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. 2021 Aug 4;22:592. doi: 10.1186/s12864-021-07876-9

Table 1.

Shown are the results of exome sequencing in the 12 tumor nodules. Relevant information are given such as the position in thechromosome, the reference and alternative alleles, the type of mutation, the amino acid substitution and variant allele frequency

TUMOR_SAMPLE NORMAL_SAMPLE CHROM POS REF ALT GENE EFFECT Alteration (cDNA) Alteration (AA) Depth in tumor Variant allele fraction
368N4 368muscle 1 65050991 C T Cryge missense_variant c.31G>A p.Gly11Ser 58 8.80%
357N1 357muscle 1 85577158 G C G530012D18Rik missense_variant c.283G>C p.Glu95Gln 15 26.70%
368N2 368muscle 1 86426453 C A 1700019O17Rik missense_variant c.83C>A p.Ala28Asp 42 7.10%
373N4 373muscle 1 92942579 C A Capn10 missense_variant c.786C>A p.His262Gln 48 6.30%
373N4 373muscle 1 1.06E+08 C T Phlpp1 stop_gained c.4243C>T p.Arg1415* 110 21.80%
358N3 358muscle 1 1.28E+08 C A Lct missense_variant c.3054G>T p.Met1018Ile 43 7.00%
373N4 373muscle 1 1.31E+08 C A Pfkfb2 missense_variant c.619G>T p.Asp207Tyr 89 4.50%
358N3 358muscle 1 1.66E+08 C A Gm4846 missense_variant c.1305G>T p.Met435Ile 72 5.60%
358N3 358muscle 1 1.67E+08 G T Aldh9a1 missense_variant c.712G>T p.Ala238Ser 44 6.80%
368N2 368muscle 1 1.81E+08 C A Acbd3 missense_variant c.337C>A p.His113Asn 25 12.00%
358N3 358muscle 2 13486755 C A Cubn missense_variant&splice_region_variant c.480G>T p.Lys160Asn 47 6.40%
357N1 357muscle 2 25911320 C A Kcnt1 synonymous_variant c.3409C>A p.Arg1137Arg 35 8.60%
368N2 368muscle 2 58982966 G T Ccdc148 missense_variant c.614C>A p.Ala205Asp 28 10.70%
358N3 358muscle 2 66565161 C A Scn9a stop_gained c.538G>T p.Glu180* 24 12.50%
368N4 368muscle 2 1.04E+08 A C D430041D05Rik missense_variant c.1942T>G p.Leu648Val 267 13.10%
373N4 373muscle 2 1.12E+08 A G Olfr1308 missense_variant c.344T>C p.Leu115Pro 51 11.80%
368N2 368muscle 2 1.2E+08 C A Rpap1 missense_variant c.1903G>T p.Ala635Ser 34 8.80%
373N4 373muscle 2 1.2E+08 C A Pla2g4e missense_variant c.665G>T p.Cys222Phe 38 7.90%
373N3 373muscle 2 1.46E+08 C A Cfap61 missense_variant c.1976C>A p.Ala659Asp 46 6.50%
368N2 368muscle 2 1.53E+08 C A Asxl1 missense_variant c.3191C>A p.Pro1064Gln 84 4.80%
368N4 368muscle 2 1.62E+08 A G Ptprt synonymous_variant c.295T>C p.Leu99Leu 75 16.00%
368N2 368muscle 2 1.67E+08 C A B4galt5 missense_variant c.766G>T p.Ala256Ser 16 18.80%
368N2 368muscle 3 86780226 G T Lrba missense_variant c.8437G>T p.Ala2813Ser 48 6.30%
358N3 358muscle 3 88360373 G A Smg5 synonymous_variant c.2799G>A p.Arg933Arg 86 4.70%
357N1 357muscle 3 88367297 G A Paqr6 missense_variant c.685G>A p.Ala229Thr 22 18.20%
373N3 373muscle 3 1.03E+08 C A Csde1 missense_variant c.845C>A p.Pro282Gln 47 6.40%
357N5 357muscle 3 1.04E+08 C A Rsbn1 missense_variant c.1871C>A p.Ala624Asp 27 11.10%
358N3 358muscle 4 24536440 G T Mms22l synonymous_variant c.2028G>T p.Ala676Ala 77 5.20%
357N1 357muscle 4 40738329 G T Smu1 stop_gained c.1404C>A p.Cys468* 35 8.60%
358N3 358muscle 4 41034270 G T Aqp7 synonymous_variant c.888C>A p.Gly296Gly 17 17.60%
358N1 358muscle 4 56937908 C A Tmem245 missense_variant c.639G>T p.Leu213Phe 19 15.80%
358N2 358muscle 4 1.01E+08 G T Jak1 synonymous_variant c.1245C>A p.Leu415Leu 41 7.30%
368N4 368muscle 4 1.26E+08 C T Csf3r synonymous_variant c.2145C>T p.Ser715Ser 53 13.20%
358N3 358muscle 4 1.53E+08 G T Nphp4 synonymous_variant c.1500G>T p.Ser500Ser 46 6.50%
373N4 373muscle 4 1.54E+08 A G Cep104 missense_variant c.1544A>G p.Lys515Arg 121 4.10%
373N4 373muscle 4 1.55E+08 G A Plch2 synonymous_variant c.3087C>T p.Ala1029Ala 38 8.10%
373N3 373muscle 4 1.56E+08 A G Mib2 synonymous_variant c.966T>C p.Ala322Ala 102 5.90%
358N3 358muscle 4 1.56E+08 C A Agrn missense_variant c.4334G>T p.Arg1445Leu 46 6.50%
368N2 368muscle 5 34813050 C A Htt missense_variant c.1541C>A p.Ser514Tyr 50 6.00%
358N3 358muscle 5 63937830 C A Rell1 stop_gained c.292G>T p.Glu98* 83 4.80%
357N1 357muscle 5 1.12E+08 C A Hps4 synonymous_variant c.1359C>A p.Pro453Pro 39 7.70%
373N3 373muscle 5 1.22E+08 C A Rad9b missense_variant c.727G>T p.Ala243Ser 40 7.50%
368N2 368muscle 6 29283208 G T Fam71f2 missense_variant c.204G>T p.Met68Ile 35 8.60%
357N1 357muscle 6 89342587 G A Plxna1 missense_variant&splice_region_variant c.1735C>T p.Pro579Ser 31 9.70%
358N2 358muscle 6 91486900 C G Tmem43 missense_variant c.1156C>G p.Pro386Ala 89 5.60%
358N3 358muscle 6 92189633 C T Zfyve20 missense_variant c.2029G>A p.Ala677Thr 75 20.00%
373N4 373muscle 6 1.29E+08 G T BC048546 missense_variant c.2389C>A p.Pro797Thr 41 7.30%
358N3 358muscle 7 24710200 C A BC049730 missense_variant c.43C>A p.Leu15Met 28 10.70%
368N2 368muscle 7 29292075 C A Ppp1r14a missense_variant c.307C>A p.Pro103Thr 44 6.80%
368N2 368muscle 7 34204130 T C Gpi1 missense_variant c.1297A>G p.Thr433Ala 46 6.50%
373N3 373muscle 7 80738221 G A Iqgap1 missense_variant c.2677C>T p.Arg893Cys 46 6.50%
358N2 358muscle 7 1.18E+08 C G Xylt1 missense_variant c.2763C>G p.Cys921Trp 38 10.50%
368N4 368muscle 7 1.26E+08 G A Gsg1l synonymous_variant c.918C>T p.His306His 121 5.00%
368N2 368muscle 7 1.27E+08 C A Zfp768 missense_variant c.937G>T p.Gly313Cys 41 7.30%
373N1 373muscle 7 1.4E+08 G T Olfr525 missense_variant c.686G>T p.Arg229Leu 95 4.20%
368N2 368muscle 7 1.44E+08 C A Ppfia1 missense_variant c.2471G>T p.Ser824Ile 48 6.30%
373N1 373muscle 8 11517878 C G Cars2 missense_variant c.1216G>C p.Val406Leu 169 8.30%
368N2 368muscle 8 13955760 C A Tdrp stop_gained c.160G>T p.Glu54* 50 6.00%
368N2 368muscle 8 15041975 C T BB014433 missense_variant c.877G>A p.Val293Met 42 14.30%
358N3 358muscle 8 68358564 G T Csgalnact1 missense_variant c.1453C>A p.Pro485Thr 50 6.00%
373N4 373muscle 8 72346037 C A Eps15l1 missense_variant c.2509G>T p.Asp837Tyr 18 16.70%
373N4 373muscle 8 80730168 C T Smarca5 synonymous_variant c.444G>A p.Glu148Glu 91 5.50%
368N2 368muscle 8 95327967 G A Zfp319 missense_variant c.1607C>T p.Ala536Val 50 6.00%
358N3 358muscle 8 1.05E+08 G A Rrad missense_variant c.118C>T p.Pro40Ser 41 7.30%
358N3 358muscle 8 1.08E+08 G T Wwp2 missense_variant c.1034G>T p.Arg345Met 43 7.00%
358N3 358muscle 8 1.11E+08 C A Fuk missense_variant c.970G>T p.Gly324Cys 40 7.50%
358N3 358muscle 8 1.26E+08 C A Ntpcr synonymous_variant c.21C>A p.Leu7Leu 42 7.10%
357N1 357muscle 9 24582820 C A Dpy19l2 synonymous_variant c.2013G>T p.Val671Val 44 6.80%
358N2 358muscle 9 43311472 G A Trim29 synonymous_variant c.597G>A p.Leu199Leu 173 4.00%
357N5 357muscle 9 45450529 C T Dscaml1 missense_variant c.586C>T p.Arg196Cys 50 8.00%
368N8 368muscle 9 55168284 G A Ube2q2 missense_variant c.376G>A p.Asp126Asn 71 7.00%
368N8 368muscle 9 55168290 C T Ube2q2 missense_variant c.382C>T p.Pro128Ser 69 7.20%
373N1 373muscle 9 56260482 C T Peak1 missense_variant c.161G>A p.Arg54Gln 340 2.90%
358N3 358muscle 9 92287625 C A Plscr2 missense_variant c.127C>A p.Gln43Lys 97 4.10%
357N4 357muscle 9 1.08E+08 G C Bsn missense_variant c.4976C>G p.Pro1659Arg 47 21.30%
368N2 368muscle 10 20246611 C A Map7 missense_variant c.422C>A p.Ala141Asp 37 8.10%
358N3 358muscle 10 20322064 C G Bclaf1 missense_variant c.52C>G p.Gln18Glu 21 14.30%
368N2 368muscle 10 38966046 C A Lama4 missense_variant c.92C>A p.Ala31Glu 47 6.40%
358N2 358muscle 10 70534879 G A Fam13c missense_variant c.848G>A p.Ser283Asn 40 20.00%
357N5 357muscle 10 80773112 C A Dot1l missense_variant c.502C>A p.Gln168Lys 39 7.70%
373N4 373muscle 10 81420600 G A Nfic synonymous_variant c.229C>T p.Leu77Leu 150 8.70%
357N1 357muscle 10 1.27E+08 G T Mettl1 missense_variant c.577G>T p.Asp193Tyr 45 6.70%
373N4 373muscle 11 5707370 G A Mrps24 missense_variant c.148C>T p.Pro50Ser 97 4.10%
358N3 358muscle 11 60202880 C A Srebf1 synonymous_variant c.2232G>T p.Ser744Ser 74 5.60%
357N4 357muscle 11 69853226 A G Tnk1 missense_variant c.1306T>C p.Phe436Leu 114 30.70%
373N3 373muscle 11 78499753 C A Vtn missense_variant c.237C>A p.Asp79Glu 48 6.30%
368N4 368muscle 11 87889211 G A Olfr462 synonymous_variant c.684C>T p.His228His 50 6.00%
357N4 357muscle 11 98250228 A G Cdk12 missense_variant c.4294A>G p.Lys1432Glu 35 8.60%
368N2 368muscle 11 1.01E+08 A G Aoc2 synonymous_variant c.195A>G p.Thr65Thr 38 7.90%
368N2 368muscle 11 1.01E+08 A G Aoc2 missense_variant c.269A>G p.Asn90Ser 35 20.00%
357N4 357muscle 11 1.03E+08 C G Fzd2 synonymous_variant c.1419C>G p.Leu473Leu 109 28.40%
368N2 368muscle 11 1.08E+08 C A Helz synonymous_variant c.1356C>A p.Thr452Thr 32 9.40%
368N2 368muscle 12 4209383 C A Adcy3 synonymous_variant c.2659C>A p.Arg887Arg 44 9.10%
368N4 368muscle 12 33342134 C A Atxn7l1 synonymous_variant c.771C>A p.Thr257Thr 85 4.70%
368N4 368muscle 12 70246446 C A Trim9 synonymous_variant c.2310G>T p.Thr770Thr 67 6.00%
373N1 373muscle 12 72567232 G A Pcnxl4 synonymous_variant c.1950G>A p.Leu650Leu 47 6.40%
368N2 368muscle 12 82387603 C A Sipa1l1 missense_variant c.2146C>A p.Gln716Lys 29 10.30%
358N3 358muscle 12 1.02E+08 G T Slc24a4 synonymous_variant c.117G>T p.Leu39Leu 46 6.50%
368N2 368muscle 12 1.02E+08 C A Golga5 missense_variant c.197C>A p.Ala66Asp 49 6.10%
358N3 358muscle 13 73672769 G T Slc6a18 missense_variant c.695C>A p.Ala232Glu 26 11.50%
357N5 357muscle 13 73821238 G T Nkd2 missense_variant c.1108C>A p.Pro370Thr 46 6.50%
357N1 357muscle 13 93387596 C A Homer1 synonymous_variant c.648C>A p.Ala216Ala 25 12.00%
373N4 373muscle 14 7945932 G T Flnb missense_variant c.7336G>T p.Ala2446Ser 36 8.30%
368N4 368muscle 14 54907149 C T Slc22a17 synonymous_variant c.1128G>A p.Arg376Arg 99 4.00%
357N1 357muscle 14 55745048 C A Dhrs1 missense_variant c.20G>T p.Gly7Val 20 15.00%
358N3 358muscle 15 81692128 G T Chadl synonymous_variant c.2239C>A p.Arg747Arg 66 6.10%
358N3 358muscle 15 99104471 G T Dnajc22 missense_variant c.996G>T p.Gln332His 36 8.60%
373N4 373muscle 16 5240002 G T Alg1 synonymous_variant c.837G>T p.Leu279Leu 63 6.30%
368N4 368muscle 16 14233649 C A Myh11 missense_variant c.1292G>T p.Arg431Leu 74 5.40%
373N3 373muscle 16 23357761 C T St6gal1 missense_variant c.1103C>T p.Pro368Leu 155 5.80%
357N1 357muscle 16 45731773 G T Abhd10 missense_variant c.736C>A p.Gln246Lys 73 5.50%
373N4 373muscle 16 56000642 C A Zbtb11 missense_variant c.2101C>A p.Gln701Lys 38 7.90%
373N4 373muscle 16 96673771 G T Dscam missense_variant c.3590C>A p.Ala1197Glu 47 6.40%
368N2 368muscle 16 97576326 C A Tmprss2 missense_variant&splice_region_variant c.570G>T p.Lys190Asn 47 6.40%
373N4 373muscle 17 24265204 C A Abca17 missense_variant&splice_region_variant c.4938G>T p.Lys1646Asn 48 6.30%
358N3 358muscle 17 27101185 C A Itpr3 synonymous_variant c.3009C>A p.Pro1003Pro 97 5.20%
358N3 358muscle 17 28877021 C A Pnpla1 synonymous_variant c.415C>A p.Arg139Arg 50 6.00%
373N4 373muscle 17 28982146 T C Stk38 synonymous_variant c.555A>G p.Thr185Thr 39 25.60%
368N2 368muscle 17 34685203 G T Tnxb missense_variant c.3686G>T p.Gly1229Val 48 6.40%
357N4 357muscle 17 80145171 C A Galm missense_variant c.537C>A p.Phe179Leu 46 6.50%
368N2 368muscle 18 38259948 G T 0610009O20Rik missense_variant c.1204G>T p.Ala402Ser 20 15.00%
358N1 358muscle 18 42337039 C A Rbm27 missense_variant c.2900C>A p.Ser967Tyr 44 6.80%
358N3 358muscle 18 44886378 C A Ythdc2 missense_variant c.4213C>A p.Pro1405Thr 37 8.10%
368N4 368muscle 19 4733741 G A Sptbn2 missense_variant c.1741G>A p.Ala581Thr 213 5.20%
373N4 373muscle 19 8896787 A G Ints5 synonymous_variant c.2109A>G p.Leu703Leu 49 6.10%
373N4 373muscle 19 8896820 C T Ints5 synonymous_variant c.2142C>T p.Thr714Thr 42 9.50%
368N4 368muscle 19 8978064 G T Eef1g missense_variant c.1276G>T p.Val426Leu 24 12.50%
357N1 357muscle 19 34950052 G T Kif20b missense_variant c.2713G>T p.Ala905Ser 45 6.70%
373N3 373muscle 19 40072400 G A Cyp2c54 missense_variant c.298C>T p.Leu100Phe 101 5.00%
373N3 373muscle 19 50225150 G A Sorcs1 missense_variant c.2138C>T p.Ala713Val 47 6.40%
357N4 357muscle 19 55207920 C T Gucy2g missense_variant c.2582G>A p.Arg861His 244 6.10%
358N2 358muscle 19 56851528 C T Tdrd1 synonymous_variant c.2019C>T p.Asp673Asp 71 9.90%
358N2 358muscle X 6583974 A C Shroom4 missense_variant c.1187A>C p.Asn396Thr 26 15.40%
373N3 373muscle X 20936595 G A Elk1 synonymous_variant c.726C>T p.Gly242Gly 53 7.50%
358N3 358muscle X 56501662 G T Ddx26b missense_variant&splice_region_variant c.1775G>T p.Gly592Val 43 7.00%
357N1 357muscle X 1.67E+08 G T Tlr7 missense_variant c.2212C>A p.Gln738Lys 31 16.10%
357N5 357muscle 17 24267574 GCA G Abca17 frameshift_variant c.4476_4477delTG p.Ala1493fs 120 3.33%
358N1 358muscle 6 47554188 GTCA G Ezh2 disruptive_inframe_deletion c.558_560delTGA p.Asp187del 57 5.26%
358N1 358muscle 10 58223101 CA C AW822073 frameshift_variant c.1007delT p.Leu336fs 74 5.41%
358N1 358muscle 15 78935001 C CAAG Nol12 disruptive_inframe_insertion c.24_26dupGAA p.Lys9dup 13 30.77%
358N2 358muscle 11 3524692 CGTG C Smtn disruptive_inframe_deletion c.2115_2117delCAC p.Thr706del 208 2.88%
358N3 358muscle 2 1.55E+08 GT G Itch splice_donor_variant&intron_variant c.1430+2delT . 55 5.45%
358N3 358muscle 4 1.37E+08 GCTT G Zbtb40 inframe_deletion c.2461_2463delAAG p.Lys821del 134 3.73%
358N3 358muscle 5 1.11E+08 TTGC T Ep400 disruptive_inframe_deletion c.7974_7976delGCA p.Gln2659del 90 3.33%
358N3 358muscle 5 1.35E+08 ATC A Fkbp6 frameshift_variant c.927_928delGA p.Glu309fs 84 3.57%
358N3 358muscle 7 1.01E+08 GAC G Atg16l2 frameshift_variant c.972_973delGT p.Ser325fs 191 3.66%
358N3 358muscle 9 5302474 TC T Casp1 frameshift_variant c.396delC p.Lys133fs 64 6.25%
358N3 358muscle 10 1.1E+08 TGAA T Nav3 disruptive_inframe_deletion c.5574_5576delTTC p.Ser1859del 78 3.85%
358N3 358muscle 11 84860577 TG T Ggnbp2 frameshift_variant c.395delC p.Ala132fs 86 3.49%
358N3 358muscle 16 32793328 AATAG A Muc20 frameshift_variant c.1674_1677delCTAT p.Tyr559fs 76 3.95%
368N2 368muscle 12 1.04E+08 TAC T Serpina3k frameshift_variant c.1161_1162delAC p.Leu387fs 108 3.70%
368N4 368muscle 11 71182505 TGAA T Nlrp1b inframe_deletion c.508_510delTTC p.Phe170del 225 1.78%
373N3 373muscle 9 38449182 C CT Olfr902 frameshift_variant c.313dupT p.Cys105fs 131 3.82%
373N4 373muscle 2 85770217 CTG C Olfr1013 frameshift_variant c.425_426delGT p.Cys142fs 85 3.53%
373N4 373muscle 11 23745586 TG T Rel frameshift_variant c.695delC p.Ser232fs 67 4.48%
373N4 373muscle 12 76609154 GGC G Sptb frameshift_variant c.4151_4152delGC p.Arg1384fs 95 4.21%
373N4 373muscle 14 48659272 TCTG T Otx2 inframe_deletion c.325_327delCAG p.Gln109del 68 4.41%

Shown are the results of exome sequencing in the 12 tumor nodules. Relevant information are given such as the position in the chromosome, the reference and alternative alleles, the type of mutation, the amino acid substitution and variant allele frequency.