT2 ENST00000230053 human ensembl 70_37 -1 known intronic c.737-15723 e3-15723 0.008 - - - no_errors B3GAT2 HGNC ENSG00000112309 tier3 637 1 0.156494522691706 966 6 0.617283950617284 274 8 2.83687943262411 6 71974890 71974890 G T SNP LOC100507367 ENST00000412751 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-154D6.1 Clone_based_vega_gene ENSG00000232295 tier3 1720 0 0 2251 2 0.0887705281846427 767 2 0.260078023407022 6 72241742 72241742 A T SNP ENSG00000212099 ENST00000390810 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*6845 NULL 0.001 - - - no_errors AL035467.1 Clone_based_ensembl_gene ENSG00000212099 tier4 973 0 0 691 567 45.0715421303657 395 99 19.9596774193548 6 73581318 73581318 C T SNP KCNQ5 ENST00000402622 human ensembl 70_37 +1 known intronic c.399-132313 e2-132313 0.089 - - - no_errors KCNQ5 HGNC ENSG00000185760 tier3 1221 1 0.0818330605564648 809 642 44.2453480358374 413 76 15.4158215010142 6 74890962 74890962 A G SNP ENSG00000223786 ENST00000435946 human ensembl 70_37 +1 known intronic c.NULL NULL 0.017 - - - no_errors RP11-554D15.1 Clone_based_vega_gene ENSG00000223786 tier3 823 0 0 1124 4 0.354609929078014 475 0 0 6 75341497 75341497 C A SNP ENSG00000238052 ENST00000432484 human ensembl 70_37 -1 known intronic c.NULL NULL 0.017 - - - no_errors RP11-554D15.3 Clone_based_vega_gene ENSG00000238052 tier3 751 0 0 1034 3 0.289296046287367 387 4 1.0230179028133 6 77066685 77066685 C T SNP - - - - - - - - - - - - - - - - - - tier3 797 1 0.125156445556946 512 448 46.6666666666667 379 68 15.1447661469933 6 77425264 77425264 T C SNP - - - - - - - - - - - - - - - - - - tier3 1093 0 0 1419 2 0.140646976090014 449 0 0 6 79123738 79123738 A C SNP - - - - - - - - - - - - - - - - - - tier4 915 0 0 1195 2 0.167084377610693 432 1 0.23094688221709 6 79196742 79196742 C A SNP - - - - - - - - - - - - - - - - - - tier3 974 9 0.915564598168871 732 568 43.6923076923077 342 98 22.2727272727273 6 79437167 79437167 G A SNP - - - - - - - - - - - - - - - - - - tier4 1283 0 0 1507 133 8.1048141377209 586 0 0 6 84375804 84375804 T G SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known intronic c.131-504 e2-504 0.000 - - - no_errors SNAP91 HGNC ENSG00000065609 tier3 1058 0 0 1496 3 0.200133422281521 468 1 0.212314225053079 6 85019902 85019902 G A SNP - - - - - - - - - - - - - - - - - - tier4 756 0 0 464 387 45.4225352112676 299 82 21.3541666666667 6 85234707 85234707 G A SNP ENSG00000231776 ENST00000454172 human ensembl 70_37 -1 known intronic c.NULL NULL 0.004 - - - no_errors RP1-90L14.1 Clone_based_vega_gene ENSG00000231776 tier3 801 0 0 529 444 45.6320657759507 324 77 19.2019950124688 6 85814073 85814073 G T SNP - - - - - - - - - - - - - - - - - - tier4 942 0 0 1258 3 0.237341772151899 444 0 0 6 87544876 87544876 G T SNP - - - - - - - - - - - - - - - - - - tier4 662 0 0 943 4 0.421940928270042 434 0 0 6 88097802 88097802 G T SNP ENSG00000226524 ENST00000448282 human ensembl 70_37 +1 known intronic c.NULL NULL 0.729 - - - no_errors RP1-102H19.6 Clone_based_vega_gene ENSG00000226524 tier3 742 0 0 500 427 46.0129310344828 229 80 25.7234726688103 6 88742036 88742036 G T SNP SPACA1 ENST00000237201 human ensembl 70_37 +1 known 5_prime_flanking_region c.-15588 NULL 0.527 - - - no_errors SPACA1 HGNC ENSG00000118434 tier4 1006 0 0 1259 7 0.551181102362205 387 5 1.26903553299492 6 89222131 89222131 C T SNP - - - - - - - - - - - - - - - - - - tier3 874 1 0.114155251141553 626 496 44.1674087266251 352 80 18.5185185185185 6 89705816 89705816 G C SNP RNGTT ENST00000369485 human ensembl 70_37 -1 known 5_prime_flanking_region c.-32688 NULL 0.114 - - - no_errors RNGTT HGNC ENSG00000111880 tier4 1005 0 0 804 659 45.0444292549556 438 110 20.0729927007299 6 89776421 89776421 T G SNP PNRC1 ENST00000336032 human ensembl 70_37 +1 known 5_prime_flanking_region c.-14193 NULL 0.009 - - - no_errors PNRC1 HGNC ENSG00000146278 tier3 1238 0 0 1770 2 0.112803158488438 521 0 0 6 90341006 90341006 C A SNP ANKRD6 ENST00000339746 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*283 NULL 0.014 - - - no_errors ANKRD6 HGNC ENSG00000135299 tier3 657 1 0.151515151515152 961 1 0.103626943005181 312 9 2.80373831775701 6 90540375 90540375 A G SNP CASP8AP2 ENST00000444163 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 882 0 0 1303 1 0.0766283524904215 426 3 0.699300699300699 6 91318836 91318836 T G SNP MAP3K7 ENST00000369329 human ensembl 70_37 -1 known 5_prime_flanking_region c.-22234 NULL 0.011 - - - no_errors MAP3K7 HGNC ENSG00000135341 tier3 1918 0 0 2656 1 0.0376364320662401 670 2 0.297619047619048 6 91642218 91642218 G T SNP - - - - - - - - - - - - - - - - - - tier3 638 0 0 818 3 0.365408038976857 386 0 0 6 91960472 91960472 T G SNP - - - - - - - - - - - - - - - - - - tier3 1677 0 0 2149 2 0.0929368029739777 759 0 0 6 92388200 92388200 G A SNP ENSG00000224944 ENST00000437768 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors RP3-433F14.3 Clone_based_vega_gene ENSG00000224944 tier3 1166 0 0 782 619 44.119743406985 555 93 14.3518518518519 6 94359045 94359045 A C SNP - - - - - - - - - - - - - - - - - - tier4 986 0 0 1294 2 0.15420200462606 444 0 0 6 94499302 94499302 G C SNP - - - - - - - - - - - - - - - - - - tier3 1202 1 0.0831255195344971 730 620 45.9259259259259 443 96 17.8107606679035 6 95574709 95574709 T A SNP - - - - - - - - - - - - - - - - - - tier3 1747 0 0 2565 16 0.619914761720263 629 131 17.2368421052632 6 95607231 95607231 A C SNP - - - - - - - - - - - - - - - - - - tier3 885 0 0 1222 3 0.244498777506112 350 2 0.568181818181818 6 97054147 97054147 T C SNP FHL5 ENST00000326771 human ensembl 70_37 +1 known intronic c.504+200 e3+200 0.001 - - - no_errors FHL5 HGNC ENSG00000112214 tier3 1208 0 0 1623 1 0.061576354679803 502 2 0.395256916996047 6 97282533 97282533 T A SNP GPR63 ENST00000229955 human ensembl 70_37 -1 known intronic c.1+2611 e0+2611 0.009 - - - no_errors GPR63 HGNC ENSG00000112218 tier3 1121 0 0 1512 4 0.263852242744063 470 0 0 6 97471725 97471725 G A SNP KLHL32 ENST00000369261 human ensembl 70_37 +1 known intronic c.205-17643 e3-17643 0.000 - - - no_errors KLHL32 HGNC ENSG00000186231 tier3 1316 0 0 1842 1 0.0542299349240781 608 74 10.8504398826979 6 97570461 97570461 T G SNP KLHL32 ENST00000369261 human ensembl 70_37 +1 known intronic c.1355-4819 e7-4819 0.001 - - - no_errors KLHL32 HGNC ENSG00000186231 tier3 1630 0 0 2374 2 0.0841750841750842 611 3 0.488599348534202 6 98301274 98301274 G A SNP - - - - - - - - - - - - - - - - - - tier4 1562 0 0 1190 841 41.4081733136386 585 124 17.4894217207334 6 99036556 99036556 A G SNP ENSG00000235504 ENST00000424521 human ensembl 70_37 +1 putative 3_prime_flanking_region c.*30109 NULL 0.044 - - - no_errors RP3-453D15.1 Clone_based_vega_gene ENSG00000235504 tier3 842 0 0 1024 2 0.194741966893866 380 1 0.26246719160105 6 99949536 99949536 T C SNP USP45 ENST00000327681 human ensembl 70_37 -1 known intronic c.478+2105 e4+2105 0.024 - - - no_errors USP45 HGNC ENSG00000123552 tier4 1554 0 0 2167 2 0.0922083909635777 739 0 0 6 100246367 100246367 G T SNP - - - - - - - - - - - - - - - - - - tier4 1364 0 0 1732 5 0.287686996547756 518 2 0.383141762452107 6 100917942 100917942 C G SNP SIM1 ENST00000262901 human ensembl 70_37 -1 known 5_prime_flanking_region c.-6598 NULL 0.005 - - - no_errors SIM1 HGNC ENSG00000112246 tier3 966 0 0 569 450 44.1609421000981 335 75 17.9856115107914 6 101480764 101480764 T C SNP - - - - - - - - - - - - - - - - - - tier4 350 0 0 456 3 0.65359477124183 213 2 0.930232558139535 6 101742666 101742666 A G SNP - - - - - - - - - - - - - - - - - - tier4 1664 0 0 2318 2 0.0862068965517241 619 1 0.161290322580645 6 101750797 101750797 A C SNP - - - - - - - - - - - - - - - - - - tier4 986 0 0 1334 2 0.149700598802395 442 1 0.224719101123596 6 102800535 102800535 A C SNP - - - - - - - - - - - - - - - - - - tier4 537 0 0 715 1 0.139664804469274 354 2 0.561797752808989 6 102928843 102928843 A G SNP ENSG00000219757 ENST00000407792 human ensembl 70_37 -1 known 5_prime_flanking_region c.-27176 NULL 0.000 - - - no_coding_region:pseudogene RP11-793L10.1 Clone_based_vega_gene ENSG00000219757 tier3 1273 0 0 1638 2 0.121951219512195 566 0 0 6 103160818 103160818 G A SNP - - - - - - - - - - - - - - - - - - tier3 1108 0 0 981 388 28.3418553688824 496 0 0 6 103594873 103594873 C T SNP - - - - - - - - - - - - - - - - - - tier4 1037 0 0 1325 23 1.70496664195701 393 86 17.9540709812109 6 103647273 103647273 A T SNP - - - - - - - - - - - - - - - - - - tier3 1210 0 0 1623 44 2.63947210557888 551 0 0 6 103796261 103796261 T G SNP - - - - - - - - - - - - - - - - - - tier3 935 0 0 1287 1 0.077639751552795 421 3 0.707547169811321 6 103799663 103799663 T C SNP - - - - - - - - - - - - - - - - - - tier3 1167 0 0 823 608 42.4877707896576 494 99 16.6947723440135 6 104334019 104334019 A C SNP - - - - - - - - - - - - - - - - - - tier3 755 0 0 1041 3 0.28735632183908 399 1 0.25 6 105543280 105543280 A T SNP BVES-AS1 ENST00000369120 human ensembl 70_37 +1 known 5_prime_flanking_region c.-42418 NULL 0.141 - - - no_errors BVES-AS1 HGNC ENSG00000203808 tier4 1966 0 0 2728 3 0.109729334308705 955 4 0.417101147028154 6 105968944 105968944 T G SNP - - - - - - - - - - - - - - - - - - tier3 720 0 0 1067 4 0.373482726423903 384 0 0 6 106090848 106090848 C A SNP ENSG00000237567 ENST00000423489 human ensembl 70_37 -1 known 5_prime_flanking_region c.-10777 NULL 1.000 - - - no_errors RP3-359N14.2 Clone_based_vega_gene ENSG00000237567 tier3 923 0 0 1354 2 0.147492625368732 452 0 0 6 107201700 107201700 A G SNP LOC100422737 ENST00000415714 human ensembl 70_37 -1 known intronic c.NULL NULL 0.003 - - - no_errors RP1-60O19.1 Clone_based_vega_gene ENSG00000235142 tier3 713 0 0 1004 3 0.297914597815293 378 1 0.263852242744063 6 108267128 108267128 G T SNP SEC63 ENST00000369002 human ensembl 70_37 -1 known intronic c.124+11962 e1+11962 0.000 - - - no_errors SEC63 HGNC ENSG00000025796 tier4 1475 0 0 2154 3 0.139082058414465 626 6 0.947867298578199 6 108267136 108267136 G T SNP SEC63 ENST00000369002 human ensembl 70_37 -1 known intronic c.124+11954 e1+11954 0.001 - - - no_errors SEC63 HGNC ENSG00000025796 tier4 1327 0 0 1954 2 0.102197240674502 562 4 0.704225352112676 6 109123164 109123164 T G SNP ARMC2 ENST00000392644 human ensembl 70_37 +1 known 5_prime_flanking_region c.-52307 NULL 0.005 - - - no_errors ARMC2 HGNC ENSG00000118690 tier3 449 0 0 701 4 0.567375886524823 262 2 0.757575757575758 6 109566209 109566209 A G SNP C6orf183 ENST00000534901 human ensembl 70_37 +1 known intronic c.441+2700 e3+2700 0.007 - - - no_errors C6orf183 HGNC ENSG00000243587 tier3 998 0 0 1525 2 0.125156445556946 552 3 0.516351118760757 6 111927319 111927319 C T SNP TRAF3IP2 ENST00000340026 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-4902 NULL 0.000 - - - no_errors TRAF3IP2 HGNC ENSG00000056972 tier3 462 2 0.431034482758621 395 303 43.4097421203438 248 48 16.1073825503356 6 112572028 112572028 C T SNP LAMA4 ENST00000230538 human ensembl 70_37 -1 known intronic c.195+3130 e1+3130 0.000 - - - no_errors LAMA4 HGNC ENSG00000112769 tier3 811 0 0 1095 4 0.363636363636364 467 0 0 6 112984924 112984924 T G SNP ENSG00000225580 ENST00000418595 human ensembl 70_37 -1 known 5_prime_flanking_region c.-45842 NULL 0.016 - - - no_coding_region:pseudogene RP1-159M24.1 Clone_based_vega_gene ENSG00000225580 tier4 389 0 0 544 2 0.366300366300366 213 1 0.467289719626168 6 114178246 114178246 A C SNP MARCKS ENST00000368635 human ensembl 70_37 +1 known 5_prime_flanking_region c.-676 NULL 0.227 - - - no_errors MARCKS HGNC ENSG00000155130 tier2 1025 0 0 1565 2 0.127632418634333 466 2 0.427350427350427 6 114526025 114526025 C T SNP HS3ST5 ENST00000312719 human ensembl 70_37 -1 known intronic c.1+23724 e0+23724 0.000 - - - no_errors HS3ST5 HGNC ENSG00000249853 tier4 1109 0 0 747 696 48.2328482328482 435 93 17.6136363636364 6 114885652 114885652 C T SNP ENSG00000226079 ENST00000435802 human ensembl 70_37 -1 known 5_prime_flanking_region c.-28613 NULL 0.127 - - - no_errors RP3-399L15.2 Clone_based_vega_gene ENSG00000226079 tier4 606 0 0 723 1 0.138121546961326 358 8 2.18579234972678 6 115028244 115028244 A T SNP - - - - - - - - - - - - - - - - - - tier3 1094 0 0 1209 141 10.4444444444444 545 0 0 6 116557891 116557891 T G SNP NT5DC1 ENST00000319550 human ensembl 70_37 +1 known intronic c.803-238 e9-238 0.060 - - - no_errors NT5DC1 HGNC ENSG00000178425 tier4 966 0 0 718 611 45.974416854778 408 91 18.0914512922465 6 117026920 117026920 T G SNP KPNA5 ENST00000356348 human ensembl 70_37 +1 known intronic c.656+597 e7+597 0.001 - - - no_errors KPNA5 HGNC ENSG00000196911 tier3 1111 0 0 1605 4 0.248447204968944 494 5 1.00200400801603 6 117050085 117050085 A C SNP KPNA5 ENST00000356348 human ensembl 70_37 +1 known intronic c.1254-641 e13-641 0.012 - - - no_errors KPNA5 HGNC ENSG00000196911 tier3 1245 0 0 1835 2 0.108873162765378 605 2 0.329489291598023 6 118633343 118633343 T G SNP SLC35F1 ENST00000360388 human ensembl 70_37 +1 known intronic c.1003-1848 e8-1848 0.001 - - - no_errors SLC35F1 HGNC ENSG00000196376 tier3 1324 0 0 1783 1 0.0560538116591928 560 2 0.355871886120996 6 118842316 118842316 T G SNP CEP85L ENST00000368488 human ensembl 70_37 -1 known intronic c.1148+2649 e4+2649 0.001 - - - no_errors CEP85L HGNC ENSG00000111860 tier3 970 0 0 1328 3 0.225394440270473 382 0 0 6 120600803 120600803 T C SNP - - - - - - - - - - - - - - - - - - tier3 1266 0 0 1184 491 29.3134328358209 698 2 0.284900284900285 6 122075107 122075107 T G SNP - - - - - - - - - - - - - - - - - - tier3 1267 0 0 1782 4 0.223838836038053 577 3 0.517241379310345 6 122385498 122385498 A T SNP - - - - - - - - - - - - - - - - - - tier3 472 0 0 368 412 52.8205128205128 206 72 25.8992805755396 6 122423513 122423513 C T SNP - - - - - - - - - - - - - - - - - - tier3 1945 1 0.0513610683102209 1339 1182 46.8675654242665 583 112 16.0688665710187 6 123438814 123438814 T C SNP ENSG00000225504 ENST00000426074 human ensembl 70_37 +1 known 3_prime_flanking_region c.*44742 NULL 0.001 - - - no_errors RP11-160A10.2 Clone_based_vega_gene ENSG00000225504 tier4 1402 1 0.0712250712250712 1084 795 42.309739222991 525 103 16.4012738853503 6 123786434 123786434 T C SNP TRDN ENST00000398178 human ensembl 70_37 -1 known intronic c.854-306 e10-306 1.000 - - - no_errors TRDN HGNC ENSG00000186439 tier3 1035 0 0 650 649 49.9615088529638 422 68 13.8775510204082 6 124100233 124100233 A C SNP NKAIN2 ENST00000368417 human ensembl 70_37 +1 known 5_prime_flanking_region c.-25113 NULL 0.000 - - - no_errors NKAIN2 HGNC ENSG00000188580 tier4 977 0 0 1304 2 0.153139356814701 518 0 0 6 124453168 124453168 T G SNP NKAIN2 ENST00000368417 human ensembl 70_37 +1 known intronic c.55-150983 e2-150983 0.098 - - - no_errors NKAIN2 HGNC ENSG00000188580 tier4 420 0 0 492 3 0.606060606060606 241 1 0.413223140495868 6 125096447 125096447 C A SNP NKAIN2 ENST00000368417 human ensembl 70_37 +1 known intronic c.475-16038 e5-16038 0.000 - - - no_errors NKAIN2 HGNC ENSG00000188580 tier3 699 0 0 981 3 0.303951367781155 306 2 0.641025641025641 6 125749376 125749376 G T SNP ENSG00000228704 ENST00000430672 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-138M12.1 Clone_based_vega_gene ENSG00000228704 tier3 444 0 0 591 8 1.3355592654424 239 0 0 6 126250461 126250461 C T SNP NCOA7 ENST00000368357 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*544 NULL 0.987 - - - no_errors NCOA7 HGNC ENSG00000111912 tier2 1073 0 0 1467 4 0.271739130434783 446 0 0 6 128518392 128518392 G A SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known intronic c.869-12522 e7-12522 0.008 - - - no_errors PTPRK HGNC ENSG00000152894 tier4 478 0 0 345 335 49.2647058823529 112 26 18.8405797101449 6 128835980 128835980 A C SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known intronic c.100+5424 e1+5424 0.000 - - - no_errors PTPRK HGNC ENSG00000152894 tier3 1196 0 0 1677 6 0.356294536817102 523 1 0.190839694656489 6 128902452 128902452 G T SNP ENSG00000260527 ENST00000563385 human ensembl 70_37 +1 putative intronic c.1-1485046 e1-1485046 0.002 - - - overly_large_intron RP11-73O6.4 Clone_based_vega_gene ENSG00000260527 tier4 924 0 0 1204 3 0.248550124275062 352 1 0.28169014084507 6 129184595 129184595 C T SNP ENSG00000260527 ENST00000563385 human ensembl 70_37 +1 putative intronic c.1-1202903 e1-1202903 0.005 - - - overly_large_intron RP11-73O6.4 Clone_based_vega_gene ENSG00000260527 tier4 558 0 0 406 324 44.3835616438356 263 34 11.4478114478114 6 130306553 130306553 G T SNP ENSG00000260527 ENST00000563385 human ensembl 70_37 +1 putative intronic c.1-80945 e1-80945 0.021 - - - overly_large_intron RP11-73O6.4 Clone_based_vega_gene ENSG00000260527 tier4 297 0 0 383 2 0.519480519480519 153 3 1.92307692307692 6 132612448 132612448 A C SNP MOXD1 ENST00000367963 human ensembl 70_37 -1 known 3_prime_flanking_region c.*5844 NULL 0.025 - - - no_errors MOXD1 HGNC ENSG00000079931 tier3 1225 0 0 1847 3 0.162074554294976 481 1 0.20746887966805 6 133602909 133602909 T C SNP EYA4 ENST00000355167 human ensembl 70_37 +1 known intronic c.33+6958 e1+6958 0.004 - - - no_errors EYA4 HGNC ENSG00000112319 tier4 980 0 0 1360 2 0.146842878120411 429 3 0.694444444444444 6 135069633 135069633 A C SNP ENSG00000236389 ENST00000447557 human ensembl 70_37 -1 known 5_prime_flanking_region c.-41146 NULL 0.564 - - - no_errors RP1-287H17.1 Clone_based_vega_gene ENSG00000236389 tier3 1011 0 0 1578 3 0.189753320683112 471 4 0.842105263157895 6 135258717 135258717 A G SNP ALDH8A1 ENST00000265605 human ensembl 70_37 -1 known intronic c.592+1687 e4+1687 0.000 - - - no_errors ALDH8A1 HGNC ENSG00000118514 tier3 510 0 0 656 4 0.605143721633888 234 2 0.847457627118644 6 135420752 135420752 T C SNP HBS1L ENST00000529882 human ensembl 70_37 -1 putative intronic c.88+3314 e1+3314 0.001 - - - no_stop_codon:bad_bp_length_for_coding_region HBS1L HGNC ENSG00000112339 tier3 1211 0 0 999 808 44.6902654867257 481 112 18.8870151770658 6 137840412 137840412 T C SNP OLIG3 ENST00000367734 human ensembl 70_37 -1 known 5_prime_flanking_region c.-25105 NULL 0.000 - - - no_errors OLIG3 HGNC ENSG00000177468 tier3 1413 0 0 1893 3 0.158144438587243 565 0 0 6 138819686 138819686 T A SNP NHSL1 ENST00000427025 human ensembl 70_37 -1 known intronic c.203-2178 e2-2178 0.000 - - - no_errors NHSL1 HGNC ENSG00000135540 tier3 1220 0 0 1612 1 0.0619962802231866 575 3 0.519031141868512 6 138875672 138875672 A C SNP NHSL1 ENST00000427025 human ensembl 70_37 -1 known intronic c.202+17175 e1+17175 0.001 - - - no_errors NHSL1 HGNC ENSG00000135540 tier3 975 0 0 1383 4 0.288392213410238 503 0 0 6 139347137 139347137 G C SNP REPS1 ENST00000450536 human ensembl 70_37 -1 known 5_prime_flanking_region c.-38318 NULL 0.000 - - - no_errors REPS1 HGNC ENSG00000135597 tier4 613 0 0 967 2 0.206398348813209 345 0 0 6 139919023 139919023 T C SNP ATP5F1P6 ENST00000402768 human ensembl 70_37 -1 known 3_prime_flanking_region c.*16552 NULL 0.000 - - - no_coding_region:pseudogene ATP5F1P6 HGNC ENSG00000219806 tier3 312 0 0 409 2 0.48661800486618 169 0 0 6 140720349 140720349 C T SNP - - - - - - - - - - - - - - - - - - tier3 1248 0 0 1481 201 11.9500594530321 504 0 0 6 144154904 144154904 T C SNP ENSG00000257065 ENST00000545614 human ensembl 70_37 +1 known intronic c.58-1884 e3-1884 0.006 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RP3-468K18.5 Clone_based_vega_gene ENSG00000257065 tier3 1242 0 0 1712 4 0.232828870779977 536 0 0 6 144354471 144354471 T G SNP PLAGL1 ENST00000444202 human ensembl 70_37 -1 known intronic c.1+31117 e0+31117 0.002 - - - no_errors PLAGL1 HGNC ENSG00000118495 tier4 762 0 0 1134 4 0.351493848857645 406 0 0 6 145343132 145343132 G T SNP - - - - - - - - - - - - - - - - - - tier4 891 0 0 1151 1 0.0865051903114187 425 6 1.37931034482759 6 146044674 146044674 A C SNP EPM2A ENST00000367519 human ensembl 70_37 -1 known intronic c.301+11660 e1+11660 0.001 - - - no_errors EPM2A HGNC ENSG00000112425 tier3 1357 0 0 1935 3 0.154798761609907 537 1 0.185873605947955 6 146694389 146694389 A C SNP GRM1 ENST00000282753 human ensembl 70_37 +1 known intronic c.1603-13637 e6-13637 0.000 - - - no_errors GRM1 HGNC ENSG00000152822 tier4 1853 0 0 2615 2 0.0763941940412529 508 2 0.392156862745098 6 149975194 149975194 T G SNP KATNA1 ENST00000335647 human ensembl 70_37 -1 known 5_prime_flanking_region c.-15511 NULL 0.005 - - - no_errors KATNA1 HGNC ENSG00000186625 tier4 876 0 0 1468 2 0.135961930659415 499 0 0 6 152039163 152039163 A C SNP ESR1 ENST00000440973 human ensembl 70_37 +1 known intronic c.1+16023 e0+16023 0.000 - - - no_errors ESR1 HGNC ENSG00000091831 tier3 1756 0 0 2713 3 0.110456553755523 658 2 0.303030303030303 6 152204908 152204908 T G SNP ESR1 ENST00000206249 human ensembl 70_37 +1 known intronic c.760+3002 e3+3002 0.001 - - - no_errors ESR1 HGNC ENSG00000091831 tier4 596 0 0 869 2 0.229621125143513 393 4 1.00755667506297 6 152314455 152314455 C T SNP ESR1 ENST00000206249 human ensembl 70_37 +1 known intronic c.1097-18336 e5-18336 0.000 - - - no_errors ESR1 HGNC ENSG00000091831 tier3 599 0 0 453 323 41.6237113402062 244 78 24.0740740740741 6 154544012 154544012 T C SNP IPCEF1 ENST00000367220 human ensembl 70_37 -1 known intronic c.320+292 e4+292 0.000 - - - no_errors IPCEF1 HGNC ENSG00000074706 tier3 742 0 0 1041 3 0.28735632183908 343 0 0 6 155160623 155160623 A C SNP TIAM2 ENST00000461783 human ensembl 70_37 +1 known intronic c.1+6080 e0+6080 0.000 - - - no_errors TIAM2 HGNC ENSG00000146426 tier3 1126 2 0.177304964539007 1650 3 0.181488203266788 530 10 1.8450184501845 6 156021165 156021165 G T SNP ENSG00000238789 ENST00000458982 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-45005 NULL 0.001 - - - no_errors U7 RFAM ENSG00000238789 tier4 1226 1 0.0814995925020375 1438 205 12.477175897748 560 2 0.354609929078014 6 156176725 156176725 T C SNP - - - - - - - - - - - - - - - - - - tier4 617 0 0 828 1 0.120627261761158 291 3 1.02040816326531 6 158232311 158232311 G T SNP SNX9 ENST00000392185 human ensembl 70_37 +1 known 5_prime_flanking_region c.-12156 NULL 0.000 - - - no_errors SNX9 HGNC ENSG00000130340 tier3 990 0 0 1452 4 0.274725274725275 384 5 1.2853470437018 6 158311354 158311354 C A SNP SNX9 ENST00000392185 human ensembl 70_37 +1 known intronic c.301-6505 e5-6505 0.008 - - - no_errors SNX9 HGNC ENSG00000130340 tier3 633 0 0 794 2 0.251256281407035 331 0 0 6 160246291 160246291 A C SNP TCP1 ENST00000321394 human ensembl 70_37 -1 known 5_prime_flanking_region c.-35791 NULL 0.010 - - - no_errors TCP1 HGNC ENSG00000120438 tier3 925 0 0 1472 3 0.203389830508475 480 1 0.206611570247934 6 160536357 160536357 A G SNP SLC22A1 ENST00000366963 human ensembl 70_37 +1 known 5_prime_flanking_region c.-6611 NULL 0.010 - - - no_errors SLC22A1 HGNC ENSG00000175003 tier4 974 0 0 1330 2 0.15015015015015 502 0 0 6 160956693 160956693 C G SNP LPA ENST00000316300 human ensembl 70_37 -1 known intronic c.5842+2194 e37+2194 0.000 - - - no_errors LPA HGNC ENSG00000198670 tier4 1214 0 0 1635 2 0.122174709835064 647 2 0.307219662058372 6 161451993 161451993 T G SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known intronic c.153-3298 e2-3298 0.002 - - - no_errors MAP3K4 HGNC ENSG00000085511 tier3 1463 0 0 2017 4 0.197921820880752 540 2 0.3690036900369 6 162903877 162903877 A G SNP PARK2 ENST00000366898 human ensembl 70_37 -1 known intronic c.8-39372 e2-39372 0.000 - - - no_errors PARK2 HGNC ENSG00000185345 tier4 1039 1 0.0959692898272553 781 650 45.3593859036985 467 119 20.3071672354949 6 163110248 163110248 T C SNP PARK2 ENST00000366898 human ensembl 70_37 -1 known intronic c.7+38446 e1+38446 1.000 - - - no_errors PARK2 HGNC ENSG00000185345 tier3 810 2 0.246305418719212 610 502 45.1438848920863 342 73 17.5903614457831 6 163631669 163631669 G C SNP PACRG ENST00000337019 human ensembl 70_37 +1 known intronic c.614-102142 e5-102142 0.000 - - - no_errors PACRG HGNC ENSG00000112530 tier4 1056 0 0 1336 2 0.149476831091181 492 0 0 6 164574398 164574398 T G SNP ENSG00000230627 ENST00000451328 human ensembl 70_37 -1 known 5_prime_flanking_region c.-43672 NULL 0.010 - - - no_errors RP1-155D22.1 Clone_based_vega_gene ENSG00000230627 tier3 977 0 0 1302 2 0.153374233128834 440 3 0.677200902934537 6 165979629 165979629 G A SNP PDE10A ENST00000539869 human ensembl 70_37 -1 known intronic c.68-22573 e2-22573 0.225 - - - no_errors PDE10A HGNC ENSG00000112541 tier4 819 0 0 1017 3 0.294117647058824 396 0 0 6 167185101 167185101 T C SNP RPS6KA2 ENST00000510118 human ensembl 70_37 -1 known intronic c.124-700 e3-700 0.000 - - - no_errors RPS6KA2 HGNC ENSG00000071242 tier3 844 0 0 1000 2 0.199600798403194 363 1 0.274725274725275 6 168824338 168824338 G A SNP SMOC2 ENST00000354536 human ensembl 70_37 +1 known 5_prime_flanking_region c.-17713 NULL 0.001 - - - no_errors SMOC2 HGNC ENSG00000112562 tier3 750 1 0.133155792276964 551 411 42.7234927234927 295 50 14.4927536231884 6 169577387 169577387 C A SNP ENSG00000261039 ENST00000564830 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-417E7.2 Clone_based_vega_gene ENSG00000261039 tier3 1446 0 0 1967 5 0.253549695740365 705 2 0.282885431400283 6 170073226 170073226 G A SNP WDR27 ENST00000448612 human ensembl 70_37 -1 known intronic c.190-734 e2-734 0.000 - - - no_errors WDR27 HGNC ENSG00000184465 tier3 2448 0 0 3029 303 9.08545727136432 906 6 0.650759219088937 6 170482618 170482618 T A SNP ENSG00000218716 ENST00000405880 human ensembl 70_37 +1 known 5_prime_flanking_region c.-32375 NULL 0.202 - - - no_coding_region:pseudogene RP11-302L19.2 Clone_based_vega_gene ENSG00000218716 tier3 318 0 0 405 5 1.21654501216545 172 2 1.13636363636364 7 1055707 1055707 G A SNP C7orf50 ENST00000357429 human ensembl 70_37 -1 known intronic c.130-5928 e2-5928 0.001 - - - no_errors C7orf50 HGNC ENSG00000146540 tier4 270 0 0 400 3 0.744416873449132 165 0 0 7 3366193 3366193 T C SNP SDK1 ENST00000404826 human ensembl 70_37 +1 known intronic c.298+24677 e1+24677 0.000 - - - no_errors SDK1 HGNC ENSG00000146555 tier4 1281 0 0 1929 4 0.206932229694775 551 2 0.3584229390681 7 3447948 3447948 A G SNP SDK1 ENST00000404826 human ensembl 70_37 +1 known intronic c.298+106432 e1+106432 0.026 - - - no_errors SDK1 HGNC ENSG00000146555 tier4 913 0 0 1303 3 0.229709035222052 402 2 0.495049504950495 7 4131670 4131670 C A SNP SDK1 ENST00000404826 human ensembl 70_37 +1 known intronic c.3324+12454 e22+12454 0.000 - - - no_errors SDK1 HGNC ENSG00000146555 tier4 805 2 0.247831474597274 637 411 39.2175572519084 355 79 18.2027649769585 7 6036862 6036862 A C SNP PMS2 ENST00000265849 human ensembl 70_37 -1 known intronic c.803+95 e7+95 0.000 - - - no_errors PMS2 HGNC ENSG00000122512 tier3 1046 0 0 1693 3 0.176574455562095 561 4 0.707964601769911 7 6412199 6412199 G A SNP FAM220A ENST00000313324 human ensembl 70_37 -1 known 5_prime_flanking_region c.-41414 NULL 0.283 - - - no_errors FAM220A HGNC ENSG00000178397 tier4 930 0 0 1610 4 0.247524752475248 533 2 0.373831775700935 7 7522617 7522617 C T SNP COL28A1 ENST00000399429 human ensembl 70_37 -1 known intronic c.1165-5806 e13-5806 0.004 - - - no_errors COL28A1 HGNC ENSG00000215018 tier4 1408 0 0 1803 31 1.68937329700272 529 117 18 7 8074058 8074058 G A SNP GLCCI1 ENST00000223145 human ensembl 70_37 +1 known intronic c.696+11859 e3+11859 0.237 - - - no_errors GLCCI1 HGNC ENSG00000106415 tier4 725 0 0 974 3 0.306122448979592 369 0 0 7 9810043 9810043 G A SNP ENSG00000234710 ENST00000447999 human ensembl 70_37 +1 known 3_prime_flanking_region c.*901 NULL 0.000 - - - no_errors AC060834.3 Clone_based_vega_gene ENSG00000234710 tier4 1417 1 0.0704721634954193 929 622 40.1031592520954 559 84 13.0232558139535 7 10455725 10455725 G A SNP ENSG00000229091 ENST00000419827 human ensembl 70_37 +1 known 5_prime_flanking_region c.-35213 NULL 0.000 - - - no_coding_region:pseudogene AC009945.3 Clone_based_vega_gene ENSG00000229091 tier4 1911 0 0 1208 908 42.9111531190926 686 138 16.747572815534 7 10622000 10622000 T C SNP - - - - - - - - - - - - - - - - - - tier4 669 0 0 427 324 43.1424766977364 294 56 16 7 11246441 11246441 G T SNP ENSG00000230333 ENST00000428533 human ensembl 70_37 +1 known intronic c.NULL NULL 0.038 - - - no_errors AC004538.3 Clone_based_vega_gene ENSG00000230333 tier2 355 0 0 490 2 0.40650406504065 197 0 0 7 11489360 11489360 A C SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known intronic c.2606-2309 e12-2309 0.000 - - - no_errors THSD7A HGNC ENSG00000005108 tier4 766 0 0 939 3 0.31813361611877 342 3 0.869565217391304 7 11692749 11692749 A C SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known intronic c.191-16161 e2-16161 0.000 - - - no_errors THSD7A HGNC ENSG00000005108 tier3 1213 0 0 1656 5 0.300842358604091 549 3 0.541516245487365 7 12069025 12069025 C G SNP - - - - - - - - - - - - - - - - - - tier3 1471 0 0 949 806 45.8736482640865 589 151 20.3230148048452 7 12109256 12109256 G A SNP - - - - - - - - - - - - - - - - - - tier4 679 0 0 456 353 43.5802469135802 336 53 13.6246786632391 7 12346611 12346611 C A SNP VWDE ENST00000452576 human ensembl 70_37 -1 known 3_prime_flanking_region c.*47339 NULL 0.002 - - - no_errors VWDE HGNC ENSG00000146530 tier4 448 0 0 625 4 0.635930047694754 253 1 0.393700787401575 7 12396820 12396820 A T SNP VWDE ENST00000452576 human ensembl 70_37 -1 known intronic c.3525+71 e17+71 0.001 - - - no_errors VWDE HGNC ENSG00000146530 tier3 860 0 0 1112 6 0.536193029490617 430 3 0.69284064665127 7 13069914 13069914 C T SNP - - - - - - - - - - - - - - - - - - tier2 1194 2 0.167224080267559 906 624 40.7843137254902 403 101 19.8428290766208 7 14092785 14092785 G A SNP ENSG00000252374 ENST00000516565 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-42397 NULL 0.000 - - - no_errors Y_RNA RFAM ENSG00000252374 tier3 642 0 0 547 239 30.3684879288437 410 0 0 7 14933221 14933221 G A SNP DGKB ENST00000403951 human ensembl 70_37 -1 known intronic c.1+9533 e0+9533 0.000 - - - no_errors DGKB HGNC ENSG00000136267 tier4 1026 1 0.0972762645914397 1055 134 11.2699747687132 542 0 0 7 15539767 15539767 T C SNP AGMO ENST00000342526 human ensembl 70_37 -1 known intronic c.409+44630 e3+44630 0.001 - - - no_errors AGMO HGNC ENSG00000187546 tier3 1454 0 0 1063 810 43.2230522945571 522 135 20.5479452054795 7 15634784 15634784 A G SNP AGMO ENST00000342526 human ensembl 70_37 -1 known 5_prime_flanking_region c.-33314 NULL 0.002 - - - no_errors AGMO HGNC ENSG00000187546 tier3 1877 0 0 2590 2 0.0771604938271605 722 0 0 7 16022057 16022057 T C SNP - - - - - - - - - - - - - - - - - - tier4 333 0 0 439 2 0.452488687782805 170 2 1.16279069767442 7 16486173 16486173 G T SNP ISPD ENST00000407010 human ensembl 70_37 -1 known 5_prime_flanking_region c.-25226 NULL 0.000 - - - no_errors ISPD HGNC ENSG00000214960 tier3 1012 0 0 1449 2 0.137741046831956 378 1 0.263852242744063 7 16630269 16630269 C T SNP ENSG00000224280 ENST00000432006 human ensembl 70_37 -1 known 5_prime_flanking_region c.-3887 NULL 0.035 - - - no_coding_region:pseudogene AC005014.5 Clone_based_vega_gene ENSG00000224280 tier4 1158 1 0.0862812769628991 1110 526 32.1319486866219 633 0 0 7 16673758 16673758 G T SNP ANKMY2 ENST00000306999 human ensembl 70_37 -1 known intronic c.132+2258 e2+2258 0.001 - - - no_errors ANKMY2 HGNC ENSG00000106524 tier4 513 0 0 773 2 0.258064516129032 232 0 0 7 16911197 16911197 T G SNP AGR3 ENST00000310398 human ensembl 70_37 -1 known intronic c.173+2207 e2+2207 0.003 - - - no_errors AGR3 HGNC ENSG00000173467 tier4 882 0 0 1194 3 0.25062656641604 418 0 0 7 17681867 17681867 T C SNP ENSG00000228675 ENST00000448898 human ensembl 70_37 +1 known 5_prime_flanking_region c.-37306 NULL 0.001 - - - no_errors AC006482.1 Clone_based_vega_gene ENSG00000228675 tier3 978 0 0 1471 3 0.203527815468114 406 3 0.733496332518337 7 18573007 18573007 A T SNP HDAC9 ENST00000441542 human ensembl 70_37 +1 known intronic c.22+37060 e1+37060 0.000 - - - no_errors HDAC9 HGNC ENSG00000048052 tier4 1123 0 0 1577 2 0.126502213788741 715 0 0 7 18924952 18924952 A C SNP HDAC9 ENST00000441542 human ensembl 70_37 +1 known intronic c.2803+10733 e21+10733 0.002 - - - no_errors HDAC9 HGNC ENSG00000048052 tier4 1071 0 0 1487 2 0.134318334452653 489 4 0.811359026369168 7 19094830 19094830 G C SNP TWIST1 ENST00000443687 human ensembl 70_37 -1 known intronic c.212+844 e1+844 0.004 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TWIST1 HGNC ENSG00000122691 tier4 3199 0 0 3914 590 13.0878438331854 919 2 0.216919739696312 7 19994684 19994684 A G SNP ENSG00000243004 ENST00000415499 human ensembl 70_37 -1 known intronic c.NULL NULL 0.142 - - - no_errors AC005062.2 Clone_based_vega_gene ENSG00000243004 tier4 1176 0 0 1597 3 0.1875 501 3 0.595238095238095 7 20763737 20763737 T G SNP ABCB5 ENST00000258738 human ensembl 70_37 +1 known intronic c.1290+895 e9+895 0.000 - - - no_errors ABCB5 HGNC ENSG00000004846 tier4 1168 0 0 1723 3 0.173812282734647 544 2 0.364963503649635 7 21612769 21612769 C T SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known intronic c.1593+1178 e8+1178 0.000 - - - no_errors DNAH11 HGNC ENSG00000105877 tier3 875 0 0 1021 107 9.48581560283688 461 2 0.431965442764579 7 22175915 22175915 G A SNP RAPGEF5 ENST00000344041 human ensembl 70_37 -1 known intronic c.1870-172 e20-172 0.999 - - - no_errors RAPGEF5 HGNC ENSG00000136237 tier3 1425 0 0 963 885 47.8119935170178 525 138 20.7518796992481 7 23303714 23303714 T A SNP GPNMB ENST00000381990 human ensembl 70_37 +1 known intronic c.1019-2386 e7-2386 0.163 - - - no_errors GPNMB HGNC ENSG00000136235 tier3 524 0 0 862 4 0.46029919447641 252 0 0 7 23930812 23930812 C T SNP ENSG00000227930 ENST00000412828 human ensembl 70_37 -1 known 3_prime_flanking_region c.*511 NULL 0.038 - - - no_errors AC009508.1 Clone_based_vega_gene ENSG00000227930 tier4 786 0 0 1048 2 0.19047619047619 374 6 1.57068062827225 7 24321572 24321572 A G SNP NPY ENST00000242152 human ensembl 70_37 +1 known 5_prime_flanking_region c.-3288 NULL 0.000 - - - no_errors NPY HGNC ENSG00000122585 tier3 871 0 0 513 494 49.0079365079365 273 58 17.5226586102719 7 25104834 25104834 T G SNP - - - - - - - - - - - - - - - - - - tier4 479 0 0 730 2 0.273224043715847 257 1 0.387596899224806 7 25934520 25934520 A C SNP - - - - - - - - - - - - - - - - - - tier3 547 0 0 742 3 0.402684563758389 281 0 0 7 27497874 27497874 C T SNP ENSG00000233830 ENST00000453115 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-27497874 NULL 0.378 - - - no_coding_region:pseudogene AC073150.4 Clone_based_vega_gene ENSG00000233830 tier3 846 0 0 627 468 42.7397260273973 434 74 14.5098039215686 7 29617024 29617024 T C SNP ENSG00000223813 ENST00000447171 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-13745 NULL 0.292 - - - no_errors AC007255.8 Clone_based_vega_gene ENSG00000223813 tier4 822 0 0 1192 2 0.16750418760469 471 2 0.422832980972516 7 29790256 29790256 C A SNP ENSG00000227855 ENST00000414296 human ensembl 70_37 +1 known 3_prime_flanking_region c.*8046 NULL 0.000 - - - no_coding_region:pseudogene AC007276.5 Clone_based_vega_gene ENSG00000227855 tier4 659 10 1.49476831091181 892 16 1.76017601760176 313 34 9.79827089337176 7 30501153 30501153 G T SNP NOD1 ENST00000222823 human ensembl 70_37 -1 known intronic c.1-1496 e1-1496 0.003 - - - no_errors NOD1 HGNC ENSG00000106100 tier4 524 0 0 751 4 0.529801324503311 345 8 2.26628895184136 7 30941695 30941695 G T SNP AQP1 ENST00000434909 human ensembl 70_37 +1 known intronic c.264-9913 e4-9913 0.124 - - - no_errors AQP1 HGNC ENSG00000240583 tier4 497 0 0 617 1 0.161550888529887 205 5 2.3696682464455 7 30982779 30982779 C T SNP GHRHR ENST00000466427 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.034 - - - no_errors GHRHR HGNC ENSG00000106128 tier4 467 0 0 632 3 0.47244094488189 237 2 0.836820083682008 7 34179891 34179891 C G SNP BMPER ENST00000297161 human ensembl 70_37 +1 known intronic c.1746-2951 e14-2951 0.000 - - - no_errors BMPER HGNC ENSG00000164619 tier3 390 0 0 448 2 0.444444444444444 209 0 0 7 34368728 34368728 G T SNP ENSG00000202431 ENST00000365561 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-31518 NULL 0.072 - - - no_errors U6 RFAM ENSG00000202431 tier4 1629 0 0 2182 3 0.137299771167048 584 2 0.338983050847458 7 37946191 37946191 A C SNP SFRP4 ENST00000436072 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*890 NULL 0.000 - - - no_errors SFRP4 HGNC ENSG00000106483 tier3 1865 0 0 2549 2 0.0784006272050176 720 0 0 7 38190485 38190485 A C SNP STARD3NL ENST00000009041 human ensembl 70_37 +1 known 5_prime_flanking_region c.-56621 NULL 0.260 - - - no_errors STARD3NL HGNC ENSG00000010270 tier4 516 0 0 684 2 0.291545189504373 216 2 0.917431192660551 7 38541129 38541129 A C SNP AMPH ENST00000356264 human ensembl 70_37 -1 known intronic c.205+2121 e3+2121 0.001 - - - no_errors AMPH HGNC ENSG00000078053 tier4 853 0 0 1129 3 0.265017667844523 443 0 0 7 38700311 38700311 G T SNP AMPH ENST00000356264 human ensembl 70_37 -1 known 5_prime_flanking_region c.-29360 NULL 0.102 - - - no_errors AMPH HGNC ENSG00000078053 tier4 212 0 0 240 1 0.4149377593361 147 5 3.28947368421053 7 39946214 39946214 T C SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known 5_prime_flanking_region c.-44027 NULL 0.334 - - - no_errors CDK13 HGNC ENSG00000065883 tier4 567 0 0 935 2 0.213447171824973 410 1 0.24330900243309 7 40572129 40572129 G C SNP C7orf10 ENST00000309930 human ensembl 70_37 +1 known intronic c.1110+36144 e12+36144 0.000 - - - no_errors C7orf10 HGNC ENSG00000175600 tier4 869 6 0.684150513112885 1007 99 8.94308943089431 515 3 0.579150579150579 7 40624168 40624168 T C SNP C7orf10 ENST00000309930 human ensembl 70_37 +1 known intronic c.1110+88183 e12+88183 0.998 - - - no_errors C7orf10 HGNC ENSG00000175600 tier4 1038 0 0 1562 2 0.127877237851662 484 3 0.616016427104723 7 40662702 40662702 T C SNP C7orf10 ENST00000309930 human ensembl 70_37 +1 known intronic c.1111-60953 e13-60953 0.028 - - - no_errors C7orf10 HGNC ENSG00000175600 tier3 449 0 0 633 3 0.471698113207547 230 3 1.28755364806867 7 40760419 40760419 C T SNP C7orf10 ENST00000309930 human ensembl 70_37 +1 known intronic c.1189-28614 e14-28614 0.000 - - - no_errors C7orf10 HGNC ENSG00000175600 tier3 1218 0 0 1387 141 9.22774869109948 544 0 0 7 40898727 40898727 G A SNP C7orf10 ENST00000309930 human ensembl 70_37 +1 known intronic c.1253-1188 e15-1188 0.007 - - - no_errors C7orf10 HGNC ENSG00000175600 tier3 1009 1 0.099009900990099 607 570 48.428207306712 420 111 20.7476635514019 7 41751059 41751059 A G SNP INHBA-AS1 ENST00000422822 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors INHBA-AS1 HGNC ENSG00000224116 tier1 1368 0 0 1723 19 1.09070034443169 515 0 0 7 42456417 42456417 G C SNP - - - - - - - - - - - - - - - - - - tier4 1006 0 0 700 541 43.593875906527 457 112 19.4782608695652 7 45694546 45694546 T C SNP ADCY1 ENST00000297323 human ensembl 70_37 +1 known intronic c.1149-2780 e6-2780 0.004 - - - no_errors ADCY1 HGNC ENSG00000164742 tier3 512 0 0 686 2 0.290697674418605 240 0 0 7 46111739 46111739 C T SNP - - - - - - - - - - - - - - - - - - tier3 1018 1 0.098135426889107 679 539 44.2528735632184 396 111 21.8074656188605 7 47348762 47348762 G T SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known intronic c.2651-4161 e16-4161 0.003 - - - no_errors TNS3 HGNC ENSG00000136205 tier4 702 0 0 971 2 0.205549845837616 310 5 1.58730158730159 7 47877199 47877199 A C SNP PKD1L1 ENST00000289672 human ensembl 70_37 -1 known intronic c.5770-507 e37-507 0.001 - - - no_errors PKD1L1 HGNC ENSG00000158683 tier4 668 0 0 969 2 0.205973223480947 301 0 0 7 48275942 48275942 T C SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known intronic c.897+2194 e8+2194 0.114 - - - no_errors ABCA13 HGNC ENSG00000179869 tier4 569 0 0 714 12 1.65289256198347 245 57 18.8741721854305 7 48661645 48661645 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known intronic c.14837+6672 e59+6672 0.001 - - - no_errors ABCA13 HGNC ENSG00000179869 tier3 987 0 0 640 545 45.8754208754209 362 71 16.2471395881007 7 49463356 49463356 G A SNP - - - - - - - - - - - - - - - - - - tier3 1622 2 0.1230012300123 2093 68 3.14378178455848 742 2 0.264550264550265 7 49596634 49596634 G A SNP - - - - - - - - - - - - - - - - - - tier4 1421 0 0 1041 742 41.5686274509804 555 95 14.5705521472393 7 51109969 51109969 C A SNP COBL ENST00000395542 human ensembl 70_37 -1 known intronic c.1652+1111 e10+1111 0.001 - - - no_errors COBL HGNC ENSG00000106078 tier4 1049 0 0 1433 3 0.208478109798471 535 0 0 7 54073653 54073653 C A SNP - - - - - - - - - - - - - - - - - - tier4 1741 1 0.0574052812858783 1257 932 42.5765189584285 701 161 18.677494199536 7 54330860 54330860 A C SNP - - - - - - - - - - - - - - - - - - tier4 1019 1 0.0978473581213307 654 569 46.4869281045752 446 70 13.5658914728682 7 56082953 56082953 T C SNP PSPH ENST00000275605 human ensembl 70_37 -1 known intronic c.422-89 e4-89 0.001 - - - no_errors PSPH HGNC ENSG00000146733 tier3 987 0 0 742 658 46.9329529243937 467 101 17.719298245614 7 57413104 57413104 A G SNP - - - - - - - - - - - - - - - - - - tier4 803 0 0 542 461 45.9163346613546 296 97 24.6819338422392 7 57511945 57511945 C T SNP ZNF716 ENST00000420713 human ensembl 70_37 +1 known intronic c.39+1912 e1+1912 0.005 - - - no_errors ZNF716 HGNC ENSG00000182111 tier3 733 1 0.136239782016349 448 361 44.6229913473424 401 99 19.8 7 57802164 57802164 A G SNP ENSG00000232161 ENST00000442554 human ensembl 70_37 +1 known 5_prime_flanking_region c.-28508 NULL 0.392 - - - no_coding_region:pseudogene RP11-548K12.7 Clone_based_vega_gene ENSG00000232161 tier4 1007 0 0 1283 2 0.15552099533437 616 0 0 7 57819084 57819084 C A SNP ENSG00000232161 ENST00000442554 human ensembl 70_37 +1 known 5_prime_flanking_region c.-11588 NULL 0.085 - - - no_coding_region:pseudogene RP11-548K12.7 Clone_based_vega_gene ENSG00000232161 tier4 1047 0 0 707 485 40.6879194630872 453 111 19.6808510638298 7 57825090 57825090 T A SNP ENSG00000232161 ENST00000442554 human ensembl 70_37 +1 known 5_prime_flanking_region c.-5582 NULL 0.139 - - - no_coding_region:pseudogene RP11-548K12.7 Clone_based_vega_gene ENSG00000232161 tier4 676 0 0 836 4 0.476190476190476 317 0 0 7 57947391 57947391 T A SNP - - - - - - - - - - - - - - - - - - tier4 156 0 0 170 2 1.15606936416185 52 0 0 7 57947412 57947412 T C SNP - - - - - - - - - - - - - - - - - - tier4 160 0 0 167 7 4.02298850574713 53 2 3.50877192982456 7 57958249 57958249 T C SNP - - - - - - - - - - - - - - - - - - tier4 1494 0 0 1924 6 0.310719834282755 668 4 0.591715976331361 7 57959833 57959833 A T SNP - - - - - - - - - - - - - - - - - - tier4 835 0 0 924 3 0.323275862068966 449 1 0.222222222222222 7 57961682 57961682 G A SNP - - - - - - - - - - - - - - - - - - tier4 1637 0 0 2031 2 0.098135426889107 800 2 0.247524752475248 7 57965575 57965575 T C SNP - - - - - - - - - - - - - - - - - - tier4 415 0 0 478 3 0.623700623700624 136 4 2.85714285714286 7 57990827 57990827 T A SNP - - - - - - - - - - - - - - - - - - tier4 833 0 0 943 3 0.316455696202532 475 2 0.419287211740042 7 57990829 57990829 G T SNP - - - - - - - - - - - - - - - - - - tier4 850 0 0 976 2 0.204498977505112 484 4 0.819672131147541 7 57995084 57995084 A T SNP - - - - - - - - - - - - - - - - - - tier4 131 0 0 190 5 2.52525252525253 97 0 0 7 58039606 58039606 T G SNP - - - - - - - - - - - - - - - - - - tier4 264 0 0 330 2 0.588235294117647 111 0 0 7 61080486 61080486 T C SNP - - - - - - - - - - - - - - - - - - tier4 626 0 0 913 4 0.436205016357688 478 2 0.416666666666667 7 61088546 61088546 C A SNP - - - - - - - - - - - - - - - - - - tier4 372 0 0 491 2 0.404040404040404 210 0 0 7 61088610 61088610 A G SNP - - - - - - - - - - - - - - - - - - tier4 279 0 0 370 4 1.06951871657754 145 0 0 7 61088611 61088611 A C SNP - - - - - - - - - - - - - - - - - - tier4 276 0 0 362 5 1.36239782016349 141 0 0 7 61824764 61824764 T G SNP ENSG00000233918 ENST00000454392 human ensembl 70_37 +1 known 3_prime_flanking_region c.*2578 NULL 0.000 - - - no_coding_region:pseudogene RP11-715L17.1 Clone_based_vega_gene ENSG00000233918 tier3 2939 0 0 3790 3 0.079093066174532 1715 0 0 7 61979224 61979224 A T SNP - - - - - - - - - - - - - - - - - - tier4 162 0 0 233 5 2.10084033613445 49 0 0 7 61980733 61980733 C G SNP - - - - - - - - - - - - - - - - - - tier4 2779 0 0 4074 3 0.0735654732712114 1080 0 0 7 61980738 61980738 C A SNP - - - - - - - - - - - - - - - - - - tier4 2708 0 0 3961 2 0.0504413619167718 1067 2 0.186741363211951 7 61982264 61982264 C G SNP - - - - - - - - - - - - - - - - - - tier4 181 0 0 261 2 0.760456273764259 80 0 0 7 61983237 61983237 A C SNP - - - - - - - - - - - - - - - - - - tier4 588 0 0 888 2 0.224719101123596 473 0 0 7 62028690 62028690 T G SNP - - - - - - - - - - - - - - - - - - tier4 554 0 0 825 4 0.482509047044632 352 0 0 7 64820416 64820416 G A SNP ZNF92 ENST00000328747 human ensembl 70_37 +1 known 5_prime_flanking_region c.-18495 NULL 0.026 - - - no_errors ZNF92 HGNC ENSG00000146757 tier3 1178 0 0 780 603 43.5693641618497 442 93 17.3831775700935 7 65049487 65049487 A G SNP ENSG00000235421 ENST00000439631 human ensembl 70_37 -1 known 5_prime_flanking_region c.-29830 NULL 0.902 - - - no_coding_region:pseudogene RP11-667F9.1 Clone_based_vega_gene ENSG00000235421 tier3 1085 25 2.25225225225225 1291 30 2.27100681302044 487 52 9.64749536178108 7 66548451 66548451 T G SNP TYW1 ENST00000359626 human ensembl 70_37 +1 known missense c.1309 p.W437G 1.000 pfam_rSAM pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 tier1 964 0 0 1524 2 0.131061598951507 480 0 0 7 68713568 68713568 G A SNP ENSG00000225718 ENST00000435148 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-3P22.2 Clone_based_vega_gene ENSG00000225718 tier4 1060 0 0 805 597 42.551674982181 528 130 19.7568389057751 7 70199494 70199494 T C SNP AUTS2 ENST00000342771 human ensembl 70_37 +1 known intronic c.743-28362 e7-28362 0.000 - - - no_errors AUTS2 HGNC ENSG00000158321 tier3 1897 0 0 2320 4 0.171895143962183 943 0 0 7 70930099 70930099 C T SNP WBSCR17 ENST00000333538 human ensembl 70_37 +1 known intronic c.962+44008 e5+44008 0.498 - - - no_errors WBSCR17 HGNC ENSG00000185274 tier4 946 1 0.105485232067511 705 618 46.7120181405896 497 132 20.9856915739269 7 72029345 72029345 A G SNP TYW1B ENST00000438125 human ensembl 70_37 -1 known intronic c.NULL NULL 0.278 - - - no_errors TYW1B HGNC ENSG00000254184 tier4 867 0 0 1100 2 0.181323662737987 533 0 0 7 72073933 72073933 C T SNP TYW1B ENST00000438125 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors TYW1B HGNC ENSG00000254184 tier4 1088 0 0 868 738 45.9526774595268 484 93 16.0068846815835 7 72293539 72293539 C T SNP ENSG00000266569 ENST00000585039 human ensembl 70_37 -1 novel rna NULL NULL 0.364 - - - no_errors Metazoa_SRP RFAM ENSG00000266569 tier1 396 0 0 615 3 0.485436893203883 245 0 0 7 72293552 72293552 G A SNP ENSG00000266569 ENST00000585039 human ensembl 70_37 -1 novel rna NULL NULL 0.374 - - - no_errors Metazoa_SRP RFAM ENSG00000266569 tier1 338 0 0 524 3 0.568181818181818 205 0 0 7 72690316 72690316 T G SNP GTF2IRD2P1 ENST00000449689 human ensembl 70_37 -1 known intronic c.NULL NULL 0.199 - - - no_coding_region:pseudogene GTF2IRD2P1 HGNC ENSG00000214544 tier4 1784 0 0 3261 3 0.0918554807103491 747 0 0 7 72753514 72753514 G T SNP FKBP6 ENST00000252037 human ensembl 70_37 +1 known intronic c.589-1126 e6-1126 0.187 - - - no_errors FKBP6 HGNC ENSG00000077800 tier4 1017 0 0 1536 2 0.130039011703511 664 0 0 7 73336984 73336984 T G SNP - - - - - - - - - - - - - - - - - - tier4 1130 0 0 1877 3 0.159404888416578 330 0 0 7 73664820 73664820 G A SNP RFC2 ENST00000055077 human ensembl 70_37 -1 known intronic c.184-710 e3-710 0.051 - - - no_errors RFC2 HGNC ENSG00000049541 tier3 729 0 0 610 422 40.8518877057115 345 60 14.8148148148148 7 74048202 74048202 T G SNP GTF2I ENST00000324896 human ensembl 70_37 +1 known 5_prime_flanking_region c.-55261 NULL 0.005 - - - no_errors GTF2I HGNC ENSG00000077809 tier3 628 0 0 1003 2 0.199004975124378 349 5 1.41242937853107 7 76490944 76490944 T C SNP UPK3B ENST00000419923 human ensembl 70_37 +1 known intronic c.963-157197 e5-157197 0.000 - - - no_errors UPK3B HGNC ENSG00000243566 tier3 937 0 0 1205 1 0.0828500414250207 501 28 5.27306967984934 7 77379331 77379331 T G SNP RSBN1L ENST00000334955 human ensembl 70_37 +1 known missense c.1294 p.L432V 0.992 NULL NULL - no_errors RSBN1L HGNC ENSG00000187257 tier1 1587 0 0 2339 6 0.255645504899872 815 0 0 7 77811911 77811911 T C SNP MAGI2 ENST00000354212 human ensembl 70_37 -1 known intronic c.2311+3035 e13+3035 0.000 - - - no_errors MAGI2 HGNC ENSG00000187391 tier3 702 0 0 1013 4 0.393313667649951 425 0 0 7 77870568 77870568 C T SNP MAGI2 ENST00000354212 human ensembl 70_37 -1 known intronic c.2047+14692 e10+14692 0.003 - - - no_errors MAGI2 HGNC ENSG00000187391 tier4 645 1 0.154798761609907 385 346 47.2677595628415 276 86 23.7569060773481 7 78286189 78286189 G A SNP MAGI2 ENST00000354212 human ensembl 70_37 -1 known intronic c.419-29634 e3-29634 0.002 - - - no_errors MAGI2 HGNC ENSG00000187391 tier4 1798 0 0 2370 2 0.0842815002107038 542 0 0 7 78476686 78476686 T G SNP MAGI2 ENST00000354212 human ensembl 70_37 -1 known intronic c.418+159720 e2+159720 0.000 - - - no_errors MAGI2 HGNC ENSG00000187391 tier3 1063 0 0 1325 3 0.225903614457831 486 3 0.613496932515337 7 78610101 78610101 G T SNP MAGI2 ENST00000354212 human ensembl 70_37 -1 known intronic c.418+26305 e2+26305 0.004 - - - no_errors MAGI2 HGNC ENSG00000187391 tier4 972 0 0 1258 2 0.158730158730159 551 0 0 7 79167889 79167889 C T SNP ENSG00000226285 ENST00000416748 human ensembl 70_37 -1 known 3_prime_flanking_region c.*5338 NULL 0.000 - - - no_coding_region:pseudogene AC091813.2 Clone_based_vega_gene ENSG00000226285 tier3 1294 0 0 840 626 42.6721199727335 492 118 19.281045751634 7 80042502 80042502 T C SNP CD36 ENST00000435819 human ensembl 70_37 +1 known intronic c.1+43405 e0+43405 0.007 - - - no_errors CD36 HGNC ENSG00000135218 tier3 1319 0 0 1015 842 45.3175457481163 592 132 18.232044198895 7 80360721 80360721 T G SNP SEMA3C ENST00000544525 human ensembl 70_37 -1 known 3_prime_flanking_region c.*13489 NULL 0.008 - - - no_errors SEMA3C HGNC ENSG00000075223 tier4 714 0 0 1185 3 0.252312867956266 416 0 0 7 81394558 81394558 C A SNP HGF ENST00000222390 human ensembl 70_37 -1 known intronic c.89-2370 e2-2370 0.001 - - - no_errors HGF HGNC ENSG00000019991 tier3 729 0 0 906 1 0.110253583241455 263 2 0.754716981132075 7 81660912 81660912 T G SNP CACNA2D1 ENST00000356253 human ensembl 70_37 -1 known intronic c.1143+1201 e12+1201 0.001 - - - no_errors CACNA2D1 HGNC ENSG00000153956 tier3 1370 0 0 1965 2 0.101677681748856 586 1 0.170357751277683 7 82077224 82077224 T G SNP CACNA2D1 ENST00000356253 human ensembl 70_37 -1 known 5_prime_flanking_region c.-4449 NULL 0.000 - - - no_errors CACNA2D1 HGNC ENSG00000153956 tier3 1231 0 0 1787 2 0.111794298490777 600 1 0.165562913907285 7 83140496 83140496 T C SNP SEMA3E ENST00000307792 human ensembl 70_37 -1 known intronic c.116-20906 e2-20906 0.001 - - - no_errors SEMA3E HGNC ENSG00000170381 tier3 953 0 0 1258 2 0.158730158730159 439 4 0.898876404494382 7 83952234 83952234 T G SNP SEMA3A ENST00000471474 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors SEMA3A HGNC ENSG00000075213 tier4 1023 0 0 1435 5 0.347222222222222 477 6 1.24223602484472 7 85638923 85638923 G A SNP - - - - - - - - - - - - - - - - - - tier3 1092 1 0.091324200913242 1308 25 1.87406296851574 440 94 17.6029962546816 7 87576232 87576232 C G SNP ADAM22 ENST00000265727 human ensembl 70_37 +1 known intronic c.246+11731 e2+11731 0.006 - - - no_errors ADAM22 HGNC ENSG00000008277 tier4 268 0 0 346 2 0.574712643678161 231 0 0 7 88228602 88228602 C G SNP ENSG00000211518 ENST00000390184 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-41233 NULL 0.000 - - - no_errors AC006988.1 Clone_based_ensembl_gene ENSG00000211518 tier3 1169 0 0 1621 2 0.123076923076923 494 0 0 7 90856353 90856353 A C SNP FZD1 ENST00000287934 human ensembl 70_37 +1 known 5_prime_flanking_region c.-37843 NULL 0.002 - - - no_errors FZD1 HGNC ENSG00000157240 tier4 639 0 0 771 2 0.258397932816537 288 0 0 7 90931782 90931782 T G SNP ENSG00000243144 ENST00000418395 human ensembl 70_37 +1 known 5_prime_flanking_region c.-9973 NULL 0.000 - - - no_errors RP11-115N4.1 Clone_based_vega_gene ENSG00000243144 tier3 1138 0 0 1567 2 0.127388535031847 478 0 0 7 91093914 91093914 C T SNP ENSG00000243144 ENST00000418395 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-115N4.1 Clone_based_vega_gene ENSG00000243144 tier3 839 2 0.237812128418549 826 223 21.2583412774071 461 0 0 7 92421032 92421032 A G SNP CDK6 ENST00000265734 human ensembl 70_37 -1 known intronic c.234-16887 e2-16887 0.000 - - - no_errors CDK6 HGNC ENSG00000105810 tier4 1228 0 0 1820 2 0.109709270433352 487 0 0 7 92576855 92576855 T G SNP ENSG00000237819 ENST00000419668 human ensembl 70_37 +1 known 3_prime_flanking_region c.*30367 NULL 0.004 - - - no_errors AC002454.1 Clone_based_vega_gene ENSG00000237819 tier3 1654 1 0.0604229607250755 1190 983 45.2369995398067 590 122 17.0868347338936 7 92693522 92693522 T C SNP SAMD9 ENST00000379958 human ensembl 70_37 -1 known 3_prime_flanking_region c.*37119 NULL 0.171 - - - no_errors SAMD9 HGNC ENSG00000205413 tier4 977 0 0 1401 3 0.213675213675214 517 3 0.576923076923077 7 92955877 92955877 A C SNP CCDC132 ENST00000305866 human ensembl 70_37 +1 known intronic c.1977+2833 e21+2833 0.913 - - - no_errors CCDC132 HGNC ENSG00000004766 tier3 1270 0 0 1720 1 0.0581057524694945 546 7 1.26582278481013 7 94472044 94472044 G A SNP ENSG00000222220 ENST00000410288 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*40920 NULL 0.009 - - - no_errors 7SK RFAM ENSG00000222220 tier4 1048 0 0 1299 177 11.9837508463101 477 2 0.417536534446764 7 94499923 94499923 G A SNP PPP1R9A ENST00000289495 human ensembl 70_37 +1 known 5_prime_flanking_region c.-39503 NULL 0.358 - - - no_errors PPP1R9A HGNC ENSG00000158528 tier4 787 0 0 532 523 49.5734597156398 439 105 19.1605839416058 7 95041948 95041948 T A SNP PON2 ENST00000536183 human ensembl 70_37 -1 known intronic c.265-159 e4-159 0.000 - - - no_errors PON2 HGNC ENSG00000105854 tier3 1384 0 0 1975 5 0.252397778899546 726 2 0.274725274725275 7 95228392 95228392 T G SNP ENSG00000231170 ENST00000416502 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors AC002451.3 Clone_based_vega_gene ENSG00000231170 tier3 1301 0 0 1792 4 0.22271714922049 587 3 0.508474576271186 7 96014142 96014142 G A SNP ENSG00000207115 ENST00000384387 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*43584 NULL 0.031 - - - no_errors U6 RFAM ENSG00000207115 tier3 782 0 0 595 477 44.4547996272134 336 47 12.2715404699739 7 96876555 96876555 A T SNP ENSG00000224475 ENST00000429766 human ensembl 70_37 -1 known 5_prime_flanking_region c.-45760 NULL 0.084 - - - no_coding_region:pseudogene AC073900.4 Clone_based_vega_gene ENSG00000224475 tier4 827 0 0 1131 2 0.176522506619594 452 0 0 7 96915350 96915350 C T SNP ENSG00000221192 ENST00000408265 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*5476 NULL 0.001 - - - no_errors AC004745.1 Clone_based_ensembl_gene ENSG00000221192 tier3 975 0 0 1420 2 0.140646976090014 412 0 0 7 98126007 98126007 T G SNP ENSG00000223402 ENST00000441836 human ensembl 70_37 -1 known 5_prime_flanking_region c.-17470 NULL 0.000 - - - no_coding_region:pseudogene AC074121.4 Clone_based_vega_gene ENSG00000223402 tier3 1336 2 0.149476831091181 1072 988 47.9146459747818 599 108 15.2758132956153 7 99678944 99678944 T C SNP ZNF3 ENST00000299667 human ensembl 70_37 -1 known intronic c.1+314 e0+314 0.274 - - - no_errors ZNF3 HGNC ENSG00000166526 tier2 588 0 0 479 424 46.9545957918051 296 82 21.6931216931217 7 101245545 101245545 G A SNP LOC100506527 ENST00000434537 human ensembl 70_37 -1 known 5_prime_flanking_region c.-33289 NULL 0.001 - - - no_errors RP5-1059M17.1 Clone_based_vega_gene ENSG00000233123 tier4 405 0 0 363 272 42.8346456692913 207 60 22.4719101123595 7 102916673 102916673 T G SNP DPY19L2P2 ENST00000312132 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 tier4 2423 0 0 3789 4 0.105401844532279 886 6 0.671140939597315 7 103669857 103669857 A G SNP RELN ENST00000424685 human ensembl 70_37 -1 known 5_prime_flanking_region c.-40054 NULL 0.953 - - - no_errors RELN HGNC ENSG00000189056 tier4 1543 0 0 1946 57 2.84431137724551 773 0 0 7 104252146 104252146 A T SNP LHFPL3 ENST00000535008 human ensembl 70_37 +1 known intronic c.461-11305 e3-11305 0.003 - - - no_errors LHFPL3 HGNC ENSG00000187416 tier3 941 0 0 621 552 47.0588235294118 424 79 15.7057654075547 7 104270590 104270590 A G SNP LHFPL3 ENST00000535008 human ensembl 70_37 +1 known intronic c.481+7119 e3+7119 0.004 - - - no_errors LHFPL3 HGNC ENSG00000187416 tier3 1435 0 0 2049 2 0.0975134080936129 598 0 0 7 104913864 104913864 C T SNP SRPK2 ENST00000393651 human ensembl 70_37 -1 known intronic c.72-69632 e3-69632 0.000 - - - no_errors SRPK2 HGNC ENSG00000135250 tier4 1169 0 0 1642 4 0.242865816636308 573 2 0.346620450606586 7 105556842 105556842 C T SNP CDHR3 ENST00000488386 human ensembl 70_37 +1 known intronic c.1+39139 e0+39139 0.263 - - - no_errors CDHR3 HGNC ENSG00000128536 tier4 827 0 0 563 485 46.2786259541985 344 64 15.6862745098039 7 106769426 106769426 A C SNP PRKAR2B ENST00000265717 human ensembl 70_37 +1 known intronic c.480+686 e4+686 0.000 - - - no_errors PRKAR2B HGNC ENSG00000005249 tier3 699 0 0 1031 2 0.193610842207164 359 0 0 7 106829625 106829625 A G SNP HBP1 ENST00000222574 human ensembl 70_37 +1 known intronic c.766-112 e6-112 0.001 - - - no_errors HBP1 HGNC ENSG00000105856 tier4 998 0 0 1431 2 0.139372822299652 467 0 0 7 107640641 107640641 C A SNP LAMB1 ENST00000222399 human ensembl 70_37 -1 known intronic c.213+1362 e2+1362 1.000 - - - no_errors LAMB1 HGNC ENSG00000091136 tier3 993 0 0 1412 8 0.562983814215341 530 8 1.48423005565863 7 108239615 108239615 T C SNP ENSG00000225647 ENST00000440208 human ensembl 70_37 +1 known intronic c.NULL NULL 1.000 - - - no_errors AC005487.2 Clone_based_vega_gene ENSG00000225647 tier2 1042 0 0 1405 2 0.142146410803127 453 1 0.220264317180617 7 108342835 108342835 G T SNP - - - - - - - - - - - - - - - - - - tier3 1501 0 0 1972 3 0.151898734177215 605 0 0 7 108414730 108414730 C T SNP - - - - - - - - - - - - - - - - - - tier4 848 0 0 1107 3 0.27027027027027 410 2 0.480769230769231 7 108538136 108538136 A G SNP ENSG00000229603 ENST00000413406 human ensembl 70_37 +1 known 5_prime_flanking_region c.-11374 NULL 0.028 - - - no_errors AC004014.3 Clone_based_vega_gene ENSG00000229603 tier4 3424 0 0 4786 2 0.0417623721027354 1096 0 0 7 109121280 109121280 G T SNP ENSG00000234273 ENST00000412410 human ensembl 70_37 -1 known 3_prime_flanking_region c.*40758 NULL 0.000 - - - no_errors AC073071.1 Clone_based_vega_gene ENSG00000234273 tier3 1491 0 0 1946 4 0.205023065094823 616 2 0.323624595469256 7 109799233 109799233 G A SNP - - - - - - - - - - - - - - - - - - tier4 696 0 0 403 439 52.0759193357058 239 82 25.0764525993884 7 110075135 110075135 A G SNP ENSG00000226965 ENST00000435466 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors AC003088.1 Clone_based_vega_gene ENSG00000226965 tier3 969 2 0.205973223480947 680 594 46.6248037676609 417 130 23.6794171220401 7 110315017 110315017 T C SNP IMMP2L ENST00000331762 human ensembl 70_37 -1 known intronic c.409-11240 e5-11240 0.001 - - - no_errors IMMP2L HGNC ENSG00000184903 tier3 671 0 0 821 4 0.484848484848485 301 0 0 7 111421244 111421244 A C SNP DOCK4 ENST00000428084 human ensembl 70_37 -1 known intronic c.3585+1676 e35+1676 0.000 - - - no_errors DOCK4 HGNC ENSG00000128512 tier3 1833 0 0 2531 3 0.118389897395422 906 0 0 7 112382699 112382699 A G SNP MIPEPP1 ENST00000413533 human ensembl 70_37 -1 known 5_prime_flanking_region c.-3951 NULL 0.001 - - - no_coding_region:pseudogene MIPEPP1 HGNC ENSG00000225358 tier3 784 0 0 985 3 0.303643724696356 425 0 0 7 114779276 114779276 T G SNP ENSG00000233607 ENST00000419883 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors AC068610.5 Clone_based_vega_gene ENSG00000233607 tier3 1410 0 0 2059 2 0.0970402717127608 612 2 0.325732899022801 7 116895701 116895701 C G SNP ENSG00000238202 ENST00000436097 human ensembl 70_37 +1 known 5_prime_flanking_region c.-45214 NULL 0.001 - - - no_errors AC002465.2 Clone_based_vega_gene ENSG00000238202 tier4 480 0 0 576 2 0.345423143350604 191 3 1.54639175257732 7 117790191 117790191 A G SNP NAA38 ENST00000249299 human ensembl 70_37 +1 known 5_prime_flanking_region c.-34087 NULL 0.000 - - - no_errors NAA38 HGNC ENSG00000128534 tier4 1190 0 0 1763 3 0.169875424688562 446 1 0.223713646532438 7 117906914 117906914 A C SNP ANKRD7 ENST00000357099 human ensembl 70_37 +1 known 3_prime_flanking_region c.*26899 NULL 0.024 - - - no_errors ANKRD7 HGNC ENSG00000106013 tier3 1451 0 0 2069 3 0.144648023143684 536 1 0.186219739292365 7 118622322 118622322 A C SNP ENSG00000230520 ENST00000429245 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31009 NULL 0.019 - - - no_coding_region:pseudogene RP11-533K11.1 Clone_based_vega_gene ENSG00000230520 tier4 1051 0 0 1400 3 0.213827512473272 440 3 0.677200902934537 7 119303951 119303951 A G SNP ENSG00000225546 ENST00000431071 human ensembl 70_37 -1 known 3_prime_flanking_region c.*40659 NULL 0.271 - - - no_errors RP11-328J2.1 Clone_based_vega_gene ENSG00000225546 tier4 1074 0 0 1639 2 0.12187690432663 569 0 0 7 119579151 119579151 G A SNP ENSG00000225546 ENST00000426413 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31722 NULL 0.021 - - - no_errors RP11-328J2.1 Clone_based_vega_gene ENSG00000225546 tier4 1201 0 0 1428 3 0.209643605870021 447 0 0 7 119760003 119760003 A T SNP ENSG00000233969 ENST00000421825 human ensembl 70_37 +1 known 5_prime_flanking_region c.-48396 NULL 0.215 - - - no_errors RP5-1006K12.1 Clone_based_vega_gene ENSG00000233969 tier4 1234 0 0 919 696 43.0959752321981 510 119 18.8589540412044 7 120069032 120069032 C T SNP KCND2 ENST00000331113 human ensembl 70_37 +1 known intronic c.1115+153231 e1+153231 0.000 - - - no_errors KCND2 HGNC ENSG00000184408 tier3 1549 1 0.0645161290322581 1058 945 47.1556886227545 666 151 18.4371184371184 7 120292425 120292425 G A SNP KCND2 ENST00000331113 human ensembl 70_37 +1 known intronic c.1116-80532 e2-80532 0.001 - - - no_errors KCND2 HGNC ENSG00000184408 tier4 984 0 0 1377 1 0.0725163161711385 396 107 21.272365805169 7 120482395 120482395 C A SNP TSPAN12 ENST00000222747 human ensembl 70_37 -1 known intronic c.67-2232 e2-2232 0.004 - - - no_errors TSPAN12 HGNC ENSG00000106025 tier4 1110 0 0 1352 132 8.87096774193548 529 6 1.11317254174397 7 121653945 121653945 T G SNP PTPRZ1 ENST00000393386 human ensembl 70_37 +1 known splice_site c.4843+2 e12+2 1.000 - - - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 1120 0 0 1671 4 0.238663484486874 502 2 0.396825396825397 7 122230051 122230051 C T SNP CADPS2 ENST00000449022 human ensembl 70_37 -1 known intronic c.1224-8707 e7-8707 0.002 - - - no_errors CADPS2 HGNC ENSG00000081803 tier3 1212 0 0 1652 27 1.60618679357525 512 116 18.4126984126984 7 124524738 124524738 T C SNP POT1 ENST00000357628 human ensembl 70_37 -1 known intronic c.124+7582 e2+7582 0.001 - - - no_errors POT1 HGNC ENSG00000128513 tier3 643 0 0 828 2 0.240963855421687 299 0 0 7 125721583 125721583 T A SNP ENSG00000221418 ENST00000408491 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*41229 NULL 0.001 - - - no_errors AC003968.1 Clone_based_ensembl_gene ENSG00000221418 tier3 967 0 0 597 489 45.0276243093923 397 73 15.4661016949153 7 125753455 125753455 A T SNP - - - - - - - - - - - - - - - - - - tier3 1144 0 0 809 667 45.189701897019 427 67 13.5627530364372 7 125863403 125863403 G T SNP - - - - - - - - - - - - - - - - - - tier4 196 0 0 221 2 0.896860986547085 153 0 0 7 126682420 126682420 T G SNP GRM8 ENST00000339582 human ensembl 70_37 -1 known intronic c.727+64130 e2+64130 0.000 - - - no_errors GRM8 HGNC ENSG00000179603 tier4 848 0 0 1108 2 0.18018018018018 407 0 0 7 126741396 126741396 G A SNP GRM8 ENST00000339582 human ensembl 70_37 -1 known intronic c.727+5154 e2+5154 0.496 - - - no_errors GRM8 HGNC ENSG00000179603 tier3 928 1 0.107181136120043 634 465 42.3111919927207 417 78 15.7575757575758 7 127459606 127459606 T G SNP SND1 ENST00000354725 human ensembl 70_37 +1 known intronic c.1242+11979 e11+11979 0.000 - - - no_errors SND1 HGNC ENSG00000197157 tier3 566 0 0 904 5 0.55005500550055 331 5 1.4792899408284 7 129227660 129227660 A C SNP NRF1 ENST00000223190 human ensembl 70_37 +1 known 5_prime_flanking_region c.-69532 NULL 0.000 - - - no_errors NRF1 HGNC ENSG00000106459 tier3 1592 0 0 2514 5 0.198491464867011 628 1 0.158982511923688 7 129418746 129418746 C A SNP MIR96 ENST00000362288 human ensembl 70_37 -1 known 5_prime_flanking_region c.-4137 NULL 0.000 - - - no_errors MIR96 HGNC ENSG00000199158 tier2 404 0 0 312 258 45.2631578947368 197 55 21.8253968253968 7 129941102 129941102 T G SNP CPA4 ENST00000222482 human ensembl 70_37 +1 known intronic c.384+348 e4+348 0.123 - - - no_errors CPA4 HGNC ENSG00000128510 tier3 1528 0 0 2168 2 0.0921658986175115 763 0 0 7 130100897 130100897 G T SNP CEP41 ENST00000223208 human ensembl 70_37 -1 known 5_prime_flanking_region c.-20090 NULL 0.003 - - - no_errors CEP41 HGNC ENSG00000106477 tier3 785 0 0 1041 1 0.0958772770853308 407 3 0.731707317073171 7 130738533 130738533 C T SNP ENSG00000231721 ENST00000423414 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors AC058791.2 Clone_based_vega_gene ENSG00000231721 tier3 966 0 0 1438 3 0.208188757807078 414 1 0.239234449760766 7 131865146 131865146 A C SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known intronic c.3639+199 e18+199 0.002 - - - no_errors PLXNA4 HGNC ENSG00000221866 tier2 368 0 0 379 3 0.785340314136126 186 2 1.06382978723404 7 132422683 132422683 T C SNP LOC100506937 ENST00000436379 human ensembl 70_37 +1 known 5_prime_flanking_region c.-21047 NULL 0.001 - - - no_errors AC009365.4 Clone_based_vega_gene ENSG00000225881 tier4 664 0 0 888 2 0.224719101123596 329 3 0.903614457831325 7 133482118 133482118 T A SNP EXOC4 ENST00000253861 human ensembl 70_37 +1 known intronic c.1515-19960 e11-19960 0.001 - - - no_errors EXOC4 HGNC ENSG00000131558 tier3 1385 0 0 1831 1 0.0545851528384279 676 4 0.587371512481645 7 133706712 133706712 G A SNP EXOC4 ENST00000253861 human ensembl 70_37 +1 known intronic c.2687+14124 e17+14124 0.567 - - - no_errors EXOC4 HGNC ENSG00000131558 tier3 923 0 0 1230 1 0.08110300081103 360 3 0.817438692098093 7 133921547 133921547 A G SNP LRGUK ENST00000285928 human ensembl 70_37 +1 known intronic c.1984-10761 e17-10761 0.026 - - - no_errors LRGUK HGNC ENSG00000155530 tier3 980 0 0 1427 2 0.139958012596221 446 1 0.223713646532438 7 135488100 135488100 A C SNP ENSG00000222219 ENST00000410287 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-5243 NULL 0.004 - - - no_errors AC091736.1 Clone_based_ensembl_gene ENSG00000222219 tier4 740 0 0 1091 1 0.0915750915750916 447 5 1.10619469026549 7 135708304 135708304 A C SNP MTPN ENST00000393085 human ensembl 70_37 -1 known 5_prime_flanking_region c.-46456 NULL 0.023 - - - no_errors MTPN HGNC ENSG00000105887 tier3 365 0 0 515 3 0.579150579150579 185 2 1.06951871657754 7 136312561 136312561 T C SNP - - - - - - - - - - - - - - - - - - tier4 1538 0 0 1995 3 0.15015015015015 552 1 0.180831826401447 7 136456684 136456684 A G SNP LOC349160 ENST00000586239 human ensembl 70_37 -1 known intronic c.NULL NULL 0.205 - - - no_errors AC009264.1 Clone_based_vega_gene ENSG00000234352 tier4 1091 0 0 1510 2 0.132187706543291 342 0 0 7 136839138 136839138 C G SNP LOC349160 ENST00000425981 human ensembl 70_37 -1 known intronic c.NULL NULL 0.003 - - - no_errors AC009264.1 Clone_based_vega_gene ENSG00000234352 tier4 922 0 0 1227 2 0.16273393002441 367 0 0 7 137320248 137320248 C T SNP DGKI ENST00000424189 human ensembl 70_37 -1 known intronic c.804+9970 e6+9970 0.003 - - - no_errors DGKI HGNC ENSG00000157680 tier4 1340 1 0.0744601638123604 1025 803 43.9277899343545 560 134 19.3083573487032 7 138643159 138643159 G A SNP KIAA1549 ENST00000422774 human ensembl 70_37 -1 known intronic c.187+22670 e1+22670 0.000 - - - no_errors KIAA1549 HGNC ENSG00000122778 tier3 928 1 0.107411385606874 700 584 45.4828660436137 406 96 19.009900990099 7 138648863 138648863 G A SNP KIAA1549 ENST00000422774 human ensembl 70_37 -1 known intronic c.187+16966 e1+16966 0.000 - - - no_errors KIAA1549 HGNC ENSG00000122778 tier4 843 0 0 1093 121 9.94248151191454 505 4 0.785854616895874 7 139211302 139211302 G A SNP CLEC2L ENST00000422142 human ensembl 70_37 +1 known intronic c.190+2439 e1+2439 0.000 - - - no_errors CLEC2L HGNC ENSG00000236279 tier3 695 0 0 524 396 43.0434782608696 359 79 18.0365296803653 7 139898583 139898583 C T SNP JHDM1D ENST00000397560 human ensembl 70_37 -1 known 5_prime_flanking_region c.-21846 NULL 0.012 - - - no_errors JHDM1D HGNC ENSG00000006459 tier4 883 0 0 1277 4 0.312256049960968 489 0 0 7 139933774 139933774 A C SNP ENSG00000199283 ENST00000362413 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-7896 NULL 0.040 - - - no_errors U1 RFAM ENSG00000199283 tier4 1359 0 0 2071 1 0.0482625482625483 479 4 0.824742268041237 7 140805451 140805451 G A SNP TMEM178B ENST00000565468 human ensembl 70_37 +1 putative intronic c.382+30959 e1+30959 0.002 - - - no_errors TMEM178B HGNC ENSG00000261115 tier3 996 1 0.100200400801603 1292 33 2.49056603773585 478 92 16.0278745644599 7 141737859 141737859 A C SNP MGAM ENST00000549489 human ensembl 70_37 +1 known intronic c.2232-472 e18-472 0.011 - - - no_errors MGAM HGNC ENSG00000257335 tier4 471 0 0 572 2 0.348432055749129 227 0 0 7 141921985 141921985 C T SNP ENSG00000257743 ENST00000550494 human ensembl 70_37 +1 known 3_prime_flanking_region c.*13943 NULL 0.034 - - - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 tier3 963 0 0 1315 4 0.303030303030303 444 1 0.223713646532438 7 141982273 141982273 T G SNP PRSS58 ENST00000547058 human ensembl 70_37 -1 known 5_prime_flanking_region c.-24746 NULL 0.002 - - - no_errors PRSS58 HGNC ENSG00000258223 tier3 394 0 0 514 2 0.387596899224806 247 0 0 7 142229921 142229921 C T SNP TRBV11-2 ENST00000471935 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31852 NULL 0.000 - - - no_errors TRBV11-2 HGNC ENSG00000241657 tier4 641 0 0 756 116 13.302752293578 316 0 0 7 142340068 142340068 T G SNP TRBV23-1 ENST00000390396 human ensembl 70_37 +1 known 5_prime_flanking_region c.-13400 NULL 0.002 - - - no_stop_codon:bad_bp_length_for_coding_region TRBV23-1 HGNC ENSG00000211749 tier2 781 0 0 950 3 0.314795383001049 360 0 0 7 142929247 142929247 A C SNP GSTK1 ENST00000479303 human ensembl 70_37 +1 known 5_prime_flanking_region c.-31360 NULL 0.000 - - - no_errors GSTK1 HGNC ENSG00000197448 tier4 1277 0 0 1761 3 0.170068027210884 598 2 0.33112582781457 7 143971216 143971216 T C SNP ENSG00000204959 ENST00000378112 human ensembl 70_37 -1 known splice_site c.NULL NULL 0.986 - - - no_coding_region:pseudogene RP4-798C17.5 Clone_based_vega_gene ENSG00000204959 tier1 2774 0 0 3665 3 0.0817884405670665 1581 1 0.0632111251580278 7 144165611 144165611 G T SNP TPK1 ENST00000360057 human ensembl 70_37 -1 known intronic c.614-14855 e8-14855 0.000 - - - no_errors TPK1 HGNC ENSG00000196511 tier3 1261 0 0 1665 3 0.179856115107914 624 0 0 7 144669652 144669652 C T SNP ENSG00000214035 ENST00000423226 human ensembl 70_37 +1 known 5_prime_flanking_region c.-37402 NULL 0.000 - - - no_coding_region:pseudogene AC073310.4 Clone_based_vega_gene ENSG00000214035 tier4 1704 1 0.0586166471277843 1132 979 46.3322290582111 658 133 16.5628891656289 7 145291290 145291290 C T SNP ENSG00000231839 ENST00000456901 human ensembl 70_37 +1 known 3_prime_flanking_region c.*9380 NULL 0.000 - - - no_coding_region:pseudogene AC073055.2 Clone_based_vega_gene ENSG00000231839 tier4 1082 1 0.0923361034164358 775 660 45.9610027855153 502 62 10.9154929577465 7 145400569 145400569 T G SNP ENSG00000230746 ENST00000422084 human ensembl 70_37 -1 known 5_prime_flanking_region c.-22107 NULL 0.028 - - - no_errors AC006007.1 Clone_based_vega_gene ENSG00000230746 tier4 1264 0 0 1477 3 0.202702702702703 537 0 0 7 145641890 145641890 T C SNP - - - - - - - - - - - - - - - - - - tier4 751 4 0.529801324503311 575 409 41.5650406504065 352 66 15.7142857142857 7 146074680 146074680 A C SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known intronic c.97+260615 e1+260615 0.000 - - - no_errors CNTNAP2 HGNC ENSG00000174469 tier4 628 0 0 988 1 0.101112234580384 380 4 1.04166666666667 7 146415470 146415470 G T SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known intronic c.98-55893 e2-55893 0.000 - - - no_errors CNTNAP2 HGNC ENSG00000174469 tier3 637 0 0 878 1 0.113765642775882 296 3 0.996677740863787 7 148057889 148057889 C T SNP CNTNAP2 ENST00000361727 human ensembl 70_37 +1 known intronic c.3476-22852 e22-22852 0.000 - - - no_errors CNTNAP2 HGNC ENSG00000174469 tier3 918 0 0 1235 6 0.482703137570394 474 0 0 7 148832304 148832304 A C SNP ZNF398 ENST00000426851 human ensembl 70_37 +1 known intronic c.1+6268 e0+6268 0.311 - - - no_errors ZNF398 HGNC ENSG00000197024 tier4 771 0 0 1180 2 0.169061707523246 442 0 0 7 151205499 151205499 G T SNP RHEB ENST00000262187 human ensembl 70_37 -1 known intronic c.52+11047 e1+11047 0.000 - - - no_errors RHEB HGNC ENSG00000106615 tier4 477 0 0 602 1 0.165562913907285 274 8 2.83687943262411 7 152717706 152717706 T A SNP ENSG00000265275 ENST00000584395 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-36116 NULL 0.005 - - - no_errors AF104455.1 Clone_based_ensembl_gene ENSG00000265275 tier4 993 0 0 696 522 42.8571428571429 389 99 20.2868852459016 7 153097875 153097875 C T SNP ENSG00000234722 ENST00000454441 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors AC073236.3 Clone_based_vega_gene ENSG00000234722 tier3 635 0 0 393 383 49.3556701030928 262 82 23.8372093023256 7 153576127 153576127 T C SNP DPP6 ENST00000404039 human ensembl 70_37 +1 putative 5_prime_flanking_region c.-8642 NULL 0.001 - - - no_errors DPP6 HGNC ENSG00000130226 tier3 1883 0 0 2644 2 0.0755572346052134 866 0 0 7 154078137 154078137 G A SNP DPP6 ENST00000377770 human ensembl 70_37 +1 known intronic c.244-65162 e2-65162 0.000 - - - no_errors DPP6 HGNC ENSG00000130226 tier3 569 0 0 361 351 49.2977528089888 222 62 21.830985915493 7 154487935 154487935 C T SNP DPP6 ENST00000377770 human ensembl 70_37 +1 known intronic c.762+26784 e7+26784 0.000 - - - no_errors DPP6 HGNC ENSG00000130226 tier3 632 2 0.315457413249211 441 377 46.031746031746 273 49 15.1234567901235 7 154596117 154596117 G T SNP DPP6 ENST00000377770 human ensembl 70_37 +1 known intronic c.1499+452 e14+452 0.000 - - - no_errors DPP6 HGNC ENSG00000130226 tier4 1341 1 0.0745156482861401 970 764 44.0345821325648 490 104 17.5084175084175 7 155780486 155780486 A C SNP ENSG00000204876 ENST00000377722 human ensembl 70_37 +1 putative 3_prime_flanking_region c.*22890 NULL 0.001 - - - no_errors AC021218.2 Clone_based_vega_gene ENSG00000204876 tier3 456 0 0 534 4 0.743494423791822 265 1 0.37593984962406 7 156554868 156554868 C T SNP LMBR1 ENST00000354505 human ensembl 70_37 -1 known missense c.644 p.R215H 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1 HGNC ENSG00000105983 tier1 180 0 0 138 0 0 174 11 5.95 7 157379503 157379503 C T SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known intronic c.2565+8427 e17+8427 0.082 - - - no_errors PTPRN2 HGNC ENSG00000155093 tier3 617 1 0.161812297734628 510 211 29.2649098474341 296 0 0 7 157492638 157492638 A T SNP PTPRN2 ENST00000404321 human ensembl 70_37 -1 known intronic c.1858-17009 e13-17009 0.000 - - - no_errors PTPRN2 HGNC ENSG00000155093 tier3 773 1 0.129198966408269 484 374 43.5897435897436 361 61 14.3867924528302 7 158716322 158716322 G A SNP WDR60 ENST00000407559 human ensembl 70_37 +1 known missense c.2155 p.G719S 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 tier1 404 0 0 336 13 3.72 335 0 0 7 158716322 158716322 G A SNP WDR60 ENST00000407559 human ensembl 70_37 +1 known missense c.2155 p.G719S 0.998 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 tier1 504 0 0 668 13 1.90895741556534 295 0 0 8 1097540 1097540 T C SNP ENSG00000254269 ENST00000520524 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors CTD-2281E23.2 Clone_based_vega_gene ENSG00000254269 tier4 375 0 0 426 7 1.61662817551963 185 2 1.06951871657754 8 1857049 1857049 G T SNP ARHGEF10 ENST00000398564 human ensembl 70_37 +1 known intronic c.2043-412 e18-412 0.000 - - - no_errors ARHGEF10 HGNC ENSG00000104728 tier3 752 0 0 1021 2 0.195503421309873 502 0 0 8 3826822 3826822 T G SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known intronic c.818+28603 e5+28603 0.001 - - - no_errors CSMD1 HGNC ENSG00000183117 tier3 665 0 0 780 2 0.255427841634738 330 3 0.900900900900901 8 4541186 4541186 T C SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known intronic c.86-46106 e2-46106 0.000 - - - no_errors CSMD1 HGNC ENSG00000183117 tier3 709 0 0 898 3 0.332963374028857 322 0 0 8 4877789 4877789 T G SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known 5_prime_flanking_region c.-25851 NULL 0.000 - - - no_errors CSMD1 HGNC ENSG00000183117 tier3 872 0 0 1305 2 0.152905198776758 419 0 0 8 5077084 5077084 C A SNP - - - - - - - - - - - - - - - - - - tier3 927 0 0 1147 2 0.174064403829417 406 2 0.48780487804878 8 6591820 6591820 C T SNP AGPAT5 ENST00000285518 human ensembl 70_37 +1 known intronic c.495+1649 e4+1649 0.000 - - - no_errors AGPAT5 HGNC ENSG00000155189 tier4 1439 0 0 1870 3 0.16008537886873 696 0 0 8 6677323 6677323 A C SNP XKR5 ENST00000405979 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors XKR5 HGNC ENSG00000186530 tier3 728 0 0 996 3 0.3003003003003 349 0 0 8 9830435 9830435 T G SNP ENSG00000238496 ENST00000458859 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-41102 NULL 0.747 - - - no_errors snoU13 RFAM ENSG00000238496 tier3 678 0 0 934 2 0.213219616204691 319 0 0 8 10685440 10685440 A C SNP SOX7 ENST00000553390 human ensembl 70_37 -1 known intronic c.302-1686 e5-1686 0.023 - - - no_errors SOX7 HGNC ENSG00000171056 tier4 1132 0 0 1443 5 0.345303867403315 599 0 0 8 10729327 10729327 T G SNP SOX7 ENST00000553390 human ensembl 70_37 -1 known 5_prime_flanking_region c.-32061 NULL 0.000 - - - no_errors SOX7 HGNC ENSG00000171056 tier3 971 0 0 1275 2 0.156494522691706 412 0 0 8 11858946 11858946 T G SNP DEFB136 ENST00000382209 human ensembl 70_37 -1 known 5_prime_flanking_region c.-26838 NULL 0.112 - - - no_errors DEFB136 HGNC ENSG00000205884 tier3 1239 0 0 1791 2 0.11154489682097 556 2 0.3584229390681 8 12720914 12720914 A G SNP ENSG00000264463 ENST00000584104 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-42433 NULL 0.018 - - - no_errors AC090133.1 Clone_based_ensembl_gene ENSG00000264463 tier3 1181 0 0 935 774 45.2896430661205 550 132 19.3548387096774 8 16342052 16342052 T G SNP MSR1 ENST00000518343 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors MSR1 HGNC ENSG00000038945 tier4 846 0 0 1159 2 0.172265288544358 431 0 0 8 17132119 17132119 A C SNP VPS37A ENST00000324849 human ensembl 70_37 +1 known intronic c.417-123 e5-123 0.000 - - - no_errors VPS37A HGNC ENSG00000155975 tier3 842 0 0 1173 2 0.170068027210884 369 4 1.07238605898123 8 18153047 18153047 G T SNP - - - - - - - - - - - - - - - - - - tier3 765 0 0 1050 2 0.189933523266857 365 3 0.806451612903226 8 18228228 18228228 G C SNP AACP ENST00000523491 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*18228228 NULL 1.000 - - - no_coding_region:pseudogene AACP HGNC ENSG00000253937 tier3 1115 0 0 1414 39 2.68410185822436 536 0 0 8 21236805 21236805 G T SNP - - - - - - - - - - - - - - - - - - tier4 1118 1 0.0892857142857143 742 602 44.7583643122677 463 84 15.3564899451554 8 22485165 22485165 A C SNP BIN3 ENST00000276416 human ensembl 70_37 -1 known intronic c.338+2312 e6+2312 0.000 - - - no_errors BIN3 HGNC ENSG00000147439 tier3 121 0 0 193 3 1.53061224489796 62 2 3.125 8 24608694 24608694 G C SNP ENSG00000253535 ENST00000519689 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-624C23.1 Clone_based_vega_gene ENSG00000253535 tier4 520 0 0 318 243 43.0088495575221 259 55 17.2955974842767 8 25435842 25435842 G A SNP - - - - - - - - - - - - - - - - - - tier3 487 0 0 642 8 1.23076923076923 257 0 0 8 25785753 25785753 C T SNP EBF2 ENST00000520164 human ensembl 70_37 -1 known intronic c.552-19682 e7-19682 0.001 - - - no_errors EBF2 HGNC ENSG00000221818 tier3 1245 1 0.0802568218298555 886 716 44.6941323345818 367 92 19.8704103671706 8 25813230 25813230 C A SNP EBF2 ENST00000520164 human ensembl 70_37 -1 known intronic c.552-47159 e7-47159 0.000 - - - no_errors EBF2 HGNC ENSG00000221818 tier3 632 0 0 788 2 0.252844500632111 302 4 1.30718954248366 8 26527186 26527186 G T SNP DPYSL2 ENST00000311151 human ensembl 70_37 +1 known 3_prime_flanking_region c.*13964 NULL 0.005 - - - no_errors DPYSL2 HGNC ENSG00000092964 tier4 1341 1 0.0745156482861401 1116 794 41.5706806282722 496 115 18.7601957585644 8 26800899 26800899 T A SNP - - - - - - - - - - - - - - - - - - tier3 713 0 0 461 452 49.5071193866375 309 51 14.1666666666667 8 27649498 27649498 G A SNP ESCO2 ENST00000305188 human ensembl 70_37 +1 known missense c.1282 p.V428I 0.311 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 tier1 689 2 0.29 562 0 0 789 24 2.95 8 27658612 27658612 G T SNP ESCO2 ENST00000305188 human ensembl 70_37 +1 known intronic c.1673+1379 e9+1379 0.072 - - - no_errors ESCO2 HGNC ENSG00000171320 tier4 1267 0 0 1865 3 0.160599571734475 613 0 0 8 29894331 29894331 G A SNP TMEM66 ENST00000256255 human ensembl 70_37 -1 known 3_prime_flanking_region c.*27073 NULL 0.010 - - - no_errors TMEM66 HGNC ENSG00000133872 tier4 1690 1 0.0589622641509434 3008 8 0.264988406757204 483 7 1.42857142857143 8 30261182 30261182 T G SNP RBPMS ENST00000339877 human ensembl 70_37 +1 known intronic c.66+18508 e1+18508 0.931 - - - no_errors RBPMS HGNC ENSG00000157110 tier4 1089 0 0 883 702 44.2902208201893 564 75 11.7370892018779 8 30317914 30317914 A G SNP RBPMS ENST00000339877 human ensembl 70_37 +1 known intronic c.67-14381 e2-14381 0.000 - - - no_errors RBPMS HGNC ENSG00000157110 tier3 1403 0 0 2098 5 0.237755587256301 633 3 0.471698113207547 8 30471460 30471460 C A SNP GTF2E2 ENST00000355904 human ensembl 70_37 -1 known intronic c.366+665 e3+665 0.001 - - - no_errors GTF2E2 HGNC ENSG00000197265 tier3 811 0 0 1397 4 0.285510349750178 458 0 0 8 30759427 30759427 C A SNP TEX15 ENST00000518257 human ensembl 70_37 -1 known 5_prime_flanking_region c.-11305 NULL 0.000 - - - no_errors TEX15 HGNC ENSG00000133863 tier3 1451 0 0 2189 4 0.182232346241458 793 2 0.251572327044025 8 33761878 33761878 T C SNP ENSG00000253642 ENST00000523063 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-317N12.1 Clone_based_vega_gene ENSG00000253642 tier3 540 0 0 349 279 44.4267515923567 192 49 20.3319502074689 8 34031843 34031843 G A SNP ENSG00000254302 ENST00000518217 human ensembl 70_37 +1 known 5_prime_flanking_region c.-561 NULL 0.002 - - - no_errors RP11-431M3.1 Clone_based_vega_gene ENSG00000254302 tier3 951 0 0 785 315 27.6073619631902 426 0 0 8 34185255 34185255 T C SNP ENSG00000253108 ENST00000522460 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors RP1-84O15.2 Clone_based_vega_gene ENSG00000253108 tier3 919 0 0 1219 2 0.163800163800164 365 1 0.273224043715847 8 35206703 35206703 G T SNP UNC5D ENST00000404895 human ensembl 70_37 +1 known intronic c.103+113298 e1+113298 0.002 - - - no_errors UNC5D HGNC ENSG00000156687 tier4 1634 2 0.122249388753056 1405 613 30.3465346534653 754 2 0.264550264550265 8 36192389 36192389 C T SNP ENSG00000206871 ENST00000384144 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-25181 NULL 0.325 - - - no_errors U6 RFAM ENSG00000206871 tier4 1106 2 0.18034265103697 757 619 44.9854651162791 529 102 16.1648177496038 8 36254789 36254789 G A SNP - - - - - - - - - - - - - - - - - - tier4 1084 0 0 1379 1 0.072463768115942 508 6 1.16279069767442 8 36262741 36262741 G A SNP - - - - - - - - - - - - - - - - - - tier4 512 4 0.775193798449612 342 267 43.8423645320197 223 55 19.7841726618705 8 38029200 38029200 C A SNP LSM1 ENST00000311351 human ensembl 70_37 -1 known intronic c.115+283 e2+283 0.085 - - - no_errors LSM1 HGNC ENSG00000175324 tier4 1175 0 0 1889 3 0.158562367864693 492 2 0.402414486921529 8 38596031 38596031 A T SNP TACC1 ENST00000443286 human ensembl 70_37 +1 known intronic c.1-3838 e1-3838 0.002 - - - no_errors TACC1 HGNC ENSG00000147526 tier4 1341 0 0 1893 5 0.263435194942044 616 0 0 8 38631747 38631747 A C SNP TACC1 ENST00000443286 human ensembl 70_37 +1 known intronic c.23-13328 e2-13328 0.001 - - - no_errors TACC1 HGNC ENSG00000147526 tier4 350 0 0 419 2 0.475059382422803 155 0 0 8 39070078 39070078 T G SNP ADAM32 ENST00000379907 human ensembl 70_37 +1 known intronic c.1233+1235 e12+1235 0.001 - - - no_errors ADAM32 HGNC ENSG00000197140 tier4 778 0 0 1050 20 1.86741363211951 371 74 16.5178571428571 8 43097430 43097430 C T SNP VN1R46P ENST00000519939 human ensembl 70_37 -1 known 5_prime_flanking_region c.-21478 NULL 0.000 - - - no_coding_region:pseudogene VN1R46P HGNC ENSG00000253611 tier4 644 0 0 889 4 0.447427293064877 348 0 0 8 43097431 43097431 C G SNP VN1R46P ENST00000519939 human ensembl 70_37 -1 known 5_prime_flanking_region c.-21479 NULL 0.000 - - - no_coding_region:pseudogene VN1R46P HGNC ENSG00000253611 tier4 641 0 0 873 3 0.340136054421769 335 0 0 8 43613011 43613011 T G SNP - - - - - - - - - - - - - - - - - - tier4 1092 0 0 1592 3 0.188087774294671 524 0 0 8 43771118 43771118 C T SNP - - - - - - - - - - - - - - - - - - tier4 2365 2 0.0844594594594595 1973 1717 46.5185586561907 660 168 20.1923076923077 8 43837409 43837409 A C SNP - - - - - - - - - - - - - - - - - - tier4 2427 0 0 3966 2 0.0503905265810028 1074 2 0.185873605947955 8 46853270 46853270 T C SNP - - - - - - - - - - - - - - - - - - tier4 676 0 0 964 2 0.20703933747412 430 0 0 8 46890012 46890012 A G SNP - - - - - - - - - - - - - - - - - - tier4 1315 0 0 1962 2 0.10183299389002 745 1 0.134048257372654 8 46890016 46890016 A C SNP - - - - - - - - - - - - - - - - - - tier4 1340 0 0 1984 4 0.201207243460765 762 4 0.520833333333333 8 47886140 47886140 A C SNP MAPK6PS4 ENST00000517873 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-47886140 NULL 1.000 - - - no_coding_region:pseudogene MAPK6PS4 HGNC ENSG00000215179 tier3 641 0 0 901 2 0.221238938053097 334 4 1.17647058823529 8 48425914 48425914 T C SNP KIAA0146 ENST00000297423 human ensembl 70_37 +1 known intronic c.1097+72810 e8+72810 0.000 - - - no_errors KIAA0146 HGNC ENSG00000164808 tier3 1160 0 0 1780 3 0.168161434977578 523 0 0 8 49661562 49661562 T C SNP ENSG00000233858 ENST00000536671 human ensembl 70_37 +1 known intronic c.NULL NULL 0.009 - - - no_errors AC026904.1 Clone_based_vega_gene ENSG00000233858 tier4 1623 0 0 1151 931 44.6951512241959 598 125 17.2413793103448 8 50476195 50476195 A G SNP ENSG00000253206 ENST00000520800 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-19119 NULL 0.001 - - - no_errors RP11-738G5.2 Clone_based_vega_gene ENSG00000253206 tier4 1400 0 0 1899 4 0.210194429847609 539 0 0 8 50485167 50485167 A C SNP ENSG00000253206 ENST00000520800 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-28091 NULL 0.010 - - - no_errors RP11-738G5.2 Clone_based_vega_gene ENSG00000253206 tier3 1105 0 0 1398 3 0.214132762312634 441 3 0.672645739910314 8 52655132 52655132 C A SNP PXDNL ENST00000356297 human ensembl 70_37 -1 known intronic c.164+66609 e1+66609 0.004 - - - no_errors PXDNL HGNC ENSG00000147485 tier3 1183 0 0 855 770 47.3554735547355 391 84 17.4636174636175 8 53944132 53944132 A G SNP ENSG00000265835 ENST00000578249 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-36139 NULL 0.000 - - - no_errors AC009800.1 Clone_based_ensembl_gene ENSG00000265835 tier3 2207 2 0.0905387052965143 1554 1276 45.0405930109425 766 170 18.1236673773987 8 54469831 54469831 C T SNP LOC100507516 ENST00000426023 human ensembl 70_37 -1 known 5_prime_flanking_region c.-33340 NULL 0.002 - - - no_errors RP11-400K9.4 Clone_based_vega_gene ENSG00000237807 tier3 1011 1 0.0988142292490119 959 431 31.0071942446043 647 0 0 8 55221720 55221720 T C SNP RNU105C ENST00000362342 human ensembl 70_37 +1 known 5_prime_flanking_region c.-21527 NULL 0.000 - - - no_errors RNU105C HGNC ENSG00000199212 tier3 479 0 0 667 2 0.298953662182362 213 2 0.930232558139535 8 55454275 55454275 G A SNP ENSG00000254142 ENST00000518787 human ensembl 70_37 +1 known 5_prime_flanking_region c.-12868 NULL 0.118 - - - no_errors RP11-53M11.3 Clone_based_vega_gene ENSG00000254142 tier4 1370 0 0 1088 984 47.4903474903475 530 135 20.23988005997 8 55500744 55500744 G A SNP RP1 ENST00000220676 human ensembl 70_37 +1 known 5_prime_flanking_region c.-32783 NULL 0.000 - - - no_errors RP1 HGNC ENSG00000104237 tier3 1395 0 0 1000 829 45.3005464480874 542 125 18.7406296851574 8 55625316 55625316 A T SNP ENSG00000254608 ENST00000521465 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_coding_region:pseudogene RP11-56A10.1 Clone_based_vega_gene ENSG00000254608 tier4 1126 0 0 763 636 45.4285714285714 497 130 20.7336523125997 8 57719071 57719071 A G SNP - - - - - - - - - - - - - - - - - - tier4 715 0 0 562 468 45.3928225024248 268 84 23.8636363636364 8 58120913 58120913 T G SNP LOC100507651 ENST00000519241 human ensembl 70_37 +1 known intronic c.NULL NULL 0.016 - - - no_errors RP11-513O17.2 Clone_based_vega_gene ENSG00000253301 tier3 1849 0 0 2403 3 0.124688279301746 1338 0 0 8 59238737 59238737 T A SNP - - - - - - - - - - - - - - - - - - tier4 1613 0 0 2271 2 0.0879507475813544 689 2 0.288600288600289 8 60236267 60236267 T C SNP - - - - - - - - - - - - - - - - - - tier4 1109 0 0 1665 2 0.11983223487118 545 1 0.182481751824818 8 60978152 60978152 A C SNP ENSG00000254775 ENST00000531077 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-27P7.1 Clone_based_vega_gene ENSG00000254775 tier3 503 0 0 673 4 0.590841949778434 267 0 0 8 61037220 61037220 G A SNP ENSG00000254954 ENST00000531560 human ensembl 70_37 +1 known 5_prime_flanking_region c.-17160 NULL 0.001 - - - no_coding_region:pseudogene RP11-27P7.2 Clone_based_vega_gene ENSG00000254954 tier3 1467 0 0 1098 893 44.8068238835926 438 101 18.7384044526902 8 61663866 61663866 A C SNP CHD7 ENST00000307121 human ensembl 70_37 +1 known intronic c.1665+8210 e1+8210 0.000 - - - no_errors CHD7 HGNC ENSG00000171316 tier3 2197 0 0 3350 5 0.14903129657228 828 0 0 8 61898922 61898922 C G SNP LOC100130298 ENST00000525556 human ensembl 70_37 -1 known 5_prime_flanking_region c.-18588 NULL 0.083 - - - no_errors AC022182.3 Clone_based_vega_gene ENSG00000254802 tier3 768 0 0 1162 8 0.683760683760684 357 0 0 8 62144587 62144587 T G SNP CLVS1 ENST00000522621 human ensembl 70_37 +1 known intronic c.1-67649 e1-67649 0.088 - - - no_stop_codon CLVS1 HGNC ENSG00000177182 tier4 926 0 0 1190 3 0.251046025104603 474 0 0 8 62567279 62567279 A C SNP ASPH ENST00000379454 human ensembl 70_37 -1 known intronic c.323-1060 e4-1060 0.000 - - - no_errors ASPH HGNC ENSG00000198363 tier3 843 0 0 1219 3 0.245499181669394 444 2 0.448430493273543 8 62925028 62925028 C T SNP - - - - - - - - - - - - - - - - - - tier4 1836 0 0 1269 995 43.9487632508834 639 146 18.5987261146497 8 63238242 63238242 A G SNP NKAIN3 ENST00000328472 human ensembl 70_37 +1 known intronic c.54+76556 e1+76556 0.208 - - - no_errors NKAIN3 HGNC ENSG00000185942 tier4 1361 0 0 878 797 47.5820895522388 590 113 16.0739687055477 8 63358904 63358904 T G SNP NKAIN3 ENST00000328472 human ensembl 70_37 +1 known intronic c.55-133194 e2-133194 0.000 - - - no_errors NKAIN3 HGNC ENSG00000185942 tier3 828 0 0 1024 3 0.291828793774319 332 6 1.77514792899408 8 63498213 63498213 A G SNP NKAIN3 ENST00000328472 human ensembl 70_37 +1 known intronic c.193-4060 e3-4060 0.029 - - - no_errors NKAIN3 HGNC ENSG00000185942 tier4 456 0 0 392 246 38.5579937304075 295 0 0 8 64550593 64550593 G A SNP ENSG00000252358 ENST00000516549 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-28435 NULL 0.017 - - - no_errors 7SK RFAM ENSG00000252358 tier4 1201 3 0.248756218905473 1520 1 0.0657462195923734 487 28 5.4368932038835 8 64593538 64593538 T G SNP ENSG00000253762 ENST00000522857 human ensembl 70_37 +1 known 5_prime_flanking_region c.-23776 NULL 0.000 - - - no_errors RP11-579E24.2 Clone_based_vega_gene ENSG00000253762 tier3 972 0 0 1323 2 0.150829562594268 468 1 0.213219616204691 8 64696355 64696355 G A SNP LOC286184 ENST00000519550 human ensembl 70_37 +1 known intronic c.NULL NULL 0.007 - - - no_errors RP11-579E24.1 Clone_based_vega_gene ENSG00000253734 tier4 2190 0 0 2947 2 0.0677736360555744 901 0 0 8 64891724 64891724 C A SNP ENSG00000253554 ENST00000521958 human ensembl 70_37 -1 known intronic c.NULL NULL 0.742 - - - no_errors RP11-32K4.1 Clone_based_vega_gene ENSG00000253554 tier3 912 0 0 619 445 41.8233082706767 429 78 15.3846153846154 8 64946422 64946422 G T SNP ENSG00000253554 ENST00000521958 human ensembl 70_37 -1 known intronic c.NULL NULL 0.748 - - - no_errors RP11-32K4.1 Clone_based_vega_gene ENSG00000253554 tier4 499 0 0 374 351 48.4137931034483 287 66 18.6968838526912 8 65442528 65442528 T C SNP LOC401463 ENST00000517909 human ensembl 70_37 -1 known 3_prime_flanking_region c.*44340 NULL 0.365 - - - no_errors RP11-21C4.1 Clone_based_vega_gene ENSG00000254102 tier4 1726 0 0 1179 930 44.0967283072546 577 115 16.6184971098266 8 65887311 65887311 C T SNP ENSG00000253493 ENST00000520501 human ensembl 70_37 -1 known 5_prime_flanking_region c.-1228 NULL 0.171 - - - no_coding_region:pseudogene RP11-89A16.1 Clone_based_vega_gene ENSG00000253493 tier3 1292 0 0 1651 22 1.3134328358209 498 113 18.494271685761 8 66116188 66116188 G T SNP RPL31P41 ENST00000477967 human ensembl 70_37 +1 known 3_prime_flanking_region c.*48175 NULL 0.000 - - - no_coding_region:pseudogene RPL31P41 HGNC ENSG00000239261 tier4 2080 0 0 2828 1 0.0353232073472271 683 4 0.58055152394775 8 66743567 66743567 G A SNP PDE7A ENST00000401827 human ensembl 70_37 -1 known intronic c.138+10039 e1+10039 0.001 - - - no_errors PDE7A HGNC ENSG00000205268 tier3 553 0 0 766 2 0.260416666666667 285 2 0.680272108843537 8 67249631 67249631 T G SNP - - - - - - - - - - - - - - - - - - tier4 649 0 0 990 2 0.201612903225806 360 1 0.277008310249307 8 67321330 67321330 T A SNP ADHFE1 ENST00000396623 human ensembl 70_37 +1 known 5_prime_flanking_region c.-23422 NULL 0.265 - - - no_errors ADHFE1 HGNC ENSG00000147576 tier4 1263 0 0 1758 35 1.95094760312152 578 107 15.6204379562044 8 67387010 67387010 C T SNP C8orf46 ENST00000470796 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors C8orf46 HGNC ENSG00000169085 tier4 735 0 0 1050 2 0.190114068441065 368 2 0.53475935828877 8 67466203 67466203 C G SNP MYBL1 ENST00000522677 human ensembl 70_37 -1 known 3_prime_flanking_region c.*10729 NULL 0.001 - - - no_errors MYBL1 HGNC ENSG00000185697 tier3 749 0 0 614 454 42.5093632958801 392 60 13.1578947368421 8 68607164 68607164 G T SNP CPA6 ENST00000297770 human ensembl 70_37 -1 known intronic c.116+51085 e1+51085 0.003 - - - no_errors CPA6 HGNC ENSG00000165078 tier4 837 0 0 1112 3 0.269058295964126 378 6 1.5625 8 69120349 69120349 G A SNP PREX2 ENST00000288368 human ensembl 70_37 +1 known intronic c.4605-9502 e38-9502 0.000 - - - no_errors PREX2 HGNC ENSG00000046889 tier4 1435 0 0 1432 596 29.3885601577909 651 2 0.305343511450382 8 69806980 69806980 A T SNP ENSG00000254337 ENST00000522354 human ensembl 70_37 -1 known 5_prime_flanking_region c.-41982 NULL 0.004 - - - no_errors RP11-865I6.2 Clone_based_vega_gene ENSG00000254337 tier4 605 0 0 418 340 44.8548812664908 308 51 14.2061281337047 8 71304936 71304936 T G SNP NCOA2 ENST00000452400 human ensembl 70_37 -1 known intronic c.1+10999 e0+10999 0.962 - - - no_errors NCOA2 HGNC ENSG00000140396 tier3 1605 0 0 1176 1046 47.0535312640576 502 108 17.7049180327869 8 72782166 72782166 A C SNP LOC100132891 ENST00000537896 human ensembl 70_37 +1 known intronic c.497+25509 e2+25509 0.001 - - - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 tier4 1011 0 0 1397 3 0.214285714285714 444 0 0 8 72818381 72818381 C G SNP LOC100132891 ENST00000537896 human ensembl 70_37 +1 known intronic c.498-56777 e3-56777 0.000 - - - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 tier4 825 0 0 1139 2 0.175131348511384 349 1 0.282485875706215 8 73857288 73857288 G A SNP ENSG00000260838 ENST00000564832 human ensembl 70_37 +1 known 5_prime_flanking_region c.-2097 NULL 0.000 - - - no_errors RP11-531A24.3 Clone_based_vega_gene ENSG00000260838 tier3 1019 0 0 1335 5 0.373134328358209 581 0 0 8 75250278 75250278 G A SNP GDAP1 ENST00000520797 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors GDAP1 HGNC ENSG00000104381 tier3 871 0 0 1107 3 0.27002700270027 402 0 0 8 75514053 75514053 G T SNP ENSG00000254349 ENST00000523442 human ensembl 70_37 +1 known intronic c.1+1910 e0+1910 0.000 - - - no_errors RP11-758M4.1 Clone_based_vega_gene ENSG00000254349 tier3 692 0 0 870 2 0.229357798165138 369 0 0 8 75751098 75751098 A G SNP PI15 ENST00000260113 human ensembl 70_37 +1 known intronic c.274-5118 e2-5118 0.000 - - - no_errors PI15 HGNC ENSG00000137558 tier3 904 0 0 1236 5 0.40290088638195 437 0 0 8 77012633 77012633 C T SNP - - - - - - - - - - - - - - - - - - tier3 2286 0 0 3204 3 0.0934579439252336 739 0 0 8 77244295 77244295 G A SNP - - - - - - - - - - - - - - - - - - tier4 889 0 0 686 523 43.2588916459884 383 100 20.703933747412 8 77262250 77262250 A T SNP - - - - - - - - - - - - - - - - - - tier3 601 0 0 430 347 44.6015424164524 282 75 21.0084033613445 8 77503203 77503203 C G SNP ZFHX4-AS1 ENST00000522961 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors ZFHX4-AS1 HGNC ENSG00000253661 tier3 886 0 0 1139 30 2.56629597946963 515 0 0 8 77668440 77668440 G T SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known intronic c.3094-22004 e3-22004 0.001 - - - no_errors ZFHX4 HGNC ENSG00000091656 tier3 673 0 0 817 2 0.244200244200244 337 0 0 8 77705057 77705057 A C SNP ZFHX4 ENST00000521891 human ensembl 70_37 +1 known intronic c.3325+14382 e3+14382 1.000 - - - no_errors ZFHX4 HGNC ENSG00000091656 tier3 868 0 0 1122 6 0.531914893617021 407 4 0.97323600973236 8 77998617 77998617 G C SNP - - - - - - - - - - - - - - - - - - tier3 1300 1 0.0767459708365311 935 714 43.298969072165 515 90 14.7299509001637 8 78236664 78236664 C T SNP ENSG00000222334 ENST00000410402 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*37533 NULL 0.005 - - - no_errors AC105242.1 Clone_based_ensembl_gene ENSG00000222334 tier4 1140 1 0.0876424189307625 880 419 32.2555812163202 598 0 0 8 78258337 78258337 T C SNP - - - - - - - - - - - - - - - - - - tier3 974 0 0 677 432 38.9189189189189 401 89 18.1632653061225 8 79525933 79525933 G A SNP PKIA ENST00000352966 human ensembl 70_37 +1 known 3_prime_flanking_region c.*11877 NULL 0.000 - - - no_errors PKIA HGNC ENSG00000171033 tier3 1085 1 0.0919117647058824 1244 130 9.45454545454545 520 4 0.760456273764259 8 79580300 79580300 C T SNP ZC2HC1A ENST00000263849 human ensembl 70_37 +1 known intronic c.16+1901 e1+1901 0.100 - - - no_errors ZC2HC1A HGNC ENSG00000104427 tier3 1049 1 0.0951474785918173 725 644 47.0416362308254 405 117 22.4137931034483 8 80386803 80386803 A C SNP ENSG00000253391 ENST00000522035 human ensembl 70_37 +1 known 5_prime_flanking_region c.-45577 NULL 0.006 - - - no_coding_region:pseudogene RP11-758H6.1 Clone_based_vega_gene ENSG00000253391 tier4 1033 0 0 1419 4 0.28109627547435 402 1 0.248138957816377 8 80865993 80865993 C A SNP MRPS28 ENST00000276585 human ensembl 70_37 -1 known intronic c.396-34610 e3-34610 0.002 - - - no_errors MRPS28 HGNC ENSG00000147586 tier4 1111 0 0 1601 3 0.186219739292365 479 2 0.415800415800416 8 81015058 81015058 A G SNP TPD52 ENST00000518937 human ensembl 70_37 -1 known intronic c.20-38230 e2-38230 0.301 - - - no_errors TPD52 HGNC ENSG00000076554 tier4 1054 0 0 1521 2 0.131233595800525 547 0 0 8 81043729 81043729 T C SNP TPD52 ENST00000518937 human ensembl 70_37 -1 known intronic c.19+39931 e1+39931 0.000 - - - no_errors TPD52 HGNC ENSG00000076554 tier3 880 0 0 1324 2 0.150715900527506 445 0 0 8 81056740 81056740 A C SNP TPD52 ENST00000518937 human ensembl 70_37 -1 known intronic c.19+26920 e1+26920 0.000 - - - no_errors TPD52 HGNC ENSG00000076554 tier3 266 0 0 391 2 0.508905852417303 178 0 0 8 81916175 81916175 G A SNP PAG1 ENST00000220597 human ensembl 70_37 -1 known intronic c.1-10633 e1-10633 0.000 - - - no_errors PAG1 HGNC ENSG00000076641 tier3 1062 0 0 859 567 39.7615708274895 437 64 12.7490039840637 8 82128239 82128239 C A SNP UBE2HP1 ENST00000517466 human ensembl 70_37 +1 known 5_prime_flanking_region c.-38866 NULL 0.386 - - - no_coding_region:pseudogene UBE2HP1 HGNC ENSG00000253677 tier3 574 0 0 867 4 0.459242250287026 307 2 0.645161290322581 8 84458381 84458381 A C SNP - - - - - - - - - - - - - - - - - - tier4 248 0 0 301 5 1.63398692810458 158 2 1.25 8 84637058 84637058 A C SNP - - - - - - - - - - - - - - - - - - tier4 440 0 0 510 2 0.389863547758285 209 2 0.947867298578199 8 85068668 85068668 A G SNP RALYL ENST00000521268 human ensembl 70_37 +1 known 5_prime_flanking_region c.-372889 NULL 0.002 - - - no_errors RALYL HGNC ENSG00000184672 tier4 1114 0 0 712 595 45.4892966360856 490 78 13.7323943661972 8 85431685 85431685 G T SNP RALYL ENST00000521268 human ensembl 70_37 +1 known intronic c.1-9849 e1-9849 0.000 - - - no_errors RALYL HGNC ENSG00000184672 tier3 1526 0 0 1064 817 43.4112646121148 538 110 16.8711656441718 8 85740686 85740686 A T SNP RALYL ENST00000521268 human ensembl 70_37 +1 known intronic c.366-21529 e4-21529 0.307 - - - no_errors RALYL HGNC ENSG00000184672 tier3 798 0 0 1083 5 0.459558823529412 375 2 0.530503978779841 8 86208744 86208744 T C SNP ENSG00000257962 ENST00000551479 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-46667 NULL 0.000 - - - no_start_codon RP11-219B4.6 Clone_based_vega_gene ENSG00000257962 tier4 662 0 0 874 2 0.228310502283105 302 1 0.328947368421053 8 87747565 87747565 T G SNP CNGB3 ENST00000320005 human ensembl 70_37 -1 known intronic c.211+4318 e2+4318 0.002 - - - no_errors CNGB3 HGNC ENSG00000170289 tier4 1440 0 0 1737 2 0.115008625646924 552 1 0.180831826401447 8 88958093 88958093 C T SNP ENSG00000253171 ENST00000518129 human ensembl 70_37 +1 known 5_prime_flanking_region c.-28300 NULL 0.014 - - - no_errors CTB-118P15.2 Clone_based_vega_gene ENSG00000253171 tier4 696 0 0 923 2 0.216216216216216 392 1 0.254452926208651 8 92617951 92617951 T G SNP ENSG00000253901 ENST00000518416 human ensembl 70_37 -1 known intronic c.NULL NULL 0.022 - - - no_errors RP11-122C21.1 Clone_based_vega_gene ENSG00000253901 tier4 716 0 0 483 406 45.6692913385827 253 56 18.1229773462783 8 93172503 93172503 T C SNP ENSG00000233778 ENST00000430661 human ensembl 70_37 -1 known 5_prime_flanking_region c.-15951 NULL 0.000 - - - no_coding_region:pseudogene RP11-777J24.1 Clone_based_vega_gene ENSG00000233778 tier3 882 0 0 1232 2 0.162074554294976 395 0 0 8 93795484 93795484 A C SNP FLJ46284 ENST00000504861 human ensembl 70_37 -1 known intronic c.NULL NULL 0.002 - - - no_errors RP11-100L22.2 Clone_based_vega_gene ENSG00000248858 tier4 735 0 0 938 2 0.212765957446809 311 1 0.320512820512821 8 94102684 94102684 A T SNP C8orf87 ENST00000521906 human ensembl 70_37 -1 putative 3_prime_flanking_region c.*43839 NULL 0.994 - - - no_errors C8orf87 HGNC ENSG00000254318 tier4 932 0 0 1070 2 0.186393289841566 407 0 0 8 94130728 94130728 T G SNP C8orf87 ENST00000521906 human ensembl 70_37 -1 putative 3_prime_flanking_region c.*15795 NULL 0.950 - - - no_errors C8orf87 HGNC ENSG00000254318 tier4 1058 0 0 1353 2 0.14760147601476 460 0 0 8 94137721 94137721 C G SNP C8orf87 ENST00000521906 human ensembl 70_37 -1 putative 3_prime_flanking_region c.*8802 NULL 0.000 - - - no_errors C8orf87 HGNC ENSG00000254318 tier3 1308 0 0 915 673 42.3270440251572 599 112 15.6643356643357 8 96023174 96023174 A G SNP NDUFAF6 ENST00000542894 human ensembl 70_37 +1 known intronic c.42-21049 e2-21049 0.001 - - - no_errors NDUFAF6 HGNC ENSG00000156170 tier4 924 0 0 1321 2 0.151171579743008 491 3 0.607287449392713 8 97186867 97186867 G C SNP GDF6 ENST00000287020 human ensembl 70_37 -1 known 5_prime_flanking_region c.-13947 NULL 0.010 - - - no_errors GDF6 HGNC ENSG00000156466 tier3 516 0 0 663 3 0.449775112443778 212 0 0 8 100596099 100596099 T A SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known intronic c.5295+6238 e32+6238 0.006 - - - no_errors VPS13B HGNC ENSG00000132549 tier3 1184 0 0 785 788 50.0953591862683 482 119 19.8003327787022 8 100712175 100712175 A G SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known intronic c.6529+15 e35+15 0.000 - - - no_errors VPS13B HGNC ENSG00000132549 tier3 1276 0 0 1749 4 0.227920227920228 560 0 0 8 100777650 100777650 C T SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known intronic c.7126-1352 e39-1352 0.001 - - - no_errors VPS13B HGNC ENSG00000132549 tier4 1088 0 0 1392 2 0.143472022955524 488 0 0 8 101000024 101000024 A T SNP RGS22 ENST00000360863 human ensembl 70_37 -1 known intronic c.3019-177 e21-177 0.382 - - - no_errors RGS22 HGNC ENSG00000132554 tier3 1653 0 0 2419 2 0.0825763831544178 767 0 0 8 101402114 101402114 T G SNP ENSG00000253824 ENST00000519844 human ensembl 70_37 -1 known intronic c.NULL NULL 0.933 - - - no_errors KB-173C10.2 Clone_based_vega_gene ENSG00000253824 tier4 496 0 0 759 2 0.26281208935611 315 1 0.314465408805031 8 101702874 101702874 C G SNP PABPC1 ENST00000518293 human ensembl 70_37 -1 known intronic c.128-4352 e3-4352 0.493 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PABPC1 HGNC ENSG00000070756 tier4 1090 0 0 1126 489 30.259900990099 534 0 0 8 102219661 102219661 G T SNP ZNF706 ENST00000311212 human ensembl 70_37 -1 known 5_prime_flanking_region c.-5692 NULL 0.000 - - - no_errors ZNF706 HGNC ENSG00000120963 tier3 1616 0 0 2306 2 0.0866551126516464 670 6 0.884955752212389 8 102275933 102275933 T G SNP RNU7-67P ENST00000459003 human ensembl 70_37 +1 known 5_prime_flanking_region c.-43662 NULL 0.002 - - - no_errors RNU7-67P HGNC ENSG00000239115 tier3 946 0 0 1356 2 0.147275405007364 429 0 0 8 102409402 102409402 T C SNP ENSG00000253644 ENST00000518612 human ensembl 70_37 -1 known 5_prime_flanking_region c.-3988 NULL 0.000 - - - no_errors KB-1930G5.3 Clone_based_vega_gene ENSG00000253644 tier3 470 0 0 375 288 43.4389140271493 254 50 16.4473684210526 8 103003199 103003199 T C SNP NCALD ENST00000311028 human ensembl 70_37 -1 known intronic c.1+29266 e0+29266 0.000 - - - no_errors NCALD HGNC ENSG00000104490 tier3 968 0 0 646 523 44.7008547008547 408 70 14.6443514644351 8 103182024 103182024 C T SNP NCALD ENST00000311028 human ensembl 70_37 -1 known 5_prime_flanking_region c.-450167 NULL 0.005 - - - no_errors NCALD HGNC ENSG00000104490 tier4 881 0 0 566 517 47.7377654662973 309 61 16.4864864864865 8 103809374 103809374 T C SNP FLJ45248 ENST00000405813 human ensembl 70_37 +1 known 5_prime_flanking_region c.-9676 NULL 0.853 - - - no_errors KB-1732A1.1 Clone_based_vega_gene ENSG00000253669 tier2 333 0 0 489 2 0.407331975560081 129 1 0.769230769230769 8 105955538 105955538 A T SNP ENSG00000253350 ENST00000518180 human ensembl 70_37 +1 known intronic c.7-48314 e2-48314 0.006 - - - no_errors RP11-127H5.1 Clone_based_vega_gene ENSG00000253350 tier3 1473 1 0.0677966101694915 1438 568 28.3150548354935 603 0 0 8 106587523 106587523 T G SNP ZFPM2 ENST00000407775 human ensembl 70_37 +1 known intronic c.420+13814 e4+13814 1.000 - - - no_errors ZFPM2 HGNC ENSG00000169946 tier2 1089 0 0 1491 2 0.133779264214047 425 0 0 8 106647685 106647685 C A SNP ZFPM2 ENST00000407775 human ensembl 70_37 +1 known intronic c.532+1100 e5+1100 1.000 - - - no_errors ZFPM2 HGNC ENSG00000169946 tier2 1063 0 0 1545 3 0.193423597678917 500 0 0 8 108589060 108589060 T G SNP - - - - - - - - - - - - - - - - - - tier4 474 0 0 711 4 0.558659217877095 254 0 0 8 109146799 109146799 T C SNP ENSG00000230948 ENST00000413008 human ensembl 70_37 -1 known 5_prime_flanking_region c.-2457 NULL 0.001 - - - no_coding_region:pseudogene AP001331.1 Clone_based_vega_gene ENSG00000230948 tier4 755 0 0 1070 2 0.186567164179104 408 1 0.244498777506112 8 109797527 109797527 A G SNP TMEM74 ENST00000297459 human ensembl 70_37 -1 known intronic c.1-161 e1-161 0.000 - - - no_errors TMEM74 HGNC ENSG00000164841 tier3 957 0 0 1309 2 0.15255530129672 344 0 0 8 110129258 110129258 T G SNP TRHR ENST00000311762 human ensembl 70_37 +1 known intronic c.790-2019 e2-2019 0.000 - - - no_errors TRHR HGNC ENSG00000174417 tier3 657 0 0 901 3 0.331491712707182 262 1 0.380228136882129 8 112496629 112496629 T A SNP ENSG00000253434 ENST00000521753 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors RP11-1101K5.1 Clone_based_vega_gene ENSG00000253434 tier3 1178 0 0 814 721 46.9401041666667 508 83 14.0439932318105 8 113407960 113407960 T G SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known intronic c.5810-4943 e36-4943 1.000 - - - no_errors CSMD3 HGNC ENSG00000164796 tier3 1027 0 0 1447 2 0.138026224982747 574 1 0.173611111111111 8 113927925 113927925 A C SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known intronic c.1633+5931 e10+5931 0.002 - - - no_errors CSMD3 HGNC ENSG00000164796 tier3 911 0 0 1314 2 0.151745068285281 473 0 0 8 114013066 114013066 G C SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known intronic c.1030+18230 e6+18230 0.001 - - - no_errors CSMD3 HGNC ENSG00000164796 tier4 1119 0 0 753 598 44.2635085122132 414 94 18.4313725490196 8 114398019 114398019 A G SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known intronic c.178+50887 e1+50887 0.000 - - - no_errors CSMD3 HGNC ENSG00000164796 tier4 1270 0 0 1692 4 0.235849056603774 518 6 1.14503816793893 8 114486988 114486988 G A SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known 5_prime_flanking_region c.-37905 NULL 0.143 - - - no_errors CSMD3 HGNC ENSG00000164796 tier4 447 1 0.223214285714286 255 233 47.7459016393443 216 44 16.9230769230769 8 116218072 116218072 A T SNP - - - - - - - - - - - - - - - - - - tier4 1518 1 0.0658327847267939 1151 846 42.363545317977 576 124 17.7142857142857 8 118608173 118608173 G A SNP - - - - - - - - - - - - - - - - - - tier4 606 0 0 438 324 42.5196850393701 291 46 13.6498516320475 8 118679638 118679638 T A SNP - - - - - - - - - - - - - - - - - - tier4 889 0 0 1224 4 0.32546786004882 245 2 0.809716599190283 8 118835766 118835766 T C SNP EXT1 ENST00000378204 human ensembl 70_37 -1 known intronic c.1285-930 e5-930 0.000 - - - no_errors EXT1 HGNC ENSG00000182197 tier4 989 0 0 1435 2 0.13869625520111 431 3 0.691244239631336 8 119502020 119502020 A T SNP SAMD12 ENST00000314727 human ensembl 70_37 -1 known intronic c.193-49820 e3-49820 0.152 - - - no_errors SAMD12 HGNC ENSG00000177570 tier3 1593 0 0 2209 3 0.13550135501355 732 0 0 8 122075750 122075750 C T SNP ENSG00000253619 ENST00000517739 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-369K17.1 Clone_based_vega_gene ENSG00000253619 tier4 2357 5 0.211595429538722 3430 2 0.0582750582750583 811 50 5.74052812858783 8 122980148 122980148 T A SNP ENSG00000254303 ENST00000523792 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-398G24.2 Clone_based_vega_gene ENSG00000254303 tier3 582 0 0 729 4 0.545702592087312 339 0 0 8 123411031 123411031 C T SNP ENSG00000255364 ENST00000533992 human ensembl 70_37 -1 known 3_prime_flanking_region c.*15540 NULL 0.002 - - - no_errors RP11-94A24.1 Clone_based_vega_gene ENSG00000255364 tier3 1777 0 0 1287 1016 44.1163699522362 636 133 17.295188556567 8 127057092 127057092 C T SNP ENSG00000254227 ENST00000523525 human ensembl 70_37 -1 known 5_prime_flanking_region c.-43847 NULL 0.065 - - - no_errors RP11-622O11.4 Clone_based_vega_gene ENSG00000254227 tier4 1184 2 0.16849199663016 1004 538 34.8897535667964 493 2 0.401606425702811 8 127709712 127709712 A G SNP ENSG00000254286 ENST00000519880 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-89K10.1 Clone_based_vega_gene ENSG00000254286 tier4 623 0 0 475 342 41.8604651162791 277 82 22.8412256267409 8 128295287 128295287 A T SNP LOC727677 ENST00000501396 human ensembl 70_37 -1 known 3_prime_flanking_region c.*6775 NULL 0.000 - - - no_errors RP11-382A18.1 Clone_based_vega_gene ENSG00000246228 tier4 871 0 0 1067 5 0.465983224603914 284 0 0 8 128496926 128496926 A C SNP LOC727677 ENST00000502056 human ensembl 70_37 -1 known 5_prime_flanking_region c.-2542 NULL 0.181 - - - no_errors RP11-382A18.1 Clone_based_vega_gene ENSG00000246228 tier4 167 0 0 246 2 0.806451612903226 110 0 0 8 129033215 129033215 A C SNP PVT1 ENST00000512617 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors PVT1 HGNC ENSG00000249859 tier3 452 0 0 641 1 0.15552099533437 213 5 2.28310502283105 8 129743616 129743616 A G SNP - - - - - - - - - - - - - - - - - - tier4 840 0 0 570 487 45.9867799811143 439 105 19.3014705882353 8 130080034 130080034 A G SNP - - - - - - - - - - - - - - - - - - tier3 1427 0 0 1966 2 0.101626016260163 541 1 0.18450184501845 8 130927807 130927807 T G SNP FAM49B ENST00000401979 human ensembl 70_37 -1 known intronic c.1-10976 e1-10976 0.000 - - - no_errors FAM49B HGNC ENSG00000153310 tier4 1172 0 0 1856 3 0.161377084454008 537 3 0.555555555555556 8 131811748 131811748 T C SNP ADCY8 ENST00000286355 human ensembl 70_37 -1 known intronic c.3060+924 e15+924 0.000 - - - no_errors ADCY8 HGNC ENSG00000155897 tier4 1022 0 0 1463 4 0.27266530334015 359 1 0.276243093922652 8 133325997 133325997 T G SNP KCNQ3 ENST00000388996 human ensembl 70_37 -1 known intronic c.387-127569 e2-127569 0.005 - - - no_errors KCNQ3 HGNC ENSG00000184156 tier3 1016 0 0 1331 2 0.150037509377344 487 0 0 8 133415010 133415010 A G SNP KCNQ3 ENST00000388996 human ensembl 70_37 -1 known intronic c.386+77384 e1+77384 0.004 - - - no_errors KCNQ3 HGNC ENSG00000184156 tier4 1114 0 0 1182 207 14.902807775378 385 1 0.259067357512953 8 135859202 135859202 A G SNP MIR30D ENST00000362283 human ensembl 70_37 -1 known 5_prime_flanking_region c.-42014 NULL 0.000 - - - no_errors MIR30D HGNC ENSG00000199153 tier4 1589 0 0 2064 1 0.0484027105517909 499 2 0.397614314115308 8 136068874 136068874 A C SNP - - - - - - - - - - - - - - - - - - tier4 437 0 0 560 5 0.884955752212389 291 1 0.342465753424658 8 136682626 136682626 G A SNP MAPRE1P1 ENST00000522077 human ensembl 70_37 -1 known 5_prime_flanking_region c.-44402 NULL 0.000 - - - no_coding_region:pseudogene MAPRE1P1 HGNC ENSG00000253915 tier4 513 0 0 367 241 39.6381578947368 220 44 16.5413533834586 8 136836424 136836424 T C SNP - - - - - - - - - - - - - - - - - - tier3 915 0 0 628 556 46.9594594594595 306 85 21.7391304347826 8 137265907 137265907 C G SNP - - - - - - - - - - - - - - - - - - tier3 1752 1 0.0570125427594071 1194 1013 45.8786231884058 551 105 15.9332321699545 8 137424620 137424620 G A SNP - - - - - - - - - - - - - - - - - - tier3 950 2 0.209424083769634 623 479 43.4664246823956 427 75 14.9402390438247 8 137759455 137759455 T G SNP ENSG00000254101 ENST00000517345 human ensembl 70_37 +1 known intronic c.NULL NULL 0.148 - - - no_errors RP11-30J20.1 Clone_based_vega_gene ENSG00000254101 tier4 1501 0 0 1888 3 0.158562367864693 598 0 0 8 139273234 139273234 C A SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known intronic c.298-4232 e4-4232 0.000 - - - no_errors FAM135B HGNC ENSG00000147724 tier3 840 0 0 529 417 44.0803382663848 375 88 19.0064794816415 8 139328893 139328893 A C SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known intronic c.78-5730 e2-5730 0.132 - - - no_errors FAM135B HGNC ENSG00000147724 tier4 647 0 0 765 2 0.260756192959583 351 1 0.284090909090909 8 139722186 139722186 T C SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known intronic c.2517+5739 e29+5739 0.000 - - - no_errors COL22A1 HGNC ENSG00000169436 tier3 542 0 0 337 311 47.9938271604938 221 34 13.3333333333333 8 140035661 140035661 T G SNP - - - - - - - - - - - - - - - - - - tier2 1090 0 0 1564 2 0.127551020408163 504 5 0.982318271119843 8 140631824 140631824 A C SNP KCNK9 ENST00000303015 human ensembl 70_37 -1 known intronic c.284-482 e2-482 0.000 - - - no_errors KCNK9 HGNC ENSG00000169427 tier4 744 0 0 1025 2 0.194741966893866 318 1 0.313479623824451 8 140646546 140646546 G T SNP KCNK9 ENST00000303015 human ensembl 70_37 -1 known intronic c.284-15204 e2-15204 0.000 - - - no_errors KCNK9 HGNC ENSG00000169427 tier4 643 0 0 787 3 0.379746835443038 279 0 0 8 141343777 141343777 A C SNP TRAPPC9 ENST00000389328 human ensembl 70_37 -1 known intronic c.1790-22304 e10-22304 0.021 - - - no_errors TRAPPC9 HGNC ENSG00000167632 tier4 1287 0 0 1960 2 0.101884870096791 433 0 0 8 142486387 142486387 A C SNP FLJ43860 ENST00000521053 human ensembl 70_37 -1 known intronic c.120+1116 e2+1116 0.000 - - - no_errors FLJ43860 Uniprot_genename ENSG00000226807 tier3 81 0 0 109 2 1.8018018018018 49 0 0 8 144153005 144153005 T C SNP ENSG00000261667 ENST00000562505 human ensembl 70_37 +1 putative 5_prime_flanking_region c.-9466 NULL 0.023 - - - no_errors RP11-520P18.5 Clone_based_vega_gene ENSG00000261667 tier4 1174 0 0 1042 722 40.9297052154195 542 100 15.5763239875389 9 558706 558706 T A SNP KANK1 ENST00000382297 human ensembl 70_37 +1 known intronic c.1+53952 e0+53952 0.001 - - - no_errors KANK1 HGNC ENSG00000107104 tier4 910 0 0 1506 2 0.132013201320132 495 0 0 9 1512703 1512703 A G SNP - - - - - - - - - - - - - - - - - - tier2 921 0 0 1135 1 0.0880281690140845 399 3 0.746268656716418 9 1956551 1956551 A G SNP ENSG00000224092 ENST00000436102 human ensembl 70_37 -1 known 3_prime_flanking_region c.*21233 NULL 0.027 - - - no_coding_region:pseudogene RP11-443B9.1 Clone_based_vega_gene ENSG00000224092 tier4 709 0 0 1093 3 0.273722627737226 407 1 0.245098039215686 9 2678246 2678246 T C SNP KCNV2 ENST00000382082 human ensembl 70_37 +1 known 5_prime_flanking_region c.-39494 NULL 0.001 - - - no_errors KCNV2 HGNC ENSG00000168263 tier2 413 0 0 595 3 0.500834724540901 91 1 1.08695652173913 9 4138526 4138526 A G SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known intronic c.389-12585 e2-12585 0.001 - - - no_errors GLIS3 HGNC ENSG00000107249 tier2 857 0 0 1163 3 0.257289879931389 449 2 0.441501103752759 9 4161532 4161532 C T SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known intronic c.389-35591 e2-35591 0.000 - - - no_errors GLIS3 HGNC ENSG00000107249 tier2 1103 0 0 799 671 45.6462585034014 474 93 16.4021164021164 9 4703235 4703235 G T SNP CDC37L1 ENST00000381854 human ensembl 70_37 +1 known intronic c.912+1207 e6+1207 0.001 - - - no_errors CDC37L1 HGNC ENSG00000106993 tier2 1076 0 0 1584 2 0.12586532410321 461 2 0.428265524625268 9 6097300 6097300 A C SNP LOC100506189 ENST00000437881 human ensembl 70_37 +1 known 3_prime_flanking_region c.*30586 NULL 0.084 - - - no_errors RP11-218I7.2 Clone_based_vega_gene ENSG00000228739 tier4 535 0 0 734 3 0.407055630936228 226 0 0 9 6237490 6237490 C A SNP IL33 ENST00000456383 human ensembl 70_37 +1 known intronic c.1-4194 e1-4194 0.001 - - - no_errors IL33 HGNC ENSG00000137033 tier2 695 0 0 1040 3 0.287631831255992 321 4 1.22699386503067 9 6267921 6267921 T C SNP ENSG00000228132 ENST00000445989 human ensembl 70_37 +1 known 5_prime_flanking_region c.-8719 NULL 0.054 - - - no_coding_region:pseudogene RP11-279E1.1 Clone_based_vega_gene ENSG00000228132 tier4 1337 1 0.0744047619047619 988 709 41.6324133881386 498 79 13.6915077989601 9 7149719 7149719 T G SNP KDM4C ENST00000381309 human ensembl 70_37 +1 known intronic c.2782-15519 e19-15519 0.000 - - - no_errors KDM4C HGNC ENSG00000107077 tier2 1630 0 0 2181 2 0.0916170407695831 718 0 0 9 7846845 7846845 T C SNP C9orf123 ENST00000469050 human ensembl 70_37 -1 known intronic c.NULL NULL 0.053 - - - no_errors C9orf123 HGNC ENSG00000137038 tier4 651 0 0 441 328 42.6527958387516 326 77 19.106699751861 9 7899501 7899501 T C SNP C9orf123 ENST00000469050 human ensembl 70_37 -1 known 5_prime_flanking_region c.-11121 NULL 0.000 - - - no_errors C9orf123 HGNC ENSG00000137038 tier4 835 0 0 1110 2 0.179856115107914 362 0 0 9 8567078 8567078 T G SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known intronic c.353-38299 e4-38299 0.000 - - - no_errors PTPRD HGNC ENSG00000153707 tier3 500 0 0 615 2 0.323101777059774 260 1 0.383141762452107 9 9090494 9090494 G T SNP PTPRD ENST00000381196 human ensembl 70_37 -1 known intronic c.1-71759 e1-71759 0.014 - - - no_errors PTPRD HGNC ENSG00000153707 tier3 697 0 0 882 2 0.225988700564972 374 4 1.05820105820106 9 10699399 10699399 G A SNP - - - - - - - - - - - - - - - - - - tier4 1018 1 0.098135426889107 743 472 38.8157894736842 399 92 18.5858585858586 9 11020674 11020674 A C SNP ENSG00000234146 ENST00000434743 human ensembl 70_37 +1 known 3_prime_flanking_region c.*7578 NULL 0.000 - - - no_coding_region:pseudogene RP11-109M17.1 Clone_based_vega_gene ENSG00000234146 tier3 1300 0 0 1480 160 9.7442143727162 630 0 0 9 11024000 11024000 C G SNP ENSG00000234146 ENST00000434743 human ensembl 70_37 +1 known 3_prime_flanking_region c.*10904 NULL 0.000 - - - no_coding_region:pseudogene RP11-109M17.1 Clone_based_vega_gene ENSG00000234146 tier4 1093 0 0 1535 2 0.130039011703511 531 0 0 9 11158002 11158002 C T SNP - - - - - - - - - - - - - - - - - - tier4 565 1 0.176678445229682 359 312 46.4977645305514 274 60 17.9640718562874 9 11289809 11289809 A C SNP ENSG00000230365 ENST00000437471 human ensembl 70_37 -1 known 5_prime_flanking_region c.-13495 NULL 0.000 - - - no_errors RP11-23D5.1 Clone_based_vega_gene ENSG00000230365 tier3 968 0 0 1316 2 0.151745068285281 475 0 0 9 11674954 11674954 A T SNP - - - - - - - - - - - - - - - - - - tier4 1468 0 0 1890 41 2.12325220093216 677 0 0 9 11702244 11702244 T A SNP - - - - - - - - - - - - - - - - - - tier3 1482 1 0.0674308833445718 1367 648 32.1588089330025 684 0 0 9 11767606 11767606 A C SNP - - - - - - - - - - - - - - - - - - tier4 562 0 0 675 4 0.589101620029455 310 2 0.632911392405063 9 11867874 11867874 C A SNP - - - - - - - - - - - - - - - - - - tier3 1675 0 0 2124 5 0.234852043212776 681 0 0 9 12277989 12277989 G A SNP ENSG00000231491 ENST00000413804 human ensembl 70_37 +1 known 5_prime_flanking_region c.-9331 NULL 0.180 - - - no_coding_region:pseudogene RP11-71E22.1 Clone_based_vega_gene ENSG00000231491 tier3 1015 0 0 1291 3 0.231660231660232 363 1 0.274725274725275 9 12408525 12408525 A G SNP - - - - - - - - - - - - - - - - - - tier4 1121 0 0 1610 2 0.123992560446373 499 0 0 9 12536822 12536822 C G SNP - - - - - - - - - - - - - - - - - - tier3 1091 0 0 730 600 45.0788880540947 415 77 15.587044534413 9 13180750 13180750 A C SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known intronic c.2649+2667 e18+2667 0.001 - - - no_errors MPDZ HGNC ENSG00000107186 tier3 564 0 0 916 2 0.217864923747277 368 2 0.540540540540541 9 13542918 13542918 A C SNP - - - - - - - - - - - - - - - - - - tier3 978 0 0 1249 2 0.159744408945687 439 0 0 9 14217863 14217863 T C SNP NFIB ENST00000397581 human ensembl 70_37 -1 known intronic c.563-38084 e3-38084 0.000 - - - no_errors NFIB HGNC ENSG00000147862 tier3 1122 0 0 1489 2 0.134138162307176 552 1 0.18018018018018 9 14821284 14821284 T A SNP FREM1 ENST00000380881 human ensembl 70_37 -1 known intronic c.2341-1844 e13-1844 0.000 - - - no_errors FREM1 HGNC ENSG00000164946 tier3 1091 0 0 1557 5 0.320102432778489 393 1 0.253807106598985 9 15849179 15849179 G A SNP CCDC171 ENST00000380701 human ensembl 70_37 +1 known intronic c.3468+234 e22+234 0.873 - - - no_errors CCDC171 HGNC ENSG00000164989 tier3 1090 0 0 1065 405 27.5510204081633 521 2 0.380952380952381 9 16489356 16489356 C A SNP BNC2 ENST00000380672 human ensembl 70_37 -1 known intronic c.670-51834 e6-51834 0.002 - - - no_errors BNC2 HGNC ENSG00000173068 tier4 1181 0 0 1634 2 0.122174709835064 535 0 0 9 16567763 16567763 A G SNP BNC2 ENST00000380672 human ensembl 70_37 -1 known intronic c.434-15000 e5-15000 0.019 - - - no_errors BNC2 HGNC ENSG00000173068 tier2 1144 0 0 804 674 45.6021650879567 474 100 17.4216027874564 9 16572082 16572082 T G SNP BNC2 ENST00000380672 human ensembl 70_37 -1 known intronic c.433+10899 e4+10899 0.000 - - - no_errors BNC2 HGNC ENSG00000173068 tier3 922 0 0 1242 2 0.160771704180064 402 1 0.248138957816377 9 16812089 16812089 A G SNP BNC2 ENST00000380672 human ensembl 70_37 -1 known intronic c.3+58555 e1+58555 0.000 - - - no_errors BNC2 HGNC ENSG00000173068 tier3 576 0 0 929 2 0.214822771213749 322 3 0.917431192660551 9 17065059 17065059 G T SNP ENSG00000237153 ENST00000430545 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.001 - - - no_errors RP11-132E11.2 Clone_based_vega_gene ENSG00000237153 tier3 1063 0 0 1492 3 0.200534759358289 577 2 0.345423143350604 9 17158723 17158723 A T SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known intronic c.449+15349 e2+15349 0.290 - - - no_errors CNTLN HGNC ENSG00000044459 tier4 1733 0 0 2291 3 0.13077593722755 860 0 0 9 17410013 17410013 T G SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known intronic c.2796+542 e16+542 0.000 - - - no_errors CNTLN HGNC ENSG00000044459 tier3 1329 0 0 1872 3 0.16 634 1 0.156985871271586 9 17414173 17414173 C T SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known intronic c.2797-1613 e17-1613 0.000 - - - no_errors CNTLN HGNC ENSG00000044459 tier3 834 0 0 533 410 43.4782608695652 397 80 16.7014613778706 9 17427552 17427552 C T SNP CNTLN ENST00000380647 human ensembl 70_37 +1 known intronic c.3114+11365 e18+11365 0.066 - - - no_errors CNTLN HGNC ENSG00000044459 tier3 1125 0 0 1434 3 0.208623087621697 618 0 0 9 18039178 18039178 A G SNP - - - - - - - - - - - - - - - - - - tier3 1939 0 0 1301 1124 46.3314097279472 601 118 16.4116828929068 9 18096517 18096517 T C SNP - - - - - - - - - - - - - - - - - - tier3 827 0 0 1040 2 0.191938579654511 322 0 0 9 18413513 18413513 G T SNP - - - - - - - - - - - - - - - - - - tier4 838 0 0 1029 25 2.3719165085389 493 0 0 9 19695959 19695959 T G SNP SLC24A2 ENST00000341998 human ensembl 70_37 -1 known intronic c.931-73662 e2-73662 0.019 - - - no_errors SLC24A2 HGNC ENSG00000155886 tier4 756 0 0 1040 1 0.0959692898272553 404 2 0.48780487804878 9 20175627 20175627 G T SNP - - - - - - - - - - - - - - - - - - tier3 1481 0 0 2025 3 0.147856086742238 503 6 1.17878192534381 9 22133849 22133849 T G SNP CDKN2B-AS1 ENST00000421632 human ensembl 70_37 +1 known 3_prime_flanking_region c.*15148 NULL 0.008 - - - no_errors CDKN2B-AS1 HGNC ENSG00000240498 tier3 640 0 0 982 1 0.101626016260163 243 3 1.21951219512195 9 23809966 23809966 A C SNP ELAVL2 ENST00000380117 human ensembl 70_37 -1 known intronic c.1+15838 e0+15838 0.001 - - - no_errors ELAVL2 HGNC ENSG00000107105 tier3 1362 0 0 1874 3 0.159829515183804 571 1 0.174825174825175 9 23933123 23933123 A T SNP ENSG00000237414 ENST00000446754 human ensembl 70_37 -1 known 5_prime_flanking_region c.-35069 NULL 0.000 - - - no_errors RP11-321L2.2 Clone_based_vega_gene ENSG00000237414 tier3 1068 1 0.0934579439252336 796 644 44.6911866759195 472 133 21.9834710743802 9 24483426 24483426 G T SNP - - - - - - - - - - - - - - - - - - tier4 1522 0 0 1949 9 0.458481915435558 625 4 0.635930047694754 9 25090204 25090204 T C SNP ENSG00000222693 ENST00000410761 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-1055 NULL 0.000 - - - no_errors 7SK RFAM ENSG00000222693 tier3 1677 0 0 1173 934 44.328429046037 689 120 14.760147601476 9 25222000 25222000 A G SNP - - - - - - - - - - - - - - - - - - tier3 1715 0 0 1760 222 11.1951588502269 649 0 0 9 25280047 25280047 G A SNP - - - - - - - - - - - - - - - - - - tier4 1215 1 0.0822368421052632 1502 18 1.18421052631579 504 2 0.392156862745098 9 25418176 25418176 C T SNP - - - - - - - - - - - - - - - - - - tier3 1995 0 0 1470 1115 43.1167826759474 695 114 14.0914709517923 9 25501715 25501715 T C SNP - - - - - - - - - - - - - - - - - - tier4 843 0 0 1049 2 0.190294957183635 423 0 0 9 27167154 27167154 G A SNP TEK ENST00000380036 human ensembl 70_37 +1 known intronic c.365-1339 e3-1339 0.000 - - - no_errors TEK HGNC ENSG00000120156 tier3 1200 1 0.0830564784053156 915 748 44.8979591836735 573 114 16.5938864628821 9 27173339 27173339 A G SNP TEK ENST00000380036 human ensembl 70_37 +1 known missense c.880 p.K294E 0.997 smart_EG-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 611 0 0 714 2 0.279329608938547 278 4 1.41843971631206 9 28282957 28282957 T G SNP LINGO2 ENST00000379992 human ensembl 70_37 -1 known intronic c.1+12249 e0+12249 0.000 - - - no_errors LINGO2 HGNC ENSG00000174482 tier3 946 0 0 1334 1 0.0749063670411985 411 3 0.72463768115942 9 29887326 29887326 C T SNP - - - - - - - - - - - - - - - - - - tier3 859 0 0 1044 24 2.24719101123595 366 87 19.1208791208791 9 30461577 30461577 C A SNP - - - - - - - - - - - - - - - - - - tier4 1243 0 0 1666 5 0.299043062200957 446 3 0.665188470066519 9 30906489 30906489 T G SNP FTLP4 ENST00000430740 human ensembl 70_37 +1 known 5_prime_flanking_region c.-28994 NULL 0.000 - - - no_coding_region:pseudogene FTLP4 HGNC ENSG00000214020 tier3 1334 0 0 1803 3 0.166112956810631 483 2 0.412371134020619 9 31071850 31071850 C T SNP - - - - - - - - - - - - - - - - - - tier4 552 0 0 338 272 44.5901639344262 263 61 18.8271604938272 9 31355066 31355066 T A SNP ENSG00000260720 ENST00000562065 human ensembl 70_37 -1 known 3_prime_flanking_region c.*16543 NULL 0.001 - - - no_errors RP11-271O3.1 Clone_based_vega_gene ENSG00000260720 tier3 1355 0 0 1403 146 9.41935483870968 574 0 0 9 31524971 31524971 A T SNP ENSG00000229080 ENST00000426425 human ensembl 70_37 +1 known 3_prime_flanking_region c.*18358 NULL 0.001 - - - no_coding_region:pseudogene RP11-291J9.2 Clone_based_vega_gene ENSG00000229080 tier4 1515 1 0.0659630606860158 1008 800 44.2233278054174 478 122 20.3333333333333 9 32978468 32978468 G T SNP APTX ENST00000379819 human ensembl 70_37 -1 known intronic c.813-3909 e7-3909 0.226 - - - no_errors APTX HGNC ENSG00000137074 tier4 809 0 0 1111 4 0.3584229390681 392 0 0 9 33625691 33625691 T G SNP TRBV25OR9-2 ENST00000438417 human ensembl 70_37 +1 known 5_prime_flanking_region c.-36510 NULL 0.006 - - - no_stop_codon TRBV25OR9-2 HGNC ENSG00000240215 tier4 91 0 0 134 2 1.45985401459854 21 0 0 9 33698066 33698066 A G SNP ENSG00000260947 ENST00000566968 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-384P7.7 Clone_based_vega_gene ENSG00000260947 tier1 805 0 0 1251 3 0.239234449760766 355 3 0.837988826815642 9 34671565 34671565 G A SNP ENSG00000230074 ENST00000434627 human ensembl 70_37 +1 known intronic c.NULL NULL 0.049 - - - no_errors RP11-195F19.9 Clone_based_vega_gene ENSG00000230074 tier4 1415 1 0.0705716302046577 1082 816 42.9926238145416 583 113 16.235632183908 9 34776084 34776084 T G SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-46660 NULL 0.468 - - - no_errors FAM205A HGNC ENSG00000205108 tier4 784 0 0 1043 3 0.286806883365201 412 1 0.242130750605327 9 35481817 35481817 A C SNP ATP8B5P ENST00000329395 human ensembl 70_37 +1 known rna NULL NULL 0.991 - - - no_errors ATP8B5P HGNC ENSG00000179766 tier1 508 0 0 733 2 0.272108843537415 290 7 2.35690235690236 9 36140659 36140659 C G SNP GLIPR2 ENST00000377960 human ensembl 70_37 +1 known intronic c.13+3871 e1+3871 0.000 - - - no_errors GLIPR2 HGNC ENSG00000122694 tier3 593 0 0 490 443 47.4304068522484 308 71 18.1585677749361 9 36167212 36167212 T G SNP CCIN ENST00000335119 human ensembl 70_37 +1 known 5_prime_flanking_region c.-2288 NULL 0.035 - - - no_errors CCIN HGNC ENSG00000185972 tier4 404 0 0 595 2 0.33500837520938 227 1 0.43859649122807 9 37065825 37065825 A C SNP PAX5 ENST00000358127 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31797 NULL 0.000 - - - no_errors PAX5 HGNC ENSG00000196092 tier3 2299 0 0 3474 1 0.0287686996547756 867 2 0.230149597238205 9 37344757 37344757 C A SNP ZCCHC7 ENST00000336755 human ensembl 70_37 +1 known intronic c.988-4597 e6-4597 0.049 - - - no_errors ZCCHC7 HGNC ENSG00000147905 tier4 839 0 0 687 460 40.104620749782 399 50 11.1358574610245 9 37344758 37344758 C A SNP ZCCHC7 ENST00000336755 human ensembl 70_37 +1 known intronic c.988-4596 e6-4596 0.401 - - - no_errors ZCCHC7 HGNC ENSG00000147905 tier4 826 0 0 679 455 40.1234567901235 390 56 12.5560538116592 9 37646657 37646657 T G SNP ENSG00000255872 ENST00000540557 human ensembl 70_37 -1 known intronic c.894+46482 e3+46482 0.000 - - - no_errors RP11-613M10.9 Clone_based_vega_gene ENSG00000255872 tier3 1717 0 0 2478 2 0.0806451612903226 791 0 0 9 37865269 37865269 A C SNP DCAF10 ENST00000242323 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*3764 NULL 0.000 - - - no_errors DCAF10 HGNC ENSG00000122741 tier3 1016 0 0 1584 2 0.126103404791929 527 0 0 9 39107720 39107720 T C SNP CNTNAP3 ENST00000297668 human ensembl 70_37 -1 known intronic c.2365+1437 e15+1437 0.171 - - - no_errors CNTNAP3 HGNC ENSG00000106714 tier4 587 0 0 392 331 45.7814661134163 320 45 12.2615803814714 9 40291910 40291910 G A SNP ENSG00000185020 ENST00000333554 human ensembl 70_37 +1 known 5_prime_flanking_region c.-15436 NULL 0.002 - - - no_coding_region:pseudogene RP11-111G23.1 Clone_based_vega_gene ENSG00000185020 tier3 854 0 0 1181 1 0.0843881856540084 501 68 11.9507908611599 9 66271734 66271734 A C SNP - - - - - - - - - - - - - - - - - - tier4 1633 0 0 2376 4 0.167926112510495 602 0 0 9 69066665 69066665 T G SNP ENSG00000233961 ENST00000424707 human ensembl 70_37 +1 known intronic c.NULL NULL 0.003 - - - no_coding_region:pseudogene RP11-87H9.2 Clone_based_vega_gene ENSG00000233961 tier2 1921 0 0 2348 1 0.042571306939123 1844 3 0.162162162162162 9 69974205 69974205 A C SNP - - - - - - - - - - - - - - - - - - tier4 1520 0 0 2037 2 0.0978952520802741 889 0 0 9 69974218 69974218 G A SNP - - - - - - - - - - - - - - - - - - tier4 1363 0 0 1843 2 0.108342361863489 768 0 0 9 70920172 70920172 A C SNP ENSG00000234394 ENST00000414223 human ensembl 70_37 +1 known 5_prime_flanking_region c.-23324 NULL 0.002 - - - no_errors RP11-561O23.5 Clone_based_vega_gene ENSG00000234394 tier2 291 0 0 403 3 0.738916256157635 147 0 0 9 70967741 70967741 T G SNP PGM5 ENST00000396396 human ensembl 70_37 +1 known 5_prime_flanking_region c.-4303 NULL 0.001 - - - no_errors PGM5 HGNC ENSG00000154330 tier3 595 0 0 840 2 0.237529691211401 343 1 0.290697674418605 9 72974251 72974251 A C SNP ENSG00000239180 ENST00000459091 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-47634 NULL 0.004 - - - no_errors Y_RNA RFAM ENSG00000239180 tier4 1005 0 0 1608 2 0.124223602484472 435 0 0 9 72995577 72995577 G T SNP SMC5 ENST00000361138 human ensembl 70_37 +1 known 3_prime_flanking_region c.*28330 NULL 0.053 - - - no_errors SMC5 HGNC ENSG00000198887 tier4 291 0 0 399 3 0.746268656716418 141 7 4.72972972972973 9 74669201 74669201 A C SNP C9orf57 ENST00000377024 human ensembl 70_37 -1 known intronic c.346+1789 e4+1789 0.000 - - - no_errors C9orf57 HGNC ENSG00000204669 tier4 1023 0 0 1620 2 0.123152709359606 501 2 0.394477317554241 9 75503568 75503568 T G SNP ENSG00000236849 ENST00000423171 human ensembl 70_37 -1 known 5_prime_flanking_region c.-14584 NULL 0.000 - - - no_errors RP11-151D14.1 Clone_based_vega_gene ENSG00000236849 tier3 554 0 0 797 3 0.375 258 2 0.769230769230769 9 75648638 75648638 A G SNP ALDH1A1 ENST00000419959 human ensembl 70_37 -1 known intronic c.1+46645 e0+46645 0.001 - - - no_stop_codon:bad_bp_length_for_coding_region ALDH1A1 HGNC ENSG00000165092 tier3 909 0 0 1295 3 0.231124807395994 363 2 0.547945205479452 9 76130332 76130332 C A SNP ENSG00000221844 ENST00000416030 human ensembl 70_37 -1 known 5_prime_flanking_region c.-39343 NULL 0.199 - - - no_coding_region:pseudogene RP11-404E6.1 Clone_based_vega_gene ENSG00000221844 tier3 833 1 0.119760479041916 1139 1 0.087719298245614 343 8 2.27920227920228 9 78416694 78416694 C A SNP - - - - - - - - - - - - - - - - - - tier4 553 0 0 784 3 0.381194409148666 225 3 1.31578947368421 9 78649186 78649186 A C SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known intronic c.632+7233 e5+7233 0.000 - - - no_errors PCSK5 HGNC ENSG00000099139 tier3 934 0 0 1289 2 0.154798761609907 444 0 0 9 79863654 79863654 G T SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known intronic c.2037+1343 e20+1343 0.092 - - - no_errors VPS13A HGNC ENSG00000197969 tier4 394 0 0 534 3 0.558659217877095 207 2 0.952380952380952 9 79940964 79940964 T G SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known intronic c.5991+2821 e45+2821 0.004 - - - no_errors VPS13A HGNC ENSG00000197969 tier4 767 0 0 1067 3 0.280373831775701 362 0 0 9 81036655 81036655 G T SNP - - - - - - - - - - - - - - - - - - tier4 1012 0 0 1426 2 0.139470013947001 489 2 0.407331975560081 9 81085747 81085747 A G SNP - - - - - - - - - - - - - - - - - - tier3 1410 0 0 1845 2 0.108283703302653 569 0 0 9 81437184 81437184 T C SNP - - - - - - - - - - - - - - - - - - tier3 706 0 0 971 4 0.41025641025641 349 1 0.285714285714286 9 81574744 81574744 T A SNP - - - - - - - - - - - - - - - - - - tier3 913 2 0.218579234972678 567 419 42.451874366768 325 87 21.1165048543689 9 82691453 82691453 G A SNP ENSG00000230945 ENST00000417801 human ensembl 70_37 +1 known 3_prime_flanking_region c.*41983 NULL 0.987 - - - no_errors RP11-394O9.1 Clone_based_vega_gene ENSG00000230945 tier3 1176 0 0 788 606 43.4408602150538 415 72 14.7843942505133 9 82769338 82769338 C A SNP - - - - - - - - - - - - - - - - - - tier4 762 0 0 963 4 0.413650465356774 344 4 1.14942528735632 9 82799397 82799397 C G SNP - - - - - - - - - - - - - - - - - - tier4 1870 0 0 2625 3 0.114025085518814 440 0 0 9 83926795 83926795 T C SNP - - - - - - - - - - - - - - - - - - tier4 1162 0 0 825 857 50.9512485136742 446 124 21.7543859649123 9 83989705 83989705 G A SNP ENSG00000228375 ENST00000412447 human ensembl 70_37 +1 known 5_prime_flanking_region c.-35489 NULL 0.987 - - - no_coding_region:pseudogene RP11-232A1.1 Clone_based_vega_gene ENSG00000228375 tier3 924 0 0 674 467 40.8931698774081 481 76 13.6445242369838 9 87204787 87204787 C T SNP ENSG00000228095 ENST00000419515 human ensembl 70_37 -1 known 3_prime_flanking_region c.*14239 NULL 0.007 - - - no_coding_region:pseudogene RP11-361M4.1 Clone_based_vega_gene ENSG00000228095 tier3 1039 0 0 1184 191 13.8909090909091 552 4 0.719424460431655 9 87317229 87317229 G A SNP NTRK2 ENST00000277120 human ensembl 70_37 +1 known intronic c.288-34 e3-34 0.128 - - - no_errors NTRK2 HGNC ENSG00000148053 tier3 754 1 0.132450331125828 471 410 46.5380249716232 348 50 12.4378109452736 9 87536581 87536581 A G SNP NTRK2 ENST00000277120 human ensembl 70_37 +1 known intronic c.1634-12496 e14-12496 0.001 - - - no_errors NTRK2 HGNC ENSG00000148053 tier3 613 0 0 799 1 0.125 313 3 0.949367088607595 9 87758785 87758785 C A SNP ENSG00000226590 ENST00000414685 human ensembl 70_37 +1 known 5_prime_flanking_region c.-15812 NULL 0.000 - - - no_coding_region:pseudogene RP11-323N23.1 Clone_based_vega_gene ENSG00000226590 tier3 761 0 0 516 351 40.4844290657439 335 48 12.532637075718 9 88530034 88530034 T C SNP NAA35 ENST00000361671 human ensembl 70_37 +1 known 5_prime_flanking_region c.-27041 NULL 0.000 - - - no_errors NAA35 HGNC ENSG00000135040 tier3 492 0 0 683 4 0.582241630276565 296 2 0.671140939597315 9 89409439 89409439 A C SNP - - - - - - - - - - - - - - - - - - tier3 711 0 0 846 1 0.118063754427391 299 7 2.28758169934641 9 89862996 89862996 T G SNP ENSG00000212421 ENST00000391119 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-12369 NULL 0.000 - - - no_errors SNORA26 RFAM ENSG00000212421 tier3 1022 0 0 1479 3 0.202429149797571 415 1 0.240384615384615 9 90001842 90001842 T G SNP ENSG00000228373 ENST00000454946 human ensembl 70_37 +1 known 5_prime_flanking_region c.-36704 NULL 0.002 - - - no_coding_region:pseudogene RP11-497K15.1 Clone_based_vega_gene ENSG00000228373 tier3 1005 0 0 1346 2 0.148257968865827 430 0 0 9 91236987 91236987 A G SNP NXNL2 ENST00000487646 human ensembl 70_37 +1 known 3_prime_flanking_region c.*77525 NULL 0.005 - - - no_errors NXNL2 HGNC ENSG00000130045 tier4 596 0 0 784 2 0.254452926208651 313 0 0 9 91304237 91304237 C G SNP ENSG00000228189 ENST00000418343 human ensembl 70_37 -1 known 5_prime_flanking_region c.-37186 NULL 0.507 - - - no_errors RP13-60M5.2 Clone_based_vega_gene ENSG00000228189 tier4 1258 0 0 1802 2 0.110741971207087 637 0 0 9 92282445 92282445 A T SNP ENSG00000237372 ENST00000444374 human ensembl 70_37 +1 putative 5_prime_flanking_region c.-34121 NULL 0.000 - - - no_errors RP11-316P17.2 Clone_based_vega_gene ENSG00000237372 tier4 3166 1 0.0315159155373464 2417 2047 45.82493843743 664 142 17.487684729064 9 93736994 93736994 A C SNP ENSG00000228216 ENST00000427745 human ensembl 70_37 -1 known 5_prime_flanking_region c.-9319 NULL 0.002 - - - no_errors RP11-367F23.1 Clone_based_vega_gene ENSG00000228216 tier3 534 0 0 601 3 0.496688741721854 229 0 0 9 94406104 94406104 G A SNP ROR2 ENST00000375715 human ensembl 70_37 -1 putative intronic c.2115+50498 e10+50498 1.000 - - - no_errors ROR2 HGNC ENSG00000169071 tier2 801 0 0 522 489 48.3679525222552 399 76 15.9329140461216 9 96695039 96695039 T G SNP ENSG00000235601 ENST00000453045 human ensembl 70_37 +1 known 5_prime_flanking_region c.-23077 NULL 0.033 - - - no_errors RP11-231K24.2 Clone_based_vega_gene ENSG00000235601 tier4 380 0 0 508 3 0.587084148727984 183 0 0 9 100319155 100319155 A G SNP TMOD1 ENST00000259365 human ensembl 70_37 +1 known intronic c.397+3473 e3+3473 0.000 - - - no_errors TMOD1 HGNC ENSG00000136842 tier3 662 0 0 977 2 0.204290091930541 311 1 0.320512820512821 9 101393124 101393124 T G SNP GABBR2 ENST00000259455 human ensembl 70_37 -1 known intronic c.322-52770 e2-52770 0.000 - - - no_errors GABBR2 HGNC ENSG00000136928 tier4 840 0 0 1180 2 0.168918918918919 444 0 0 9 101529027 101529027 A T SNP ANKS6 ENST00000375018 human ensembl 70_37 -1 known intronic c.2142+1336 e11+1336 0.000 - - - no_errors ANKS6 HGNC ENSG00000165138 tier3 1374 2 0.145348837209302 979 889 47.5910064239829 451 100 18.1488203266788 9 101680253 101680253 A G SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known 5_prime_flanking_region c.-26091 NULL 0.000 - - - no_errors COL15A1 HGNC ENSG00000204291 tier3 513 0 0 314 223 41.3729128014842 213 31 12.7049180327869 9 101798811 101798811 A C SNP COL15A1 ENST00000375001 human ensembl 70_37 +1 known intronic c.2409+133 e21+133 0.001 - - - no_errors COL15A1 HGNC ENSG00000204291 tier2 426 0 0 595 3 0.501672240802676 192 0 0 9 103554922 103554922 A G SNP - - - - - - - - - - - - - - - - - - tier4 1676 0 0 2390 10 0.416666666666667 616 1 0.162074554294976 9 103726562 103726562 A G SNP GAPDHP26 ENST00000436818 human ensembl 70_37 +1 known 5_prime_flanking_region c.-11388 NULL 0.002 - - - no_coding_region:pseudogene GAPDHP26 HGNC ENSG00000229541 tier4 336 0 0 411 3 0.72463768115942 183 0 0 9 103937804 103937804 G A SNP LPPR1 ENST00000374874 human ensembl 70_37 +1 known intronic c.1-9928 e1-9928 0.000 - - - no_errors LPPR1 Uniprot_genename ENSG00000148123 tier3 1038 0 0 1245 31 2.4275646045419 437 0 0 9 105512148 105512148 A C SNP - - - - - - - - - - - - - - - - - - tier3 1571 0 0 2018 4 0.19782393669634 597 4 0.665557404326123 9 105617175 105617175 G A SNP - - - - - - - - - - - - - - - - - - tier3 1172 0 0 857 639 42.628418945964 520 103 16.5064102564103 9 106093175 106093175 G T SNP ENSG00000225564 ENST00000411575 human ensembl 70_37 -1 known 5_prime_flanking_region c.-5859 NULL 0.000 - - - no_errors RP11-341A22.2 Clone_based_vega_gene ENSG00000225564 tier3 1531 1 0.0652741514360313 1066 750 41.2995594713656 589 114 16.2162162162162 9 106093176 106093176 C A SNP ENSG00000225564 ENST00000411575 human ensembl 70_37 -1 known 5_prime_flanking_region c.-5860 NULL 0.000 - - - no_errors RP11-341A22.2 Clone_based_vega_gene ENSG00000225564 tier3 1528 1 0.065402223675605 1066 746 41.1699779249448 585 111 15.948275862069 9 106263104 106263104 T A SNP - - - - - - - - - - - - - - - - - - tier4 814 0 0 955 58 5.72556762092794 340 0 0 9 106758347 106758347 C G SNP - - - - - - - - - - - - - - - - - - tier4 363 0 0 231 205 47.0183486238532 166 26 13.5416666666667 9 107009564 107009564 T A SNP ENSG00000242111 ENST00000469756 human ensembl 70_37 +1 known 5_prime_flanking_region c.-22967 NULL 0.000 - - - no_errors RP11-86L19.2 Clone_based_vega_gene ENSG00000242111 tier3 867 0 0 1174 5 0.424088210347752 420 0 0 9 109155434 109155434 C A SNP ENSG00000234323 ENST00000435485 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-308N19.1 Clone_based_vega_gene ENSG00000234323 tier4 507 0 0 663 2 0.300751879699248 297 4 1.31147540983607 9 109310509 109310509 T G SNP ENSG00000234323 ENST00000425709 human ensembl 70_37 +1 known intronic c.NULL NULL 0.218 - - - no_errors RP11-308N19.1 Clone_based_vega_gene ENSG00000234323 tier4 1257 0 0 1847 1 0.0541125541125541 606 3 0.492610837438424 9 109674338 109674338 C T SNP ZNF462 ENST00000457913 human ensembl 70_37 +1 known intronic c.1-11297 e1-11297 0.000 - - - no_errors ZNF462 HGNC ENSG00000148143 tier3 1176 0 0 1000 437 30.410577592206 538 0 0 9 110131208 110131208 G C SNP RAD23B ENST00000358015 human ensembl 70_37 +1 known 3_prime_flanking_region c.*39271 NULL 0.000 - - - no_errors RAD23B HGNC ENSG00000119318 tier4 823 0 0 1280 2 0.15552099533437 466 0 0 9 110670691 110670691 G C SNP RNA5SP293 ENST00000410527 human ensembl 70_37 -1 known 3_prime_flanking_region c.*10456 NULL 0.001 - - - no_errors RNA5SP293 HGNC ENSG00000222459 tier4 761 0 0 1040 3 0.28735632183908 385 5 1.25628140703518 9 110721183 110721183 T C SNP RNA5SP293 ENST00000410527 human ensembl 70_37 -1 known 5_prime_flanking_region c.-39924 NULL 0.053 - - - no_errors RNA5SP293 HGNC ENSG00000222459 tier3 1036 0 0 1427 3 0.203804347826087 483 0 0 9 111789894 111789894 G C SNP TMEM245 ENST00000374586 human ensembl 70_37 -1 known intronic c.2594+5693 e17+5693 0.035 - - - no_errors TMEM245 HGNC ENSG00000106771 tier4 550 0 0 835 7 0.829383886255924 274 0 0 9 112648243 112648243 A C SNP PALM2-AKAP2 ENST00000374530 human ensembl 70_37 +1 known intronic c.257+5282 e3+5282 0.001 - - - no_errors PALM2-AKAP2 HGNC ENSG00000157654 tier3 928 0 0 1239 2 0.161030595813205 437 0 0 9 113234426 113234426 A G SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known intronic c.2764+13 e15+13 0.000 - - - no_errors SVEP1 HGNC ENSG00000165124 tier3 1519 1 0.0657894736842105 1078 756 41.2213740458015 607 125 17.0299727520436 9 114781145 114781145 T G SNP ENSG00000222356 ENST00000410424 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-22126 NULL 0.016 - - - no_errors U6 RFAM ENSG00000222356 tier3 1201 0 0 1823 3 0.164203612479475 560 1 0.17825311942959 9 114939829 114939829 A C SNP SUSD1 ENST00000374264 human ensembl 70_37 -1 known 5_prime_flanking_region c.-2314 NULL 0.761 - - - no_errors SUSD1 HGNC ENSG00000106868 tier3 1251 0 0 2001 4 0.199401794616152 598 0 0 9 115250340 115250340 T A SNP KIAA1958 ENST00000536272 human ensembl 70_37 +1 known intronic c.1+942 e0+942 0.064 - - - no_errors KIAA1958 HGNC ENSG00000165185 tier3 612 0 0 894 2 0.223214285714286 368 6 1.60427807486631 9 117465095 117465095 G A SNP LOC100996601 ENST00000415101 human ensembl 70_37 -1 known 5_prime_flanking_region c.-40441 NULL 0.116 - - - no_errors RP11-402G3.5 Clone_based_vega_gene ENSG00000230054 tier4 490 1 0.203252032520325 378 317 45.6115107913669 161 49 23.1132075471698 9 118076591 118076591 A G SNP DEC1 ENST00000477580 human ensembl 70_37 +1 known rna NULL NULL 0.049 - - - no_errors DEC1 HGNC ENSG00000173077 tier1 782 0 0 1061 2 0.18796992481203 283 0 0 9 118641392 118641392 T G SNP LINC00474 ENST00000374014 human ensembl 70_37 -1 known 3_prime_flanking_region c.*9056 NULL 0.000 - - - no_errors LINC00474 HGNC ENSG00000204148 tier3 1192 1 0.0838222967309304 818 758 48.0659480025365 490 101 17.0896785109983 9 118775286 118775286 A G SNP ENSG00000228707 ENST00000416507 human ensembl 70_37 +1 known 3_prime_flanking_region c.*42 NULL 0.001 - - - no_errors RP11-787B4.2 Clone_based_vega_gene ENSG00000228707 tier4 837 0 0 980 2 0.203665987780041 418 1 0.238663484486874 9 118891268 118891268 T C SNP PAPPA ENST00000328252 human ensembl 70_37 +1 known 5_prime_flanking_region c.-25184 NULL 0.006 - - - no_errors PAPPA HGNC ENSG00000182752 tier4 651 0 0 840 6 0.709219858156028 322 1 0.309597523219814 9 120086405 120086405 A C SNP ASTN2 ENST00000313400 human ensembl 70_37 -1 known intronic c.443-32613 e2-32613 0.000 - - - no_errors ASTN2 HGNC ENSG00000148219 tier4 752 0 0 940 1 0.106269925611052 314 2 0.632911392405063 9 120651860 120651860 A T SNP ENSG00000231901 ENST00000449730 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-281A20.1 Clone_based_vega_gene ENSG00000231901 tier4 760 0 0 961 2 0.20746887966805 334 1 0.298507462686567 9 120914527 120914527 A C SNP - - - - - - - - - - - - - - - - - - tier3 1173 1 0.0851063829787234 802 655 44.9245541838134 439 108 19.7440585009141 9 122085896 122085896 A C SNP DBC1 ENST00000265922 human ensembl 70_37 -1 known intronic c.1-10213 e1-10213 0.000 - - - no_errors DBC1 HGNC ENSG00000078725 tier4 1286 0 0 1792 2 0.11142061281337 599 0 0 9 122498650 122498650 C T SNP - - - - - - - - - - - - - - - - - - tier3 942 1 0.105932203389831 654 516 44.0273037542662 363 79 17.7927927927928 9 122797076 122797076 G T SNP - - - - - - - - - - - - - - - - - - tier4 1166 4 0.341880341880342 1430 39 2.65486725663717 518 3 0.575815738963532 9 124037177 124037177 G T SNP GSN ENST00000394353 human ensembl 70_37 +1 known intronic c.1-6571 e1-6571 0.721 - - - no_errors GSN HGNC ENSG00000148180 tier4 479 1 0.208333333333333 462 247 34.8377997179126 272 0 0 9 127817347 127817347 A C SNP SCAI ENST00000373549 human ensembl 70_37 -1 known intronic c.299+808 e4+808 0.115 - - - no_errors SCAI HGNC ENSG00000173611 tier3 1215 0 0 2068 3 0.144857556735876 588 0 0 9 127856626 127856626 T C SNP SCAI ENST00000373549 human ensembl 70_37 -1 known intronic c.99-28289 e3-28289 0.033 - - - no_errors SCAI HGNC ENSG00000173611 tier4 390 0 0 579 2 0.344234079173838 292 0 0 9 128107106 128107106 G T SNP GAPVD1 ENST00000394105 human ensembl 70_37 +1 known intronic c.3128-1992 e18-1992 0.001 - - - no_errors GAPVD1 HGNC ENSG00000165219 tier3 841 0 0 1392 4 0.286532951289398 400 0 0 9 128343089 128343089 C T SNP MAPKAP1 ENST00000265960 human ensembl 70_37 -1 known intronic c.671+4745 e4+4745 0.238 - - - no_errors MAPKAP1 HGNC ENSG00000119487 tier4 912 0 0 1232 1 0.08110300081103 425 35 7.60869565217391 9 130290388 130290388 T G SNP FAM129B ENST00000373312 human ensembl 70_37 -1 known intronic c.187-787 e3-787 0.000 - - - no_errors FAM129B HGNC ENSG00000136830 tier3 300 0 0 506 2 0.393700787401575 213 0 0 9 131279343 131279343 T G SNP GLE1 ENST00000309971 human ensembl 70_37 +1 known intronic c.432+1425 e3+1425 0.384 - - - no_errors GLE1 HGNC ENSG00000119392 tier4 1243 0 0 2182 3 0.137236962488564 395 0 0 9 134412032 134412032 G C SNP UCK1 ENST00000372211 human ensembl 70_37 -1 known 5_prime_flanking_region c.-5471 NULL 0.007 - - - no_errors UCK1 HGNC ENSG00000130717 tier4 690 0 0 1098 10 0.901713255184851 380 8 2.03562340966921 9 134605064 134605064 A C SNP RAPGEF1 ENST00000357686 human ensembl 70_37 -1 known intronic c.61+10093 e1+10093 0.027 - - - no_errors RAPGEF1 HGNC ENSG00000107263 tier4 519 0 0 807 4 0.493218249075216 332 1 0.3003003003003 9 134924464 134924464 G A SNP MED27 ENST00000292035 human ensembl 70_37 -1 known intronic c.348+28365 e2+28365 0.866 - - - no_errors MED27 HGNC ENSG00000160563 tier3 767 27 3.40050377833753 525 454 46.3265306122449 311 77 19.8453608247423 9 135385742 135385742 C T SNP C9orf171 ENST00000343036 human ensembl 70_37 +1 known intronic c.632+10755 e4+10755 0.001 - - - no_errors C9orf171 HGNC ENSG00000188523 tier3 306 0 0 229 167 42.1717171717172 134 21 13.5483870967742 9 136736824 136736824 A C SNP VAV2 ENST00000371850 human ensembl 70_37 -1 known intronic c.322-10270 e3-10270 0.000 - - - no_errors VAV2 HGNC ENSG00000160293 tier4 460 0 0 703 3 0.424929178470255 240 0 0 9 137704747 137704747 T G SNP COL5A1 ENST00000371817 human ensembl 70_37 +1 known intronic c.3852+189 e48+189 0.000 - - - no_errors COL5A1 HGNC ENSG00000130635 tier3 578 0 0 768 3 0.389105058365759 285 0 0 9 137843241 137843241 A T SNP FCN1 ENST00000371806 human ensembl 70_37 -1 known 5_prime_flanking_region c.-33524 NULL 0.000 - - - no_errors FCN1 HGNC ENSG00000085265 tier3 589 0 0 387 325 45.6460674157303 239 69 22.1864951768489 9 140250178 140250178 G A SNP EXD3 ENST00000340951 human ensembl 70_37 -1 known intronic c.757+542 e7+542 0.189 - - - no_errors EXD3 HGNC ENSG00000187609 tier4 557 0 0 969 1 0.102986611740474 311 4 1.25391849529781 9 140292631 140292631 G A SNP EXD3 ENST00000340951 human ensembl 70_37 -1 known intronic c.1-2775 e1-2775 0.000 - - - no_errors EXD3 HGNC ENSG00000187609 tier3 469 0 0 397 352 46.9959946595461 195 42 17.4273858921162 9 140705003 140705003 A T SNP EHMT1 ENST00000460843 human ensembl 70_37 +1 known intronic c.2713-910 e19-910 0.012 - - - no_errors EHMT1 HGNC ENSG00000181090 tier3 689 0 0 913 2 0.218579234972678 397 0 0 10 720124 720124 G A SNP DIP2C ENST00000280886 human ensembl 70_37 -1 known intronic c.85+15310 e1+15310 0.058 - - - no_errors DIP2C HGNC ENSG00000151240 tier4 970 0 0 1195 4 0.333611342785655 390 2 0.50251256281407 10 3067396 3067396 G T SNP PFKP ENST00000381125 human ensembl 70_37 +1 known 5_prime_flanking_region c.-42392 NULL 0.001 - - - no_errors PFKP HGNC ENSG00000067057 tier3 1079 0 0 1474 3 0.20297699594046 505 2 0.394477317554241 10 3601520 3601520 G T SNP ENSG00000236892 ENST00000413757 human ensembl 70_37 -1 known 5_prime_flanking_region c.-22471 NULL 0.000 - - - no_errors RP11-482E14.2 Clone_based_vega_gene ENSG00000236892 tier3 616 0 0 790 1 0.126262626262626 294 5 1.67224080267559 10 4952973 4952973 T C SNP AKR1C1 ENST00000434459 human ensembl 70_37 +1 known intronic c.1+1175 e0+1175 0.071 - - - no_errors AKR1C1 HGNC ENSG00000187134 tier4 219 0 0 312 2 0.634920634920635 102 1 0.970873786407767 10 5100819 5100819 C T SNP AKR1C3 ENST00000470862 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors AKR1C3 HGNC ENSG00000196139 tier4 421 0 0 367 220 37.4787052810903 210 26 11.0169491525424 10 8651951 8651951 T A SNP ENSG00000236420 ENST00000425516 human ensembl 70_37 +1 known 5_prime_flanking_region c.-9945 NULL 0.001 - - - no_coding_region:pseudogene RP11-33K5.1 Clone_based_vega_gene ENSG00000236420 tier4 1033 0 0 1310 4 0.30441400304414 351 2 0.56657223796034 10 8662119 8662119 C A SNP ENSG00000236420 ENST00000425516 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*8662119 NULL 0.003 - - - no_coding_region:pseudogene RP11-33K5.1 Clone_based_vega_gene ENSG00000236420 tier3 800 2 0.249376558603491 463 475 50.6396588486141 350 66 15.8653846153846 10 9397525 9397525 T G SNP - - - - - - - - - - - - - - - - - - tier3 944 0 0 1297 9 0.689127105666156 451 5 1.09170305676856 10 9570421 9570421 T C SNP - - - - - - - - - - - - - - - - - - tier4 1271 0 0 1686 3 0.177619893428064 581 0 0 10 13759012 13759012 T G SNP FRMD4A ENST00000357447 human ensembl 70_37 -1 known intronic c.760-9899 e12-9899 0.000 - - - no_errors FRMD4A HGNC ENSG00000151474 tier3 670 0 0 1010 3 0.296150049358342 431 2 0.46189376443418 10 18448907 18448907 A T SNP CACNB2 ENST00000324631 human ensembl 70_37 +1 known intronic c.213+9003 e2+9003 0.001 - - - no_errors CACNB2 HGNC ENSG00000165995 tier3 1615 2 0.123609394313968 1223 874 41.6587225929457 584 108 15.606936416185 10 19384821 19384821 C T SNP ENSG00000226255 ENST00000434717 human ensembl 70_37 +1 known 3_prime_flanking_region c.*43722 NULL 0.000 - - - no_coding_region:pseudogene RP11-288D15.2 Clone_based_vega_gene ENSG00000226255 tier3 870 1 0.114810562571757 994 161 13.9393939393939 441 0 0 10 19816978 19816978 T A SNP C10orf112 ENST00000454679 human ensembl 70_37 +1 known intronic c.3419-3145 e18-3145 0.082 - - - no_errors C10orf112 HGNC ENSG00000204740 tier3 1162 0 0 1618 4 0.246305418719212 445 1 0.223713646532438 10 20340323 20340323 A T SNP PLXDC2 ENST00000377252 human ensembl 70_37 +1 known intronic c.471+4379 e3+4379 0.001 - - - no_errors PLXDC2 HGNC ENSG00000120594 tier4 573 0 0 769 2 0.259403372243839 211 0 0 10 21868065 21868065 G T SNP MLLT10 ENST00000307729 human ensembl 70_37 +1 known intronic c.241-7158 e3-7158 0.019 - - - no_errors MLLT10 HGNC ENSG00000078403 tier4 1355 3 0.220913107511046 1081 893 45.2380952380952 542 166 23.3802816901408 10 22213599 22213599 C T SNP DNAJC1 ENST00000376980 human ensembl 70_37 -1 known intronic c.372-3707 e4-3707 0.001 - - - no_errors DNAJC1 HGNC ENSG00000136770 tier3 895 0 0 939 396 29.6407185628743 456 0 0 10 24409277 24409277 C T SNP KIAA1217 ENST00000376462 human ensembl 70_37 +1 putative intronic c.1-99278 e1-99278 0.000 - - - no_errors KIAA1217 HGNC ENSG00000120549 tier3 1420 0 0 1350 535 28.3819628647215 689 0 0 10 24664080 24664080 T G SNP KIAA1217 ENST00000376454 human ensembl 70_37 +1 known intronic c.355-5718 e3-5718 0.107 - - - no_errors KIAA1217 HGNC ENSG00000120549 tier3 353 0 0 475 2 0.419287211740042 175 2 1.11731843575419 10 25926749 25926749 T C SNP LOC100507531 ENST00000450270 human ensembl 70_37 +1 known 5_prime_flanking_region c.-13955 NULL 0.001 - - - no_errors RP11-307B23.1 Clone_based_vega_gene ENSG00000228690 tier4 803 0 0 1087 4 0.366636113657195 282 0 0 10 26306226 26306226 T G SNP MYO3A ENST00000265944 human ensembl 70_37 +1 known intronic c.585+401 e5+401 0.001 - - - no_errors MYO3A HGNC ENSG00000095777 tier3 724 0 0 1056 3 0.283018867924528 347 1 0.285714285714286 10 26626086 26626086 T C SNP GAD2 ENST00000259271 human ensembl 70_37 +1 known 3_prime_flanking_region c.*36196 NULL 0.001 - - - no_errors GAD2 HGNC ENSG00000136750 tier3 658 0 0 953 2 0.209424083769634 322 0 0 10 26978026 26978026 G T SNP PDSS1 ENST00000376215 human ensembl 70_37 +1 known 5_prime_flanking_region c.-8615 NULL 0.001 - - - no_errors PDSS1 HGNC ENSG00000148459 tier3 684 0 0 997 2 0.2002002002002 326 4 1.20481927710843 10 28093699 28093699 T G SNP ARMC4 ENST00000537576 human ensembl 70_37 -1 known intronic c.2098-3918 e14-3918 0.002 - - - no_errors ARMC4 HGNC ENSG00000169126 tier3 1381 0 0 1754 1 0.056980056980057 719 4 0.553250345781466 10 28741611 28741611 A G SNP ENSG00000237128 ENST00000421132 human ensembl 70_37 -1 known intronic c.NULL NULL 0.065 - - - no_errors RP11-351M16.3 Clone_based_vega_gene ENSG00000237128 tier4 1336 0 0 1903 2 0.10498687664042 527 1 0.188679245283019 10 29090407 29090407 A C SNP C10orf126 ENST00000375520 human ensembl 70_37 +1 known 5_prime_flanking_region c.-45763 NULL 0.008 - - - no_errors C10orf126 HGNC ENSG00000204365 tier4 1771 0 0 2425 2 0.0823723228995058 617 0 0 10 30300247 30300247 T C SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known 3_prime_flanking_region c.*6565 NULL 0.001 - - - no_errors KIAA1462 HGNC ENSG00000165757 tier3 427 0 0 627 4 0.632911392405063 306 2 0.649350649350649 10 30307689 30307689 T C SNP KIAA1462 ENST00000375377 human ensembl 70_37 -1 known intronic c.4046-843 e3-843 0.075 - - - no_errors KIAA1462 HGNC ENSG00000165757 tier3 410 0 0 582 1 0.171526586620926 234 4 1.68067226890756 10 30981210 30981210 T G SNP ENSG00000234814 ENST00000422642 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_coding_region:pseudogene RP11-14C22.4 Clone_based_vega_gene ENSG00000234814 tier4 1262 0 0 931 912 49.4577006507592 574 149 20.6085753803596 10 31149265 31149265 T C SNP ZNF438 ENST00000361310 human ensembl 70_37 -1 known intronic c.38-9969 e2-9969 0.031 - - - no_errors ZNF438 HGNC ENSG00000183621 tier4 919 0 0 672 511 43.1952662721893 346 109 23.7472766884532 10 31528139 31528139 A G SNP RNA5SP309 ENST00000516670 human ensembl 70_37 +1 known 5_prime_flanking_region c.-20389 NULL 0.362 - - - no_errors RNA5SP309 HGNC ENSG00000252479 tier4 929 0 0 1284 3 0.232919254658385 575 0 0 10 31693279 31693279 A C SNP ZEB1 ENST00000361642 human ensembl 70_37 +1 known intronic c.59-56687 e2-56687 0.010 - - - no_errors ZEB1 HGNC ENSG00000148516 tier3 858 0 0 1309 1 0.0763358778625954 390 3 0.763358778625954 10 31768612 31768612 A C SNP ZEB1 ENST00000361642 human ensembl 70_37 +1 known intronic c.260-16093 e3-16093 0.005 - - - no_errors ZEB1 HGNC ENSG00000148516 tier3 1048 0 0 785 669 46.0110041265475 473 104 18.0242634315425 10 32542649 32542649 T G SNP ENSG00000227253 ENST00000415731 human ensembl 70_37 +1 known 5_prime_flanking_region c.-12568 NULL 0.000 - - - no_errors RP11-166N17.1 Clone_based_vega_gene ENSG00000227253 tier3 892 0 0 1393 2 0.143266475644699 371 0 0 10 32983360 32983360 T A SNP C10orf68 ENST00000375025 human ensembl 70_37 +1 known intronic c.266-447 e4-447 0.125 - - - no_errors C10orf68 HGNC ENSG00000150076 tier4 574 0 0 647 76 10.5117565698479 382 2 0.520833333333333 10 33446317 33446317 C T SNP ENSG00000233387 ENST00000414308 human ensembl 70_37 -1 known 5_prime_flanking_region c.-40717 NULL 0.000 - - - no_errors RP11-342D11.3 Clone_based_vega_gene ENSG00000233387 tier3 857 2 0.232828870779977 564 434 43.4869739478958 396 81 16.9811320754717 10 35192720 35192720 A C SNP ENSG00000222909 ENST00000410977 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-39177 NULL 0.014 - - - no_errors U6 RFAM ENSG00000222909 tier4 1425 0 0 2276 5 0.219202104340202 766 0 0 10 36805960 36805960 C A SNP NAMPTL ENST00000543053 human ensembl 70_37 -1 known 3_prime_flanking_region c.*5784 NULL 0.079 - - - no_errors NAMPTL HGNC ENSG00000229644 tier4 2090 0 0 2992 2 0.0667779632721202 758 0 0 10 37913073 37913073 T G SNP MTRNR2L7 ENST00000544824 human ensembl 70_37 -1 known 5_prime_flanking_region c.-22101 NULL 0.109 - - - no_errors MTRNR2L7 HGNC ENSG00000256892 tier4 2811 0 0 3789 2 0.0527426160337553 753 0 0 10 38563836 38563836 G C SNP ENSG00000226113 ENST00000450980 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-672F9.1 Clone_based_vega_gene ENSG00000226113 tier3 1526 0 0 2035 2 0.0981836033382425 711 0 0 10 38777958 38777958 A G SNP CICP9 ENST00000444451 human ensembl 70_37 -1 known 5_prime_flanking_region c.-33665 NULL 0.000 - - - no_coding_region:pseudogene CICP9 HGNC ENSG00000228882 tier4 1292 0 0 1888 2 0.105764145954521 553 0 0 10 39079760 39079760 T G SNP ENSG00000227679 ENST00000423458 human ensembl 70_37 -1 known 5_prime_flanking_region c.-24138 NULL 0.000 - - - no_coding_region:pseudogene RP11-453N3.1 Clone_based_vega_gene ENSG00000227679 tier4 526 0 0 580 2 0.340715502555366 275 0 0 10 39112178 39112178 T C SNP ENSG00000233832 ENST00000427864 human ensembl 70_37 +1 known 3_prime_flanking_region c.*35939 NULL 0.000 - - - no_coding_region:pseudogene RP11-96F8.1 Clone_based_vega_gene ENSG00000233832 tier4 407 0 0 567 2 0.351493848857645 256 0 0 10 39112260 39112260 C A SNP ENSG00000233832 ENST00000427864 human ensembl 70_37 +1 known 3_prime_flanking_region c.*36021 NULL 0.000 - - - no_coding_region:pseudogene RP11-96F8.1 Clone_based_vega_gene ENSG00000233832 tier4 369 0 0 511 3 0.568181818181818 236 4 1.61943319838057 10 39128618 39128618 C T SNP - - - - - - - - - - - - - - - - - - tier4 298 0 0 338 2 0.588235294117647 187 0 0 10 39139100 39139100 G T SNP - - - - - - - - - - - - - - - - - - tier4 674 0 0 886 3 0.337457817772778 409 0 0 10 42356574 42356574 A C SNP - - - - - - - - - - - - - - - - - - tier4 572 0 0 696 2 0.286532951289398 316 0 0 10 42356636 42356636 T A SNP - - - - - - - - - - - - - - - - - - tier4 395 0 0 483 2 0.411522633744856 207 0 0 10 42358577 42358577 C G SNP - - - - - - - - - - - - - - - - - - tier4 137 0 0 196 3 1.5 67 0 0 10 42358586 42358586 C A SNP - - - - - - - - - - - - - - - - - - tier4 149 0 0 207 2 0.943396226415094 81 0 0 10 42358638 42358638 A G SNP - - - - - - - - - - - - - - - - - - tier4 413 0 0 533 2 0.37037037037037 189 6 2.98507462686567 10 42361063 42361063 A G SNP - - - - - - - - - - - - - - - - - - tier4 113 0 0 141 2 1.3986013986014 42 0 0 10 42363281 42363281 A C SNP - - - - - - - - - - - - - - - - - - tier3 124 0 0 149 3 1.97368421052632 71 0 0 10 42375900 42375900 G T SNP - - - - - - - - - - - - - - - - - - tier4 107 0 0 157 3 1.875 84 2 2.32558139534884 10 42378277 42378277 T A SNP - - - - - - - - - - - - - - - - - - tier4 823 0 0 1029 1 0.0969932104752667 520 4 0.763358778625954 10 42380449 42380449 C T SNP - - - - - - - - - - - - - - - - - - tier4 214 0 0 282 3 1.05263157894737 111 0 0 10 42380456 42380456 T C SNP - - - - - - - - - - - - - - - - - - tier4 212 0 0 276 2 0.719424460431655 122 0 0 10 42380494 42380494 C G SNP - - - - - - - - - - - - - - - - - - tier4 105 0 0 142 3 2.06896551724138 71 0 0 10 42399256 42399256 T C SNP - - - - - - - - - - - - - - - - - - tier4 931 0 0 1366 3 0.218978102189781 638 4 0.619195046439629 10 42399654 42399654 A G SNP - - - - - - - - - - - - - - - - - - tier4 377 0 0 575 3 0.519031141868512 234 0 0 10 42407387 42407387 T A SNP - - - - - - - - - - - - - - - - - - tier4 225 0 0 245 2 0.809716599190283 129 0 0 10 42408074 42408074 A T SNP - - - - - - - - - - - - - - - - - - tier4 388 0 0 668 3 0.447093889716841 332 0 0 10 42531931 42531931 C A SNP - - - - - - - - - - - - - - - - - - tier4 72 0 0 111 2 1.76991150442478 80 0 0 10 42531938 42531938 A G SNP - - - - - - - - - - - - - - - - - - tier4 77 0 0 115 2 1.70940170940171 78 0 0 10 42531953 42531953 A G SNP - - - - - - - - - - - - - - - - - - tier4 71 0 0 123 2 1.6 83 0 0 10 42532009 42532009 A C SNP - - - - - - - - - - - - - - - - - - tier4 55 0 0 99 2 1.98019801980198 55 0 0 10 42538579 42538579 T C SNP - - - - - - - - - - - - - - - - - - tier4 950 0 0 1206 2 0.165425971877585 436 2 0.45662100456621 10 42797611 42797611 A C SNP PABPC1P8 ENST00000452851 human ensembl 70_37 -1 known 5_prime_flanking_region c.-20344 NULL 0.000 - - - no_coding_region:pseudogene PABPC1P8 HGNC ENSG00000228755 tier4 457 0 0 605 2 0.329489291598023 216 0 0 10 44046392 44046392 A T SNP ZNF239 ENST00000306006 human ensembl 70_37 -1 known 3_prime_flanking_region c.*5759 NULL 0.041 - - - no_errors ZNF239 HGNC ENSG00000196793 tier4 500 0 0 714 3 0.418410041841004 344 2 0.578034682080925 10 44319834 44319834 G A SNP LINC00619 ENST00000374432 human ensembl 70_37 +1 known 5_prime_flanking_region c.-20920 NULL 0.000 - - - no_errors LINC00619 HGNC ENSG00000204187 tier2 1409 1 0.070871722182849 988 702 41.5384615384615 547 101 15.5864197530864 10 44835619 44835619 A C SNP CXCL12 ENST00000395795 human ensembl 70_37 -1 known intronic c.266+38466 e3+38466 0.002 - - - no_errors CXCL12 HGNC ENSG00000107562 tier3 452 0 0 521 3 0.572519083969466 243 3 1.21951219512195 10 46980236 46980236 A C SNP SYT15 ENST00000374323 human ensembl 70_37 -1 known 5_prime_flanking_region c.-9424 NULL 0.880 - - - no_errors SYT15 HGNC ENSG00000204176 tier3 1116 0 0 1472 1 0.067842605156038 600 2 0.332225913621262 10 47093466 47093466 A C SNP ENSG00000250469 ENST00000503031 human ensembl 70_37 -1 known intronic c.NULL NULL 0.003 - - - no_errors XXyac-YR14BB7.1 Clone_based_vega_gene ENSG00000250469 tier3 1388 0 0 1868 3 0.16025641025641 808 0 0 10 47096413 47096413 A G SNP ENSG00000250469 ENST00000503031 human ensembl 70_37 -1 known intronic c.NULL NULL 0.002 - - - no_errors XXyac-YR14BB7.1 Clone_based_vega_gene ENSG00000250469 tier4 1488 0 0 2255 7 0.309187279151943 804 1 0.123915737298637 10 47361467 47361467 C A SNP FAM35B2 ENST00000323387 human ensembl 70_37 +1 known 5_prime_flanking_region c.-18260 NULL 0.283 - - - no_coding_region:pseudogene FAM35B2 HGNC ENSG00000189014 tier4 1564 0 0 2076 2 0.0962463907603465 735 0 0 10 50272285 50272285 G A SNP VSTM4 ENST00000332853 human ensembl 70_37 -1 known intronic c.668+463 e5+463 0.000 - - - no_errors VSTM4 HGNC ENSG00000165633 tier4 1179 0 0 1520 2 0.131233595800525 498 43 7.94824399260629 10 50932136 50932136 G A SNP ENSG00000226389 ENST00000420752 human ensembl 70_37 +1 known 5_prime_flanking_region c.-47751 NULL 0.000 - - - no_coding_region:pseudogene RP11-507K13.4 Clone_based_vega_gene ENSG00000226389 tier3 486 0 0 349 266 43.2520325203252 206 33 13.8075313807531 10 51058644 51058644 G T SNP PARG ENST00000402038 human ensembl 70_37 -1 known intronic c.898+6708 e9+6708 0.000 - - - no_start_codon PARG HGNC ENSG00000227345 tier3 890 0 0 1223 3 0.244498777506112 430 0 0 10 52396445 52396445 T G SNP SGMS1 ENST00000361781 human ensembl 70_37 -1 known 5_prime_flanking_region c.-292571 NULL 0.001 - - - no_errors SGMS1 HGNC ENSG00000198964 tier3 1065 0 0 1353 3 0.221238938053097 455 0 0 10 52796029 52796029 A C SNP PRKG1 ENST00000401604 human ensembl 70_37 +1 known intronic c.266+44625 e1+44625 0.000 - - - no_errors PRKG1 HGNC ENSG00000185532 tier4 1594 0 0 1128 868 43.4869739478958 656 111 14.4719687092568 10 52801677 52801677 G T SNP PRKG1 ENST00000401604 human ensembl 70_37 +1 known intronic c.266+50273 e1+50273 0.188 - - - no_errors PRKG1 HGNC ENSG00000185532 tier3 937 1 0.106496272630458 658 495 42.9314830875976 378 87 18.7096774193548 10 53727361 53727361 G A SNP PRKG1 ENST00000373980 human ensembl 70_37 +1 known intronic c.762+60031 e5+60031 0.000 - - - no_errors PRKG1 HGNC ENSG00000185532 tier3 452 3 0.657894736842105 338 217 39.0287769784173 269 55 16.8711656441718 10 53817209 53817209 G T SNP PRKG1 ENST00000373980 human ensembl 70_37 +1 known intronic c.840+2888 e6+2888 0.000 - - - no_errors PRKG1 HGNC ENSG00000185532 tier3 998 2 0.2 655 498 43.1542461005199 407 85 17.2064777327935 10 53844586 53844586 C A SNP PRKG1 ENST00000373980 human ensembl 70_37 +1 known intronic c.935+22195 e7+22195 0.001 - - - no_errors PRKG1 HGNC ENSG00000185532 tier4 805 0 0 1044 2 0.191204588910134 395 2 0.50125313283208 10 54113389 54113389 A G SNP ENSG00000236671 ENST00000420193 human ensembl 70_37 -1 known 5_prime_flanking_region c.-39501 NULL 0.000 - - - no_errors RP11-573I11.2 Clone_based_vega_gene ENSG00000236671 tier3 1232 0 0 1683 2 0.118694362017804 577 0 0 10 54221312 54221312 A C SNP ENSG00000231131 ENST00000422763 human ensembl 70_37 -1 known intronic c.NULL NULL 0.955 - - - no_errors RP11-346D6.6 Clone_based_vega_gene ENSG00000231131 tier3 914 0 0 1180 2 0.169204737732657 431 0 0 10 54708179 54708179 T G SNP ENSG00000227121 ENST00000444155 human ensembl 70_37 -1 known 3_prime_flanking_region c.*25069 NULL 0.000 - - - no_errors RP11-319F12.2 Clone_based_vega_gene ENSG00000227121 tier4 830 0 0 1043 2 0.191204588910134 413 0 0 10 54877179 54877179 A C SNP - - - - - - - - - - - - - - - - - - tier4 384 0 0 471 2 0.422832980972516 163 4 2.39520958083832 10 55497321 55497321 T A SNP ENSG00000233805 ENST00000426885 human ensembl 70_37 +1 known 5_prime_flanking_region c.-28839 NULL 0.000 - - - no_coding_region:pseudogene RP11-449J3.3 Clone_based_vega_gene ENSG00000233805 tier4 1780 1 0.0561482313307131 2391 47 1.92780968006563 651 149 18.625 10 55606593 55606593 G C SNP PCDH15 ENST00000320301 human ensembl 70_37 -1 known intronic c.3807-6337 e28-6337 0.000 - - - no_errors PCDH15 HGNC ENSG00000150275 tier4 892 0 0 1260 2 0.158102766798419 452 0 0 10 57990659 57990659 G C SNP - - - - - - - - - - - - - - - - - - tier3 715 0 0 1036 2 0.192492781520693 342 0 0 10 58403008 58403008 T C SNP ENSG00000238707 ENST00000458762 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-47217 NULL 0.022 - - - no_errors SNORD2 RFAM ENSG00000238707 tier4 705 0 0 451 385 46.0526315789474 282 85 23.1607629427793 10 58878299 58878299 A C SNP - - - - - - - - - - - - - - - - - - tier3 588 0 0 778 1 0.127877237851662 268 3 1.1070110701107 10 59083790 59083790 A G SNP MIR3924 ENST00000583084 human ensembl 70_37 -1 known 5_prime_flanking_region c.-19471 NULL 0.000 - - - no_errors MIR3924 HGNC ENSG00000264747 tier3 1253 1 0.0797448165869219 770 674 46.6759002770083 403 112 21.6634429400387 10 59643343 59643343 C T SNP - - - - - - - - - - - - - - - - - - tier3 1318 2 0.151515151515152 887 710 44.4583594239199 549 120 17.9372197309417 10 60813025 60813025 T G SNP ENSG00000226888 ENST00000413972 human ensembl 70_37 -1 known 3_prime_flanking_region c.*35436 NULL 0.000 - - - no_coding_region:pseudogene RP11-561G1.3 Clone_based_vega_gene ENSG00000226888 tier3 1303 0 0 1771 3 0.169109357384442 583 0 0 10 61110523 61110523 A C SNP FAM13C ENST00000373868 human ensembl 70_37 -1 known intronic c.324+1507 e3+1507 0.004 - - - no_errors FAM13C HGNC ENSG00000148541 tier3 757 0 0 1095 2 0.182315405651778 346 3 0.857142857142857 10 61416823 61416823 A G SNP SLC16A9 ENST00000395347 human ensembl 70_37 -1 known intronic c.437-2476 e4-2476 0.000 - - - no_errors SLC16A9 HGNC ENSG00000165449 tier4 1538 1 0.0649772579597141 1149 985 46.135831381733 496 129 20.64 10 61529344 61529344 C T SNP SLC16A9 ENST00000395347 human ensembl 70_37 -1 known 5_prime_flanking_region c.-85295 NULL 0.088 - - - no_errors SLC16A9 HGNC ENSG00000165449 tier4 252 0 0 374 4 1.05820105820106 225 6 2.5974025974026 10 63893206 63893206 G C SNP ARID5B ENST00000279873 human ensembl 70_37 +1 known 3_prime_flanking_region c.*40417 NULL 0.555 - - - no_errors ARID5B HGNC ENSG00000150347 tier4 1228 0 0 925 665 41.8238993710692 535 109 16.8730650154799 10 64835104 64835104 T G SNP ENSG00000199446 ENST00000362576 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-34795 NULL 0.256 - - - no_errors U6 RFAM ENSG00000199446 tier3 962 0 0 1468 5 0.339443312966735 416 2 0.478468899521531 10 65910650 65910650 T C SNP ENSG00000235489 ENST00000412976 human ensembl 70_37 -1 known 3_prime_flanking_region c.*18070 NULL 0.001 - - - no_coding_region:pseudogene RP11-386C23.1 Clone_based_vega_gene ENSG00000235489 tier4 1387 0 0 927 754 44.854253420583 560 122 17.8885630498534 10 66226768 66226768 A T SNP - - - - - - - - - - - - - - - - - - tier3 954 0 0 1140 2 0.175131348511384 478 0 0 10 66551540 66551540 G T SNP ANXA2P3 ENST00000404883 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33789 NULL 0.000 - - - no_coding_region:pseudogene ANXA2P3 HGNC ENSG00000216740 tier3 1069 1 0.0932835820895522 1457 8 0.545702592087312 465 8 1.69133192389006 10 66906357 66906357 C T SNP MYL6P3 ENST00000436904 human ensembl 70_37 -1 known 3_prime_flanking_region c.*22839 NULL 0.001 - - - no_coding_region:pseudogene MYL6P3 HGNC ENSG00000227173 tier4 871 0 0 1066 2 0.187090739008419 438 0 0 10 67083277 67083277 A C SNP ENSG00000235356 ENST00000428346 human ensembl 70_37 +1 known 3_prime_flanking_region c.*8549 NULL 0.037 - - - no_errors RP11-428G2.1 Clone_based_vega_gene ENSG00000235356 tier4 810 0 0 1081 2 0.184672206832872 345 1 0.289017341040462 10 67810179 67810179 T C SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known intronic c.2159+18887 e14+18887 0.001 - - - no_errors CTNNA3 HGNC ENSG00000183230 tier3 1066 0 0 754 604 44.4771723122239 439 93 17.4157303370787 10 67990360 67990360 C T SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known intronic c.1884+49868 e12+49868 0.004 - - - no_errors CTNNA3 HGNC ENSG00000183230 tier4 804 1 0.124069478908189 578 498 46.2395543175487 318 82 20.5 10 68221463 68221463 C A SNP CTNNA3 ENST00000373744 human ensembl 70_37 -1 known intronic c.1531+58912 e10+58912 0.022 - - - no_errors CTNNA3 HGNC ENSG00000183230 tier3 609 3 0.490196078431373 798 25 3.03766707168894 261 2 0.760456273764259 10 72931911 72931911 C T SNP UNC5B ENST00000335350 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40832 NULL 0.000 - - - no_errors UNC5B HGNC ENSG00000107731 tier4 970 0 0 870 395 31.1760063141279 536 0 0 10 72942437 72942437 T G SNP UNC5B ENST00000335350 human ensembl 70_37 +1 known 5_prime_flanking_region c.-30306 NULL 0.362 - - - no_errors UNC5B HGNC ENSG00000107731 tier4 879 0 0 1140 2 0.175131348511384 413 0 0 10 73355810 73355810 T A SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known intronic c.847+18061 e8+18061 0.006 - - - no_errors CDH23 HGNC ENSG00000107736 tier3 552 0 0 386 308 44.3804034582133 210 75 26.3157894736842 10 73721469 73721469 C A SNP CHST3 ENST00000373115 human ensembl 70_37 +1 known 5_prime_flanking_region c.-44132 NULL 0.001 - - - no_errors CHST3 HGNC ENSG00000122863 tier4 233 0 0 370 1 0.269541778975741 194 3 1.52284263959391 10 75052156 75052156 C A SNP TTC18 ENST00000310715 human ensembl 70_37 -1 known intronic c.1981-384 e17-384 0.000 - - - no_errors TTC18 HGNC ENSG00000156042 tier4 810 0 0 1237 1 0.0807754442649435 492 8 1.6 10 76214141 76214141 A G SNP ADK ENST00000286621 human ensembl 70_37 +1 known intronic c.555+55804 e6+55804 0.007 - - - no_errors ADK HGNC ENSG00000156110 tier4 1640 0 0 1253 1018 44.806338028169 490 131 21.0950080515298 10 76237703 76237703 C G SNP ADK ENST00000286621 human ensembl 70_37 +1 known intronic c.556-47311 e7-47311 0.003 - - - no_errors ADK HGNC ENSG00000156110 tier4 1178 0 0 845 709 45.5948553054662 456 82 15.1291512915129 10 76722888 76722888 T C SNP KAT6B ENST00000287239 human ensembl 70_37 +1 known intronic c.730+3052 e2+3052 0.000 - - - no_errors KAT6B HGNC ENSG00000156650 tier4 901 0 0 1407 5 0.354107648725212 397 1 0.251256281407035 10 77158028 77158028 T G SNP ZNF503 ENST00000372524 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*479 NULL 1.000 - - - no_errors ZNF503 HGNC ENSG00000165655 tier2 1224 0 0 1774 2 0.112612612612613 537 1 0.185873605947955 10 77666499 77666499 T G SNP C10orf11 ENST00000372499 human ensembl 70_37 +1 known intronic c.47+123719 e1+123719 1.000 - - - no_errors C10orf11 HGNC ENSG00000148655 tier2 1001 0 0 1303 3 0.229709035222052 412 0 0 10 77931512 77931512 C A SNP C10orf11 ENST00000372499 human ensembl 70_37 +1 known intronic c.432+112971 e4+112971 0.000 - - - no_errors C10orf11 HGNC ENSG00000148655 tier4 608 0 0 746 1 0.133868808567604 344 3 0.84985835694051 10 78513078 78513078 T C SNP - - - - - - - - - - - - - - - - - - tier4 871 0 0 1148 1 0.0870322019147084 445 2 0.44543429844098 10 78868949 78868949 T G SNP KCNMA1 ENST00000406533 human ensembl 70_37 -1 known intronic c.1132-619 e9-619 0.000 - - - no_errors KCNMA1 HGNC ENSG00000156113 tier3 1077 0 0 1372 2 0.145560407569141 440 3 0.677200902934537 10 79406257 79406257 G A SNP KCNMA1 ENST00000406533 human ensembl 70_37 -1 known 5_prime_flanking_region c.-8857 NULL 0.001 - - - no_errors KCNMA1 HGNC ENSG00000156113 tier4 609 1 0.163934426229508 404 333 45.1831750339213 330 34 9.34065934065934 10 79450969 79450969 A G SNP ENSG00000213514 ENST00000394628 human ensembl 70_37 +1 known 5_prime_flanking_region c.-39555 NULL 0.000 - - - no_coding_region:pseudogene RP11-428P16.2 Clone_based_vega_gene ENSG00000213514 tier3 940 0 0 651 492 43.006993006993 375 118 23.9350912778905 10 79557168 79557168 T C SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known intronic c.5165-816 e28-816 0.000 - - - no_errors DLG5 HGNC ENSG00000151208 tier3 796 0 0 1081 1 0.0924214417744917 363 4 1.08991825613079 10 80261843 80261843 T G SNP LOC100132987 ENST00000546103 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-90J7.3 Clone_based_vega_gene ENSG00000230417 tier3 834 0 0 1011 2 0.197433366238894 401 3 0.742574257425743 10 80817143 80817143 T G SNP LOC283050 ENST00000440151 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-202P11.1 Clone_based_vega_gene ENSG00000224596 tier3 371 0 0 519 2 0.383141762452107 188 0 0 10 82085735 82085735 T A SNP MAT1A ENST00000372206 human ensembl 70_37 -1 known 5_prime_flanking_region c.-36556 NULL 0.001 - - - no_errors MAT1A HGNC ENSG00000151224 tier4 1681 0 0 2594 2 0.0770119368502118 723 0 0 10 82226408 82226408 T G SNP TSPAN14 ENST00000372156 human ensembl 70_37 +1 known intronic c.1+114 e0+114 0.001 - - - no_errors TSPAN14 HGNC ENSG00000108219 tier3 608 0 0 846 2 0.235849056603774 396 0 0 10 82533526 82533526 C T SNP ENSG00000233703 ENST00000456245 human ensembl 70_37 -1 known 5_prime_flanking_region c.-22539 NULL 0.053 - - - no_coding_region:pseudogene RP11-20E23.1 Clone_based_vega_gene ENSG00000233703 tier4 1360 0 0 997 993 49.8994974874372 456 128 21.8430034129693 10 83823261 83823261 A G SNP NRG3 ENST00000404547 human ensembl 70_37 +1 known intronic c.823+187342 e1+187342 0.008 - - - no_errors NRG3 HGNC ENSG00000185737 tier3 501 0 0 702 2 0.284090909090909 253 1 0.393700787401575 10 84252067 84252067 G T SNP NRG3 ENST00000404547 human ensembl 70_37 +1 known intronic c.953+133443 e2+133443 0.205 - - - no_errors NRG3 HGNC ENSG00000185737 tier4 1371 0 0 894 631 41.3770491803279 436 121 21.4920071047957 10 87010414 87010414 T A SNP - - - - - - - - - - - - - - - - - - tier3 915 1 0.109170305676856 607 509 45.6093189964158 350 58 14.2156862745098 10 87213503 87213503 T G SNP ENSG00000230962 ENST00000441457 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-113E21.1 Clone_based_vega_gene ENSG00000230962 tier3 664 0 0 820 2 0.24330900243309 337 1 0.29585798816568 10 87283263 87283263 G C SNP ENSG00000223064 ENST00000411132 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-13873 NULL 0.000 - - - no_errors U6 RFAM ENSG00000223064 tier4 1107 0 0 1291 2 0.154440154440154 474 0 0 10 88523386 88523386 G A SNP BMPR1A ENST00000224764 human ensembl 70_37 +1 known intronic c.1+6710 e0+6710 0.000 - - - no_errors BMPR1A HGNC ENSG00000107779 tier3 815 0 0 656 530 44.6503791069924 377 83 17.965367965368 10 89880782 89880782 A C SNP - - - - - - - - - - - - - - - - - - tier3 682 0 0 852 2 0.234192037470726 333 1 0.29940119760479 10 90060979 90060979 A C SNP RNLS ENST00000331772 human ensembl 70_37 -1 known intronic c.876+13244 e6+13244 0.046 - - - no_errors RNLS HGNC ENSG00000184719 tier3 1184 0 0 1618 1 0.0617283950617284 426 5 1.16009280742459 10 90409906 90409906 T A SNP LIPF ENST00000394375 human ensembl 70_37 +1 known 5_prime_flanking_region c.-15392 NULL 0.515 - - - no_errors LIPF HGNC ENSG00000182333 tier4 1178 0 0 1699 3 0.176159718144451 581 0 0 10 91896346 91896346 A G SNP ENSG00000222451 ENST00000410519 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*27062 NULL 0.073 - - - no_errors 7SK RFAM ENSG00000222451 tier4 700 0 0 878 2 0.227272727272727 362 3 0.821917808219178 10 94895845 94895845 T G SNP ENSG00000232805 ENST00000433227 human ensembl 70_37 -1 known 5_prime_flanking_region c.-28705 NULL 0.001 - - - no_coding_region:pseudogene RP11-280G19.1 Clone_based_vega_gene ENSG00000232805 tier3 1249 0 0 1759 2 0.113507377979569 588 0 0 10 95596857 95596857 A G SNP LGI1 ENST00000371418 human ensembl 70_37 +1 known 3_prime_flanking_region c.*39297 NULL 0.000 - - - no_errors LGI1 HGNC ENSG00000108231 tier3 1354 0 0 1035 893 46.3174273858921 517 101 16.3430420711974 10 95800573 95800573 A T SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known intronic c.1206+8564 e1+8564 0.010 - - - no_errors PLCE1 HGNC ENSG00000138193 tier4 971 0 0 1150 3 0.2601908065915 410 0 0 10 96032883 96032883 G A SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known intronic c.4507-436 e18-436 0.000 - - - no_errors PLCE1 HGNC ENSG00000138193 tier3 719 1 0.138888888888889 608 293 32.519422863485 396 2 0.50251256281407 10 99175193 99175193 T G SNP ENSG00000231970 ENST00000422848 human ensembl 70_37 +1 known intronic c.NULL NULL 0.007 - - - no_errors RP11-452K12.7 Clone_based_vega_gene ENSG00000231970 tier3 553 0 0 853 3 0.350467289719626 337 0 0 10 100385383 100385383 C T SNP HPSE2 ENST00000370552 human ensembl 70_37 -1 known intronic c.1099-4918 e8-4918 0.005 - - - no_errors HPSE2 HGNC ENSG00000172987 tier4 1477 0 0 1054 785 42.6630434782609 573 131 18.6079545454545 10 101529989 101529989 A T SNP ABCC2 ENST00000370449 human ensembl 70_37 +1 known 5_prime_flanking_region c.-12613 NULL 0.021 - - - no_errors ABCC2 HGNC ENSG00000023839 tier4 150 0 0 179 2 1.10497237569061 37 0 0 10 101618220 101618220 T G SNP DNMBP ENST00000342239 human ensembl 70_37 -1 known 3_prime_flanking_region c.*18688 NULL 0.000 - - - no_errors DNMBP HGNC ENSG00000107554 tier3 708 0 0 1135 3 0.263620386643234 386 0 0 10 101679275 101679275 T G SNP DNMBP ENST00000342239 human ensembl 70_37 -1 known intronic c.2261-10372 e4-10372 0.008 - - - no_errors DNMBP HGNC ENSG00000107554 tier4 723 0 0 1101 4 0.361663652802893 397 0 0 10 104502564 104502564 T A SNP WBP1L ENST00000448841 human ensembl 70_37 +1 known 5_prime_flanking_region c.-1247 NULL 0.322 - - - no_errors WBP1L HGNC ENSG00000166272 tier2 675 0 0 1146 23 1.96581196581197 432 0 0 10 104562983 104562983 A G SNP WBP1L ENST00000448841 human ensembl 70_37 +1 known intronic c.193+5131 e2+5131 0.134 - - - no_errors WBP1L HGNC ENSG00000166272 tier3 302 0 0 507 2 0.392927308447937 165 0 0 10 105568782 105568782 A C SNP SH3PXD2A ENST00000369774 human ensembl 70_37 -1 known intronic c.73-7662 e2-7662 0.001 - - - no_errors SH3PXD2A HGNC ENSG00000107957 tier3 889 0 0 1415 2 0.141143260409315 427 2 0.466200466200466 10 105612458 105612458 A C SNP SH3PXD2A ENST00000369774 human ensembl 70_37 -1 known intronic c.72+2495 e1+2495 0.000 - - - no_errors SH3PXD2A HGNC ENSG00000107957 tier3 396 0 0 578 2 0.343642611683849 200 0 0 10 106342368 106342368 T C SNP ENSG00000237761 ENST00000450054 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33492 NULL 0.004 - - - no_errors RP11-127O4.2 Clone_based_vega_gene ENSG00000237761 tier3 771 0 0 1056 2 0.188679245283019 420 0 0 10 106423579 106423579 A C SNP SORCS3 ENST00000369701 human ensembl 70_37 +1 known intronic c.627+21867 e1+21867 0.000 - - - no_errors SORCS3 HGNC ENSG00000156395 tier3 607 0 0 784 3 0.381194409148666 267 1 0.373134328358209 10 107269479 107269479 G A SNP ENSG00000236043 ENST00000429680 human ensembl 70_37 -1 known 5_prime_flanking_region c.-7366 NULL 0.005 - - - no_errors RP11-78C6.1 Clone_based_vega_gene ENSG00000236043 tier4 799 0 0 574 473 45.1766953199618 331 59 15.1282051282051 10 107617120 107617120 G A SNP ENSG00000229466 ENST00000447757 human ensembl 70_37 -1 known 5_prime_flanking_region c.-38165 NULL 0.062 - - - no_errors RP11-56I23.1 Clone_based_vega_gene ENSG00000229466 tier3 1243 0 0 1480 203 12.0474777448071 527 0 0 10 109147952 109147952 A G SNP ENSG00000230151 ENST00000429110 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-432B10.1 Clone_based_vega_gene ENSG00000230151 tier4 996 0 0 1198 22 1.80327868852459 343 73 17.4641148325359 10 110500380 110500380 T G SNP ENSG00000223381 ENST00000421481 human ensembl 70_37 +1 known intronic c.NULL NULL 0.121 - - - no_errors RP11-655H13.2 Clone_based_vega_gene ENSG00000223381 tier4 355 0 0 496 2 0.400801603206413 215 0 0 10 112071097 112071097 A G SNP SMNDC1 ENST00000369592 human ensembl 70_37 -1 known 5_prime_flanking_region c.-7752 NULL 0.000 - - - no_errors SMNDC1 HGNC ENSG00000119953 tier3 1473 0 0 2227 2 0.0896860986547085 602 0 0 10 112405889 112405889 G T SNP RBM20 ENST00000369519 human ensembl 70_37 +1 known intronic c.191+1486 e1+1486 0.006 - - - no_errors RBM20 HGNC ENSG00000203867 tier3 1048 0 0 1520 5 0.327868852459016 451 4 0.879120879120879 10 113550102 113550102 T G SNP - - - - - - - - - - - - - - - - - - tier4 914 0 0 1065 1 0.0938086303939962 407 4 0.97323600973236 10 114909178 114909178 A G SNP TCF7L2 ENST00000355995 human ensembl 70_37 +1 known intronic c.876-1579 e9-1579 0.000 - - - no_errors TCF7L2 HGNC ENSG00000148737 tier3 903 0 0 1218 3 0.245499181669394 403 1 0.246305418719212 10 114932577 114932577 G T SNP TCF7L2 ENST00000355995 human ensembl 70_37 +1 known 3_prime_flanking_region c.*6846 NULL 0.003 - - - no_errors TCF7L2 HGNC ENSG00000148737 tier4 876 0 0 1164 4 0.342465753424658 458 2 0.434782608695652 10 115265947 115265947 G T SNP HABP2 ENST00000351270 human ensembl 70_37 +1 known 5_prime_flanking_region c.-46934 NULL 0.020 - - - no_errors HABP2 HGNC ENSG00000148702 tier4 692 0 0 794 2 0.251256281407035 300 3 0.99009900990099 10 115393280 115393280 T G SNP NRAP ENST00000369358 human ensembl 70_37 -1 known intronic c.1528-333 e16-333 0.001 - - - no_errors NRAP HGNC ENSG00000197893 tier3 747 0 0 959 2 0.207684319833853 293 1 0.335570469798658 10 116750583 116750583 G C SNP ENSG00000236799 ENST00000433085 human ensembl 70_37 +1 known 5_prime_flanking_region c.-3833 NULL 0.000 - - - no_errors RP11-383C6.2 Clone_based_vega_gene ENSG00000236799 tier3 1134 0 0 1591 3 0.18796992481203 409 5 1.20772946859903 10 117275327 117275327 G T SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known intronic c.3655-3446 e25-3446 0.000 - - - no_errors ATRNL1 HGNC ENSG00000107518 tier4 1118 0 0 1393 3 0.214899713467049 559 1 0.177619893428064 10 117310130 117310130 T G SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known intronic c.3795+1084 e26+1084 0.000 - - - no_errors ATRNL1 HGNC ENSG00000107518 tier3 1349 0 0 1714 1 0.05824111822947 539 2 0.369685767097967 10 117545476 117545476 G A SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known intronic c.3903+58611 e27+58611 0.000 - - - no_errors ATRNL1 HGNC ENSG00000107518 tier4 475 0 0 372 292 43.8438438438438 210 46 17.96875 10 117736105 117736105 T G SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known 3_prime_flanking_region c.*31815 NULL 0.000 - - - no_errors ATRNL1 HGNC ENSG00000107518 tier3 263 0 0 317 1 0.314465408805031 117 4 3.27868852459016 10 118042566 118042566 G A SNP GFRA1 ENST00000439649 human ensembl 70_37 -1 known 5_prime_flanking_region c.-11025 NULL 0.000 - - - no_errors GFRA1 HGNC ENSG00000151892 tier3 621 0 0 413 364 46.7866323907455 246 64 20.6451612903226 10 118080113 118080113 G T SNP GFRA1 ENST00000439649 human ensembl 70_37 -1 known 5_prime_flanking_region c.-48572 NULL 0.027 - - - no_errors GFRA1 HGNC ENSG00000151892 tier4 970 3 0.308324768756423 1232 5 0.404203718674212 468 22 4.48979591836735 10 118978052 118978052 T C SNP SLC18A2 ENST00000298472 human ensembl 70_37 +1 known 5_prime_flanking_region c.-23153 NULL 0.063 - - - no_errors SLC18A2 HGNC ENSG00000165646 tier3 427 0 0 528 1 0.189035916824197 232 2 0.854700854700855 10 119208195 119208195 T C SNP ENSG00000258114 ENST00000549104 human ensembl 70_37 +1 known intronic c.NULL NULL 0.637 - - - no_errors CTA-109P11.4 Clone_based_vega_gene ENSG00000258114 tier3 1454 0 0 1955 3 0.153217568947906 667 0 0 10 119722725 119722725 G A SNP RAB11FIP2 ENST00000369199 human ensembl 70_37 -1 known 3_prime_flanking_region c.*45784 NULL 0.000 - - - no_errors RAB11FIP2 HGNC ENSG00000107560 tier3 1820 0 0 2102 220 9.46643717728055 786 2 0.251889168765743 10 120731159 120731159 C T SNP ENSG00000215925 ENST00000401106 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-34143 NULL 0.000 - - - no_errors AL157788.1 Clone_based_ensembl_gene ENSG00000215925 tier3 576 1 0.173310225303293 435 456 51.1784511784512 258 60 18.8679245283019 10 121435292 121435292 C T SNP BAG3 ENST00000369085 human ensembl 70_37 +1 known intronic c.910-684 e4-684 0.001 - - - no_errors BAG3 HGNC ENSG00000151929 tier4 352 0 0 561 2 0.355239786856128 108 0 0 10 121920981 121920981 T G SNP ENSG00000228270 ENST00000411599 human ensembl 70_37 +1 known 5_prime_flanking_region c.-19761 NULL 0.530 - - - no_errors RP11-254K3.1 Clone_based_vega_gene ENSG00000228270 tier4 715 0 0 904 2 0.22075055187638 393 0 0 10 125630040 125630040 C T SNP CPXM2 ENST00000241305 human ensembl 70_37 -1 known intronic c.404-7801 e3-7801 0.000 - - - no_errors CPXM2 HGNC ENSG00000121898 tier2 1129 0 0 666 585 46.7625899280576 485 91 15.7986111111111 10 127350559 127350559 C T SNP TEX36 ENST00000368821 human ensembl 70_37 -1 known intronic c.52-13 e2-13 0.370 - - - no_errors TEX36 HGNC ENSG00000175018 tier3 1141 0 0 1223 171 12.258064516129 579 0 0 10 127487519 127487519 A C SNP UROS ENST00000368786 human ensembl 70_37 -1 known intronic c.395-805 e6-805 0.000 - - - no_errors UROS HGNC ENSG00000188690 tier3 891 0 0 1333 4 0.299177262528048 459 4 0.863930885529158 10 127954176 127954176 C A SNP ADAM12 ENST00000368679 human ensembl 70_37 -1 known intronic c.260+13308 e3+13308 0.001 - - - no_errors ADAM12 HGNC ENSG00000148848 tier4 853 0 0 962 1 0.103842159916926 442 5 1.11856823266219 10 128485924 128485924 T C SNP ENSG00000199321 ENST00000362451 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-17581 NULL 0.001 - - - no_errors SNORD60 RFAM ENSG00000199321 tier3 807 0 0 1096 2 0.182149362477231 440 2 0.45045045045045 10 129342725 129342725 C T SNP NPS ENST00000398023 human ensembl 70_37 +1 known 5_prime_flanking_region c.-4908 NULL 0.000 - - - no_errors NPS HGNC ENSG00000214285 tier3 799 1 0.125 597 484 44.7733580018501 339 93 21.5277777777778 10 129568425 129568425 A C SNP LOC387720 ENST00000341742 human ensembl 70_37 -1 known 5_prime_flanking_region c.-33456 NULL 0.009 - - - no_coding_region:pseudogene AL391005.1 Clone_based_ensembl_gene ENSG00000188722 tier4 366 0 0 475 2 0.419287211740042 195 0 0 10 129596164 129596164 C A SNP - - - - - - - - - - - - - - - - - - tier4 472 0 0 673 2 0.29585798816568 270 5 1.81818181818182 10 131790972 131790972 G T SNP EBF3 ENST00000355311 human ensembl 70_37 -1 known 5_prime_flanking_region c.-28940 NULL 0.064 - - - no_errors EBF3 HGNC ENSG00000108001 tier4 968 0 0 1177 4 0.338696020321761 506 6 1.171875 10 132041608 132041608 G A SNP ENSG00000237364 ENST00000449936 human ensembl 70_37 -1 known 5_prime_flanking_region c.-40216 NULL 0.000 - - - no_errors RP11-500G10.6 Clone_based_vega_gene ENSG00000237364 tier4 1039 0 0 650 522 44.5392491467577 355 94 20.8425720620843 10 133860670 133860670 A C SNP - - - - - - - - - - - - - - - - - - tier4 1079 0 0 1530 3 0.195567144719687 480 0 0 10 134178163 134178163 T C SNP LRRC27 ENST00000368613 human ensembl 70_37 +1 known intronic c.1290-765 e9-765 0.028 - - - no_errors LRRC27 HGNC ENSG00000148814 tier3 312 0 0 426 3 0.699300699300699 204 8 3.77358490566038 10 134270927 134270927 T G SNP ENSG00000234311 ENST00000450206 human ensembl 70_37 -1 known 5_prime_flanking_region c.-15939 NULL 0.003 - - - no_errors RP11-432J24.3 Clone_based_vega_gene ENSG00000234311 tier3 681 0 0 1078 1 0.092678405931418 337 3 0.882352941176471 10 134449692 134449692 T G SNP INPP5A ENST00000368594 human ensembl 70_37 +1 known intronic c.118-9680 e3-9680 0.172 - - - no_errors INPP5A HGNC ENSG00000068383 tier4 1374 0 0 1821 1 0.0548546352166758 500 5 0.99009900990099 10 134486408 134486408 T G SNP INPP5A ENST00000368594 human ensembl 70_37 +1 known intronic c.307-17488 e5-17488 0.471 - - - no_errors INPP5A HGNC ENSG00000068383 tier4 896 0 0 1313 2 0.152091254752852 518 1 0.192678227360308 10 134835917 134835917 G A SNP LOC399829 ENST00000461291 human ensembl 70_37 +1 known 3_prime_flanking_region c.*46059 NULL 0.000 - - - no_errors RP13-137A17.6 Clone_based_vega_gene ENSG00000240707 tier2 197 0 0 143 57 28.5 123 2 1.6 10 135267887 135267887 C T SNP SPRN ENST00000541506 human ensembl 70_37 -1 known intronic c.1-30686 e1-30686 0.000 - - - no_errors SPRN HGNC ENSG00000203772 tier3 525 1 0.189753320683112 689 111 13.875 296 0 0 10 135325063 135325063 A G SNP SPRN ENST00000541506 human ensembl 70_37 -1 known intronic c.1+57713 e0+57713 0.001 - - - no_errors SPRN HGNC ENSG00000203772 tier4 1774 0 0 2787 2 0.0717102904266762 775 2 0.257400257400257 11 1016893 1016893 A G SNP MUC6 ENST00000421673 human ensembl 70_37 -1 known missense c.5908 p.S1970P 0.197 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 tier1 2361 0 0 3561 2 0.0561167227833895 1520 0 0 11 1113148 1113148 A C SNP MUC5AC ENST00000534821 human ensembl 70_37 +1 known 5_prime_flanking_region c.-38479 NULL 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region MUC5AC HGNC ENSG00000215182 tier3 228 0 0 293 3 1.01351351351351 135 2 1.45985401459854 11 1812586 1812586 A T SNP CTSD ENST00000236671 human ensembl 70_37 -1 known 5_prime_flanking_region c.-27497 NULL 0.298 - - - no_errors CTSD HGNC ENSG00000117984 tier4 870 0 0 1338 2 0.147819660014782 422 0 0 11 2055152 2055152 T G SNP MIR675 ENST00000390168 human ensembl 70_37 -1 known 5_prime_flanking_region c.-37078 NULL 0.008 - - - no_errors MIR675 HGNC ENSG00000211502 tier3 430 0 0 619 3 0.482315112540193 176 1 0.564971751412429 11 2099096 2099096 G T SNP - - - - - - - - - - - - - - - - - - tier4 596 0 0 722 1 0.138312586445367 320 4 1.23456790123457 11 2232129 2232129 C T SNP TH ENST00000381178 human ensembl 70_37 -1 known 5_prime_flanking_region c.-39113 NULL 0.000 - - - no_errors TH HGNC ENSG00000180176 tier3 879 1 0.113507377979569 657 560 46.0147904683648 398 95 19.2307692307692 11 2850745 2850745 A G SNP KCNQ1 ENST00000155840 human ensembl 70_37 +1 known intronic c.1795-18252 e16-18252 0.000 - - - no_errors KCNQ1 HGNC ENSG00000053918 tier4 1371 1 0.0728862973760933 1162 798 40.6727828746177 497 102 17.0283806343907 11 3583832 3583832 A G SNP ENSG00000255367 ENST00000527970 human ensembl 70_37 -1 known intronic c.NULL NULL 0.021 - - - no_errors RP13-726E6.2 Clone_based_vega_gene ENSG00000255367 tier3 1656 0 0 2575 2 0.0775795190069822 797 0 0 11 3728603 3728603 T G SNP NUP98 ENST00000324932 human ensembl 70_37 -1 known intronic c.2743-746 e20-746 0.000 - - - no_errors NUP98 HGNC ENSG00000110713 tier3 1294 0 0 2317 2 0.086244070720138 684 0 0 11 4492213 4492213 A C SNP OR52K1 ENST00000307632 human ensembl 70_37 +1 known 5_prime_flanking_region c.-17918 NULL 0.001 - - - no_errors OR52K1 HGNC ENSG00000196778 tier4 789 0 0 1162 2 0.171673819742489 417 4 0.950118764845606 11 4816435 4816435 G C SNP OR52Y1P ENST00000452418 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-4816435 NULL 0.001 - - - no_coding_region:pseudogene OR52Y1P HGNC ENSG00000231070 tier3 800 0 0 1084 3 0.274725274725275 456 0 0 11 6520716 6520716 A C SNP DNHD1 ENST00000254579 human ensembl 70_37 +1 known intronic c.746+525 e1+525 0.000 - - - no_errors DNHD1 HGNC ENSG00000179532 tier3 387 0 0 534 2 0.373134328358209 192 1 0.515463917525773 11 6808885 6808885 C T SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known 5_prime_flanking_region c.-41215 NULL 0.002 - - - no_errors GVINP1 HGNC ENSG00000254838 tier4 633 0 0 891 3 0.33003300330033 358 2 0.543478260869565 11 8299665 8299665 A C SNP LMO1 ENST00000335790 human ensembl 70_37 -1 known 5_prime_flanking_region c.-14756 NULL 0.000 - - - no_errors LMO1 HGNC ENSG00000166407 tier3 605 0 0 890 2 0.223964165733483 302 0 0 11 8365132 8365132 G A SNP STK33 ENST00000315204 human ensembl 70_37 -1 known 3_prime_flanking_region c.*48925 NULL 0.000 - - - no_errors STK33 HGNC ENSG00000130413 tier3 331 1 0.301204819277108 236 202 46.1187214611872 95 21 17.7966101694915 11 8964174 8964174 T A SNP ASCL3 ENST00000325884 human ensembl 70_37 -1 known intronic c.1+359 e0+359 0.070 - - - no_errors ASCL3 HGNC ENSG00000176009 tier3 748 0 0 1103 2 0.180995475113122 476 0 0 11 11341263 11341263 T C SNP GALNTL4 ENST00000227756 human ensembl 70_37 -1 known intronic c.1512+7370 e9+7370 0.000 - - - no_errors GALNTL4 HGNC ENSG00000110328 tier3 692 0 0 591 260 30.5522914218566 345 0 0 11 11697789 11697789 A C SNP MIR4299 ENST00000577899 human ensembl 70_37 -1 known 5_prime_flanking_region c.-19520 NULL 0.000 - - - no_errors MIR4299 HGNC ENSG00000266645 tier3 817 0 0 1137 3 0.263157894736842 393 1 0.253807106598985 11 12021573 12021573 C A SNP DKK3 ENST00000326932 human ensembl 70_37 -1 known intronic c.352-1247 e3-1247 0.000 - - - no_errors DKK3 HGNC ENSG00000050165 tier3 935 0 0 1208 1 0.0827129859387924 399 2 0.498753117206983 11 12798185 12798185 G T SNP TEAD1 ENST00000361905 human ensembl 70_37 +1 known intronic c.157+12204 e1+12204 0.129 - - - no_errors TEAD1 HGNC ENSG00000187079 tier3 476 0 0 650 1 0.153609831029186 250 4 1.5748031496063 11 12980338 12980338 G T SNP ENSG00000203258 ENST00000454086 human ensembl 70_37 -1 known 5_prime_flanking_region c.-35866 NULL 0.932 - - - no_errors RP11-47J17.2 Clone_based_vega_gene ENSG00000203258 tier4 1127 2 0.176991150442478 1337 5 0.3725782414307 483 12 2.42424242424242 11 14442202 14442202 C G SNP ENSG00000255074 ENST00000534211 human ensembl 70_37 +1 known 5_prime_flanking_region c.-20131 NULL 0.000 - - - no_coding_region:pseudogene RP11-140L24.3 Clone_based_vega_gene ENSG00000255074 tier4 474 0 0 709 2 0.281293952180028 210 0 0 11 14695440 14695440 T C SNP ENSG00000255040 ENST00000525966 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-14695440 NULL 1.000 - - - no_coding_region:pseudogene RP11-677N16.1 Clone_based_vega_gene ENSG00000255040 tier3 754 0 0 1076 3 0.278035217794254 357 3 0.833333333333333 11 15221397 15221397 C T SNP INSC ENST00000379554 human ensembl 70_37 +1 known intronic c.835-973 e7-973 0.000 - - - no_errors INSC HGNC ENSG00000188487 tier3 543 0 0 334 364 52 216 78 26.530612244898 11 15585898 15585898 T C SNP ENSG00000254946 ENST00000527770 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-531H8.1 Clone_based_vega_gene ENSG00000254946 tier4 921 0 0 1273 2 0.156862745098039 404 0 0 11 15589125 15589125 G A SNP ENSG00000254946 ENST00000527770 human ensembl 70_37 +1 known intronic c.NULL NULL 0.431 - - - no_errors RP11-531H8.1 Clone_based_vega_gene ENSG00000254946 tier4 1644 0 0 1490 613 29.1349809885932 708 0 0 11 15726845 15726845 A C SNP ENSG00000254695 ENST00000532242 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-396O20.1 Clone_based_vega_gene ENSG00000254695 tier1 1657 0 0 2207 2 0.0904159132007233 571 0 0 11 16800238 16800238 A C SNP PLEKHA7 ENST00000531066 human ensembl 70_37 -1 putative 3_prime_untranslated_region c.*307 NULL 0.456 - - - no_errors PLEKHA7 HGNC ENSG00000166689 tier3 535 0 0 709 2 0.281293952180028 259 0 0 11 17206981 17206981 T C SNP PIK3C2A ENST00000540361 human ensembl 70_37 -1 known intronic c.1+22414 e0+22414 0.075 - - - no_errors PIK3C2A HGNC ENSG00000011405 tier4 682 0 0 996 2 0.200400801603206 341 0 0 11 17501994 17501994 T C SNP ABCC8 ENST00000302539 human ensembl 70_37 -1 known 5_prime_flanking_region c.-3671 NULL 0.014 - - - no_errors ABCC8 HGNC ENSG00000006071 tier3 653 0 0 893 2 0.223463687150838 360 0 0 11 17676463 17676463 T G SNP ENSG00000254586 ENST00000524479 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40137 NULL 0.000 - - - no_errors RP11-358H18.3 Clone_based_vega_gene ENSG00000254586 tier3 1170 0 0 1437 2 0.138985406532314 504 2 0.394477317554241 11 19052953 19052953 C A SNP ENSG00000255424 ENST00000532323 human ensembl 70_37 -1 known 5_prime_flanking_region c.-968 NULL 0.003 - - - no_coding_region:pseudogene RP11-589F4.2 Clone_based_vega_gene ENSG00000255424 tier4 831 0 0 1276 2 0.156494522691706 541 2 0.367647058823529 11 20351534 20351534 G T SNP HTATIP2 ENST00000419348 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33824 NULL 0.001 - - - no_errors HTATIP2 HGNC ENSG00000109854 tier3 748 0 0 992 3 0.301204819277108 434 0 0 11 20752718 20752718 G T SNP NELL1 ENST00000357134 human ensembl 70_37 +1 known intronic c.185-52508 e3-52508 0.982 - - - no_errors NELL1 HGNC ENSG00000165973 tier3 601 0 0 447 343 43.3080808080808 268 71 20.9439528023599 11 21290383 21290383 A G SNP NELL1 ENST00000357134 human ensembl 70_37 +1 known intronic c.1549+39383 e14+39383 0.535 - - - no_errors NELL1 HGNC ENSG00000165973 tier4 1150 0 0 1560 2 0.128040973111396 467 5 1.05932203389831 11 23626851 23626851 G A SNP - - - - - - - - - - - - - - - - - - tier3 1440 0 0 1868 30 1.58061116965227 552 129 18.887262079063 11 24759447 24759447 T A SNP LUZP2 ENST00000336930 human ensembl 70_37 +1 known intronic c.252-320 e4-320 0.985 - - - no_errors LUZP2 HGNC ENSG00000187398 tier3 1291 0 0 991 779 44.0112994350283 500 112 18.3006535947712 11 26161646 26161646 G T SNP ANO3 ENST00000537978 human ensembl 70_37 +1 known 5_prime_flanking_region c.-301821 NULL 0.000 - - - no_errors ANO3 HGNC ENSG00000134343 tier3 1028 0 0 1372 2 0.145560407569141 474 3 0.628930817610063 11 27437674 27437674 G A SNP LGR4 ENST00000379214 human ensembl 70_37 -1 known intronic c.186-3267 e2-3267 0.001 - - - no_errors LGR4 HGNC ENSG00000205213 tier3 985 0 0 1319 2 0.151171579743008 463 57 10.9615384615385 11 27662236 27662236 A G SNP BDNF-AS ENST00000499008 human ensembl 70_37 +1 known intronic c.NULL NULL 0.972 - - - no_errors BDNF-AS HGNC ENSG00000245573 tier3 1220 0 0 1628 4 0.244798041615667 563 2 0.353982300884956 11 28170932 28170932 T G SNP METTL15 ENST00000303459 human ensembl 70_37 +1 known intronic c.270+35781 e1+35781 0.000 - - - no_errors METTL15 HGNC ENSG00000169519 tier3 1915 0 0 2724 7 0.256316367630904 627 2 0.316957210776545 11 28543730 28543730 T C SNP ENSG00000255322 ENST00000532947 human ensembl 70_37 +1 known intronic c.NULL NULL 0.163 - - - no_errors RP11-22P4.1 Clone_based_vega_gene ENSG00000255322 tier3 973 0 0 674 597 46.9708890637293 330 100 23.2558139534884 11 28935968 28935968 T C SNP ENSG00000249867 ENST00000511073 human ensembl 70_37 +1 known intronic c.NULL NULL 0.004 - - - no_errors RP11-115J23.1 Clone_based_vega_gene ENSG00000249867 tier3 1047 0 0 1303 6 0.458365164247517 592 0 0 11 28935973 28935973 C T SNP ENSG00000249867 ENST00000511073 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-115J23.1 Clone_based_vega_gene ENSG00000249867 tier3 1065 0 0 1315 2 0.151860288534548 599 0 0 11 29457223 29457223 G A SNP ENSG00000254530 ENST00000525097 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-460B17.3 Clone_based_vega_gene ENSG00000254530 tier4 550 0 0 590 77 11.544227886057 253 0 0 11 30120275 30120275 C G SNP ENSG00000254532 ENST00000527819 human ensembl 70_37 -1 known 5_prime_flanking_region c.-14385 NULL 0.000 - - - no_errors RP11-624D11.2 Clone_based_vega_gene ENSG00000254532 tier3 910 0 0 597 451 42.8707224334601 426 77 15.3081510934394 11 30210447 30210447 G T SNP FSHB ENST00000254122 human ensembl 70_37 +1 known 5_prime_flanking_region c.-43003 NULL 0.000 - - - no_errors FSHB HGNC ENSG00000131808 tier4 490 0 0 653 2 0.305343511450382 271 0 0 11 30267649 30267649 A C SNP FSHB ENST00000254122 human ensembl 70_37 +1 known 3_prime_flanking_region c.*12302 NULL 0.000 - - - no_errors FSHB HGNC ENSG00000131808 tier4 670 0 0 1040 2 0.191938579654511 361 0 0 11 30277130 30277130 A C SNP FSHB ENST00000254122 human ensembl 70_37 +1 known 3_prime_flanking_region c.*21783 NULL 0.202 - - - no_errors FSHB HGNC ENSG00000131808 tier3 581 0 0 842 1 0.118483412322275 258 2 0.769230769230769 11 32304722 32304722 T G SNP ENSG00000227160 ENST00000525689 human ensembl 70_37 -1 known intronic c.NULL NULL 0.848 - - - no_errors RP1-65P5.1 Clone_based_vega_gene ENSG00000227160 tier4 931 0 0 1400 2 0.14265335235378 403 4 0.97799511002445 11 33743689 33743689 A C SNP CD59 ENST00000351554 human ensembl 70_37 -1 known intronic c.67+236 e1+236 0.000 - - - no_errors CD59 HGNC ENSG00000085063 tier3 835 0 0 1266 3 0.236220472440945 376 0 0 11 34203074 34203074 C G SNP ABTB2 ENST00000435224 human ensembl 70_37 -1 known intronic c.1245-8220 e4-8220 0.000 - - - no_errors ABTB2 HGNC ENSG00000166016 tier3 522 0 0 450 354 44.0298507462687 247 48 16.271186440678 11 34956116 34956116 G A SNP PDHX ENST00000227868 human ensembl 70_37 +1 known intronic c.241+3085 e2+3085 0.019 - - - no_errors PDHX HGNC ENSG00000110435 tier4 1080 0 0 1418 19 1.32036136205698 444 88 16.5413533834586 11 37498344 37498344 T G SNP - - - - - - - - - - - - - - - - - - tier3 1357 0 0 1951 2 0.102354145342886 715 1 0.139664804469274 11 37517465 37517465 T C SNP - - - - - - - - - - - - - - - - - - tier3 1854 0 0 1240 1049 45.827872433377 617 77 11.0632183908046 11 39679620 39679620 A G SNP - - - - - - - - - - - - - - - - - - tier4 902 0 0 1168 2 0.170940170940171 315 2 0.625 11 39856278 39856278 G C SNP ENSG00000221804 ENST00000408877 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*26778 NULL 0.194 - - - no_errors AC021749.1 Clone_based_ensembl_gene ENSG00000221804 tier4 1008 0 0 733 653 47.0800288392213 432 108 19.9261992619926 11 40022764 40022764 G T SNP - - - - - - - - - - - - - - - - - - tier4 887 0 0 1066 3 0.280636108512629 425 5 1.15740740740741 11 40034963 40034963 T G SNP - - - - - - - - - - - - - - - - - - tier3 1525 0 0 2074 3 0.144439094848339 573 0 0 11 40184520 40184520 T C SNP LRRC4C ENST00000527150 human ensembl 70_37 -1 known intronic c.1-22117 e1-22117 0.999 - - - no_errors LRRC4C HGNC ENSG00000148948 tier3 1144 0 0 813 619 43.1960921144452 492 117 19.2118226600985 11 40227330 40227330 C A SNP LRRC4C ENST00000527150 human ensembl 70_37 -1 known intronic c.1-64927 e1-64927 0.001 - - - no_errors LRRC4C HGNC ENSG00000148948 tier3 1334 1 0.0749063670411985 1820 1 0.0549148819330038 617 52 7.7727952167414 11 40256728 40256728 A G SNP LRRC4C ENST00000527150 human ensembl 70_37 -1 known intronic c.1+57015 e0+57015 0.000 - - - no_errors LRRC4C HGNC ENSG00000148948 tier3 1175 0 0 1669 2 0.119688809096349 515 1 0.193798449612403 11 40931439 40931439 C A SNP LRRC4C ENST00000528697 human ensembl 70_37 -1 known intronic c.1+23746 e0+23746 0.005 - - - no_errors LRRC4C HGNC ENSG00000148948 tier3 698 0 0 882 2 0.226244343891403 371 2 0.536193029490617 11 40985584 40985584 T C SNP LRRC4C ENST00000528697 human ensembl 70_37 -1 known intronic c.1-30311 e1-30311 0.001 - - - no_errors LRRC4C HGNC ENSG00000148948 tier3 721 0 0 965 3 0.309597523219814 340 4 1.16279069767442 11 41536851 41536851 T G SNP ENSG00000242729 ENST00000489849 human ensembl 70_37 +1 known 5_prime_flanking_region c.-23133 NULL 0.000 - - - no_coding_region:pseudogene RP11-124G5.1 Clone_based_vega_gene ENSG00000242729 tier3 569 0 0 367 302 45.1420029895366 288 32 10 11 41552807 41552807 A C SNP ENSG00000255388 ENST00000526978 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-124G5.3 Clone_based_vega_gene ENSG00000255388 tier4 947 0 0 1271 2 0.157109190887667 420 3 0.709219858156028 11 41576958 41576958 G A SNP ENSG00000255388 ENST00000526978 human ensembl 70_37 -1 known intronic c.NULL NULL 0.002 - - - no_errors RP11-124G5.3 Clone_based_vega_gene ENSG00000255388 tier4 1421 0 0 991 635 39.004914004914 479 108 18.3986371379898 11 43058388 43058388 C T SNP ENSG00000254725 ENST00000532030 human ensembl 70_37 -1 known 3_prime_flanking_region c.*28848 NULL 0.000 - - - no_coding_region:pseudogene RP11-111A24.1 Clone_based_vega_gene ENSG00000254725 tier4 1258 0 0 1710 3 0.175131348511384 640 0 0 11 43265981 43265981 C T SNP HNRNPKP3 ENST00000533565 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.000 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 tier3 884 0 0 1210 6 0.493421052631579 510 1 0.195694716242661 11 44507608 44507608 T G SNP ENSG00000255451 ENST00000528183 human ensembl 70_37 +1 known 3_prime_flanking_region c.*15629 NULL 0.000 - - - no_errors RP11-58K22.1 Clone_based_vega_gene ENSG00000255451 tier3 779 0 0 1174 2 0.170068027210884 430 1 0.232018561484919 11 44942886 44942886 G T SNP TSPAN18 ENST00000340160 human ensembl 70_37 +1 known intronic c.615+1336 e5+1336 0.028 - - - no_errors TSPAN18 HGNC ENSG00000157570 tier4 216 0 0 167 142 45.9546925566343 93 23 19.8275862068966 11 45413393 45413393 T G SNP ENSG00000255041 ENST00000528445 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-430H10.4 Clone_based_vega_gene ENSG00000255041 tier3 558 0 0 697 59 7.8042328042328 265 0 0 11 48077530 48077530 G A SNP PTPRJ ENST00000418331 human ensembl 70_37 +1 known intronic c.97-54080 e2-54080 0.001 - - - no_errors PTPRJ HGNC ENSG00000149177 tier3 1049 1 0.0951474785918173 914 787 46.2397179788484 412 117 21.9512195121951 11 48737934 48737934 C A SNP - - - - - - - - - - - - - - - - - - tier4 782 0 0 1010 1 0.0989119683481701 404 4 0.980392156862745 11 48846936 48846936 A C SNP - - - - - - - - - - - - - - - - - - tier4 761 0 0 992 3 0.301507537688442 368 0 0 11 48847540 48847540 A G SNP - - - - - - - - - - - - - - - - - - tier4 129 0 0 196 2 1.01010101010101 54 2 3.57142857142857 11 48946514 48946514 C A SNP TRIM51CP ENST00000505076 human ensembl 70_37 +1 known 5_prime_flanking_region c.-20732 NULL 0.000 - - - no_coding_region:pseudogene TRIM51CP HGNC ENSG00000249910 tier4 569 0 0 660 3 0.452488687782805 307 2 0.647249190938511 11 48955051 48955051 C T SNP TRIM51CP ENST00000505076 human ensembl 70_37 +1 known 5_prime_flanking_region c.-12195 NULL 0.001 - - - no_coding_region:pseudogene TRIM51CP HGNC ENSG00000249910 tier4 940 0 0 1163 1 0.0858369098712446 539 6 1.10091743119266 11 48955586 48955586 G T SNP TRIM51CP ENST00000505076 human ensembl 70_37 +1 known 5_prime_flanking_region c.-11660 NULL 0.040 - - - no_coding_region:pseudogene TRIM51CP HGNC ENSG00000249910 tier4 299 1 0.33112582781457 356 2 0.554016620498615 173 10 5.46448087431694 11 50182816 50182816 C A SNP ENSG00000255500 ENST00000525487 human ensembl 70_37 +1 known 5_prime_flanking_region c.-44516 NULL 0.291 - - - no_coding_region:pseudogene RP11-347H15.2 Clone_based_vega_gene ENSG00000255500 tier4 1416 0 0 1796 2 0.111234705228031 665 0 0 11 50281968 50281968 C T SNP ENSG00000254840 ENST00000528459 human ensembl 70_37 +1 known intronic c.NULL NULL 0.046 - - - no_errors RP11-574M7.1 Clone_based_vega_gene ENSG00000254840 tier4 769 0 0 852 107 11.1574556830031 481 0 0 11 50724743 50724743 A G SNP - - - - - - - - - - - - - - - - - - tier4 358 0 0 449 2 0.443458980044346 207 0 0 11 50736987 50736987 T A SNP - - - - - - - - - - - - - - - - - - tier4 807 0 0 1106 3 0.270513976555455 488 0 0 11 50736994 50736994 T A SNP - - - - - - - - - - - - - - - - - - tier4 777 0 0 1079 4 0.369344413665743 502 0 0 11 50747825 50747825 A G SNP - - - - - - - - - - - - - - - - - - tier4 197 0 0 301 2 0.649350649350649 162 4 2.3121387283237 11 50758065 50758065 G T SNP - - - - - - - - - - - - - - - - - - tier4 504 0 0 607 5 0.816993464052288 209 0 0 11 51235270 51235270 C A SNP ENSG00000264637 ENST00000584740 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*28739 NULL 0.000 - - - no_errors AC110283.1 Clone_based_ensembl_gene ENSG00000264637 tier4 694 0 0 414 440 51.4619883040936 279 64 18.6588921282799 11 51359594 51359594 A G SNP OR4A6P ENST00000534364 human ensembl 70_37 -1 known 3_prime_flanking_region c.*33870 NULL 0.000 - - - no_coding_region:pseudogene OR4A6P HGNC ENSG00000255078 tier4 617 0 0 886 2 0.224971878515186 464 3 0.642398286937901 11 51512282 51512282 C T SNP OR4C46 ENST00000328188 human ensembl 70_37 +1 known 5_prime_flanking_region c.-3000 NULL 0.008 - - - no_errors OR4C46 HGNC ENSG00000185926 tier3 613 0 0 904 3 0.330396475770925 291 0 0 11 51570118 51570118 G A SNP OR4C50P ENST00000330155 human ensembl 70_37 -1 known 5_prime_flanking_region c.-42318 NULL 0.000 - - - no_coding_region:pseudogene OR4C50P HGNC ENSG00000237610 tier4 1209 7 0.57518488085456 2028 16 0.782013685239492 764 27 3.40479192938209 11 51570121 51570121 T C SNP OR4C50P ENST00000330155 human ensembl 70_37 -1 known 5_prime_flanking_region c.-42321 NULL 0.000 - - - no_coding_region:pseudogene OR4C50P HGNC ENSG00000237610 tier4 1225 7 0.568181818181818 2043 17 0.825242718446602 787 30 3.67197062423501 11 51571019 51571019 T G SNP OR4C50P ENST00000330155 human ensembl 70_37 -1 known 5_prime_flanking_region c.-43219 NULL 0.000 - - - no_coding_region:pseudogene OR4C50P HGNC ENSG00000237610 tier4 527 0 0 748 2 0.266666666666667 335 0 0 11 51575620 51575620 A G SNP OR4C50P ENST00000330155 human ensembl 70_37 -1 known 5_prime_flanking_region c.-47820 NULL 0.000 - - - no_coding_region:pseudogene OR4C50P HGNC ENSG00000237610 tier4 764 0 0 1065 2 0.187441424554827 545 4 0.728597449908925 11 51577053 51577053 C T SNP OR4C50P ENST00000330155 human ensembl 70_37 -1 known 5_prime_flanking_region c.-49253 NULL 0.000 - - - no_coding_region:pseudogene OR4C50P HGNC ENSG00000237610 tier4 295 0 0 383 3 0.77720207253886 174 2 1.13636363636364 11 51577100 51577100 T C SNP OR4C50P ENST00000330155 human ensembl 70_37 -1 known 5_prime_flanking_region c.-49300 NULL 0.000 - - - no_coding_region:pseudogene OR4C50P HGNC ENSG00000237610 tier4 421 0 0 574 2 0.347222222222222 307 0 0 11 51579956 51579956 G A SNP - - - - - - - - - - - - - - - - - - tier4 172 0 0 257 10 3.74531835205993 72 2 2.63157894736842 11 54915569 54915569 T C SNP - - - - - - - - - - - - - - - - - - tier4 424 0 0 563 2 0.353982300884956 114 0 0 11 55025815 55025815 G C SNP TRIM48 ENST00000417545 human ensembl 70_37 +1 known 5_prime_flanking_region c.-3929 NULL 0.000 - - - no_errors TRIM48 HGNC ENSG00000150244 tier4 396 0 0 532 2 0.373831775700935 228 2 0.862068965517241 11 55095636 55095636 G T SNP OR4A15 ENST00000314706 human ensembl 70_37 +1 known 5_prime_flanking_region c.-39724 NULL 0.018 - - - no_errors OR4A15 HGNC ENSG00000181958 tier4 836 2 0.238663484486874 543 415 43.3194154488518 407 123 23.1203007518797 11 55107791 55107791 G T SNP OR4A15 ENST00000314706 human ensembl 70_37 +1 known 5_prime_flanking_region c.-27569 NULL 0.014 - - - no_errors OR4A15 HGNC ENSG00000181958 tier3 998 0 0 1278 8 0.622083981337481 492 7 1.40280561122244 11 55199776 55199776 A G SNP OR4A10P ENST00000526498 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*55199776 NULL 0.901 - - - no_coding_region:pseudogene OR4A10P HGNC ENSG00000254886 tier3 1596 0 0 1088 1004 47.9465138490926 609 110 15.2143845089903 11 55585413 55585413 C G SNP OR5D16 ENST00000378396 human ensembl 70_37 +1 known 5_prime_flanking_region c.-20815 NULL 0.000 - - - no_errors OR5D16 HGNC ENSG00000205029 tier4 1231 0 0 1684 2 0.1185536455246 320 0 0 11 56227347 56227347 G A SNP OR5R1 ENST00000312253 human ensembl 70_37 -1 known 5_prime_flanking_region c.-41639 NULL 0.070 - - - no_errors OR5R1 HGNC ENSG00000174942 tier4 678 0 0 469 400 45.9770114942529 307 78 20.2597402597403 11 56570146 56570146 T C SNP OR5G5P ENST00000378368 human ensembl 70_37 -1 known rna NULL NULL 0.894 - - - no_errors OR5G5P HGNC ENSG00000205025 tier1 1383 1 0.0722021660649819 1991 36 1.77514792899408 565 0 0 11 57486115 57486115 A C SNP TMX2 ENST00000278422 human ensembl 70_37 +1 known intronic c.189+5836 e1+5836 0.001 - - - no_errors TMX2 HGNC ENSG00000213593 tier3 509 0 0 831 3 0.359712230215827 395 2 0.50125313283208 11 57532320 57532320 A G SNP CTNND1 ENST00000399050 human ensembl 70_37 +1 known intronic c.1+2729 e0+2729 0.051 - - - no_errors CTNND1 HGNC ENSG00000198561 tier3 762 0 0 1123 2 0.177777777777778 347 2 0.56980056980057 11 57876789 57876789 C A SNP OR9Q1 ENST00000335397 human ensembl 70_37 +1 known intronic c.1+53370 e0+53370 0.340 - - - no_errors OR9Q1 HGNC ENSG00000186509 tier3 716 0 0 557 475 46.0271317829457 366 70 16.0550458715596 11 58605919 58605919 A G SNP GLYATL2 ENST00000287275 human ensembl 70_37 -1 known intronic c.79-78 e2-78 0.007 - - - no_errors GLYATL2 HGNC ENSG00000156689 tier3 1190 0 0 823 583 41.3768630234209 419 119 22.1189591078067 11 59355590 59355590 G A SNP OSBP ENST00000263847 human ensembl 70_37 -1 known intronic c.1678+5487 e9+5487 0.223 - - - no_errors OSBP HGNC ENSG00000110048 tier4 457 0 0 675 2 0.295420974889217 277 0 0 11 59576102 59576102 T C SNP MRPL16 ENST00000300151 human ensembl 70_37 -1 known intronic c.122-780 e3-780 0.000 - - - no_errors MRPL16 HGNC ENSG00000166902 tier3 1309 0 0 1893 2 0.105485232067511 577 0 0 11 61205562 61205562 G T SNP SDHAF2 ENST00000301761 human ensembl 70_37 +1 known missense c.347 p.W116L 1.000 pfam_DUF339,superfamily_DUF339 pfam_DUF339,superfamily_DUF339 - no_errors SDHAF2 HGNC ENSG00000167985 tier1 1184 0 0 1836 2 0.108754758020663 595 0 0 11 62710568 62710568 G A SNP SLC22A6 ENST00000540654 human ensembl 70_37 -1 known intronic c.786-6610 e6-6610 0.004 - - - no_errors SLC22A6 HGNC ENSG00000197901 tier4 1620 0 0 2576 76 2.86036883703425 676 2 0.294117647058824 11 63844536 63844536 T G SNP MACROD1 ENST00000255681 human ensembl 70_37 -1 known intronic c.518-61783 e4-61783 0.571 - - - no_errors MACROD1 HGNC ENSG00000133315 tier3 205 0 0 303 3 0.980392156862745 102 0 0 11 64727402 64727402 T C SNP C11orf85 ENST00000301896 human ensembl 70_37 -1 known intronic c.1+159 e0+159 0.000 - - - no_errors C11orf85 HGNC ENSG00000168070 tier3 755 0 0 1365 3 0.219138056975895 361 3 0.821917808219178 11 64800742 64800742 T G SNP SNX15 ENST00000377244 human ensembl 70_37 +1 known intronic c.256+719 e3+719 0.004 - - - no_errors SNX15 HGNC ENSG00000110025 tier4 979 0 0 1813 2 0.110071546505228 419 0 0 11 64988108 64988108 G T SNP SLC22A20 ENST00000525264 human ensembl 70_37 +1 known intronic c.NULL NULL 0.003 - - - no_errors SLC22A20 HGNC ENSG00000197847 tier4 973 0 0 1743 2 0.114613180515759 604 0 0 11 65064500 65064500 G A SNP POLA2 ENST00000265465 human ensembl 70_37 +1 known intronic c.1648-91 e18-91 0.000 - - - no_errors POLA2 HGNC ENSG00000014138 tier3 1350 0 0 1196 1001 45.5414012738854 639 122 15.9895150720839 11 65068490 65068490 T G SNP POLA2 ENST00000525924 human ensembl 70_37 +1 putative intronic c.657-4354 e9-4354 0.043 - - - pseudogene:no_stop_codon:bad_bp_length_for_coding_region POLA2 HGNC ENSG00000014138 tier4 651 0 0 1014 4 0.392541707556428 350 1 0.28328611898017 11 65508394 65508394 T A SNP OVOL1 ENST00000335987 human ensembl 70_37 +1 known 5_prime_flanking_region c.-46451 NULL 0.120 - - - no_errors OVOL1 HGNC ENSG00000172818 tier4 507 0 0 484 504 51.0121457489879 247 51 17.1140939597315 11 66623496 66623496 A C SNP PC ENST00000393958 human ensembl 70_37 -1 known intronic c.1369-2642 e10-2642 0.006 - - - no_errors PC HGNC ENSG00000173599 tier3 1009 0 0 1647 5 0.301023479831427 500 0 0 11 68553093 68553093 A C SNP CPT1A ENST00000265641 human ensembl 70_37 -1 known intronic c.968-615 e9-615 0.006 - - - no_errors CPT1A HGNC ENSG00000110090 tier4 1767 0 0 2859 6 0.209424083769634 729 1 0.136986301369863 11 68760699 68760699 A C SNP MRGPRD ENST00000309106 human ensembl 70_37 -1 known 5_prime_flanking_region c.-12244 NULL 0.159 - - - no_errors MRGPRD HGNC ENSG00000172938 tier4 516 0 0 803 3 0.372208436724566 278 2 0.714285714285714 11 69645022 69645022 A T SNP FGF3 ENST00000334134 human ensembl 70_37 -1 known 5_prime_flanking_region c.-11321 NULL 0.000 - - - no_errors FGF3 HGNC ENSG00000186895 tier3 521 0 0 327 314 48.9859594383775 217 54 19.9261992619926 11 71668226 71668226 A G SNP RNF121 ENST00000361756 human ensembl 70_37 +1 known intronic c.64-47 e2-47 0.002 - - - no_errors RNF121 HGNC ENSG00000137522 tier3 1060 0 0 1462 4 0.272851296043656 408 3 0.72992700729927 11 72329370 72329370 G C SNP PDE2A ENST00000334456 human ensembl 70_37 -1 known intronic c.145-9575 e3-9575 0.000 - - - no_errors PDE2A HGNC ENSG00000186642 tier3 282 0 0 196 176 47.3118279569892 140 28 16.6666666666667 11 72692248 72692248 A C SNP FCHSD2 ENST00000409418 human ensembl 70_37 -1 known intronic c.705+2885 e8+2885 0.007 - - - no_errors FCHSD2 HGNC ENSG00000137478 tier3 713 0 0 1056 2 0.189035916824197 311 0 0 11 74396029 74396029 C T SNP ENSG00000223202 ENST00000411270 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-240 NULL 0.000 - - - no_errors 7SK RFAM ENSG00000223202 tier3 1032 0 0 702 558 44.2857142857143 396 102 20.3187250996016 11 74987562 74987562 T C SNP ARRB1 ENST00000393505 human ensembl 70_37 -1 known intronic c.776+321 e10+321 0.000 - - - no_errors ARRB1 HGNC ENSG00000137486 tier3 1049 0 0 1349 171 11.2426035502959 566 0 0 11 75323593 75323593 T G SNP MAP6 ENST00000304771 human ensembl 70_37 -1 known intronic c.906-4226 e2-4226 0.006 - - - no_errors MAP6 HGNC ENSG00000171533 tier3 604 0 0 850 1 0.117508813160987 310 2 0.641025641025641 11 78243418 78243418 T A SNP NARS2 ENST00000281038 human ensembl 70_37 -1 known intronic c.595-3436 e6-3436 0.030 - - - no_errors NARS2 HGNC ENSG00000137513 tier4 1814 0 0 2874 2 0.0695410292072323 819 0 0 11 79162135 79162135 A T SNP TENM4 ENST00000278550 human ensembl 70_37 -1 known 5_prime_flanking_region c.-381146 NULL 0.000 - - - no_errors TENM4 HGNC ENSG00000149256 tier4 2886 5 0.172950536146662 3897 3 0.0769033581133043 511 12 2.29445506692161 11 79216955 79216955 G A SNP - - - - - - - - - - - - - - - - - - tier4 1076 0 0 692 604 46.5690053970702 413 93 18.3070866141732 11 79378113 79378113 C T SNP ENSG00000221551 ENST00000408624 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-25310 NULL 0.000 - - - no_errors AP000478.1 Clone_based_ensembl_gene ENSG00000221551 tier3 977 0 0 663 531 44.4723618090452 400 96 19.3548387096774 11 79829527 79829527 C A SNP - - - - - - - - - - - - - - - - - - tier3 1321 0 0 1818 3 0.164744645799012 653 0 0 11 81852119 81852119 G A SNP ENSG00000245832 ENST00000500502 human ensembl 70_37 -1 known intronic c.NULL NULL 0.009 - - - no_errors RP11-179A16.1 Clone_based_vega_gene ENSG00000245832 tier2 1096 0 0 1485 2 0.134408602150538 509 46 8.22898032200358 11 83336033 83336033 T G SNP DLG2 ENST00000376104 human ensembl 70_37 -1 known intronic c.1940+8221 e17+8221 0.007 - - - no_errors DLG2 HGNC ENSG00000150672 tier3 1016 0 0 1288 2 0.154918667699458 545 4 0.728597449908925 11 84125411 84125411 T G SNP DLG2 ENST00000376104 human ensembl 70_37 -1 known intronic c.519+120202 e5+120202 0.000 - - - no_errors DLG2 HGNC ENSG00000150672 tier3 830 0 0 1127 3 0.265486725663717 338 3 0.879765395894428 11 84720182 84720182 C A SNP DLG2 ENST00000376104 human ensembl 70_37 -1 known intronic c.357+102523 e4+102523 0.000 - - - no_errors DLG2 HGNC ENSG00000150672 tier4 1778 0 0 2627 4 0.151917964299278 610 4 0.645161290322581 11 84840438 84840438 G T SNP DLG2 ENST00000376104 human ensembl 70_37 -1 known intronic c.283-17659 e4-17659 0.000 - - - no_errors DLG2 HGNC ENSG00000150672 tier2 1544 1 0.0647249190938511 2058 2 0.0970873786407767 656 8 1.20481927710843 11 85027366 85027366 T C SNP DLG2 ENST00000376104 human ensembl 70_37 -1 known intronic c.41-30957 e2-30957 0.001 - - - no_errors DLG2 HGNC ENSG00000150672 tier3 1297 0 0 915 780 45.9905660377358 469 126 21.1764705882353 11 86128195 86128195 A G SNP CCDC81 ENST00000445632 human ensembl 70_37 +1 known intronic c.1691+1840 e13+1840 0.013 - - - no_errors CCDC81 HGNC ENSG00000149201 tier4 918 1 0.108813928182807 724 644 46.9730123997082 127 10 7.2992700729927 11 87077999 87077999 C G SNP PSMA2P1 ENST00000526365 human ensembl 70_37 -1 known 5_prime_flanking_region c.-36905 NULL 0.000 - - - no_coding_region:pseudogene PSMA2P1 HGNC ENSG00000254582 tier3 857 0 0 543 501 47.9425837320574 399 66 14.1935483870968 11 87433291 87433291 G T SNP ENSG00000255183 ENST00000532606 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-2988 NULL 0.000 - - - no_errors RP11-720D4.3 Clone_based_vega_gene ENSG00000255183 tier3 1685 1 0.0593119810201661 1872 166 8.14524043179588 673 0 0 11 87833387 87833387 A C SNP ENSG00000255241 ENST00000528458 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors RP11-164N3.3 Clone_based_vega_gene ENSG00000255241 tier3 1411 0 0 1918 4 0.208008320332813 592 0 0 11 88567445 88567445 A C SNP GRM5 ENST00000305447 human ensembl 70_37 -1 known intronic c.911+15629 e2+15629 0.003 - - - no_errors GRM5 HGNC ENSG00000168959 tier3 746 0 0 998 2 0.2 433 0 0 11 88757729 88757729 A G SNP GRM5 ENST00000305447 human ensembl 70_37 -1 known intronic c.661+22651 e1+22651 0.009 - - - no_errors GRM5 HGNC ENSG00000168959 tier3 1646 0 0 2134 2 0.0936329588014981 624 0 0 11 89208090 89208090 T A SNP NOX4 ENST00000413594 human ensembl 70_37 -1 known intronic c.216+15536 e2+15536 0.004 - - - no_errors NOX4 HGNC ENSG00000086991 tier3 1645 0 0 1243 1000 44.5831475702185 620 144 18.798955613577 11 89308747 89308747 T C SNP NOX4 ENST00000542487 human ensembl 70_37 -1 known intronic c.1+13861 e0+13861 0.001 - - - no_errors NOX4 HGNC ENSG00000086991 tier3 882 0 0 1123 1 0.0889679715302491 397 2 0.498753117206983 11 89365074 89365074 C T SNP NOX4 ENST00000542487 human ensembl 70_37 -1 known 5_prime_flanking_region c.-141368 NULL 0.000 - - - no_errors NOX4 HGNC ENSG00000086991 tier3 736 2 0.2710027100271 473 378 44.4183313748531 360 89 19.8218262806236 11 89610064 89610064 C A SNP TRIM64B ENST00000329862 human ensembl 70_37 -1 known 5_prime_flanking_region c.-879 NULL 0.002 - - - no_errors TRIM64B HGNC ENSG00000189253 tier3 824 0 0 1085 3 0.275229357798165 527 4 0.75046904315197 11 89749406 89749406 A C SNP TRIM49C ENST00000448984 human ensembl 70_37 +1 known 5_prime_flanking_region c.-18974 NULL 0.008 - - - no_errors TRIM49C HGNC ENSG00000204449 tier3 902 0 0 1251 2 0.159616919393456 502 0 0 11 91555951 91555951 G A SNP ENSG00000255332 ENST00000525832 human ensembl 70_37 +1 known 3_prime_flanking_region c.*10491 NULL 0.000 - - - no_errors RP11-201M22.1 Clone_based_vega_gene ENSG00000255332 tier3 1364 0 0 944 788 45.4702827466821 536 104 16.25 11 92692205 92692205 T G SNP MTNR1B ENST00000257068 human ensembl 70_37 +1 known 5_prime_flanking_region c.-10687 NULL 0.000 - - - no_errors MTNR1B HGNC ENSG00000134640 tier4 866 0 0 1060 2 0.188323917137476 436 1 0.22883295194508 11 93297350 93297350 T C SNP C11orf75 ENST00000298966 human ensembl 70_37 -1 known 5_prime_flanking_region c.-84995 NULL 0.007 - - - no_errors C11orf75 HGNC ENSG00000166002 tier3 583 0 0 802 1 0.12453300124533 305 2 0.651465798045603 11 93531305 93531305 T G SNP MED17 ENST00000251871 human ensembl 70_37 +1 known intronic c.1328+420 e8+420 0.000 - - - no_errors MED17 HGNC ENSG00000042429 tier4 1044 0 0 1487 5 0.334896182183523 443 1 0.224719101123596 11 94266914 94266914 T C SNP PIWIL4 ENST00000299001 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33771 NULL 0.001 - - - no_errors PIWIL4 HGNC ENSG00000134627 tier3 988 0 0 1466 3 0.204220558202859 416 4 0.952380952380952 11 94493698 94493698 G T SNP AMOTL1 ENST00000299004 human ensembl 70_37 +1 putative intronic c.136+19544 e2+19544 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region AMOTL1 HGNC ENSG00000166025 tier4 746 0 0 902 4 0.441501103752759 286 3 1.03806228373702 11 94979329 94979329 C G SNP SESN3 ENST00000536441 human ensembl 70_37 -1 known 5_prime_flanking_region c.-15305 NULL 0.000 - - - no_errors SESN3 HGNC ENSG00000149212 tier3 992 0 0 1526 4 0.261096605744125 462 2 0.43010752688172 11 96629959 96629959 T C SNP ENSG00000254587 ENST00000527528 human ensembl 70_37 +1 known 3_prime_flanking_region c.*45137 NULL 0.637 - - - no_errors RP11-360K13.1 Clone_based_vega_gene ENSG00000254587 tier4 820 0 0 1143 7 0.607638888888889 394 3 0.75187969924812 11 97274683 97274683 C T SNP - - - - - - - - - - - - - - - - - - tier4 1661 1 0.0601322910402886 1166 1124 49.0615451767787 454 153 25.2059308072488 11 97828972 97828972 C A SNP ENSG00000255502 ENST00000526385 human ensembl 70_37 -1 known 5_prime_flanking_region c.-15210 NULL 0.010 - - - no_errors RP11-379J13.2 Clone_based_vega_gene ENSG00000255502 tier4 1908 0 0 2564 65 2.46960486322188 843 3 0.354609929078014 11 98240272 98240272 C T SNP - - - - - - - - - - - - - - - - - - tier3 2499 1 0.04 2343 1002 29.9551569506726 962 2 0.206185567010309 11 98418872 98418872 A G SNP ENSG00000254939 ENST00000527289 human ensembl 70_37 -1 known 3_prime_flanking_region c.*16932 NULL 0.164 - - - no_coding_region:pseudogene CTD-2342I9.1 Clone_based_vega_gene ENSG00000254939 tier4 1053 0 0 1385 1 0.0721500721500722 410 11 2.61282660332542 11 98720444 98720444 G T SNP - - - - - - - - - - - - - - - - - - tier4 713 0 0 772 118 13.2584269662921 391 4 1.0126582278481 11 99089094 99089094 C A SNP CNTN5 ENST00000524871 human ensembl 70_37 +1 known intronic c.1-106983 e1-106983 0.000 - - - no_errors CNTN5 HGNC ENSG00000149972 tier4 945 0 0 1174 54 4.39739413680782 551 0 0 11 99483726 99483726 T G SNP CNTN5 ENST00000279463 human ensembl 70_37 +1 known intronic c.55+56726 e1+56726 0.002 - - - no_errors CNTN5 HGNC ENSG00000149972 tier2 1259 0 0 1679 1 0.0595238095238095 523 4 0.754716981132075 11 99548180 99548180 A C SNP CNTN5 ENST00000279463 human ensembl 70_37 +1 known intronic c.55+121180 e1+121180 0.000 - - - no_errors CNTN5 HGNC ENSG00000149972 tier3 848 0 0 1166 6 0.511945392491468 379 5 1.30208333333333 11 100099398 100099398 C A SNP CNTN5 ENST00000279463 human ensembl 70_37 +1 known intronic c.2005+3854 e14+3854 0.014 - - - no_errors CNTN5 HGNC ENSG00000149972 tier4 723 0 0 632 312 33.0508474576271 499 5 0.992063492063492 11 102865616 102865616 A C SNP MMP13 ENST00000340273 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-39182 NULL 0.003 - - - no_errors MMP13 HGNC ENSG00000137745 tier4 1634 0 0 2210 2 0.0904159132007233 782 2 0.254452926208651 11 103926074 103926074 C G SNP PDGFD ENST00000393158 human ensembl 70_37 -1 known intronic c.125-55091 e2-55091 0.068 - - - no_errors PDGFD HGNC ENSG00000170962 tier4 1066 0 0 1527 4 0.261267145656434 522 1 0.191204588910134 11 104345473 104345473 A T SNP ENSG00000256422 ENST00000536529 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.002 - - - no_errors RP11-886D15.1 Clone_based_vega_gene ENSG00000256422 tier3 1081 0 0 1589 3 0.188442211055276 593 2 0.336134453781513 11 105395316 105395316 A G SNP ENSG00000254998 ENST00000528811 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.004 - - - no_errors RP11-94P11.4 Clone_based_vega_gene ENSG00000254998 tier4 682 0 0 974 2 0.204918032786885 290 2 0.684931506849315 11 105432149 105432149 T G SNP GRIA4 ENST00000282499 human ensembl 70_37 +1 known 5_prime_flanking_region c.-49576 NULL 0.020 - - - no_errors GRIA4 HGNC ENSG00000152578 tier4 826 0 0 565 486 46.2416745956232 389 74 15.9827213822894 11 106192531 106192531 G A SNP ENSG00000255065 ENST00000529025 human ensembl 70_37 +1 known 3_prime_flanking_region c.*10013 NULL 0.000 - - - no_coding_region:pseudogene RP11-680E19.2 Clone_based_vega_gene ENSG00000255065 tier4 791 0 0 970 2 0.205761316872428 328 50 13.1578947368421 11 106243012 106243012 C T SNP - - - - - - - - - - - - - - - - - - tier4 1402 1 0.0711743772241993 1104 970 46.7695274831244 306 79 20.5194805194805 11 106755059 106755059 T C SNP GUCY1A2 ENST00000282249 human ensembl 70_37 -1 known intronic c.1206+55127 e4+55127 0.025 - - - no_errors GUCY1A2 HGNC ENSG00000152402 tier3 1391 0 0 959 836 46.5219810795771 562 152 21.2885154061625 11 108354319 108354319 T C SNP KDELC2 ENST00000323468 human ensembl 70_37 -1 known intronic c.685-1370 e4-1370 0.035 - - - no_errors KDELC2 HGNC ENSG00000178202 tier3 560 0 0 823 2 0.242424242424242 345 1 0.289017341040462 11 108392149 108392149 C A SNP EXPH5 ENST00000265843 human ensembl 70_37 -1 known intronic c.493-3049 e5-3049 0.000 - - - no_errors EXPH5 HGNC ENSG00000110723 tier3 758 0 0 1136 3 0.263388937664618 424 8 1.85185185185185 11 108712347 108712347 C T SNP DDX10 ENST00000322536 human ensembl 70_37 +1 known intronic c.2247+144 e15+144 0.000 - - - no_errors DDX10 HGNC ENSG00000178105 tier3 995 0 0 1368 3 0.218818380743982 613 0 0 11 108845341 108845341 A C SNP ENSG00000201243 ENST00000364373 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-30903 NULL 0.000 - - - no_errors U6 RFAM ENSG00000201243 tier3 730 0 0 519 463 47.1486761710794 290 61 17.3789173789174 11 109721781 109721781 A C SNP ENSG00000254659 ENST00000534252 human ensembl 70_37 -1 known 5_prime_flanking_region c.-27208 NULL 0.000 - - - no_errors RP11-262A12.1 Clone_based_vega_gene ENSG00000254659 tier4 628 0 0 848 1 0.117647058823529 265 2 0.746268656716418 11 112420270 112420270 C T SNP ENSG00000255484 ENST00000525984 human ensembl 70_37 -1 known intronic c.NULL NULL 0.028 - - - no_errors RP11-65M17.1 Clone_based_vega_gene ENSG00000255484 tier4 798 1 0.125156445556946 571 501 46.7350746268657 315 68 17.7545691906005 11 112640754 112640754 G C SNP ENSG00000254626 ENST00000524772 human ensembl 70_37 +1 known 5_prime_flanking_region c.-17273 NULL 0.909 - - - no_errors RP11-27G22.1 Clone_based_vega_gene ENSG00000254626 tier2 1143 0 0 1394 4 0.285714285714286 579 2 0.344234079173838 11 113939066 113939066 C T SNP ZBTB16 ENST00000335953 human ensembl 70_37 +1 known intronic c.1268+3776 e1+3776 0.000 - - - no_errors ZBTB16 HGNC ENSG00000109906 tier3 1539 0 0 1905 261 12.0443008767882 689 0 0 11 114480089 114480089 G A SNP NXPE4 ENST00000375478 human ensembl 70_37 -1 known 5_prime_flanking_region c.-14608 NULL 0.008 - - - no_errors NXPE4 HGNC ENSG00000137634 tier3 526 1 0.189753320683112 387 360 48.1927710843373 262 54 16.9811320754717 11 114622577 114622577 T G SNP NXPE2 ENST00000389586 human ensembl 70_37 +1 known 3_prime_flanking_region c.*44925 NULL 0.000 - - - no_errors NXPE2 HGNC ENSG00000204361 tier4 688 0 0 969 2 0.205973223480947 320 0 0 11 114762727 114762727 C T SNP - - - - - - - - - - - - - - - - - - tier3 684 0 0 442 393 47.0658682634731 275 59 17.6646706586826 11 115409512 115409512 A G SNP CADM1 ENST00000452722 human ensembl 70_37 -1 known 5_prime_flanking_region c.-34400 NULL 0.029 - - - no_errors CADM1 HGNC ENSG00000182985 tier3 842 0 0 1153 1 0.0866551126516464 433 3 0.688073394495413 11 116275278 116275278 C T SNP - - - - - - - - - - - - - - - - - - tier4 1061 0 0 1412 26 1.80681028492008 354 62 14.9038461538462 11 117725434 117725434 G A SNP FXYD6 ENST00000260282 human ensembl 70_37 -1 known intronic c.1+3492 e0+3492 0.010 - - - no_errors FXYD6 HGNC ENSG00000137726 tier4 722 1 0.137931034482759 530 418 44.0928270042194 304 69 18.4986595174263 11 118530928 118530928 T G SNP TREH ENST00000264029 human ensembl 70_37 -1 known intronic c.1103-255 e11-255 0.000 - - - no_errors TREH HGNC ENSG00000118094 tier4 661 0 0 1039 11 1.04761904761905 416 2 0.475059382422803 11 119157240 119157240 C T SNP CBL ENST00000264033 human ensembl 70_37 +1 known intronic c.1941+964 e11+964 0.000 - - - no_errors CBL HGNC ENSG00000110395 tier3 1378 0 0 2127 2 0.0939408172851104 681 2 0.292825768667643 11 120057487 120057487 T G SNP TRIM29 ENST00000341846 human ensembl 70_37 -1 known 5_prime_flanking_region c.-48748 NULL 0.001 - - - no_errors TRIM29 HGNC ENSG00000137699 tier3 574 0 0 824 2 0.241837968561064 235 0 0 11 120113436 120113436 C G SNP POU2F3 ENST00000543440 human ensembl 70_37 +1 known intronic c.35-3722 e2-3722 0.000 - - - no_errors POU2F3 HGNC ENSG00000137709 tier2 334 0 0 449 1 0.22075055187638 166 2 1.19047619047619 11 123733456 123733456 T A SNP OR8D4 ENST00000321355 human ensembl 70_37 +1 known 5_prime_flanking_region c.-43683 NULL 0.380 - - - no_errors OR8D4 HGNC ENSG00000181518 tier4 1399 0 0 1888 6 0.316789862724393 643 6 0.924499229583975 11 125032020 125032020 T C SNP ENSG00000254880 ENST00000532316 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-687M24.5 Clone_based_vega_gene ENSG00000254880 tier3 1343 0 0 941 751 44.3591258121677 482 93 16.1458333333333 11 125254648 125254648 A C SNP PKNOX2 ENST00000298282 human ensembl 70_37 +1 known intronic c.228-799 e3-799 0.000 - - - no_errors PKNOX2 HGNC ENSG00000165495 tier3 1224 0 0 1643 3 0.182149362477231 383 2 0.519480519480519 11 126363005 126363005 A C SNP KIRREL3 ENST00000525144 human ensembl 70_37 -1 known intronic c.434-19644 e5-19644 0.000 - - - no_errors KIRREL3 HGNC ENSG00000149571 tier3 313 0 0 467 2 0.426439232409382 154 0 0 11 126698882 126698882 C T SNP KIRREL3 ENST00000525144 human ensembl 70_37 -1 known intronic c.55+171469 e1+171469 0.000 - - - no_errors KIRREL3 HGNC ENSG00000149571 tier4 883 0 0 588 589 50 364 98 21.0300429184549 11 127107590 127107590 G A SNP - - - - - - - - - - - - - - - - - - tier3 1063 1 0.0938967136150235 686 571 45.389507154213 480 138 22.3300970873786 11 129189798 129189798 A T SNP ARHGAP32 ENST00000525234 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-155480 NULL 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region ARHGAP32 HGNC ENSG00000134909 tier3 593 0 0 426 378 47.0149253731343 268 58 17.7914110429448 11 129257876 129257876 T G SNP BARX2 ENST00000281437 human ensembl 70_37 +1 known intronic c.187+11759 e1+11759 0.146 - - - no_errors BARX2 HGNC ENSG00000043039 tier4 1465 0 0 2136 4 0.186741363211951 588 2 0.336134453781513 11 131346220 131346220 T G SNP NTM ENST00000539799 human ensembl 70_37 +1 known intronic c.82+105437 e1+105437 0.000 - - - no_errors NTM HGNC ENSG00000182667 tier3 1495 0 0 2028 4 0.196753566158387 548 4 0.723327305605787 11 131569241 131569241 G T SNP NTM ENST00000539799 human ensembl 70_37 +1 known intronic c.83-212217 e2-212217 0.000 - - - no_errors NTM HGNC ENSG00000182667 tier4 1048 1 0.0952380952380952 748 592 44.1461595824012 388 124 24.21875 11 131691081 131691081 A C SNP NTM ENST00000539799 human ensembl 70_37 +1 known intronic c.83-90377 e2-90377 0.000 - - - no_errors NTM HGNC ENSG00000182667 tier3 1843 0 0 2291 3 0.130718954248366 778 0 0 11 132233225 132233225 T G SNP NTM ENST00000539799 human ensembl 70_37 +1 known 3_prime_flanking_region c.*28185 NULL 0.000 - - - no_errors NTM HGNC ENSG00000182667 tier4 858 0 0 1239 2 0.16116035455278 436 1 0.22883295194508 11 132297050 132297050 G A SNP OPCML ENST00000541867 human ensembl 70_37 -1 known intronic c.965-6863 e8-6863 0.000 - - - no_errors OPCML HGNC ENSG00000183715 tier3 1246 0 0 1715 7 0.405327156919514 576 3 0.512820512820513 11 132544169 132544169 G T SNP OPCML ENST00000541867 human ensembl 70_37 -1 known intronic c.168-16955 e2-16955 0.000 - - - no_errors OPCML HGNC ENSG00000183715 tier3 650 0 0 973 2 0.205128205128205 308 4 1.28205128205128 11 134659145 134659145 C T SNP LOC729305 ENST00000513405 human ensembl 70_37 +1 putative 3_prime_flanking_region c.*25441 NULL 0.002 - - - no_errors RP11-469N6.1 Clone_based_vega_gene ENSG00000251226 tier3 423 1 0.234741784037559 292 305 51.0887772194305 175 54 23.2758620689655 11 134685456 134685456 T G SNP - - - - - - - - - - - - - - - - - - tier3 586 0 0 808 2 0.246913580246914 300 2 0.662251655629139 11 134851097 134851097 G C SNP ENSG00000268936 ENST00000597621 human ensembl 70_37 +1 known 5_prime_flanking_region c.-4296 NULL 0.009 - - - no_errors AP003062.1 Clone_based_ensembl_gene ENSG00000268936 tier3 274 0 0 245 131 34.7480106100796 199 0 0 12 173563 173563 G T SNP IQSEC3 ENST00000326261 human ensembl 70_37 +1 known 5_prime_flanking_region c.-2486 NULL 0.082 - - - no_errors IQSEC3 HGNC ENSG00000120645 tier4 425 0 0 637 5 0.777604976671851 188 2 1.05263157894737 12 1452943 1452943 A C SNP ERC1 ENST00000360905 human ensembl 70_37 +1 known intronic c.2781-28056 e15-28056 0.014 - - - no_errors ERC1 HGNC ENSG00000082805 tier2 1078 0 0 1470 2 0.135869565217391 472 0 0 12 2441576 2441576 C A SNP CACNA1C ENST00000399634 human ensembl 70_37 +1 known intronic c.478-116566 e4-116566 0.000 - - - no_errors CACNA1C HGNC ENSG00000151067 tier2 1318 0 0 1729 1 0.0577700751010976 595 3 0.5 12 3710568 3710568 G A SNP EFCAB4B ENST00000440314 human ensembl 70_37 -1 known 3_prime_flanking_region c.*13953 NULL 0.000 - - - no_errors EFCAB4B HGNC ENSG00000130038 tier2 2110 0 0 1488 1192 44.4444444444444 630 156 19.8473282442748 12 4387725 4387725 C G SNP CCND2 ENST00000261254 human ensembl 70_37 +1 known intronic c.412-201 e3-201 0.162 - - - no_errors CCND2 HGNC ENSG00000118971 tier2 778 0 0 548 516 48.4962406015038 311 88 21.9451371571072 12 4614788 4614788 G T SNP C12orf4 ENST00000261250 human ensembl 70_37 -1 known intronic c.1163-242 e9-242 0.000 - - - no_errors C12orf4 HGNC ENSG00000047621 tier4 1062 0 0 1628 4 0.245098039215686 470 0 0 12 5060715 5060715 G T SNP KCNA1 ENST00000382545 human ensembl 70_37 +1 known 3_prime_flanking_region c.*38683 NULL 0.000 - - - no_errors KCNA1 HGNC ENSG00000111262 tier2 688 4 0.578034682080925 771 38 4.69715698393078 338 0 0 12 5346867 5346867 A C SNP ENSG00000256115 ENST00000540237 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-319E16.1 Clone_based_vega_gene ENSG00000256115 tier2 975 0 0 1293 2 0.154440154440154 380 2 0.520833333333333 12 5433080 5433080 T C SNP ENSG00000256417 ENST00000537192 human ensembl 70_37 +1 known intronic c.NULL NULL 0.014 - - - no_errors RP11-1038A11.3 Clone_based_vega_gene ENSG00000256417 tier2 1360 0 0 1905 4 0.209533787323206 592 0 0 12 8610538 8610538 A G SNP CLEC6A ENST00000382073 human ensembl 70_37 +1 known missense c.76 p.I26V 0.001 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC6A HGNC ENSG00000205846 tier1 680 0 0 940 3 0.31813361611877 333 0 0 12 13453609 13453609 T G SNP - - - - - - - - - - - - - - - - - - tier2 997 0 0 1430 2 0.139664804469274 437 4 0.90702947845805 12 14212134 14212134 T G SNP - - - - - - - - - - - - - - - - - - tier2 769 0 0 1081 2 0.184672206832872 412 0 0 12 15241747 15241747 G T SNP RERG ENST00000256953 human ensembl 70_37 -1 known 3_prime_flanking_region c.*20297 NULL 0.000 - - - no_errors RERG HGNC ENSG00000134533 tier2 1145 1 0.087260034904014 802 644 44.536652835408 434 86 16.5384615384615 12 15808488 15808488 A C SNP EPS8 ENST00000281172 human ensembl 70_37 -1 known intronic c.1102-1261 e12-1261 0.961 - - - no_errors EPS8 HGNC ENSG00000151491 tier2 1681 0 0 2547 1 0.0392464678178964 552 2 0.36101083032491 12 18084034 18084034 A G SNP - - - - - - - - - - - - - - - - - - tier2 1143 1 0.0874125874125874 800 644 44.5983379501385 426 96 18.3206106870229 12 18675287 18675287 G A SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known intronic c.3324-15803 e24-15803 0.246 - - - no_errors PIK3C2G HGNC ENSG00000139144 tier4 1233 0 0 832 670 44.5478723404255 512 106 16.9871794871795 12 19361846 19361846 G T SNP PLEKHA5 ENST00000317589 human ensembl 70_37 +1 known intronic c.228-45028 e4-45028 0.106 - - - no_errors PLEKHA5 HGNC ENSG00000052126 tier2 1519 0 0 2197 3 0.136301681054066 824 2 0.242130750605327 12 20451532 20451532 T G SNP - - - - - - - - - - - - - - - - - - tier4 647 0 0 885 3 0.337457817772778 362 0 0 12 21182301 21182301 G T SNP SLCO1B3 ENST00000553473 human ensembl 70_37 +1 known intronic c.1866-37952 e14-37952 0.147 - - - no_errors SLCO1B3 HGNC ENSG00000111700 tier4 917 2 0.217627856365615 650 418 39.1385767790262 374 71 15.9550561797753 12 21189497 21189497 A T SNP SLCO1B3 ENST00000553473 human ensembl 70_37 +1 known intronic c.1866-30756 e14-30756 0.234 - - - no_errors SLCO1B3 HGNC ENSG00000111700 tier4 496 0 0 610 2 0.326797385620915 226 0 0 12 22307442 22307442 T G SNP ST8SIA1 ENST00000544732 human ensembl 70_37 -1 known intronic c.NULL NULL 0.023 - - - no_errors ST8SIA1 HGNC ENSG00000111728 tier4 1567 0 0 2286 2 0.0874125874125874 768 1 0.130039011703511 12 23096652 23096652 A T SNP ENSG00000256995 ENST00000538317 human ensembl 70_37 +1 known intronic c.NULL NULL 0.023 - - - no_errors RP11-114G22.1 Clone_based_vega_gene ENSG00000256995 tier2 1568 0 0 1059 885 45.5246913580247 560 137 19.6556671449067 12 23255419 23255419 A C SNP ENSG00000256995 ENST00000540895 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-114G22.1 Clone_based_vega_gene ENSG00000256995 tier2 1618 0 0 1446 623 30.1111648139198 829 0 0 12 24274307 24274307 C A SNP - - - - - - - - - - - - - - - - - - tier4 611 0 0 793 2 0.251572327044025 292 2 0.675675675675676 12 24890814 24890814 T G SNP ENSG00000255745 ENST00000536131 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors RP11-625L16.1 Clone_based_vega_gene ENSG00000255745 tier2 768 0 0 1033 3 0.289296046287367 335 1 0.29673590504451 12 25116277 25116277 A C SNP BCAT1 ENST00000261192 human ensembl 70_37 -1 known 5_prime_flanking_region c.-14411 NULL 0.153 - - - no_errors BCAT1 HGNC ENSG00000060982 tier4 489 0 0 731 3 0.408719346049046 236 2 0.840336134453781 12 25664922 25664922 C T SNP IFLTD1 ENST00000458174 human ensembl 70_37 -1 known intronic c.1189+6807 e7+6807 0.012 - - - no_errors IFLTD1 HGNC ENSG00000152936 tier4 1030 1 0.0969932104752667 749 592 44.1461595824012 471 132 21.8905472636816 12 27181905 27181905 A G SNP MED21 ENST00000536503 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MED21 HGNC ENSG00000152944 tier1 1333 0 0 2047 1 0.048828125 533 4 0.74487895716946 12 27727169 27727169 A G SNP PPFIBP1 ENST00000318304 human ensembl 70_37 +1 known intronic c.1-3916 e1-3916 0.000 - - - no_errors PPFIBP1 HGNC ENSG00000110841 tier2 962 0 0 1442 4 0.276243093922652 432 1 0.23094688221709 12 28578074 28578074 A C SNP CCDC91 ENST00000381259 human ensembl 70_37 +1 known intronic c.763-25020 e8-25020 0.006 - - - no_errors CCDC91 HGNC ENSG00000123106 tier4 742 0 0 1049 1 0.0951474785918173 395 4 1.00250626566416 12 28893564 28893564 A C SNP - - - - - - - - - - - - - - - - - - tier2 1004 0 0 1328 2 0.150262960180316 417 0 0 12 30679207 30679207 T G SNP ENSG00000258202 ENST00000551867 human ensembl 70_37 +1 known 3_prime_flanking_region c.*33972 NULL 0.076 - - - no_coding_region:pseudogene RP11-776A13.2 Clone_based_vega_gene ENSG00000258202 tier4 626 0 0 872 2 0.22883295194508 298 3 0.996677740863787 12 31054366 31054366 T C SNP TSPAN11 ENST00000261177 human ensembl 70_37 +1 known 5_prime_flanking_region c.-52560 NULL 0.157 - - - no_errors TSPAN11 HGNC ENSG00000110900 tier4 937 0 0 1172 3 0.25531914893617 419 0 0 12 31312040 31312040 A C SNP LOC100509445 ENST00000398963 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_coding_region:pseudogene RP11-551L14.1 Clone_based_vega_gene ENSG00000177359 tier2 1322 0 0 1723 2 0.115874855156431 529 0 0 12 31600672 31600672 T G SNP DENND5B ENST00000306833 human ensembl 70_37 -1 known missense c.1766 p.Y589S 1.000 pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 tier1 871 0 0 1460 3 0.205058099794942 396 1 0.251889168765743 12 32789167 32789167 G T SNP FGD4 ENST00000427716 human ensembl 70_37 +1 known intronic c.1903-2422 e14-2422 0.044 - - - no_errors FGD4 HGNC ENSG00000139132 tier3 982 1 0.101626016260163 819 608 42.6068675543097 395 65 14.1304347826087 12 33196353 33196353 T G SNP ENSG00000238911 ENST00000458854 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-1598 NULL 0.003 - - - no_errors AC026357.1 Clone_based_ensembl_gene ENSG00000238911 tier3 891 0 0 1201 4 0.33167495854063 443 1 0.225225225225225 12 33774645 33774645 T G SNP ENSG00000212475 ENST00000391173 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*45510 NULL 0.012 - - - no_errors U6 RFAM ENSG00000212475 tier4 1496 0 0 2173 2 0.0919117647058824 519 0 0 12 33980597 33980597 T A SNP - - - - - - - - - - - - - - - - - - tier4 1475 0 0 2013 2 0.0992063492063492 732 0 0 12 34538390 34538390 G A SNP - - - - - - - - - - - - - - - - - - tier4 265 0 0 135 126 48.2758620689655 176 26 12.8712871287129 12 34831633 34831633 C T SNP - - - - - - - - - - - - - - - - - - tier4 385 0 0 537 2 0.371057513914657 335 0 0 12 34837224 34837224 C G SNP - - - - - - - - - - - - - - - - - - tier4 1082 0 0 1537 3 0.194678780012979 666 0 0 12 34837234 34837234 A C SNP - - - - - - - - - - - - - - - - - - tier4 1139 0 0 1623 3 0.18450184501845 733 0 0 12 34837247 34837247 A T SNP - - - - - - - - - - - - - - - - - - tier4 1174 0 0 1651 3 0.181378476420798 759 0 0 12 34851976 34851976 G A SNP - - - - - - - - - - - - - - - - - - tier4 385 0 0 562 2 0.353982300884956 354 0 0 12 37920223 37920223 C G SNP ENSG00000258368 ENST00000547456 human ensembl 70_37 +1 known 5_prime_flanking_region c.-49028 NULL 0.425 - - - no_coding_region:pseudogene RP11-125N22.2 Clone_based_vega_gene ENSG00000258368 tier4 952 0 0 950 388 28.9985052316891 529 0 0 12 38034516 38034516 T A SNP - - - - - - - - - - - - - - - - - - tier4 299 0 0 347 2 0.573065902578797 111 0 0 12 38074548 38074548 G C SNP - - - - - - - - - - - - - - - - - - tier4 483 0 0 569 2 0.350262697022767 300 0 0 12 38084210 38084210 G A SNP - - - - - - - - - - - - - - - - - - tier4 551 0 0 650 4 0.611620795107034 335 0 0 12 38115284 38115284 G T SNP - - - - - - - - - - - - - - - - - - tier4 985 0 0 1325 4 0.300751879699248 507 3 0.588235294117647 12 38198402 38198402 G C SNP - - - - - - - - - - - - - - - - - - tier4 659 0 0 906 2 0.220264317180617 454 2 0.43859649122807 12 39435109 39435109 C T SNP ENSG00000257586 ENST00000548295 human ensembl 70_37 -1 known 5_prime_flanking_region c.-44425 NULL 0.000 - - - no_coding_region:pseudogene RP11-554L12.3 Clone_based_vega_gene ENSG00000257586 tier3 1934 2 0.103305785123967 1377 1057 43.4086242299795 613 138 18.3266932270916 12 40212094 40212094 T G SNP SLC2A13 ENST00000280871 human ensembl 70_37 -1 known intronic c.1445+11811 e7+11811 0.001 - - - no_errors SLC2A13 HGNC ENSG00000151229 tier3 808 0 0 960 2 0.207684319833853 385 0 0 12 41201843 41201843 C A SNP CNTN1 ENST00000551295 human ensembl 70_37 +1 known intronic c.1-100316 e1-100316 0.000 - - - no_errors CNTN1 HGNC ENSG00000018236 tier3 960 0 0 1245 3 0.240192153722978 510 4 0.778210116731518 12 41556051 41556051 T G SNP PDZRN4 ENST00000402685 human ensembl 70_37 +1 known 5_prime_flanking_region c.-26207 NULL 0.006 - - - no_errors PDZRN4 HGNC ENSG00000165966 tier4 1006 0 0 1496 6 0.399201596806387 558 2 0.357142857142857 12 41672761 41672761 G A SNP PDZRN4 ENST00000402685 human ensembl 70_37 +1 known intronic c.843+84771 e3+84771 0.000 - - - no_errors PDZRN4 HGNC ENSG00000165966 tier3 981 0 0 1294 3 0.23130300693909 515 1 0.193050193050193 12 43341858 43341858 C A SNP ENSG00000257849 ENST00000553006 human ensembl 70_37 +1 known 5_prime_flanking_region c.-18067 NULL 0.000 - - - no_errors RP11-547C5.1 Clone_based_vega_gene ENSG00000257849 tier3 1241 1 0.080450522928399 1545 187 10.7905366416619 617 2 0.322061191626409 12 43688466 43688466 C T SNP ENSG00000215993 ENST00000401174 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-3083 NULL 0.038 - - - no_errors AC079603.1 Clone_based_ensembl_gene ENSG00000215993 tier3 863 1 0.115740740740741 667 542 44.7933884297521 433 90 17.208413001912 12 43872341 43872341 C T SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known intronic c.1118-9833 e8-9833 0.009 - - - no_errors ADAMTS20 HGNC ENSG00000173157 tier4 1175 3 0.254452926208651 813 491 37.6533742331288 507 84 14.2131979695431 12 44198740 44198740 C A SNP TWF1 ENST00000325127 human ensembl 70_37 -1 known intronic c.128-365 e2-365 0.015 - - - no_errors TWF1 HGNC ENSG00000151239 tier3 929 0 0 1269 1 0.078740157480315 471 6 1.25786163522013 12 45589954 45589954 T G SNP PLEKHA8P1 ENST00000256692 human ensembl 70_37 -1 known intronic c.NULL NULL 0.003 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 tier3 1067 0 0 1489 2 0.134138162307176 452 2 0.43859649122807 12 46632541 46632541 A G SNP SLC38A1 ENST00000398637 human ensembl 70_37 -1 known intronic c.122+921 e1+921 0.068 - - - no_errors SLC38A1 HGNC ENSG00000111371 tier3 472 0 0 606 2 0.328947368421053 219 0 0 12 47901986 47901986 A C SNP ENSG00000258369 ENST00000549509 human ensembl 70_37 +1 known 3_prime_flanking_region c.*44582 NULL 0.000 - - - no_coding_region:pseudogene RP1-90J4.2 Clone_based_vega_gene ENSG00000258369 tier4 890 0 0 1384 7 0.50251256281407 398 7 1.72839506172839 12 49952686 49952686 G A SNP MCRS1 ENST00000357123 human ensembl 70_37 -1 known silent c.1281 p.I427 0.111 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 tier1 147 0 0 224 4 1.75438596491228 120 0 0 12 49961604 49961604 T G SNP MCRS1 ENST00000548334 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-1090 NULL 0.000 - - - no_stop_codon:bad_bp_length_for_coding_region MCRS1 HGNC ENSG00000187778 tier2 201 0 0 308 2 0.645161290322581 92 0 0 12 50234082 50234082 G A SNP BCDIN3D-AS1 ENST00000548872 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BCDIN3D-AS1 HGNC ENSG00000258057 tier1 535 0 0 813 2 0.245098039215686 305 4 1.28617363344051 12 50547355 50547355 T C SNP CERS5 ENST00000317551 human ensembl 70_37 -1 known intronic c.198-9515 e2-9515 0.068 - - - no_errors CERS5 HGNC ENSG00000139624 tier4 537 0 0 809 6 0.736196319018405 270 75 21.7391304347826 12 51241845 51241845 G T SNP TMPRSS12 ENST00000398458 human ensembl 70_37 +1 known intronic c.383+4025 e2+4025 1.000 - - - no_errors TMPRSS12 HGNC ENSG00000186452 tier3 812 0 0 1227 4 0.32441200324412 446 4 0.888888888888889 12 51947319 51947319 T G SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known 5_prime_flanking_region c.-109283 NULL 0.331 - - - no_errors SCN8A HGNC ENSG00000196876 tier4 345 0 0 463 2 0.429184549356223 187 0 0 12 52310871 52310871 T G SNP ACVRL1 ENST00000550683 human ensembl 70_37 +1 known intronic c.1288+854 e7+854 0.003 - - - no_errors ACVRL1 HGNC ENSG00000139567 tier4 1155 0 0 1714 2 0.11648223645894 584 0 0 12 52536673 52536673 A G SNP ENSG00000257989 ENST00000547538 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-38592 NULL 0.000 - - - no_errors RP1-288H2.2 Clone_based_vega_gene ENSG00000257989 tier4 454 0 0 662 2 0.301204819277108 251 0 0 12 52577776 52577776 G A SNP KRT80 ENST00000394815 human ensembl 70_37 -1 known intronic c.509+1387 e2+1387 0.000 - - - no_errors KRT80 HGNC ENSG00000167767 tier3 983 0 0 797 680 46.039268788084 388 89 18.5416666666667 12 53072530 53072530 A G SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known missense c.602 p.L201P 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 tier1 250 0 0 210 0 0 231 13 5.33 12 54957980 54957980 C T SNP PDE1B ENST00000243052 human ensembl 70_37 +1 known intronic c.114-2778 e2-2778 0.006 - - - no_errors PDE1B HGNC ENSG00000123360 tier3 1683 0 0 1694 804 32.1728691476591 734 1 0.136054421768707 12 55464159 55464159 A C SNP OR9K1P ENST00000326513 human ensembl 70_37 +1 known 5_prime_flanking_region c.-45158 NULL 0.003 - - - no_coding_region:pseudogene OR9K1P HGNC ENSG00000196534 tier3 735 0 0 938 3 0.318809776833156 306 0 0 12 55745126 55745126 A C SNP OR6C75 ENST00000343399 human ensembl 70_37 +1 known 5_prime_flanking_region c.-13769 NULL 0.000 - - - no_errors OR6C75 HGNC ENSG00000187857 tier3 420 0 0 587 2 0.33955857385399 221 4 1.77777777777778 12 57740300 57740300 A T SNP R3HDM2 ENST00000347140 human ensembl 70_37 -1 known intronic c.1-36054 e1-36054 0.007 - - - no_errors R3HDM2 HGNC ENSG00000179912 tier4 1938 4 0.205973223480947 2049 872 29.8527901403629 910 2 0.219298245614035 12 57858524 57858524 C A SNP GLI1 ENST00000228682 human ensembl 70_37 +1 known missense c.262 p.L88M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 tier1 304 0 0 284 231 44.8543689320388 173 28 13.9303482587065 12 57858524 57858524 C A SNP GLI1 ENST00000228682 human ensembl 70_37 +1 known missense c.262 p.L88M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 tier1 525 0 0 424 345 44.8634590377113 358 69 16.1592505854801 12 57894044 57894044 A G SNP MARS ENST00000549827 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*57894044 NULL 0.000 - - - no_coding_region MARS HGNC ENSG00000166986 tier3 736 0 0 1260 2 0.158478605388273 348 2 0.571428571428571 12 57942451 57942451 T C SNP KIF5A ENST00000455537 human ensembl 70_37 +1 known 5_prime_flanking_region c.-1604 NULL 0.989 - - - no_errors KIF5A HGNC ENSG00000155980 tier3 406 0 0 737 2 0.27063599458728 252 0 0 12 58656095 58656095 A G SNP RPL21P103 ENST00000479921 human ensembl 70_37 +1 known 3_prime_flanking_region c.*17447 NULL 0.000 - - - no_coding_region:pseudogene RPL21P103 HGNC ENSG00000241423 tier3 1061 0 0 1433 2 0.139372822299652 411 2 0.484261501210654 12 58733129 58733129 C T SNP - - - - - - - - - - - - - - - - - - tier4 342 0 0 323 136 29.6296296296296 222 0 0 12 58857203 58857203 T G SNP - - - - - - - - - - - - - - - - - - tier3 668 0 0 852 1 0.117233294255569 292 4 1.35135135135135 12 60555663 60555663 A G SNP - - - - - - - - - - - - - - - - - - tier3 1724 0 0 1107 900 44.8430493273543 730 96 11.5942028985507 12 61075020 61075020 A G SNP - - - - - - - - - - - - - - - - - - tier4 1527 0 0 1996 3 0.150075037518759 693 0 0 12 61424266 61424266 A G SNP - - - - - - - - - - - - - - - - - - tier4 597 2 0.333889816360601 429 329 43.3465085638999 276 77 21.8130311614731 12 61603072 61603072 T A SNP ENSG00000257308 ENST00000548612 human ensembl 70_37 -1 known 3_prime_flanking_region c.*21868 NULL 0.043 - - - no_coding_region:pseudogene RP11-471N19.1 Clone_based_vega_gene ENSG00000257308 tier4 832 0 0 479 416 46.4804469273743 283 79 21.8232044198895 12 61806572 61806572 A C SNP - - - - - - - - - - - - - - - - - - tier3 1540 0 0 1866 2 0.107009095773141 662 0 0 12 63304216 63304216 A G SNP PPM1H ENST00000228705 human ensembl 70_37 -1 known intronic c.245+24056 e1+24056 0.000 - - - no_errors PPM1H HGNC ENSG00000111110 tier3 1513 0 0 2206 7 0.31616982836495 594 2 0.335570469798658 12 63538418 63538418 T G SNP ENSG00000257973 ENST00000547051 human ensembl 70_37 +1 known 5_prime_flanking_region c.-6427 NULL 0.001 - - - no_errors RP11-715H19.2 Clone_based_vega_gene ENSG00000257973 tier3 747 0 0 997 4 0.399201596806387 366 2 0.543478260869565 12 63655918 63655918 G A SNP ENSG00000257332 ENST00000552536 human ensembl 70_37 +1 known 5_prime_flanking_region c.-9266 NULL 0.091 - - - no_coding_region:pseudogene RP11-1022B3.2 Clone_based_vega_gene ENSG00000257332 tier4 357 0 0 468 1 0.212765957446809 147 5 3.28947368421053 12 65628096 65628096 A C SNP LEMD3 ENST00000308330 human ensembl 70_37 +1 known intronic c.1696-4186 e5-4186 0.001 - - - no_errors LEMD3 HGNC ENSG00000174106 tier4 1034 0 0 1464 2 0.136425648021828 425 2 0.468384074941452 12 66098659 66098659 A T SNP ENSG00000256915 ENST00000540875 human ensembl 70_37 +1 known 3_prime_flanking_region c.*41580 NULL 0.027 - - - no_errors RP11-221N13.4 Clone_based_vega_gene ENSG00000256915 tier4 967 0 0 1381 2 0.144613159797542 510 3 0.584795321637427 12 66132927 66132927 G A SNP RPSAP52 ENST00000489520 human ensembl 70_37 -1 known 3_prime_flanking_region c.*18873 NULL 0.003 - - - no_errors RPSAP52 HGNC ENSG00000241749 tier4 1668 2 0.119617224880383 2268 213 8.58524788391778 480 0 0 12 66391068 66391068 C T SNP ENSG00000256083 ENST00000544279 human ensembl 70_37 -1 known 5_prime_flanking_region c.-48809 NULL 0.000 - - - no_errors RP11-366L20.3 Clone_based_vega_gene ENSG00000256083 tier4 615 0 0 566 269 32.2155688622755 349 0 0 12 66684701 66684701 T G SNP HELB ENST00000247815 human ensembl 70_37 +1 known 5_prime_flanking_region c.-11683 NULL 0.025 - - - no_errors HELB HGNC ENSG00000127311 tier3 1233 0 0 1904 2 0.104931794333683 639 0 0 12 67416064 67416064 T G SNP ENSG00000256248 ENST00000535721 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-123O10.4 Clone_based_vega_gene ENSG00000256248 tier4 1027 0 0 1390 3 0.215362526920316 573 0 0 12 70366201 70366201 T G SNP ENSG00000257815 ENST00000549419 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.000 - - - no_errors RP11-611E13.2 Clone_based_vega_gene ENSG00000257815 tier4 742 0 0 1013 2 0.197044334975369 325 0 0 12 71090454 71090454 T A SNP PTPRR ENST00000283228 human ensembl 70_37 -1 known intronic c.1279+1591 e8+1591 0.000 - - - no_errors PTPRR HGNC ENSG00000153233 tier4 956 1 0.104493207941484 712 604 45.8966565349544 362 112 23.6286919831224 12 72585292 72585292 A G SNP TRHDE ENST00000548156 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors TRHDE HGNC ENSG00000072657 tier3 1226 0 0 1631 2 0.122324159021407 570 0 0 12 72837518 72837518 G A SNP TRHDE ENST00000261180 human ensembl 70_37 +1 known intronic c.1181-26020 e4-26020 0.001 - - - no_errors TRHDE HGNC ENSG00000072657 tier3 1121 0 0 684 622 47.5535168195719 482 87 15.2899824253076 12 73802563 73802563 T A SNP ENSG00000258109 ENST00000549058 human ensembl 70_37 -1 known intronic c.NULL NULL 0.036 - - - no_errors RP11-314D7.4 Clone_based_vega_gene ENSG00000258109 tier3 762 0 0 987 3 0.30241935483871 317 4 1.24610591900312 12 74284286 74284286 A C SNP ENSG00000258109 ENST00000549058 human ensembl 70_37 -1 known intronic c.NULL NULL 0.052 - - - no_errors RP11-314D7.4 Clone_based_vega_gene ENSG00000258109 tier3 1788 0 0 2315 2 0.086244070720138 759 0 0 12 74571698 74571698 T G SNP LOC100507377 ENST00000549905 human ensembl 70_37 -1 known intronic c.NULL NULL 0.007 - - - no_errors RP11-81H3.2 Clone_based_vega_gene ENSG00000251138 tier4 1882 0 0 2438 5 0.204666393778142 660 0 0 12 75221487 75221487 T C SNP - - - - - - - - - - - - - - - - - - tier3 1064 0 0 746 462 38.2450331125828 438 63 12.5748502994012 12 75422717 75422717 G T SNP ENSG00000257434 ENST00000547040 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.004 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 tier3 849 0 0 1122 7 0.620017714791851 495 0 0 12 75441488 75441488 G A SNP KCNC2 ENST00000549446 human ensembl 70_37 -1 known intronic c.1780+445 e3+445 0.000 - - - no_errors KCNC2 HGNC ENSG00000166006 tier3 1513 0 0 1168 879 42.919921875 564 107 15.946348733234 12 75801454 75801454 T G SNP GLIPR1L2 ENST00000550916 human ensembl 70_37 +1 known intronic c.235-2760 e2-2760 0.002 - - - no_errors GLIPR1L2 HGNC ENSG00000180481 tier4 1007 0 0 1460 2 0.136798905608755 453 0 0 12 76074078 76074078 T C SNP ENSG00000258077 ENST00000552856 human ensembl 70_37 -1 known intronic c.NULL NULL 0.002 - - - no_errors RP11-114H23.1 Clone_based_vega_gene ENSG00000258077 tier4 821 0 0 1250 4 0.318979266347687 366 1 0.272479564032698 12 77502410 77502410 C G SNP E2F7 ENST00000322886 human ensembl 70_37 -1 known 5_prime_flanking_region c.-43995 NULL 0.002 - - - no_errors E2F7 HGNC ENSG00000165891 tier3 1107 0 0 798 669 45.6032719836401 492 83 14.1638225255973 12 78427983 78427983 C T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known intronic c.2023+12341 e9+12341 0.000 - - - no_errors NAV3 HGNC ENSG00000067798 tier4 1670 0 0 1238 995 44.5588893864756 608 143 18.9403973509934 12 79018423 79018423 T G SNP - - - - - - - - - - - - - - - - - - tier3 935 0 0 1192 7 0.583819849874896 399 2 0.498753117206983 12 79211578 79211578 G A SNP SYT1 ENST00000261205 human ensembl 70_37 +1 known 5_prime_flanking_region c.-399722 NULL 0.012 - - - no_errors SYT1 HGNC ENSG00000067715 tier4 2050 3 0.14591439688716 2738 53 1.89760114572145 610 141 18.75 12 80127164 80127164 G A SNP ENSG00000258048 ENST00000551995 human ensembl 70_37 +1 known intronic c.NULL NULL 0.326 - - - no_errors RP11-530C5.1 Clone_based_vega_gene ENSG00000258048 tier4 839 0 0 1148 3 0.260416666666667 432 0 0 12 80403350 80403350 C T SNP ENSG00000239473 ENST00000488396 human ensembl 70_37 +1 known 5_prime_flanking_region c.-19323 NULL 0.069 - - - no_coding_region:pseudogene RP1-170B16.1 Clone_based_vega_gene ENSG00000239473 tier4 1763 0 0 2298 57 2.4203821656051 819 2 0.242718446601942 12 80863526 80863526 A C SNP PTPRQ ENST00000266688 human ensembl 70_37 +1 known intronic c.1027+909 e12+909 0.000 - - - no_errors PTPRQ HGNC ENSG00000139304 tier3 670 0 0 962 2 0.20746887966805 348 1 0.284900284900285 12 81333899 81333899 G C SNP ACSS3 ENST00000549175 human ensembl 70_37 +1 putative intronic c.1+2202 e0+2202 0.003 - - - no_stop_codon:bad_bp_length_for_coding_region ACSS3 HGNC ENSG00000111058 tier3 1004 0 0 676 514 43.1570109151973 475 68 12.5230202578269 12 81809796 81809796 T C SNP PPFIA2 ENST00000549396 human ensembl 70_37 -1 known intronic c.646-10114 e6-10114 0.001 - - - no_errors PPFIA2 HGNC ENSG00000139220 tier3 1414 0 0 1815 25 1.35869565217391 539 129 19.2537313432836 12 81877698 81877698 T C SNP PPFIA2 ENST00000549396 human ensembl 70_37 -1 known intronic c.304-26053 e3-26053 0.000 - - - no_errors PPFIA2 HGNC ENSG00000139220 tier3 757 0 0 1002 3 0.297914597815293 372 0 0 12 82326459 82326459 A T SNP ENSG00000257747 ENST00000550506 human ensembl 70_37 +1 known 5_prime_flanking_region c.-21039 NULL 0.003 - - - no_errors RP11-362A1.1 Clone_based_vega_gene ENSG00000257747 tier4 535 0 0 648 2 0.307692307692308 245 0 0 12 83726854 83726854 G C SNP - - - - - - - - - - - - - - - - - - tier3 1454 0 0 1356 505 27.1359484148307 679 0 0 12 83806017 83806017 T A SNP - - - - - - - - - - - - - - - - - - tier4 1799 0 0 1382 952 40.7708779443255 629 169 21.1779448621554 12 83880612 83880612 T C SNP - - - - - - - - - - - - - - - - - - tier4 531 0 0 689 1 0.144927536231884 287 2 0.69204152249135 12 84558022 84558022 G T SNP ENSG00000221148 ENST00000408221 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*19081 NULL 0.000 - - - no_errors SNORA3 RFAM ENSG00000221148 tier4 805 0 0 1041 3 0.286806883365201 423 0 0 12 84588753 84588753 A C SNP ENSG00000221148 ENST00000408221 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-11526 NULL 0.015 - - - no_errors SNORA3 RFAM ENSG00000221148 tier4 824 0 0 1157 6 0.515907136715391 363 3 0.819672131147541 12 85625395 85625395 T A SNP LRRIQ1 ENST00000393217 human ensembl 70_37 +1 known intronic c.4956-1079 e25-1079 0.006 - - - no_errors LRRIQ1 HGNC ENSG00000133640 tier4 1228 1 0.081366965012205 856 722 45.7251424952502 504 120 19.2307692307692 12 86122444 86122444 A G SNP - - - - - - - - - - - - - - - - - - tier4 963 0 0 1366 4 0.291757840991977 395 0 0 12 86553122 86553122 A C SNP MGAT4C ENST00000550460 human ensembl 70_37 -1 known intronic c.1-109621 e1-109621 0.042 - - - no_errors MGAT4C HGNC ENSG00000182050 tier4 1532 0 0 2027 2 0.098570724494825 573 1 0.174216027874564 12 88995346 88995346 A C SNP KITLG ENST00000228280 human ensembl 70_37 -1 known 5_prime_flanking_region c.-21291 NULL 0.009 - - - no_errors KITLG HGNC ENSG00000049130 tier4 877 0 0 1268 2 0.15748031496063 376 2 0.526315789473684 12 89417564 89417564 G A SNP LOC728084 ENST00000500381 human ensembl 70_37 -1 known 5_prime_flanking_region c.-4108 NULL 0.063 - - - no_errors RP11-13A1.1 Clone_based_vega_gene ENSG00000246363 tier3 1554 0 0 1140 871 43.2687531048187 520 113 17.8515007898894 12 89425398 89425398 C T SNP LOC728084 ENST00000500381 human ensembl 70_37 -1 known 5_prime_flanking_region c.-11942 NULL 0.000 - - - no_errors RP11-13A1.1 Clone_based_vega_gene ENSG00000246363 tier3 1320 0 0 922 654 41.4711477488903 437 102 18.9239332096475 12 90646940 90646940 T G SNP ENSG00000258183 ENST00000548172 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40160 NULL 0.004 - - - no_errors RP11-753N8.1 Clone_based_vega_gene ENSG00000258183 tier3 1243 0 0 1710 2 0.116822429906542 395 2 0.503778337531486 12 90823124 90823124 C T SNP - - - - - - - - - - - - - - - - - - tier3 619 1 0.161290322580645 400 329 45.0684931506849 305 42 12.1037463976945 12 91560252 91560252 C T SNP DCN ENST00000052754 human ensembl 70_37 -1 known intronic c.212-1758 e2-1758 0.235 - - - no_errors DCN HGNC ENSG00000011465 tier3 1140 1 0.0876424189307625 829 619 42.7486187845304 405 116 22.2648752399232 12 93696802 93696802 C T SNP ENSG00000257512 ENST00000547118 human ensembl 70_37 +1 known 5_prime_flanking_region c.-11783 NULL 0.000 - - - no_errors RP11-486A14.1 Clone_based_vega_gene ENSG00000257512 tier3 1093 0 0 846 727 46.2174189446917 471 100 17.3310225303293 12 93743917 93743917 C T SNP LOC643339 ENST00000548890 human ensembl 70_37 -1 known intronic c.NULL NULL 0.006 - - - no_errors RP11-486A14.2 Clone_based_vega_gene ENSG00000257252 tier3 960 0 0 758 654 46.3172804532578 455 82 15.2133580705009 12 94376237 94376237 A C SNP ENSG00000257283 ENST00000550687 human ensembl 70_37 -1 known 5_prime_flanking_region c.-38858 NULL 0.060 - - - no_errors RP11-1060G2.1 Clone_based_vega_gene ENSG00000257283 tier2 867 0 0 1306 1 0.0764525993883792 361 2 0.546448087431694 12 95053304 95053304 G A SNP TMCC3 ENST00000261226 human ensembl 70_37 -1 known 5_prime_flanking_region c.-9098 NULL 0.007 - - - no_errors TMCC3 HGNC ENSG00000057704 tier3 827 0 0 605 494 44.9499545040946 384 91 19.1578947368421 12 96416471 96416471 A C SNP LTA4H ENST00000228740 human ensembl 70_37 -1 known intronic c.481-442 e5-442 0.001 - - - no_errors LTA4H HGNC ENSG00000111144 tier4 748 0 0 1135 2 0.175592625109745 365 2 0.539083557951483 12 96672595 96672595 A C SNP CDK17 ENST00000261211 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*1425 NULL 1.000 - - - no_errors CDK17 HGNC ENSG00000059758 tier2 1572 0 0 2564 2 0.0778513040093422 622 2 0.320512820512821 12 98096594 98096594 T G SNP RNU6-36 ENST00000384172 human ensembl 70_37 +1 known 5_prime_flanking_region c.-18900 NULL 0.001 - - - no_errors RNU6-36 HGNC ENSG00000206899 tier4 515 0 0 700 2 0.284900284900285 289 3 1.02739726027397 12 98858497 98858497 T C SNP SLC9A7P1 ENST00000554295 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-7574 NULL 0.000 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 tier4 652 0 0 1103 2 0.180995475113122 284 1 0.350877192982456 12 99609080 99609080 T C SNP ANKS1B ENST00000329257 human ensembl 70_37 -1 known intronic c.2419+29040 e14+29040 0.262 - - - no_errors ANKS1B HGNC ENSG00000185046 tier4 286 0 0 211 201 48.7864077669903 147 55 27.2277227722772 12 100760973 100760973 C T SNP SLC17A8 ENST00000323346 human ensembl 70_37 +1 known intronic c.101+9703 e1+9703 0.001 - - - no_errors SLC17A8 HGNC ENSG00000179520 tier4 1158 1 0.0862812769628991 848 699 45.1258876694642 496 91 15.5025553662692 12 103139535 103139535 G A SNP - - - - - - - - - - - - - - - - - - tier3 1368 0 0 965 761 44.0393518518519 519 119 18.4782608695652 12 103520312 103520312 C T SNP ENSG00000257703 ENST00000548415 human ensembl 70_37 -1 known intronic c.NULL NULL 0.024 - - - no_errors RP11-328J6.1 Clone_based_vega_gene ENSG00000257703 tier4 986 2 0.202429149797571 646 497 43.4440559440559 390 121 23.495145631068 12 105103137 105103137 T G SNP CHST11 ENST00000303694 human ensembl 70_37 +1 known intronic c.205-47590 e3-47590 0.001 - - - no_errors CHST11 HGNC ENSG00000171310 tier3 455 0 0 627 1 0.159235668789809 282 2 0.704225352112676 12 106257590 106257590 C T SNP - - - - - - - - - - - - - - - - - - tier3 1184 0 0 827 651 44.0460081190798 427 98 18.6311787072243 12 107177556 107177556 G T SNP RIC8B ENST00000392837 human ensembl 70_37 +1 known intronic c.85-219 e2-219 0.000 - - - no_errors RIC8B HGNC ENSG00000111785 tier4 769 0 0 996 2 0.200400801603206 377 5 1.30208333333333 12 107718821 107718821 A C SNP BTBD11 ENST00000280758 human ensembl 70_37 +1 known intronic c.1135+4969 e1+4969 0.000 - - - no_errors BTBD11 HGNC ENSG00000151136 tier4 987 0 0 1386 4 0.287769784172662 514 1 0.192678227360308 12 108284681 108284681 T A SNP ENSG00000257398 ENST00000547452 human ensembl 70_37 -1 known 5_prime_flanking_region c.-26937 NULL 0.002 - - - no_errors RP11-554D14.6 Clone_based_vega_gene ENSG00000257398 tier3 1423 0 0 1791 2 0.111482720178372 534 0 0 12 110213583 110213583 T C SNP FAM222A-AS1 ENST00000536474 human ensembl 70_37 -1 known 5_prime_flanking_region c.-39821 NULL 0.002 - - - no_errors FAM222A-AS1 HGNC ENSG00000255650 tier2 653 0 0 825 2 0.241254523522316 309 3 0.949367088607595 12 110994942 110994942 T G SNP PPTC7 ENST00000354300 human ensembl 70_37 -1 known intronic c.224-5169 e2-5169 0.000 - - - no_errors PPTC7 HGNC ENSG00000196850 tier4 891 0 0 1487 2 0.134318334452653 530 0 0 12 111683011 111683011 A G SNP CUX2 ENST00000261726 human ensembl 70_37 +1 known intronic c.223-18554 e4-18554 0.004 - - - no_errors CUX2 HGNC ENSG00000111249 tier3 869 0 0 1344 4 0.296515937731653 438 1 0.227790432801822 12 112078305 112078305 A G SNP ATXN2 ENST00000377617 human ensembl 70_37 -1 known 5_prime_flanking_region c.-40987 NULL 0.056 - - - no_errors ATXN2 HGNC ENSG00000204842 tier3 528 1 0.189035916824197 500 440 46.8085106382979 284 77 21.0958904109589 12 112926379 112926379 C T SNP PTPN11 ENST00000351677 human ensembl 70_37 +1 known intronic c.1447+65 e12+65 0.000 - - - no_errors PTPN11 HGNC ENSG00000179295 tier3 1272 0 0 1760 235 11.7794486215539 649 0 0 12 113016150 113016150 C A SNP RPH3A ENST00000543106 human ensembl 70_37 +1 known intronic c.1+3027 e0+3027 0.000 - - - no_errors RPH3A HGNC ENSG00000089169 tier3 1215 1 0.0822368421052632 1860 1 0.0537056928034372 643 49 7.08092485549133 12 114865395 114865395 C T SNP TBX5 ENST00000310346 human ensembl 70_37 -1 known 5_prime_flanking_region c.-23692 NULL 0.000 - - - no_errors TBX5 HGNC ENSG00000089225 tier4 1008 0 0 1436 2 0.138985406532314 422 3 0.705882352941176 12 115693905 115693905 C A SNP ENSG00000257519 ENST00000546696 human ensembl 70_37 +1 known 5_prime_flanking_region c.-7070 NULL 0.003 - - - no_errors RP11-116D17.2 Clone_based_vega_gene ENSG00000257519 tier3 832 0 0 1016 2 0.196463654223969 441 1 0.226244343891403 12 116094710 116094710 T G SNP ENSG00000257407 ENST00000551940 human ensembl 70_37 -1 known 5_prime_flanking_region c.-17171 NULL 0.000 - - - no_errors RP11-1028N23.4 Clone_based_vega_gene ENSG00000257407 tier4 1108 0 0 1487 3 0.201342281879195 423 0 0 12 116509991 116509991 A C SNP MED13L ENST00000281928 human ensembl 70_37 -1 known intronic c.479+24483 e4+24483 0.002 - - - no_errors MED13L HGNC ENSG00000123066 tier3 736 0 0 940 3 0.317796610169492 316 1 0.315457413249211 12 116654711 116654711 A C SNP MED13L ENST00000281928 human ensembl 70_37 -1 known intronic c.310+20562 e2+20562 0.002 - - - no_errors MED13L HGNC ENSG00000123066 tier3 987 0 0 1473 3 0.2031144211239 444 2 0.448430493273543 12 117758117 117758117 A G SNP NOS1 ENST00000317775 human ensembl 70_37 -1 known intronic c.726-8720 e2-8720 0.012 - - - no_errors NOS1 HGNC ENSG00000089250 tier4 940 0 0 1219 164 11.841155234657 542 0 0 12 117882519 117882519 G T SNP NOS1 ENST00000549189 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors NOS1 HGNC ENSG00000089250 tier4 1006 0 0 1251 4 0.318725099601594 619 0 0 12 119606191 119606191 G T SNP HSPB8 ENST00000281938 human ensembl 70_37 +1 known 5_prime_flanking_region c.-10927 NULL 0.002 - - - no_errors HSPB8 HGNC ENSG00000152137 tier3 1239 0 0 843 623 42.4965893587995 398 85 17.5983436853002 12 119915214 119915214 T C SNP CCDC60 ENST00000327554 human ensembl 70_37 +1 known intronic c.342-1685 e4-1685 0.001 - - - no_errors CCDC60 HGNC ENSG00000183273 tier3 1098 0 0 733 587 44.469696969697 457 110 19.4003527336861 12 120658549 120658549 T C SNP PXN ENST00000267257 human ensembl 70_37 -1 known intronic c.831+877 e6+877 0.000 - - - no_errors PXN HGNC ENSG00000089159 tier3 431 0 0 338 299 46.9387755102041 184 58 23.9669421487603 12 121527839 121527839 T G SNP P2RX7 ENST00000546057 human ensembl 70_37 +1 known 5_prime_flanking_region c.-42935 NULL 0.000 - - - no_errors P2RX7 HGNC ENSG00000089041 tier3 1067 1 0.0936329588014981 887 676 43.2501599488164 486 116 19.2691029900332 12 121528423 121528423 T G SNP P2RX7 ENST00000546057 human ensembl 70_37 +1 known 5_prime_flanking_region c.-42351 NULL 0.000 - - - no_errors P2RX7 HGNC ENSG00000089041 tier3 628 0 0 934 4 0.426439232409382 352 1 0.278551532033426 12 123875490 123875490 G T SNP SETD8 ENST00000462311 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*123875490 NULL 0.001 - - - no_coding_region SETD8 HGNC ENSG00000183955 tier3 567 0 0 873 3 0.342465753424658 314 1 0.317460317460317 12 125206612 125206612 C G SNP - - - - - - - - - - - - - - - - - - tier3 610 0 0 559 425 43.1472081218274 317 59 15.6914893617021 12 125668724 125668724 A C SNP TMEM132B ENST00000418253 human ensembl 70_37 +1 known 5_prime_flanking_region c.-2658 NULL 0.000 - - - no_errors TMEM132B HGNC ENSG00000139364 tier3 749 0 0 1076 2 0.185528756957328 389 0 0 12 126642088 126642088 T C SNP ENSG00000255778 ENST00000536505 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33836 NULL 0.001 - - - no_errors RP4-765H13.1 Clone_based_vega_gene ENSG00000255778 tier3 483 0 0 627 2 0.317965023847377 206 2 0.961538461538462 12 126946109 126946109 G C SNP ENSG00000214043 ENST00000397346 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP5-944M2.3 Clone_based_vega_gene ENSG00000214043 tier3 1001 0 0 1451 2 0.13745704467354 445 0 0 12 127493994 127493994 G A SNP ENSG00000249345 ENST00000512624 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-575F12.1 Clone_based_vega_gene ENSG00000249345 tier3 1070 2 0.186046511627907 1145 111 8.83757961783439 513 0 0 12 128010139 128010139 G A SNP - - - - - - - - - - - - - - - - - - tier3 683 0 0 878 37 4.04371584699454 376 0 0 12 128066038 128066038 C A SNP ENSG00000255945 ENST00000535247 human ensembl 70_37 +1 known 5_prime_flanking_region c.-16675 NULL 0.003 - - - no_errors RP11-351O2.1 Clone_based_vega_gene ENSG00000255945 tier4 2720 1 0.0367107195301028 3635 19 0.519551544982226 666 100 13.0548302872063 12 128182262 128182262 G A SNP - - - - - - - - - - - - - - - - - - tier3 1471 0 0 2051 26 1.2518054886856 533 113 17.4922600619195 12 130437055 130437055 G A SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known 5_prime_flanking_region c.-49171 NULL 0.000 - - - no_errors TMEM132D HGNC ENSG00000151952 tier4 526 0 0 340 329 49.1778774289985 294 49 14.1210374639769 12 132483441 132483441 G T SNP EP400 ENST00000333577 human ensembl 70_37 +1 known intronic c.2935+3940 e12+3940 0.228 - - - no_errors EP400 HGNC ENSG00000183495 tier4 463 0 0 647 4 0.614439324116743 249 2 0.796812749003984 12 132892565 132892565 T G SNP GALNT9 ENST00000328957 human ensembl 70_37 -1 known intronic c.238+12987 e1+12987 0.000 - - - no_errors GALNT9 HGNC ENSG00000182870 tier3 226 0 0 353 3 0.842696629213483 151 2 1.30718954248366 13 19180946 19180946 A G SNP ENSG00000230473 ENST00000456756 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.000 - - - no_errors RP11-484H12.1 Clone_based_vega_gene ENSG00000230473 tier4 70 0 0 102 3 2.85714285714286 26 0 0 13 19186863 19186863 T C SNP ENSG00000230473 ENST00000456756 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.021 - - - no_errors RP11-484H12.1 Clone_based_vega_gene ENSG00000230473 tier2 2086 0 0 2609 1 0.0382995021064726 777 10 1.26742712294043 13 19827606 19827606 T C SNP PSPC1P1 ENST00000442352 human ensembl 70_37 -1 known 5_prime_flanking_region c.-26034 NULL 0.197 - - - no_coding_region:pseudogene PSPC1P1 HGNC ENSG00000227879 tier4 636 0 0 689 102 12.8950695322377 403 0 0 13 21717846 21717846 T G SNP SAP18 ENST00000467636 human ensembl 70_37 +1 known intronic c.NULL NULL 0.006 - - - no_errors SAP18 HGNC ENSG00000150459 tier2 1088 0 0 1682 4 0.237247924080664 497 4 0.798403193612774 13 22949976 22949976 G A SNP - - - - - - - - - - - - - - - - - - tier2 1232 0 0 830 658 44.2204301075269 477 96 16.7539267015707 13 22956744 22956744 G C SNP - - - - - - - - - - - - - - - - - - tier4 314 0 0 377 52 12.093023255814 196 0 0 13 22967814 22967814 C A SNP - - - - - - - - - - - - - - - - - - tier2 747 0 0 548 481 46.7444120505345 252 55 17.9153094462541 13 24030664 24030664 T G SNP SACS ENST00000382292 human ensembl 70_37 -1 known 5_prime_flanking_region c.-45286 NULL 0.259 - - - no_errors SACS HGNC ENSG00000151835 tier2 709 0 0 980 2 0.203458799593082 376 2 0.529100529100529 13 24385699 24385699 A C SNP MIPEP ENST00000382172 human ensembl 70_37 -1 known intronic c.1654-1636 e15-1636 0.006 - - - no_errors MIPEP HGNC ENSG00000027001 tier4 799 0 0 1152 3 0.259291270527226 340 0 0 13 26097000 26097000 G A SNP ATP8A2 ENST00000381655 human ensembl 70_37 +1 known intronic c.222-7137 e3-7137 0.416 - - - no_errors ATP8A2 HGNC ENSG00000132932 tier4 1223 1 0.0815660685154976 913 805 46.8568102444703 400 99 19.6428571428571 13 27773881 27773881 T G SNP USP12 ENST00000282344 human ensembl 70_37 -1 known 5_prime_flanking_region c.-28105 NULL 0.001 - - - no_errors USP12 HGNC ENSG00000152484 tier2 493 0 0 662 2 0.301204819277108 234 1 0.425531914893617 13 28256904 28256904 C A SNP POLR1D ENST00000465887 human ensembl 70_37 +1 known 3_prime_flanking_region c.*15357 NULL 0.402 - - - no_errors POLR1D HGNC ENSG00000186184 tier4 690 0 0 963 1 0.103626943005181 348 5 1.41643059490085 13 28375115 28375115 G A SNP RNU6-73 ENST00000384600 human ensembl 70_37 +1 known 5_prime_flanking_region c.-27785 NULL 0.000 - - - no_errors RNU6-73 HGNC ENSG00000207330 tier2 888 0 0 1030 151 12.7857747671465 506 0 0 13 28428081 28428081 G A SNP PDX1-AS1 ENST00000499662 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors PDX1-AS1 HGNC ENSG00000247381 tier2 451 1 0.22075055187638 323 273 45.7286432160804 196 42 17.2131147540984 13 28592642 28592642 C G SNP FLT3 ENST00000380982 human ensembl 70_37 -1 known missense c.2503 p.D835H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FLT3 HGNC ENSG00000122025 tier1 765 1 0.130548302872063 793 287 26.5494912118409 421 0 0 13 28592642 28592642 C G SNP FLT3 ENST00000380982 human ensembl 70_37 -1 known missense c.2503 p.D835H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FLT3 HGNC ENSG00000122025 tier1 944 1 0.105820105820106 949 352 27.0353302611367 613 0 0 13 30247685 30247685 A G SNP - - - - - - - - - - - - - - - - - - tier4 379 0 0 263 271 50.749063670412 160 45 21.9512195121951 13 30468512 30468512 G C SNP UBL3 ENST00000380680 human ensembl 70_37 -1 known 5_prime_flanking_region c.-44837 NULL 0.000 - - - no_errors UBL3 HGNC ENSG00000122042 tier2 325 0 0 398 2 0.5 161 1 0.617283950617284 13 31140531 31140531 A C SNP HMGB1 ENST00000405805 human ensembl 70_37 -1 known intronic c.1+50277 e0+50277 0.000 - - - no_errors HMGB1 HGNC ENSG00000189403 tier4 658 0 0 1012 2 0.19723865877712 380 0 0 13 31931662 31931662 G C SNP B3GALTL ENST00000343307 human ensembl 70_37 +1 known 3_prime_flanking_region c.*27857 NULL 0.000 - - - no_errors B3GALTL HGNC ENSG00000187676 tier2 1139 0 0 1424 2 0.140154169586545 519 1 0.191570881226054 13 32356777 32356777 G A SNP RXFP2 ENST00000298386 human ensembl 70_37 +1 known intronic c.858-36 e11-36 0.000 - - - no_errors RXFP2 HGNC ENSG00000133105 tier2 745 0 0 619 565 47.7195945945946 327 62 15.9383033419023 13 33020250 33020250 A C SNP N4BP2L2 ENST00000399396 human ensembl 70_37 -1 known intronic c.411-1987 e6-1987 0.001 - - - no_errors N4BP2L2 HGNC ENSG00000244754 tier2 889 0 0 1326 5 0.375657400450789 423 3 0.704225352112676 13 36140815 36140815 A C SNP NBEA ENST00000310336 human ensembl 70_37 +1 known intronic c.6923-227 e45-227 0.000 - - - no_errors NBEA HGNC ENSG00000172915 tier4 829 0 0 1227 2 0.16273393002441 370 3 0.802139037433155 13 36515407 36515407 C T SNP DCLK1 ENST00000360631 human ensembl 70_37 -1 known intronic c.823+6088 e3+6088 0.000 - - - no_errors DCLK1 HGNC ENSG00000133083 tier2 1370 0 0 1080 773 41.6936353829558 474 93 16.4021164021164 13 36990845 36990845 G T SNP SPG20 ENST00000355182 human ensembl 70_37 -1 known 5_prime_flanking_region c.-80878 NULL 0.000 - - - no_errors SPG20 HGNC ENSG00000133104 tier2 1104 0 0 1435 5 0.347222222222222 515 0 0 13 37706657 37706657 T C SNP CSNK1A1L ENST00000379800 human ensembl 70_37 -1 known 5_prime_flanking_region c.-27264 NULL 0.008 - - - no_errors CSNK1A1L HGNC ENSG00000180138 tier4 841 0 0 1222 2 0.163398692810458 413 1 0.241545893719807 13 37775190 37775190 A T SNP RN7SKP1 ENST00000365525 human ensembl 70_37 -1 known 5_prime_flanking_region c.-34395 NULL 0.022 - - - no_errors RN7SKP1 HGNC ENSG00000202395 tier4 799 0 0 1034 3 0.289296046287367 441 0 0 13 38596373 38596373 T C SNP HSPD1P9 ENST00000420325 human ensembl 70_37 -1 known 5_prime_flanking_region c.-27516 NULL 0.005 - - - no_coding_region:pseudogene HSPD1P9 HGNC ENSG00000228036 tier4 445 0 0 688 3 0.433526011560694 205 1 0.485436893203883 13 39095873 39095873 T C SNP ENSG00000236354 ENST00000414161 human ensembl 70_37 -1 known 3_prime_flanking_region c.*11607 NULL 0.018 - - - no_errors RP11-349O10.1 Clone_based_vega_gene ENSG00000236354 tier2 874 0 0 751 336 30.9107635694572 468 0 0 13 39314143 39314143 G T SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known intronic c.5264-24298 e3-24298 0.000 - - - no_errors FREM2 HGNC ENSG00000150893 tier2 658 0 0 846 3 0.353356890459364 299 1 0.333333333333333 13 40252718 40252718 C T SNP COG6 ENST00000455146 human ensembl 70_37 +1 known intronic c.541-957 e6-957 0.000 - - - no_errors COG6 HGNC ENSG00000133103 tier3 1254 0 0 1773 5 0.280898876404494 706 4 0.558659217877095 13 40914185 40914185 T C SNP ENSG00000230058 ENST00000400432 human ensembl 70_37 -1 known 3_prime_flanking_region c.*3909 NULL 0.001 - - - no_errors RP11-172E9.2 Clone_based_vega_gene ENSG00000230058 tier4 759 0 0 1079 2 0.185013876040703 332 1 0.3003003003003 13 43789920 43789920 T C SNP ENOX1 ENST00000261488 human ensembl 70_37 -1 known intronic c.1801-1663 e14-1663 0.000 - - - no_errors ENOX1 HGNC ENSG00000120658 tier4 1110 0 0 1443 3 0.207325501036628 435 1 0.228310502283105 13 44770966 44770966 T G SNP SMIM2-AS1 ENST00000437867 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors SMIM2-AS1 HGNC ENSG00000227258 tier3 620 0 0 767 3 0.38961038961039 253 0 0 13 48113106 48113106 G A SNP - - - - - - - - - - - - - - - - - - tier4 586 0 0 764 2 0.260756192959583 332 0 0 13 49716453 49716453 C A SNP FNDC3A ENST00000492622 human ensembl 70_37 +1 known intronic c.820-3461 e7-3461 0.000 - - - no_errors FNDC3A HGNC ENSG00000102531 tier3 720 0 0 1021 2 0.195503421309873 379 0 0 13 51709992 51709992 C G SNP LINC00371 ENST00000433280 human ensembl 70_37 -1 known intronic c.NULL NULL 0.006 - - - no_errors LINC00371 HGNC ENSG00000226792 tier3 1077 0 0 655 569 46.4489795918367 413 117 21.9924812030075 13 52728928 52728928 T C SNP NEK3 ENST00000452082 human ensembl 70_37 -1 known intronic c.181-620 e2-620 0.015 - - - no_errors NEK3 HGNC ENSG00000136098 tier3 1004 0 0 1397 3 0.214285714285714 526 1 0.189035916824197 13 53786972 53786972 G T SNP ENSG00000241613 ENST00000477850 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-45240 NULL 0.011 - - - no_errors Metazoa_SRP RFAM ENSG00000241613 tier3 862 0 0 1064 2 0.187441424554827 361 60 14.2517814726841 13 53878584 53878584 A C SNP ENSG00000241613 ENST00000477850 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*46079 NULL 0.000 - - - no_errors Metazoa_SRP RFAM ENSG00000241613 tier3 1649 1 0.0605693519079346 2143 1 0.0465983224603914 571 52 8.32 13 53917798 53917798 T G SNP ENSG00000220990 ENST00000408063 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*24182 NULL 0.000 - - - no_errors AL450423.1 Clone_based_ensembl_gene ENSG00000220990 tier4 1193 0 0 1570 24 1.50470219435737 513 108 17.3913043478261 13 55955006 55955006 T C SNP - - - - - - - - - - - - - - - - - - tier3 1235 0 0 1361 186 12.0232708468003 652 0 0 13 57675598 57675598 T G SNP PRR20B ENST00000377930 human ensembl 70_37 +1 known 5_prime_flanking_region c.-46411 NULL 0.009 - - - no_errors PRR20B HGNC ENSG00000204918 tier4 1230 0 0 1118 622 35.7471264367816 582 0 0 13 57868221 57868221 C A SNP SLC25A5P4 ENST00000418448 human ensembl 70_37 +1 known 5_prime_flanking_region c.-20652 NULL 0.000 - - - no_coding_region:pseudogene SLC25A5P4 HGNC ENSG00000234421 tier3 1457 0 0 1761 4 0.226244343891403 607 0 0 13 58004400 58004400 A G SNP RPL31P53 ENST00000457065 human ensembl 70_37 -1 known 5_prime_flanking_region c.-38748 NULL 0.205 - - - no_coding_region:pseudogene RPL31P53 HGNC ENSG00000225352 tier4 1790 1 0.0557724484104852 2241 11 0.488454706927176 773 8 1.01910828025478 13 58209216 58209216 A C SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known missense c.2536 p.T846P 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 tier1 685 0 0 913 2 0.218579234972678 313 0 0 13 58329671 58329671 C A SNP PCDH17 ENST00000377918 human ensembl 70_37 +1 known 3_prime_flanking_region c.*30243 NULL 0.012 - - - no_errors PCDH17 HGNC ENSG00000118946 tier3 1178 2 0.169491525423729 1642 2 0.121654501216545 543 13 2.33812949640288 13 58616328 58616328 T G SNP - - - - - - - - - - - - - - - - - - tier3 1001 0 0 1406 3 0.21291696238467 515 3 0.579150579150579 13 59381136 59381136 A C SNP - - - - - - - - - - - - - - - - - - tier3 1293 1 0.0772200772200772 871 727 45.4659161976235 497 88 15.042735042735 13 59822085 59822085 C T SNP - - - - - - - - - - - - - - - - - - tier3 1353 0 0 982 722 42.3460410557185 513 105 16.9902912621359 13 60327694 60327694 T G SNP DIAPH3 ENST00000400324 human ensembl 70_37 -1 known intronic c.3319+20629 e27+20629 0.001 - - - no_errors DIAPH3 HGNC ENSG00000139734 tier3 603 0 0 797 4 0.499375780274657 283 5 1.73611111111111 13 60457273 60457273 A G SNP DIAPH3 ENST00000400324 human ensembl 70_37 -1 known intronic c.2368-3671 e21-3671 0.000 - - - no_errors DIAPH3 HGNC ENSG00000139734 tier3 521 0 0 713 2 0.27972027972028 266 0 0 13 60890272 60890272 A G SNP TARDBPP2 ENST00000448913 human ensembl 70_37 +1 known 3_prime_flanking_region c.*40132 NULL 0.059 - - - no_coding_region:pseudogene TARDBPP2 HGNC ENSG00000238213 tier4 2032 0 0 2776 5 0.179726815240834 595 0 0 13 61207578 61207578 G C SNP RNA5SP31 ENST00000411144 human ensembl 70_37 +1 known 3_prime_flanking_region c.*19710 NULL 0.070 - - - no_errors RNA5SP31 HGNC ENSG00000223076 tier4 1345 0 0 953 686 41.8547895057962 512 102 16.6123778501629 13 61447281 61447281 G T SNP ENSG00000227510 ENST00000414201 human ensembl 70_37 +1 putative 5_prime_flanking_region c.-43895 NULL 0.028 - - - no_errors RP11-196P2.1 Clone_based_vega_gene ENSG00000227510 tier4 1135 0 0 764 635 45.3895639742673 432 92 17.5572519083969 13 61991650 61991650 C G SNP PCDH20 ENST00000409186 human ensembl 70_37 -1 known intronic c.1-1633 e1-1633 0.000 - - - no_errors PCDH20 HGNC ENSG00000197991 tier3 901 0 0 1135 1 0.0880281690140845 434 62 12.5 13 62669049 62669049 G T SNP - - - - - - - - - - - - - - - - - - tier3 798 0 0 620 251 28.8174512055109 397 0 0 13 63029721 63029721 A C SNP - - - - - - - - - - - - - - - - - - tier4 785 0 0 1065 4 0.373482726423903 341 1 0.292397660818713 13 63091508 63091508 C A SNP - - - - - - - - - - - - - - - - - - tier3 1050 0 0 1339 5 0.371747211895911 407 1 0.245098039215686 13 63310444 63310444 A C SNP LINC00448 ENST00000438352 human ensembl 70_37 -1 known 5_prime_flanking_region c.-3952 NULL 0.001 - - - no_errors LINC00448 HGNC ENSG00000228669 tier3 726 0 0 963 2 0.207253886010363 327 0 0 13 64431021 64431021 A C SNP ENSG00000219926 ENST00000450029 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-25036 NULL 0.000 - - - no_errors RP11-394A14.2 Clone_based_vega_gene ENSG00000219926 tier4 807 0 0 989 4 0.40281973816717 318 0 0 13 64667178 64667178 G T SNP LINC00355 ENST00000456627 human ensembl 70_37 -1 known 5_prime_flanking_region c.-17034 NULL 0.000 - - - no_errors LINC00355 HGNC ENSG00000227674 tier3 2479 0 0 3369 3 0.0889679715302491 835 2 0.237812128418549 13 64747750 64747750 T G SNP - - - - - - - - - - - - - - - - - - tier4 1272 0 0 1829 3 0.163755458515284 542 4 0.732600732600733 13 65324630 65324630 A C SNP - - - - - - - - - - - - - - - - - - tier3 679 0 0 926 2 0.21551724137931 402 0 0 13 68223324 68223324 C T SNP - - - - - - - - - - - - - - - - - - tier4 1459 0 0 1972 2 0.101214574898785 587 0 0 13 69079300 69079300 T G SNP - - - - - - - - - - - - - - - - - - tier3 1349 0 0 1811 2 0.110314396028682 673 2 0.296296296296296 13 69314686 69314686 T C SNP ENSG00000243671 ENST00000463259 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-46473 NULL 0.000 - - - no_errors Metazoa_SRP RFAM ENSG00000243671 tier3 961 0 0 646 499 43.542757417103 408 82 16.6666666666667 13 69560004 69560004 G A SNP ZDHHC20P4 ENST00000411421 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*69560004 NULL 1.000 - - - no_coding_region:pseudogene ZDHHC20P4 HGNC ENSG00000232380 tier2 1295 0 0 1202 497 29.2525014714538 596 6 0.996677740863787 13 70252374 70252374 G C SNP KLHL1 ENST00000377844 human ensembl 70_37 -1 known 3_prime_flanking_region c.*23460 NULL 0.000 - - - no_errors KLHL1 HGNC ENSG00000150361 tier3 1327 0 0 874 689 44.0255591054313 510 79 13.2328308207705 13 71533423 71533423 A C SNP SOGA2P1 ENST00000446207 human ensembl 70_37 +1 known 3_prime_flanking_region c.*34836 NULL 0.998 - - - no_coding_region:pseudogene SOGA2P1 HGNC ENSG00000226554 tier2 1088 0 0 1449 2 0.137741046831956 488 0 0 13 72957006 72957006 A C SNP - - - - - - - - - - - - - - - - - - tier4 77 0 0 106 2 1.81818181818182 132 0 0 13 73281044 73281044 A C SNP BORA ENST00000390667 human ensembl 70_37 +1 known 5_prime_flanking_region c.-22035 NULL 0.006 - - - no_errors BORA HGNC ENSG00000136122 tier4 450 0 0 711 2 0.280504908835905 268 0 0 13 73921768 73921768 T G SNP - - - - - - - - - - - - - - - - - - tier3 1020 0 0 711 632 47.0588235294118 396 90 18.5185185185185 13 75008848 75008848 G T SNP LINC00381 ENST00000423629 human ensembl 70_37 +1 known intronic c.NULL NULL 0.003 - - - no_errors LINC00381 HGNC ENSG00000226240 tier3 1510 1 0.0661813368630046 1719 257 13.0060728744939 619 0 0 13 75131036 75131036 G T SNP LINC00347 ENST00000594461 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00347 HGNC ENSG00000236678 tier1 1012 0 0 779 375 32.4956672443674 461 0 0 13 76343336 76343336 A T SNP LMO7 ENST00000357063 human ensembl 70_37 +1 known intronic c.473+8162 e5+8162 0.013 - - - no_errors LMO7 HGNC ENSG00000136153 tier3 2060 0 0 2781 2 0.0718648939992814 827 0 0 13 77253006 77253006 A C SNP - - - - - - - - - - - - - - - - - - tier4 671 0 0 926 4 0.43010752688172 354 1 0.280898876404494 13 77290030 77290030 C T SNP - - - - - - - - - - - - - - - - - - tier3 640 0 0 920 4 0.431034482758621 287 0 0 13 77524667 77524667 G A SNP IRG1 ENST00000377462 human ensembl 70_37 +1 known intronic c.13-1957 e2-1957 0.392 - - - no_errors IRG1 HGNC ENSG00000102794 tier3 869 0 0 630 547 46.4740866610026 353 77 17.906976744186 13 79173211 79173211 A C SNP POU4F1-AS1 ENST00000444769 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors POU4F1-AS1 HGNC ENSG00000234377 tier3 1420 0 0 1925 4 0.207361327112494 608 0 0 13 80356003 80356003 C T SNP ENSG00000229011 ENST00000457858 human ensembl 70_37 +1 known 5_prime_flanking_region c.-22550 NULL 0.011 - - - no_errors RP11-276G3.1 Clone_based_vega_gene ENSG00000229011 tier3 2122 0 0 1573 971 38.1532416502947 694 117 14.4266337854501 13 80378712 80378712 T C SNP ENSG00000229011 ENST00000457858 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-276G3.1 Clone_based_vega_gene ENSG00000229011 tier3 594 0 0 807 2 0.247218788627936 258 0 0 13 80446549 80446549 A G SNP ENSG00000229175 ENST00000427918 human ensembl 70_37 +1 known 5_prime_flanking_region c.-172 NULL 0.001 - - - no_errors RP11-501G7.1 Clone_based_vega_gene ENSG00000229175 tier4 1062 0 0 697 614 46.7631378522468 497 106 17.5206611570248 13 81682323 81682323 T C SNP - - - - - - - - - - - - - - - - - - tier3 1069 0 0 1461 3 0.204918032786885 476 1 0.208768267223382 13 83490730 83490730 C G SNP - - - - - - - - - - - - - - - - - - tier4 724 1 0.137551581843191 509 408 44.3960826985854 306 81 20.9302325581395 13 85229430 85229430 A C SNP - - - - - - - - - - - - - - - - - - tier4 1271 0 0 1654 5 0.301386377335744 503 4 0.788954635108481 13 85313759 85313759 C A SNP - - - - - - - - - - - - - - - - - - tier4 511 0 0 691 2 0.288184438040346 345 4 1.14613180515759 13 86260837 86260837 T C SNP - - - - - - - - - - - - - - - - - - tier3 875 0 0 1212 2 0.164744645799012 365 0 0 13 86576950 86576950 C G SNP MOB1AP1 ENST00000430903 human ensembl 70_37 +1 known 3_prime_flanking_region c.*33282 NULL 0.002 - - - no_coding_region:pseudogene MOB1AP1 HGNC ENSG00000228241 tier4 514 0 0 734 3 0.407055630936228 267 0 0 13 87304165 87304165 T G SNP - - - - - - - - - - - - - - - - - - tier4 962 0 0 1295 3 0.231124807395994 418 1 0.238663484486874 13 87436210 87436210 G T SNP - - - - - - - - - - - - - - - - - - tier3 945 0 0 1263 5 0.394011032308905 357 1 0.279329608938547 13 87809691 87809691 C T SNP - - - - - - - - - - - - - - - - - - tier3 1128 0 0 1648 2 0.121138703815869 555 6 1.06571936056838 13 88187272 88187272 C A SNP MIR4500HG ENST00000436290 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors MIR4500HG HGNC ENSG00000228824 tier4 1643 0 0 2284 5 0.218245307725884 563 1 0.177304964539007 13 89702585 89702585 G T SNP - - - - - - - - - - - - - - - - - - tier3 1524 0 0 1987 2 0.100553041729512 765 2 0.260756192959583 13 90250496 90250496 G A SNP LINC00353 ENST00000434117 human ensembl 70_37 -1 known 5_prime_flanking_region c.-45853 NULL 0.013 - - - no_errors LINC00353 HGNC ENSG00000236176 tier4 1294 0 0 845 679 44.5538057742782 443 87 16.2313432835821 13 91376977 91376977 A C SNP - - - - - - - - - - - - - - - - - - tier4 249 0 0 300 2 0.657894736842105 148 3 1.98675496688742 13 92199203 92199203 G T SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known intronic c.325+98027 e2+98027 0.001 - - - no_errors GPC5 HGNC ENSG00000179399 tier4 1633 2 0.122249388753056 1461 586 28.5993167398731 677 0 0 13 92654333 92654333 G T SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known intronic c.1401+94022 e6+94022 0.000 - - - no_errors GPC5 HGNC ENSG00000179399 tier3 1234 0 0 1607 2 0.123915737298637 618 4 0.643086816720257 13 92871814 92871814 A C SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known intronic c.1561+74572 e7+74572 0.005 - - - no_errors GPC5 HGNC ENSG00000179399 tier4 955 0 0 1229 3 0.243111831442464 561 0 0 13 93214043 93214043 A G SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known intronic c.1562-304492 e8-304492 0.000 - - - no_errors GPC5 HGNC ENSG00000179399 tier3 1015 0 0 1326 2 0.150489089541008 508 0 0 13 93599999 93599999 T C SNP - - - - - - - - - - - - - - - - - - tier3 763 0 0 612 304 33.1877729257642 385 0 0 13 93668025 93668025 G A SNP ENSG00000232849 ENST00000443228 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40885 NULL 0.002 - - - no_errors RP11-632L2.1 Clone_based_vega_gene ENSG00000232849 tier4 1389 0 0 1950 1 0.0511770726714432 582 72 11.0091743119266 13 93824695 93824695 C T SNP - - - - - - - - - - - - - - - - - - tier4 921 0 0 655 481 42.2671353251318 346 65 15.7384987893462 13 94883618 94883618 T G SNP GPC6 ENST00000377047 human ensembl 70_37 +1 known intronic c.878-54985 e5-54985 0.001 - - - no_errors GPC6 HGNC ENSG00000183098 tier3 1442 0 0 2009 3 0.149105367793241 647 0 0 13 95956552 95956552 T A SNP ABCC4 ENST00000376887 human ensembl 70_37 -1 known 5_prime_flanking_region c.-2984 NULL 0.000 - - - no_errors ABCC4 HGNC ENSG00000125257 tier4 955 0 0 848 808 48.792270531401 361 70 16.2412993039443 13 96182041 96182041 C T SNP CLDN10 ENST00000376873 human ensembl 70_37 +1 known intronic c.215-30345 e2-30345 0.060 - - - no_errors CLDN10 HGNC ENSG00000134873 tier3 1549 0 0 2436 3 0.122950819672131 775 0 0 13 97304263 97304263 T C SNP HS6ST3 ENST00000376705 human ensembl 70_37 +1 known intronic c.708-180481 e2-180481 0.000 - - - no_errors HS6ST3 HGNC ENSG00000185352 tier3 1477 0 0 1662 235 12.3879810226674 606 0 0 13 97352700 97352700 C G SNP HS6ST3 ENST00000376705 human ensembl 70_37 +1 known intronic c.708-132044 e2-132044 0.006 - - - no_errors HS6ST3 HGNC ENSG00000185352 tier4 473 0 0 321 292 47.557003257329 221 47 17.1532846715328 13 97891520 97891520 A C SNP MBNL2 ENST00000376673 human ensembl 70_37 +1 known intronic c.1+16735 e0+16735 0.001 - - - no_errors MBNL2 HGNC ENSG00000139793 tier3 971 0 0 1289 3 0.232198142414861 466 0 0 13 98853108 98853108 T G SNP FARP1 ENST00000376586 human ensembl 70_37 +1 known intronic c.1-12366 e1-12366 0.000 - - - no_errors FARP1 HGNC ENSG00000152767 tier3 1590 0 0 2315 2 0.0863185153215365 621 0 0 13 100785843 100785843 G T SNP PCCA ENST00000376285 human ensembl 70_37 +1 known intronic c.301-21390 e5-21390 0.060 - - - no_errors PCCA HGNC ENSG00000175198 tier4 986 0 0 1414 2 0.141143260409315 575 2 0.345423143350604 13 101985502 101985502 G C SNP NALCN ENST00000251127 human ensembl 70_37 -1 known intronic c.799+12115 e6+12115 0.000 - - - no_errors NALCN HGNC ENSG00000102452 tier3 665 1 0.149925037481259 440 416 48.4848484848485 324 59 15.4046997389034 13 102075646 102075646 T G SNP NALCN ENST00000251127 human ensembl 70_37 -1 known 5_prime_flanking_region c.-24169 NULL 0.001 - - - no_errors NALCN HGNC ENSG00000102452 tier4 322 0 0 455 2 0.437636761487965 212 1 0.469483568075117 13 102156678 102156678 G A SNP ITGBL1 ENST00000376180 human ensembl 70_37 +1 known intronic c.316+50227 e2+50227 0.001 - - - no_errors ITGBL1 HGNC ENSG00000198542 tier3 834 0 0 1090 2 0.182982616651418 392 0 0 13 102287556 102287556 A G SNP ITGBL1 ENST00000376180 human ensembl 70_37 +1 known intronic c.1015+36907 e7+36907 0.023 - - - no_errors ITGBL1 HGNC ENSG00000198542 tier3 1072 0 0 678 609 47.2459270752521 462 80 14.760147601476 13 102671175 102671175 A T SNP FGF14 ENST00000376131 human ensembl 70_37 -1 known intronic c.209-143529 e2-143529 0.000 - - - no_errors FGF14 HGNC ENSG00000102466 tier3 1102 0 0 1398 4 0.285306704707561 580 2 0.343642611683849 13 105595823 105595823 T G SNP - - - - - - - - - - - - - - - - - - tier3 1544 0 0 1817 2 0.10989010989011 621 3 0.480769230769231 13 106078738 106078738 A G SNP DAOA ENST00000375936 human ensembl 70_37 +1 known 5_prime_flanking_region c.-39900 NULL 0.004 - - - no_errors DAOA HGNC ENSG00000182346 tier3 1463 0 0 1779 29 1.60398230088496 484 101 17.2649572649573 13 107097368 107097368 A C SNP EFNB2 ENST00000245323 human ensembl 70_37 -1 known 3_prime_flanking_region c.*48020 NULL 0.000 - - - no_errors EFNB2 HGNC ENSG00000125266 tier3 1027 0 0 1431 4 0.278551532033426 421 3 0.707547169811321 13 108776942 108776942 A C SNP - - - - - - - - - - - - - - - - - - tier4 667 0 0 790 2 0.252525252525253 275 0 0 13 109103464 109103464 A C SNP HCFC2P1 ENST00000392864 human ensembl 70_37 +1 known 5_prime_flanking_region c.-29110 NULL 0.000 - - - no_coding_region:pseudogene HCFC2P1 HGNC ENSG00000232087 tier3 563 0 0 815 2 0.244798041615667 261 1 0.381679389312977 13 109428337 109428337 T G SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known intronic c.442-9646 e4-9646 0.000 - - - no_errors MYO16 HGNC ENSG00000041515 tier3 1014 0 0 1366 2 0.146198830409357 459 0 0 13 109470008 109470008 T G SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known intronic c.802-2677 e7-2677 0.006 - - - no_errors MYO16 HGNC ENSG00000041515 tier4 1327 0 0 1184 532 31.002331002331 706 0 0 13 109844202 109844202 T C SNP MYO16 ENST00000356711 human ensembl 70_37 +1 known intronic c.5349+12221 e33+12221 0.000 - - - no_errors MYO16 HGNC ENSG00000041515 tier3 1979 0 0 2730 3 0.109769484083425 880 0 0 13 110222811 110222811 T G SNP - - - - - - - - - - - - - - - - - - tier4 685 0 0 916 3 0.326441784548422 323 0 0 13 110521898 110521898 G A SNP RN7SKP10 ENST00000364291 human ensembl 70_37 +1 known 5_prime_flanking_region c.-45545 NULL 0.013 - - - no_errors RN7SKP10 HGNC ENSG00000201161 tier3 226 0 0 291 4 1.35593220338983 122 2 1.61290322580645 13 110532619 110532619 T G SNP RN7SKP10 ENST00000364291 human ensembl 70_37 +1 known 5_prime_flanking_region c.-34824 NULL 0.000 - - - no_errors RN7SKP10 HGNC ENSG00000201161 tier4 471 0 0 653 1 0.152905198776758 203 3 1.45631067961165 13 111146580 111146580 C G SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known intronic c.3634+951 e38+951 0.000 - - - no_errors COL4A2 HGNC ENSG00000134871 tier3 722 1 0.138312586445367 538 415 43.5466946484785 326 59 15.3246753246753 13 111472437 111472437 A T SNP ENSG00000259831 ENST00000569854 human ensembl 70_37 -1 known 5_prime_flanking_region c.-7006 NULL 0.007 - - - no_errors RP11-120J20.4 Clone_based_vega_gene ENSG00000259831 tier3 714 0 0 951 2 0.209863588667366 394 0 0 13 112696808 112696808 T G SNP SOX1 ENST00000330949 human ensembl 70_37 +1 known 5_prime_flanking_region c.-25165 NULL 0.000 - - - no_errors SOX1 HGNC ENSG00000182968 tier3 1450 0 0 1857 6 0.322061191626409 589 0 0 14 19004187 19004187 A G SNP - - - - - - - - - - - - - - - - - - tier4 2312 0 0 3501 2 0.0570939194975735 1202 0 0 14 19008274 19008274 T C SNP - - - - - - - - - - - - - - - - - - tier4 842 0 0 1250 2 0.159744408945687 513 2 0.388349514563107 14 19013370 19013370 C A SNP - - - - - - - - - - - - - - - - - - tier4 309 0 0 379 2 0.5249343832021 71 0 0 14 19400628 19400628 T G SNP ARHGAP42P5 ENST00000548856 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-19400628 NULL 0.998 - - - no_coding_region:pseudogene ARHGAP42P5 HGNC ENSG00000258233 tier2 1141 0 0 1476 1 0.06765899864682 663 8 1.1887072808321 14 19940477 19940477 T G SNP ENSG00000257931 ENST00000547399 human ensembl 70_37 -1 known intronic c.NULL NULL 0.141 - - - no_errors CTD-2311B13.7 Clone_based_vega_gene ENSG00000257931 tier4 1982 0 0 2493 2 0.0801603206412826 1260 0 0 14 22145985 22145985 T A SNP OR10G2 ENST00000542433 human ensembl 70_37 -1 known 5_prime_flanking_region c.-42987 NULL 0.179 - - - no_errors OR10G2 HGNC ENSG00000255582 tier4 628 0 0 896 29 3.13513513513514 380 0 0 14 24193021 24193021 C T SNP BRD7P1 ENST00000557705 human ensembl 70_37 +1 known 5_prime_flanking_region c.-25424 NULL 0.003 - - - no_coding_region:pseudogene BRD7P1 HGNC ENSG00000259043 tier2 1180 2 0.169204737732657 851 712 45.5534229046705 450 88 16.2962962962963 14 24568611 24568611 T C SNP PCK2 ENST00000216780 human ensembl 70_37 +1 known intronic c.853-156 e6-156 0.000 - - - no_errors PCK2 HGNC ENSG00000100889 tier2 444 0 0 719 2 0.277008310249307 227 0 0 14 25847400 25847400 G A SNP OR7K1P ENST00000546439 human ensembl 70_37 +1 known 3_prime_flanking_region c.*19505 NULL 0.000 - - - no_coding_region:pseudogene OR7K1P HGNC ENSG00000258275 tier2 1429 0 0 999 673 40.2511961722488 525 105 16.6666666666667 14 26177641 26177641 T C SNP - - - - - - - - - - - - - - - - - - tier4 991 0 0 1202 3 0.24896265560166 486 0 0 14 29447974 29447974 C T SNP ENSG00000258028 ENST00000551227 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-148E17.1 Clone_based_vega_gene ENSG00000258028 tier4 1278 4 0.311769290724864 969 646 39.9505256648114 503 82 13.8747884940778 14 29685238 29685238 G T SNP ENSG00000257522 ENST00000550975 human ensembl 70_37 -1 known 3_prime_flanking_region c.*48812 NULL 1.000 - - - no_errors RP11-562L8.1 Clone_based_vega_gene ENSG00000257522 tier2 907 1 0.11001100110011 653 503 43.5121107266436 421 97 18.7258687258687 14 29776785 29776785 A C SNP ENSG00000257522 ENST00000548306 human ensembl 70_37 -1 known intronic c.NULL NULL 0.003 - - - no_errors RP11-562L8.1 Clone_based_vega_gene ENSG00000257522 tier4 852 0 0 1178 4 0.338409475465313 429 1 0.232558139534884 14 29824947 29824947 A G SNP ENSG00000257522 ENST00000548306 human ensembl 70_37 -1 known intronic c.NULL NULL 0.998 - - - no_errors RP11-562L8.1 Clone_based_vega_gene ENSG00000257522 tier2 1505 0 0 2012 1 0.0496770988574267 569 5 0.871080139372822 14 30140381 30140381 C A SNP PRKD1 ENST00000331968 human ensembl 70_37 -1 known intronic c.404-4967 e3-4967 0.001 - - - no_errors PRKD1 HGNC ENSG00000184304 tier4 1507 0 0 1862 2 0.107296137339056 718 4 0.552486187845304 14 32171061 32171061 C T SNP NUBPL ENST00000281081 human ensembl 70_37 +1 known intronic c.513+28281 e6+28281 0.017 - - - no_errors NUBPL HGNC ENSG00000151413 tier2 1056 0 0 755 468 38.2665576451349 497 85 14.6048109965636 14 32236833 32236833 G T SNP NUBPL ENST00000281081 human ensembl 70_37 +1 known intronic c.514-20153 e7-20153 0.154 - - - no_errors NUBPL HGNC ENSG00000151413 tier4 1040 0 0 1298 1 0.0769230769230769 577 8 1.36286201022147 14 32713922 32713922 T G SNP RNU6-41 ENST00000365467 human ensembl 70_37 -1 known 5_prime_flanking_region c.-41447 NULL 0.480 - - - no_errors RNU6-41 HGNC ENSG00000202337 tier4 1007 0 0 1271 4 0.313725490196078 440 1 0.226757369614512 14 34854089 34854089 T C SNP EGLN3 ENST00000551935 human ensembl 70_37 -1 known intronic c.NULL NULL 0.002 - - - no_errors EGLN3 HGNC ENSG00000129521 tier2 446 0 0 342 265 43.6573311367381 235 49 17.2535211267606 14 37355569 37355569 G A SNP SLC25A21 ENST00000331299 human ensembl 70_37 -1 known intronic c.71-11360 e2-11360 0.001 - - - no_errors SLC25A21 HGNC ENSG00000183032 tier2 1364 2 0.146412884333821 1141 481 29.6547472256473 609 4 0.65252854812398 14 39524085 39524085 T C SNP SEC23A ENST00000307712 human ensembl 70_37 -1 known intronic c.1659+262 e13+262 0.000 - - - no_errors SEC23A HGNC ENSG00000100934 tier4 985 0 0 1493 4 0.267201068804275 507 0 0 14 40331625 40331625 A C SNP - - - - - - - - - - - - - - - - - - tier4 873 0 0 1071 2 0.185873605947955 371 2 0.536193029490617 14 41035382 41035382 A T SNP - - - - - - - - - - - - - - - - - - tier4 646 0 0 811 2 0.2460024600246 389 6 1.51898734177215 14 41828918 41828918 A C SNP ENSG00000221695 ENST00000408768 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*10348 NULL 0.000 - - - no_errors AL390335.1 Clone_based_ensembl_gene ENSG00000221695 tier2 563 0 0 687 5 0.722543352601156 303 0 0 14 43215721 43215721 T G SNP ENSG00000258394 ENST00000557251 human ensembl 70_37 +1 known 3_prime_flanking_region c.*42863 NULL 0.822 - - - no_errors CTD-2307P3.1 Clone_based_vega_gene ENSG00000258394 tier2 1254 0 0 1692 4 0.235710076605775 521 0 0 14 43693753 43693753 A T SNP - - - - - - - - - - - - - - - - - - tier2 1494 0 0 1932 2 0.103359173126615 602 2 0.33003300330033 14 43743205 43743205 T G SNP ENSG00000258406 ENST00000554689 human ensembl 70_37 +1 known 5_prime_flanking_region c.-822 NULL 0.000 - - - no_coding_region:pseudogene RP11-88E18.1 Clone_based_vega_gene ENSG00000258406 tier2 934 0 0 1080 4 0.3690036900369 381 0 0 14 44066043 44066043 T G SNP ENSG00000258387 ENST00000554342 human ensembl 70_37 -1 known 5_prime_flanking_region c.-4578 NULL 0.002 - - - no_coding_region:pseudogene RP11-557C9.3 Clone_based_vega_gene ENSG00000258387 tier3 1118 0 0 1434 3 0.208623087621697 514 0 0 14 45557164 45557164 G A SNP PRPF39 ENST00000355765 human ensembl 70_37 +1 known intronic c.1+3712 e0+3712 0.007 - - - no_errors PRPF39 HGNC ENSG00000185246 tier3 1527 0 0 1882 266 12.3836126629423 644 0 0 14 45742631 45742631 C T SNP MIS18BP1 ENST00000310806 human ensembl 70_37 -1 known 5_prime_flanking_region c.-26142 NULL 0.944 - - - no_errors MIS18BP1 HGNC ENSG00000129534 tier4 943 0 0 1436 23 1.57642220699109 567 0 0 14 46677235 46677235 A G SNP LOC100506412 ENST00000555246 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors RP11-1A16.1 Clone_based_vega_gene ENSG00000258700 tier4 1132 0 0 1554 2 0.12853470437018 531 0 0 14 47311961 47311961 A G SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known intronic c.2990-739 e17-739 0.000 - - - no_errors MDGA2 HGNC ENSG00000139915 tier3 1025 0 0 1458 2 0.136892539356605 450 0 0 14 48448335 48448335 G C SNP - - - - - - - - - - - - - - - - - - tier3 1303 0 0 1083 437 28.75 694 0 0 14 48771205 48771205 G T SNP ENSG00000207366 ENST00000384636 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*39224 NULL 0.000 - - - no_errors U6 RFAM ENSG00000207366 tier3 1342 0 0 1909 2 0.10465724751439 634 6 0.9375 14 48891700 48891700 T C SNP ENSG00000258751 ENST00000555693 human ensembl 70_37 -1 known intronic c.NULL NULL 0.092 - - - no_errors RP11-2G1.1 Clone_based_vega_gene ENSG00000258751 tier3 1204 0 0 1613 21 1.28518971848225 430 107 19.9255121042831 14 49781804 49781804 A G SNP - - - - - - - - - - - - - - - - - - tier3 1379 0 0 963 791 45.096921322691 501 118 19.0630048465267 14 50556831 50556831 T G SNP C14orf183 ENST00000305273 human ensembl 70_37 -1 novel intronic c.373-918 e3-918 0.002 - - - no_errors C14orf183 HGNC ENSG00000168260 tier4 1302 0 0 2055 2 0.0972289742343218 618 0 0 14 51380815 51380815 T C SNP PYGL ENST00000216392 human ensembl 70_37 -1 known intronic c.1518+604 e12+604 0.001 - - - no_errors PYGL HGNC ENSG00000100504 tier3 1303 0 0 1080 778 41.8729817007535 471 116 19.7614991482112 14 51579590 51579590 C A SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known 5_prime_flanking_region c.-17933 NULL 0.012 - - - no_errors TRIM9 HGNC ENSG00000100505 tier3 618 0 0 858 2 0.231749710312862 263 2 0.754716981132075 14 52273988 52273988 A G SNP ENSG00000258535 ENST00000553312 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-280K24.4 Clone_based_vega_gene ENSG00000258535 tier3 792 0 0 1096 2 0.182149362477231 376 1 0.26525198938992 14 54021113 54021113 A G SNP ENSG00000237356 ENST00000456100 human ensembl 70_37 +1 known intronic c.NULL NULL 0.029 - - - no_errors AL163953.3 Clone_based_vega_gene ENSG00000237356 tier3 953 0 0 1287 3 0.232558139534884 369 3 0.806451612903226 14 54682900 54682900 T G SNP - - - - - - - - - - - - - - - - - - tier4 1022 0 0 1377 4 0.289645184648805 450 1 0.221729490022173 14 55122608 55122608 T G SNP SAMD4A ENST00000392067 human ensembl 70_37 +1 known intronic c.197-46172 e2-46172 0.107 - - - no_errors SAMD4A HGNC ENSG00000020577 tier4 1790 0 0 2727 2 0.0732869182850861 804 0 0 14 55333565 55333565 T G SNP GCH1 ENST00000395514 human ensembl 70_37 -1 known intronic c.344-1411 e2-1411 0.001 - - - no_errors GCH1 HGNC ENSG00000131979 tier3 850 0 0 1272 3 0.235294117647059 404 0 0 14 56763165 56763165 A G SNP PELI2 ENST00000267460 human ensembl 70_37 +1 known intronic c.697-153 e6-153 0.002 - - - no_errors PELI2 HGNC ENSG00000139946 tier4 679 0 0 887 3 0.337078651685393 286 2 0.694444444444444 14 56866826 56866826 G A SNP - - - - - - - - - - - - - - - - - - tier4 1246 0 0 888 731 45.1234567901235 505 88 14.7651006711409 14 57168342 57168342 C A SNP ENSG00000259133 ENST00000554597 human ensembl 70_37 -1 putative intronic c.123+24266 e2+24266 0.000 - - - no_errors RP11-1085N6.3 Clone_based_vega_gene ENSG00000259133 tier4 867 0 0 1086 2 0.183823529411765 399 5 1.22549019607843 14 57414742 57414742 T G SNP OTX2-AS1 ENST00000554725 human ensembl 70_37 +1 known intronic c.NULL NULL 0.008 - - - no_errors OTX2-AS1 HGNC ENSG00000248550 tier4 839 0 0 1173 2 0.170212765957447 355 0 0 14 57619930 57619930 C A SNP ENSG00000258592 ENST00000551408 human ensembl 70_37 -1 known 5_prime_flanking_region c.-40552 NULL 0.021 - - - no_errors RP11-108M12.3 Clone_based_vega_gene ENSG00000258592 tier4 2221 2 0.0899685110211426 1748 1269 42.0477137176938 833 178 17.5715695952616 14 58559300 58559300 T G SNP C14orf37 ENST00000267485 human ensembl 70_37 -1 known intronic c.2089+4142 e4+4142 0.001 - - - no_errors C14orf37 HGNC ENSG00000139971 tier4 442 0 0 650 2 0.306748466257669 312 3 0.952380952380952 14 59270995 59270995 T C SNP ENSG00000258583 ENST00000553762 human ensembl 70_37 +1 known 5_prime_flanking_region c.-23957 NULL 0.000 - - - no_errors RP11-112J1.2 Clone_based_vega_gene ENSG00000258583 tier3 571 0 0 813 4 0.488997555012225 283 1 0.352112676056338 14 59842637 59842637 T A SNP ENSG00000252869 ENST00000517060 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-24104 NULL 0.000 - - - no_errors AL159140.1 Clone_based_ensembl_gene ENSG00000252869 tier4 838 0 0 1164 2 0.171526586620926 415 1 0.239808153477218 14 60214552 60214552 C A SNP RTN1 ENST00000267484 human ensembl 70_37 -1 known intronic c.242-1353 e2-1353 0.029 - - - no_errors RTN1 HGNC ENSG00000139970 tier4 1227 0 0 1473 7 0.472972972972973 525 0 0 14 61959253 61959253 G A SNP PRKCH ENST00000332981 human ensembl 70_37 +1 known intronic c.1433+6879 e10+6879 0.094 - - - no_errors PRKCH HGNC ENSG00000027075 tier3 775 0 0 1117 2 0.178571428571429 416 0 0 14 62468151 62468151 G T SNP SYT16 ENST00000446982 human ensembl 70_37 +1 known intronic c.523+4891 e1+4891 0.000 - - - no_errors SYT16 HGNC ENSG00000139973 tier4 1036 0 0 1412 3 0.211864406779661 454 0 0 14 62812996 62812996 C G SNP - - - - - - - - - - - - - - - - - - tier3 1263 0 0 1659 2 0.120409391932571 473 0 0 14 62950093 62950093 G A SNP ENSG00000258638 ENST00000554127 human ensembl 70_37 -1 known 3_prime_flanking_region c.*31497 NULL 0.000 - - - no_coding_region:pseudogene RP11-395B20.2 Clone_based_vega_gene ENSG00000258638 tier3 711 1 0.140252454417952 610 253 29.3163383545771 461 0 0 14 63224519 63224519 A G SNP KCNH5 ENST00000322893 human ensembl 70_37 -1 known intronic c.2019+21927 e10+21927 0.212 - - - no_errors KCNH5 HGNC ENSG00000140015 tier4 1446 0 0 1936 2 0.103092783505155 663 2 0.299850074962519 14 63571563 63571563 G T SNP KCNH5 ENST00000394968 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-87992 NULL 0.000 - - - no_errors KCNH5 HGNC ENSG00000140015 tier4 1123 1 0.0889679715302491 650 563 46.4138499587799 371 69 15.6818181818182 14 64233827 64233827 A T SNP SGPP1 ENST00000247225 human ensembl 70_37 -1 known 5_prime_flanking_region c.-39165 NULL 0.000 - - - no_errors SGPP1 HGNC ENSG00000126821 tier4 726 0 0 1143 5 0.435161009573542 379 6 1.55844155844156 14 65153966 65153966 C A SNP PLEKHG3 ENST00000394691 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40384 NULL 0.002 - - - no_errors PLEKHG3 HGNC ENSG00000126822 tier4 1161 0 0 1787 6 0.334075723830735 433 4 0.91533180778032 14 66837117 66837117 T G SNP ENSG00000258561 ENST00000556361 human ensembl 70_37 -1 known intronic c.NULL NULL 0.037 - - - no_errors RP11-72M17.1 Clone_based_vega_gene ENSG00000258561 tier4 476 0 0 593 2 0.336134453781513 277 1 0.355871886120996 14 67030470 67030470 T G SNP GPHN ENST00000478722 human ensembl 70_37 +1 known intronic c.64+55161 e1+55161 0.001 - - - no_errors GPHN HGNC ENSG00000171723 tier4 1042 0 0 1449 2 0.137835975189524 456 0 0 14 68456999 68456999 A C SNP RAD51B ENST00000487270 human ensembl 70_37 +1 known intronic c.756+103078 e6+103078 0.015 - - - no_errors RAD51B HGNC ENSG00000182185 tier4 1113 0 0 1549 2 0.128865979381443 520 0 0 14 69242914 69242914 T C SNP ENSG00000207089 ENST00000384361 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-40169 NULL 0.069 - - - no_errors U6 RFAM ENSG00000207089 tier3 842 1 0.118623962040332 664 577 46.4573268921095 391 56 12.5279642058166 14 70036001 70036001 G A SNP KIAA0247 ENST00000342745 human ensembl 70_37 +1 known 5_prime_flanking_region c.-89309 NULL 0.407 - - - no_errors KIAA0247 HGNC ENSG00000100647 tier4 1033 0 0 831 630 43.0916552667579 481 113 19.023569023569 14 70803055 70803055 A G SNP COX16 ENST00000389912 human ensembl 70_37 -1 known intronic c.141+6320 e2+6320 0.043 - - - no_errors COX16 HGNC ENSG00000133983 tier4 1205 0 0 1534 5 0.324675324675325 584 4 0.680272108843537 14 71670841 71670841 G C SNP ENSG00000257692 ENST00000549386 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors RP1-292L20.1 Clone_based_vega_gene ENSG00000257692 tier3 925 0 0 1341 3 0.222882615156018 462 2 0.431034482758621 14 71798668 71798668 C G SNP SIPA1L1 ENST00000553453 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors SIPA1L1 HGNC ENSG00000197555 tier3 1352 0 0 2041 2 0.0978473581213307 611 2 0.32520325203252 14 72100766 72100766 C A SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known intronic c.1818+9813 e3+9813 0.516 - - - no_errors SIPA1L1 HGNC ENSG00000197555 tier4 960 0 0 1361 3 0.219941348973607 434 0 0 14 72867908 72867908 C A SNP RGS6 ENST00000553525 human ensembl 70_37 +1 known intronic c.184+49006 e2+49006 0.806 - - - no_errors RGS6 HGNC ENSG00000182732 tier3 1050 0 0 1500 5 0.332225913621262 458 4 0.865800865800866 14 73014397 73014397 T G SNP RGS6 ENST00000553525 human ensembl 70_37 +1 known intronic c.1422+7595 e16+7595 0.001 - - - no_errors RGS6 HGNC ENSG00000182732 tier3 524 0 0 658 3 0.453857791225416 247 0 0 14 73225651 73225651 G A SNP DPF3 ENST00000366353 human ensembl 70_37 -1 known intronic c.359-5572 e3-5572 0.993 - - - no_errors DPF3 HGNC ENSG00000205683 tier4 1311 0 0 1093 825 42.96875 535 112 17.3106646058733 14 74768892 74768892 G T SNP ABCD4 ENST00000356924 human ensembl 70_37 -1 known intronic c.38+686 e1+686 0.058 - - - no_errors ABCD4 HGNC ENSG00000119688 tier4 719 0 0 1072 3 0.27906976744186 344 5 1.43266475644699 14 75549421 75549421 A C SNP NEK9 ENST00000555405 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-75549421 NULL 0.001 - - - no_coding_region NEK9 HGNC ENSG00000119638 tier3 410 0 0 630 2 0.316455696202532 266 0 0 14 77231914 77231914 G A SNP VASH1 ENST00000167106 human ensembl 70_37 +1 known intronic c.309+2441 e1+2441 0.000 - - - no_errors VASH1 HGNC ENSG00000071246 tier3 341 0 0 236 174 42.3357664233577 183 13 6.56565656565657 14 79420810 79420810 T A SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known intronic c.2243-2775 e9-2775 0.002 - - - no_errors NRXN3 HGNC ENSG00000021645 tier3 1125 0 0 799 728 47.6439790575916 438 114 20.5776173285199 14 79444185 79444185 G T SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known intronic c.3109+9496 e12+9496 0.006 - - - no_errors NRXN3 HGNC ENSG00000021645 tier4 1594 0 0 2084 5 0.239348970799426 608 2 0.325732899022801 14 79650343 79650343 G C SNP NRXN3 ENST00000554738 human ensembl 70_37 +1 known intronic c.3229+195859 e13+195859 0.000 - - - no_errors NRXN3 HGNC ENSG00000021645 tier3 690 0 0 931 2 0.214362272240086 346 0 0 14 80440160 80440160 T G SNP ENSG00000258416 ENST00000554307 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-526N18.1 Clone_based_vega_gene ENSG00000258416 tier4 1433 0 0 1909 4 0.209095661265029 651 5 0.762195121951219 14 81209424 81209424 T C SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known missense c.2801 p.K934R 1.000 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 tier1 739 0 0 511 376 42.3900789177001 371 60 13.9211136890951 14 81209424 81209424 T C SNP CEP128 ENST00000281129 human ensembl 70_37 -1 known missense c.2801 p.K934R 1.000 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 tier1 984 2 0.202839756592292 633 468 42.5068119891008 567 105 15.625 14 82052044 82052044 A C SNP ENSG00000258977 ENST00000554211 human ensembl 70_37 -1 known 3_prime_flanking_region c.*19647 NULL 0.005 - - - no_errors RP11-799P8.1 Clone_based_vega_gene ENSG00000258977 tier4 623 0 0 697 3 0.428571428571429 240 2 0.826446280991736 14 82544804 82544804 T G SNP ENSG00000259035 ENST00000554814 human ensembl 70_37 +1 known 3_prime_flanking_region c.*48111 NULL 0.000 - - - no_errors RP11-666E17.1 Clone_based_vega_gene ENSG00000259035 tier4 556 0 0 736 2 0.2710027100271 287 5 1.71232876712329 14 83538891 83538891 G A SNP ENSG00000258426 ENST00000557709 human ensembl 70_37 -1 known 5_prime_flanking_region c.-32945 NULL 0.001 - - - no_errors RP11-452D21.1 Clone_based_vega_gene ENSG00000258426 tier3 711 1 0.140056022408964 830 21 2.46189917936694 324 46 12.4324324324324 14 84822990 84822990 G A SNP - - - - - - - - - - - - - - - - - - tier4 1507 0 0 1847 32 1.70303352847259 694 0 0 14 85081508 85081508 C T SNP - - - - - - - - - - - - - - - - - - tier3 872 0 0 607 433 41.6346153846154 347 90 20.5949656750572 14 85752128 85752128 G A SNP ENSG00000259044 ENST00000556016 human ensembl 70_37 -1 known 5_prime_flanking_region c.-46310 NULL 0.724 - - - no_errors RP11-789A21.1 Clone_based_vega_gene ENSG00000259044 tier3 953 0 0 603 517 46.1607142857143 373 82 17.9431072210066 14 85994787 85994787 A C SNP LOC100506731 ENST00000380722 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-497E19.1 Clone_based_vega_gene ENSG00000205562 tier2 1086 0 0 1396 2 0.143061516452074 506 2 0.392156862745098 14 86169010 86169010 A G SNP - - - - - - - - - - - - - - - - - - tier3 1021 0 0 1361 3 0.219941348973607 512 1 0.194931773879142 14 86539886 86539886 G A SNP ENSG00000258733 ENST00000553668 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors CTD-2341M24.1 Clone_based_vega_gene ENSG00000258733 tier4 1309 0 0 900 731 44.7916666666667 490 104 17.5084175084175 14 88303237 88303237 G A SNP ENSG00000258807 ENST00000554305 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-1152H15.1 Clone_based_vega_gene ENSG00000258807 tier3 620 2 0.321543408360129 753 97 11.4117647058824 369 0 0 14 88544371 88544371 T A SNP LOC283587 ENST00000553496 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-300J18.3 Clone_based_vega_gene ENSG00000258867 tier3 827 1 0.120772946859903 591 524 46.9955156950673 338 95 21.9399538106236 14 89031892 89031892 A G SNP ZC3H14 ENST00000251038 human ensembl 70_37 +1 known intronic c.79+1855 e2+1855 0.001 - - - no_errors ZC3H14 HGNC ENSG00000100722 tier4 1133 0 0 796 681 46.1069735951253 516 118 18.6119873817035 14 89245616 89245616 G A SNP EML5 ENST00000554922 human ensembl 70_37 -1 known intronic c.197+13035 e1+13035 0.067 - - - no_errors EML5 HGNC ENSG00000165521 tier3 1502 0 0 2154 2 0.092678405931418 628 2 0.317460317460317 14 89314963 89314963 G T SNP TTC8 ENST00000338104 human ensembl 70_37 +1 known intronic c.672+1944 e7+1944 0.015 - - - no_errors TTC8 HGNC ENSG00000165533 tier4 1094 0 0 1599 4 0.249376558603491 448 0 0 14 90001680 90001680 T C SNP FOXN3 ENST00000345097 human ensembl 70_37 -1 known intronic c.1+83692 e0+83692 0.104 - - - no_errors FOXN3 HGNC ENSG00000053254 tier3 735 0 0 1229 4 0.32441200324412 444 2 0.448430493273543 14 91119983 91119983 A G SNP TTC7B ENST00000357056 human ensembl 70_37 -1 known intronic c.1460-741 e13-741 0.000 - - - no_errors TTC7B HGNC ENSG00000165914 tier3 896 0 0 1270 2 0.157232704402516 468 2 0.425531914893617 14 91638410 91638410 A T SNP C14orf159 ENST00000256324 human ensembl 70_37 +1 known intronic c.457-1223 e4-1223 0.035 - - - no_errors C14orf159 HGNC ENSG00000133943 tier4 1254 0 0 1984 2 0.100654252642174 559 1 0.178571428571429 14 92920005 92920005 G A SNP SLC24A4 ENST00000526482 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*92920005 NULL 0.000 - - - no_coding_region SLC24A4 HGNC ENSG00000140090 tier3 815 0 0 644 681 51.3574660633484 353 53 12.9901960784314 14 93677340 93677340 G T SNP UBR7 ENST00000013070 human ensembl 70_37 +1 known intronic c.345+286 e3+286 0.000 - - - no_errors UBR7 HGNC ENSG00000012963 tier3 1859 0 0 2964 6 0.201952204644901 819 0 0 14 93911911 93911911 G A SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known intronic c.22+14514 e1+14514 0.003 - - - no_errors UNC79 HGNC ENSG00000133958 tier4 1812 0 0 1292 1180 47.7346278317152 579 178 23.5138705416116 14 94090591 94090591 C T SNP UNC79 ENST00000553484 human ensembl 70_37 +1 known intronic c.5674+1404 e31+1404 0.000 - - - no_errors UNC79 HGNC ENSG00000133958 tier3 993 0 0 908 371 29.007036747459 485 0 0 14 95794328 95794328 A C SNP CLMN ENST00000298912 human ensembl 70_37 -1 known 5_prime_flanking_region c.-8199 NULL 0.000 - - - no_errors CLMN HGNC ENSG00000165959 tier4 1191 0 0 1542 1 0.0648088139987038 523 36 6.44007155635063 14 97439951 97439951 T C SNP LINC00618 ENST00000435624 human ensembl 70_37 +1 known 3_prime_flanking_region c.*28220 NULL 0.010 - - - no_errors LINC00618 HGNC ENSG00000225163 tier4 2190 0 0 2828 3 0.105932203389831 814 0 0 14 99090174 99090174 T G SNP - - - - - - - - - - - - - - - - - - tier3 1056 0 0 1357 2 0.147167034584253 444 0 0 14 100358807 100358807 C T SNP EML1 ENST00000334192 human ensembl 70_37 +1 known intronic c.604+1243 e6+1243 0.555 - - - no_errors EML1 HGNC ENSG00000066629 tier3 909 0 0 681 589 46.3779527559055 344 69 16.7070217917676 14 102145282 102145282 C A SNP ENSG00000258404 ENST00000557778 human ensembl 70_37 -1 known intronic c.NULL NULL 0.023 - - - no_errors RP11-1029J19.5 Clone_based_vega_gene ENSG00000258404 tier4 281 0 0 434 1 0.229885057471264 237 8 3.26530612244898 14 102581990 102581990 T G SNP HSP90AA1 ENST00000334701 human ensembl 70_37 -1 known intronic c.156-13568 e2-13568 0.522 - - - no_errors HSP90AA1 HGNC ENSG00000080824 tier4 1643 0 0 2752 1 0.0363108206245461 429 4 0.919540229885057 14 103454116 103454116 A C SNP CDC42BPB ENST00000361246 human ensembl 70_37 -1 known intronic c.597-1199 e6-1199 0.004 - - - no_errors CDC42BPB HGNC ENSG00000198752 tier4 1064 0 0 1684 2 0.118413262285376 502 0 0 14 103731794 103731794 T G SNP ENSG00000240624 ENST00000494237 human ensembl 70_37 +1 known 5_prime_flanking_region c.-17476 NULL 0.313 - - - no_coding_region:pseudogene RP11-45P15.2 Clone_based_vega_gene ENSG00000240624 tier4 402 0 0 661 4 0.601503759398496 203 2 0.975609756097561 14 104704307 104704307 G A SNP ENSG00000258913 ENST00000553757 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors RP11-260M19.2 Clone_based_vega_gene ENSG00000258913 tier4 619 0 0 776 13 1.64765525982256 293 80 21.4477211796247 14 105075274 105075274 A C SNP TMEM179 ENST00000556573 human ensembl 70_37 -1 known 5_prime_flanking_region c.-4196 NULL 0.037 - - - no_errors TMEM179 HGNC ENSG00000258986 tier4 422 0 0 565 5 0.87719298245614 248 2 0.8 14 105354403 105354403 G A SNP KIAA0284 ENST00000453495 human ensembl 70_37 +1 known intronic c.3742+88 e11+88 0.000 - - - no_errors KIAA0284 HGNC ENSG00000099814 tier3 150 1 0.662251655629139 113 71 38.5869565217391 79 23 22.5490196078431 14 106120802 106120802 T G SNP ENSG00000254140 ENST00000390540 human ensembl 70_37 -1 known 5_prime_flanking_region c.-49108 NULL 0.010 - - - no_errors RP11-731F5.1 Clone_based_vega_gene ENSG00000254140 tier4 1514 0 0 2153 4 0.185356811862836 878 0 0 14 106233179 106233179 C T SNP IGHEP1 ENST00000521393 human ensembl 70_37 -1 known 5_prime_flanking_region c.-44315 NULL 0.786 - - - no_coding_region:pseudogene IGHEP1 HGNC ENSG00000253692 tier3 111 0 0 93 57 38 81 11 11.9565217391304 14 106297785 106297785 C A SNP ENSG00000265612 ENST00000579784 human ensembl 70_37 -1 known 3_prime_flanking_region c.*25897 NULL 0.726 - - - no_errors hsa-mir-4539 miRBase ENSG00000265612 tier4 834 0 0 767 260 25.3164556962025 472 0 0 14 106393036 106393036 C A SNP IGHD3-16 ENST00000390577 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31508 NULL 0.002 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IGHD3-16 HGNC ENSG00000211917 tier3 871 1 0.114678899082569 771 381 33.0729166666667 382 0 0 14 106817399 106817399 T A SNP IGHV4-31 ENST00000438142 human ensembl 70_37 -1 known 5_prime_flanking_region c.-11755 NULL 0.000 - - - no_stop_codon IGHV4-31 HGNC ENSG00000231475 tier3 1363 0 0 1731 2 0.115207373271889 701 0 0 14 106828130 106828130 C T SNP IGHV4-31 ENST00000438142 human ensembl 70_37 -1 known 5_prime_flanking_region c.-22486 NULL 0.049 - - - no_stop_codon IGHV4-31 HGNC ENSG00000231475 tier3 464 0 0 575 3 0.519031141868512 289 0 0 14 106828131 106828131 T G SNP IGHV4-31 ENST00000438142 human ensembl 70_37 -1 known 5_prime_flanking_region c.-22487 NULL 0.047 - - - no_stop_codon IGHV4-31 HGNC ENSG00000231475 tier3 453 0 0 564 3 0.529100529100529 290 0 0 15 20018492 20018492 A T SNP - - - - - - - - - - - - - - - - - - tier4 98 0 0 111 4 3.47826086956522 62 3 4.61538461538462 15 20496212 20496212 A G SNP CHEK2P2 ENST00000555186 human ensembl 70_37 +1 known intronic c.NULL NULL 0.031 - - - no_errors CHEK2P2 HGNC ENSG00000259156 tier2 122 0 0 150 2 1.31578947368421 95 0 0 15 20544833 20544833 C G SNP ENSG00000258654 ENST00000554815 human ensembl 70_37 +1 known 5_prime_flanking_region c.-9738 NULL 0.138 - - - no_errors RP11-509A17.3 Clone_based_vega_gene ENSG00000258654 tier2 1359 0 0 1885 3 0.158814187400741 862 1 0.115340253748558 15 20645725 20645725 A C SNP HERC2P3 ENST00000426501 human ensembl 70_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 tier1 642 0 0 910 4 0.437636761487965 302 1 0.325732899022801 15 20890332 20890332 T G SNP NBEAP1 ENST00000554452 human ensembl 70_37 -1 known intronic c.NULL NULL 0.009 - - - no_coding_region:pseudogene NBEAP1 HGNC ENSG00000258590 tier4 2039 0 0 2955 4 0.135180804325786 1352 3 0.22140221402214 15 21104641 21104641 A T SNP LOC100996331 ENST00000454856 human ensembl 70_37 -1 known 5_prime_flanking_region c.-33031 NULL 0.231 - - - no_errors POTEB Uniprot_genename ENSG00000230031 tier2 1396 0 0 1926 1 0.0518672199170124 787 4 0.50314465408805 15 21917706 21917706 G C SNP ENSG00000207289 ENST00000384559 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-32953 NULL 0.041 - - - no_errors U6 RFAM ENSG00000207289 tier4 1177 0 0 1534 3 0.195185426154847 677 4 0.583090379008746 15 21939844 21939844 A T SNP ENSG00000207289 ENST00000384559 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-10815 NULL 0.009 - - - no_errors U6 RFAM ENSG00000207289 tier2 2521 0 0 3463 2 0.0577034045008655 1298 0 0 15 21999753 21999753 T G SNP ENSG00000247765 ENST00000500487 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31602 NULL 0.045 - - - no_errors RP11-32B5.7 Clone_based_vega_gene ENSG00000247765 tier2 991 0 0 1248 3 0.239808153477218 752 0 0 15 22466205 22466205 T C SNP ENSG00000261271 ENST00000564926 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-22466205 NULL 0.000 - - - no_coding_region:pseudogene RP11-603B24.5 Clone_based_vega_gene ENSG00000261271 tier2 817 0 0 1106 2 0.180505415162455 508 2 0.392156862745098 15 23166855 23166855 A C SNP ENSG00000259480 ENST00000560053 human ensembl 70_37 -1 known 5_prime_flanking_region c.-34928 NULL 0.137 - - - no_errors RP11-26F2.1 Clone_based_vega_gene ENSG00000259480 tier4 1297 0 0 1820 1 0.0548847420417124 733 3 0.407608695652174 15 23908977 23908977 A G SNP MAGEL2 ENST00000532292 human ensembl 70_37 -1 known 5_prime_flanking_region c.-17897 NULL 0.001 - - - no_errors MAGEL2 HGNC ENSG00000254585 tier2 1240 0 0 1639 2 0.121802679658952 510 0 0 15 24429033 24429033 A G SNP PWRN2 ENST00000566245 human ensembl 70_37 -1 known 5_prime_flanking_region c.-14012 NULL 0.236 - - - no_errors PWRN2 HGNC ENSG00000260551 tier4 714 0 0 479 365 43.2464454976303 349 59 14.4607843137255 15 25223412 25223412 C T SNP SNRPN ENST00000444203 human ensembl 70_37 +1 known missense c.644 p.T215M 0.861 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 tier1 212 0 0 164 145 46.9255663430421 109 20 15.3846153846154 15 25223412 25223412 C T SNP SNRPN ENST00000444203 human ensembl 70_37 +1 known missense c.644 p.T215M 0.861 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 tier1 388 0 0 243 231 48.7341772151899 261 42 13.8157894736842 15 25835230 25835230 G A SNP ENSG00000235731 ENST00000422117 human ensembl 70_37 -1 known 5_prime_flanking_region c.-11292 NULL 0.000 - - - no_errors AC124997.1 Clone_based_vega_gene ENSG00000235731 tier2 902 0 0 751 327 30.3339517625232 370 0 0 15 26146809 26146809 G T SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known 5_prime_flanking_region c.-38566 NULL 0.000 - - - no_errors ATP10A HGNC ENSG00000206190 tier4 1118 1 0.0892857142857143 759 599 44.0765268579838 444 72 13.953488372093 15 26646289 26646289 C T SNP ENSG00000235160 ENST00000451579 human ensembl 70_37 +1 known intronic c.NULL NULL 0.053 - - - no_errors AC009878.2 Clone_based_vega_gene ENSG00000235160 tier4 1145 0 0 1470 2 0.135869565217391 600 2 0.327868852459016 15 26661659 26661659 T A SNP ENSG00000235160 ENST00000451579 human ensembl 70_37 +1 known intronic c.NULL NULL 0.253 - - - no_errors AC009878.2 Clone_based_vega_gene ENSG00000235160 tier4 1533 0 0 1976 2 0.101112234580384 735 0 0 15 27664276 27664276 G T SNP ENSG00000258970 ENST00000557025 human ensembl 70_37 -1 known splice_region c.NULL NULL 0.000 - - - no_errors RP11-100M12.1 Clone_based_vega_gene ENSG00000258970 tier2 996 1 0.100300902708124 990 120 10.8108108108108 519 8 1.51228733459357 15 29051782 29051782 C T SNP LOC646278 ENST00000562423 human ensembl 70_37 +1 putative intronic c.NULL NULL 0.002 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 tier2 1044 0 0 1325 6 0.450788880540947 569 0 0 15 29435496 29435496 A G SNP FAM189A1 ENST00000261275 human ensembl 70_37 -1 known intronic c.631-6099 e6-6099 0.000 - - - no_errors FAM189A1 HGNC ENSG00000104059 tier2 2107 0 0 2757 6 0.217155266015201 788 3 0.379266750948167 15 29828224 29828224 C A SNP FAM189A1 ENST00000261275 human ensembl 70_37 -1 known intronic c.219+34485 e1+34485 0.003 - - - no_errors FAM189A1 HGNC ENSG00000104059 tier4 560 0 0 738 63 7.86516853932584 332 2 0.598802395209581 15 31498152 31498152 A C SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known 5_prime_flanking_region c.-44990 NULL 0.003 - - - no_errors TRPM1 HGNC ENSG00000134160 tier4 958 0 0 1502 2 0.132978723404255 437 5 1.12107623318386 15 31529785 31529785 G A SNP ENSG00000259772 ENST00000558109 human ensembl 70_37 -1 known 5_prime_flanking_region c.-8172 NULL 0.009 - - - no_errors RP11-16E12.2 Clone_based_vega_gene ENSG00000259772 tier2 815 0 0 655 539 45.142378559464 379 79 17.2489082969432 15 33438888 33438888 C T SNP FMN1 ENST00000559047 human ensembl 70_37 -1 novel intronic c.1867+6361 e1+6361 0.000 - - - no_errors FMN1 HGNC ENSG00000248905 tier2 1228 2 0.16260162601626 834 670 44.5478723404255 530 109 16.9517884914463 15 33594227 33594227 C A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known 5_prime_flanking_region c.-9020 NULL 0.319 - - - no_errors RYR3 HGNC ENSG00000198838 tier2 1330 1 0.0750750750750751 901 767 45.9556620730977 598 106 15.0354609929078 15 33680047 33680047 T G SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known intronic c.51+76750 e1+76750 0.000 - - - no_errors RYR3 HGNC ENSG00000198838 tier4 889 0 0 1241 3 0.241157556270096 381 1 0.261780104712042 15 33692060 33692060 T A SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known intronic c.52-73560 e2-73560 0.922 - - - no_errors RYR3 HGNC ENSG00000198838 tier2 1793 0 0 1129 948 45.6427539720751 499 111 18.1967213114754 15 33902381 33902381 A C SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known intronic c.2165-3003 e19-3003 0.000 - - - no_errors RYR3 HGNC ENSG00000198838 tier2 698 0 0 772 3 0.387096774193548 303 1 0.328947368421053 15 35395366 35395366 G A SNP ENSG00000259336 ENST00000559246 human ensembl 70_37 -1 known intronic c.NULL NULL 0.204 - - - no_errors RP11-323I15.5 Clone_based_vega_gene ENSG00000259336 tier2 888 0 0 1169 2 0.170648464163823 391 1 0.254452926208651 15 36092392 36092392 C T SNP ATPBD4-AS1 ENST00000501169 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors ATPBD4-AS1 HGNC ENSG00000248079 tier2 1549 0 0 956 716 42.822966507177 559 118 17.3784977908689 15 36776935 36776935 C T SNP ENSG00000259737 ENST00000558262 human ensembl 70_37 -1 known 5_prime_flanking_region c.-24285 NULL 0.001 - - - no_errors RP11-475A13.1 Clone_based_vega_gene ENSG00000259737 tier2 1201 0 0 1393 183 11.6116751269036 551 0 0 15 37036103 37036103 C A SNP C15orf41 ENST00000437989 human ensembl 70_37 +1 known intronic c.716+33941 e10+33941 0.000 - - - no_errors C15orf41 HGNC ENSG00000186073 tier4 1574 0 0 2220 2 0.09000900090009 642 5 0.770416024653313 15 38406446 38406446 T G SNP LOC100507568 ENST00000434223 human ensembl 70_37 -1 known 5_prime_flanking_region c.-41562 NULL 0.148 - - - no_errors RP11-1008C21.2 Clone_based_vega_gene ENSG00000236914 tier2 1878 0 0 2517 2 0.0793965859468043 778 0 0 15 38706961 38706961 A T SNP FAM98B ENST00000397609 human ensembl 70_37 +1 known 5_prime_flanking_region c.-39402 NULL 0.002 - - - no_errors FAM98B HGNC ENSG00000171262 tier2 723 0 0 480 399 45.3924914675768 282 62 18.0232558139535 15 39343989 39343989 G A SNP ENSG00000259345 ENST00000560197 human ensembl 70_37 -1 known intronic c.NULL NULL 0.192 - - - no_errors RP11-624L4.1 Clone_based_vega_gene ENSG00000259345 tier4 1184 0 0 819 567 40.8795962509012 437 108 19.8165137614679 15 39756466 39756466 A G SNP ENSG00000259345 ENST00000558209 human ensembl 70_37 -1 known 5_prime_flanking_region c.-37070 NULL 0.013 - - - no_errors RP11-624L4.1 Clone_based_vega_gene ENSG00000259345 tier4 1853 0 0 2607 3 0.114898506319418 803 1 0.124069478908189 15 39766652 39766652 G A SNP ENSG00000259269 ENST00000560552 human ensembl 70_37 +1 known intronic c.NULL NULL 0.028 - - - no_errors RP11-624L4.2 Clone_based_vega_gene ENSG00000259269 tier2 577 0 0 407 350 46.1741424802111 240 34 12.4087591240876 15 42648928 42648928 T C SNP CAPN3 ENST00000356316 human ensembl 70_37 +1 known intronic c.48+2277 e1+2277 0.027 - - - no_errors CAPN3 HGNC ENSG00000092529 tier2 858 0 0 1271 2 0.157109190887667 447 0 0 15 43509223 43509223 A C SNP EPB42 ENST00000300215 human ensembl 70_37 -1 known intronic c.101-572 e2-572 0.003 - - - no_errors EPB42 HGNC ENSG00000166947 tier2 679 0 0 1016 2 0.196463654223969 400 0 0 15 44849384 44849384 T G SNP EIF3J ENST00000261868 human ensembl 70_37 +1 known intronic c.410-303 e6-303 0.001 - - - no_errors EIF3J HGNC ENSG00000104131 tier4 425 0 0 625 2 0.318979266347687 237 0 0 15 46535678 46535678 C A SNP - - - - - - - - - - - - - - - - - - tier2 899 0 0 1024 12 1.15718418514947 436 92 17.4242424242424 15 46730408 46730408 T A SNP - - - - - - - - - - - - - - - - - - tier4 1145 1 0.087260034904014 1552 37 2.32850849590938 625 0 0 15 46981507 46981507 G A SNP ENSG00000259255 ENST00000559148 human ensembl 70_37 +1 known 5_prime_flanking_region c.-3979 NULL 0.000 - - - no_errors RP11-627D16.1 Clone_based_vega_gene ENSG00000259255 tier4 1800 0 0 1301 1020 43.946574752262 606 160 20.7792207792208 15 47196490 47196490 G A SNP - - - - - - - - - - - - - - - - - - tier4 1281 0 0 857 731 46.0037759597231 559 82 12.7131782945736 15 48135386 48135386 A C SNP ENSG00000259572 ENST00000558434 human ensembl 70_37 -1 known intronic c.NULL NULL 0.002 - - - no_errors RP11-198M11.2 Clone_based_vega_gene ENSG00000259572 tier2 555 0 0 708 2 0.28169014084507 247 0 0 15 49287403 49287403 G T SNP SECISBP2L ENST00000559471 human ensembl 70_37 -1 known intronic c.2623+1161 e17+1161 0.000 - - - no_errors SECISBP2L HGNC ENSG00000138593 tier2 865 0 0 1230 5 0.40453074433657 398 3 0.748129675810474 15 50105049 50105049 T C SNP FGF7 ENST00000560765 human ensembl 70_37 +1 known intronic c.585-44264 e4-44264 0.000 - - - no_errors FGF7 HGNC ENSG00000140285 tier4 828 0 0 1160 3 0.257953568357696 417 1 0.238095238095238 15 50781364 50781364 A T SNP USP8 ENST00000307179 human ensembl 70_37 +1 known intronic c.1891-634 e12-634 0.001 - - - no_errors USP8 HGNC ENSG00000138592 tier2 391 0 0 614 1 0.16260162601626 291 3 1.02040816326531 15 51381470 51381470 A C SNP TNFAIP8L3 ENST00000327536 human ensembl 70_37 -1 known intronic c.316+5271 e2+5271 0.000 - - - no_errors TNFAIP8L3 HGNC ENSG00000183578 tier2 372 0 0 558 4 0.711743772241993 190 0 0 15 51667860 51667860 A C SNP GLDN ENST00000335449 human ensembl 70_37 +1 known intronic c.364-1786 e2-1786 0.000 - - - no_errors GLDN HGNC ENSG00000186417 tier2 596 0 0 823 3 0.36319612590799 270 1 0.367647058823529 15 52038928 52038928 A C SNP LYSMD2 ENST00000454181 human ensembl 70_37 -1 known intronic c.1+4540 e0+4540 0.210 - - - no_errors LYSMD2 HGNC ENSG00000140280 tier4 769 0 0 1116 5 0.446030330062444 363 4 1.08991825613079 15 52990509 52990509 A G SNP FAM214A ENST00000561490 human ensembl 70_37 -1 known intronic c.1+11414 e0+11414 0.000 - - - no_stop_codon FAM214A HGNC ENSG00000047346 tier4 880 0 0 1136 3 0.262927256792287 377 0 0 15 53556639 53556639 A C SNP - - - - - - - - - - - - - - - - - - tier4 606 0 0 791 4 0.50314465408805 318 4 1.24223602484472 15 56701022 56701022 C A SNP ENSG00000261823 ENST00000561934 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors RP11-48G14.1 Clone_based_vega_gene ENSG00000261823 tier1 861 0 0 1129 2 0.17683465959328 432 4 0.917431192660551 15 57286339 57286339 A G SNP TCF12 ENST00000438423 human ensembl 70_37 +1 known intronic c.149-69609 e3-69609 0.002 - - - no_errors TCF12 HGNC ENSG00000140262 tier4 1511 0 0 2211 2 0.0903750564844103 561 3 0.531914893617021 15 57301907 57301907 G A SNP TCF12 ENST00000438423 human ensembl 70_37 +1 known intronic c.149-54041 e3-54041 0.002 - - - no_errors TCF12 HGNC ENSG00000140262 tier3 1143 0 0 1473 172 10.4432301153613 564 2 0.353356890459364 15 57318460 57318460 A C SNP TCF12 ENST00000438423 human ensembl 70_37 +1 known intronic c.149-37488 e3-37488 0.000 - - - no_errors TCF12 HGNC ENSG00000140262 tier4 525 0 0 747 4 0.531914893617021 254 0 0 15 57378647 57378647 A C SNP TCF12 ENST00000438423 human ensembl 70_37 +1 known intronic c.223-5340 e4-5340 0.001 - - - no_errors TCF12 HGNC ENSG00000140262 tier4 954 0 0 1303 4 0.305576776165011 438 2 0.454545454545455 15 57826647 57826647 A C SNP CGNL1 ENST00000281282 human ensembl 70_37 +1 known intronic c.3291+2670 e13+2670 0.018 - - - no_errors CGNL1 HGNC ENSG00000128849 tier3 571 0 0 672 2 0.29673590504451 255 1 0.390625 15 58067762 58067762 C T SNP POLR2M ENST00000482852 human ensembl 70_37 +1 known intronic c.1092-2031 e5-2031 0.000 - - - no_errors POLR2M HGNC ENSG00000255529 tier3 1247 1 0.0801282051282051 793 638 44.5842068483578 488 101 17.0896785109983 15 60121896 60121896 C A SNP ENSG00000259601 ENST00000558620 human ensembl 70_37 -1 known 3_prime_flanking_region c.*41814 NULL 0.000 - - - no_coding_region:pseudogene RP11-568G20.2 Clone_based_vega_gene ENSG00000259601 tier3 871 0 0 601 526 46.6725820763088 425 79 15.6126482213439 15 60979044 60979044 G A SNP LOC100996876 ENST00000558104 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-219B17.2 Clone_based_vega_gene ENSG00000259482 tier1 1908 0 0 1676 770 31.4799672935405 754 0 0 15 63140299 63140299 G T SNP ENSG00000259370 ENST00000557994 human ensembl 70_37 -1 known rna NULL NULL 0.915 - - - no_errors RP11-1069G10.1 Clone_based_vega_gene ENSG00000259370 tier1 1066 0 0 711 597 45.6422018348624 383 82 17.6344086021505 15 63755912 63755912 G A SNP ENSG00000259268 ENST00000560465 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.002 - - - no_errors AC007950.1 Clone_based_vega_gene ENSG00000259268 tier2 585 0 0 475 368 43.6536180308422 268 58 17.7914110429448 15 63812071 63812071 A T SNP USP3 ENST00000380324 human ensembl 70_37 +1 known intronic c.92-12775 e2-12775 0.279 - - - no_errors USP3 HGNC ENSG00000140455 tier4 1031 0 0 1359 3 0.220264317180617 456 2 0.436681222707424 15 64378699 64378699 A C SNP FAM96A ENST00000300030 human ensembl 70_37 -1 known intronic c.289+2187 e2+2187 0.759 - - - no_errors FAM96A HGNC ENSG00000166797 tier4 1052 0 0 1508 2 0.132362673726009 513 0 0 15 64517451 64517451 A C SNP CSNK1G1 ENST00000303052 human ensembl 70_37 -1 known intronic c.293-8539 e4-8539 0.005 - - - no_errors CSNK1G1 HGNC ENSG00000169118 tier4 2168 0 0 3653 2 0.0546448087431694 646 1 0.153609831029186 15 65520773 65520773 C T SNP CILP ENST00000261883 human ensembl 70_37 -1 known 5_prime_flanking_region c.-18680 NULL 0.006 - - - no_errors CILP HGNC ENSG00000138615 tier3 460 2 0.432900432900433 385 310 44.6043165467626 287 79 21.3513513513514 15 66956917 66956917 C T SNP ENSG00000259471 ENST00000558797 human ensembl 70_37 +1 novel intronic c.124+127 e2+127 0.273 - - - no_errors RP11-321F6.1 Clone_based_vega_gene ENSG00000259471 tier4 548 0 0 698 5 0.710227272727273 301 1 0.33112582781457 15 67109580 67109580 G A SNP SMAD6 ENST00000288840 human ensembl 70_37 +1 known 3_prime_flanking_region c.*35707 NULL 0.013 - - - no_errors SMAD6 HGNC ENSG00000137834 tier4 1396 0 0 1019 875 46.1741424802111 543 86 13.6724960254372 15 70821526 70821526 G C SNP ENSG00000259473 ENST00000559752 human ensembl 70_37 -1 known 5_prime_flanking_region c.-23259 NULL 0.016 - - - no_errors RP11-96C21.1 Clone_based_vega_gene ENSG00000259473 tier3 881 0 0 703 558 44.1805225653207 277 72 20.6303724928367 15 72186986 72186986 T G SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known intronic c.5043-867 e25-867 0.002 - - - no_errors MYO9A HGNC ENSG00000066933 tier3 901 0 0 1294 4 0.307929176289453 475 7 1.45228215767635 15 72266773 72266773 A G SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known intronic c.1844+3739 e11+3739 0.031 - - - no_errors MYO9A HGNC ENSG00000066933 tier4 1524 0 0 2293 3 0.130662020905923 701 0 0 15 72280907 72280907 A C SNP MYO9A ENST00000424560 human ensembl 70_37 -1 known intronic c.1722+2537 e10+2537 0.017 - - - no_errors MYO9A HGNC ENSG00000066933 tier3 1291 0 0 1837 2 0.108754758020663 564 1 0.176991150442478 15 73783301 73783301 G A SNP C15orf60 ENST00000331090 human ensembl 70_37 +1 known intronic c.249+17039 e2+17039 0.057 - - - no_errors C15orf60 HGNC ENSG00000183324 tier4 731 0 0 950 4 0.418848167539267 376 0 0 15 74663925 74663925 A C SNP CYP11A1 ENST00000268053 human ensembl 70_37 -1 known 5_prime_flanking_region c.-3999 NULL 0.050 - - - no_errors CYP11A1 HGNC ENSG00000140459 tier4 620 0 0 902 2 0.221238938053097 269 3 1.10294117647059 15 74967445 74967445 T C SNP EDC3 ENST00000315127 human ensembl 70_37 -1 known silent c.21 p.G7 0.998 NULL pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom - no_errors EDC3 HGNC ENSG00000179151 tier1 487 0 0 756 2 0.263852242744063 262 0 0 15 76100484 76100484 T G SNP UBE2Q2 ENST00000267938 human ensembl 70_37 +1 known 5_prime_flanking_region c.-35524 NULL 0.005 - - - no_errors UBE2Q2 HGNC ENSG00000140367 tier3 529 0 0 777 2 0.256410256410256 286 2 0.694444444444444 15 76138913 76138913 C T SNP UBE2Q2 ENST00000267938 human ensembl 70_37 +1 known intronic c.180+2726 e1+2726 0.000 - - - no_errors UBE2Q2 HGNC ENSG00000140367 tier3 660 0 0 1036 2 0.192678227360308 406 5 1.21654501216545 15 76275526 76275526 C A SNP NRG4 ENST00000394907 human ensembl 70_37 -1 known intronic c.105-21211 e3-21211 0.013 - - - no_errors NRG4 HGNC ENSG00000169752 tier4 1292 0 0 1874 5 0.266098988823842 509 2 0.388349514563107 15 77691099 77691099 T G SNP PEAK1 ENST00000560626 human ensembl 70_37 -1 known intronic c.1+21249 e0+21249 0.726 - - - no_errors PEAK1 Uniprot_genename ENSG00000173517 tier4 1933 0 0 1463 1175 44.5413191811979 480 136 22.0779220779221 15 79357992 79357992 G A SNP RASGRF1 ENST00000419573 human ensembl 70_37 -1 known intronic c.277-1124 e2-1124 0.000 - - - no_errors RASGRF1 HGNC ENSG00000058335 tier3 525 0 0 486 216 30.7254623044097 255 1 0.390625 15 80814023 80814023 C T SNP ARNT2 ENST00000303329 human ensembl 70_37 +1 known intronic c.877+7277 e8+7277 0.000 - - - no_errors ARNT2 HGNC ENSG00000172379 tier3 981 1 0.10183299389002 1238 122 8.97058823529412 586 0 0 15 81702727 81702727 A C SNP TMC3 ENST00000359440 human ensembl 70_37 -1 known 5_prime_flanking_region c.-36309 NULL 0.000 - - - no_errors TMC3 HGNC ENSG00000188869 tier3 826 0 0 1123 3 0.266193433895297 417 0 0 15 81809859 81809859 T G SNP ENSG00000259543 ENST00000559211 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors CTD-2034I4.1 Clone_based_vega_gene ENSG00000259543 tier3 949 0 0 1235 2 0.161681487469685 537 0 0 15 81922766 81922766 A G SNP ENSG00000259594 ENST00000558141 human ensembl 70_37 +1 known intronic c.NULL NULL 0.003 - - - no_errors CTD-2034I4.2 Clone_based_vega_gene ENSG00000259594 tier3 1675 0 0 2547 5 0.195924764890282 666 0 0 15 83762457 83762457 T G SNP ENSG00000259805 ENST00000566841 human ensembl 70_37 +1 known intronic c.NULL NULL 0.049 - - - no_errors RP11-382A20.5 Clone_based_vega_gene ENSG00000259805 tier4 629 0 0 939 3 0.318471337579618 357 1 0.277777777777778 15 85880482 85880482 T G SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known 5_prime_flanking_region c.-148470 NULL 0.095 - - - no_errors AKAP13 HGNC ENSG00000170776 tier4 748 0 0 1062 2 0.18796992481203 418 0 0 15 87395174 87395174 A T SNP AGBL1 ENST00000441037 human ensembl 70_37 +1 known intronic c.3084-136044 e22-136044 0.000 - - - no_errors AGBL1 HGNC ENSG00000166748 tier4 1113 0 0 1427 2 0.139958012596221 454 0 0 15 87714856 87714856 A C SNP - - - - - - - - - - - - - - - - - - tier3 1371 0 0 1792 2 0.111482720178372 642 0 0 15 88727273 88727273 G A SNP NTRK3 ENST00000360948 human ensembl 70_37 -1 known intronic c.323+183 e2+183 0.002 - - - no_errors NTRK3 HGNC ENSG00000140538 tier3 1522 0 0 1004 846 45.7050243111831 549 119 17.814371257485 15 89135370 89135370 T G SNP ENSG00000249487 ENST00000506090 human ensembl 70_37 -1 known intronic c.NULL NULL 0.029 - - - no_errors RP11-97O12.2 Clone_based_vega_gene ENSG00000249487 tier4 1406 1 0.0710227272727273 1031 887 46.2460896767466 583 122 17.3049645390071 15 90569284 90569284 T A SNP ZNF710 ENST00000268154 human ensembl 70_37 +1 known intronic c.1+24438 e0+24438 0.113 - - - no_errors ZNF710 HGNC ENSG00000140548 tier4 1131 0 0 1820 2 0.109769484083425 641 0 0 15 90631934 90631934 C T SNP IDH2 ENST00000330062 human ensembl 70_37 -1 known missense c.419 p.R140Q 1.000 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH2 HGNC ENSG00000182054 tier1 286 0 0 257 6 2.28 245 38 13.38 15 90981833 90981833 G A SNP IQGAP1 ENST00000268182 human ensembl 70_37 +1 known intronic c.468-731 e6-731 0.000 - - - no_errors IQGAP1 HGNC ENSG00000140575 tier3 1236 0 0 996 784 44.0449438202247 566 126 18 15 91561926 91561926 T G SNP VPS33B ENST00000333371 human ensembl 70_37 -1 known intronic c.97-811 e2-811 0.001 - - - no_errors VPS33B HGNC ENSG00000184056 tier4 279 0 0 413 2 0.481927710843374 192 1 0.518134715025907 15 92344250 92344250 T G SNP ENSG00000238981 ENST00000459209 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-34359 NULL 0.002 - - - no_errors snoU13 RFAM ENSG00000238981 tier3 1005 0 0 1336 3 0.223880597014925 388 2 0.512820512820513 15 92966965 92966965 A C SNP ST8SIA2 ENST00000268164 human ensembl 70_37 +1 known intronic c.99-6314 e2-6314 0.000 - - - no_errors ST8SIA2 HGNC ENSG00000140557 tier4 574 0 0 815 2 0.244498777506112 226 2 0.87719298245614 15 93195796 93195796 T G SNP FAM174B ENST00000327355 human ensembl 70_37 -1 known intronic c.344+2750 e1+2750 0.000 - - - no_errors FAM174B HGNC ENSG00000185442 tier3 786 0 0 1183 2 0.168776371308017 442 2 0.45045045045045 15 95269189 95269189 T C SNP - - - - - - - - - - - - - - - - - - tier4 676 0 0 920 5 0.538793103448276 201 0 0 15 95643820 95643820 A G SNP ENSG00000258773 ENST00000554787 human ensembl 70_37 -1 known intronic c.NULL NULL 0.004 - - - no_errors RP11-255M2.2 Clone_based_vega_gene ENSG00000258773 tier4 1067 2 0.187090739008419 771 573 42.6022304832714 518 130 20.0617283950617 15 96266117 96266117 A C SNP RNU2-3P ENST00000410144 human ensembl 70_37 +1 known 5_prime_flanking_region c.-22916 NULL 0.031 - - - no_errors RNU2-3P HGNC ENSG00000222076 tier4 1198 0 0 1458 2 0.136986301369863 532 2 0.374531835205993 15 96503316 96503316 C A SNP - - - - - - - - - - - - - - - - - - tier2 1740 0 0 2434 5 0.2050020500205 637 1 0.15625 15 97125120 97125120 G A SNP ENSG00000259340 ENST00000559699 human ensembl 70_37 +1 known 3_prime_flanking_region c.*30373 NULL 0.942 - - - no_coding_region:pseudogene CTD-2027G2.1 Clone_based_vega_gene ENSG00000259340 tier3 1060 0 0 666 540 44.7761194029851 404 84 17.1428571428571 15 98116020 98116020 C A SNP ENSG00000259582 ENST00000559363 human ensembl 70_37 -1 known 5_prime_flanking_region c.-12088 NULL 0.021 - - - no_errors RP11-461F11.3 Clone_based_vega_gene ENSG00000259582 tier3 656 1 0.151975683890578 477 392 45.0574712643678 267 65 19.578313253012 15 98375729 98375729 G T SNP ENSG00000251209 ENST00000503768 human ensembl 70_37 -1 known intronic c.333+41454 e1+41454 0.000 - - - no_errors RP11-82I10.1 Clone_based_vega_gene ENSG00000251209 tier4 359 0 0 435 2 0.45766590389016 167 2 1.18343195266272 15 98652997 98652997 T A SNP ENSG00000259199 ENST00000560360 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors CTD-2544M6.1 Clone_based_vega_gene ENSG00000259199 tier3 565 0 0 369 296 44.5112781954887 247 50 16.8350168350168 15 99230278 99230278 G C SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known intronic c.95-20513 e2-20513 0.002 - - - no_errors IGF1R HGNC ENSG00000140443 tier3 1700 1 0.0587199060481503 1321 1195 47.4960254372019 631 121 15.8376963350785 15 99274064 99274064 C T SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known intronic c.640+22728 e2+22728 0.000 - - - no_errors IGF1R HGNC ENSG00000140443 tier3 1051 0 0 1504 7 0.46265697290152 494 0 0 15 99628784 99628784 T G SNP ENSG00000259475 ENST00000559468 human ensembl 70_37 -1 known intronic c.NULL NULL 0.002 - - - no_errors RP11-654A16.3 Clone_based_vega_gene ENSG00000259475 tier3 614 0 0 862 2 0.23094688221709 289 3 1.02739726027397 15 101408867 101408867 A C SNP LOC145757 ENST00000558475 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-66B24.1 Clone_based_vega_gene ENSG00000259604 tier3 1058 0 0 1315 4 0.302800908402725 430 0 0 15 102148051 102148051 C T SNP ENSG00000259695 ENST00000560214 human ensembl 70_37 -1 known 5_prime_flanking_region c.-26292 NULL 0.009 - - - no_coding_region:pseudogene RP11-14C10.2 Clone_based_vega_gene ENSG00000259695 tier4 686 1 0.145560407569141 692 357 34 284 0 0 16 807868 807868 G T SNP MSLN ENST00000446427 human ensembl 70_37 +1 known intronic c.1-4764 e1-4764 0.015 - - - no_errors MSLN HGNC ENSG00000102854 tier4 443 0 0 685 3 0.436046511627907 273 4 1.44404332129964 16 1235461 1235461 C T SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known intronic c.300-9511 e2-9511 0.343 - - - no_errors CACNA1H HGNC ENSG00000196557 tier2 85 0 0 97 36 27.0676691729323 48 0 0 16 1450051 1450051 T G SNP UNKL ENST00000397462 human ensembl 70_37 -1 known intronic c.860-493 e7-493 0.000 - - - no_errors UNKL HGNC ENSG00000059145 tier4 615 0 0 912 1 0.109289617486339 368 2 0.540540540540541 16 3283063 3283063 C A SNP ZNF200 ENST00000414144 human ensembl 70_37 -1 known intronic c.251-142 e2-142 0.021 - - - no_errors ZNF200 HGNC ENSG00000010539 tier3 258 0 0 431 5 1.14678899082569 136 0 0 16 3587348 3587348 C T SNP CLUAP1 ENST00000576634 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*1077 NULL 0.000 - - - no_errors CLUAP1 HGNC ENSG00000103351 tier4 1901 0 0 2978 2 0.0670016750418761 758 2 0.26246719160105 16 4493687 4493687 T C SNP DNAJA3 ENST00000262375 human ensembl 70_37 +1 known intronic c.931+522 e6+522 0.000 - - - no_errors DNAJA3 HGNC ENSG00000103423 tier4 672 0 0 1026 5 0.484966052376334 527 0 0 16 4549506 4549506 A G SNP HMOX2 ENST00000219700 human ensembl 70_37 +1 known intronic c.1-5979 e1-5979 0.003 - - - no_errors HMOX2 HGNC ENSG00000103415 tier4 480 0 0 851 2 0.234192037470726 357 0 0 16 5404739 5404739 C T SNP LOC100287538 ENST00000569895 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-420N3.2 Clone_based_vega_gene ENSG00000260411 tier3 625 1 0.159744408945687 845 14 1.62980209545984 288 57 16.5217391304348 16 6095775 6095775 A G SNP RBFOX1 ENST00000547372 human ensembl 70_37 +1 known intronic c.3+25873 e1+25873 0.001 - - - no_errors RBFOX1 HGNC ENSG00000078328 tier4 1047 0 0 708 547 43.5509554140127 447 73 14.0384615384615 16 6212463 6212463 A T SNP RBFOX1 ENST00000547372 human ensembl 70_37 +1 known intronic c.3+142561 e1+142561 0.000 - - - no_errors RBFOX1 HGNC ENSG00000078328 tier3 707 0 0 881 2 0.226244343891403 335 2 0.586510263929619 16 7840098 7840098 T G SNP - - - - - - - - - - - - - - - - - - tier3 1714 0 0 2165 2 0.0922934933087217 627 2 0.316957210776545 16 7861320 7861320 A C SNP - - - - - - - - - - - - - - - - - - tier4 837 0 0 1105 3 0.270513976555455 283 4 1.39372822299652 16 7928629 7928629 C T SNP ENSG00000260289 ENST00000567103 human ensembl 70_37 -1 putative 3_prime_flanking_region c.*9862 NULL 0.032 - - - no_errors CTD-2535I10.1 Clone_based_vega_gene ENSG00000260289 tier3 1184 1 0.0843881856540084 1389 177 11.3026819923372 656 0 0 16 8533440 8533440 A C SNP ENSG00000260379 ENST00000567734 human ensembl 70_37 +1 known 5_prime_flanking_region c.-24631 NULL 0.994 - - - no_coding_region:pseudogene RP11-483K5.2 Clone_based_vega_gene ENSG00000260379 tier3 1485 0 0 1976 2 0.101112234580384 641 5 0.770416024653313 16 10848450 10848450 T C SNP NUBP1 ENST00000283027 human ensembl 70_37 +1 known intronic c.328-1128 e5-1128 0.001 - - - no_errors NUBP1 HGNC ENSG00000103274 tier4 651 0 0 489 396 44.7457627118644 361 58 13.8424821002387 16 11036927 11036927 A G SNP CLEC16A ENST00000409790 human ensembl 70_37 +1 known 5_prime_flanking_region c.-1648 NULL 0.003 - - - no_errors CLEC16A HGNC ENSG00000038532 tier2 1426 0 0 1509 626 29.3071161048689 684 0 0 16 11405185 11405185 A G SNP RMI2 ENST00000572173 human ensembl 70_37 +1 known intronic c.1-1501 e1-1501 0.282 - - - no_errors RMI2 HGNC ENSG00000175643 tier4 280 0 0 420 2 0.4739336492891 179 0 0 16 11434500 11434500 A C SNP RMI2 ENST00000381820 human ensembl 70_37 +1 known intronic c.107-9999 e2-9999 0.069 - - - no_errors RMI2 HGNC ENSG00000175643 tier4 514 0 0 803 2 0.248447204968944 225 0 0 16 12334886 12334886 C T SNP SNX29 ENST00000306030 human ensembl 70_37 +1 known intronic c.524-36904 e7-36904 0.000 - - - no_errors SNX29 HGNC ENSG00000048471 tier3 1055 1 0.0946969696969697 750 549 42.1983089930822 430 122 22.0216606498195 16 12840534 12840534 A C SNP CPPED1 ENST00000381774 human ensembl 70_37 -1 known intronic c.289+34508 e2+34508 0.011 - - - no_errors CPPED1 HGNC ENSG00000103381 tier4 1249 0 0 1767 1 0.0565291124929339 666 4 0.595238095238095 16 13076092 13076092 G T SNP SHISA9 ENST00000558583 human ensembl 70_37 +1 known intronic c.814+65420 e2+65420 0.000 - - - no_errors SHISA9 HGNC ENSG00000237515 tier4 253 0 0 357 3 0.833333333333333 158 0 0 16 13461460 13461460 T C SNP ENSG00000262801 ENST00000571619 human ensembl 70_37 +1 known intronic c.NULL NULL 0.011 - - - no_errors U91319.1 Clone_based_vega_gene ENSG00000262801 tier3 557 0 0 401 285 41.4847161572052 232 46 16.5467625899281 16 13753898 13753898 A C SNP - - - - - - - - - - - - - - - - - - tier4 795 0 0 1109 2 0.18001800180018 422 5 1.17096018735363 16 13849092 13849092 G C SNP ENSG00000262267 ENST00000573369 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors U95743.1 Clone_based_vega_gene ENSG00000262267 tier4 584 0 0 717 2 0.277777777777778 352 1 0.28328611898017 16 14538517 14538517 A C SNP PARN ENST00000437198 human ensembl 70_37 -1 known intronic c.1864+2228 e23+2228 0.000 - - - no_errors PARN HGNC ENSG00000140694 tier3 1165 0 0 1874 2 0.106496272630458 520 6 1.14068441064639 16 15960368 15960368 A T SNP FOPNL ENST00000255759 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*929 NULL 0.007 - - - no_errors FOPNL HGNC ENSG00000133393 tier3 1268 0 0 1033 762 42.4512534818942 577 143 19.8611111111111 16 17054220 17054220 T G SNP ENSG00000261748 ENST00000564217 human ensembl 70_37 -1 known 5_prime_flanking_region c.-6895 NULL 0.537 - - - no_coding_region:pseudogene RP11-419L9.1 Clone_based_vega_gene ENSG00000261748 tier4 667 0 0 943 2 0.211640211640212 374 3 0.795755968169761 16 17265229 17265229 A C SNP XYLT1 ENST00000261381 human ensembl 70_37 -1 known intronic c.1290-12463 e6-12463 0.000 - - - no_errors XYLT1 HGNC ENSG00000103489 tier3 404 0 0 612 2 0.325732899022801 252 2 0.78740157480315 16 17690174 17690174 T G SNP - - - - - - - - - - - - - - - - - - tier4 1294 0 0 1789 2 0.111669458403127 579 0 0 16 19497468 19497468 T G SNP TMC5 ENST00000396229 human ensembl 70_37 +1 known intronic c.2364-799 e14-799 0.000 - - - no_errors TMC5 HGNC ENSG00000103534 tier4 768 0 0 1101 2 0.180995475113122 370 0 0 16 20180127 20180127 G A SNP ENSG00000263253 ENST00000570859 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40120 NULL 0.003 - - - no_errors RP11-204E4.3 Clone_based_vega_gene ENSG00000263253 tier4 442 1 0.225733634311512 322 244 43.1095406360424 235 46 16.3701067615658 16 21718473 21718473 A C SNP OTOA ENST00000286149 human ensembl 70_37 +1 known intronic c.1146+1860 e11+1860 0.001 - - - no_errors OTOA HGNC ENSG00000155719 tier4 505 0 0 837 2 0.238379022646007 294 0 0 16 22803772 22803772 T G SNP HS3ST2 ENST00000261374 human ensembl 70_37 +1 known 5_prime_flanking_region c.-22160 NULL 0.000 - - - no_errors HS3ST2 HGNC ENSG00000122254 tier4 1091 0 0 1473 2 0.13550135501355 505 1 0.196463654223969 16 23489688 23489688 C T SNP GGA2 ENST00000309859 human ensembl 70_37 -1 known splice_site c.1292+1 e13+1 0.975 - - - no_errors GGA2 HGNC ENSG00000103365 tier1 629 2 0.316957210776545 508 386 43.1767337807606 282 51 15.3153153153153 16 23489688 23489688 C T SNP GGA2 ENST00000309859 human ensembl 70_37 -1 known splice_site c.1292+1 e13+1 0.975 - - - no_errors GGA2 HGNC ENSG00000103365 tier1 922 2 0.216450216450216 621 484 43.8009049773756 529 116 17.984496124031 16 23951586 23951586 G T SNP PRKCB ENST00000303531 human ensembl 70_37 +1 known intronic c.206-48243 e3-48243 0.001 - - - no_errors PRKCB HGNC ENSG00000166501 tier4 399 0 0 704 2 0.28328611898017 277 0 0 16 23956680 23956680 T C SNP PRKCB ENST00000303531 human ensembl 70_37 +1 known intronic c.206-43149 e3-43149 0.015 - - - no_errors PRKCB HGNC ENSG00000166501 tier3 848 0 0 1253 3 0.238663484486874 398 2 0.498753117206983 16 24682222 24682222 T C SNP FLJ45256 ENST00000414816 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors AC012317.1 Clone_based_vega_gene ENSG00000224310 tier3 624 0 0 865 4 0.46029919447641 334 0 0 16 25080210 25080210 A C SNP LOC283887 ENST00000571219 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-266L9.5 Clone_based_vega_gene ENSG00000262155 tier1 369 0 0 557 2 0.357142857142857 181 0 0 16 25080214 25080214 A C SNP LOC283887 ENST00000571219 human ensembl 70_37 +1 known rna NULL NULL 0.017 - - - no_errors RP11-266L9.5 Clone_based_vega_gene ENSG00000262155 tier1 364 0 0 577 2 0.345423143350604 194 1 0.512820512820513 16 25662939 25662939 T C SNP HS3ST4 ENST00000331351 human ensembl 70_37 +1 known 5_prime_flanking_region c.-40800 NULL 0.000 - - - no_errors HS3ST4 HGNC ENSG00000182601 tier3 675 0 0 976 1 0.102249488752556 335 2 0.593471810089021 16 25958789 25958789 C T SNP HS3ST4 ENST00000331351 human ensembl 70_37 +1 known intronic c.735-188144 e2-188144 0.000 - - - no_errors HS3ST4 HGNC ENSG00000182601 tier3 470 0 0 335 270 44.6280991735537 267 54 16.8224299065421 16 26813454 26813454 C G SNP - - - - - - - - - - - - - - - - - - tier4 1414 0 0 1955 2 0.102145045965271 628 0 0 16 26964707 26964707 T G SNP - - - - - - - - - - - - - - - - - - tier3 953 0 0 1292 1 0.0773395204949729 405 3 0.728155339805825 16 27174479 27174479 C A SNP ENSG00000261045 ENST00000564381 human ensembl 70_37 -1 known intronic c.NULL NULL 0.040 - - - no_errors RP11-673P17.4 Clone_based_vega_gene ENSG00000261045 tier4 592 0 0 821 4 0.484848484848485 278 2 0.714285714285714 16 28024717 28024717 G C SNP GSG1L ENST00000447459 human ensembl 70_37 -1 known intronic c.349+49680 e1+49680 0.275 - - - no_errors GSG1L HGNC ENSG00000169181 tier4 336 0 0 615 2 0.324149108589951 204 2 0.970873786407767 16 29592723 29592723 A T SNP ENSG00000205534 ENST00000447140 human ensembl 70_37 -1 known intronic c.NULL NULL 0.012 - - - no_coding_region:pseudogene RP11-345J4.8 Clone_based_vega_gene ENSG00000205534 tier4 1866 0 0 1562 1206 43.5693641618497 695 111 13.7717121588089 16 30749594 30749594 A G SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.8233 p.K2745E 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 tier1 319 0 0 289 0 0 287 9 3.04 16 31584513 31584513 T C SNP ENSG00000261741 ENST00000565692 human ensembl 70_37 -1 known 5_prime_flanking_region c.-5476 NULL 0.013 - - - no_errors CTD-2014E2.5 Clone_based_vega_gene ENSG00000261741 tier4 772 0 0 922 144 13.5084427767355 414 0 0 16 32109490 32109490 G T SNP ENSG00000261727 ENST00000566806 human ensembl 70_37 -1 known 5_prime_flanking_region c.-13384 NULL 0.056 - - - no_errors RP11-1166P10.6 Clone_based_vega_gene ENSG00000261727 tier3 125 0 0 182 3 1.62162162162162 134 2 1.47058823529412 16 32523402 32523402 T A SNP ABCD1P3 ENST00000562927 human ensembl 70_37 -1 known 5_prime_flanking_region c.-33830 NULL 0.000 - - - no_coding_region:pseudogene ABCD1P3 HGNC ENSG00000261233 tier4 3479 0 0 4675 4 0.0854883522120111 1346 2 0.148367952522255 16 32819665 32819665 A C SNP ENSG00000260158 ENST00000569859 human ensembl 70_37 +1 known 5_prime_flanking_region c.-1212 NULL 0.255 - - - no_errors RP11-67H24.2 Clone_based_vega_gene ENSG00000260158 tier3 2375 0 0 3135 1 0.0318877551020408 1272 2 0.156494522691706 16 33074096 33074096 T G SNP ENSG00000260141 ENST00000561541 human ensembl 70_37 -1 known intronic c.NULL NULL 0.121 - - - no_errors RP11-19N8.4 Clone_based_vega_gene ENSG00000260141 tier3 1126 0 0 1522 4 0.261951538965291 532 2 0.374531835205993 16 33335803 33335803 C T SNP ENSG00000263277 ENST00000570636 human ensembl 70_37 +1 known 5_prime_flanking_region c.-44159 NULL 0.003 - - - no_coding_region:pseudogene RP11-293B20.3 Clone_based_vega_gene ENSG00000263277 tier3 202 0 0 224 6 2.60869565217391 131 4 2.96296296296296 16 33940266 33940266 T C SNP RNA5-8SP2 ENST00000363564 human ensembl 70_37 +1 known 5_prime_flanking_region c.-25160 NULL 0.295 - - - no_errors RNA5-8SP2 HGNC ENSG00000200434 tier3 1140 0 0 1542 3 0.194174757281553 774 0 0 16 33969485 33969485 T G SNP ENSG00000260609 ENST00000567668 human ensembl 70_37 -1 known 5_prime_flanking_region c.-12370 NULL 0.006 - - - no_errors LINC00273 Clone_based_vega_gene ENSG00000260609 tier4 866 0 0 1133 2 0.176056338028169 572 2 0.347222222222222 16 33972709 33972709 G A SNP ENSG00000260609 ENST00000567668 human ensembl 70_37 -1 known 5_prime_flanking_region c.-15594 NULL 0.000 - - - no_errors LINC00273 Clone_based_vega_gene ENSG00000260609 tier4 2264 0 0 2977 2 0.0671366230278617 1265 2 0.157109190887667 16 33974527 33974527 G A SNP ENSG00000260609 ENST00000567668 human ensembl 70_37 -1 known 5_prime_flanking_region c.-17412 NULL 0.000 - - - no_errors LINC00273 Clone_based_vega_gene ENSG00000260609 tier4 2188 0 0 2749 2 0.072463768115942 1287 8 0.615384615384615 16 33985371 33985371 G T SNP ENSG00000260609 ENST00000567668 human ensembl 70_37 -1 known 5_prime_flanking_region c.-28256 NULL 0.000 - - - no_errors LINC00273 Clone_based_vega_gene ENSG00000260609 tier4 1161 0 0 1508 2 0.132450331125828 702 7 0.987306064880113 16 34649493 34649493 G A SNP ENSG00000260598 ENST00000563581 human ensembl 70_37 -1 known 5_prime_flanking_region c.-7773 NULL 0.015 - - - no_coding_region:pseudogene RP11-80F22.13 Clone_based_vega_gene ENSG00000260598 tier3 802 0 0 892 12 1.32596685082873 291 46 13.4110787172012 16 35228846 35228846 T G SNP - - - - - - - - - - - - - - - - - - tier4 548 0 0 714 2 0.279329608938547 219 0 0 16 35238866 35238866 A T SNP - - - - - - - - - - - - - - - - - - tier4 241 0 0 353 3 0.842696629213483 23 0 0 16 35239753 35239753 G A SNP - - - - - - - - - - - - - - - - - - tier4 1322 0 0 1754 3 0.170648464163823 687 2 0.289435600578871 16 35250139 35250139 A T SNP - - - - - - - - - - - - - - - - - - tier4 3868 0 0 4823 2 0.0414250207125104 1489 2 0.134138162307176 16 35250265 35250265 A C SNP - - - - - - - - - - - - - - - - - - tier4 2317 0 0 2815 2 0.07097232079489 874 0 0 16 46390203 46390203 T C SNP - - - - - - - - - - - - - - - - - - tier4 1395 0 0 1944 2 0.102669404517454 971 0 0 16 46397818 46397818 T C SNP - - - - - - - - - - - - - - - - - - tier4 1579 0 0 2032 2 0.0982318271119843 874 0 0 16 46400132 46400132 T A SNP - - - - - - - - - - - - - - - - - - tier4 1736 0 0 2427 3 0.123456790123457 1166 2 0.171232876712329 16 46426544 46426544 T A SNP - - - - - - - - - - - - - - - - - - tier4 421 0 0 594 4 0.668896321070234 252 2 0.78740157480315 16 46426550 46426550 C T SNP - - - - - - - - - - - - - - - - - - tier4 352 0 0 500 4 0.793650793650794 216 2 0.892857142857143 16 46435878 46435878 T A SNP - - - - - - - - - - - - - - - - - - tier4 116 0 0 141 2 1.3986013986014 32 0 0 16 46453848 46453848 G A SNP ANKRD26P1 ENST00000566933 human ensembl 70_37 -1 known 3_prime_flanking_region c.*49726 NULL 0.000 - - - no_errors ANKRD26P1 HGNC ENSG00000261239 tier4 346 0 0 501 6 1.18110236220472 201 4 1.95121951219512 16 47099403 47099403 T G SNP NETO2 ENST00000562435 human ensembl 70_37 -1 known 3_prime_flanking_region c.*17729 NULL 0.000 - - - no_errors NETO2 HGNC ENSG00000171208 tier4 971 0 0 1211 93 7.1319018404908 464 0 0 16 49745165 49745165 G A SNP ZNF423 ENST00000262383 human ensembl 70_37 -1 known intronic c.277+19517 e3+19517 0.000 - - - no_errors ZNF423 HGNC ENSG00000102935 tier4 1625 1 0.0614250614250614 1121 862 43.4256926952141 503 125 19.8098256735341 16 50651203 50651203 T C SNP NKD1 ENST00000268459 human ensembl 70_37 +1 known intronic c.260-4310 e5-4310 0.000 - - - no_errors NKD1 HGNC ENSG00000140807 tier3 1078 0 0 1438 2 0.138792505204719 604 0 0 16 51494444 51494444 T G SNP - - - - - - - - - - - - - - - - - - tier3 958 0 0 1274 2 0.156739811912226 420 0 0 16 51761105 51761105 G A SNP ENSG00000260057 ENST00000563603 human ensembl 70_37 +1 known 5_prime_flanking_region c.-44369 NULL 0.001 - - - no_errors RP11-7O14.1 Clone_based_vega_gene ENSG00000260057 tier4 1150 0 0 835 624 42.7690198766278 510 102 16.6666666666667 16 52587597 52587597 C T SNP LOC643714 ENST00000510238 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-297L17.1 Clone_based_vega_gene ENSG00000249231 tier3 1618 5 0.307881773399015 1054 822 43.816631130064 619 109 14.9725274725275 16 52733588 52733588 C T SNP LOC643714 ENST00000563844 human ensembl 70_37 -1 known 5_prime_flanking_region c.-47571 NULL 0.023 - - - no_errors RP11-297L17.1 Clone_based_vega_gene ENSG00000249231 tier4 1885 6 0.317124735729387 1338 1153 46.2866318747491 448 107 19.2792792792793 16 52865949 52865949 A T SNP - - - - - - - - - - - - - - - - - - tier3 1068 2 0.186741363211951 748 682 47.6589797344514 393 88 18.2952182952183 16 53026500 53026500 A G SNP ENSG00000261550 ENST00000562178 human ensembl 70_37 -1 known 3_prime_flanking_region c.*43102 NULL 0.005 - - - no_errors RP11-467J12.4 Clone_based_vega_gene ENSG00000261550 tier4 69 0 0 98 8 7.54716981132075 34 0 0 16 54691799 54691799 G A SNP - - - - - - - - - - - - - - - - - - tier3 783 0 0 979 34 3.3563672260612 398 2 0.492610837438424 16 55625892 55625892 G A SNP LPCAT2 ENST00000262134 human ensembl 70_37 +1 known 3_prime_flanking_region c.*8882 NULL 0.020 - - - no_errors LPCAT2 HGNC ENSG00000087253 tier4 906 1 0.110132158590308 1131 23 1.99306759098787 440 0 0 16 57495474 57495474 T G SNP ENSG00000260345 ENST00000567090 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors AC009052.12 Clone_based_vega_gene ENSG00000260345 tier3 509 0 0 713 1 0.140056022408964 316 2 0.628930817610063 16 57512511 57512511 G A SNP DOK4 ENST00000561918 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors DOK4 HGNC ENSG00000125170 tier1 342 0 0 456 31 6.36550308008214 199 0 0 16 58287320 58287320 T A SNP CCDC113 ENST00000219299 human ensembl 70_37 +1 known intronic c.228+563 e2+563 0.002 - - - no_errors CCDC113 HGNC ENSG00000103021 tier3 947 0 0 1198 18 1.48026315789474 423 94 18.1818181818182 16 58588016 58588016 C G SNP CNOT1 ENST00000317147 human ensembl 70_37 -1 known intronic c.2892-252 e21-252 0.000 - - - no_errors CNOT1 HGNC ENSG00000125107 tier3 1200 0 0 1793 5 0.278086763070078 495 0 0 16 60157617 60157617 G A SNP - - - - - - - - - - - - - - - - - - tier3 1366 0 0 1596 219 12.0528343423225 646 0 0 16 60197182 60197182 C A SNP - - - - - - - - - - - - - - - - - - tier3 1076 0 0 1393 3 0.214285714285714 376 3 0.78740157480315 16 60533816 60533816 T A SNP ENSG00000261310 ENST00000567862 human ensembl 70_37 -1 known intronic c.NULL NULL 0.008 - - - no_errors RP11-354I13.1 Clone_based_vega_gene ENSG00000261310 tier4 2473 0 0 3334 2 0.0599520383693046 871 2 0.228571428571429 16 60946919 60946919 A T SNP ENSG00000261178 ENST00000563784 human ensembl 70_37 -1 known 3_prime_flanking_region c.*12718 NULL 0.917 - - - no_coding_region:pseudogene RP11-90K18.1 Clone_based_vega_gene ENSG00000261178 tier3 1376 0 0 1726 3 0.173410404624277 699 0 0 16 60990693 60990693 C A SNP ENSG00000261178 ENST00000563784 human ensembl 70_37 -1 known 5_prime_flanking_region c.-28248 NULL 0.001 - - - no_coding_region:pseudogene RP11-90K18.1 Clone_based_vega_gene ENSG00000261178 tier3 864 0 0 559 417 42.7254098360656 391 115 22.5490196078431 16 61079427 61079427 G T SNP ENSG00000224631 ENST00000591758 human ensembl 70_37 -1 known 3_prime_flanking_region c.*9876 NULL 0.039 - - - no_errors RP11-51O6.1 Clone_based_vega_gene ENSG00000224631 tier3 1944 0 0 2585 2 0.0772797527047913 745 4 0.534045393858478 16 61301251 61301251 G C SNP - - - - - - - - - - - - - - - - - - tier3 817 0 0 496 397 44.4568868980963 308 68 18.0851063829787 16 61484902 61484902 T A SNP - - - - - - - - - - - - - - - - - - tier3 950 0 0 632 433 40.6572769953052 399 112 21.875 16 61523493 61523493 T G SNP - - - - - - - - - - - - - - - - - - tier3 774 0 0 908 3 0.329308452250274 334 0 0 16 61691937 61691937 A C SNP CDH8 ENST00000577390 human ensembl 70_37 -1 known intronic c.1655-2312 e10-2312 0.000 - - - no_errors CDH8 HGNC ENSG00000150394 tier3 682 0 0 880 2 0.226500566251416 326 3 0.911854103343465 16 62001372 62001372 C A SNP CDH8 ENST00000577390 human ensembl 70_37 -1 known intronic c.252+53684 e1+53684 0.007 - - - no_errors CDH8 HGNC ENSG00000150394 tier4 1407 0 0 1865 2 0.107123727905731 584 8 1.35135135135135 16 62019030 62019030 C T SNP CDH8 ENST00000577390 human ensembl 70_37 -1 known intronic c.252+36026 e1+36026 0.005 - - - no_errors CDH8 HGNC ENSG00000150394 tier3 876 5 0.565610859728507 1107 17 1.50044130626655 376 19 4.81012658227848 16 62202518 62202518 A G SNP RNU6-21 ENST00000384710 human ensembl 70_37 -1 known 3_prime_flanking_region c.*18926 NULL 0.125 - - - no_errors RNU6-21 HGNC ENSG00000207441 tier4 1121 0 0 759 696 47.8350515463918 390 133 25.4302103250478 16 62683776 62683776 C T SNP - - - - - - - - - - - - - - - - - - tier4 338 0 0 283 182 39.1397849462366 186 69 27.0588235294118 16 63215812 63215812 G A SNP ENSG00000261199 ENST00000566646 human ensembl 70_37 -1 known 5_prime_flanking_region c.-837 NULL 0.022 - - - no_coding_region:pseudogene CTD-2503H21.2 Clone_based_vega_gene ENSG00000261199 tier4 1294 2 0.153964588144727 810 697 46.2508294625083 512 88 14.4736842105263 16 63559425 63559425 G T SNP ENSG00000260658 ENST00000568932 human ensembl 70_37 -1 known intronic c.NULL NULL 0.110 - - - no_errors RP11-368L12.1 Clone_based_vega_gene ENSG00000260658 tier4 1060 0 0 1278 89 6.50584795321637 555 2 0.35778175313059 16 63965421 63965421 C A SNP ENSG00000261653 ENST00000568699 human ensembl 70_37 +1 known 5_prime_flanking_region c.-4261 NULL 0.308 - - - no_errors RP11-21L1.1 Clone_based_vega_gene ENSG00000261653 tier4 688 1 0.144927536231884 473 420 47.0324748040314 380 95 20 16 64022947 64022947 T G SNP - - - - - - - - - - - - - - - - - - tier3 908 2 0.21953896816685 1105 6 0.54005400540054 347 9 2.52808988764045 16 64854464 64854464 C T SNP - - - - - - - - - - - - - - - - - - tier3 685 1 0.145772594752187 462 370 44.4711538461538 299 84 21.9321148825065 16 65252035 65252035 G A SNP ENSG00000260834 ENST00000567058 human ensembl 70_37 -1 known intronic c.NULL NULL 0.960 - - - no_errors RP11-256I9.2 Clone_based_vega_gene ENSG00000260834 tier3 1057 0 0 1283 19 1.45929339477727 453 83 15.4850746268657 16 65426402 65426402 A C SNP ENSG00000260364 ENST00000562656 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-256I9.3 Clone_based_vega_gene ENSG00000260364 tier4 1570 0 0 1993 3 0.150300601202405 660 0 0 16 65543417 65543417 G T SNP LOC283867 ENST00000564041 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-256I9.1 Clone_based_vega_gene ENSG00000261742 tier4 831 0 0 577 478 45.2651515151515 380 93 19.661733615222 16 65743234 65743234 C T SNP - - - - - - - - - - - - - - - - - - tier3 524 0 0 318 284 47.1760797342193 192 59 23.1372549019608 16 66738682 66738682 T G SNP CMTM4 ENST00000330687 human ensembl 70_37 -1 known 5_prime_flanking_region c.-8254 NULL 0.000 - - - no_errors CMTM4 HGNC ENSG00000183723 tier3 580 0 0 900 2 0.221729490022173 295 0 0 16 67066632 67066632 T G SNP CBFB ENST00000290858 human ensembl 70_37 +1 known intronic c.165+2916 e2+2916 0.000 - - - no_errors CBFB HGNC ENSG00000067955 tier3 721 0 0 1255 2 0.159108989657916 488 2 0.408163265306122 16 67526638 67526638 A G SNP FAM65A ENST00000422602 human ensembl 70_37 +1 known 5_prime_flanking_region c.-37088 NULL 0.001 - - - no_errors FAM65A HGNC ENSG00000039523 tier4 2318 5 0.215238915195867 2696 1099 28.9515279241307 1106 1 0.0903342366757001 16 71323162 71323162 G A SNP FTSJD1 ENST00000434935 human ensembl 70_37 -1 known 5_prime_untranslated_region c.-3339 NULL 0.000 - - - no_errors FTSJD1 HGNC ENSG00000180917 tier2 161 0 0 200 19 8.67579908675799 82 0 0 16 72273105 72273105 A C SNP ENSG00000261673 ENST00000563347 human ensembl 70_37 -1 known 5_prime_flanking_region c.-14062 NULL 0.064 - - - no_errors RP11-328J14.1 Clone_based_vega_gene ENSG00000261673 tier3 566 0 0 842 2 0.236686390532544 263 0 0 16 73015403 73015403 A C SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known intronic c.1-21310 e1-21310 0.000 - - - no_errors ZFHX3 HGNC ENSG00000140836 tier3 972 0 0 1479 4 0.269360269360269 494 0 0 16 73634911 73634911 T A SNP ENSG00000260848 ENST00000567227 human ensembl 70_37 +1 known 3_prime_flanking_region c.*42490 NULL 0.000 - - - no_errors CTD-2009A10.1 Clone_based_vega_gene ENSG00000260848 tier3 562 0 0 787 4 0.503778337531486 273 0 0 16 74266982 74266982 T G SNP ENSG00000261404 ENST00000562888 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors AC009120.4 Clone_based_vega_gene ENSG00000261404 tier3 839 0 0 1280 3 0.233826968043648 335 1 0.29585798816568 16 75963419 75963419 T C SNP - - - - - - - - - - - - - - - - - - tier4 733 0 0 872 1 0.11454753722795 342 2 0.581395348837209 16 77002576 77002576 T C SNP ENSG00000259995 ENST00000567777 human ensembl 70_37 +1 known 3_prime_flanking_region c.*40510 NULL 0.022 - - - no_errors CTD-2336H13.2 Clone_based_vega_gene ENSG00000259995 tier3 1400 1 0.0713266761768902 1527 180 10.5386416861827 623 0 0 16 77350894 77350894 G A SNP ADAMTS18 ENST00000282849 human ensembl 70_37 -1 known intronic c.2532+2852 e16+2852 0.001 - - - no_errors ADAMTS18 HGNC ENSG00000140873 tier4 916 0 0 607 439 41.8893129770992 445 40 8.14663951120163 16 77545742 77545742 G A SNP - - - - - - - - - - - - - - - - - - tier4 1215 1 0.0822368421052632 865 749 46.4064436183395 484 147 23.1496062992126 16 77580872 77580872 T C SNP ENSG00000261154 ENST00000563289 human ensembl 70_37 +1 known 5_prime_flanking_region c.-43831 NULL 0.005 - - - no_errors RP11-571O6.1 Clone_based_vega_gene ENSG00000261154 tier3 793 0 0 1095 2 0.182315405651778 384 1 0.25974025974026 16 77609874 77609874 T G SNP ENSG00000261154 ENST00000563289 human ensembl 70_37 +1 known 5_prime_flanking_region c.-14829 NULL 0.000 - - - no_errors RP11-571O6.1 Clone_based_vega_gene ENSG00000261154 tier4 490 0 0 660 2 0.301204819277108 304 0 0 16 78492529 78492529 A C SNP WWOX ENST00000566780 human ensembl 70_37 +1 known intronic c.1056+25880 e8+25880 0.000 - - - no_errors WWOX HGNC ENSG00000186153 tier4 1707 0 0 2284 1 0.0437636761487965 705 4 0.564174894217207 16 78873723 78873723 C T SNP WWOX ENST00000566780 human ensembl 70_37 +1 known intronic c.1057-371782 e9-371782 0.000 - - - no_errors WWOX HGNC ENSG00000186153 tier3 1663 0 0 2285 21 0.910667823070251 540 94 14.6875 16 79016058 79016058 T A SNP WWOX ENST00000566780 human ensembl 70_37 +1 known intronic c.1057-229447 e9-229447 0.000 - - - no_errors WWOX HGNC ENSG00000186153 tier3 714 0 0 870 3 0.342465753424658 372 2 0.53475935828877 16 79332185 79332185 A C SNP RNA5SP431 ENST00000410312 human ensembl 70_37 +1 known 3_prime_flanking_region c.*33715 NULL 0.000 - - - no_errors RNA5SP431 HGNC ENSG00000222244 tier4 784 0 0 1023 3 0.292397660818713 386 1 0.258397932816537 16 79785388 79785388 G T SNP ENSG00000260876 ENST00000561510 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-345M22.1 Clone_based_vega_gene ENSG00000260876 tier3 644 0 0 884 3 0.337837837837838 345 0 0 16 82622734 82622734 C T SNP CDH13 ENST00000566620 human ensembl 70_37 +1 known 5_prime_flanking_region c.-37964 NULL 0.028 - - - no_errors CDH13 HGNC ENSG00000140945 tier4 891 1 0.112107623318386 616 599 49.2598684210526 187 40 17.6211453744493 16 83421458 83421458 A G SNP CDH13 ENST00000566620 human ensembl 70_37 +1 known intronic c.781+42847 e6+42847 0.000 - - - no_errors CDH13 HGNC ENSG00000140945 tier3 720 0 0 521 413 44.2184154175589 343 58 14.4638403990025 16 83546500 83546500 A C SNP CDH13 ENST00000566620 human ensembl 70_37 +1 known intronic c.960+26240 e7+26240 0.001 - - - no_errors CDH13 HGNC ENSG00000140945 tier4 1020 0 0 1418 2 0.140845070422535 432 3 0.689655172413793 16 86260203 86260203 A G SNP ENSG00000268754 ENST00000597373 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-514D23.2 Clone_based_vega_gene ENSG00000268754 tier3 345 0 0 411 2 0.484261501210654 191 0 0 16 86383486 86383486 C T SNP LOC732275 ENST00000304488 human ensembl 70_37 -1 known 5_prime_flanking_region c.-4201 NULL 0.001 - - - no_errors RP11-158I3.2 Clone_based_vega_gene ENSG00000168367 tier3 1170 0 0 722 648 47.2992700729927 576 75 11.4854517611026 16 86786869 86786869 A C SNP ENSG00000260026 ENST00000563331 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31309 NULL 0.000 - - - no_errors CTD-2015G9.1 Clone_based_vega_gene ENSG00000260026 tier3 548 0 0 665 3 0.448430493273543 298 1 0.334448160535117 16 87696031 87696031 A G SNP JPH3 ENST00000284262 human ensembl 70_37 +1 known intronic c.1160+17390 e2+17390 0.091 - - - no_errors JPH3 HGNC ENSG00000154118 tier3 744 0 0 1082 3 0.271985494106981 411 0 0 16 88310228 88310228 G A SNP ENSG00000261273 ENST00000563190 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors LA16c-444G7.1 Clone_based_vega_gene ENSG00000261273 tier2 425 0 0 311 276 46.9387755102041 257 37 12.5850340136054 16 89793742 89793742 C T SNP ZNF276 ENST00000443381 human ensembl 70_37 +1 known silent c.1062 p.D354 1.000 NULL pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF276 HGNC ENSG00000158805 tier1 1259 0 0 2018 3 0.148367952522255 576 94 13.946587537092 17 3142038 3142038 A C SNP OR1D4 ENST00000531680 human ensembl 70_37 +1 known 5_prime_flanking_region c.-1932 NULL 0.014 - - - no_errors OR1D4 HGNC ENSG00000255095 tier2 1175 0 0 1588 2 0.125786163522013 607 0 0 17 3603220 3603220 G A SNP GSG2 ENST00000325418 human ensembl 70_37 +1 known 5_prime_flanking_region c.-24010 NULL 0.018 - - - no_errors GSG2 HGNC ENSG00000177602 tier4 78 0 0 116 3 2.52100840336134 40 0 0 17 5147063 5147063 G A SNP LOC100130950 ENST00000573772 human ensembl 70_37 +1 known intronic c.NULL NULL 0.011 - - - no_errors RP11-333E1.1 Clone_based_vega_gene ENSG00000261879 tier4 1061 0 0 1806 4 0.22075055187638 550 1 0.179533213644524 17 5717781 5717781 G A SNP WSCD1 ENST00000563763 human ensembl 70_37 +1 known intronic c.NULL NULL 0.002 - - - no_errors WSCD1 HGNC ENSG00000179314 tier4 1955 1 0.0510986203372509 1921 899 31.8455543747786 541 4 0.73394495412844 17 5889143 5889143 A C SNP WSCD1 ENST00000573619 human ensembl 70_37 +1 known intronic c.1-4107 e1-4107 0.017 - - - no_stop_codon:bad_bp_length_for_coding_region WSCD1 HGNC ENSG00000179314 tier4 2005 0 0 2863 2 0.0697350069735007 865 0 0 17 5922331 5922331 C T SNP WSCD1 ENST00000573619 human ensembl 70_37 +1 known intronic c.1+28990 e0+28990 0.003 - - - no_stop_codon:bad_bp_length_for_coding_region WSCD1 HGNC ENSG00000179314 tier4 1229 0 0 839 838 49.9701848539058 509 135 20.7055214723926 17 7577142 7577142 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.796 p.G266R 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 162 1 0.61 160 0 0 137 10 6.8 17 8563111 8563111 A C SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known 5_prime_flanking_region c.-36547 NULL 0.002 - - - no_errors MYH10 HGNC ENSG00000133026 tier4 699 0 0 973 3 0.307062436028659 325 4 1.21580547112462 17 9728973 9728973 G C SNP GLP2R ENST00000262441 human ensembl 70_37 +1 known 5_prime_untranslated_region c.-408 NULL 0.000 - - - no_errors GLP2R HGNC ENSG00000065325 tier2 718 0 0 1160 4 0.342172797262618 370 1 0.268096514745308 17 10010097 10010097 G T SNP GAS7 ENST00000432992 human ensembl 70_37 -1 known intronic c.184-86883 e2-86883 0.000 - - - no_errors GAS7 HGNC ENSG00000007237 tier4 757 0 0 1214 3 0.246507806080526 310 0 0 17 10253041 10253041 G A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known intronic c.1144+832 e10+832 0.000 - - - no_errors MYH13 HGNC ENSG00000006788 tier4 1586 0 0 1289 954 42.5133689839572 703 137 16.3095238095238 17 10797071 10797071 A G SNP ENSG00000207242 ENST00000384513 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-35750 NULL 0.000 - - - no_errors U6 RFAM ENSG00000207242 tier4 551 0 0 760 2 0.262123197903014 325 0 0 17 11481310 11481310 T A SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known 5_prime_flanking_region c.-20506 NULL 0.007 - - - no_errors DNAH9 HGNC ENSG00000007174 tier4 2230 0 0 3019 2 0.0661813368630046 538 0 0 17 12171196 12171196 A G SNP - - - - - - - - - - - - - - - - - - tier4 880 0 0 1160 2 0.172117039586919 403 6 1.46699266503667 17 12392767 12392767 G A SNP - - - - - - - - - - - - - - - - - - tier2 898 0 0 1189 3 0.251677852348993 381 0 0 17 12971287 12971287 G T SNP ELAC2 ENST00000338034 human ensembl 70_37 -1 known 5_prime_flanking_region c.-50023 NULL 0.056 - - - no_errors ELAC2 HGNC ENSG00000006744 tier4 150 0 0 214 2 0.925925925925926 114 10 8.06451612903226 17 13124696 13124696 T A SNP - - - - - - - - - - - - - - - - - - tier4 2331 0 0 3116 4 0.128205128205128 808 0 0 17 13169954 13169954 A C SNP ENSG00000234634 ENST00000440522 human ensembl 70_37 -1 known 3_prime_flanking_region c.*32547 NULL 0.000 - - - no_errors AC003664.1 Clone_based_vega_gene ENSG00000234634 tier2 1011 0 0 1411 2 0.141542816702052 523 0 0 17 13192115 13192115 T G SNP ENSG00000234634 ENST00000440522 human ensembl 70_37 -1 known 3_prime_flanking_region c.*10386 NULL 0.099 - - - no_errors AC003664.1 Clone_based_vega_gene ENSG00000234634 tier4 827 0 0 1043 2 0.191387559808612 387 4 1.02040816326531 17 13445955 13445955 G C SNP HS3ST3A1 ENST00000284110 human ensembl 70_37 -1 known intronic c.600-45820 e2-45820 0.006 - - - no_errors HS3ST3A1 HGNC ENSG00000153976 tier2 415 0 0 567 2 0.350262697022767 238 1 0.4149377593361 17 13600385 13600385 A G SNP - - - - - - - - - - - - - - - - - - tier4 733 0 0 574 475 45.2812202097235 295 90 23.1362467866324 17 13797540 13797540 G A SNP LOC100506974 ENST00000577798 human ensembl 70_37 -1 known 5_prime_flanking_region c.-1378 NULL 0.263 - - - no_errors AC015842.1 Clone_based_vega_gene ENSG00000236088 tier4 417 0 0 587 1 0.170068027210884 270 4 1.45985401459854 17 15480518 15480518 A G SNP ENSG00000251537 ENST00000455584 human ensembl 70_37 -1 novel intronic c.2778-3021 e17-3021 0.164 - - - no_errors TRIM16 Uniprot_genename ENSG00000251537 tier2 1173 0 0 1737 2 0.114942528735632 528 0 0 17 15737009 15737009 A G SNP ENSG00000227790 ENST00000421102 human ensembl 70_37 +1 known splice_region c.NULL NULL 0.000 - - - no_coding_region:pseudogene AC015922.5 Clone_based_vega_gene ENSG00000227790 tier2 1002 0 0 1512 6 0.394477317554241 481 2 0.41407867494824 17 19187310 19187310 T G SNP EPN2 ENST00000314728 human ensembl 70_37 +1 known intronic c.595+283 e1+283 0.000 - - - no_errors EPN2 HGNC ENSG00000072134 tier2 481 0 0 800 4 0.497512437810945 286 3 1.03806228373702 17 19424440 19424440 C T SNP SLC47A1 ENST00000584348 human ensembl 70_37 +1 known intronic c.NULL NULL 0.395 - - - no_errors SLC47A1 HGNC ENSG00000142494 tier4 991 0 0 1577 2 0.12666244458518 651 0 0 17 21153288 21153288 C A SNP C17orf103 ENST00000399011 human ensembl 70_37 -1 known intronic c.103+3184 e2+3184 0.000 - - - no_errors C17orf103 HGNC ENSG00000154035 tier2 557 1 0.17921146953405 441 353 44.4584382871537 297 59 16.5730337078652 17 21297099 21297099 C T SNP KCNJ12 ENST00000583088 human ensembl 70_37 +1 known intronic c.1-14732 e1-14732 0.001 - - - no_errors KCNJ12 HGNC ENSG00000184185 tier2 496 0 0 465 138 22.8855721393035 245 0 0 17 22247258 22247258 C A SNP ENSG00000264970 ENST00000578745 human ensembl 70_37 +1 known 3_prime_flanking_region c.*42246 NULL 0.000 - - - no_coding_region:pseudogene RP11-846F4.11 Clone_based_vega_gene ENSG00000264970 tier4 1734 6 0.344629523262493 3168 4 0.126023944549464 1312 34 2.5260029717682 17 22256736 22256736 A T SNP - - - - - - - - - - - - - - - - - - tier4 1577 0 0 2447 2 0.0816659861167824 1356 0 0 17 25264138 25264138 A T SNP ENSG00000263433 ENST00000580677 human ensembl 70_37 +1 known 5_prime_flanking_region c.-44582 NULL 0.000 - - - no_coding_region:pseudogene RP11-260A9.1 Clone_based_vega_gene ENSG00000263433 tier4 743 0 0 893 2 0.223214285714286 333 0 0 17 25273194 25273194 C T SNP ENSG00000263433 ENST00000580677 human ensembl 70_37 +1 known 5_prime_flanking_region c.-35526 NULL 0.195 - - - no_coding_region:pseudogene RP11-260A9.1 Clone_based_vega_gene ENSG00000263433 tier2 3167 0 0 3880 3 0.0772399588053553 1505 0 0 17 25277387 25277387 A G SNP ENSG00000263433 ENST00000580677 human ensembl 70_37 +1 known 5_prime_flanking_region c.-31333 NULL 0.014 - - - no_coding_region:pseudogene RP11-260A9.1 Clone_based_vega_gene ENSG00000263433 tier2 1724 7 0.404157043879908 1970 6 0.303643724696356 890 27 2.94438386041439 17 26316098 26316098 A G SNP ENSG00000260019 ENST00000567574 human ensembl 70_37 -1 known 5_prime_flanking_region c.-14849 NULL 0.055 - - - no_errors RP11-218F4.1 Clone_based_vega_gene ENSG00000260019 tier2 1967 0 0 1637 1260 43.4932688988609 729 168 18.6874304783092 17 27366635 27366635 T C SNP PIPOX ENST00000577182 human ensembl 70_37 +1 known intronic c.NULL NULL 0.028 - - - no_errors PIPOX HGNC ENSG00000179761 tier4 582 0 0 819 7 0.847457627118644 229 0 0 17 28043959 28043959 C T SNP SSH2 ENST00000269033 human ensembl 70_37 -1 known intronic c.108-13879 e3-13879 0.296 - - - no_errors SSH2 HGNC ENSG00000141298 tier4 1129 0 0 962 697 42.0132610006028 483 92 15.8620689655172 17 28833820 28833820 G T SNP GOSR1 ENST00000225724 human ensembl 70_37 +1 known intronic c.516-4078 e7-4078 0.033 - - - no_errors GOSR1 HGNC ENSG00000108587 tier4 676 1 0.147492625368732 534 468 46.7065868263473 360 72 16.5898617511521 17 31406656 31406656 G A SNP ASIC2 ENST00000225823 human ensembl 70_37 -1 known intronic c.987+9225 e3+9225 0.000 - - - no_errors ASIC2 HGNC ENSG00000108684 tier4 1902 2 0.10498687664042 1298 1015 43.8255613126079 614 142 18.6842105263158 17 34140648 34140648 C G SNP TAF15 ENST00000588240 human ensembl 70_37 +1 known intronic c.7+4068 e1+4068 0.001 - - - no_errors TAF15 HGNC ENSG00000172660 tier4 800 0 0 1173 10 0.84530853761623 377 3 0.769230769230769 17 35129866 35129866 A C SNP ENSG00000267785 ENST00000591939 human ensembl 70_37 +1 known 3_prime_flanking_region c.*47215 NULL 0.015 - - - no_errors CTD-3194G12.2 Clone_based_vega_gene ENSG00000267785 tier4 1227 0 0 1678 2 0.119047619047619 467 3 0.638297872340425 17 37596233 37596233 A G SNP MED1 ENST00000300651 human ensembl 70_37 -1 known intronic c.399+406 e5+406 0.005 - - - no_errors MED1 HGNC ENSG00000125686 tier4 64 0 0 110 2 1.78571428571429 19 0 0 17 39598245 39598245 T A SNP KRT38 ENST00000246646 human ensembl 70_37 -1 known 5_prime_flanking_region c.-1072 NULL 0.000 - - - no_errors KRT38 HGNC ENSG00000171360 tier4 973 0 0 1549 3 0.193174500965873 378 2 0.526315789473684 17 39877028 39877028 T G SNP JUP ENST00000540235 human ensembl 70_37 -1 known intronic c.909+46603 e4+46603 0.213 - - - no_errors JUP HGNC ENSG00000173801 tier4 607 0 0 893 2 0.223463687150838 315 0 0 17 41003307 41003307 G A SNP AOC3 ENST00000308423 human ensembl 70_37 +1 known 5_prime_untranslated_region c.-54 NULL 0.000 - - - no_errors AOC3 HGNC ENSG00000131471 tier2 601 0 0 445 432 49.2027334851936 331 70 17.4563591022444 17 41400764 41400764 C G SNP TMEM106A-AS1 ENST00000427995 human ensembl 70_37 -1 known 5_prime_flanking_region c.-24218 NULL 0.076 - - - no_errors TMEM106A-AS1 HGNC ENSG00000236383 tier4 1676 0 0 2934 2 0.0679347826086957 1300 0 0 17 41412776 41412776 C T SNP TMEM106A-AS1 ENST00000427995 human ensembl 70_37 -1 known 5_prime_flanking_region c.-36230 NULL 0.430 - - - no_errors TMEM106A-AS1 HGNC ENSG00000236383 tier4 327 0 0 300 228 43.1818181818182 179 48 21.1453744493392 17 41933219 41933219 T A SNP CD300LG ENST00000317310 human ensembl 70_37 +1 known intronic c.832+532 e5+532 0.009 - - - no_errors CD300LG HGNC ENSG00000161649 tier4 475 0 0 772 2 0.258397932816537 306 0 0 17 42647366 42647366 T G SNP FZD2 ENST00000315323 human ensembl 70_37 +1 known 3_prime_flanking_region c.*10612 NULL 0.125 - - - no_errors FZD2 HGNC ENSG00000180340 tier4 456 0 0 669 4 0.594353640416048 330 1 0.302114803625378 17 45578141 45578141 C T SNP NPEPPS ENST00000322157 human ensembl 70_37 +1 known 5_prime_flanking_region c.-30526 NULL 0.912 - - - no_errors NPEPPS HGNC ENSG00000141279 tier2 803 3 0.372208436724566 731 436 37.2968349016253 480 84 14.8148148148148 17 46679350 46679350 T G SNP HOXB6 ENST00000225648 human ensembl 70_37 -1 known intronic c.1+2492 e0+2492 0.430 - - - no_errors HOXB6 HGNC ENSG00000108511 tier2 1052 0 0 1570 5 0.317258883248731 497 3 0.6 17 47264227 47264227 G A SNP ABI3 ENST00000225941 human ensembl 70_37 +1 known 5_prime_flanking_region c.-23860 NULL 0.755 - - - no_errors ABI3 HGNC ENSG00000108798 tier4 2794 0 0 4444 3 0.0674612098043625 891 3 0.334448160535117 17 49334103 49334103 C A SNP MBTD1 ENST00000593259 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors MBTD1 HGNC ENSG00000011258 tier1 629 0 0 933 2 0.213903743315508 343 0 0 17 49787810 49787810 C A SNP CA10 ENST00000340813 human ensembl 70_37 -1 known intronic c.483+37183 e4+37183 0.000 - - - no_errors CA10 HGNC ENSG00000154975 tier2 686 0 0 511 403 44.0919037199125 281 47 14.3292682926829 17 50331869 50331869 G A SNP ENSG00000252109 ENST00000516300 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-28162 NULL 0.001 - - - no_errors snoZ178 RFAM ENSG00000252109 tier4 1754 0 0 2253 27 1.18369136343709 561 130 18.7590187590188 17 50795613 50795613 G A SNP - - - - - - - - - - - - - - - - - - tier4 1499 0 0 1045 708 40.3648802736602 575 100 14.8148148148148 17 50984680 50984680 G T SNP ENSG00000226364 ENST00000412360 human ensembl 70_37 +1 putative 3_prime_flanking_region c.*7977 NULL 0.000 - - - no_errors AC102948.2 Clone_based_vega_gene ENSG00000226364 tier4 1600 0 0 2120 4 0.188323917137476 586 3 0.500834724540901 17 51895187 51895187 C G SNP KIF2B ENST00000268919 human ensembl 70_37 +1 known 5_prime_flanking_region c.-5208 NULL 0.000 - - - no_errors KIF2B HGNC ENSG00000141200 tier2 1202 0 0 992 460 31.6804407713499 552 0 0 17 51954352 51954352 T C SNP - - - - - - - - - - - - - - - - - - tier2 1538 0 0 1100 857 43.791517629024 654 132 16.793893129771 17 52061139 52061139 C T SNP ENSG00000263189 ENST00000574529 human ensembl 70_37 +1 known 3_prime_flanking_region c.*28454 NULL 0.000 - - - no_coding_region:pseudogene RP11-618P13.1 Clone_based_vega_gene ENSG00000263189 tier2 622 0 0 404 347 46.2050599201065 275 65 19.1176470588235 17 52971572 52971572 A C SNP TOM1L1 ENST00000575882 human ensembl 70_37 +1 known 5_prime_flanking_region c.-6655 NULL 0.001 - - - no_errors TOM1L1 HGNC ENSG00000141198 tier2 610 0 0 783 2 0.254777070063694 263 3 1.11940298507463 17 53330142 53330142 T G SNP HLF ENST00000226067 human ensembl 70_37 +1 known 5_prime_flanking_region c.-12704 NULL 0.004 - - - no_errors HLF HGNC ENSG00000108924 tier2 551 0 0 745 1 0.134048257372654 299 2 0.655737704918033 17 53345950 53345950 T G SNP HLF ENST00000226067 human ensembl 70_37 +1 known intronic c.451+503 e2+503 0.000 - - - no_errors HLF HGNC ENSG00000108924 tier2 1512 0 0 2051 3 0.145985401459854 688 0 0 17 53630094 53630094 T C SNP ENSG00000236319 ENST00000455347 human ensembl 70_37 -1 putative intronic c.NULL NULL 0.005 - - - no_errors CTD-2033D24.2 Clone_based_vega_gene ENSG00000236319 tier4 1555 0 0 1970 2 0.101419878296146 772 0 0 17 53783870 53783870 C T SNP PCTP ENST00000268896 human ensembl 70_37 +1 known 5_prime_flanking_region c.-44595 NULL 0.000 - - - no_errors PCTP HGNC ENSG00000141179 tier4 1271 1 0.0786163522012579 1671 1 0.0598086124401914 577 30 4.94233937397035 17 54008746 54008746 G T SNP - - - - - - - - - - - - - - - - - - tier4 1930 0 0 1366 1042 43.2365145228216 600 150 19.9468085106383 17 54121837 54121837 A T SNP ENSG00000264277 ENST00000579668 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-10311 NULL 0.000 - - - no_errors AC011073.1 Clone_based_ensembl_gene ENSG00000264277 tier4 1142 0 0 829 693 45.5321944809461 507 129 20.2830188679245 17 54360062 54360062 C A SNP ANKFN1 ENST00000318698 human ensembl 70_37 +1 known intronic c.63-43520 e3-43520 0.007 - - - no_errors ANKFN1 HGNC ENSG00000153930 tier2 1212 2 0.164744645799012 852 734 46.2507876496534 485 120 19.7693574958814 17 56391776 56391776 C T SNP BZRAP1 ENST00000355701 human ensembl 70_37 -1 known intronic c.2098+1608 e16+1608 0.002 - - - no_errors BZRAP1 HGNC ENSG00000005379 tier4 899 0 0 713 578 44.7368421052632 420 104 19.8473282442748 17 57578531 57578531 G A SNP ENSG00000265313 ENST00000577478 human ensembl 70_37 -1 known intronic c.NULL NULL 0.283 - - - no_errors RP11-567L7.6 Clone_based_vega_gene ENSG00000265313 tier2 2282 0 0 3716 2 0.05372011818426 988 2 0.200803212851406 17 58848608 58848608 C T SNP BCAS3 ENST00000390652 human ensembl 70_37 +1 known intronic c.403+23968 e5+23968 0.001 - - - no_errors BCAS3 HGNC ENSG00000141376 tier2 963 0 0 1425 4 0.27972027972028 574 2 0.345423143350604 17 59037629 59037629 T A SNP BCAS3 ENST00000390652 human ensembl 70_37 +1 known intronic c.1221+12916 e13+12916 0.000 - - - no_errors BCAS3 HGNC ENSG00000141376 tier4 948 1 0.105374077976818 673 596 46.9661150512214 395 105 21 17 59871899 59871899 T G SNP BRIP1 ENST00000259008 human ensembl 70_37 -1 known intronic c.1341-809 e9-809 0.008 - - - no_errors BRIP1 HGNC ENSG00000136492 tier4 459 0 0 634 2 0.313971742543171 275 0 0 17 63133173 63133173 G A SNP RGS9 ENST00000262406 human ensembl 70_37 +1 known 5_prime_flanking_region c.-486 NULL 0.000 - - - no_errors RGS9 HGNC ENSG00000108370 tier2 1635 10 0.606060606060606 2112 207 8.91472868217054 718 6 0.826446280991736 17 63928492 63928492 C T SNP CEP112 ENST00000392769 human ensembl 70_37 -1 known intronic c.1873-4685 e18-4685 0.127 - - - no_errors CEP112 HGNC ENSG00000154240 tier4 1195 6 0.499168053244592 1518 1 0.0658327847267939 496 87 14.8717948717949 17 64345662 64345662 G A SNP PRKCA ENST00000413366 human ensembl 70_37 +1 known intronic c.205+43417 e2+43417 0.937 - - - no_errors PRKCA HGNC ENSG00000154229 tier2 1090 0 0 863 615 41.6102841677943 496 89 15.2136752136752 17 65444628 65444628 A C SNP PITPNC1 ENST00000335257 human ensembl 70_37 +1 known intronic c.48+70310 e1+70310 0.013 - - - no_errors PITPNC1 HGNC ENSG00000154217 tier2 451 0 0 754 1 0.132450331125828 289 2 0.687285223367698 17 65861560 65861560 T G SNP BPTF ENST00000321892 human ensembl 70_37 +1 known intronic c.1437-1020 e3-1020 0.000 - - - no_errors BPTF HGNC ENSG00000171634 tier4 639 0 0 944 2 0.211416490486258 354 0 0 17 66345447 66345447 G A SNP ARSG ENST00000448504 human ensembl 70_37 +1 known intronic c.454+2134 e3+2134 0.035 - - - no_errors ARSG HGNC ENSG00000141337 tier4 807 0 0 1048 6 0.569259962049336 414 1 0.240963855421687 17 67356669 67356669 A G SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known 5_prime_flanking_region c.-46113 NULL 0.132 - - - no_errors ABCA5 HGNC ENSG00000154265 tier4 645 0 0 916 2 0.217864923747277 379 0 0 17 67372322 67372322 T C SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known 5_prime_flanking_region c.-61766 NULL 0.000 - - - no_errors ABCA5 HGNC ENSG00000154265 tier2 1046 0 0 1431 1 0.0698324022346369 519 2 0.383877159309021 17 68586778 68586778 G A SNP ENSG00000267471 ENST00000585581 human ensembl 70_37 -1 known 3_prime_flanking_region c.*38280 NULL 0.020 - - - no_coding_region:pseudogene RP11-1058G23.1 Clone_based_vega_gene ENSG00000267471 tier2 520 0 0 369 283 43.3384379785605 205 39 15.8536585365854 17 69330105 69330105 G A SNP ENSG00000238759 ENST00000459033 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-35746 NULL 0.020 - - - no_errors U7 RFAM ENSG00000238759 tier2 1021 0 0 738 589 44.3858327053504 431 86 16.6344294003868 17 70000092 70000092 G A SNP ENSG00000267893 ENST00000602013 human ensembl 70_37 +1 known 5_prime_flanking_region c.-36373 NULL 0.090 - - - no_errors AC007461.1 Clone_based_ensembl_gene ENSG00000267893 tier2 1085 1 0.0919963201471941 713 614 46.2697814619442 450 84 15.7303370786517 17 70085775 70085775 T C SNP ENSG00000226101 ENST00000419257 human ensembl 70_37 +1 known rna NULL NULL 0.323 - - - no_errors AC007461.2 Clone_based_vega_gene ENSG00000226101 tier1 511 0 0 684 2 0.291545189504373 229 0 0 17 70349653 70349653 A G SNP ENSG00000264026 ENST00000577573 human ensembl 70_37 +1 known intronic c.NULL NULL 0.092 - - - no_errors RP11-1124B17.1 Clone_based_vega_gene ENSG00000264026 tier2 704 0 0 972 13 1.31979695431472 276 61 18.1008902077151 17 70430242 70430242 T A SNP LINC00511 ENST00000453722 human ensembl 70_37 -1 known intronic c.NULL NULL 0.008 - - - no_errors LINC00511 HGNC ENSG00000227036 tier4 488 0 0 598 5 0.829187396351575 320 0 0 17 72062636 72062636 A C SNP ENSG00000266357 ENST00000581028 human ensembl 70_37 -1 known intronic c.NULL NULL 0.042 - - - no_errors RP11-101O21.1 Clone_based_vega_gene ENSG00000266357 tier2 502 0 0 695 2 0.286944045911047 241 2 0.823045267489712 17 79620661 79620661 C T SNP PDE6G ENST00000331056 human ensembl 70_37 -1 known intronic c.1-267 e1-267 0.002 - - - no_errors PDE6G HGNC ENSG00000185527 tier3 384 0 0 317 229 41.9413919413919 202 26 11.4035087719298 17 80359454 80359454 T G SNP OGFOD3 ENST00000329197 human ensembl 70_37 -1 known intronic c.699+2359 e7+2359 0.001 - - - no_errors OGFOD3 HGNC ENSG00000181396 tier4 720 0 0 1209 2 0.164880461665293 340 0 0 17 81060057 81060057 C A SNP ENSG00000262898 ENST00000572343 human ensembl 70_37 +1 known 5_prime_flanking_region c.-31843 NULL 0.991 - - - no_errors AC139099.4 Clone_based_vega_gene ENSG00000262898 tier3 172 0 0 236 2 0.840336134453781 97 2 2.02020202020202 18 207919 207919 G A SNP USP14 ENST00000261601 human ensembl 70_37 +1 known intronic c.1165-2052 e14-2052 0.111 - - - no_errors USP14 HGNC ENSG00000101557 tier4 1075 1 0.0927643784786642 808 615 43.1578947368421 482 91 15.7712305025997 18 801387 801387 C A SNP YES1 ENST00000314574 human ensembl 70_37 -1 known intronic c.1+10728 e0+10728 0.000 - - - no_errors YES1 HGNC ENSG00000176105 tier2 785 0 0 1153 4 0.345721694036301 420 4 0.943396226415094 18 2144264 2144264 A G SNP ENSG00000263745 ENST00000579097 human ensembl 70_37 -1 known intronic c.NULL NULL 0.160 - - - no_errors RP11-161I6.2 Clone_based_vega_gene ENSG00000263745 tier4 842 1 0.118483412322275 589 485 45.0743494423792 403 81 16.7355371900826 18 2354474 2354474 A C SNP - - - - - - - - - - - - - - - - - - tier4 572 0 0 846 2 0.235849056603774 297 1 0.335570469798658 18 3228339 3228339 A G SNP ENSG00000265399 ENST00000580139 human ensembl 70_37 +1 known intronic c.NULL NULL 0.005 - - - no_errors RP13-270P17.2 Clone_based_vega_gene ENSG00000265399 tier4 389 0 0 586 3 0.509337860780985 227 0 0 18 4276170 4276170 A G SNP DLGAP1 ENST00000315677 human ensembl 70_37 -1 known intronic c.1-124883 e1-124883 0.000 - - - no_errors DLGAP1 HGNC ENSG00000170579 tier2 465 0 0 675 2 0.278164116828929 162 1 0.571428571428571 18 4594198 4594198 G A SNP - - - - - - - - - - - - - - - - - - tier4 1085 2 0.183823529411765 712 520 42.1393841166937 504 99 16.4179104477612 18 4648310 4648310 G A SNP - - - - - - - - - - - - - - - - - - tier4 942 0 0 594 457 43.4823977164605 334 78 18.9320388349515 18 5284723 5284723 A G SNP ENSG00000264254 ENST00000579113 human ensembl 70_37 +1 known 5_prime_flanking_region c.-25672 NULL 0.000 - - - no_errors CTD-3096M3.1 Clone_based_vega_gene ENSG00000264254 tier2 1197 0 0 1490 1 0.0670690811535882 431 4 0.919540229885057 18 5708824 5708824 C G SNP LOC645355 ENST00000562452 human ensembl 70_37 +1 known 5_prime_flanking_region c.-39994 NULL 0.000 - - - no_errors RP11-945C19.1 Clone_based_vega_gene ENSG00000261738 tier4 1353 0 0 957 748 43.8709677419355 513 118 18.7004754358162 18 5886290 5886290 G T SNP ENSG00000264449 ENST00000577694 human ensembl 70_37 +1 known 5_prime_flanking_region c.-1327 NULL 0.001 - - - no_errors RP11-945C19.4 Clone_based_vega_gene ENSG00000264449 tier2 788 0 0 601 446 42.5978987583572 365 71 16.2844036697248 18 6456019 6456019 T C SNP L3MBTL4 ENST00000284898 human ensembl 70_37 -1 known 5_prime_flanking_region c.-144395 NULL 0.001 - - - no_errors L3MBTL4 HGNC ENSG00000154655 tier4 1165 0 0 1574 4 0.253485424588086 590 1 0.169204737732657 18 6936710 6936710 T G SNP LINC00668 ENST00000578278 human ensembl 70_37 -1 known 5_prime_flanking_region c.-9721 NULL 0.047 - - - no_errors LINC00668 HGNC ENSG00000265933 tier2 802 0 0 1024 2 0.194931773879142 439 2 0.453514739229025 18 8350892 8350892 A C SNP PTPRM ENST00000400060 human ensembl 70_37 +1 known intronic c.3057+7374 e23+7374 0.038 - - - no_errors PTPRM HGNC ENSG00000173482 tier4 459 0 0 595 2 0.33500837520938 263 0 0 18 9468838 9468838 T G SNP RALBP1 ENST00000019317 human ensembl 70_37 +1 known 5_prime_flanking_region c.-44206 NULL 0.066 - - - no_errors RALBP1 HGNC ENSG00000017797 tier4 992 0 0 1493 3 0.200400801603206 425 2 0.468384074941452 18 11746017 11746017 T G SNP ENSG00000267333 ENST00000592770 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*11746017 NULL 1.000 - - - no_coding_region:pseudogene RP11-677O4.7 Clone_based_vega_gene ENSG00000267333 tier2 1529 0 0 2165 3 0.138376383763838 639 0 0 18 13808412 13808412 A G SNP MC5R ENST00000324750 human ensembl 70_37 +1 known 5_prime_flanking_region c.-17353 NULL 0.001 - - - no_errors MC5R HGNC ENSG00000176136 tier2 438 0 0 314 261 45.3913043478261 182 62 25.4098360655738 18 14949673 14949673 A C SNP ENSG00000266554 ENST00000584531 human ensembl 70_37 +1 known intronic c.NULL NULL 0.003 - - - no_errors RP11-527H14.2 Clone_based_vega_gene ENSG00000266554 tier2 259 0 0 335 3 0.887573964497041 119 1 0.833333333333333 18 15331327 15331327 G A SNP LOC644669 ENST00000455308 human ensembl 70_37 -1 known 5_prime_flanking_region c.-1065 NULL 0.060 - - - no_errors AP005901.1 Clone_based_vega_gene ENSG00000215512 tier2 208 2 0.943396226415094 252 36 12.4567474048443 112 2 1.75438596491228 18 18515191 18515191 A G SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known 3_prime_flanking_region c.*16154 NULL 0.000 - - - no_errors ROCK1 HGNC ENSG00000067900 tier4 192 0 0 271 2 0.732600732600733 110 6 5.17241379310345 18 18515861 18515861 A C SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known 3_prime_flanking_region c.*15484 NULL 0.000 - - - no_errors ROCK1 HGNC ENSG00000067900 tier4 1313 0 0 1991 3 0.150375939849624 864 0 0 18 18515897 18515897 C T SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known 3_prime_flanking_region c.*15448 NULL 0.000 - - - no_errors ROCK1 HGNC ENSG00000067900 tier4 824 0 0 1271 2 0.156862745098039 522 0 0 18 18516513 18516513 A G SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known 3_prime_flanking_region c.*14832 NULL 0.000 - - - no_errors ROCK1 HGNC ENSG00000067900 tier4 790 0 0 1120 3 0.267141585040071 509 0 0 18 18516785 18516785 G A SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known 3_prime_flanking_region c.*14560 NULL 0.000 - - - no_errors ROCK1 HGNC ENSG00000067900 tier4 143 0 0 181 4 2.16216216216216 32 1 2.85714285714286 18 18517018 18517018 T C SNP ROCK1 ENST00000399799 human ensembl 70_37 -1 known 3_prime_flanking_region c.*14327 NULL 0.000 - - - no_errors ROCK1 HGNC ENSG00000067900 tier4 1055 0 0 1572 3 0.190355329949239 376 0 0 18 18527191 18527191 A C SNP ENSG00000260263 ENST00000564351 human ensembl 70_37 -1 known rna NULL NULL 0.370 - - - no_errors RP11-666N19.1 Clone_based_vega_gene ENSG00000260263 tier1 2260 0 0 3481 2 0.057372346528973 1090 0 0 18 18798887 18798887 A C SNP GREB1L ENST00000424526 human ensembl 70_37 +1 known 5_prime_flanking_region c.-164593 NULL 0.047 - - - no_errors GREB1L HGNC ENSG00000141449 tier2 1071 0 0 1583 4 0.251889168765743 552 1 0.18018018018018 18 19642157 19642157 C A SNP ENSG00000263588 ENST00000579830 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-36177 NULL 0.002 - - - no_errors RP11-595B24.2 Clone_based_vega_gene ENSG00000263588 tier4 650 0 0 1023 2 0.194931773879142 300 6 1.96078431372549 18 19858115 19858115 A C SNP ENSG00000238907 ENST00000459476 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*17475 NULL 0.002 - - - no_errors snoU13 RFAM ENSG00000238907 tier2 830 0 0 1195 1 0.0835421888053467 382 2 0.520833333333333 18 21024024 21024024 A G SNP RIOK3 ENST00000339486 human ensembl 70_37 +1 known 5_prime_flanking_region c.-9380 NULL 0.000 - - - no_errors RIOK3 HGNC ENSG00000101782 tier2 1500 0 0 2387 5 0.209030100334448 657 1 0.151975683890578 18 22048297 22048297 C T SNP HRH4 ENST00000256906 human ensembl 70_37 +1 known intronic c.194-455 e2-455 0.000 - - - no_errors HRH4 HGNC ENSG00000134489 tier4 851 4 0.467836257309942 641 581 47.5450081833061 325 71 17.9292929292929 18 22072984 22072984 A G SNP HRH4 ENST00000256906 human ensembl 70_37 +1 known 3_prime_flanking_region c.*15458 NULL 0.000 - - - no_errors HRH4 HGNC ENSG00000134489 tier2 991 0 0 711 632 46.9888475836431 411 93 18.452380952381 18 22250697 22250697 T C SNP ENSG00000263553 ENST00000578490 human ensembl 70_37 +1 known 5_prime_flanking_region c.-2430 NULL 0.000 - - - no_errors RP11-449D8.2 Clone_based_vega_gene ENSG00000263553 tier4 1127 0 0 1462 2 0.136612021857923 576 0 0 18 24035377 24035377 G T SNP KCTD1 ENST00000417602 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*330 NULL 1.000 - - - no_errors KCTD1 HGNC ENSG00000134504 tier2 532 0 0 751 4 0.529801324503311 337 0 0 18 24130285 24130285 T C SNP KCTD1 ENST00000317932 human ensembl 70_37 -1 known intronic c.1-49071 e1-49071 0.000 - - - no_errors KCTD1 HGNC ENSG00000134504 tier2 869 1 0.114942528735632 632 515 44.8606271777003 321 56 14.7757255936675 18 24351839 24351839 C A SNP AQP4-AS1 ENST00000579964 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors AQP4-AS1 HGNC ENSG00000260372 tier2 568 0 0 445 330 42.5806451612903 230 62 21.2328767123288 18 24420086 24420086 T C SNP AQP4-AS1 ENST00000579964 human ensembl 70_37 +1 known intronic c.NULL NULL 0.025 - - - no_errors AQP4-AS1 HGNC ENSG00000260372 tier2 846 0 0 1247 2 0.160128102481986 395 0 0 18 25210431 25210431 C T SNP ENSG00000264151 ENST00000580883 human ensembl 70_37 -1 known 5_prime_flanking_region c.-35432 NULL 0.000 - - - no_errors RP11-739N10.1 Clone_based_vega_gene ENSG00000264151 tier4 1433 0 0 1767 3 0.169491525423729 633 5 0.78125 18 25952464 25952464 T G SNP - - - - - - - - - - - - - - - - - - tier4 1712 0 0 2399 2 0.0832292967124428 579 0 0 18 26156313 26156313 A C SNP - - - - - - - - - - - - - - - - - - tier4 914 0 0 1114 2 0.17921146953405 434 3 0.68649885583524 18 27177240 27177240 A G SNP ENSG00000264587 ENST00000581532 human ensembl 70_37 +1 known 3_prime_flanking_region c.*49034 NULL 0.001 - - - no_errors RP11-784B15.1 Clone_based_vega_gene ENSG00000264587 tier4 1741 0 0 2638 2 0.0757288905717531 420 0 0 18 27274888 27274888 T G SNP - - - - - - - - - - - - - - - - - - tier4 683 0 0 791 2 0.252206809583859 326 2 0.609756097560976 18 27454055 27454055 C A SNP - - - - - - - - - - - - - - - - - - tier4 997 0 0 1357 2 0.14695077149155 492 7 1.40280561122244 18 27978689 27978689 A C SNP - - - - - - - - - - - - - - - - - - tier4 1284 0 0 1761 2 0.113442994895065 633 1 0.157728706624606 18 28110556 28110556 A C SNP - - - - - - - - - - - - - - - - - - tier4 773 0 0 998 2 0.2 352 2 0.561797752808989 18 28112456 28112456 A G SNP - - - - - - - - - - - - - - - - - - tier2 1421 0 0 2075 2 0.0962927298988926 552 0 0 18 29271917 29271917 A T SNP B4GALT6 ENST00000306851 human ensembl 70_37 -1 known 5_prime_flanking_region c.-7528 NULL 0.008 - - - no_errors B4GALT6 HGNC ENSG00000118276 tier2 1126 1 0.0887311446317658 1071 461 30.0913838120104 601 2 0.33167495854063 18 29547793 29547793 T G SNP TRAPPC8 ENST00000283351 human ensembl 70_37 -1 known 5_prime_flanking_region c.-25066 NULL 0.697 - - - no_errors TRAPPC8 HGNC ENSG00000153339 tier2 534 0 0 807 1 0.123609394313968 328 3 0.906344410876133 18 32312190 32312190 T G SNP DTNA ENST00000269190 human ensembl 70_37 +1 known intronic c.1-23750 e1-23750 0.001 - - - no_errors DTNA HGNC ENSG00000134769 tier2 1314 0 0 1817 6 0.328947368421053 578 1 0.172711571675302 18 34064472 34064472 T A SNP FHOD3 ENST00000257209 human ensembl 70_37 +1 known intronic c.338-17423 e4-17423 0.002 - - - no_errors FHOD3 HGNC ENSG00000134775 tier2 1526 0 0 1886 32 1.66840458811262 506 118 18.9102564102564 18 34439787 34439787 A T SNP KIAA1328 ENST00000280020 human ensembl 70_37 +1 known intronic c.332+15522 e4+15522 0.046 - - - no_errors KIAA1328 HGNC ENSG00000150477 tier4 2341 0 0 3119 3 0.0960922485586163 800 0 0 18 34627285 34627285 C T SNP KIAA1328 ENST00000280020 human ensembl 70_37 +1 known intronic c.577-19568 e7-19568 0.001 - - - no_errors KIAA1328 HGNC ENSG00000150477 tier2 1101 0 0 842 349 29.3031066330814 641 0 0 18 35070518 35070518 G C SNP CELF4 ENST00000591282 human ensembl 70_37 -1 known intronic c.287-4948 e2-4948 0.000 - - - no_errors CELF4 HGNC ENSG00000101489 tier2 917 1 0.108932461873638 569 478 45.6542502387775 375 83 18.0434782608696 18 35566887 35566887 T C SNP - - - - - - - - - - - - - - - - - - tier2 547 0 0 686 2 0.290697674418605 246 1 0.404858299595142 18 36879184 36879184 T C SNP LINC00669 ENST00000591469 human ensembl 70_37 -1 known intronic c.NULL NULL 0.012 - - - no_errors LINC00669 HGNC ENSG00000267374 tier2 968 0 0 1191 2 0.167644593461861 530 1 0.188323917137476 18 37803055 37803055 G T SNP - - - - - - - - - - - - - - - - - - tier4 518 0 0 773 4 0.514800514800515 277 0 0 18 37818424 37818424 A G SNP - - - - - - - - - - - - - - - - - - tier4 2519 4 0.158415841584158 2956 432 12.7433628318584 749 1 0.133333333333333 18 38780624 38780624 T A SNP - - - - - - - - - - - - - - - - - - tier4 1292 0 0 1719 3 0.174216027874564 610 2 0.326797385620915 18 41480420 41480420 C T SNP - - - - - - - - - - - - - - - - - - tier4 684 1 0.145985401459854 457 453 49.7802197802198 283 55 16.2721893491124 18 41551695 41551695 G T SNP - - - - - - - - - - - - - - - - - - tier4 1648 3 0.181708055723804 2098 6 0.284900284900285 731 14 1.8641810918775 18 42065202 42065202 A C SNP ENSG00000267337 ENST00000587877 human ensembl 70_37 -1 known intronic c.NULL NULL 0.251 - - - no_errors CTC-782O7.1 Clone_based_vega_gene ENSG00000267337 tier4 578 0 0 764 4 0.520156046814044 265 5 1.85185185185185 18 47083077 47083077 A C SNP LIPG ENST00000261292 human ensembl 70_37 +1 known 5_prime_flanking_region c.-5602 NULL 0.000 - - - no_errors LIPG HGNC ENSG00000101670 tier2 1029 0 0 1508 3 0.198150594451783 418 0 0 18 48388090 48388090 G T SNP ME2 ENST00000321341 human ensembl 70_37 +1 known 5_prime_flanking_region c.-34101 NULL 0.118 - - - no_errors ME2 HGNC ENSG00000082212 tier4 1410 0 0 2205 2 0.0906207521522429 461 6 1.2847965738758 18 48689831 48689831 T C SNP SRSF10P1 ENST00000588646 human ensembl 70_37 -1 known 5_prime_flanking_region c.-4078 NULL 0.001 - - - no_coding_region:pseudogene SRSF10P1 HGNC ENSG00000267717 tier2 1169 0 0 1651 1 0.0605326876513317 511 2 0.389863547758285 18 49218102 49218102 G A SNP ENSG00000265712 ENST00000577726 human ensembl 70_37 -1 known 5_prime_flanking_region c.-3523 NULL 0.000 - - - no_coding_region:pseudogene RP11-440L16.1 Clone_based_vega_gene ENSG00000265712 tier2 805 1 0.124069478908189 480 372 43.6619718309859 367 76 17.0786516853933 18 49377438 49377438 T A SNP RPS8P3 ENST00000462935 human ensembl 70_37 -1 known 5_prime_flanking_region c.-5440 NULL 0.002 - - - no_coding_region:pseudogene RPS8P3 HGNC ENSG00000215457 tier4 2012 0 0 2572 3 0.116504854368932 722 0 0 18 49648851 49648851 A G SNP - - - - - - - - - - - - - - - - - - tier2 1581 1 0.0632111251580278 1137 1013 47.0943747094375 537 123 18.5800604229607 18 50145551 50145551 A C SNP DCC ENST00000442544 human ensembl 70_37 +1 known intronic c.92-132873 e2-132873 0.002 - - - no_errors DCC HGNC ENSG00000187323 tier4 967 0 0 1155 1 0.0865051903114187 419 3 0.707547169811321 18 50335032 50335032 A C SNP DCC ENST00000442544 human ensembl 70_37 +1 known intronic c.412+56288 e2+56288 0.194 - - - no_errors DCC HGNC ENSG00000187323 tier2 726 0 0 930 4 0.428265524625268 343 3 0.862068965517241 18 50385710 50385710 G A SNP DCC ENST00000442544 human ensembl 70_37 +1 known intronic c.413-46704 e3-46704 0.117 - - - no_errors DCC HGNC ENSG00000187323 tier4 1025 0 0 643 581 47.4673202614379 403 77 16.0416666666667 18 51089953 51089953 C T SNP ENSG00000264263 ENST00000582064 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP11-671P2.1 Clone_based_vega_gene ENSG00000264263 tier2 916 0 0 1295 3 0.230769230769231 443 0 0 18 52758734 52758734 G A SNP ENSG00000267013 ENST00000589125 human ensembl 70_37 -1 known 3_prime_flanking_region c.*14401 NULL 0.000 - - - no_errors CTD-2171N6.1 Clone_based_vega_gene ENSG00000267013 tier2 1153 1 0.0866551126516464 790 630 44.3349753694581 419 96 18.6407766990291 18 52942272 52942272 A G SNP TCF4 ENST00000398339 human ensembl 70_37 -1 known intronic c.1095+578 e11+578 0.000 - - - no_errors TCF4 HGNC ENSG00000196628 tier2 1803 0 0 2545 5 0.196078431372549 701 1 0.142450142450142 18 55719881 55719881 T C SNP NEDD4L ENST00000400345 human ensembl 70_37 +1 known intronic c.48+7941 e1+7941 0.002 - - - no_errors NEDD4L HGNC ENSG00000049759 tier2 738 0 0 892 8 0.888888888888889 360 0 0 18 55731719 55731719 T G SNP NEDD4L ENST00000400345 human ensembl 70_37 +1 known intronic c.48+19779 e1+19779 0.000 - - - no_errors NEDD4L HGNC ENSG00000049759 tier2 852 0 0 1231 3 0.243111831442464 467 0 0 18 58692570 58692570 T G SNP - - - - - - - - - - - - - - - - - - tier2 982 0 0 1209 2 0.165152766308836 494 3 0.603621730382294 18 61576891 61576891 A C SNP SERPINB10 ENST00000238508 human ensembl 70_37 +1 known intronic c.1+1617 e0+1617 0.011 - - - no_errors SERPINB10 HGNC ENSG00000242550 tier2 717 0 0 1027 2 0.194363459669582 260 0 0 18 61577304 61577304 A G SNP SERPINB10 ENST00000238508 human ensembl 70_37 +1 known intronic c.1+2030 e0+2030 0.445 - - - no_errors SERPINB10 HGNC ENSG00000242550 tier2 882 0 0 1167 3 0.256410256410256 362 0 0 18 62192716 62192716 A G SNP ENSG00000252818 ENST00000517009 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*23974 NULL 0.002 - - - no_errors U7 RFAM ENSG00000252818 tier2 1103 1 0.0905797101449275 784 664 45.8563535911602 487 101 17.1768707482993 18 62874398 62874398 G A SNP ENSG00000264131 ENST00000578545 human ensembl 70_37 +1 known 3_prime_flanking_region c.*20144 NULL 0.007 - - - no_errors AC007631.1 Clone_based_vega_gene ENSG00000264131 tier4 275 0 0 183 148 44.7129909365559 113 24 17.5182481751825 18 63950078 63950078 G T SNP - - - - - - - - - - - - - - - - - - tier2 1564 3 0.191326530612245 1981 6 0.301962757926522 531 13 2.38970588235294 18 65604496 65604496 T G SNP ENSG00000264634 ENST00000580622 human ensembl 70_37 +1 known 5_prime_flanking_region c.-3690 NULL 0.004 - - - no_errors RP11-659F24.1 Clone_based_vega_gene ENSG00000264634 tier2 698 0 0 959 3 0.311850311850312 308 2 0.645161290322581 18 66503251 66503251 G T SNP CCDC102B ENST00000319445 human ensembl 70_37 +1 known intronic c.1-735 e1-735 0.000 - - - no_errors CCDC102B HGNC ENSG00000150636 tier2 821 0 0 1118 5 0.445235975066785 429 1 0.232558139534884 18 68065485 68065485 A C SNP LOC101060542 ENST00000582251 human ensembl 70_37 -1 known 5_prime_flanking_region c.-13658 NULL 0.001 - - - no_errors RP11-41O4.2 Clone_based_vega_gene ENSG00000266278 tier2 606 0 0 797 2 0.250312891113892 305 0 0 18 68869173 68869173 A G SNP ENSG00000263733 ENST00000583587 human ensembl 70_37 +1 known 5_prime_flanking_region c.-23767 NULL 0.000 - - - no_coding_region:pseudogene RP11-47G4.1 Clone_based_vega_gene ENSG00000263733 tier2 677 0 0 883 2 0.225988700564972 316 0 0 18 70238653 70238653 G A SNP CBLN2 ENST00000580889 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors CBLN2 HGNC ENSG00000141668 tier2 688 0 0 936 2 0.212765957446809 333 0 0 18 70744881 70744881 T A SNP - - - - - - - - - - - - - - - - - - tier4 985 0 0 660 490 42.6086956521739 401 83 17.1487603305785 18 72110171 72110171 T G SNP FAM69C ENST00000343998 human ensembl 70_37 -1 known intronic c.877-820 e3-820 0.001 - - - no_errors FAM69C HGNC ENSG00000187773 tier2 388 0 0 452 2 0.440528634361234 213 5 2.29357798165138 18 72974119 72974119 A C SNP TSHZ1 ENST00000580243 human ensembl 70_37 +1 known intronic c.41-23284 e2-23284 0.000 - - - no_errors TSHZ1 HGNC ENSG00000179981 tier2 1078 0 0 1471 3 0.203527815468114 576 0 0 18 74432773 74432773 A G SNP ENSG00000265836 ENST00000579393 human ensembl 70_37 +1 known 5_prime_flanking_region c.-30488 NULL 0.011 - - - no_coding_region:pseudogene AC139085.1 Clone_based_vega_gene ENSG00000265836 tier4 1351 0 0 1945 3 0.154004106776181 529 0 0 18 76999502 76999502 G A SNP ATP9B ENST00000426216 human ensembl 70_37 +1 known intronic c.1108-13879 e12-13879 0.000 - - - no_errors ATP9B HGNC ENSG00000166377 tier2 1340 0 0 1559 170 9.82658959537572 556 2 0.3584229390681 18 77348771 77348771 T C SNP ENSG00000267287 ENST00000589723 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-567M16.1 Clone_based_vega_gene ENSG00000267287 tier1 190 0 0 270 2 0.735294117647059 122 0 0 18 77590526 77590526 T G SNP KCNG2 ENST00000316249 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33142 NULL 0.000 - - - no_errors KCNG2 HGNC ENSG00000178342 tier2 787 0 0 1083 4 0.367647058823529 357 0 0 19 855779 855779 G T SNP ELANE ENST00000263621 human ensembl 70_37 +1 known missense c.582 p.Q194H 0.074 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ELANE HGNC ENSG00000197561 tier1 250 0 0 120 127 51.42 255 57 18.21 19 3734400 3734400 G A SNP TJP3 ENST00000262968 human ensembl 70_37 +1 known missense c.1052 p.R351Q 0.000 NULL pfam_PDZ,pfam_SH3_2,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 tier1 301 0 0 360 53 12.8329297820823 175 0 0 19 3734400 3734400 G A SNP TJP3 ENST00000262968 human ensembl 70_37 +1 known missense c.1052 p.R351Q 0.000 NULL pfam_PDZ,pfam_SH3_2,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 tier1 594 0 0 623 82 11.6312056737589 438 0 0 19 8495897 8495897 A C SNP MARCH2 ENST00000215555 human ensembl 70_37 +1 known intronic c.582+146 e3+146 0.000 - - - no_errors MARCH2 HGNC ENSG00000099785 tier3 360 0 0 645 2 0.309119010819165 248 4 1.58730158730159 19 8956613 8956613 C A SNP ZNF558 ENST00000301475 human ensembl 70_37 -1 known 5_prime_flanking_region c.-23278 NULL 0.013 - - - no_errors ZNF558 HGNC ENSG00000167785 tier3 670 0 0 925 3 0.321199143468951 363 2 0.539083557951483 19 9648819 9648819 T G SNP ZNF426 ENST00000253115 human ensembl 70_37 -1 known intronic c.1+116 e0+116 0.000 - - - no_errors ZNF426 HGNC ENSG00000130818 tier3 1066 0 0 1533 2 0.130293159609121 583 2 0.341880341880342 19 9733275 9733275 A G SNP LOC284385 ENST00000585797 human ensembl 70_37 +1 known intronic c.93+954 e1+954 0.019 - - - no_errors CTD-3116E22.4 Clone_based_vega_gene ENSG00000267106 tier4 506 0 0 709 4 0.561009817671809 349 3 0.852272727272727 19 10006336 10006336 G A SNP OLFM2 ENST00000264833 human ensembl 70_37 -1 known intronic c.64-34866 e2-34866 0.006 - - - no_errors OLFM2 HGNC ENSG00000105088 tier4 1565 3 0.190961171228517 1367 1267 48.0834914611006 376 130 25.4901960784314 19 11034787 11034787 T G SNP YIPF2 ENST00000253031 human ensembl 70_37 -1 known missense c.449 p.D150A 0.998 pfam_Yip1 pfam_Yip1 - no_errors YIPF2 HGNC ENSG00000130733 tier1 482 0 0 707 2 0.282087447108604 259 1 0.384615384615385 19 11248297 11248297 T A SNP SPC24 ENST00000585567 human ensembl 70_37 -1 known intronic c.436-206 e5-206 0.002 - - - no_stop_codon SPC24 HGNC ENSG00000161888 tier4 2175 0 0 3797 3 0.0779828437743696 694 4 0.564174894217207 19 12253305 12253305 A G SNP ZNF625 ENST00000414892 human ensembl 70_37 -1 putative missense c.295 p.S99P 1.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_start_codon ZNF625 HGNC ENSG00000257591 tier1 604 0 0 853 6 0.69848661233993 344 4 1.14942528735632 19 13142568 13142568 A G SNP NFIX ENST00000585575 human ensembl 70_37 +1 known intronic c.535+6202 e2+6202 0.000 - - - no_errors NFIX HGNC ENSG00000008441 tier3 925 0 0 808 789 49.343339587242 399 86 17.7319587628866 19 13370692 13370692 G A SNP CACNA1A ENST00000360228 human ensembl 70_37 -1 known intronic c.4251-177 e27-177 0.010 - - - no_errors CACNA1A HGNC ENSG00000141837 tier3 514 0 0 538 234 30.3108808290155 308 6 1.91082802547771 19 13603438 13603438 T G SNP CACNA1A ENST00000360228 human ensembl 70_37 -1 known intronic c.293+13308 e1+13308 0.004 - - - no_errors CACNA1A HGNC ENSG00000141837 tier3 801 0 0 1306 5 0.380807311500381 403 2 0.493827160493827 19 14722948 14722948 T G SNP NDUFB7 ENST00000215565 human ensembl 70_37 -1 known 5_prime_flanking_region c.-40136 NULL 0.002 - - - no_errors NDUFB7 HGNC ENSG00000099795 tier4 376 0 0 600 3 0.497512437810945 218 1 0.45662100456621 19 18820214 18820214 T A SNP CRTC1 ENST00000338797 human ensembl 70_37 +1 known intronic c.126+25576 e1+25576 0.001 - - - no_errors CRTC1 HGNC ENSG00000105662 tier3 235 0 0 215 197 47.8155339805825 136 37 21.1428571428571 19 19543751 19543751 T G SNP GATAD2A ENST00000404158 human ensembl 70_37 +1 known intronic c.1-3189 e1-3189 0.004 - - - no_errors GATAD2A HGNC ENSG00000167491 tier4 847 0 0 1429 2 0.139664804469274 462 2 0.431034482758621 19 20000826 20000826 G T SNP ZNF253 ENST00000589717 human ensembl 70_37 +1 known intronic c.227-1457 e4-1457 0.191 - - - no_errors ZNF253 HGNC ENSG00000256771 tier3 647 0 0 855 3 0.34965034965035 423 4 0.936768149882904 19 21172539 21172539 A G SNP ZNF430 ENST00000261560 human ensembl 70_37 +1 known 5_prime_flanking_region c.-31068 NULL 0.110 - - - no_errors ZNF430 HGNC ENSG00000118620 tier4 602 0 0 818 2 0.24390243902439 361 0 0 19 22326401 22326401 T C SNP ZNF92P2 ENST00000600543 human ensembl 70_37 -1 known 5_prime_flanking_region c.-11665 NULL 0.180 - - - no_coding_region:pseudogene ZNF92P2 HGNC ENSG00000269505 tier4 382 0 0 514 4 0.772200772200772 207 3 1.42857142857143 19 22534193 22534193 C T SNP ENSG00000268685 ENST00000596454 human ensembl 70_37 +1 known 5_prime_flanking_region c.-11198 NULL 0.298 - - - no_coding_region:pseudogene CTB-31C7.3 Clone_based_vega_gene ENSG00000268685 tier4 565 0 0 365 327 47.2543352601156 297 52 14.6478873239437 19 27737043 27737043 T C SNP - - - - - - - - - - - - - - - - - - tier4 193 0 0 276 2 0.719424460431655 127 0 0 19 27739096 27739096 C T SNP - - - - - - - - - - - - - - - - - - tier4 137 0 0 139 2 1.40845070422535 51 0 0 19 27739254 27739254 T C SNP - - - - - - - - - - - - - - - - - - tier4 116 0 0 165 3 1.78571428571429 84 0 0 19 27778677 27778677 C T SNP - - - - - - - - - - - - - - - - - - tier4 999 0 0 1383 2 0.144300144300144 383 2 0.506329113924051 19 27852061 27852061 T C SNP - - - - - - - - - - - - - - - - - - tier4 1251 0 0 1908 3 0.156985871271586 938 0 0 19 27852062 27852062 C G SNP - - - - - - - - - - - - - - - - - - tier4 1260 0 0 1899 5 0.262605042016807 938 0 0 19 27852454 27852454 A T SNP - - - - - - - - - - - - - - - - - - tier4 649 0 0 942 3 0.317460317460317 373 0 0 19 28240760 28240760 C A SNP LINC00662 ENST00000588027 human ensembl 70_37 -1 known intronic c.NULL NULL 0.127 - - - no_errors LINC00662 HGNC ENSG00000261824 tier4 485 0 0 539 1 0.185185185185185 282 2 0.699300699300699 19 28335510 28335510 G A SNP ENSG00000267575 ENST00000588122 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors CTC-459F4.3 Clone_based_vega_gene ENSG00000267575 tier4 1301 1 0.0768049155145929 881 649 42.4183006535948 543 124 18.5907046476762 19 29067431 29067431 G A SNP ENSG00000266893 ENST00000589999 human ensembl 70_37 -1 known intronic c.NULL NULL 0.054 - - - no_errors AC005616.1 Clone_based_vega_gene ENSG00000266893 tier3 1367 0 0 844 706 45.4896907216495 538 101 15.7566302652106 19 29653367 29653367 T G SNP UQCRFS1 ENST00000304863 human ensembl 70_37 -1 known 3_prime_flanking_region c.*45088 NULL 1.000 - - - no_errors UQCRFS1 HGNC ENSG00000169021 tier4 694 0 0 746 4 0.532623169107856 335 4 1.17994100294985 19 31643452 31643452 T C SNP ENSG00000267777 ENST00000589511 human ensembl 70_37 +1 known 5_prime_flanking_region c.-14970 NULL 0.000 - - - no_errors CTC-439O9.3 Clone_based_vega_gene ENSG00000267777 tier3 730 0 0 608 193 24.0948813982522 320 0 0 19 33920107 33920107 A G SNP PEPD ENST00000244137 human ensembl 70_37 -1 known intronic c.672-15558 e10-15558 0.000 - - - no_errors PEPD HGNC ENSG00000124299 tier4 231 2 0.858369098712446 179 133 42.6282051282051 151 40 20.9424083769634 19 34168559 34168559 A G SNP CHST8 ENST00000434302 human ensembl 70_37 +1 known intronic c.1+9810 e0+9810 0.023 - - - no_errors CHST8 HGNC ENSG00000124302 tier3 599 0 0 829 2 0.240673886883273 276 0 0 19 35583053 35583053 A G SNP LOC100128675 ENST00000392227 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors CTD-2527I21.11 Clone_based_vega_gene ENSG00000227392 tier4 2107 0 0 1771 1659 48.3110075713454 707 134 15.9334126040428 19 36282132 36282132 C T SNP ENSG00000225872 ENST00000433059 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC002398.5 Clone_based_vega_gene ENSG00000225872 tier1 164 1 0.606060606060606 120 138 53.4883720930233 85 15 15 19 37675341 37675341 A G SNP ZNF585B ENST00000532828 human ensembl 70_37 -1 known 3_prime_untranslated_region c.*788 NULL 0.000 - - - no_errors ZNF585B HGNC ENSG00000245680 tier4 80 0 0 126 8 5.88235294117647 38 0 0 19 38145481 38145481 T C SNP ZFP30 ENST00000351218 human ensembl 70_37 -1 known intronic c.1+132 e0+132 0.001 - - - no_errors ZFP30 HGNC ENSG00000120784 tier3 1119 0 0 1627 1 0.0613873542050338 442 2 0.45045045045045 19 38476923 38476923 T G SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known intronic c.1-42806 e1-42806 0.000 - - - no_errors SIPA1L3 HGNC ENSG00000105738 tier4 495 0 0 758 2 0.263157894736842 325 0 0 19 39592318 39592318 G T SNP PAPL ENST00000331256 human ensembl 70_37 +1 known intronic c.1113+141 e10+141 0.000 - - - no_errors PAPL Uniprot_genename ENSG00000183760 tier4 1014 0 0 1617 3 0.184615384615385 624 0 0 19 40238895 40238895 C T SNP CLC ENST00000221804 human ensembl 70_37 -1 known 5_prime_flanking_region c.-10303 NULL 0.049 - - - no_errors CLC HGNC ENSG00000105205 tier4 1172 0 0 951 639 40.188679245283 526 102 16.1904761904762 19 40468272 40468272 C T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known 5_prime_flanking_region c.-27747 NULL 0.261 - - - no_errors FCGBP HGNC ENSG00000090920 tier4 753 0 0 575 516 47.2527472527473 339 93 21.4285714285714 19 41803373 41803373 G C SNP HNRNPUL1 ENST00000392006 human ensembl 70_37 +1 known intronic c.1518+2782 e10+2782 0.000 - - - no_errors HNRNPUL1 HGNC ENSG00000105323 tier3 1135 0 0 1006 688 40.6139315230224 544 86 13.6075949367089 19 42937143 42937143 T C SNP CXCL17 ENST00000601181 human ensembl 70_37 -1 known missense c.247 p.N83D 0.010 NULL NULL - no_errors CXCL17 HGNC ENSG00000189377 tier1 281 0 0 256 0 0 252 13 4.91 19 43070462 43070462 A C SNP LOC100996307 ENST00000594624 human ensembl 70_37 +1 known intronic c.NULL NULL 0.006 - - - no_errors CTB-50E14.6 Clone_based_vega_gene ENSG00000213904 tier4 890 0 0 1374 3 0.217864923747277 374 1 0.26525198938992 19 43086198 43086198 G T SNP CEACAM8 ENST00000244336 human ensembl 70_37 -1 known intronic c.1050-693 e6-693 0.030 - - - no_errors CEACAM8 HGNC ENSG00000124469 tier3 715 0 0 951 4 0.418848167539267 369 0 0 19 43101459 43101459 G A SNP LOC100996307 ENST00000594624 human ensembl 70_37 +1 known intronic c.NULL NULL 0.080 - - - no_errors CTB-50E14.6 Clone_based_vega_gene ENSG00000213904 tier4 873 0 0 681 533 43.9044481054366 312 75 19.3798449612403 19 43172745 43172745 A C SNP CEACAMP5 ENST00000448037 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_coding_region:pseudogene CEACAMP5 HGNC ENSG00000231561 tier4 436 0 0 600 4 0.661157024793388 242 0 0 19 44188591 44188591 C G SNP IRGC ENST00000244314 human ensembl 70_37 +1 known 5_prime_flanking_region c.-34120 NULL 0.000 - - - no_errors IRGC HGNC ENSG00000124449 tier4 400 0 0 301 258 46.1538461538462 188 45 19.31330472103 19 44557266 44557266 A G SNP ZNF223 ENST00000591793 human ensembl 70_37 +1 known intronic c.263-1996 e4-1996 0.098 - - - no_errors ZNF223 Uniprot_genename ENSG00000267022 tier4 641 0 0 915 2 0.218102508178844 328 1 0.303951367781155 19 45073172 45073172 A C SNP CEACAM22P ENST00000455455 human ensembl 70_37 -1 known intronic c.NULL NULL 0.025 - - - no_errors CEACAM22P HGNC ENSG00000230666 tier3 1446 0 0 1849 223 10.7625482625483 758 0 0 19 46248885 46248885 G A SNP ENSG00000237452 ENST00000457052 human ensembl 70_37 +1 putative intronic c.306+306 e3+306 0.018 - - - no_errors AC074212.3 Clone_based_vega_gene ENSG00000237452 tier3 844 0 0 704 653 48.1208548268239 446 115 20.4262877442274 19 46737856 46737856 G A SNP ENSG00000268621 ENST00000594027 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31565 NULL 0.001 - - - no_errors AC006262.5 Clone_based_vega_gene ENSG00000268621 tier4 524 0 0 756 2 0.263157894736842 363 4 1.08991825613079 19 46861668 46861668 T C SNP PPP5C ENST00000012443 human ensembl 70_37 +1 known intronic c.363+4422 e2+4422 0.087 - - - no_errors PPP5C HGNC ENSG00000011485 tier4 988 0 0 1599 2 0.124921923797626 577 0 0 19 47989610 47989610 T A SNP NAPA-AS1 ENST00000593284 human ensembl 70_37 +1 known intronic c.NULL NULL 0.008 - - - no_errors NAPA-AS1 HGNC ENSG00000268061 tier4 1032 0 0 1734 8 0.458978772231784 487 2 0.404858299595142 19 48195399 48195399 A C SNP GLTSCR1 ENST00000396720 human ensembl 70_37 +1 known intronic c.2284-1973 e6-1973 0.000 - - - no_errors GLTSCR1 HGNC ENSG00000063169 tier3 299 0 0 503 2 0.396039603960396 225 1 0.442477876106195 19 48724258 48724258 A G SNP CARD8 ENST00000391898 human ensembl 70_37 -1 known intronic c.1161+729 e8+729 0.004 - - - no_errors CARD8 HGNC ENSG00000105483 tier4 55 0 0 109 7 6.03448275862069 31 0 0 19 48791156 48791156 T A SNP CARD8 ENST00000391898 human ensembl 70_37 -1 known 5_prime_flanking_region c.-46879 NULL 0.195 - - - no_errors CARD8 HGNC ENSG00000105483 tier4 621 0 0 1120 2 0.177619893428064 353 2 0.563380281690141 19 49319040 49319040 A G SNP HSD17B14 ENST00000263278 human ensembl 70_37 -1 known intronic c.370-642 e6-642 0.155 - - - no_errors HSD17B14 HGNC ENSG00000087076 tier4 1149 0 0 2079 3 0.144092219020173 492 0 0 19 49432830 49432830 T C SNP TULP2 ENST00000221399 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31705 NULL 0.062 - - - no_errors TULP2 HGNC ENSG00000104804 tier4 1408 0 0 2413 7 0.289136720363486 710 0 0 19 52564620 52564620 A C SNP ENSG00000260160 ENST00000569091 human ensembl 70_37 -1 known intronic c.NULL NULL 0.520 - - - no_errors CTC-471J1.2 Clone_based_vega_gene ENSG00000260160 tier4 487 0 0 601 2 0.33167495854063 283 0 0 19 54212162 54212162 T G SNP MIR521-2 ENST00000384818 human ensembl 70_37 +1 known 5_prime_flanking_region c.-7686 NULL 0.038 - - - no_errors MIR521-2 HGNC ENSG00000207549 tier3 606 0 0 806 5 0.61652281134402 349 3 0.852272727272727 19 56278200 56278200 C G SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known 5_prime_flanking_region c.-28460 NULL 0.000 - - - no_errors NLRP9 HGNC ENSG00000185792 tier3 666 0 0 952 2 0.209643605870021 389 0 0 19 56538441 56538441 C T SNP NLRP5 ENST00000390649 human ensembl 70_37 +1 known missense c.842 p.T281M 0.057 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 tier1 307 0 0 263 0 0 302 12 3.81 19 57296469 57296469 G A SNP ZIM2 ENST00000221722 human ensembl 70_37 -1 known intronic c.478-2980 e7-2980 0.011 - - - no_errors ZIM2 HGNC ENSG00000269699 tier4 1574 0 0 1053 728 40.8759124087591 608 96 13.6363636363636 19 57934137 57934137 T G SNP ENSG00000268533 ENST00000597410 human ensembl 70_37 +1 putative intronic c.42-5690 e2-5690 0.005 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AC004076.7 Clone_based_vega_gene ENSG00000268533 tier4 1441 0 0 1889 3 0.158562367864693 588 1 0.169491525423729 19 58697441 58697441 T G SNP ZNF274 ENST00000594248 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*58697441 NULL 0.001 - - - no_coding_region ZNF274 HGNC ENSG00000171606 tier3 471 0 0 675 3 0.442477876106195 330 0 0 19 58825440 58825440 A G SNP ENSG00000267216 ENST00000591325 human ensembl 70_37 +1 known intronic c.414-674 e2-674 0.367 - - - no_errors AC010642.1 Clone_based_vega_gene ENSG00000267216 tier4 759 0 0 1185 3 0.252525252525253 380 1 0.26246719160105 20 1820366 1820366 C T SNP ENSG00000230839 ENST00000447206 human ensembl 70_37 -1 known 5_prime_flanking_region c.-22114 NULL 0.971 - - - no_errors RP5-968J1.1 Clone_based_vega_gene ENSG00000230839 tier3 1012 0 0 144 1202 89.3016344725111 234 110 31.9767441860465 20 2056357 2056357 A C SNP RPL7P2 ENST00000427639 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*2056357 NULL 1.000 - - - no_coding_region:pseudogene RPL7P2 HGNC ENSG00000227663 tier3 766 0 0 997 2 0.2002002002002 431 0 0 20 2295092 2295092 A G SNP TGM3 ENST00000381458 human ensembl 70_37 +1 known intronic c.669+1420 e5+1420 0.102 - - - no_errors TGM3 HGNC ENSG00000125780 tier4 755 1 0.132275132275132 522 536 50.6616257088847 309 75 19.53125 20 3214471 3214471 G A SNP SLC4A11 ENST00000380059 human ensembl 70_37 -1 known intronic c.734+96 e6+96 0.000 - - - no_errors SLC4A11 HGNC ENSG00000088836 tier3 627 0 0 782 95 10.8323831242873 289 1 0.344827586206897 20 6273814 6273814 G A SNP - - - - - - - - - - - - - - - - - - tier3 1205 0 0 878 690 44.0051020408163 540 94 14.8264984227129 20 6434344 6434344 G T SNP ENSG00000229876 ENST00000415932 human ensembl 70_37 +1 known intronic c.NULL NULL 0.064 - - - no_errors RP11-199O14.1 Clone_based_vega_gene ENSG00000229876 tier3 1296 1 0.0771010023130301 986 799 44.7368421052632 476 108 18.4300341296928 20 7518554 7518554 C A SNP - - - - - - - - - - - - - - - - - - tier4 1438 0 0 1070 737 40.7632743362832 526 131 19.9391171993912 20 7889723 7889723 T G SNP HAO1 ENST00000378789 human ensembl 70_37 -1 known intronic c.546-2747 e4-2747 0.901 - - - no_errors HAO1 HGNC ENSG00000101323 tier3 916 0 0 1226 3 0.24390243902439 432 0 0 20 9766975 9766975 C T SNP PAK7 ENST00000353224 human ensembl 70_37 -1 known intronic c.1+52435 e0+52435 0.001 - - - no_errors PAK7 HGNC ENSG00000101349 tier3 1310 0 0 1572 198 11.1864406779661 518 0 0 20 9891286 9891286 T C SNP - - - - - - - - - - - - - - - - - - tier4 1592 0 0 2162 3 0.138568129330254 635 3 0.470219435736677 20 11836010 11836010 A G SNP LINC00687 ENST00000557899 human ensembl 70_37 -1 known intronic c.NULL NULL 0.036 - - - no_errors LINC00687 HGNC ENSG00000228422 tier4 759 0 0 962 2 0.20746887966805 406 0 0 20 12331642 12331642 C A SNP ENSG00000230437 ENST00000442389 human ensembl 70_37 -1 known 5_prime_flanking_region c.-34509 NULL 0.281 - - - no_errors RP11-102J14.1 Clone_based_vega_gene ENSG00000230437 tier3 658 0 0 493 292 37.1974522292994 340 54 13.7055837563452 20 12581729 12581729 A C SNP - - - - - - - - - - - - - - - - - - tier3 786 0 0 1031 3 0.289855072463768 335 1 0.29585798816568 20 12591202 12591202 T A SNP - - - - - - - - - - - - - - - - - - tier3 1295 0 0 1466 171 10.445937690898 557 0 0 20 12906652 12906652 A C SNP ENSG00000233048 ENST00000456265 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors RP5-1069C8.2 Clone_based_vega_gene ENSG00000233048 tier4 741 0 0 1047 5 0.475285171102662 396 2 0.50251256281407 20 13237831 13237831 A G SNP ISM1 ENST00000262487 human ensembl 70_37 +1 known intronic c.139-13320 e2-13320 0.000 - - - no_errors ISM1 HGNC ENSG00000101230 tier3 696 0 0 918 3 0.325732899022801 337 3 0.882352941176471 20 13465791 13465791 T A SNP TASP1 ENST00000337743 human ensembl 70_37 -1 known intronic c.875-1807 e10-1807 0.435 - - - no_errors TASP1 HGNC ENSG00000089123 tier3 1529 0 0 2042 4 0.195407914020518 645 2 0.307219662058372 20 14533164 14533164 A T SNP MACROD2 ENST00000310348 human ensembl 70_37 +1 known intronic c.301+59010 e4+59010 0.078 - - - no_errors MACROD2 HGNC ENSG00000172264 tier3 1014 0 0 720 675 48.3870967741935 437 75 14.6484375 20 14586151 14586151 T A SNP MACROD2 ENST00000310348 human ensembl 70_37 +1 known intronic c.302-79338 e5-79338 0.002 - - - no_errors MACROD2 HGNC ENSG00000172264 tier4 1431 0 0 1566 239 13.233665559247 583 0 0 20 17015934 17015934 G T SNP - - - - - - - - - - - - - - - - - - tier3 2650 3 0.113079532604599 1759 1401 44.3214172730149 785 181 18.7370600414079 20 17046653 17046653 G A SNP - - - - - - - - - - - - - - - - - - tier3 1181 0 0 779 639 45.0634696755994 443 103 18.7956204379562 20 17061282 17061282 G A SNP - - - - - - - - - - - - - - - - - - tier4 1542 3 0.193673337637185 903 795 46.7922307239553 486 133 21.4170692431562 20 17204327 17204327 G T SNP PCSK2 ENST00000262545 human ensembl 70_37 +1 known 5_prime_flanking_region c.-3624 NULL 0.000 - - - no_errors PCSK2 HGNC ENSG00000125851 tier3 1138 1 0.0877963125548727 815 577 41.4511494252874 467 107 18.6411149825784 20 17370810 17370810 C T SNP PCSK2 ENST00000262545 human ensembl 70_37 +1 known intronic c.544-19098 e6-19098 0.000 - - - no_errors PCSK2 HGNC ENSG00000125851 tier4 882 0 0 567 501 46.866230121609 371 77 17.1875 20 19177691 19177691 T C SNP SLC24A3 ENST00000328041 human ensembl 70_37 +1 known 5_prime_flanking_region c.-15796 NULL 0.469 - - - no_errors SLC24A3 HGNC ENSG00000185052 tier4 1100 0 0 1424 2 0.140252454417952 533 3 0.559701492537313 20 19905073 19905073 T C SNP RIN2 ENST00000255006 human ensembl 70_37 +1 known intronic c.205-10670 e3-10670 0.000 - - - no_errors RIN2 HGNC ENSG00000132669 tier4 565 0 0 777 2 0.256739409499358 352 1 0.28328611898017 20 20078773 20078773 C T SNP C20orf26 ENST00000245957 human ensembl 70_37 +1 known intronic c.700-526 e7-526 0.000 - - - no_errors C20orf26 HGNC ENSG00000089101 tier3 1176 1 0.0848896434634975 820 694 45.8388375165125 489 75 13.2978723404255 20 20201566 20201566 G T SNP C20orf26 ENST00000245957 human ensembl 70_37 +1 known intronic c.1933-7327 e17-7327 0.000 - - - no_errors C20orf26 HGNC ENSG00000089101 tier3 1563 0 0 2091 2 0.0955566172957477 760 2 0.26246719160105 20 23184366 23184366 A C SNP RNA5SP478 ENST00000364657 human ensembl 70_37 -1 known 5_prime_flanking_region c.-42758 NULL 0.000 - - - no_errors RNA5SP478 HGNC ENSG00000201527 tier3 1178 0 0 1792 4 0.22271714922049 495 2 0.402414486921529 20 24351368 24351368 C T SNP - - - - - - - - - - - - - - - - - - tier4 634 2 0.313971742543171 399 329 45.1303155006859 281 80 22.1606648199446 20 24837570 24837570 C A SNP - - - - - - - - - - - - - - - - - - tier4 468 1 0.213219616204691 305 307 50.1633986928105 219 59 21.2230215827338 20 25836801 25836801 A C SNP FAM182B ENST00000376404 human ensembl 70_37 -1 known intronic c.1-7217 e1-7217 0.017 - - - no_errors FAM182B HGNC ENSG00000175170 tier4 191 0 0 228 4 1.72413793103448 141 6 4.08163265306122 20 25935096 25935096 G T SNP ENSG00000226203 ENST00000449316 human ensembl 70_37 +1 known 5_prime_flanking_region c.-1352 NULL 0.001 - - - no_errors RP4-760C5.5 Clone_based_vega_gene ENSG00000226203 tier3 1301 0 0 1549 2 0.128783000643915 884 0 0 20 26262743 26262743 T G SNP LOC284801 ENST00000594130 human ensembl 70_37 -1 known 5_prime_flanking_region c.-30602 NULL 0.001 - - - no_errors RP3-410C9.1 Clone_based_vega_gene ENSG00000227195 tier4 106 0 0 124 4 3.125 66 2 2.94117647058824 20 26262911 26262911 T C SNP LOC284801 ENST00000594130 human ensembl 70_37 -1 known 5_prime_flanking_region c.-30770 NULL 0.006 - - - no_errors RP3-410C9.1 Clone_based_vega_gene ENSG00000227195 tier4 221 0 0 273 2 0.72463768115942 227 0 0 20 26310717 26310717 T G SNP - - - - - - - - - - - - - - - - - - tier4 566 0 0 889 3 0.335946248600224 399 0 0 20 29583122 29583122 T C SNP ENSG00000231934 ENST00000432067 human ensembl 70_37 -1 known intronic c.NULL NULL 0.084 - - - no_errors RP4-610C12.1 Clone_based_vega_gene ENSG00000231934 tier3 2083 0 0 2688 1 0.037147102526003 1408 3 0.212314225053079 20 29584407 29584407 A G SNP ENSG00000231934 ENST00000432067 human ensembl 70_37 -1 known intronic c.NULL NULL 0.026 - - - no_errors RP4-610C12.1 Clone_based_vega_gene ENSG00000231934 tier4 3524 0 0 4708 3 0.0636402206194315 1910 0 0 20 29584625 29584625 G A SNP ENSG00000231934 ENST00000432067 human ensembl 70_37 -1 known intronic c.NULL NULL 0.006 - - - no_errors RP4-610C12.1 Clone_based_vega_gene ENSG00000231934 tier3 3476 20 0.571591883395256 4109 25 0.604156597390043 1700 45 2.56702795208214 20 29811964 29811964 A T SNP DEFB115 ENST00000400552 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33503 NULL 0.000 - - - no_errors DEFB115 HGNC ENSG00000215547 tier4 198 0 0 274 3 1.08303249097473 100 0 0 20 31211268 31211268 C A SNP C20orf112 ENST00000201961 human ensembl 70_37 -1 known 5_prime_flanking_region c.-38858 NULL 0.012 - - - no_errors C20orf112 HGNC ENSG00000197183 tier4 687 0 0 577 480 45.4115421002838 326 58 15.1041666666667 20 31784217 31784217 T G SNP BPIFA4P ENST00000375465 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors BPIFA4P HGNC ENSG00000183566 tier3 1259 0 0 1828 4 0.218221494817239 554 1 0.179856115107914 20 32097179 32097179 T A SNP CBFA2T2 ENST00000375279 human ensembl 70_37 +1 known intronic c.1+19072 e0+19072 0.496 - - - no_errors CBFA2T2 HGNC ENSG00000078699 tier4 729 0 0 944 2 0.211416490486258 354 0 0 20 35359011 35359011 T A SNP NDRG3 ENST00000349004 human ensembl 70_37 -1 known intronic c.1-8825 e1-8825 0.000 - - - no_errors NDRG3 HGNC ENSG00000101079 tier3 957 0 0 1586 9 0.564263322884012 573 0 0 20 36076058 36076058 A C SNP RPL7AP14 ENST00000424041 human ensembl 70_37 -1 known 5_prime_flanking_region c.-2122 NULL 0.000 - - - no_coding_region:pseudogene RPL7AP14 HGNC ENSG00000213979 tier3 404 0 0 519 2 0.383877159309021 245 1 0.40650406504065 20 36260265 36260265 C T SNP LOC100287792 ENST00000373508 human ensembl 70_37 +1 known 5_prime_flanking_region c.-45047 NULL 0.000 - - - no_errors RP4-640H8.2 Clone_based_vega_gene ENSG00000204117 tier3 641 0 0 765 107 12.2565864833906 322 0 0 20 38461143 38461143 A G SNP ENSG00000229976 ENST00000444436 human ensembl 70_37 +1 known 3_prime_flanking_region c.*19272 NULL 0.001 - - - no_errors RP5-1031J8.1 Clone_based_vega_gene ENSG00000229976 tier3 1024 0 0 1334 1 0.0748502994011976 456 5 1.08459869848156 20 38884439 38884439 A G SNP - - - - - - - - - - - - - - - - - - tier3 953 0 0 1334 2 0.149588631264024 452 5 1.09409190371991 20 39360176 39360176 A T SNP MAFB ENST00000373313 human ensembl 70_37 -1 known 5_prime_flanking_region c.-42686 NULL 0.003 - - - no_errors MAFB HGNC ENSG00000204103 tier4 1311 0 0 1713 2 0.11648223645894 502 0 0 20 40637379 40637379 C T SNP ENSG00000225458 ENST00000431589 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors RP5-1121H13.4 Clone_based_vega_gene ENSG00000225458 tier4 1215 1 0.0821692686935086 790 623 44.0594059405941 502 143 22.0338983050847 20 42037802 42037802 A C SNP SRSF6 ENST00000244020 human ensembl 70_37 +1 known 5_prime_flanking_region c.-48872 NULL 0.048 - - - no_errors SRSF6 HGNC ENSG00000124193 tier4 352 0 0 501 2 0.397614314115308 211 0 0 20 43467535 43467535 C T SNP RIMS4 ENST00000541604 human ensembl 70_37 -1 known 5_prime_flanking_region c.-28623 NULL 0.020 - - - no_errors RIMS4 HGNC ENSG00000101098 tier3 1064 0 0 862 727 45.7520453115167 443 107 19.4545454545455 20 44191212 44191212 A C SNP WFDC8 ENST00000289953 human ensembl 70_37 -1 known intronic c.27-354 e2-354 0.018 - - - no_errors WFDC8 HGNC ENSG00000158901 tier3 478 0 0 653 3 0.457317073170732 295 3 1.00671140939597 20 45811814 45811814 A G SNP EYA2 ENST00000327619 human ensembl 70_37 +1 known intronic c.1436-125 e14-125 0.000 - - - no_errors EYA2 HGNC ENSG00000064655 tier4 557 1 0.17921146953405 455 341 42.8391959798995 285 50 14.9253731343284 20 46150321 46150321 A G SNP NCOA3 ENST00000371998 human ensembl 70_37 +1 known intronic c.1+19558 e0+19558 0.465 - - - no_errors NCOA3 HGNC ENSG00000124151 tier4 332 0 0 453 1 0.220264317180617 246 2 0.806451612903226 20 47191549 47191549 G A SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known 3_prime_flanking_region c.*50874 NULL 0.000 - - - no_errors PREX1 HGNC ENSG00000124126 tier3 751 0 0 603 488 44.7296058661778 350 60 14.6341463414634 20 48835477 48835477 T C SNP LOC100506115 ENST00000425497 human ensembl 70_37 +1 known 5_prime_flanking_region c.-48546 NULL 0.004 - - - no_errors RP11-290F20.3 Clone_based_vega_gene ENSG00000224397 tier4 378 0 0 539 3 0.553505535055351 224 1 0.444444444444444 20 49597366 49597366 G T SNP ADNP ENST00000396029 human ensembl 70_37 -1 known 5_prime_flanking_region c.-76833 NULL 0.001 - - - no_errors ADNP HGNC ENSG00000101126 tier4 725 0 0 1063 1 0.093984962406015 380 4 1.04166666666667 20 51441200 51441200 A G SNP ENSG00000232286 ENST00000426963 human ensembl 70_37 -1 known 3_prime_flanking_region c.*33677 NULL 0.000 - - - no_errors RP11-80K6.2 Clone_based_vega_gene ENSG00000232286 tier3 1659 0 0 1488 689 31.6200091785223 659 0 0 20 52764949 52764949 A G SNP CYP24A1 ENST00000216862 human ensembl 70_37 -1 known 3_prime_flanking_region c.*8769 NULL 0.001 - - - no_errors CYP24A1 HGNC ENSG00000019186 tier4 349 0 0 462 3 0.643776824034335 234 3 1.26582278481013 20 52931190 52931190 G A SNP - - - - - - - - - - - - - - - - - - tier4 1001 0 0 779 577 42.5516224188791 389 67 14.6288209606987 20 53747120 53747120 C A SNP - - - - - - - - - - - - - - - - - - tier3 1132 0 0 830 628 43.0431802604524 486 79 13.9329805996473 20 53965717 53965717 T C SNP - - - - - - - - - - - - - - - - - - tier4 496 0 0 584 1 0.170940170940171 317 3 0.9375 20 54486496 54486496 T G SNP - - - - - - - - - - - - - - - - - - tier3 1274 0 0 1762 2 0.113378684807256 459 3 0.649350649350649 20 56443083 56443083 T C SNP MIR4532 ENST00000582082 human ensembl 70_37 +1 known 5_prime_flanking_region c.-27367 NULL 0.000 - - - no_errors MIR4532 HGNC ENSG00000263453 tier3 566 0 0 728 2 0.273972602739726 260 3 1.14068441064639 20 57423437 57423437 A C SNP GNAS ENST00000313949 human ensembl 70_37 +1 known intronic c.738+7496 e1+7496 0.025 - - - no_errors GNAS HGNC ENSG00000087460 tier3 421 0 0 544 6 1.09090909090909 207 5 2.35849056603774 20 59100894 59100894 C T SNP LOC729296 ENST00000437035 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors RP5-1043L13.1 Clone_based_vega_gene ENSG00000228340 tier4 1195 0 0 726 560 43.5458786936236 502 85 14.4312393887946 20 60097878 60097878 A T SNP CDH4 ENST00000360469 human ensembl 70_37 +1 known intronic c.170-220741 e3-220741 0.000 - - - no_errors CDH4 HGNC ENSG00000179242 tier2 947 0 0 1123 2 0.177777777777778 524 0 0 20 60189068 60189068 T G SNP CDH4 ENST00000360469 human ensembl 70_37 +1 known intronic c.170-129551 e3-129551 0.000 - - - no_errors CDH4 HGNC ENSG00000179242 tier3 928 0 0 1233 3 0.242522231204527 354 0 0 20 61082245 61082245 T G SNP GATA5 ENST00000252997 human ensembl 70_37 -1 known 5_prime_flanking_region c.-31668 NULL 0.000 - - - no_errors GATA5 HGNC ENSG00000130700 tier4 867 0 0 1235 6 0.48348106365834 432 4 0.91324200913242 20 61703197 61703197 A C SNP LINC00029 ENST00000370341 human ensembl 70_37 -1 known 5_prime_flanking_region c.-34817 NULL 0.001 - - - no_errors LINC00029 HGNC ENSG00000125514 tier2 271 0 0 367 4 1.07816711590297 147 0 0 20 61973713 61973713 A C SNP ENSG00000203900 ENST00000370257 human ensembl 70_37 +1 known 5_prime_flanking_region c.-17627 NULL 0.011 - - - no_errors RP11-261N11.8 Clone_based_vega_gene ENSG00000203900 tier4 1619 0 0 2392 2 0.0835421888053467 788 0 0 20 62236897 62236897 A G SNP GMEB2 ENST00000266068 human ensembl 70_37 -1 known intronic c.132-704 e2-704 0.536 - - - no_errors GMEB2 HGNC ENSG00000101216 tier4 758 0 0 1145 6 0.52128583840139 472 1 0.210526315789474 20 62708572 62708572 A C SNP RGS19 ENST00000332298 human ensembl 70_37 -1 known intronic c.1-265 e1-265 0.257 - - - no_errors RGS19 HGNC ENSG00000171700 tier3 194 0 0 291 2 0.68259385665529 108 0 0 21 10513818 10513818 A G SNP - - - - - - - - - - - - - - - - - - tier3 2719 0 0 3169 3 0.094577553593947 1315 6 0.454201362604088 21 10699142 10699142 A T SNP - - - - - - - - - - - - - - - - - - tier4 2002 1 0.0499251123315027 2490 2 0.0802568218298555 1071 10 0.923361034164358 21 10699573 10699573 A T SNP - - - - - - - - - - - - - - - - - - tier4 1901 0 0 2437 2 0.0819672131147541 1395 0 0 21 10702139 10702139 A G SNP - - - - - - - - - - - - - - - - - - tier4 1231 0 0 1567 3 0.191082802547771 861 2 0.23121387283237 21 10702214 10702214 A T SNP - - - - - - - - - - - - - - - - - - tier4 1178 0 0 1537 2 0.129954515919428 691 2 0.288600288600289 21 10704411 10704411 G C SNP - - - - - - - - - - - - - - - - - - tier4 3230 24 0.736874424316856 4491 21 0.464704580659438 1307 46 3.38983050847458 21 10710181 10710181 C T SNP - - - - - - - - - - - - - - - - - - tier4 334 0 0 455 4 0.871459694989107 157 0 0 21 10717648 10717648 A T SNP - - - - - - - - - - - - - - - - - - tier4 978 2 0.203873598369011 1173 1 0.0851788756388416 422 10 2.31481481481481 21 10720292 10720292 A G SNP - - - - - - - - - - - - - - - - - - tier4 1232 0 0 1608 4 0.248138957816377 576 2 0.346020761245675 21 10725048 10725048 A T SNP - - - - - - - - - - - - - - - - - - tier4 3168 0 0 4123 2 0.0484613520717228 2214 0 0 21 10725966 10725966 T A SNP - - - - - - - - - - - - - - - - - - tier4 468 0 0 686 2 0.290275761973875 414 0 0 21 10753805 10753805 T G SNP - - - - - - - - - - - - - - - - - - tier4 146 0 0 202 2 0.980392156862745 86 3 3.37078651685393 21 10757436 10757436 A C SNP - - - - - - - - - - - - - - - - - - tier4 349 0 0 371 3 0.802139037433155 160 2 1.23456790123457 21 10759886 10759886 C A SNP - - - - - - - - - - - - - - - - - - tier4 140 0 0 185 4 2.05128205128205 82 2 2.32558139534884 21 10759896 10759896 A G SNP - - - - - - - - - - - - - - - - - - tier4 160 0 0 218 5 2.24215246636771 96 2 2.04081632653061 21 10759910 10759910 G T SNP - - - - - - - - - - - - - - - - - - tier4 179 0 0 228 6 2.5531914893617 97 2 2.02020202020202 21 10759966 10759966 T A SNP - - - - - - - - - - - - - - - - - - tier4 205 0 0 235 3 1.25 85 0 0 21 10856514 10856514 C A SNP IGHV1OR21-1 ENST00000559480 human ensembl 70_37 +1 known 5_prime_flanking_region c.-6108 NULL 0.000 - - - no_errors IGHV1OR21-1 HGNC ENSG00000169861 tier4 1844 1 0.0541711809317443 2730 1 0.0365764447695684 1309 12 0.907715582450832 21 10856531 10856531 G T SNP IGHV1OR21-1 ENST00000559480 human ensembl 70_37 +1 known 5_prime_flanking_region c.-6091 NULL 0.000 - - - no_errors IGHV1OR21-1 HGNC ENSG00000169861 tier4 1698 0 0 2418 3 0.123813454395378 1047 4 0.378429517502365 21 10856544 10856544 T A SNP IGHV1OR21-1 ENST00000559480 human ensembl 70_37 +1 known 5_prime_flanking_region c.-6078 NULL 0.000 - - - no_errors IGHV1OR21-1 HGNC ENSG00000169861 tier4 1489 0 0 2077 1 0.0481231953801732 833 8 0.950118764845606 21 10856611 10856611 A G SNP IGHV1OR21-1 ENST00000559480 human ensembl 70_37 +1 known 5_prime_flanking_region c.-6011 NULL 0.000 - - - no_errors IGHV1OR21-1 HGNC ENSG00000169861 tier4 1542 0 0 2062 2 0.0968992248062015 732 2 0.272479564032698 21 10856735 10856735 G A SNP IGHV1OR21-1 ENST00000559480 human ensembl 70_37 +1 known 5_prime_flanking_region c.-5887 NULL 0.000 - - - no_errors IGHV1OR21-1 HGNC ENSG00000169861 tier4 2045 0 0 2683 2 0.0744324525493115 1759 9 0.507328072153326 21 10880930 10880930 T C SNP SLC25A15P4 ENST00000456889 human ensembl 70_37 +1 known 5_prime_flanking_region c.-18152 NULL 0.152 - - - no_coding_region:pseudogene SLC25A15P4 HGNC ENSG00000223925 tier4 712 0 0 981 2 0.203458799593082 400 0 0 21 10951564 10951564 A G SNP TPTE ENST00000361285 human ensembl 70_37 -1 known intronic c.285-137 e7-137 0.004 - - - no_errors TPTE HGNC ENSG00000166157 tier3 2453 0 0 3682 3 0.0813890396093326 918 6 0.647948164146868 21 11054246 11054246 A G SNP BAGE2 ENST00000470054 human ensembl 70_37 -1 known intronic c.NULL NULL 0.002 - - - no_errors BAGE2 HGNC ENSG00000187172 tier3 3007 0 0 4005 3 0.074831628835121 1668 0 0 21 11054672 11054672 T G SNP BAGE2 ENST00000470054 human ensembl 70_37 -1 known intronic c.NULL NULL 0.024 - - - no_errors BAGE2 HGNC ENSG00000187172 tier3 2022 0 0 2562 1 0.038971161340608 1477 2 0.135226504394861 21 14353635 14353635 A C SNP ENSG00000229306 ENST00000457565 human ensembl 70_37 -1 known 3_prime_flanking_region c.*18362 NULL 0.000 - - - no_errors AP001464.4 Clone_based_vega_gene ENSG00000229306 tier4 1573 0 0 2129 3 0.140712945590994 1243 0 0 21 14356489 14356489 T C SNP ENSG00000229306 ENST00000457565 human ensembl 70_37 -1 known 3_prime_flanking_region c.*15508 NULL 0.000 - - - no_errors AP001464.4 Clone_based_vega_gene ENSG00000229306 tier4 93 0 0 136 2 1.42857142857143 81 0 0 21 14364092 14364092 T G SNP ANKRD30BP2 ENST00000507941 human ensembl 70_37 +1 known 5_prime_flanking_region c.-46559 NULL 0.000 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 tier4 81 0 0 122 6 4.6875 62 2 3.125 21 15272758 15272758 A C SNP ANKRD20A11P ENST00000344693 human ensembl 70_37 -1 known 3_prime_flanking_region c.*43332 NULL 0.342 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 tier4 199 0 0 257 2 0.749063670411985 119 2 1.6260162601626 21 16101003 16101003 A C SNP ENSG00000226751 ENST00000435315 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33028 NULL 0.025 - - - no_errors AF127936.5 Clone_based_vega_gene ENSG00000226751 tier4 917 0 0 1323 3 0.226073850791258 471 0 0 21 16584435 16584435 T G SNP - - - - - - - - - - - - - - - - - - tier3 837 0 0 1146 2 0.173460537727667 392 3 0.759493670886076 21 16782143 16782143 A C SNP ENSG00000229425 ENST00000449602 human ensembl 70_37 -1 known 5_prime_flanking_region c.-7519 NULL 0.004 - - - no_errors AJ006998.2 Clone_based_vega_gene ENSG00000229425 tier4 1029 0 0 1326 2 0.150489089541008 556 0 0 21 17548301 17548301 A G SNP LINC00478 ENST00000400178 human ensembl 70_37 +1 known intronic c.NULL NULL 0.001 - - - no_errors LINC00478 HGNC ENSG00000215386 tier4 1108 0 0 838 677 44.6864686468647 500 98 16.3879598662207 21 17685092 17685092 A G SNP LINC00478 ENST00000400178 human ensembl 70_37 +1 known intronic c.NULL NULL 0.003 - - - no_errors LINC00478 HGNC ENSG00000215386 tier4 537 0 0 636 3 0.469483568075117 234 2 0.847457627118644 21 18082370 18082370 G A SNP ENSG00000239023 ENST00000458992 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-8947 NULL 0.770 - - - no_errors U1 RFAM ENSG00000239023 tier3 673 0 0 891 4 0.438116100766703 387 6 1.51898734177215 21 18366401 18366401 G T SNP - - - - - - - - - - - - - - - - - - tier3 1007 1 0.0992063492063492 1150 126 9.85915492957746 598 0 0 21 18475976 18475976 C T SNP - - - - - - - - - - - - - - - - - - tier3 1413 0 0 1286 578 31.0085836909871 563 0 0 21 18823936 18823936 C T SNP ENSG00000252613 ENST00000516804 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-1063 NULL 0.001 - - - no_errors U7 RFAM ENSG00000252613 tier3 1174 1 0.0851063829787234 1562 18 1.13924050632911 502 121 19.422150882825 21 19187523 19187523 T C SNP C21orf91 ENST00000284881 human ensembl 70_37 -1 known intronic c.127+2986 e1+2986 0.000 - - - no_errors C21orf91 HGNC ENSG00000154642 tier3 1474 2 0.13550135501355 986 912 48.0252764612954 467 140 22.9885057471264 21 19289526 19289526 T C SNP CHODL ENST00000400128 human ensembl 70_37 +1 known intronic c.1-11 e1-11 0.303 - - - no_errors CHODL HGNC ENSG00000154645 tier4 684 0 0 914 3 0.327153762268266 386 2 0.515463917525773 21 21125554 21125554 T G SNP ENSG00000229336 ENST00000282964 human ensembl 70_37 +1 known 3_prime_flanking_region c.*13090 NULL 0.016 - - - no_coding_region:pseudogene AP000568.2 Clone_based_vega_gene ENSG00000229336 tier4 913 0 0 1310 2 0.152439024390244 393 1 0.253807106598985 21 22106651 22106651 T G SNP LINC00320 ENST00000416768 human ensembl 70_37 -1 known 3_prime_flanking_region c.*8257 NULL 0.005 - - - no_errors LINC00320 HGNC ENSG00000224924 tier3 1000 0 0 1306 5 0.38109756097561 495 0 0 21 22346183 22346183 C T SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known 5_prime_flanking_region c.-24699 NULL 0.003 - - - no_errors NCAM2 HGNC ENSG00000154654 tier3 1164 0 0 1513 3 0.197889182058048 594 2 0.335570469798658 21 22361911 22361911 G A SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known 5_prime_flanking_region c.-8971 NULL 0.007 - - - no_errors NCAM2 HGNC ENSG00000154654 tier4 842 0 0 1073 18 1.64835164835165 320 91 22.0338983050847 21 22706897 22706897 T C SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known intronic c.738-928 e7-928 0.007 - - - no_errors NCAM2 HGNC ENSG00000154654 tier3 777 0 0 965 2 0.206825232678387 414 4 0.956937799043062 21 23043414 23043414 G T SNP ENSG00000237527 ENST00000416182 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors AF241725.6 Clone_based_vega_gene ENSG00000237527 tier4 675 0 0 793 5 0.6265664160401 359 5 1.37362637362637 21 23463518 23463518 T G SNP ENSG00000233215 ENST00000420255 human ensembl 70_37 -1 known intronic c.NULL NULL 0.011 - - - no_errors AP000472.2 Clone_based_vega_gene ENSG00000233215 tier4 426 0 0 518 2 0.384615384615385 252 0 0 21 24450331 24450331 A G SNP ENSG00000230972 ENST00000421604 human ensembl 70_37 +1 known intronic c.NULL NULL 0.363 - - - no_errors AP001255.2 Clone_based_vega_gene ENSG00000230972 tier4 1705 0 0 2244 2 0.0890471950133571 657 3 0.453172205438067 21 24998975 24998975 C G SNP - - - - - - - - - - - - - - - - - - tier4 898 0 0 582 510 46.6605672461116 406 90 18.1451612903226 21 25368592 25368592 T G SNP ENSG00000226996 ENST00000415269 human ensembl 70_37 +1 known 5_prime_flanking_region c.-46980 NULL 0.006 - - - no_errors AP000477.3 Clone_based_vega_gene ENSG00000226996 tier4 1611 1 0.0619962802231866 1061 837 44.0758293838863 569 150 20.8044382801664 21 26342957 26342957 G T SNP LOC339622 ENST00000441009 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors AP000235.2 Clone_based_vega_gene ENSG00000226983 tier3 929 0 0 616 500 44.8028673835125 381 76 16.557734204793 21 26442742 26442742 A G SNP ENSG00000232512 ENST00000418942 human ensembl 70_37 +1 known 5_prime_flanking_region c.-24613 NULL 0.006 - - - no_errors AP000233.2 Clone_based_vega_gene ENSG00000232512 tier3 552 0 0 688 3 0.434153400868307 244 1 0.408163265306122 21 26474401 26474401 C A SNP ENSG00000232512 ENST00000418942 human ensembl 70_37 +1 known intronic c.NULL NULL 0.007 - - - no_errors AP000233.2 Clone_based_vega_gene ENSG00000232512 tier4 610 0 0 852 2 0.233918128654971 268 5 1.83150183150183 21 26843908 26843908 A C SNP LINC00158 ENST00000332587 human ensembl 70_37 -1 known 5_prime_flanking_region c.-39895 NULL 0.001 - - - no_errors LINC00158 HGNC ENSG00000185433 tier3 891 0 0 1270 2 0.157232704402516 481 0 0 21 27024229 27024229 T G SNP JAM2 ENST00000312957 human ensembl 70_37 +1 known intronic c.67+12029 e1+12029 0.019 - - - no_errors JAM2 HGNC ENSG00000154721 tier3 1279 0 0 1765 3 0.169587337478802 585 1 0.170648464163823 21 29601824 29601824 T G SNP ENSG00000236532 ENST00000437194 human ensembl 70_37 -1 known 5_prime_flanking_region c.-1025 NULL 0.001 - - - no_errors AL035610.2 Clone_based_vega_gene ENSG00000236532 tier3 1478 1 0.0676132521974307 1036 841 44.8055407565264 514 142 21.6463414634146 21 29726545 29726545 A C SNP - - - - - - - - - - - - - - - - - - tier3 999 0 0 1319 2 0.151400454201363 449 1 0.222222222222222 21 30025715 30025715 T C SNP ENSG00000232855 ENST00000433310 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors AF131217.1 Clone_based_vega_gene ENSG00000232855 tier4 995 1 0.100401606425703 762 608 44.3795620437956 420 76 15.2610441767068 21 30978328 30978328 G A SNP GRIK1 ENST00000535441 human ensembl 70_37 -1 known intronic c.1103-4779 e8-4779 0.029 - - - no_errors GRIK1 HGNC ENSG00000171189 tier4 476 0 0 666 4 0.595238095238095 303 0 0 21 31584494 31584494 T C SNP CLDN17 ENST00000286808 human ensembl 70_37 -1 known 5_prime_flanking_region c.-45559 NULL 0.001 - - - no_errors CLDN17 HGNC ENSG00000156282 tier3 1741 0 0 1234 959 43.7101185050137 698 133 15.9663865546218 21 31773632 31773632 C A SNP KRTAP13-2 ENST00000399889 human ensembl 70_37 -1 known 5_prime_flanking_region c.-29101 NULL 0.000 - - - no_errors KRTAP13-2 HGNC ENSG00000182816 tier3 706 0 0 914 4 0.435729847494553 372 2 0.53475935828877 21 32010607 32010607 A T SNP KRTAP6-1 ENST00000329122 human ensembl 70_37 -1 known 5_prime_flanking_region c.-24384 NULL 0.001 - - - no_errors KRTAP6-1 HGNC ENSG00000184724 tier4 1247 0 0 1224 472 27.8137890394814 661 0 0 21 32437024 32437024 C T SNP KRTAP19-8 ENST00000382822 human ensembl 70_37 -1 known 5_prime_flanking_region c.-26262 NULL 0.003 - - - no_errors KRTAP19-8 HGNC ENSG00000206102 tier3 1083 2 0.184162062615101 817 660 44.6549391069012 514 83 13.8564273789649 21 32641235 32641235 T C SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known intronic c.1-1936 e1-1936 0.415 - - - no_errors TIAM1 HGNC ENSG00000156299 tier3 1745 0 0 1380 1202 46.5350367789392 709 165 18.8141391106043 21 33656402 33656402 C T SNP MIS18A ENST00000290130 human ensembl 70_37 -1 known 5_prime_flanking_region c.-5077 NULL 0.000 - - - no_errors MIS18A HGNC ENSG00000159055 tier3 511 0 0 322 291 47.4714518760196 240 40 14.2857142857143 21 35013041 35013041 G C SNP CRYZL1 ENST00000381554 human ensembl 70_37 -1 known intronic c.1+946 e0+946 0.000 - - - no_errors CRYZL1 HGNC ENSG00000205758 tier4 340 0 0 531 3 0.559701492537313 238 0 0 21 38429346 38429346 C T SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known 5_prime_flanking_region c.-30212 NULL 0.001 - - - no_errors TTC3 HGNC ENSG00000182670 tier3 533 0 0 372 299 44.5603576751118 307 59 16.120218579235 21 39305359 39305359 A G SNP KCNJ6 ENST00000288309 human ensembl 70_37 -1 known 5_prime_flanking_region c.-92375 NULL 0.100 - - - no_errors KCNJ6 HGNC ENSG00000157542 tier4 1240 0 0 899 698 43.6522826766729 531 114 17.6744186046512 21 40410931 40410931 A G SNP ENSG00000235888 ENST00000417335 human ensembl 70_37 -1 known 5_prime_flanking_region c.-32852 NULL 0.001 - - - no_errors AF064858.8 Clone_based_vega_gene ENSG00000235888 tier4 465 0 0 642 1 0.15552099533437 265 2 0.749063670411985 21 40600847 40600847 A C SNP BRWD1 ENST00000333229 human ensembl 70_37 -1 known intronic c.3126-339 e27-339 0.001 - - - no_errors BRWD1 HGNC ENSG00000185658 tier4 582 0 0 945 4 0.421496311907271 327 3 0.909090909090909 21 40934081 40934081 G A SNP B3GALT5 ENST00000380620 human ensembl 70_37 +1 known intronic c.1+5644 e0+5644 0.000 - - - no_errors B3GALT5 HGNC ENSG00000183778 tier4 1199 0 0 987 760 43.50314825415 513 95 15.625 21 41476086 41476086 A C SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known intronic c.3697-10285 e21-10285 0.000 - - - no_errors DSCAM HGNC ENSG00000171587 tier2 924 0 0 1247 5 0.399361022364217 313 2 0.634920634920635 21 41506442 41506442 A C SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known intronic c.3407-506 e19-506 0.006 - - - no_errors DSCAM HGNC ENSG00000171587 tier3 1100 0 0 757 534 41.3632842757552 387 98 20.2061855670103 21 42019103 42019103 C T SNP DSCAM ENST00000400454 human ensembl 70_37 -1 known intronic c.508+45633 e3+45633 0.000 - - - no_errors DSCAM HGNC ENSG00000171587 tier3 1399 3 0.213675213675214 916 731 44.3567961165049 525 115 17.9127725856698 21 42902226 42902226 A G SNP TMPRSS2 ENST00000489201 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_coding_region TMPRSS2 HGNC ENSG00000184012 tier3 1313 0 0 962 818 45.9292532285233 610 124 16.8937329700272 21 43898583 43898583 T G SNP RSPH1 ENST00000291536 human ensembl 70_37 -1 known intronic c.574-1029 e7-1029 0.000 - - - no_errors RSPH1 HGNC ENSG00000160188 tier4 822 0 0 1195 5 0.416666666666667 334 1 0.298507462686567 21 46483196 46483196 G A SNP ADARB1 ENST00000496664 human ensembl 70_37 +1 known 5_prime_flanking_region c.-108376 NULL 0.138 - - - no_errors ADARB1 HGNC ENSG00000197381 tier4 1182 3 0.252951096121417 878 752 46.050214329455 478 133 21.7675941080196 21 46861899 46861899 A T SNP COL18A1 ENST00000400337 human ensembl 70_37 +1 known intronic c.107-26257 e3-26257 0.091 - - - no_errors COL18A1 HGNC ENSG00000182871 tier3 240 0 0 246 97 28.2798833819242 156 0 0 21 46875534 46875534 G A SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known nonsense c.90 p.W30* 0.234 pfam_DUF959_COL18_N pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 235 0 0 219 79 26.510067114094 148 0 0 21 46875534 46875534 G A SNP COL18A1 ENST00000359759 human ensembl 70_37 +1 known nonsense c.90 p.W30* 0.234 pfam_DUF959_COL18_N pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 tier1 866 0 0 560 200 26.3157894736842 916 1 0.109051254089422 22 16555108 16555108 C T SNP ENSG00000265270 ENST00000581323 human ensembl 70_37 -1 novel 3_prime_flanking_region c.*21001 NULL 0.000 - - - no_errors AP000539.2 Clone_based_ensembl_gene ENSG00000265270 tier4 460 0 0 564 7 1.22591943957968 295 62 17.2701949860724 22 19714160 19714160 C G SNP TBX1 ENST00000329705 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33007 NULL 0.001 - - - no_errors TBX1 HGNC ENSG00000184058 tier2 260 0 0 263 2 0.754716981132075 185 8 4.04040404040404 22 21149482 21149482 C T SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known intronic c.2277+952 e18+952 0.088 - - - no_errors PI4KA HGNC ENSG00000241973 tier4 1085 0 0 1663 2 0.11997600479904 584 0 0 22 22100897 22100897 A T SNP YPEL1 ENST00000339468 human ensembl 70_37 -1 known 5_prime_flanking_region c.-35864 NULL 0.048 - - - no_errors YPEL1 HGNC ENSG00000100027 tier4 1263 0 0 1974 2 0.101112234580384 557 0 0 22 25121386 25121386 T G SNP PIWIL3 ENST00000332271 human ensembl 70_37 -1 known intronic c.2107+26 e16+26 0.000 - - - no_errors PIWIL3 HGNC ENSG00000184571 tier3 631 0 0 918 3 0.325732899022801 352 0 0 22 26079790 26079790 C T SNP ADRBK2 ENST00000324198 human ensembl 70_37 +1 known intronic c.748-1347 e10-1347 0.000 - - - no_errors ADRBK2 HGNC ENSG00000100077 tier4 704 0 0 997 3 0.2997002997003 349 2 0.56657223796034 22 26216796 26216796 A C SNP MYO18B ENST00000335473 human ensembl 70_37 +1 known intronic c.2522-2676 e12-2676 0.000 - - - no_errors MYO18B HGNC ENSG00000133454 tier4 505 0 0 690 3 0.432276657060519 299 0 0 22 26464418 26464418 G C SNP MYO18B ENST00000335473 human ensembl 70_37 +1 known 3_prime_flanking_region c.*40774 NULL 0.002 - - - no_errors MYO18B HGNC ENSG00000133454 tier4 666 0 0 807 4 0.493218249075216 326 0 0 22 27669144 27669144 G A SNP ENSG00000233521 ENST00000418271 human ensembl 70_37 -1 known 5_prime_flanking_region c.-48526 NULL 0.000 - - - no_errors RP5-1172A22.1 Clone_based_vega_gene ENSG00000233521 tier4 995 0 0 1186 30 2.46507806080526 528 0 0 22 27674684 27674684 T G SNP ENSG00000233574 ENST00000449126 human ensembl 70_37 +1 known intronic c.NULL NULL 0.000 - - - no_errors CTA-929C8.5 Clone_based_vega_gene ENSG00000233574 tier3 786 0 0 544 320 37.037037037037 292 41 12.3123123123123 22 27971734 27971734 A C SNP ENSG00000224027 ENST00000415655 human ensembl 70_37 -1 known 5_prime_flanking_region c.-2200 NULL 0.000 - - - no_errors RP1-231P7P.1 Clone_based_vega_gene ENSG00000224027 tier2 865 0 0 1175 2 0.169779286926995 449 0 0 22 29309292 29309292 C A SNP ZNRF3 ENST00000544604 human ensembl 70_37 +1 known intronic c.300+29238 e1+29238 0.016 - - - no_errors ZNRF3 HGNC ENSG00000183579 tier4 576 0 0 503 449 47.1638655462185 358 64 15.1658767772512 22 29705386 29705386 A C SNP GAS2L1 ENST00000403764 human ensembl 70_37 +1 known intronic c.633+658 e1+658 0.031 - - - no_errors GAS2L1 HGNC ENSG00000185340 tier3 181 0 0 287 3 1.03448275862069 156 0 0 22 29758621 29758621 A C SNP AP1B1 ENST00000357586 human ensembl 70_37 -1 known intronic c.143+369 e2+369 0.072 - - - no_errors AP1B1 HGNC ENSG00000100280 tier4 857 0 0 1341 2 0.148809523809524 420 0 0 22 29964962 29964962 C T SNP NIPSNAP1 ENST00000216121 human ensembl 70_37 -1 known intronic c.367+220 e4+220 0.013 - - - no_errors NIPSNAP1 HGNC ENSG00000184117 tier4 809 1 0.123456790123457 716 570 44.3234836702955 413 63 13.1799163179916 22 30312155 30312155 G T SNP MTMR3 ENST00000401950 human ensembl 70_37 +1 known intronic c.1+32807 e0+32807 0.021 - - - no_errors MTMR3 HGNC ENSG00000100330 tier3 1256 2 0.158982511923688 989 808 44.9388209121246 590 121 16.9705469845722 22 30947902 30947902 A G SNP SEC14L4 ENST00000255858 human ensembl 70_37 -1 known 5_prime_flanking_region c.-46304 NULL 0.011 - - - no_errors SEC14L4 HGNC ENSG00000133488 tier3 757 0 0 1225 3 0.244299674267101 432 0 0 22 31117569 31117569 A C SNP OSBP2 ENST00000332585 human ensembl 70_37 +1 known intronic c.645-19579 e2-19579 0.006 - - - no_errors OSBP2 HGNC ENSG00000184792 tier3 552 1 0.180505415162455 872 5 0.568828213879408 267 9 3.26086956521739 22 31561631 31561631 A C SNP RNF185 ENST00000326132 human ensembl 70_37 +1 known intronic c.1+5342 e0+5342 0.046 - - - no_errors RNF185 HGNC ENSG00000138942 tier3 561 0 0 912 6 0.65359477124183 352 6 1.67597765363128 22 31669691 31669691 T G SNP LIMK2 ENST00000331728 human ensembl 70_37 +1 known intronic c.1614+198 e14+198 0.001 - - - no_errors LIMK2 HGNC ENSG00000182541 tier4 722 0 0 1106 2 0.180505415162455 305 0 0 22 34157798 34157798 C T SNP LARGE ENST00000354992 human ensembl 70_37 -1 known intronic c.1-253 e1-253 0.000 - - - no_errors LARGE HGNC ENSG00000133424 tier4 1544 5 0.322788896061975 1043 876 45.625 541 96 15.0234741784038 22 36544119 36544119 A C SNP APOL3 ENST00000349314 human ensembl 70_37 -1 known intronic c.224-2472 e2-2472 0.003 - - - no_errors APOL3 HGNC ENSG00000128284 tier4 461 0 0 654 3 0.45662100456621 266 0 0 22 37411893 37411893 A G SNP TST ENST00000249042 human ensembl 70_37 -1 known intronic c.595+2286 e1+2286 0.000 - - - no_errors TST HGNC ENSG00000128311 tier3 648 0 0 903 3 0.33112582781457 347 0 0 22 38787549 38787549 A G SNP CSNK1E ENST00000400206 human ensembl 70_37 -1 known intronic c.1+6894 e0+6894 0.120 - - - no_errors CSNK1E HGNC ENSG00000213923 tier3 924 0 0 785 671 46.0851648351648 360 96 21.0526315789474 22 39264632 39264632 T G SNP CBX6 ENST00000407418 human ensembl 70_37 -1 known intronic c.247-1426 e5-1426 0.002 - - - no_errors CBX6 HGNC ENSG00000183741 tier2 829 0 0 1349 3 0.22189349112426 414 2 0.480769230769231 22 40656991 40656991 T G SNP TNRC6B ENST00000454349 human ensembl 70_37 +1 known intronic c.116-845 e4-845 0.049 - - - no_errors TNRC6B HGNC ENSG00000100354 tier3 1414 0 0 2352 2 0.0849256900212314 685 2 0.291120815138282 22 40797287 40797287 C T SNP SGSM3 ENST00000248929 human ensembl 70_37 +1 known intronic c.8-310 e2-310 0.012 - - - no_errors SGSM3 HGNC ENSG00000100359 tier4 729 0 0 563 562 49.8669032830523 300 92 23.2323232323232 22 41189056 41189056 T A SNP SLC25A17 ENST00000435456 human ensembl 70_37 -1 known intronic c.183-376 e4-376 0.000 - - - no_errors SLC25A17 HGNC ENSG00000100372 tier4 555 0 0 835 2 0.2389486260454 369 2 0.539083557951483 22 43297051 43297051 A C SNP PACSIN2 ENST00000263246 human ensembl 70_37 -1 known intronic c.61-7432 e2-7432 0.000 - - - no_errors PACSIN2 HGNC ENSG00000100266 tier3 726 0 0 1256 2 0.158856235107228 444 1 0.224719101123596 22 43666944 43666944 A C SNP SCUBE1 ENST00000360835 human ensembl 70_37 -1 known intronic c.485-8093 e5-8093 0.000 - - - no_errors SCUBE1 HGNC ENSG00000159307 tier3 213 0 0 330 2 0.600600600600601 126 0 0 22 44864788 44864788 T C SNP LDOC1L ENST00000341255 human ensembl 70_37 -1 known 3_prime_flanking_region c.*27929 NULL 0.018 - - - no_errors LDOC1L HGNC ENSG00000188636 tier4 1781 0 0 2512 2 0.0795544948289578 767 0 0 22 44962813 44962813 A G SNP LINC00207 ENST00000460077 human ensembl 70_37 +1 known 5_prime_flanking_region c.-3118 NULL 0.018 - - - no_errors LINC00207 HGNC ENSG00000187012 tier3 673 0 0 866 115 11.7227319062181 414 0 0 22 45148871 45148871 T G SNP ARHGAP8 ENST00000517296 human ensembl 70_37 +1 known intronic c.691+17829 e7+17829 0.000 - - - no_errors ARHGAP8 HGNC ENSG00000241484 tier2 490 0 0 446 209 31.9083969465649 423 0 0 22 47123729 47123729 C A SNP CERK ENST00000216264 human ensembl 70_37 -1 known intronic c.143-6817 e2-6817 0.002 - - - no_errors CERK HGNC ENSG00000100422 tier3 145 0 0 259 3 1.14503816793893 117 2 1.68067226890756 22 47282137 47282137 A G SNP TBC1D22A ENST00000337137 human ensembl 70_37 +1 known intronic c.709-5025 e6-5025 0.001 - - - no_errors TBC1D22A HGNC ENSG00000054611 tier3 695 1 0.14367816091954 481 363 43.0094786729858 305 64 17.3441734417344 22 48556830 48556830 C T SNP ENSG00000238192 ENST00000414483 human ensembl 70_37 -1 known 5_prime_flanking_region c.-20012 NULL 0.000 - - - no_errors LL22NC03-121E8.4 Clone_based_vega_gene ENSG00000238192 tier4 875 1 0.114155251141553 664 555 45.5291222313372 363 88 19.5121951219512 22 50437235 50437235 C T SNP IL17REL ENST00000341280 human ensembl 70_37 -1 known intronic c.601+485 e6+485 0.928 - - - no_errors IL17REL HGNC ENSG00000188263 tier3 473 0 0 344 310 47.4006116207951 258 67 20.6153846153846 GL000193.1 78283 78283 C T SNP ENSG00000215689 ENST00000400767 human ensembl 70_37 -1 known intronic c.79-2608 e2-2608 NULL - - - no_errors MGC39584 Uniprot_genename ENSG00000215689 tier3 232 0 0 259 8 2.99625468164794 213 4 1.84331797235023 GL000193.1 84319 84319 C G SNP ENSG00000215689 ENST00000400767 human ensembl 70_37 -1 known intronic c.78+3881 e1+3881 NULL - - - no_errors MGC39584 Uniprot_genename ENSG00000215689 tier3 281 0 0 291 6 2.0066889632107 200 0 0 GL000194.1 182496 182496 A C SNP - - - - - - - - - - - - - - - - - - tier3 2798 0 0 3761 5 0.129032258064516 1773 0 0 GL000198.1 642 642 G A SNP - - - - - - - - - - - - - - - - - - tier3 157 0 0 218 1 0.45662100456621 148 8 5.12820512820513 GL000199.1 23870 23870 A T SNP ENSG00000221597 ENST00000408670 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*22611 NULL NULL - - - no_errors BX088702.1 Clone_based_ensembl_gene ENSG00000221597 tier3 102 0 0 121 2 1.6260162601626 73 2 2.66666666666667 GL000199.1 34656 34656 A G SNP ENSG00000221597 ENST00000408670 human ensembl 70_37 +1 novel 3_prime_flanking_region c.*33397 NULL NULL - - - no_errors BX088702.1 Clone_based_ensembl_gene ENSG00000221597 tier3 199 0 0 301 2 0.66006600660066 68 0 0 GL000199.1 120781 120781 C G SNP - - - - - - - - - - - - - - - - - - tier3 88 0 0 163 2 1.20481927710843 52 0 0 GL000199.1 120832 120832 C A SNP - - - - - - - - - - - - - - - - - - tier3 112 0 0 184 2 1.0752688172043 67 0 0 GL000199.1 138193 138193 A T SNP - - - - - - - - - - - - - - - - - - tier3 70 0 0 123 2 1.6 39 0 0 GL000208.1 90627 90627 T A SNP - - - - - - - - - - - - - - - - - - tier3 832 0 0 1287 6 0.464037122969838 582 0 0 GL000208.1 92522 92522 C T SNP - - - - - - - - - - - - - - - - - - tier3 680 0 0 1173 3 0.255102040816327 499 2 0.397614314115308 GL000214.1 122769 122769 C T SNP - - - - - - - - - - - - - - - - - - tier3 295 0 0 421 7 1.63551401869159 249 0 0 GL000214.1 125087 125087 A G SNP - - - - - - - - - - - - - - - - - - tier3 1736 0 0 2562 3 0.116867939228672 1411 0 0 GL000214.1 125106 125106 A G SNP - - - - - - - - - - - - - - - - - - tier3 1773 0 0 2542 2 0.0785854616895874 1285 2 0.15527950310559 GL000214.1 127571 127571 A G SNP - - - - - - - - - - - - - - - - - - tier3 2566 0 0 3692 2 0.0541125541125541 2016 0 0 GL000214.1 127724 127724 C G SNP - - - - - - - - - - - - - - - - - - tier3 1601 0 0 2428 2 0.0821692686935086 709 0 0 GL000214.1 129051 129051 C T SNP - - - - - - - - - - - - - - - - - - tier3 1114 0 0 1641 12 0.725952813067151 779 2 0.255427841634738 GL000214.1 135071 135071 C T SNP - - - - - - - - - - - - - - - - - - tier3 617 0 0 840 11 1.29259694477086 345 0 0 GL000216.1 142007 142007 A C SNP - - - - - - - - - - - - - - - - - - tier3 119 0 0 173 2 1.09289617486339 80 2 2.4390243902439 GL000218.1 48327 48327 A T SNP ENSG00000215615 ENST00000400681 human ensembl 70_37 -1 known intronic c.58-7455 e2-7455 NULL - - - no_stop_codon AL354822.1 Clone_based_ensembl_gene ENSG00000215615 tier3 133 0 0 148 3 1.98675496688742 65 1 1.51515151515152 GL000219.1 110554 110554 C T SNP LOC100996779 ENST00000418749 human ensembl 70_37 -1 known 5_prime_flanking_region c.-22194 NULL NULL - - - no_errors AL592183.1 Clone_based_ensembl_gene ENSG00000220023 tier3 3261 0 0 4234 3 0.0707714083510262 1900 0 0 GL000220.1 102222 102222 T C SNP RNA5-8S5 ENST00000474885 human ensembl 70_37 +1 known 5_prime_flanking_region c.-9803 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000242716 tier3 2254 0 0 2868 3 0.104493207941484 709 0 0 GL000220.1 102652 102652 T G SNP RNA5-8S5 ENST00000474885 human ensembl 70_37 +1 known 5_prime_flanking_region c.-9373 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000242716 tier3 840 0 0 1063 2 0.187793427230047 394 3 0.755667506297229 GL000220.1 117287 117287 T G SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-38710 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 3037 0 0 3999 1 0.0249937515621095 2156 2 0.0925925925925926 GL000220.1 117356 117356 C G SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-38641 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 1829 0 0 2463 2 0.08110300081103 1173 0 0 GL000220.1 118266 118266 G C SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-37731 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 891 0 0 1101 2 0.180995475113122 655 0 0 GL000220.1 119231 119231 T C SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-36766 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 2564 0 0 3787 2 0.0527843758247559 833 2 0.239520958083832 GL000220.1 122620 122620 C A SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-33377 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 2522 0 0 3134 2 0.0637348629700446 1838 0 0 GL000220.1 124372 124372 T G SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-31625 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 2243 0 0 2995 4 0.133288903698767 1192 6 0.498338870431894 GL000220.1 125720 125720 T C SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-30277 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 3552 0 0 4774 2 0.0418497593638837 1892 1 0.0527148128624143 GL000220.1 128337 128337 C T SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-27660 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 1464 0 0 1927 2 0.103573278094252 469 0 0 GL000220.1 130387 130387 C T SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-25610 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 1546 0 0 1915 3 0.156331422615946 651 2 0.305343511450382 GL000220.1 130860 130860 A G SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-25137 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 1587 0 0 1964 3 0.152439024390244 596 2 0.334448160535117 GL000220.1 131614 131614 C T SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-24383 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 1133 0 0 1592 3 0.18796992481203 445 0 0 GL000220.1 134294 134294 C T SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-21703 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 3531 0 0 4473 2 0.0446627958910228 2399 2 0.0831946755407654 GL000220.1 134301 134301 C G SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-21696 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 3530 0 0 4494 2 0.0444642063139173 2353 0 0 GL000220.1 134473 134473 T C SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-21524 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 3159 0 0 4099 4 0.0974658869395711 2282 4 0.174901617839965 GL000220.1 135505 135505 G A SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-20492 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 2462 0 0 2799 2 0.0714030703320243 1506 4 0.2636783124588 GL000220.1 140390 140390 A G SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-15607 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 3263 0 0 4064 2 0.049176297024834 2396 0 0 GL000220.1 143676 143676 A G SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-12321 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 2309 0 0 3183 3 0.0940733772342427 938 0 0 GL000220.1 145311 145311 A G SNP RNA5-8S5 ENST00000459522 human ensembl 70_37 +1 known 5_prime_flanking_region c.-10686 NULL NULL - - - no_errors RNA5-8S5 HGNC ENSG00000241335 tier3 1874 0 0 2407 5 0.207296849087894 588 0 0 GL000224.1 490 490 A G SNP ENSG00000239196 ENST00000459457 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-42886 NULL NULL - - - no_errors AL591856.3 Clone_based_ensembl_gene ENSG00000239196 tier3 2210 0 0 2991 3 0.10016694490818 1395 0 0 GL000224.1 3349 3349 A C SNP ENSG00000239196 ENST00000459457 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-40027 NULL NULL - - - no_errors AL591856.3 Clone_based_ensembl_gene ENSG00000239196 tier3 2202 0 0 3343 3 0.0896592946802152 1325 0 0 GL000224.1 4143 4143 A G SNP ENSG00000239196 ENST00000459457 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-39233 NULL NULL - - - no_errors AL591856.3 Clone_based_ensembl_gene ENSG00000239196 tier3 952 0 0 1359 2 0.146627565982405 667 0 0 GL000224.1 5244 5244 A G SNP ENSG00000239196 ENST00000459457 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-38132 NULL NULL - - - no_errors AL591856.3 Clone_based_ensembl_gene ENSG00000239196 tier3 2107 0 0 3202 2 0.0624219725343321 1566 0 0 GL000224.1 5290 5290 A G SNP ENSG00000239196 ENST00000459457 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-38086 NULL NULL - - - no_errors AL591856.3 Clone_based_ensembl_gene ENSG00000239196 tier3 2130 0 0 2990 2 0.0668449197860963 1477 1 0.0674763832658569 GL000224.1 13827 13827 T C SNP ENSG00000239196 ENST00000459457 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-29549 NULL NULL - - - no_errors AL591856.3 Clone_based_ensembl_gene ENSG00000239196 tier3 834 0 0 1304 3 0.229533282325937 658 6 0.903614457831325 GL000225.1 7680 7680 T C SNP - - - - - - - - - - - - - - - - - - tier3 252 0 0 320 2 0.619195046439629 230 0 0 GL000225.1 40687 40687 T A SNP - - - - - - - - - - - - - - - - - - tier3 74 0 0 100 5 4.71698113207547 27 0 0 GL000225.1 58166 58166 C A SNP - - - - - - - - - - - - - - - - - - tier3 75 0 0 103 2 1.88679245283019 110 0 0 GL000225.1 75032 75032 T C SNP - - - - - - - - - - - - - - - - - - tier3 85 0 0 118 2 1.65289256198347 42 0 0 GL000225.1 75033 75033 G A SNP - - - - - - - - - - - - - - - - - - tier3 87 0 0 118 2 1.66666666666667 41 0 0 GL000225.1 92105 92105 G A SNP - - - - - - - - - - - - - - - - - - tier3 149 0 0 168 3 1.72413793103448 40 0 0 GL000225.1 92273 92273 G T SNP - - - - - - - - - - - - - - - - - - tier3 91 0 0 119 3 2.41935483870968 17 0 0 GL000225.1 99517 99517 T C SNP - - - - - - - - - - - - - - - - - - tier3 151 0 0 222 5 2.19298245614035 101 0 0 GL000225.1 140777 140777 G T SNP ENSG00000238850 ENST00000459529 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-42475 NULL NULL - - - no_errors U2 RFAM ENSG00000238850 tier3 133 0 0 164 2 1.19760479041916 107 2 1.8348623853211 GL000226.1 36 36 T G SNP - - - - - - - - - - - - - - - - - - tier3 155 0 0 200 4 1.91387559808612 80 0 0 GL000229.1 11101 11101 A T SNP ENSG00000238643 ENST00000459109 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-6184 NULL NULL - - - no_errors CT978678.1 Clone_based_ensembl_gene ENSG00000238643 tier3 1011 0 0 1210 14 1.1437908496732 571 2 0.347222222222222 GL000232.1 31308 31308 A G SNP - - - - - - - - - - - - - - - - - - tier3 1254 0 0 1600 2 0.124843945068664 689 0 0 MT 3380 3380 G A SNP MT-ND1 ENST00000361390 human ensembl 70_37 +1 known missense c.74 p.R25Q NULL pfam_NADH_UbQ_OxRdtase_su1/FPO pfam_NADH_UbQ_OxRdtase_su1/FPO - no_stop_codon MT-ND1 HGNC ENSG00000198888 tier1 395 0 0 113 3 2.58620689655172 64 0 0 X 188068 188068 G A SNP PLCXD1 ENST00000381657 human ensembl 70_37 +1 known 5_prime_flanking_region c.-12787 NULL 0.441 - - - no_errors PLCXD1 HGNC ENSG00000182378 tier3 156 0 0 297 2 0.668896321070234 143 4 2.68456375838926 X 1009817 1009817 C T SNP RPL14P5 ENST00000436474 human ensembl 70_37 -1 known 5_prime_flanking_region c.-38981 NULL 0.002 - - - no_coding_region:pseudogene RPL14P5 HGNC ENSG00000225661 tier3 794 0 0 652 551 45.8021612635079 426 82 16.1417322834646 X 11095899 11095899 C G SNP ENSG00000234129 ENST00000433747 human ensembl 70_37 -1 known intronic c.NULL NULL 0.001 - - - no_errors RP11-120D5.1 Clone_based_vega_gene ENSG00000234129 tier4 236 0 0 228 2 0.869565217391304 135 0 0 X 11563037 11563037 C T SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known intronic c.588+119324 e1+119324 0.034 - - - no_errors ARHGAP6 HGNC ENSG00000047648 tier3 699 0 0 45 731 94.0797940797941 208 95 31.3531353135314 X 12796510 12796510 A G SNP PRPS2 ENST00000398491 human ensembl 70_37 +1 known 5_prime_flanking_region c.-13107 NULL 0.039 - - - no_errors PRPS2 HGNC ENSG00000101911 tier3 532 0 0 697 4 0.56980056980057 170 2 1.16279069767442 X 12989004 12989004 C A SNP TMSB4X ENST00000380633 human ensembl 70_37 +1 known 5_prime_flanking_region c.-5377 NULL 0.000 - - - no_errors TMSB4X HGNC ENSG00000205542 tier4 834 0 0 1096 2 0.181818181818182 235 0 0 X 18080824 18080824 G A SNP ENSG00000225882 ENST00000453902 human ensembl 70_37 -1 known intronic c.NULL NULL 0.000 - - - no_errors RP3-410B11.1 Clone_based_vega_gene ENSG00000225882 tier4 345 0 0 24 375 93.984962406015 119 55 31.6091954022989 X 20027352 20027352 G T SNP MAP7D2 ENST00000379643 human ensembl 70_37 -1 known intronic c.2322-836 e17-836 0.001 - - - no_errors MAP7D2 HGNC ENSG00000184368 tier3 197 0 0 264 3 1.12359550561798 128 0 0 X 22481519 22481519 G C SNP ENSG00000233067 ENST00000455399 human ensembl 70_37 -1 known intronic c.NULL NULL 0.007 - - - no_errors RP11-40F8.2 Clone_based_vega_gene ENSG00000233067 tier4 968 0 0 75 900 92.3076923076923 238 113 32.1937321937322 X 22844928 22844928 C T SNP ENSG00000233067 ENST00000455399 human ensembl 70_37 -1 known intronic c.NULL NULL 0.029 - - - no_errors RP11-40F8.2 Clone_based_vega_gene ENSG00000233067 tier3 789 0 0 49 848 94.5373467112598 175 122 40.8026755852843 X 23013477 23013477 C T SNP ENSG00000233067 ENST00000455399 human ensembl 70_37 -1 known intronic c.NULL NULL 0.017 - - - no_errors RP11-40F8.2 Clone_based_vega_gene ENSG00000233067 tier3 748 0 0 47 772 94.2612942612943 164 126 43.448275862069 X 23762020 23762020 A C SNP ACOT9 ENST00000379295 human ensembl 70_37 -1 known intronic c.1-7887 e1-7887 0.000 - - - no_errors ACOT9 HGNC ENSG00000123130 tier4 522 0 0 698 4 0.56980056980057 289 0 0 X 27267778 27267778 A G SNP ENSG00000228933 ENST00000422048 human ensembl 70_37 -1 known intronic c.NULL NULL 0.980 - - - no_errors RP11-268G12.1 Clone_based_vega_gene ENSG00000228933 tier3 1050 0 0 1238 31 2.44286840031521 266 150 35.8851674641148 X 27500634 27500634 G A SNP ENSG00000238247 ENST00000367074 human ensembl 70_37 +1 known 5_prime_flanking_region c.-35367 NULL 0.020 - - - no_coding_region:pseudogene GS1-309P15.4 Clone_based_vega_gene ENSG00000238247 tier3 463 1 0.21551724137931 25 598 95.9871589085072 147 111 43.0232558139535 X 30525771 30525771 A T SNP - - - - - - - - - - - - - - - - - - tier3 595 0 0 786 2 0.253485424588086 280 1 0.354609929078014 X 31911789 31911789 T G SNP DMD ENST00000357033 human ensembl 70_37 -1 known intronic c.6913-18299 e48-18299 0.000 - - - no_errors DMD HGNC ENSG00000198947 tier3 543 0 0 622 4 0.638977635782748 200 0 0 X 33311782 33311782 A C SNP DMD ENST00000288447 human ensembl 70_37 -1 putative intronic c.7+45594 e1+45594 0.000 - - - no_errors DMD HGNC ENSG00000198947 tier3 710 0 0 926 1 0.107874865156419 278 2 0.714285714285714 X 33320344 33320344 C A SNP DMD ENST00000288447 human ensembl 70_37 -1 putative intronic c.7+37032 e1+37032 0.004 - - - no_errors DMD HGNC ENSG00000198947 tier4 509 0 0 466 145 23.7315875613748 240 0 0 X 39224480 39224480 A C SNP LOC286442 ENST00000429281 human ensembl 70_37 -1 known 5_prime_flanking_region c.-37865 NULL 0.000 - - - no_errors RP11-265P11.2 Clone_based_vega_gene ENSG00000235304 tier3 629 0 0 701 3 0.426136363636364 138 0 0 X 44049947 44049947 G A SNP EFHC2 ENST00000333807 human ensembl 70_37 -1 known intronic c.1752-12137 e12-12137 0.001 - - - no_errors EFHC2 HGNC ENSG00000183690 tier4 326 0 0 368 2 0.540540540540541 189 2 1.04712041884817 X 47326282 47326282 A C SNP ZNF41 ENST00000397050 human ensembl 70_37 -1 known intronic c.62+527 e1+527 0.000 - - - no_errors ZNF41 HGNC ENSG00000147124 tier3 295 0 0 468 1 0.212765957446809 157 2 1.25786163522013 X 61682351 61682351 G T SNP - - - - - - - - - - - - - - - - - - tier4 568 0 0 768 2 0.259403372243839 315 4 1.25391849529781 X 61685260 61685260 G T SNP - - - - - - - - - - - - - - - - - - tier4 1059 0 0 1423 4 0.279916025192442 637 2 0.312989045383412 X 61691170 61691170 G A SNP - - - - - - - - - - - - - - - - - - tier4 92 0 0 121 2 1.6260162601626 48 0 0 X 61728340 61728340 A G SNP - - - - - - - - - - - - - - - - - - tier4 125 0 0 198 2 1 60 1 1.63934426229508 X 66419680 66419680 A G SNP - - - - - - - - - - - - - - - - - - tier3 797 0 0 64 930 93.4673366834171 244 108 30.6818181818182 X 74028690 74028690 A G SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known intronic c.1-63158 e1-63158 0.002 - - - no_errors KIAA2022 HGNC ENSG00000050030 tier3 467 0 0 564 1 0.176991150442478 191 3 1.54639175257732 X 78956213 78956213 C T SNP - - - - - - - - - - - - - - - - - - tier3 641 0 0 51 626 92.466765140325 188 105 35.8361774744027 X 79754059 79754059 C A SNP ENSG00000230247 ENST00000431935 human ensembl 70_37 +1 known 5_prime_flanking_region c.-30477 NULL 0.240 - - - no_coding_region:pseudogene RP11-325E14.1 Clone_based_vega_gene ENSG00000230247 tier4 830 0 0 353 594 62.7243928194298 358 2 0.555555555555556 X 82883808 82883808 C T SNP - - - - - - - - - - - - - - - - - - tier4 613 0 0 55 549 90.7438016528926 184 85 31.5985130111524 X 82976895 82976895 T A SNP TERF1P4 ENST00000399580 human ensembl 70_37 -1 known 3_prime_flanking_region c.*26938 NULL 0.129 - - - no_coding_region:pseudogene TERF1P4 HGNC ENSG00000215102 tier4 593 0 0 589 44 6.95102685624013 266 2 0.746268656716418 X 83055550 83055550 A G SNP - - - - - - - - - - - - - - - - - - tier4 1368 2 0.145985401459854 90 1275 93.2699341623994 215 174 44.7300771208226 X 86087471 86087471 A T SNP DACH2 ENST00000373125 human ensembl 70_37 +1 known 3_prime_untranslated_region c.*313 NULL 0.998 - - - no_errors DACH2 HGNC ENSG00000126733 tier3 1381 0 0 89 1601 94.6777054997043 309 185 37.4493927125506 X 86681428 86681428 G T SNP ENSG00000230478 ENST00000445880 human ensembl 70_37 -1 known 5_prime_flanking_region c.-735 NULL 0.994 - - - no_coding_region:pseudogene RP1-52D1.1 Clone_based_vega_gene ENSG00000230478 tier2 420 0 0 486 3 0.613496932515337 182 0 0 X 86985860 86985860 A G SNP RPSAP9 ENST00000339991 human ensembl 70_37 -1 known 5_prime_flanking_region c.-26553 NULL 0.000 - - - no_coding_region:pseudogene RPSAP9 HGNC ENSG00000237506 tier3 525 1 0.190114068441065 41 509 92.5454545454545 157 94 37.4501992031873 X 91036803 91036803 C G SNP PCDH11X ENST00000395337 human ensembl 70_37 +1 known intronic c.1+2120 e0+2120 0.082 - - - no_errors PCDH11X HGNC ENSG00000102290 tier2 858 0 0 746 139 15.7062146892655 360 0 0 X 91480268 91480268 T A SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known intronic c.3114+23814 e3+23814 0.088 - - - no_errors PCDH11X HGNC ENSG00000102290 tier3 588 0 0 244 403 62.2874806800618 239 0 0 X 91809948 91809948 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known intronic c.3368-63315 e7-63315 0.000 - - - no_errors PCDH11X HGNC ENSG00000102290 tier4 767 0 0 288 441 60.4938271604938 307 0 0 X 93054611 93054611 A C SNP - - - - - - - - - - - - - - - - - - tier3 988 0 0 841 255 23.224043715847 463 0 0 X 93777813 93777813 C A SNP - - - - - - - - - - - - - - - - - - tier4 579 1 0.172413793103448 219 423 65.8878504672897 257 7 2.65151515151515 X 96191774 96191774 C A SNP DIAPH2 ENST00000324765 human ensembl 70_37 +1 known intronic c.1090-458 e11-458 0.000 - - - no_errors DIAPH2 HGNC ENSG00000147202 tier2 488 0 0 531 4 0.746268656716418 167 5 2.90697674418605 X 96826645 96826645 T G SNP DIAPH2 ENST00000324765 human ensembl 70_37 +1 known intronic c.3242-27607 e27-27607 0.004 - - - no_errors DIAPH2 HGNC ENSG00000147202 tier3 577 0 0 769 3 0.38860103626943 183 2 1.05820105820106 X 98392119 98392119 G A SNP - - - - - - - - - - - - - - - - - - tier4 458 1 0.217391304347826 32 426 92.8104575163399 124 82 39.8058252427184 X 99585722 99585722 T G SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known intronic c.2848+11179 e5+11179 0.000 - - - no_errors PCDH19 HGNC ENSG00000165194 tier3 669 0 0 807 4 0.492610837438424 284 0 0 X 99933645 99933645 A T SNP SYTL4 ENST00000491602 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SYTL4 HGNC ENSG00000102362 tier1 1016 0 0 78 1164 93.6444086886565 276 136 33.0097087378641 X 103948401 103948401 A C SNP IL1RAPL2 ENST00000344799 human ensembl 70_37 +1 known intronic c.82+44725 e1+44725 0.001 - - - no_errors IL1RAPL2 HGNC ENSG00000189108 tier4 668 0 0 52 733 93.375796178344 164 133 44.7811447811448 X 104289257 104289257 A T SNP IL1RAPL2 ENST00000344799 human ensembl 70_37 +1 known intronic c.83-150900 e2-150900 0.001 - - - no_errors IL1RAPL2 HGNC ENSG00000189108 tier4 807 0 0 939 1 0.106382978723404 304 34 10 X 105939819 105939819 T C SNP RNF128 ENST00000324342 human ensembl 70_37 +1 known intronic c.406+2181 e1+2181 0.000 - - - no_errors RNF128 HGNC ENSG00000133135 tier3 945 0 0 1083 34 3.04386750223814 273 123 31.0606060606061 X 108235237 108235237 A C SNP - - - - - - - - - - - - - - - - - - tier4 336 0 0 392 3 0.759493670886076 132 1 0.75187969924812 X 108515532 108515532 G A SNP - - - - - - - - - - - - - - - - - - tier4 504 0 0 556 16 2.78745644599303 195 0 0 X 110991469 110991469 G T SNP ALG13 ENST00000251943 human ensembl 70_37 +1 known intronic c.2384-4549 e22-4549 0.048 - - - no_errors ALG13 HGNC ENSG00000101901 tier4 195 0 0 229 3 1.29310344827586 83 1 1.19047619047619 X 112148641 112148641 A T SNP ENSG00000252930 ENST00000517121 human ensembl 70_37 +1 novel 5_prime_flanking_region c.-13719 NULL 0.001 - - - no_errors U6 RFAM ENSG00000252930 tier4 802 1 0.12453300124533 279 611 68.5746352413019 349 0 0 X 115239824 115239824 C A SNP API5P1 ENST00000424316 human ensembl 70_37 -1 known 5_prime_flanking_region c.-141 NULL 0.137 - - - no_coding_region:pseudogene API5P1 HGNC ENSG00000234558 tier4 648 0 0 698 31 4.24657534246575 152 91 37.4485596707819 X 115601008 115601008 T C SNP CXorf61 ENST00000371894 human ensembl 70_37 -1 known 5_prime_flanking_region c.-6991 NULL 0.000 - - - no_errors CXorf61 HGNC ENSG00000204019 tier4 839 0 0 54 821 93.8285714285714 156 64 29.0909090909091 X 122141733 122141733 C A SNP - - - - - - - - - - - - - - - - - - tier4 997 0 0 838 194 18.7802516940949 385 4 1.02827763496144 X 125227866 125227866 G A SNP ENSG00000237208 ENST00000438994 human ensembl 70_37 +1 known 5_prime_flanking_region c.-15879 NULL 0.015 - - - no_errors RP11-13E5.2 Clone_based_vega_gene ENSG00000237208 tier4 1001 1 0.0997008973080758 57 897 94.0251572327044 223 117 34.4117647058824 X 126293916 126293916 C T SNP - - - - - - - - - - - - - - - - - - tier3 967 0 0 79 917 92.0682730923695 235 131 35.5978260869565 X 129876082 129876082 C G SNP ENOX2 ENST00000338144 human ensembl 70_37 -1 known intronic c.1-32777 e1-32777 0.008 - - - no_errors ENOX2 HGNC ENSG00000165675 tier4 706 0 0 46 660 93.4844192634561 173 86 33.2046332046332 X 130370937 130370937 G A SNP IGSF1 ENST00000370903 human ensembl 70_37 -1 known 3_prime_flanking_region c.*36833 NULL 0.000 - - - no_errors IGSF1 HGNC ENSG00000147255 tier3 559 0 0 39 561 93.5 146 81 35.6828193832599 X 131485842 131485842 T G SNP ENSG00000232160 ENST00000421483 human ensembl 70_37 +1 known intronic c.NULL NULL 0.003 - - - no_errors RP5-842K24.2 Clone_based_vega_gene ENSG00000232160 tier4 555 0 0 32 550 94.5017182130584 137 88 39.1111111111111 X 132349052 132349052 A C SNP TFDP3 ENST00000310125 human ensembl 70_37 -1 known 3_prime_flanking_region c.*2018 NULL 0.041 - - - no_errors TFDP3 HGNC ENSG00000183434 tier3 517 0 0 634 1 0.15748031496063 178 5 2.73224043715847 X 144618404 144618404 G A SNP - - - - - - - - - - - - - - - - - - tier4 1043 5 0.476644423260248 86 1173 93.1691818903892 140 75 34.8837209302326 X 150211398 150211398 A G SNP ENSG00000212595 ENST00000391293 human ensembl 70_37 -1 novel 5_prime_flanking_region c.-16520 NULL 0.016 - - - no_errors 5S_rRNA RFAM ENSG00000212595 tier4 522 0 0 50 557 91.7627677100494 157 73 31.7391304347826 X 151118493 151118493 T G SNP LOC100507199 ENST00000411474 human ensembl 70_37 -1 known 5_prime_flanking_region c.-38566 NULL 0.019 - - - no_errors RP11-366F6.2 Clone_based_vega_gene ENSG00000229967 tier4 810 0 0 1031 2 0.193610842207164 320 0 0 Y 6434941 6434941 A T SNP TSPY17P ENST00000450329 human ensembl 70_37 +1 known 3_prime_flanking_region c.*45971 NULL 0.008 - - - no_coding_region:pseudogene TSPY17P HGNC ENSG00000232620 tier4 260 0 0 377 4 1.04166666666667 158 4 2.4390243902439 Y 9919157 9919157 G C SNP TSPY5P ENST00000456541 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-14162 NULL 0.001 - - - no_errors TSPY5P HGNC ENSG00000225685 tier4 129 0 0 170 6 3.38983050847458 38 0 0 Y 9919159 9919159 A T SNP TSPY5P ENST00000456541 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-14164 NULL 0.001 - - - no_errors TSPY5P HGNC ENSG00000225685 tier4 138 0 0 168 8 4.54545454545455 39 0 0 Y 9919186 9919186 C T SNP TSPY5P ENST00000456541 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-14191 NULL 0.005 - - - no_errors TSPY5P HGNC ENSG00000225685 tier4 119 0 0 165 4 2.35294117647059 41 0 0 Y 9924158 9924158 C A SNP TSPY5P ENST00000456541 human ensembl 70_37 -1 putative 5_prime_flanking_region c.-19163 NULL 0.005 - - - no_errors TSPY5P HGNC ENSG00000225685 tier4 111 0 0 159 2 1.24223602484472 36 0 0 Y 10043959 10043959 A T SNP ENSG00000226975 ENST00000413610 human ensembl 70_37 -1 known 5_prime_flanking_region c.-36036 NULL 0.037 - - - no_coding_region:pseudogene AC006987.6 Clone_based_vega_gene ENSG00000226975 tier4 300 0 0 459 7 1.4957264957265 125 2 1.5748031496063 Y 13279151 13279151 A C SNP - - - - - - - - - - - - - - - - - - tier4 2173 0 0 2837 2 0.0703482237073514 1146 0 0 Y 13458675 13458675 C G SNP ENSG00000259029 ENST00000553347 human ensembl 70_37 +1 known 5_prime_flanking_region c.-18558 NULL 0.000 - - - no_coding_region:pseudogene RP11-886I11.3 Clone_based_vega_gene ENSG00000259029 tier4 122 0 0 158 4 2.46913580246914 78 6 6.89655172413793 Y 13468369 13468369 A G SNP ENSG00000259029 ENST00000553347 human ensembl 70_37 +1 known 5_prime_flanking_region c.-8864 NULL 0.000 - - - no_coding_region:pseudogene RP11-886I11.3 Clone_based_vega_gene ENSG00000259029 tier4 122 0 0 182 2 1.08108108108108 75 0 0 Y 13468376 13468376 A G SNP ENSG00000259029 ENST00000553347 human ensembl 70_37 +1 known 5_prime_flanking_region c.-8857 NULL 0.000 - - - no_coding_region:pseudogene RP11-886I11.3 Clone_based_vega_gene ENSG00000259029 tier4 113 0 0 144 4 2.7027027027027 59 0 0 Y 13680776 13680776 G C SNP - - - - - - - - - - - - - - - - - - tier4 177 0 0 289 1 0.344827586206897 212 6 2.71493212669683 Y 13693361 13693361 A C SNP - - - - - - - - - - - - - - - - - - tier4 378 0 0 782 4 0.508259212198221 322 2 0.617283950617284 Y 13709295 13709295 G A SNP - - - - - - - - - - - - - - - - - - tier4 326 0 0 495 3 0.598802395209581 176 3 1.67597765363128 Y 13838790 13838790 G C SNP - - - - - - - - - - - - - - - - - - tier4 136 0 0 221 2 0.892857142857143 95 0 0 Y 13838835 13838835 C G SNP - - - - - - - - - - - - - - - - - - tier4 86 0 0 140 2 1.40845070422535 38 2 5 Y 13842940 13842940 C T SNP - - - - - - - - - - - - - - - - - - tier4 477 0 0 832 4 0.478468899521531 330 0 0 Y 13864930 13864930 G A SNP RCC2P1 ENST00000452257 human ensembl 70_37 -1 known 3_prime_flanking_region c.*36828 NULL 0.000 - - - no_coding_region:pseudogene RCC2P1 HGNC ENSG00000234385 tier4 70 0 0 142 3 2.05479452054795 48 2 3.84615384615385 Y 13864951 13864951 G T SNP RCC2P1 ENST00000452257 human ensembl 70_37 -1 known 3_prime_flanking_region c.*36807 NULL 0.000 - - - no_coding_region:pseudogene RCC2P1 HGNC ENSG00000234385 tier4 65 0 0 108 2 1.81818181818182 32 0 0 Y 13864958 13864958 A G SNP RCC2P1 ENST00000452257 human ensembl 70_37 -1 known 3_prime_flanking_region c.*36800 NULL 0.000 - - - no_coding_region:pseudogene RCC2P1 HGNC ENSG00000234385 tier4 57 0 0 102 2 1.92307692307692 26 0 0 Y 13864961 13864961 G T SNP RCC2P1 ENST00000452257 human ensembl 70_37 -1 known 3_prime_flanking_region c.*36797 NULL 0.000 - - - no_coding_region:pseudogene RCC2P1 HGNC ENSG00000234385 tier4 54 0 0 100 2 1.96078431372549 19 0 0 Y 13868256 13868256 G A SNP RCC2P1 ENST00000452257 human ensembl 70_37 -1 known 3_prime_flanking_region c.*33502 NULL 0.000 - - - no_coding_region:pseudogene RCC2P1 HGNC ENSG00000234385 tier4 94 0 0 126 3 2.32558139534884 61 0 0 Y 13868564 13868564 T C SNP RCC2P1 ENST00000452257 human ensembl 70_37 -1 known 3_prime_flanking_region c.*33194 NULL 0.000 - - - no_coding_region:pseudogene RCC2P1 HGNC ENSG00000234385 tier4 145 0 0 250 2 0.790513833992095 149 0 0 Y 22121792 22121792 T G SNP RCC2P2 ENST00000422174 human ensembl 70_37 -1 known 3_prime_flanking_region c.*26669 NULL 0.359 - - - no_coding_region:pseudogene RCC2P2 HGNC ENSG00000237997 tier4 291 0 0 426 3 0.699300699300699 166 1 0.598802395209581 Y 23885883 23885883 C A SNP USP9YP8 ENST00000441913 human ensembl 70_37 -1 known 5_prime_flanking_region c.-42879 NULL 0.000 - - - no_coding_region:pseudogene USP9YP8 HGNC ENSG00000229416 tier4 391 0 0 583 1 0.171232876712329 194 5 2.51256281407035 Y 28805580 28805580 A G SNP FAM58CP ENST00000435741 human ensembl 70_37 -1 known 5_prime_flanking_region c.-32274 NULL 0.000 - - - no_coding_region:pseudogene FAM58CP HGNC ENSG00000231514 tier4 437 0 0 631 1 0.158227848101266 252 4 1.5625 Y 58905093 58905093 T A SNP - - - - - - - - - - - - - - - - - - tier4 119 0 0 187 4 2.09424083769634 64 0 0 Y 58906667 58906667 T C SNP - - - - - - - - - - - - - - - - - - tier4 75 0 0 121 2 1.6260162601626 37 0 0 Y 58916090 58916090 T C SNP - - - - - - - - - - - - - - - - - - tier4 850 0 0 1238 2 0.16116035455278 751 0 0 Y 58983300 58983300 T C SNP CTBP2P1 ENST00000431853 human ensembl 70_37 +1 known 5_prime_flanking_region c.-18091 NULL 0.000 - - - no_coding_region:pseudogene CTBP2P1 HGNC ENSG00000235857 tier4 743 0 0 940 5 0.528541226215645 483 2 0.412371134020619 Y 59004849 59004849 C A SNP CTBP2P1 ENST00000431853 human ensembl 70_37 +1 known 3_prime_flanking_region c.*3214 NULL 0.015 - - - no_coding_region:pseudogene CTBP2P1 HGNC ENSG00000235857 tier4 2853 1 0.0350140056022409 3630 2 0.0550509221029452 2142 12 0.557103064066852 Y 59024227 59024227 A G SNP CTBP2P1 ENST00000431853 human ensembl 70_37 +1 known 3_prime_flanking_region c.*22592 NULL 0.944 - - - no_coding_region:pseudogene CTBP2P1 HGNC ENSG00000235857 tier4 577 0 0 689 1 0.144927536231884 437 5 1.13122171945701