1 17991052 rs6695710 T C,G . . RS=6695710;RSPOS=17991052;dbSNPBuildID=116;SSR=0;SAO=0;VP=0x05010000080104051e000100;WGT=1;VC=SNV;SLO;NSM;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1,.];COMMON=0;EFF=EXON(MODIFIER|||||ARHGEF10L|processed_transcript|CODING|ENST00000469726|17|1),EXON(MODIFIER|||||ARHGEF10L|processed_transcript|CODING|ENST00000469726|17|2),EXON(MODIFIER|||||ARHGEF10L|processed_transcript|CODING|ENST00000475356|12|1),EXON(MODIFIER|||||ARHGEF10L|processed_transcript|CODING|ENST00000475356|12|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W694R|982|ARHGEF10L|protein_coding|CODING|ENST00000167825|15|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W764R|1052|ARHGEF10L|protein_coding|CODING|ENST00000375408|17|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W952R|1240|ARHGEF10L|protein_coding|CODING|ENST00000375415|24|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W952R|1240|ARHGEF10L|protein_coding|CODING|ENST00000452522|25|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W986R|1067|ARHGEF10L|protein_coding|CODING|ENST00000434513|25|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Cgg|W991R|1279|ARHGEF10L|protein_coding|CODING|ENST00000361221|26|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Ggg|W694G|982|ARHGEF10L|protein_coding|CODING|ENST00000167825|15|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Ggg|W764G|1052|ARHGEF10L|protein_coding|CODING|ENST00000375408|17|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Ggg|W952G|1240|ARHGEF10L|protein_coding|CODING|ENST00000375415|24|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Ggg|W952G|1240|ARHGEF10L|protein_coding|CODING|ENST00000452522|25|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Ggg|W986G|1067|ARHGEF10L|protein_coding|CODING|ENST00000434513|25|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgg/Ggg|W991G|1279|ARHGEF10L|protein_coding|CODING|ENST00000361221|26|2) 163, 1 65113568 rs6588100 T C,G . . RS=6588100;RSPOS=65113568;dbSNPBuildID=116;SSR=0;SAO=0;VP=0x050100000a0104051f000100;WGT=1;VC=SNV;SLO;NSM;REF;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0.001377,0.9986,.];COMMON=1;EFF=EXON(MODIFIER|||||CACHD1|processed_transcript|CODING|ENST00000470527|9|1),EXON(MODIFIER|||||CACHD1|processed_transcript|CODING|ENST00000470527|9|2),EXON(MODIFIER|||||CACHD1|processed_transcript|CODING|ENST00000495994|8|1),EXON(MODIFIER|||||CACHD1|processed_transcript|CODING|ENST00000495994|8|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M363T|1223|CACHD1|protein_coding|CODING|ENST00000290039|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aCg|M414T|1274|CACHD1|protein_coding|CODING|ENST00000371073|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aGg|M363R|1223|CACHD1|protein_coding|CODING|ENST00000290039|9|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTg/aGg|M414R|1274|CACHD1|protein_coding|CODING|ENST00000371073|9|2) 163, 1 144923728 rs371812177 G A . . RS=371812177;RSPOS=144923728;dbSNPBuildID=138;SSR=0;SAO=0;VP=0x050200000a01000002000100;WGT=1;VC=SNV;S3D;NSM;REF;OTHERKG;EFF=INTRON(MODIFIER||||136|PDE4DIP|protein_coding|CODING|ENST00000532801|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L244F|2346|PDE4DIP|protein_coding|CODING|ENST00000369354|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L244F|2362|PDE4DIP|protein_coding|CODING|ENST00000369356|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L244F|969|PDE4DIP|protein_coding|CODING|ENST00000369349|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L244F|988|PDE4DIP|protein_coding|CODING|ENST00000369351|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L310F|2240|PDE4DIP|protein_coding|CODING|ENST00000313382|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L31F|740|PDE4DIP|protein_coding|CODING|ENST00000479408|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L381F|2431|PDE4DIP|protein_coding|CODING|ENST00000530740|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L381F|2482|PDE4DIP|protein_coding|CODING|ENST00000369359|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L407F|1116|PDE4DIP|protein_coding|CODING|ENST00000529945|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ctc/Ttc|L407F|1132|PDE4DIP|protein_coding|CODING|ENST00000313431|2|1),UPSTREAM(MODIFIER||1663|||PDE4DIP|retained_intron|CODING|ENST00000496263||1),UPSTREAM(MODIFIER||1825|||PDE4DIP|processed_transcript|CODING|ENST00000467859||1),UPSTREAM(MODIFIER||4717|||PDE4DIP|retained_intron|CODING|ENST00000525886||1) 38,5, 1 144923728 rs369106087 GT G . . RS=369106087;RSPOS=144923730;dbSNPBuildID=138;SSR=0;SAO=0;VP=0x050200001201000002000200;WGT=1;VC=DIV;S3D;NSF;REF;OTHERKG;EFF=FRAME_SHIFT(HIGH||-/-|-243|2346|PDE4DIP|protein_coding|CODING|ENST00000369354|6|1),FRAME_SHIFT(HIGH||-/-|-243|2362|PDE4DIP|protein_coding|CODING|ENST00000369356|6|1),FRAME_SHIFT(HIGH||-/-|-243|969|PDE4DIP|protein_coding|CODING|ENST00000369349|6|1),FRAME_SHIFT(HIGH||-/-|-243|988|PDE4DIP|protein_coding|CODING|ENST00000369351|6|1),FRAME_SHIFT(HIGH||-/-|-309|2240|PDE4DIP|protein_coding|CODING|ENST00000313382|9|1),FRAME_SHIFT(HIGH||-/-|-30|740|PDE4DIP|protein_coding|CODING|ENST00000479408|2|1),FRAME_SHIFT(HIGH||-/-|-380|2431|PDE4DIP|protein_coding|CODING|ENST00000530740|9|1),FRAME_SHIFT(HIGH||-/-|-380|2482|PDE4DIP|protein_coding|CODING|ENST00000369359|9|1),FRAME_SHIFT(HIGH||-/-|-406|1116|PDE4DIP|protein_coding|CODING|ENST00000529945|2|1),FRAME_SHIFT(HIGH||-/-|-406|1132|PDE4DIP|protein_coding|CODING|ENST00000313431|2|1),INTRON(MODIFIER||||136|PDE4DIP|protein_coding|CODING|ENST00000532801|3|1),UPSTREAM(MODIFIER||1664|||PDE4DIP|retained_intron|CODING|ENST00000496263||1),UPSTREAM(MODIFIER||1826|||PDE4DIP|processed_transcript|CODING|ENST00000467859||1),UPSTREAM(MODIFIER||4718|||PDE4DIP|retained_intron|CODING|ENST00000525886||1) 38,5, 1 151740666 rs2495397 T G,C . . RS=2495397;RSPOS=151740666;RV;dbSNPBuildID=100;SSR=0;SAO=0;VP=0x05010000000100051f000100;WGT=1;VC=SNV;SLO;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0,.,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||11|||OAZ3|processed_transcript|CODING|ENST00000577465||1),DOWNSTREAM(MODIFIER||11|||OAZ3|processed_transcript|CODING|ENST00000577465||2),DOWNSTREAM(MODIFIER||1801|||RP11-98D18.2|sense_intronic|NON_CODING|ENST00000420382||1),DOWNSTREAM(MODIFIER||1801|||RP11-98D18.2|sense_intronic|NON_CODING|ENST00000420382||2),DOWNSTREAM(MODIFIER||1917|||TDRKH|nonsense_mediated_decay|CODING|ENST00000525790||1),DOWNSTREAM(MODIFIER||1917|||TDRKH|nonsense_mediated_decay|CODING|ENST00000525790||2),DOWNSTREAM(MODIFIER||3374||561|TDRKH|protein_coding|CODING|ENST00000368827||1),DOWNSTREAM(MODIFIER||3374||561|TDRKH|protein_coding|CODING|ENST00000368827||2),EXON(MODIFIER|||||RP11-98D18.3|antisense|NON_CODING|ENST00000512280|2|1),EXON(MODIFIER|||||RP11-98D18.3|antisense|NON_CODING|ENST00000512280|2|2),INTRON(MODIFIER||||66|OAZ3|protein_coding|CODING|ENST00000479764|2|1),INTRON(MODIFIER||||66|OAZ3|protein_coding|CODING|ENST00000479764|2|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttg/Gtg|L101V|190|OAZ3|protein_coding|CODING|ENST00000315067|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttg/Gtg|L101V|190|OAZ3|protein_coding|CODING|ENST00000321531|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttg/Gtg|L114V|203|OAZ3|protein_coding|CODING|ENST00000453029|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttg/Gtg|L8V|33|OAZ3|protein_coding|CODING|ENST00000582415|1|1|WARNING_TRANSCRIPT_NO_START_CODON),START_GAINED(LOW||||66|OAZ3|protein_coding|CODING|ENST00000400999|3|2),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L101|190|OAZ3|protein_coding|CODING|ENST00000315067|4|2),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L101|190|OAZ3|protein_coding|CODING|ENST00000321531|4|2),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L114|203|OAZ3|protein_coding|CODING|ENST00000453029|4|2),SYNONYMOUS_CODING(LOW|SILENT|Ttg/Ctg|L8|33|OAZ3|protein_coding|CODING|ENST00000582415|1|2|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||1190|||RP11-98D18.16|antisense|NON_CODING|ENST00000596133||1),UPSTREAM(MODIFIER||1190|||RP11-98D18.16|antisense|NON_CODING|ENST00000596133||2),UPSTREAM(MODIFIER||4626||267|MRPL9|protein_coding|CODING|ENST00000368830||1),UPSTREAM(MODIFIER||4626||267|MRPL9|protein_coding|CODING|ENST00000368830||2),UPSTREAM(MODIFIER||4694|||MRPL9|processed_transcript|CODING|ENST00000467306||1),UPSTREAM(MODIFIER||4694|||MRPL9|processed_transcript|CODING|ENST00000467306||2),UPSTREAM(MODIFIER||4701|||MRPL9|processed_transcript|CODING|ENST00000462783||1),UPSTREAM(MODIFIER||4701|||MRPL9|processed_transcript|CODING|ENST00000462783||2),UPSTREAM(MODIFIER||4706||233|MRPL9|protein_coding|CODING|ENST00000368829||1),UPSTREAM(MODIFIER||4706||233|MRPL9|protein_coding|CODING|ENST00000368829||2),UPSTREAM(MODIFIER||4800|||MRPL9|processed_transcript|CODING|ENST00000478926||1),UPSTREAM(MODIFIER||4800|||MRPL9|processed_transcript|CODING|ENST00000478926||2),UPSTREAM(MODIFIER||4856|||MRPL9|processed_transcript|CODING|ENST00000461182||1),UPSTREAM(MODIFIER||4856|||MRPL9|processed_transcript|CODING|ENST00000461182||2),UPSTREAM(MODIFIER||4856|||MRPL9|processed_transcript|CODING|ENST00000481777||1),UPSTREAM(MODIFIER||4856|||MRPL9|processed_transcript|CODING|ENST00000481777||2),UPSTREAM(MODIFIER||4856|||MRPL9|processed_transcript|CODING|ENST00000486707||1),UPSTREAM(MODIFIER||4856|||MRPL9|processed_transcript|CODING|ENST00000486707||2),UTR_5_PRIME(MODIFIER||||66|OAZ3|protein_coding|CODING|ENST00000400999|3|1) 129, 1 156565049 rs77528517 A C,G . . RS=77528517;RSPOS=156565049;dbSNPBuildID=131;SSR=0;SAO=0;VP=0x050100000a01040502000100;WGT=1;VC=SNV;SLO;NSM;REF;VLD;HD;GNO;OTHERKG;EFF=DOWNSTREAM(MODIFIER||1037|||GPATCH4|retained_intron|CODING|ENST00000498756||1),DOWNSTREAM(MODIFIER||1037|||GPATCH4|retained_intron|CODING|ENST00000498756||2),DOWNSTREAM(MODIFIER||1126||260|APOA1BP|protein_coding|CODING|ENST00000368234||1),DOWNSTREAM(MODIFIER||1126||260|APOA1BP|protein_coding|CODING|ENST00000368234||2),DOWNSTREAM(MODIFIER||1128|||APOA1BP|processed_transcript|CODING|ENST00000488840||1),DOWNSTREAM(MODIFIER||1128|||APOA1BP|processed_transcript|CODING|ENST00000488840||2),DOWNSTREAM(MODIFIER||1381||245|APOA1BP|protein_coding|CODING|ENST00000368233||1),DOWNSTREAM(MODIFIER||1381||245|APOA1BP|protein_coding|CODING|ENST00000368233||2),DOWNSTREAM(MODIFIER||188||263|GPATCH4|protein_coding|CODING|ENST00000415314||1),DOWNSTREAM(MODIFIER||188||263|GPATCH4|protein_coding|CODING|ENST00000415314||2),DOWNSTREAM(MODIFIER||2211|||GPATCH4|retained_intron|CODING|ENST00000506832||1),DOWNSTREAM(MODIFIER||2211|||GPATCH4|retained_intron|CODING|ENST00000506832||2),DOWNSTREAM(MODIFIER||2233|||APOA1BP|processed_transcript|CODING|ENST00000467374||1),DOWNSTREAM(MODIFIER||2233|||APOA1BP|processed_transcript|CODING|ENST00000467374||2),DOWNSTREAM(MODIFIER||2507|||GPATCH4|retained_intron|CODING|ENST00000527691||1),DOWNSTREAM(MODIFIER||2507|||GPATCH4|retained_intron|CODING|ENST00000527691||2),DOWNSTREAM(MODIFIER||2553||139|GPATCH4|protein_coding|CODING|ENST00000334588||1),DOWNSTREAM(MODIFIER||2553||139|GPATCH4|protein_coding|CODING|ENST00000334588||2),DOWNSTREAM(MODIFIER||2683|||GPATCH4|retained_intron|CODING|ENST00000531900||1),DOWNSTREAM(MODIFIER||2683|||GPATCH4|retained_intron|CODING|ENST00000531900||2),DOWNSTREAM(MODIFIER||341|||GPATCH4|retained_intron|CODING|ENST00000494414||1),DOWNSTREAM(MODIFIER||341|||GPATCH4|retained_intron|CODING|ENST00000494414||2),DOWNSTREAM(MODIFIER||349|||GPATCH4|processed_transcript|CODING|ENST00000497287||1),DOWNSTREAM(MODIFIER||349|||GPATCH4|processed_transcript|CODING|ENST00000497287||2),DOWNSTREAM(MODIFIER||3710|||GPATCH4|retained_intron|CODING|ENST00000525375||1),DOWNSTREAM(MODIFIER||3710|||GPATCH4|retained_intron|CODING|ENST00000525375||2),DOWNSTREAM(MODIFIER||410|||GPATCH4|nonsense_mediated_decay|CODING|ENST00000463513||1),DOWNSTREAM(MODIFIER||410|||GPATCH4|nonsense_mediated_decay|CODING|ENST00000463513||2),DOWNSTREAM(MODIFIER||460|||GPATCH4|retained_intron|CODING|ENST00000498641||1),DOWNSTREAM(MODIFIER||460|||GPATCH4|retained_intron|CODING|ENST00000498641||2),DOWNSTREAM(MODIFIER||463|||GPATCH4|retained_intron|CODING|ENST00000473910||1),DOWNSTREAM(MODIFIER||463|||GPATCH4|retained_intron|CODING|ENST00000473910||2),DOWNSTREAM(MODIFIER||463|||GPATCH4|retained_intron|CODING|ENST00000529520||1),DOWNSTREAM(MODIFIER||463|||GPATCH4|retained_intron|CODING|ENST00000529520||2),DOWNSTREAM(MODIFIER||823|||GPATCH4|processed_transcript|CODING|ENST00000531129||1),DOWNSTREAM(MODIFIER||823|||GPATCH4|processed_transcript|CODING|ENST00000531129||2),DOWNSTREAM(MODIFIER||824|||GPATCH4|nonsense_mediated_decay|CODING|ENST00000474904||1),DOWNSTREAM(MODIFIER||824|||GPATCH4|nonsense_mediated_decay|CODING|ENST00000474904||2),DOWNSTREAM(MODIFIER||958||288|APOA1BP|protein_coding|CODING|ENST00000368235||1),DOWNSTREAM(MODIFIER||958||288|APOA1BP|protein_coding|CODING|ENST00000368235||2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Ctt|F357L|370|GPATCH4|protein_coding|CODING|ENST00000368232|8|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Ctt|F362L|375|GPATCH4|protein_coding|CODING|ENST00000438976|8|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Gtt|F357V|370|GPATCH4|protein_coding|CODING|ENST00000368232|8|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Gtt|F362V|375|GPATCH4|protein_coding|CODING|ENST00000438976|8|1) 64,4,32, 1 156565049 rs72559129 A AAC,ACA . . RS=72559129;RSPOS=156565049;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x05010000000100010e000200;WGT=1;VC=DIV;SLO;GNO;KGPilot123;KGPROD;OTHERKG;EFF=DOWNSTREAM(MODIFIER||1036|||GPATCH4|retained_intron|CODING|ENST00000498756||1),DOWNSTREAM(MODIFIER||1036|||GPATCH4|retained_intron|CODING|ENST00000498756||2),DOWNSTREAM(MODIFIER||1127||260|APOA1BP|protein_coding|CODING|ENST00000368234||1),DOWNSTREAM(MODIFIER||1127||260|APOA1BP|protein_coding|CODING|ENST00000368234||2),DOWNSTREAM(MODIFIER||1129|||APOA1BP|processed_transcript|CODING|ENST00000488840||1),DOWNSTREAM(MODIFIER||1129|||APOA1BP|processed_transcript|CODING|ENST00000488840||2),DOWNSTREAM(MODIFIER||1382||245|APOA1BP|protein_coding|CODING|ENST00000368233||1),DOWNSTREAM(MODIFIER||1382||245|APOA1BP|protein_coding|CODING|ENST00000368233||2),DOWNSTREAM(MODIFIER||187||263|GPATCH4|protein_coding|CODING|ENST00000415314||1),DOWNSTREAM(MODIFIER||187||263|GPATCH4|protein_coding|CODING|ENST00000415314||2),DOWNSTREAM(MODIFIER||2210|||GPATCH4|retained_intron|CODING|ENST00000506832||1),DOWNSTREAM(MODIFIER||2210|||GPATCH4|retained_intron|CODING|ENST00000506832||2),DOWNSTREAM(MODIFIER||2234|||APOA1BP|processed_transcript|CODING|ENST00000467374||1),DOWNSTREAM(MODIFIER||2234|||APOA1BP|processed_transcript|CODING|ENST00000467374||2),DOWNSTREAM(MODIFIER||2506|||GPATCH4|retained_intron|CODING|ENST00000527691||1),DOWNSTREAM(MODIFIER||2506|||GPATCH4|retained_intron|CODING|ENST00000527691||2),DOWNSTREAM(MODIFIER||2552||139|GPATCH4|protein_coding|CODING|ENST00000334588||1),DOWNSTREAM(MODIFIER||2552||139|GPATCH4|protein_coding|CODING|ENST00000334588||2),DOWNSTREAM(MODIFIER||2682|||GPATCH4|retained_intron|CODING|ENST00000531900||1),DOWNSTREAM(MODIFIER||2682|||GPATCH4|retained_intron|CODING|ENST00000531900||2),DOWNSTREAM(MODIFIER||340|||GPATCH4|retained_intron|CODING|ENST00000494414||1),DOWNSTREAM(MODIFIER||340|||GPATCH4|retained_intron|CODING|ENST00000494414||2),DOWNSTREAM(MODIFIER||348|||GPATCH4|processed_transcript|CODING|ENST00000497287||1),DOWNSTREAM(MODIFIER||348|||GPATCH4|processed_transcript|CODING|ENST00000497287||2),DOWNSTREAM(MODIFIER||3709|||GPATCH4|retained_intron|CODING|ENST00000525375||1),DOWNSTREAM(MODIFIER||3709|||GPATCH4|retained_intron|CODING|ENST00000525375||2),DOWNSTREAM(MODIFIER||409|||GPATCH4|nonsense_mediated_decay|CODING|ENST00000463513||1),DOWNSTREAM(MODIFIER||409|||GPATCH4|nonsense_mediated_decay|CODING|ENST00000463513||2),DOWNSTREAM(MODIFIER||459|||GPATCH4|retained_intron|CODING|ENST00000498641||1),DOWNSTREAM(MODIFIER||459|||GPATCH4|retained_intron|CODING|ENST00000498641||2),DOWNSTREAM(MODIFIER||462|||GPATCH4|retained_intron|CODING|ENST00000473910||1),DOWNSTREAM(MODIFIER||462|||GPATCH4|retained_intron|CODING|ENST00000473910||2),DOWNSTREAM(MODIFIER||462|||GPATCH4|retained_intron|CODING|ENST00000529520||1),DOWNSTREAM(MODIFIER||462|||GPATCH4|retained_intron|CODING|ENST00000529520||2),DOWNSTREAM(MODIFIER||822|||GPATCH4|processed_transcript|CODING|ENST00000531129||1),DOWNSTREAM(MODIFIER||822|||GPATCH4|processed_transcript|CODING|ENST00000531129||2),DOWNSTREAM(MODIFIER||823|||GPATCH4|nonsense_mediated_decay|CODING|ENST00000474904||1),DOWNSTREAM(MODIFIER||823|||GPATCH4|nonsense_mediated_decay|CODING|ENST00000474904||2),DOWNSTREAM(MODIFIER||959||288|APOA1BP|protein_coding|CODING|ENST00000368235||1),DOWNSTREAM(MODIFIER||959||288|APOA1BP|protein_coding|CODING|ENST00000368235||2),FRAME_SHIFT(HIGH||-/GT|-356?|370|GPATCH4|protein_coding|CODING|ENST00000368232|8|1),FRAME_SHIFT(HIGH||-/GT|-361?|375|GPATCH4|protein_coding|CODING|ENST00000438976|8|1),FRAME_SHIFT(HIGH||-/TG|-356?|370|GPATCH4|protein_coding|CODING|ENST00000368232|8|2),FRAME_SHIFT(HIGH||-/TG|-361?|375|GPATCH4|protein_coding|CODING|ENST00000438976|8|2) 64,4,32, 1 162344390 rs164159 A C,G . . RS=164159;RSPOS=162344390;dbSNPBuildID=79;SSR=0;SAO=0;VP=0x050100000b0104051f000100;WGT=1;VC=SNV;SLO;NSM;REF;SYN;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0.005051,.,0.9949];COMMON=1;EFF=DOWNSTREAM(MODIFIER||4125||506|NOS1AP|protein_coding|CODING|ENST00000361897||1),DOWNSTREAM(MODIFIER||4125||506|NOS1AP|protein_coding|CODING|ENST00000361897||2),DOWNSTREAM(MODIFIER||4577||211|NOS1AP|protein_coding|CODING|ENST00000493151||1),DOWNSTREAM(MODIFIER||4577||211|NOS1AP|protein_coding|CODING|ENST00000493151||2),INTRON(MODIFIER||||170|C1orf226|protein_coding|CODING|ENST00000420220|2|1),INTRON(MODIFIER||||170|C1orf226|protein_coding|CODING|ENST00000420220|2|2),INTRON(MODIFIER||||179|RP11-565P22.6|protein_coding|CODING|ENST00000431696|2|1),INTRON(MODIFIER||||179|RP11-565P22.6|protein_coding|CODING|ENST00000431696|2|2),INTRON(MODIFIER|||||NOS1AP|nonsense_mediated_decay|CODING|ENST00000367932|1|1),INTRON(MODIFIER|||||NOS1AP|nonsense_mediated_decay|CODING|ENST00000367932|1|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaT/gaG|D78E|261|C1orf111|protein_coding|CODING|ENST00000367935|3|1),SYNONYMOUS_CODING(LOW|SILENT|gaT/gaC|D78|261|C1orf111|protein_coding|CODING|ENST00000367935|3|2),UPSTREAM(MODIFIER||4241||315|C1orf226|protein_coding|CODING|ENST00000426197||1),UPSTREAM(MODIFIER||4241||315|C1orf226|protein_coding|CODING|ENST00000426197||2),UTR_3_PRIME(MODIFIER|||||C1orf111|nonsense_mediated_decay|CODING|ENST00000493255|2|1),UTR_3_PRIME(MODIFIER|||||C1orf111|nonsense_mediated_decay|CODING|ENST00000493255|2|2) 163, 1 222802006 rs2936053 A G,C . . RS=2936053;RSPOS=222802006;RV;dbSNPBuildID=101;SSR=0;SAO=0;VP=0x050100000a0104051e000100;WGT=1;VC=SNV;SLO;NSM;REF;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.003214,0.9968,.];COMMON=1;EFF=EXON(MODIFIER|||||MIA3|processed_transcript|CODING|ENST00000470521|4|1),EXON(MODIFIER|||||MIA3|processed_transcript|CODING|ENST00000470521|4|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Cag|K482Q|1907|MIA3|protein_coding|CODING|ENST00000344441|4|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Cag|K482Q|1907|MIA3|protein_coding|CODING|ENST00000344922|4|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Cag|K482Q|500|MIA3|protein_coding|CODING|ENST00000344507|4|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Cag|K64Q|1013|MIA3|protein_coding|CODING|ENST00000354906|1|2|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K482E|1907|MIA3|protein_coding|CODING|ENST00000344441|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K482E|1907|MIA3|protein_coding|CODING|ENST00000344922|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K482E|500|MIA3|protein_coding|CODING|ENST00000344507|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aag/Gag|K64E|1013|MIA3|protein_coding|CODING|ENST00000354906|1|1|WARNING_TRANSCRIPT_INCOMPLETE) 163, 2 27535311 rs142286079 T G . . RS=142286079;RSPOS=27535311;dbSNPBuildID=134;SSR=0;SAO=0;VP=0x050000080001000402000100;WGT=1;VC=SNV;INT;HD;OTHERKG;EFF=DOWNSTREAM(MODIFIER||3272||110|MPV17|protein_coding|CODING|ENST00000399052||1),DOWNSTREAM(MODIFIER||4347|||MPV17|retained_intron|CODING|ENST00000486898||1),EXON(MODIFIER|||||MPV17|retained_intron|CODING|ENST00000481575|3|1),EXON(MODIFIER|||||MPV17|retained_intron|CODING|ENST00000489478|5|1),EXON(MODIFIER|||||MPV17|retained_intron|CODING|ENST00000492879|6|1),EXON(MODIFIER|||||MPV17|retained_intron|CODING|ENST00000495429|5|1),EXON(MODIFIER|||||MPV17|retained_intron|CODING|ENST00000497981|5|1),INTRON(MODIFIER||||113|MPV17|protein_coding|CODING|ENST00000405076|3|1),INTRON(MODIFIER||||114|MPV17|protein_coding|CODING|ENST00000428910|7|1),INTRON(MODIFIER||||120|MPV17|protein_coding|CODING|ENST00000357186|3|1),INTRON(MODIFIER||||120|MPV17|protein_coding|CODING|ENST00000430991|2|1),INTRON(MODIFIER||||170|MPV17|protein_coding|CODING|ENST00000402310|5|1),INTRON(MODIFIER||||171|MPV17|protein_coding|CODING|ENST00000403262|5|1),INTRON(MODIFIER||||176|MPV17|protein_coding|CODING|ENST00000233545|4|1),INTRON(MODIFIER||||176|MPV17|protein_coding|CODING|ENST00000380044|5|1),INTRON(MODIFIER||||191|MPV17|protein_coding|CODING|ENST00000405983|5|1),INTRON(MODIFIER||||99|MPV17|protein_coding|CODING|ENST00000402722|5|1),INTRON(MODIFIER|||||MPV17|nonsense_mediated_decay|CODING|ENST00000415514|5|1),INTRON(MODIFIER|||||MPV17|nonsense_mediated_decay|CODING|ENST00000426513|5|1),INTRON(MODIFIER|||||MPV17|retained_intron|CODING|ENST00000475085|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cCg|Q3P|66|MPV17|protein_coding|CODING|ENST00000435114|1|1|WARNING_TRANSCRIPT_NO_START_CODON),UPSTREAM(MODIFIER||3998||124|UCN|protein_coding|CODING|ENST00000296099||1) rs142286079,0, 92,29, 2 27535311 rs5830041 T TG . . RS=5830041;RSPOS=27535311;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x05010008000100011e000200;WGT=1;VC=DIV;SLO;INT;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||3271||110|MPV17|protein_coding|CODING|ENST00000399052||1),DOWNSTREAM(MODIFIER||4346|||MPV17|retained_intron|CODING|ENST00000486898||1),EXON(MODIFIER|||||MPV17|retained_intron|CODING|ENST00000481575|3|1),EXON(MODIFIER|||||MPV17|retained_intron|CODING|ENST00000489478|5|1),EXON(MODIFIER|||||MPV17|retained_intron|CODING|ENST00000492879|6|1),EXON(MODIFIER|||||MPV17|retained_intron|CODING|ENST00000495429|5|1),EXON(MODIFIER|||||MPV17|retained_intron|CODING|ENST00000497981|5|1),FRAME_SHIFT(HIGH||-/C|-3?|66|MPV17|protein_coding|CODING|ENST00000435114|1|1|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||113|MPV17|protein_coding|CODING|ENST00000405076|3|1),INTRON(MODIFIER||||114|MPV17|protein_coding|CODING|ENST00000428910|7|1),INTRON(MODIFIER||||120|MPV17|protein_coding|CODING|ENST00000357186|3|1),INTRON(MODIFIER||||120|MPV17|protein_coding|CODING|ENST00000430991|2|1),INTRON(MODIFIER||||170|MPV17|protein_coding|CODING|ENST00000402310|5|1),INTRON(MODIFIER||||171|MPV17|protein_coding|CODING|ENST00000403262|5|1),INTRON(MODIFIER||||176|MPV17|protein_coding|CODING|ENST00000233545|4|1),INTRON(MODIFIER||||176|MPV17|protein_coding|CODING|ENST00000380044|5|1),INTRON(MODIFIER||||191|MPV17|protein_coding|CODING|ENST00000405983|5|1),INTRON(MODIFIER||||99|MPV17|protein_coding|CODING|ENST00000402722|5|1),INTRON(MODIFIER|||||MPV17|nonsense_mediated_decay|CODING|ENST00000415514|5|1),INTRON(MODIFIER|||||MPV17|nonsense_mediated_decay|CODING|ENST00000426513|5|1),INTRON(MODIFIER|||||MPV17|retained_intron|CODING|ENST00000475085|2|1),UPSTREAM(MODIFIER||3999||124|UCN|protein_coding|CODING|ENST00000296099||1) 92,29, 2 71062833 rs11450450 G GC . . RS=11450450;RSPOS=71062833;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05010010000100011e000200;WGT=1;VC=DIV;SLO;DSS;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=FRAME_SHIFT(HIGH||-/G|-25?|328|CD207|protein_coding|CODING|ENST00000410009|1|1) 101,29, 2 72692272 rs5832083 A AAG . . RS=5832083;RSPOS=72692272;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.004132,0.9959];COMMON=1;EFF=FRAME_SHIFT(HIGH||-/CT|-666?|681|EXOC6B|protein_coding|CODING|ENST00000410104|18|1),INTRON(MODIFIER||||811|EXOC6B|protein_coding|CODING|ENST00000272427|18|1),INTRON(MODIFIER|||||EXOC6B|processed_transcript|CODING|ENST00000464347|3|1) 98,29, 2 95847040 rs75792069 TG T,TGCG . . RS=75792069;RSPOS=95847041;dbSNPBuildID=131;SSR=0;SAO=0;VP=0x050200001001000002000200;WGT=1;VC=DIV;S3D;NSF;OTHERKG;EFF=FRAME_SHIFT(HIGH||-/-|-114|384|ZNF2|protein_coding|CODING|ENST00000398107|4|1),FRAME_SHIFT(HIGH||-/-|-118|388|ZNF2|protein_coding|CODING|ENST00000295210|4|1),FRAME_SHIFT(HIGH||-/-|-156|426|ZNF2|protein_coding|CODING|ENST00000340539|5|1),FRAME_SHIFT(HIGH||-/-|-169|439|ZNF2|protein_coding|CODING|ENST00000453539|5|1),FRAME_SHIFT(HIGH||-/-|-76|346|ZNF2|protein_coding|CODING|ENST00000425369|3|1),FRAME_SHIFT(HIGH||-/CG|-115?|384|ZNF2|protein_coding|CODING|ENST00000398107|4|2),FRAME_SHIFT(HIGH||-/CG|-119?|388|ZNF2|protein_coding|CODING|ENST00000295210|4|2),FRAME_SHIFT(HIGH||-/CG|-157?|426|ZNF2|protein_coding|CODING|ENST00000340539|5|2),FRAME_SHIFT(HIGH||-/CG|-170?|439|ZNF2|protein_coding|CODING|ENST00000453539|5|2),FRAME_SHIFT(HIGH||-/CG|-77?|346|ZNF2|protein_coding|CODING|ENST00000425369|3|2) 125,32, 2 95847040 rs10578519 TGCG T . . RS=10578519;RSPOS=95847041;dbSNPBuildID=119;SSR=0;SAO=0;VP=0x05010000000100010e000200;WGT=1;VC=DIV;SLO;GNO;KGPilot123;KGPROD;OTHERKG;EFF=CODON_DELETION(MODERATE||ttgcgg/ttg|LR114L|384|ZNF2|protein_coding|CODING|ENST00000398107|4|1),CODON_DELETION(MODERATE||ttgcgg/ttg|LR118L|388|ZNF2|protein_coding|CODING|ENST00000295210|4|1),CODON_DELETION(MODERATE||ttgcgg/ttg|LR156L|426|ZNF2|protein_coding|CODING|ENST00000340539|5|1),CODON_DELETION(MODERATE||ttgcgg/ttg|LR169L|439|ZNF2|protein_coding|CODING|ENST00000453539|5|1),CODON_DELETION(MODERATE||ttgcgg/ttg|LR76L|346|ZNF2|protein_coding|CODING|ENST00000425369|3|1) 125,32, 2 173600783 rs111546206 C A . . RS=111546206;RSPOS=173600783;dbSNPBuildID=132;SSR=0;SAO=0;VP=0x050000080001000002000100;WGT=1;VC=SNV;INT;OTHERKG;EFF=INTRON(MODIFIER||||1010|RAPGEF4|protein_coding|CODING|ENST00000264111|1|1),INTRON(MODIFIER||||1011|RAPGEF4|protein_coding|CODING|ENST00000397081|1|1),INTRON(MODIFIER||||943|RAPGEF4|protein_coding|CODING|ENST00000409036|1|1),INTRON(MODIFIER|||||RAPGEF4-AS1|antisense|NON_CODING|ENST00000435328|1|1),INTRON(MODIFIER|||||RAPGEF4|processed_transcript|CODING|ENST00000484331|1|1),SPLICE_SITE_DONOR(HIGH||||1010|RAPGEF4|protein_coding|CODING|ENST00000264111|1|1),SPLICE_SITE_DONOR(HIGH||||1011|RAPGEF4|protein_coding|CODING|ENST00000397081|1|1),SPLICE_SITE_DONOR(HIGH||||943|RAPGEF4|protein_coding|CODING|ENST00000409036|1|1),UPSTREAM(MODIFIER||1686|||RAPGEF4-AS1|antisense|NON_CODING|ENST00000455435||1) rs111546206,0, 67,2, 2 180835589 rs4894140 A C,G . . RS=4894140;RSPOS=180835589;dbSNPBuildID=111;SSR=0;SAO=0;VP=0x05010008000104051f000100;WGT=1;VC=SNV;SLO;INT;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0.002296,.,0.9977];COMMON=1;EFF=INTRON(MODIFIER||||744|CWC22|protein_coding|CODING|ENST00000404136|9|1),INTRON(MODIFIER||||744|CWC22|protein_coding|CODING|ENST00000404136|9|2),INTRON(MODIFIER||||908|CWC22|protein_coding|CODING|ENST00000295749|9|1),INTRON(MODIFIER||||908|CWC22|protein_coding|CODING|ENST00000295749|9|2),INTRON(MODIFIER||||908|CWC22|protein_coding|CODING|ENST00000410053|9|1),INTRON(MODIFIER||||908|CWC22|protein_coding|CODING|ENST00000410053|9|2),SPLICE_SITE_ACCEPTOR(HIGH||||744|CWC22|protein_coding|CODING|ENST00000404136|10|1),SPLICE_SITE_ACCEPTOR(HIGH||||744|CWC22|protein_coding|CODING|ENST00000404136|10|2),SPLICE_SITE_ACCEPTOR(HIGH||||908|CWC22|protein_coding|CODING|ENST00000295749|10|1),SPLICE_SITE_ACCEPTOR(HIGH||||908|CWC22|protein_coding|CODING|ENST00000295749|10|2),SPLICE_SITE_ACCEPTOR(HIGH||||908|CWC22|protein_coding|CODING|ENST00000410053|10|1),SPLICE_SITE_ACCEPTOR(HIGH||||908|CWC22|protein_coding|CODING|ENST00000410053|10|2) 129, 2 219692790 rs5838710 A AG . . RS=5838710;RSPOS=219692790;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x05010008000100011e000200;WGT=1;VC=DIV;SLO;INT;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||2231||99|PRKAG3|protein_coding|CODING|ENST00000430489||1),INTRON(MODIFIER||||305|PRKAG3|protein_coding|CODING|ENST00000545803|6|1),INTRON(MODIFIER||||353|PRKAG3|protein_coding|CODING|ENST00000392098|5|1),INTRON(MODIFIER||||464|PRKAG3|protein_coding|CODING|ENST00000439262|5|1),INTRON(MODIFIER||||489|PRKAG3|protein_coding|CODING|ENST00000529249|5|1),INTRON(MODIFIER|||||PRKAG3|nonsense_mediated_decay|CODING|ENST00000233944|5|1),INTRON(MODIFIER|||||PRKAG3|nonsense_mediated_decay|CODING|ENST00000470307|5|1),INTRON(MODIFIER|||||PRKAG3|retained_intron|CODING|ENST00000490971|5|1),SPLICE_SITE_ACCEPTOR(HIGH||||305|PRKAG3|protein_coding|CODING|ENST00000545803|7|1),SPLICE_SITE_ACCEPTOR(HIGH||||353|PRKAG3|protein_coding|CODING|ENST00000392098|6|1),SPLICE_SITE_ACCEPTOR(HIGH||||464|PRKAG3|protein_coding|CODING|ENST00000439262|6|1),SPLICE_SITE_ACCEPTOR(HIGH||||489|PRKAG3|protein_coding|CODING|ENST00000529249|6|1),SPLICE_SITE_ACCEPTOR(HIGH|||||PRKAG3|nonsense_mediated_decay|CODING|ENST00000233944|6|1),SPLICE_SITE_ACCEPTOR(HIGH|||||PRKAG3|nonsense_mediated_decay|CODING|ENST00000470307|6|1),SPLICE_SITE_ACCEPTOR(HIGH|||||PRKAG3|retained_intron|CODING|ENST00000490971|6|1) 117,9, 2 220250147 rs17856013 A AA,AG . . RS=17856013;RSPOS=220250147;dbSNPBuildID=123;SSR=0;SAO=0;VP=0x050200001001000002000110;WGT=1;VC=SNV;S3D;NSF;OTHERKG;NOC;EFF=DOWNSTREAM(MODIFIER||1256|||DNPEP|nonsense_mediated_decay|CODING|ENST00000519698||1),DOWNSTREAM(MODIFIER||1256|||DNPEP|nonsense_mediated_decay|CODING|ENST00000519698||2),DOWNSTREAM(MODIFIER||1261||88|DNPEP|protein_coding|CODING|ENST00000519905||1),DOWNSTREAM(MODIFIER||1261||88|DNPEP|protein_coding|CODING|ENST00000519905||2),DOWNSTREAM(MODIFIER||233||136|DNPEP|protein_coding|CODING|ENST00000434339||1),DOWNSTREAM(MODIFIER||233||136|DNPEP|protein_coding|CODING|ENST00000434339||2),DOWNSTREAM(MODIFIER||556||116|DNPEP|protein_coding|CODING|ENST00000430206||1),DOWNSTREAM(MODIFIER||556||116|DNPEP|protein_coding|CODING|ENST00000430206||2),DOWNSTREAM(MODIFIER||5||269|DNPEP|protein_coding|CODING|ENST00000322176||1),DOWNSTREAM(MODIFIER||5||269|DNPEP|protein_coding|CODING|ENST00000322176||2),DOWNSTREAM(MODIFIER||612|||DNPEP|nonsense_mediated_decay|CODING|ENST00000520694||1),DOWNSTREAM(MODIFIER||612|||DNPEP|nonsense_mediated_decay|CODING|ENST00000520694||2),DOWNSTREAM(MODIFIER||778|||DNPEP|retained_intron|CODING|ENST00000523527||1),DOWNSTREAM(MODIFIER||778|||DNPEP|retained_intron|CODING|ENST00000523527||2),EXON(MODIFIER|||||DNPEP|retained_intron|CODING|ENST00000460963|8|1),EXON(MODIFIER|||||DNPEP|retained_intron|CODING|ENST00000460963|8|2),EXON(MODIFIER|||||DNPEP|retained_intron|CODING|ENST00000522421|2|1),EXON(MODIFIER|||||DNPEP|retained_intron|CODING|ENST00000522421|2|2),FRAME_SHIFT(HIGH||-/C|-183?|410|DNPEP|protein_coding|CODING|ENST00000373972|9|2),FRAME_SHIFT(HIGH||-/C|-244?|272|DNPEP|protein_coding|CODING|ENST00000429013|8|2|WARNING_TRANSCRIPT_INCOMPLETE),FRAME_SHIFT(HIGH||-/C|-258?|485|DNPEP|protein_coding|CODING|ENST00000273075|8|2),FRAME_SHIFT(HIGH||-/C|-266?|493|DNPEP|protein_coding|CODING|ENST00000523282|8|2),FRAME_SHIFT(HIGH||-/T|-183?|410|DNPEP|protein_coding|CODING|ENST00000373972|9|1),FRAME_SHIFT(HIGH||-/T|-244?|272|DNPEP|protein_coding|CODING|ENST00000429013|8|1|WARNING_TRANSCRIPT_INCOMPLETE),FRAME_SHIFT(HIGH||-/T|-258?|485|DNPEP|protein_coding|CODING|ENST00000273075|8|1),FRAME_SHIFT(HIGH||-/T|-266?|493|DNPEP|protein_coding|CODING|ENST00000523282|8|1),INTRON(MODIFIER||||223|DNPEP|protein_coding|CODING|ENST00000521459|6|1),INTRON(MODIFIER||||223|DNPEP|protein_coding|CODING|ENST00000521459|6|2),INTRON(MODIFIER||||330|DNPEP|protein_coding|CODING|ENST00000457935|7|1),INTRON(MODIFIER||||330|DNPEP|protein_coding|CODING|ENST00000457935|7|2),UPSTREAM(MODIFIER||3070|||AC053503.4|antisense|NON_CODING|ENST00000420563||1),UPSTREAM(MODIFIER||3070|||AC053503.4|antisense|NON_CODING|ENST00000420563||2),UPSTREAM(MODIFIER||3536|||DNPEP|processed_transcript|CODING|ENST00000490371||1),UPSTREAM(MODIFIER||3536|||DNPEP|processed_transcript|CODING|ENST00000490371||2),UPSTREAM(MODIFIER||3647|||DNPEP|retained_intron|CODING|ENST00000488051||1),UPSTREAM(MODIFIER||3647|||DNPEP|retained_intron|CODING|ENST00000488051||2),UPSTREAM(MODIFIER||3940|||DNPEP|retained_intron|CODING|ENST00000462779||1),UPSTREAM(MODIFIER||3940|||DNPEP|retained_intron|CODING|ENST00000462779||2),UPSTREAM(MODIFIER||853|||DNPEP|retained_intron|CODING|ENST00000488881||1),UPSTREAM(MODIFIER||853|||DNPEP|retained_intron|CODING|ENST00000488881||2),UTR_3_PRIME(MODIFIER|||||DNPEP|nonsense_mediated_decay|CODING|ENST00000373963|8|1),UTR_3_PRIME(MODIFIER|||||DNPEP|nonsense_mediated_decay|CODING|ENST00000373963|8|2),UTR_3_PRIME(MODIFIER|||||DNPEP|nonsense_mediated_decay|CODING|ENST00000373966|8|1),UTR_3_PRIME(MODIFIER|||||DNPEP|nonsense_mediated_decay|CODING|ENST00000373966|8|2) 163, 3 12942850 rs56387830 GC G . . RS=56387830;RSPOS=12942851;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010008000110011e000200;WGT=1;VC=DIV;SLO;INT;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0101,0.9899];COMMON=1;EFF=FRAME_SHIFT(HIGH||-/-|-993|1159|IQSEC1|protein_coding|CODING|ENST00000429247|14|1),INTRON(MODIFIER||||963|IQSEC1|protein_coding|CODING|ENST00000273221|13|1),UTR_3_PRIME(MODIFIER||||936|IQSEC1|protein_coding|CODING|ENST00000450726|13|1) 81,22, 3 50251833 rs201228948 A G . . RS=201228948;RSPOS=50251833;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050000000001000002000100;WGT=1;VC=SNV;OTHERKG;EFF=INTRON(MODIFIER|||||SLC38A3|processed_transcript|NON_CODING|ENST00000414604|2|1),INTRON(MODIFIER|||||SLC38A3|processed_transcript|NON_CODING|ENST00000420502|2|1),INTRON(MODIFIER|||||SLC38A3|processed_transcript|NON_CODING|ENST00000427428|3|1),INTRON(MODIFIER|||||SLC38A3|processed_transcript|NON_CODING|ENST00000445096|1|1),INTRON(MODIFIER|||||SLC38A3|processed_transcript|NON_CODING|ENST00000445325|2|1),INTRON(MODIFIER|||||SLC38A3|processed_transcript|NON_CODING|ENST00000541861|2|1),INTRON(MODIFIER|||||SLC38A3|retained_intron|NON_CODING|ENST00000456338|2|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SLC38A3|processed_transcript|NON_CODING|ENST00000414604|3|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SLC38A3|processed_transcript|NON_CODING|ENST00000420502|3|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SLC38A3|processed_transcript|NON_CODING|ENST00000427428|4|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SLC38A3|processed_transcript|NON_CODING|ENST00000445325|3|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SLC38A3|processed_transcript|NON_CODING|ENST00000541861|3|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SLC38A3|retained_intron|NON_CODING|ENST00000456338|3|1),UPSTREAM(MODIFIER||3335|||SLC38A3|retained_intron|NON_CODING|ENST00000417851||1),UPSTREAM(MODIFIER||3513|||SLC38A3|retained_intron|NON_CODING|ENST00000417121||1),UPSTREAM(MODIFIER||866|||SLC38A3|retained_intron|NON_CODING|ENST00000439524||1) rs201228948,0, 103,29, 3 50251833 rs5848902 A AG . . RS=5848902;RSPOS=50251833;RV;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0009183,0.9991];COMMON=0;EFF=INTRON(MODIFIER|||||SLC38A3|processed_transcript|NON_CODING|ENST00000414604|2|1),INTRON(MODIFIER|||||SLC38A3|processed_transcript|NON_CODING|ENST00000420502|2|1),INTRON(MODIFIER|||||SLC38A3|processed_transcript|NON_CODING|ENST00000427428|3|1),INTRON(MODIFIER|||||SLC38A3|processed_transcript|NON_CODING|ENST00000445096|1|1),INTRON(MODIFIER|||||SLC38A3|processed_transcript|NON_CODING|ENST00000445325|2|1),INTRON(MODIFIER|||||SLC38A3|processed_transcript|NON_CODING|ENST00000541861|2|1),INTRON(MODIFIER|||||SLC38A3|retained_intron|NON_CODING|ENST00000456338|2|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SLC38A3|processed_transcript|NON_CODING|ENST00000414604|3|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SLC38A3|processed_transcript|NON_CODING|ENST00000420502|3|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SLC38A3|processed_transcript|NON_CODING|ENST00000427428|4|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SLC38A3|processed_transcript|NON_CODING|ENST00000445325|3|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SLC38A3|processed_transcript|NON_CODING|ENST00000541861|3|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SLC38A3|retained_intron|NON_CODING|ENST00000456338|3|1),UPSTREAM(MODIFIER||3334|||SLC38A3|retained_intron|NON_CODING|ENST00000417851||1),UPSTREAM(MODIFIER||3512|||SLC38A3|retained_intron|NON_CODING|ENST00000417121||1),UPSTREAM(MODIFIER||865|||SLC38A3|retained_intron|NON_CODING|ENST00000439524||1) 103,29, 3 53324819 rs201612547 ATGGCAC A . . RS=201612547;RSPOS=53324826;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050000000001000002000200;WGT=1;VC=DIV;OTHERKG;CAF=[0.009183,0.9908];COMMON=1;EFF=CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||agtgccatc/atc|SAI444I|546|DCP1A|protein_coding|CODING|ENST00000606822|7|1),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||agtgccatc/atc|SAI482I|584|DCP1A|protein_coding|CODING|ENST00000607628|8|1),DOWNSTREAM(MODIFIER||1678|||RN7SL821P|misc_RNA|NON_CODING|ENST00000579907||1),DOWNSTREAM(MODIFIER||1843|||DCP1A|processed_transcript|CODING|ENST00000560624||1),DOWNSTREAM(MODIFIER||51|||Y_RNA|misc_RNA|NON_CODING|ENST00000384175||1),EXON(MODIFIER|||||DCP1A|processed_transcript|CODING|ENST00000480258|8|1),EXON(MODIFIER|||||DCP1A|processed_transcript|CODING|ENST00000494659|7|1),INTRON(MODIFIER||||582|DCP1A|protein_coding|CODING|ENST00000294241|8|1),SPLICE_SITE_DONOR(HIGH||||582|DCP1A|protein_coding|CODING|ENST00000294241|8|1),UPSTREAM(MODIFIER||2441|||DCP1A|retained_intron|CODING|ENST00000558034||1) 93,29, 3 53324819 rs66506434 ATGGCAC A . . RS=66506434;RSPOS=53324820;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.009183,0.9908];COMMON=1;EFF=CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||agtgccatc/atc|SAI444I|546|DCP1A|protein_coding|CODING|ENST00000606822|7|1),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||agtgccatc/atc|SAI482I|584|DCP1A|protein_coding|CODING|ENST00000607628|8|1),DOWNSTREAM(MODIFIER||1678|||RN7SL821P|misc_RNA|NON_CODING|ENST00000579907||1),DOWNSTREAM(MODIFIER||1843|||DCP1A|processed_transcript|CODING|ENST00000560624||1),DOWNSTREAM(MODIFIER||51|||Y_RNA|misc_RNA|NON_CODING|ENST00000384175||1),EXON(MODIFIER|||||DCP1A|processed_transcript|CODING|ENST00000480258|8|1),EXON(MODIFIER|||||DCP1A|processed_transcript|CODING|ENST00000494659|7|1),INTRON(MODIFIER||||582|DCP1A|protein_coding|CODING|ENST00000294241|8|1),SPLICE_SITE_DONOR(HIGH||||582|DCP1A|protein_coding|CODING|ENST00000294241|8|1),UPSTREAM(MODIFIER||2441|||DCP1A|retained_intron|CODING|ENST00000558034||1) 93,29, 3 129281980 rs2713625 C T,A . . RS=2713625;RSPOS=129281980;RV;dbSNPBuildID=100;SSR=0;SAO=0;VP=0x05030000000100051e000100;WGT=1;VC=SNV;S3D;SLO;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1,.];COMMON=0;EFF=EXON(MODIFIER|||||PLXND1|nonsense_mediated_decay|CODING|ENST00000512744|3|1),EXON(MODIFIER|||||PLXND1|nonsense_mediated_decay|CODING|ENST00000512744|3|2),EXON(MODIFIER|||||PLXND1|retained_intron|CODING|ENST00000503166|3|1),EXON(MODIFIER|||||PLXND1|retained_intron|CODING|ENST00000503166|3|2),EXON(MODIFIER|||||PLXND1|retained_intron|CODING|ENST00000504979|1|1),EXON(MODIFIER|||||PLXND1|retained_intron|CODING|ENST00000504979|1|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S1542N|1785|PLXND1|protein_coding|CODING|ENST00000393239|26|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aAt|S1542N|1925|PLXND1|protein_coding|CODING|ENST00000324093|26|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aTt|S1542I|1785|PLXND1|protein_coding|CODING|ENST00000393239|26|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aGt/aTt|S1542I|1925|PLXND1|protein_coding|CODING|ENST00000324093|26|2),UPSTREAM(MODIFIER||2081||229|PLXND1|protein_coding|CODING|ENST00000506979||1),UPSTREAM(MODIFIER||2081||229|PLXND1|protein_coding|CODING|ENST00000506979||2),UPSTREAM(MODIFIER||2195|||PLXND1|retained_intron|CODING|ENST00000508630||1),UPSTREAM(MODIFIER||2195|||PLXND1|retained_intron|CODING|ENST00000508630||2),UPSTREAM(MODIFIER||2723|||PLXND1|retained_intron|CODING|ENST00000512807||1),UPSTREAM(MODIFIER||2723|||PLXND1|retained_intron|CODING|ENST00000512807||2),UPSTREAM(MODIFIER||4440|||PLXND1|retained_intron|CODING|ENST00000504524||1),UPSTREAM(MODIFIER||4440|||PLXND1|retained_intron|CODING|ENST00000504524||2) 162, 4 86101 rs200616637 G C . . RS=200616637;RSPOS=86101;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050200000001000002000100;WGT=1;VC=SNV;S3D;OTHERKG;EFF=EXON(MODIFIER|||||ZNF595|processed_transcript|CODING|ENST00000339368|4|1),EXON(MODIFIER|||||ZNF595|processed_transcript|CODING|ENST00000507368|2|1),EXON(MODIFIER|||||ZNF595|processed_transcript|CODING|ENST00000512065|3|1),INTRON(MODIFIER|||||Z95704.2|pseudogene|NON_CODING|ENST00000380882|1|1),SPLICE_SITE_ACCEPTOR(HIGH|||||Z95704.2|pseudogene|NON_CODING|ENST00000380882|2|1),SPLICE_SITE_DONOR(HIGH|||||Z95704.2|pseudogene|NON_CODING|ENST00000380882|1|1) rs200616637,0, 118,27, 4 86101 rs58319295 G GC . . RS=58319295;RSPOS=86101;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.005051,0.9949];COMMON=1;EFF=EXON(MODIFIER|||||ZNF595|processed_transcript|CODING|ENST00000339368|4|1),EXON(MODIFIER|||||ZNF595|processed_transcript|CODING|ENST00000507368|2|1),EXON(MODIFIER|||||ZNF595|processed_transcript|CODING|ENST00000512065|3|1),INTRON(MODIFIER|||||Z95704.2|pseudogene|NON_CODING|ENST00000380882|1|1),SPLICE_SITE_ACCEPTOR(HIGH|||||Z95704.2|pseudogene|NON_CODING|ENST00000380882|2|1),SPLICE_SITE_DONOR(HIGH|||||Z95704.2|pseudogene|NON_CODING|ENST00000380882|1|1) 118,27, 4 110932389 rs11569144 G GC . . RS=11569144;RSPOS=110932393;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x050000001201040102000200;WGT=1;VC=DIV;NSF;REF;VLD;GNO;OTHERKG;CAF=[0.9371,0.0629];COMMON=1;EFF=EXON(MODIFIER|||||EGF|retained_intron|CODING|ENST00000509996|7|1),EXON(MODIFIER|||||EGF|retained_intron|CODING|ENST00000537316|3|1),EXON(MODIFIER|||||EGF|retained_intron|CODING|ENST00000540840|2|1),EXON(MODIFIER|||||EGF|retained_intron|CODING|ENST00000544918|2|1),FRAME_SHIFT(HIGH||-/C|-1093?|1165|EGF|protein_coding|CODING|ENST00000509793|23|1),FRAME_SHIFT(HIGH||-/C|-1094?|1166|EGF|protein_coding|CODING|ENST00000503392|23|1),FRAME_SHIFT(HIGH||-/C|-1135?|1207|EGF|protein_coding|CODING|ENST00000265171|24|1) 16,2, 4 110932389 rs79786166 G GC . . RS=79786166;RSPOS=110932389;dbSNPBuildID=131;SSR=0;SAO=0;VP=0x05000000120110001e000200;WGT=1;VC=DIV;NSF;REF;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.9371,0.0629];COMMON=1;EFF=EXON(MODIFIER|||||EGF|retained_intron|CODING|ENST00000509996|7|1),EXON(MODIFIER|||||EGF|retained_intron|CODING|ENST00000537316|3|1),EXON(MODIFIER|||||EGF|retained_intron|CODING|ENST00000540840|2|1),EXON(MODIFIER|||||EGF|retained_intron|CODING|ENST00000544918|2|1),FRAME_SHIFT(HIGH||-/C|-1093?|1165|EGF|protein_coding|CODING|ENST00000509793|23|1),FRAME_SHIFT(HIGH||-/C|-1094?|1166|EGF|protein_coding|CODING|ENST00000503392|23|1),FRAME_SHIFT(HIGH||-/C|-1135?|1207|EGF|protein_coding|CODING|ENST00000265171|24|1) 16,2, 4 177605081 rs5864401 CTCA C . . RS=5864401;RSPOS=177605082;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x05000000000100001e000200;WGT=1;VC=DIV;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.002296,0.9977];COMMON=1;EFF=CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||atgagc/agc|MS419S|420|VEGFC|protein_coding|CODING|ENST00000280193|7|1),INTRON(MODIFIER|||||RP11-313E19.2|antisense|NON_CODING|ENST00000504017|2|1),INTRON(MODIFIER|||||RP11-313E19.2|antisense|NON_CODING|ENST00000509194|1|1) 126,32, 5 77745853 rs66744502 C CA . . RS=66744502;RSPOS=77745853;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=EXON(MODIFIER|||||SCAMP1|processed_transcript|CODING|ENST00000339292|7|1),EXON(MODIFIER|||||SCAMP1|processed_transcript|CODING|ENST00000508822|6|1),EXON(MODIFIER|||||SCAMP1|processed_transcript|CODING|ENST00000509998|6|1),FRAME_SHIFT(HIGH||-/A|-244?|338|SCAMP1|protein_coding|CODING|ENST00000538629|7|1),INTRON(MODIFIER|||||SCAMP1|processed_transcript|CODING|ENST00000320280|3|1) 97,29, 5 132098242 rs30510 A G,C . . RS=30510;RSPOS=132098242;RV;dbSNPBuildID=76;SSR=0;SAO=0;VP=0x05030000080104051e000100;WGT=1;VC=SNV;S3D;SLO;NSM;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0004591,0.9995,.];COMMON=0;EFF=DOWNSTREAM(MODIFIER||1219||96|SEPT8|protein_coding|CODING|ENST00000414594||1),DOWNSTREAM(MODIFIER||1219||96|SEPT8|protein_coding|CODING|ENST00000414594||2),DOWNSTREAM(MODIFIER||1274||77|SEPT8|protein_coding|CODING|ENST00000371493||1),DOWNSTREAM(MODIFIER||1274||77|SEPT8|protein_coding|CODING|ENST00000371493||2),DOWNSTREAM(MODIFIER||1411|||SEPT8|retained_intron|CODING|ENST00000481794||1),DOWNSTREAM(MODIFIER||1411|||SEPT8|retained_intron|CODING|ENST00000481794||2),DOWNSTREAM(MODIFIER||1841|||SEPT8|processed_transcript|CODING|ENST00000492490||1),DOWNSTREAM(MODIFIER||1841|||SEPT8|processed_transcript|CODING|ENST00000492490||2),DOWNSTREAM(MODIFIER||53||129|SEPT8|protein_coding|CODING|ENST00000453480||1),DOWNSTREAM(MODIFIER||53||129|SEPT8|protein_coding|CODING|ENST00000453480||2),EXON(MODIFIER|||||SEPT8|processed_transcript|CODING|ENST00000371478|4|1),EXON(MODIFIER|||||SEPT8|processed_transcript|CODING|ENST00000371478|4|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N150K|369|SEPT8|protein_coding|CODING|ENST00000378699|6|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N150K|369|SEPT8|protein_coding|CODING|ENST00000448933|5|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N208K|440|SEPT8|protein_coding|CODING|ENST00000378701|5|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N208K|460|SEPT8|protein_coding|CODING|ENST00000378721|5|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N210K|429|SEPT8|protein_coding|CODING|ENST00000296873|5|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N210K|430|SEPT8|protein_coding|CODING|ENST00000378706|5|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N210K|442|SEPT8|protein_coding|CODING|ENST00000458488|5|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aaT/aaG|N210K|483|SEPT8|protein_coding|CODING|ENST00000378719|5|2),SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N150|369|SEPT8|protein_coding|CODING|ENST00000378699|6|1),SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N150|369|SEPT8|protein_coding|CODING|ENST00000448933|5|1),SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N208|440|SEPT8|protein_coding|CODING|ENST00000378701|5|1),SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N208|460|SEPT8|protein_coding|CODING|ENST00000378721|5|1),SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N210|429|SEPT8|protein_coding|CODING|ENST00000296873|5|1),SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N210|430|SEPT8|protein_coding|CODING|ENST00000378706|5|1),SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N210|442|SEPT8|protein_coding|CODING|ENST00000458488|5|1),SYNONYMOUS_CODING(LOW|SILENT|aaT/aaC|N210|483|SEPT8|protein_coding|CODING|ENST00000378719|5|1),UPSTREAM(MODIFIER||1679|||SEPT8|processed_transcript|CODING|ENST00000481030||1),UPSTREAM(MODIFIER||1679|||SEPT8|processed_transcript|CODING|ENST00000481030||2) 163, 5 135513085 rs55765823 T TC . . RS=55765823;RSPOS=135513085;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05030000120500011e000200;WGT=1;VC=DIV;S3D;SLO;NSF;REF;ASP;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||11|||SMAD5|processed_transcript|CODING|ENST00000514777||1),DOWNSTREAM(MODIFIER||4568||173|SMAD5|protein_coding|CODING|ENST00000507637||1),EXON(MODIFIER|||||SMAD5|processed_transcript|CODING|ENST00000514641|8|1),INTRON(MODIFIER||||464|SMAD5|protein_coding|CODING|ENST00000545279|8|1),INTRON(MODIFIER||||464|SMAD5|protein_coding|CODING|ENST00000545620|7|1),INTRON(MODIFIER|||||SMAD5|nonsense_mediated_decay|CODING|ENST00000513418|1|1),SPLICE_SITE_ACCEPTOR(HIGH||||464|SMAD5|protein_coding|CODING|ENST00000545279|9|1),SPLICE_SITE_ACCEPTOR(HIGH||||464|SMAD5|protein_coding|CODING|ENST00000545620|8|1),SPLICE_SITE_DONOR(HIGH||||464|SMAD5|protein_coding|CODING|ENST00000545279|8|1),SPLICE_SITE_DONOR(HIGH||||464|SMAD5|protein_coding|CODING|ENST00000545620|7|1) 151, 5 156721863 rs5872508 T TC . . RS=5872508;RSPOS=156721863;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x05010000000100010e000200;WGT=1;VC=DIV;SLO;GNO;KGPilot123;KGPROD;OTHERKG;EFF=EXON(MODIFIER|||||CYFIP2|nonsense_mediated_decay|CODING|ENST00000517753|3|1),EXON(MODIFIER|||||CYFIP2|nonsense_mediated_decay|CODING|ENST00000519002|4|1),EXON(MODIFIER|||||CYFIP2|nonsense_mediated_decay|CODING|ENST00000519153|4|1),EXON(MODIFIER|||||CYFIP2|nonsense_mediated_decay|CODING|ENST00000519252|4|1),EXON(MODIFIER|||||CYFIP2|nonsense_mediated_decay|CODING|ENST00000520419|4|1),EXON(MODIFIER|||||CYFIP2|nonsense_mediated_decay|CODING|ENST00000520759|4|1),EXON(MODIFIER|||||CYFIP2|nonsense_mediated_decay|CODING|ENST00000522423|4|1),EXON(MODIFIER|||||CYFIP2|nonsense_mediated_decay|CODING|ENST00000523119|4|1),EXON(MODIFIER|||||CYFIP2|nonsense_mediated_decay|CODING|ENST00000523969|4|1),FRAME_SHIFT(HIGH||-/C|-94?|1253|CYFIP2|protein_coding|CODING|ENST00000347377|4|1),FRAME_SHIFT(HIGH||-/C|-94?|1253|CYFIP2|protein_coding|CODING|ENST00000377576|4|1),FRAME_SHIFT(HIGH||-/C|-94?|1278|CYFIP2|protein_coding|CODING|ENST00000318218|4|1),INTRON(MODIFIER||||1057|CYFIP2|protein_coding|CODING|ENST00000522463|3|1),INTRON(MODIFIER||||1178|CYFIP2|protein_coding|CODING|ENST00000541131|1|1),INTRON(MODIFIER||||1227|CYFIP2|protein_coding|CODING|ENST00000521420|3|1),INTRON(MODIFIER|||||CYFIP2|nonsense_mediated_decay|CODING|ENST00000522637|3|1),UTR_3_PRIME(MODIFIER|||||CYFIP2|nonsense_mediated_decay|CODING|ENST00000517850|5|1),UTR_5_PRIME(MODIFIER||||216|CYFIP2|protein_coding|CODING|ENST00000442283|4|1) 103,29, 5 176885178 rs28538572 A C,G . . RS=28538572;RSPOS=176885178;dbSNPBuildID=125;SSR=0;SAO=0;VP=0x05010000080104051e000100;WGT=1;VC=SNV;SLO;NSM;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.003214,.,0.9968];COMMON=1;EFF=DOWNSTREAM(MODIFIER||120|||DBN1|retained_intron|CODING|ENST00000467054||1),DOWNSTREAM(MODIFIER||120|||DBN1|retained_intron|CODING|ENST00000467054||2),DOWNSTREAM(MODIFIER||1895||274|PRR7|protein_coding|CODING|ENST00000323249||1),DOWNSTREAM(MODIFIER||1895||274|PRR7|protein_coding|CODING|ENST00000323249||2),DOWNSTREAM(MODIFIER||1909||274|PRR7|protein_coding|CODING|ENST00000502922||1),DOWNSTREAM(MODIFIER||1909||274|PRR7|protein_coding|CODING|ENST00000502922||2),DOWNSTREAM(MODIFIER||1909||274|PRR7|protein_coding|CODING|ENST00000510492||1),DOWNSTREAM(MODIFIER||1909||274|PRR7|protein_coding|CODING|ENST00000510492||2),DOWNSTREAM(MODIFIER||2255||316|DBN1|protein_coding|CODING|ENST00000477391||1),DOWNSTREAM(MODIFIER||2255||316|DBN1|protein_coding|CODING|ENST00000477391||2),DOWNSTREAM(MODIFIER||2345||177|PRR7|protein_coding|CODING|ENST00000507881||1),DOWNSTREAM(MODIFIER||2345||177|PRR7|protein_coding|CODING|ENST00000507881||2),EXON(MODIFIER|||||DBN1|retained_intron|CODING|ENST00000472831|11|1),EXON(MODIFIER|||||DBN1|retained_intron|CODING|ENST00000472831|11|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S285P|381|DBN1|protein_coding|CODING|ENST00000393563|5|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S285P|391|DBN1|protein_coding|CODING|ENST00000512501|5|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S553P|649|DBN1|protein_coding|CODING|ENST00000309007|12|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S555P|651|DBN1|protein_coding|CODING|ENST00000292385|13|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S599P|695|DBN1|protein_coding|CODING|ENST00000393565|13|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S285A|381|DBN1|protein_coding|CODING|ENST00000393563|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S285A|391|DBN1|protein_coding|CODING|ENST00000512501|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S553A|649|DBN1|protein_coding|CODING|ENST00000309007|12|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S555A|651|DBN1|protein_coding|CODING|ENST00000292385|13|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Gcc|S599A|695|DBN1|protein_coding|CODING|ENST00000393565|13|1) 161,1, 6 29911271 rs3098019 G A,C,T . . RS=3098019;RSPOS=29911271;dbSNPBuildID=103;SSR=0;SAO=0;VP=0x050260080b01170516100104;GENEINFO=HLA-A:3105;WGT=1;VC=SNV;PM;S3D;NSM;REF;SYN;INT;VLD;G5A;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;NOV;CAF=[0.8081,.,0.1919,.];COMMON=1;EFF=EXON(MODIFIER|||||HLA-A|retained_intron|CODING|ENST00000461903|2|1),EXON(MODIFIER|||||HLA-A|retained_intron|CODING|ENST00000461903|2|2),EXON(MODIFIER|||||HLA-A|retained_intron|CODING|ENST00000461903|2|3),EXON(MODIFIER|||||HLA-A|retained_intron|CODING|ENST00000479320|2|1),EXON(MODIFIER|||||HLA-A|retained_intron|CODING|ENST00000479320|2|2),EXON(MODIFIER|||||HLA-A|retained_intron|CODING|ENST00000479320|2|3),EXON(MODIFIER|||||HLA-A|retained_intron|CODING|ENST00000495183|2|1),EXON(MODIFIER|||||HLA-A|retained_intron|CODING|ENST00000495183|2|2),EXON(MODIFIER|||||HLA-A|retained_intron|CODING|ENST00000495183|2|3),EXON(MODIFIER|||||HLA-A|retained_intron|CODING|ENST00000496081|3|1),EXON(MODIFIER|||||HLA-A|retained_intron|CODING|ENST00000496081|3|2),EXON(MODIFIER|||||HLA-A|retained_intron|CODING|ENST00000496081|3|3),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E190D|299|HLA-A|protein_coding|CODING|ENST00000376802|3|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E190D|365|HLA-A|protein_coding|CODING|ENST00000376809|3|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E190D|365|HLA-A|protein_coding|CODING|ENST00000396634|5|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaC|E190D|371|HLA-A|protein_coding|CODING|ENST00000376806|3|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaT|E190D|299|HLA-A|protein_coding|CODING|ENST00000376802|3|3),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaT|E190D|365|HLA-A|protein_coding|CODING|ENST00000376809|3|3),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaT|E190D|365|HLA-A|protein_coding|CODING|ENST00000396634|5|3),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaG/gaT|E190D|371|HLA-A|protein_coding|CODING|ENST00000376806|3|3),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E190|299|HLA-A|protein_coding|CODING|ENST00000376802|3|1),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E190|365|HLA-A|protein_coding|CODING|ENST00000376809|3|1),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E190|365|HLA-A|protein_coding|CODING|ENST00000396634|5|1),SYNONYMOUS_CODING(LOW|SILENT|gaG/gaA|E190|371|HLA-A|protein_coding|CODING|ENST00000376806|3|1),UPSTREAM(MODIFIER||427|||HCG4P5|unprocessed_pseudogene|NON_CODING|ENST00000429656||1),UPSTREAM(MODIFIER||427|||HCG4P5|unprocessed_pseudogene|NON_CODING|ENST00000429656||2),UPSTREAM(MODIFIER||427|||HCG4P5|unprocessed_pseudogene|NON_CODING|ENST00000429656||3) 21, 6 76570815 rs138200430 ATG A . . RS=138200430;RSPOS=76570816;dbSNPBuildID=134;SSR=0;SAO=0;VP=0x05000008000110001e000200;WGT=1;VC=DIV;INT;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.9481,0.05188];COMMON=1;EFF=DOWNSTREAM(MODIFIER||4140|||RNA5SP209|rRNA|NON_CODING|ENST00000411237||1),INTRON(MODIFIER||||1253|MYO6|protein_coding|CODING|ENST00000369975|14|1),INTRON(MODIFIER||||1262|MYO6|protein_coding|CODING|ENST00000369985|15|1),INTRON(MODIFIER||||1285|MYO6|protein_coding|CODING|ENST00000369977|15|1),INTRON(MODIFIER||||1286|MYO6|protein_coding|CODING|ENST00000369981|15|1),SPLICE_SITE_DONOR(HIGH||||1253|MYO6|protein_coding|CODING|ENST00000369975|14|1),SPLICE_SITE_DONOR(HIGH||||1262|MYO6|protein_coding|CODING|ENST00000369985|15|1),SPLICE_SITE_DONOR(HIGH||||1285|MYO6|protein_coding|CODING|ENST00000369977|15|1),SPLICE_SITE_DONOR(HIGH||||1286|MYO6|protein_coding|CODING|ENST00000369981|15|1),UPSTREAM(MODIFIER||4865|||snoU13|snoRNA|NON_CODING|ENST00000459013||1) 10,6, 7 4841470 rs414035 T C . . RS=414035;RSPOS=4841470;RV;dbSNPBuildID=80;SSR=0;SAO=0;VP=0x050100000a0100051e000100;WGT=1;VC=SNV;SLO;NSM;REF;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.003673,0.9963];COMMON=1;EFF=DOWNSTREAM(MODIFIER||3406|||RADIL|retained_intron|CODING|ENST00000469399||1),EXON(MODIFIER|||||RADIL|retained_intron|CODING|ENST00000472999|2|1),EXON(MODIFIER|||||RADIL|retained_intron|CODING|ENST00000473130|8|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S646G|835|RADIL|protein_coding|CODING|ENST00000538469|11|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agc/Ggc|S886G|1075|RADIL|protein_coding|CODING|ENST00000399583|12|1),UTR_3_PRIME(MODIFIER||||542|RADIL|protein_coding|CODING|ENST00000536091|11|1),UTR_3_PRIME(MODIFIER|||||RADIL|nonsense_mediated_decay|CODING|ENST00000445392|12|1) rs414035,0.005917, 151,2, 7 75914934 rs75544239 G GC . . RS=75544239;RSPOS=75914934;dbSNPBuildID=131;SSR=0;SAO=0;VP=0x05000000000100001e000200;WGT=1;VC=DIV;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0009183,0.9991];COMMON=1;EFF=DOWNSTREAM(MODIFIER||4131|||SRRM3|processed_transcript|CODING|ENST00000479284||1),FRAME_SHIFT(HIGH||-/C|-159?|233|SRRM3|protein_coding|CODING|ENST00000413003|4|1|WARNING_TRANSCRIPT_NO_START_CODON),FRAME_SHIFT(HIGH||-/C|-579?|597|SRRM3|protein_coding|CODING|ENST00000326382|15|1),FRAME_SHIFT(HIGH||-/C|-579?|653|SRRM3|protein_coding|CODING|ENST00000388802|16|1),UPSTREAM(MODIFIER||3173|||RN7SL212P|misc_RNA|NON_CODING|ENST00000583729||1) 100,27, 7 101200669 rs200075468 A G . . RS=200075468;RSPOS=101200669;RV;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050000000a01000402000100;WGT=1;VC=SNV;NSM;REF;HD;OTHERKG;EFF=EXON(MODIFIER|||||COL26A1|polymorphic_pseudogene|CODING|ENST00000397927|13|1),EXON(MODIFIER|||||COL26A1|polymorphic_pseudogene|CODING|ENST00000528707|13|1),EXON(MODIFIER|||||COL26A1|retained_intron|CODING|ENST00000473628|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E395G|440|COL26A1|protein_coding|CODING|ENST00000313669|13|1) rs200075468,0, 102,29, 7 101200669 rs36008849 A AG . . RS=36008849;RSPOS=101200669;dbSNPBuildID=126;SSR=0;SAO=0;VP=0x05010000120100011e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.001377,0.9986];COMMON=1;EFF=EXON(MODIFIER|||||COL26A1|polymorphic_pseudogene|CODING|ENST00000397927|13|1),EXON(MODIFIER|||||COL26A1|polymorphic_pseudogene|CODING|ENST00000528707|13|1),EXON(MODIFIER|||||COL26A1|retained_intron|CODING|ENST00000473628|3|1),FRAME_SHIFT(HIGH||-/G|-395?|440|COL26A1|protein_coding|CODING|ENST00000313669|13|1) 102,29, 7 142224003 rs201978710 C A,T . . RS=201978710;RSPOS=142224003;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050000000001000402000100;WGT=1;VC=SNV;HD;OTHERKG;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cAg|R55Q|114|TRBV11-1|TR_V_gene|CODING|ENST00000390367|2|2|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGg/cTg|R55L|114|TRBV11-1|TR_V_gene|CODING|ENST00000390367|2|1|WARNING_TRANSCRIPT_INCOMPLETE) 18, 7 149426305 rs11424737 G GC . . RS=11424737;RSPOS=149426305;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05010000120100011e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0004591,0.9995];COMMON=0;EFF=DOWNSTREAM(MODIFIER||3774|||KRBA1|retained_intron|CODING|ENST00000496080||1),EXON(MODIFIER|||||KRBA1|processed_transcript|CODING|ENST00000466546|13|1),EXON(MODIFIER|||||KRBA1|processed_transcript|CODING|ENST00000479560|13|1),INTRON(MODIFIER||||1029|KRBA1|protein_coding|CODING|ENST00000255992|13|1),INTRON(MODIFIER||||969|KRBA1|protein_coding|CODING|ENST00000319551|12|1),INTRON(MODIFIER||||969|KRBA1|protein_coding|CODING|ENST00000485033|11|1),INTRON(MODIFIER|||||KRBA1|nonsense_mediated_decay|CODING|ENST00000496259|10|1),SPLICE_SITE_ACCEPTOR(HIGH||||1029|KRBA1|protein_coding|CODING|ENST00000255992|14|1),SPLICE_SITE_DONOR(HIGH||||1029|KRBA1|protein_coding|CODING|ENST00000255992|13|1),UPSTREAM(MODIFIER||824|||KRBA1|retained_intron|CODING|ENST00000489951||1) 99,26, 7 150713902 rs76257575 G C . . RS=76257575;RSPOS=150713902;dbSNPBuildID=131;SSR=0;SAO=0;VP=0x050000000a01000002000100;WGT=1;VC=SNV;NSM;REF;OTHERKG;EFF=DOWNSTREAM(MODIFIER||2226||1203|NOS3|protein_coding|CODING|ENST00000297494||1),DOWNSTREAM(MODIFIER||2340||997|NOS3|protein_coding|CODING|ENST00000461406||1),DOWNSTREAM(MODIFIER||2525|||NOS3|processed_transcript|CODING|ENST00000477227||1),DOWNSTREAM(MODIFIER||3022|||ATG9B|processed_transcript|CODING|ENST00000473409||1),DOWNSTREAM(MODIFIER||3285|||NOS3|retained_intron|CODING|ENST00000475454||1),DOWNSTREAM(MODIFIER||3436|||NOS3|processed_transcript|CODING|ENST00000468293||1),DOWNSTREAM(MODIFIER||3473||340|ATG9B|protein_coding|CODING|ENST00000605952||1),DOWNSTREAM(MODIFIER||4103|||ATG9B|retained_intron|CODING|ENST00000473134||1),DOWNSTREAM(MODIFIER||4336|||ATG9B|processed_transcript|CODING|ENST00000466157||1),DOWNSTREAM(MODIFIER||4749||305|NOS3|protein_coding|CODING|ENST00000475017||1),EXON(MODIFIER|||||ATG9B|processed_transcript|CODING|ENST00000464855|5|1),EXON(MODIFIER|||||ATG9B|processed_transcript|CODING|ENST00000473698|6|1),EXON(MODIFIER|||||ATG9B|processed_transcript|CODING|ENST00000486407|10|1),EXON(MODIFIER|||||ATG9B|processed_transcript|CODING|ENST00000494791|10|1),INTRON(MODIFIER||||409|ATG9B|protein_coding|CODING|ENST00000444312|9|1),INTRON(MODIFIER||||923|ATG9B|protein_coding|CODING|ENST00000377974|10|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cct/Gct|P766A|781|ATG9B|protein_coding|CODING|ENST00000605938|10|1),SPLICE_SITE_ACCEPTOR(HIGH||||409|ATG9B|protein_coding|CODING|ENST00000444312|10|1),SPLICE_SITE_ACCEPTOR(HIGH||||923|ATG9B|protein_coding|CODING|ENST00000377974|11|1),SPLICE_SITE_DONOR(HIGH||||409|ATG9B|protein_coding|CODING|ENST00000444312|9|1),SPLICE_SITE_DONOR(HIGH||||923|ATG9B|protein_coding|CODING|ENST00000377974|10|1),UPSTREAM(MODIFIER||1225|||ATG9B|processed_transcript|CODING|ENST00000476282||1),UPSTREAM(MODIFIER||2510|||ATG9B|retained_intron|CODING|ENST00000404733||1),UPSTREAM(MODIFIER||4029|||ATG9B|processed_transcript|CODING|ENST00000498521||1),UPSTREAM(MODIFIER||579|||ATG9B|retained_intron|CODING|ENST00000469530||1),UPSTREAM(MODIFIER||818|||ATG9B|retained_intron|CODING|ENST00000471797||1) rs76257575,0, 126,31, 7 150713902 rs11393607 G GC . . RS=11393607;RSPOS=150713902;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05010000120100011e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||2227||1203|NOS3|protein_coding|CODING|ENST00000297494||1),DOWNSTREAM(MODIFIER||2341||997|NOS3|protein_coding|CODING|ENST00000461406||1),DOWNSTREAM(MODIFIER||2526|||NOS3|processed_transcript|CODING|ENST00000477227||1),DOWNSTREAM(MODIFIER||3021|||ATG9B|processed_transcript|CODING|ENST00000473409||1),DOWNSTREAM(MODIFIER||3286|||NOS3|retained_intron|CODING|ENST00000475454||1),DOWNSTREAM(MODIFIER||3437|||NOS3|processed_transcript|CODING|ENST00000468293||1),DOWNSTREAM(MODIFIER||3472||340|ATG9B|protein_coding|CODING|ENST00000605952||1),DOWNSTREAM(MODIFIER||4102|||ATG9B|retained_intron|CODING|ENST00000473134||1),DOWNSTREAM(MODIFIER||4335|||ATG9B|processed_transcript|CODING|ENST00000466157||1),DOWNSTREAM(MODIFIER||4750||305|NOS3|protein_coding|CODING|ENST00000475017||1),EXON(MODIFIER|||||ATG9B|processed_transcript|CODING|ENST00000464855|5|1),EXON(MODIFIER|||||ATG9B|processed_transcript|CODING|ENST00000473698|6|1),EXON(MODIFIER|||||ATG9B|processed_transcript|CODING|ENST00000486407|10|1),EXON(MODIFIER|||||ATG9B|processed_transcript|CODING|ENST00000494791|10|1),FRAME_SHIFT(HIGH||-/G|-251?|409|ATG9B|protein_coding|CODING|ENST00000444312|9|1),FRAME_SHIFT(HIGH||-/G|-765?|781|ATG9B|protein_coding|CODING|ENST00000605938|10|1),FRAME_SHIFT(HIGH||-/G|-765?|923|ATG9B|protein_coding|CODING|ENST00000377974|10|1),UPSTREAM(MODIFIER||1226|||ATG9B|processed_transcript|CODING|ENST00000476282||1),UPSTREAM(MODIFIER||2511|||ATG9B|retained_intron|CODING|ENST00000404733||1),UPSTREAM(MODIFIER||4030|||ATG9B|processed_transcript|CODING|ENST00000498521||1),UPSTREAM(MODIFIER||580|||ATG9B|retained_intron|CODING|ENST00000469530||1),UPSTREAM(MODIFIER||819|||ATG9B|retained_intron|CODING|ENST00000471797||1) 126,31, 7 150713902 rs77573754 G GC . . RS=77573754;RSPOS=150713903;dbSNPBuildID=131;SSR=0;SAO=0;VP=0x050000001201000002000200;WGT=1;VC=DIV;NSF;REF;OTHERKG;CAF=[0,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||2227||1203|NOS3|protein_coding|CODING|ENST00000297494||1),DOWNSTREAM(MODIFIER||2341||997|NOS3|protein_coding|CODING|ENST00000461406||1),DOWNSTREAM(MODIFIER||2526|||NOS3|processed_transcript|CODING|ENST00000477227||1),DOWNSTREAM(MODIFIER||3021|||ATG9B|processed_transcript|CODING|ENST00000473409||1),DOWNSTREAM(MODIFIER||3286|||NOS3|retained_intron|CODING|ENST00000475454||1),DOWNSTREAM(MODIFIER||3437|||NOS3|processed_transcript|CODING|ENST00000468293||1),DOWNSTREAM(MODIFIER||3472||340|ATG9B|protein_coding|CODING|ENST00000605952||1),DOWNSTREAM(MODIFIER||4102|||ATG9B|retained_intron|CODING|ENST00000473134||1),DOWNSTREAM(MODIFIER||4335|||ATG9B|processed_transcript|CODING|ENST00000466157||1),DOWNSTREAM(MODIFIER||4750||305|NOS3|protein_coding|CODING|ENST00000475017||1),EXON(MODIFIER|||||ATG9B|processed_transcript|CODING|ENST00000464855|5|1),EXON(MODIFIER|||||ATG9B|processed_transcript|CODING|ENST00000473698|6|1),EXON(MODIFIER|||||ATG9B|processed_transcript|CODING|ENST00000486407|10|1),EXON(MODIFIER|||||ATG9B|processed_transcript|CODING|ENST00000494791|10|1),FRAME_SHIFT(HIGH||-/G|-251?|409|ATG9B|protein_coding|CODING|ENST00000444312|9|1),FRAME_SHIFT(HIGH||-/G|-765?|781|ATG9B|protein_coding|CODING|ENST00000605938|10|1),FRAME_SHIFT(HIGH||-/G|-765?|923|ATG9B|protein_coding|CODING|ENST00000377974|10|1),UPSTREAM(MODIFIER||1226|||ATG9B|processed_transcript|CODING|ENST00000476282||1),UPSTREAM(MODIFIER||2511|||ATG9B|retained_intron|CODING|ENST00000404733||1),UPSTREAM(MODIFIER||4030|||ATG9B|processed_transcript|CODING|ENST00000498521||1),UPSTREAM(MODIFIER||580|||ATG9B|retained_intron|CODING|ENST00000469530||1),UPSTREAM(MODIFIER||819|||ATG9B|retained_intron|CODING|ENST00000471797||1) 126,31, 8 22079355 rs4872422 A C,G . . RS=4872422;RSPOS=22079355;dbSNPBuildID=111;SSR=0;SAO=0;VP=0x05010000080104051f000100;WGT=1;VC=SNV;SLO;NSM;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0.001837,.,0.9982];COMMON=1;EFF=DOWNSTREAM(MODIFIER||1891|||PHYHIP|retained_intron|CODING|ENST00000522869||1),DOWNSTREAM(MODIFIER||1891|||PHYHIP|retained_intron|CODING|ENST00000522869||2),DOWNSTREAM(MODIFIER||2450|||PHYHIP|retained_intron|CODING|ENST00000518274||1),DOWNSTREAM(MODIFIER||2450|||PHYHIP|retained_intron|CODING|ENST00000518274||2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agT/agG|S120R|247|PHYHIP|protein_coding|CODING|ENST00000523252|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agT/agG|S168R|330|PHYHIP|protein_coding|CODING|ENST00000321613|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|agT/agG|S168R|330|PHYHIP|protein_coding|CODING|ENST00000454243|5|1),SYNONYMOUS_CODING(LOW|SILENT|agT/agC|S120|247|PHYHIP|protein_coding|CODING|ENST00000523252|4|2),SYNONYMOUS_CODING(LOW|SILENT|agT/agC|S168|330|PHYHIP|protein_coding|CODING|ENST00000321613|6|2),SYNONYMOUS_CODING(LOW|SILENT|agT/agC|S168|330|PHYHIP|protein_coding|CODING|ENST00000454243|5|2) 141, 8 38827185 rs5891050 GC G . . RS=5891050;RSPOS=38827186;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x05010000120100011e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.008264,0.9917];COMMON=1;EFF=DOWNSTREAM(MODIFIER||693|||CTD-2544N14.3|antisense|NON_CODING|ENST00000520863||1),EXON(MODIFIER|||||PLEKHA2|processed_transcript|CODING|ENST00000388745|12|1),EXON(MODIFIER|||||PLEKHA2|processed_transcript|CODING|ENST00000518571|11|1),EXON(MODIFIER|||||PLEKHA2|processed_transcript|CODING|ENST00000521784|10|1),FRAME_SHIFT(HIGH||-/-|-388|425|PLEKHA2|protein_coding|CODING|ENST00000420274|12|1),INTRON(MODIFIER||||249|PLEKHA2|protein_coding|CODING|ENST00000521746|8|1),INTRON(MODIFIER|||||PLEKHA2|processed_transcript|CODING|ENST00000518939|1|1),UPSTREAM(MODIFIER||1949|||PLEKHA2|processed_transcript|CODING|ENST00000521123||1),UPSTREAM(MODIFIER||4497||476|HTRA4|protein_coding|CODING|ENST00000302495||1) 102,29, 8 48805816 rs370106149 A G . . RS=370106149;RSPOS=48805816;dbSNPBuildID=138;SSR=0;SAO=0;VP=0x050000000a01000002000100;WGT=1;VC=SNV;NSM;REF;OTHERKG;EFF=DOWNSTREAM(MODIFIER||3125|||AC103686.1|miRNA|NON_CODING|ENST00000390136||1),EXON(MODIFIER|||||PRKDC|processed_transcript|CODING|ENST00000518216|31|1),EXON(MODIFIER|||||PRKDC|processed_transcript|CODING|ENST00000523565|31|1),INTRON(MODIFIER||||4096|PRKDC|protein_coding|CODING|ENST00000338368|31|1),INTRON(MODIFIER||||4127|PRKDC|protein_coding|CODING|ENST00000314191|31|1),SPLICE_SITE_ACCEPTOR(HIGH||||4096|PRKDC|protein_coding|CODING|ENST00000338368|32|1),SPLICE_SITE_ACCEPTOR(HIGH||||4127|PRKDC|protein_coding|CODING|ENST00000314191|32|1),SPLICE_SITE_DONOR(HIGH||||4096|PRKDC|protein_coding|CODING|ENST00000338368|31|1),SPLICE_SITE_DONOR(HIGH||||4127|PRKDC|protein_coding|CODING|ENST00000314191|31|1) 98,29, 8 48805816 rs11411516 A AG . . RS=11411516;RSPOS=48805816;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05010000120100011e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||3126|||AC103686.1|miRNA|NON_CODING|ENST00000390136||1),EXON(MODIFIER|||||PRKDC|processed_transcript|CODING|ENST00000518216|31|1),EXON(MODIFIER|||||PRKDC|processed_transcript|CODING|ENST00000523565|31|1),FRAME_SHIFT(HIGH||-/C|-1243?|4096|PRKDC|protein_coding|CODING|ENST00000338368|31|1),FRAME_SHIFT(HIGH||-/C|-1243?|4127|PRKDC|protein_coding|CODING|ENST00000314191|31|1) 98,29, 8 63978658 rs5891887 TA T . . RS=5891887;RSPOS=63978659;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x05010008000104010e000200;WGT=1;VC=DIV;SLO;INT;VLD;GNO;KGPilot123;KGPROD;OTHERKG;EFF=INTRON(MODIFIER||||278|TTPA|protein_coding|CODING|ENST00000260116|2|1),INTRON(MODIFIER|||||TTPA|processed_transcript|CODING|ENST00000521138|1|1),SPLICE_SITE_ACCEPTOR(HIGH||||278|TTPA|protein_coding|CODING|ENST00000260116|3|1) 111,4,32, 8 64098729 rs58419856 A AG . . RS=58419856;RSPOS=64098729;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010008120500011e000200;WGT=1;VC=DIV;SLO;NSF;REF;INT;ASP;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.004132,0.9959];COMMON=1;EFF=EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000517303|5|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000517375|5|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000518438|3|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000518763|5|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000520640|4|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000521547|4|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000521674|4|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000523056|5|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000523455|4|1),INTRON(MODIFIER||||52|YTHDF3|protein_coding|CODING|ENST00000517371|3|1),INTRON(MODIFIER||||584|YTHDF3|protein_coding|CODING|ENST00000539294|3|1),SPLICE_SITE_ACCEPTOR(HIGH||||584|YTHDF3|protein_coding|CODING|ENST00000539294|4|1),UPSTREAM(MODIFIER||1358||99|YTHDF3|protein_coding|CODING|ENST00000518373||1),UTR_3_PRIME(MODIFIER|||||YTHDF3|nonsense_mediated_decay|CODING|ENST00000524135|5|1),UTR_5_PRIME(MODIFIER||||395|YTHDF3|protein_coding|CODING|ENST00000542911|5|1) 126, 8 64098729 rs72538982 A AG . . RS=72538982;RSPOS=64098729;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x05000008120100000e000200;WGT=1;VC=DIV;NSF;REF;INT;KGPilot123;KGPROD;OTHERKG;CAF=[0.004132,0.9959];COMMON=1;EFF=EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000517303|5|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000517375|5|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000518438|3|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000518763|5|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000520640|4|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000521547|4|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000521674|4|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000523056|5|1),EXON(MODIFIER|||||YTHDF3|processed_transcript|CODING|ENST00000523455|4|1),INTRON(MODIFIER||||52|YTHDF3|protein_coding|CODING|ENST00000517371|3|1),INTRON(MODIFIER||||584|YTHDF3|protein_coding|CODING|ENST00000539294|3|1),SPLICE_SITE_ACCEPTOR(HIGH||||584|YTHDF3|protein_coding|CODING|ENST00000539294|4|1),UPSTREAM(MODIFIER||1358||99|YTHDF3|protein_coding|CODING|ENST00000518373||1),UTR_3_PRIME(MODIFIER|||||YTHDF3|nonsense_mediated_decay|CODING|ENST00000524135|5|1),UTR_5_PRIME(MODIFIER||||395|YTHDF3|protein_coding|CODING|ENST00000542911|5|1) 126, 8 86126827 rs112611553 C CAACATT . . RS=112611553;RSPOS=86126827;dbSNPBuildID=132;SSR=0;SAO=0;VP=0x05010000000100010e000200;WGT=1;VC=DIV;SLO;GNO;KGPilot123;KGPROD;OTHERKG;EFF=CODON_CHANGE_PLUS_CODON_INSERTION(MODERATE||gtt/gtAATGTTt|V49VMF|59|C8orf59|protein_coding|CODING|ENST00000431163|3|1),CODON_CHANGE_PLUS_CODON_INSERTION(MODERATE||gtt/gtAATGTTt|V49VMF|59|C8orf59|protein_coding|CODING|ENST00000518562|4|1),CODON_CHANGE_PLUS_CODON_INSERTION(MODERATE||gtt/gtAATGTTt|V88VMF|98|C8orf59|protein_coding|CODING|ENST00000417663|4|1),CODON_CHANGE_PLUS_CODON_INSERTION(MODERATE||gtt/gtAATGTTt|V88VMF|98|C8orf59|protein_coding|CODING|ENST00000421308|5|1),CODON_CHANGE_PLUS_CODON_INSERTION(MODERATE||gtt/gtAATGTTt|V88VMF|98|C8orf59|protein_coding|CODING|ENST00000458398|5|1),CODON_CHANGE_PLUS_CODON_INSERTION(MODERATE||gtt/gtAATGTTt|V88VMF|98|C8orf59|protein_coding|CODING|ENST00000518091|3|1),CODON_CHANGE_PLUS_CODON_INSERTION(MODERATE||gtt/gtAATGTTt|V88VMF|98|C8orf59|protein_coding|CODING|ENST00000524353|5|1),DOWNSTREAM(MODIFIER||103||173|E2F5|protein_coding|CODING|ENST00000521429||1),DOWNSTREAM(MODIFIER||2214|||C8orf59|retained_intron|CODING|ENST00000523245||1),DOWNSTREAM(MODIFIER||2561||43|C8orf59|protein_coding|CODING|ENST00000321777||1),DOWNSTREAM(MODIFIER||2676||43|C8orf59|protein_coding|CODING|ENST00000545322||1),DOWNSTREAM(MODIFIER||4027|||C8orf59|retained_intron|CODING|ENST00000518786||1),DOWNSTREAM(MODIFIER||4072|||C8orf59|retained_intron|CODING|ENST00000521286||1),DOWNSTREAM(MODIFIER||416||44|C8orf59|protein_coding|CODING|ENST00000523281||1),DOWNSTREAM(MODIFIER||556||185|E2F5|protein_coding|CODING|ENST00000517476||1),DOWNSTREAM(MODIFIER||75||129|E2F5|protein_coding|CODING|ENST00000520225||1),DOWNSTREAM(MODIFIER||75||345|E2F5|protein_coding|CODING|ENST00000418930||1),DOWNSTREAM(MODIFIER||77||347|E2F5|protein_coding|CODING|ENST00000256117||1),DOWNSTREAM(MODIFIER||78||346|E2F5|protein_coding|CODING|ENST00000416274||1),EXON(MODIFIER|||||C8orf59|retained_intron|CODING|ENST00000520236|2|1),EXON(MODIFIER|||||E2F5|processed_transcript|CODING|ENST00000519128|7|1),INTRON(MODIFIER||||182|E2F5|protein_coding|CODING|ENST00000518234|5|1) 92,29,4, 8 120220775 rs71302978 CG C . . RS=71302978;RSPOS=120220776;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x05010000120100011e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.005969,0.994];COMMON=1;EFF=EXON(MODIFIER|||||MAL2|processed_transcript|CODING|ENST00000521748|1|1),FRAME_SHIFT(HIGH||-/-|-22|176|MAL2|protein_coding|CODING|ENST00000276681|1|1),INTRON(MODIFIER|||||MAL2|processed_transcript|CODING|ENST00000522112|2|1),INTRON(MODIFIER|||||MAL2|processed_transcript|CODING|ENST00000534619|1|1),UPSTREAM(MODIFIER||332|||MAL2|processed_transcript|CODING|ENST00000531508||1) 69,2, 8 144811338 rs9969600 C A,G . . RS=9969600;RSPOS=144811338;dbSNPBuildID=119;SSR=0;SAO=0;VP=0x05010000010100051e000100;WGT=1;VC=SNV;SLO;SYN;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0004591,.,0.9995];COMMON=0;EFF=DOWNSTREAM(MODIFIER||3915|||MIR4664|miRNA|NON_CODING|ENST00000583819||1),DOWNSTREAM(MODIFIER||3915|||MIR4664|miRNA|NON_CODING|ENST00000583819||2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caC|Q201H|1179|FAM83H|protein_coding|CODING|ENST00000388913|3|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|caG/caT|Q201H|1179|FAM83H|protein_coding|CODING|ENST00000388913|3|1),UPSTREAM(MODIFIER||4972|||FAM83H-AS1|lincRNA|NON_CODING|ENST00000533004||1),UPSTREAM(MODIFIER||4972|||FAM83H-AS1|lincRNA|NON_CODING|ENST00000533004||2),UPSTREAM(MODIFIER||528|||FAM83H|nonsense_mediated_decay|CODING|ENST00000395103||1),UPSTREAM(MODIFIER||528|||FAM83H|nonsense_mediated_decay|CODING|ENST00000395103||2) 162, 8 145106938 rs60949781 GCC G . . RS=60949781;RSPOS=145106939;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.01148,0.9885];COMMON=1;EFF=DOWNSTREAM(MODIFIER||1177|||OPLAH|retained_intron|CODING|ENST00000531027||1),DOWNSTREAM(MODIFIER||516|||CTD-3065J16.6|antisense|NON_CODING|ENST00000528912||1),DOWNSTREAM(MODIFIER||734|||OPLAH|retained_intron|CODING|ENST00000527993||1),DOWNSTREAM(MODIFIER||972|||CTD-3065J16.6|antisense|NON_CODING|ENST00000561181||1),EXON(MODIFIER|||||OPLAH|processed_transcript|CODING|ENST00000534424|25|1),FRAME_SHIFT(HIGH||-/-|-1167|1288|OPLAH|protein_coding|CODING|ENST00000426825|26|1) 87,26,1, 8 146033347 rs2976653 T C . . RS=2976653;RSPOS=146033347;RV;dbSNPBuildID=101;SSR=0;SAO=0;VP=0x050100080a0100011e000100;WGT=1;VC=SNV;SLO;NSM;REF;INT;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.002296,0.9977];COMMON=1;EFF=DOWNSTREAM(MODIFIER||635||129|ZNF517|protein_coding|CODING|ENST00000528012||1),EXON(MODIFIER|||||ZNF517|nonsense_mediated_decay|CODING|ENST00000533965|5|1),EXON(MODIFIER|||||ZNF517|retained_intron|CODING|ENST00000530879|3|1),INTRON(MODIFIER||||142|ZNF517|protein_coding|CODING|ENST00000525105|3|1),INTRON(MODIFIER|||||ZNF517|processed_transcript|CODING|ENST00000526178|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V315A|458|ZNF517|protein_coding|CODING|ENST00000529429|3|1|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V349A|492|ZNF517|protein_coding|CODING|ENST00000359971|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gTg/gCg|V349A|492|ZNF517|protein_coding|CODING|ENST00000531720|4|1) rs2976653,0.005917, 151, 9 33385690 rs139024279 G C,T . . RS=139024279;RSPOS=33385690;dbSNPBuildID=134;SSR=0;SAO=0;VP=0x050200000a01050002000100;WGT=1;VC=SNV;S3D;NSM;REF;VLD;G5;OTHERKG;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R102S|141|AQP7|protein_coding|CODING|ENST00000447660|3|2|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R142S|165|AQP7|protein_coding|CODING|ENST00000537089|6|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R142S|168|AQP7|protein_coding|CODING|ENST00000439678|4|2|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R170S|193|AQP7|protein_coding|CODING|ENST00000379503|4|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R177S|216|AQP7|protein_coding|CODING|ENST00000377425|6|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R233S|256|AQP7|protein_coding|CODING|ENST00000379506|5|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R233S|341|AQP7|protein_coding|CODING|ENST00000379507|5|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R234S|257|AQP7|protein_coding|CODING|ENST00000539936|7|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Agc|R234S|342|AQP7|protein_coding|CODING|ENST00000297988|7|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Ggc|R102G|141|AQP7|protein_coding|CODING|ENST00000447660|3|1|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Ggc|R142G|165|AQP7|protein_coding|CODING|ENST00000537089|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Ggc|R142G|168|AQP7|protein_coding|CODING|ENST00000439678|4|1|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Ggc|R170G|193|AQP7|protein_coding|CODING|ENST00000379503|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Ggc|R177G|216|AQP7|protein_coding|CODING|ENST00000377425|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Ggc|R233G|256|AQP7|protein_coding|CODING|ENST00000379506|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Ggc|R233G|341|AQP7|protein_coding|CODING|ENST00000379507|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Ggc|R234G|257|AQP7|protein_coding|CODING|ENST00000539936|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Ggc|R234G|342|AQP7|protein_coding|CODING|ENST00000297988|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cAg|P102Q|141|AQP7|protein_coding|CODING|ENST00000541274|5|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P102R|141|AQP7|protein_coding|CODING|ENST00000541274|5|1) 21, 10 13166076 rs523747 A C,G . . RS=523747;RSPOS=13166076;dbSNPBuildID=83;SSR=0;SAO=0;VP=0x05030000080105051f000101;WGT=1;VC=SNV;S3D;SLO;NSM;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0.008724,.,0.9913];COMMON=1;EFF=DOWNSTREAM(MODIFIER||878||125|OPTN|protein_coding|CODING|ENST00000424614||1),DOWNSTREAM(MODIFIER||878||125|OPTN|protein_coding|CODING|ENST00000424614||2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Caa|K316Q|571|OPTN|protein_coding|CODING|ENST00000378752|10|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Caa|K316Q|571|OPTN|protein_coding|CODING|ENST00000378764|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Caa|K322Q|577|OPTN|protein_coding|CODING|ENST00000263036|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Caa|K322Q|577|OPTN|protein_coding|CODING|ENST00000378747|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Caa|K322Q|577|OPTN|protein_coding|CODING|ENST00000378748|10|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Caa|K322Q|577|OPTN|protein_coding|CODING|ENST00000378757|8|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K316E|571|OPTN|protein_coding|CODING|ENST00000378752|10|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K316E|571|OPTN|protein_coding|CODING|ENST00000378764|9|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K322E|577|OPTN|protein_coding|CODING|ENST00000263036|9|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K322E|577|OPTN|protein_coding|CODING|ENST00000378747|9|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K322E|577|OPTN|protein_coding|CODING|ENST00000378748|10|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Aaa/Gaa|K322E|577|OPTN|protein_coding|CODING|ENST00000378757|8|2) 161, 10 27687534 rs144226969 C CT . . RS=144226969;RSPOS=27687534;dbSNPBuildID=134;SSR=0;SAO=0;VP=0x05000000120110001e000200;WGT=1;VC=DIV;NSF;REF;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.9141,0.08586];COMMON=1;EFF=FRAME_SHIFT(HIGH||-/A|-664?|767|PTCHD3|protein_coding|CODING|ENST00000438700|4|1) 10,7, 10 27687534 rs33998137 C CT . . RS=33998137;RSPOS=27687540;dbSNPBuildID=126;SSR=0;SAO=0;VP=0x050000001201000002000200;WGT=1;VC=DIV;NSF;REF;OTHERKG;CAF=[0.9141,0.08586];COMMON=1;EFF=FRAME_SHIFT(HIGH||-/A|-664?|767|PTCHD3|protein_coding|CODING|ENST00000438700|4|1) 10,7, 10 27687534 rs376587147 CTT C,CT . . RS=376587147;RSPOS=27687535;dbSNPBuildID=138;SSR=0;SAO=0;VP=0x050000001001000002000210;WGT=1;VC=DIV;NSF;OTHERKG;NOC;EFF=FRAME_SHIFT(HIGH||-/-|-664|767|PTCHD3|protein_coding|CODING|ENST00000438700|4|1),FRAME_SHIFT(HIGH||-/-|-664|767|PTCHD3|protein_coding|CODING|ENST00000438700|4|2) 10,7, 10 27822656 rs142609338 T TA . . RS=142609338;RSPOS=27822656;dbSNPBuildID=134;SSR=0;SAO=0;VP=0x05000008000110001e000200;WGT=1;VC=DIV;INT;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.9027,0.09734];COMMON=1;EFF=INTRON(MODIFIER||||142|RAB18|protein_coding|CODING|ENST00000535776|3|1),INTRON(MODIFIER||||161|RAB18|protein_coding|CODING|ENST00000375802|2|1),INTRON(MODIFIER||||206|RAB18|protein_coding|CODING|ENST00000356940|4|1),INTRON(MODIFIER||||289|RAB18|protein_coding|CODING|ENST00000423465|6|1),INTRON(MODIFIER|||||RAB18|processed_transcript|CODING|ENST00000465772|4|1),SPLICE_SITE_ACCEPTOR(HIGH||||161|RAB18|protein_coding|CODING|ENST00000375802|3|1),SPLICE_SITE_ACCEPTOR(HIGH||||206|RAB18|protein_coding|CODING|ENST00000356940|5|1),SPLICE_SITE_ACCEPTOR(HIGH||||289|RAB18|protein_coding|CODING|ENST00000423465|7|1),SPLICE_SITE_ACCEPTOR(HIGH|||||RAB18|processed_transcript|CODING|ENST00000465772|5|1) 13,8, 10 97920099 rs67530050 T TC . . RS=67530050;RSPOS=97920099;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.002296,0.9977];COMMON=1;EFF=DOWNSTREAM(MODIFIER||3006|||ZNF518A|processed_transcript|NON_CODING|ENST00000478086||1),DOWNSTREAM(MODIFIER||4324|||ZNF518A|processed_transcript|NON_CODING|ENST00000488700||1),EXON(MODIFIER|||||ZNF518A|processed_transcript|NON_CODING|ENST00000567632|6|1),EXON(MODIFIER|||||ZNF518A|retained_intron|NON_CODING|ENST00000371192|2|1),INTRON(MODIFIER|||||ZNF518A|processed_transcript|NON_CODING|ENST00000316045|7|1),INTRON(MODIFIER|||||ZNF518A|processed_transcript|NON_CODING|ENST00000442635|1|1),INTRON(MODIFIER|||||ZNF518A|processed_transcript|NON_CODING|ENST00000534948|6|1),INTRON(MODIFIER|||||ZNF518A|processed_transcript|NON_CODING|ENST00000563195|3|1),SPLICE_SITE_ACCEPTOR(HIGH|||||ZNF518A|processed_transcript|NON_CODING|ENST00000316045|8|1),SPLICE_SITE_ACCEPTOR(HIGH|||||ZNF518A|processed_transcript|NON_CODING|ENST00000534948|7|1),SPLICE_SITE_DONOR(HIGH|||||ZNF518A|processed_transcript|NON_CODING|ENST00000316045|7|1),SPLICE_SITE_DONOR(HIGH|||||ZNF518A|processed_transcript|NON_CODING|ENST00000534948|6|1) 96,29, 10 112572458 rs1417635 G T,C . . RS=1417635;RSPOS=112572458;RV;dbSNPBuildID=88;SSR=0;SAO=0;VP=0x050100000a0104051f000100;WGT=1;VC=SNV;SLO;NSM;REF;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0.0009183,.,0.9991];COMMON=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGg/tCg|W768S|1227|RBM20|protein_coding|CODING|ENST00000369519|9|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tGg/tTg|W768L|1227|RBM20|protein_coding|CODING|ENST00000369519|9|1) 128, 10 118383463 rs56189579 A AG . . RS=56189579;RSPOS=118383463;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0009183,0.9991];COMMON=0;EFF=EXON(MODIFIER|||||PNLIPRP2|polymorphic_pseudogene|CODING|ENST00000433618|2|1),EXON(MODIFIER|||||PNLIPRP2|processed_transcript|CODING|ENST00000298771|3|1),EXON(MODIFIER|||||PNLIPRP2|processed_transcript|CODING|ENST00000429325|2|1),EXON(MODIFIER|||||PNLIPRP2|retained_intron|CODING|ENST00000444825|2|1),FRAME_SHIFT(HIGH||-/G|-20?|468|PNLIPRP2|protein_coding|CODING|ENST00000537242|4|1) 96,29, 10 135233541 rs2255246 A G,C . . RS=2255246;RSPOS=135233541;RV;dbSNPBuildID=100;SSR=0;SAO=0;VP=0x050100000a0104051e000100;WGT=1;VC=SNV;SLO;NSM;REF;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.003673,0.9963,.];COMMON=1;EFF=DOWNSTREAM(MODIFIER||629||151|SPRN|protein_coding|CODING|ENST00000414069||1),DOWNSTREAM(MODIFIER||629||151|SPRN|protein_coding|CODING|ENST00000414069||2),DOWNSTREAM(MODIFIER||630||151|SPRN|protein_coding|CODING|ENST00000541506||1),DOWNSTREAM(MODIFIER||630||151|SPRN|protein_coding|CODING|ENST00000541506||2),EXON(MODIFIER|||||MTG1|retained_intron|CODING|ENST00000460848|10|1),EXON(MODIFIER|||||MTG1|retained_intron|CODING|ENST00000460848|10|2),EXON(MODIFIER|||||MTG1|retained_intron|CODING|ENST00000473735|10|1),EXON(MODIFIER|||||MTG1|retained_intron|CODING|ENST00000473735|10|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Ctt|I242L|283|MTG1|protein_coding|CODING|ENST00000432508|9|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Ctt|I252L|293|MTG1|protein_coding|CODING|ENST00000477902|11|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Ctt|I293L|334|MTG1|protein_coding|CODING|ENST00000317502|11|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Ctt|I298L|339|RP11-108K14.8|protein_coding|CODING|ENST00000468317|12|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I242V|283|MTG1|protein_coding|CODING|ENST00000432508|9|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I252V|293|MTG1|protein_coding|CODING|ENST00000477902|11|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I293V|334|MTG1|protein_coding|CODING|ENST00000317502|11|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Att/Gtt|I298V|339|RP11-108K14.8|protein_coding|CODING|ENST00000468317|12|1) 161,1, 11 14101493 rs5789820 G GC . . RS=5789820;RSPOS=14101493;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=EXON(MODIFIER|||||SPON1|processed_transcript|NON_CODING|ENST00000533633|5|1),INTRON(MODIFIER|||||SPON1|processed_transcript|NON_CODING|ENST00000310358|5|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SPON1|processed_transcript|NON_CODING|ENST00000310358|6|1),SPLICE_SITE_DONOR(HIGH|||||SPON1|processed_transcript|NON_CODING|ENST00000310358|5|1) 95,29, 11 46342081 rs67946579 TG T . . RS=67946579;RSPOS=46342082;RV;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.00551,0.9945];COMMON=1;EFF=DOWNSTREAM(MODIFIER||232|||CREB3L1|processed_transcript|CODING|ENST00000534616||1),INTRON(MODIFIER||||519|CREB3L1|protein_coding|CODING|ENST00000288400|11|1),INTRON(MODIFIER||||519|CREB3L1|protein_coding|CODING|ENST00000529193|11|1),INTRON(MODIFIER|||||CREB3L1|retained_intron|CODING|ENST00000530244|3|1),SPLICE_SITE_DONOR(HIGH||||519|CREB3L1|protein_coding|CODING|ENST00000288400|11|1),SPLICE_SITE_DONOR(HIGH||||519|CREB3L1|protein_coding|CODING|ENST00000529193|11|1),SPLICE_SITE_DONOR(HIGH|||||CREB3L1|retained_intron|CODING|ENST00000530244|3|1) 102,25, 11 46342259 rs79068197 A AG . . RS=79068197;RSPOS=46342259;dbSNPBuildID=131;SSR=0;SAO=0;VP=0x05010000000100010e000200;WGT=1;VC=DIV;SLO;GNO;KGPilot123;KGPROD;OTHERKG;EFF=DOWNSTREAM(MODIFIER||410|||CREB3L1|processed_transcript|CODING|ENST00000534616||1),EXON(MODIFIER|||||CREB3L1|retained_intron|CODING|ENST00000530244|4|1),FRAME_SHIFT(HIGH||-/G|-508?|519|CREB3L1|protein_coding|CODING|ENST00000529193|12|1),INTRON(MODIFIER||||519|CREB3L1|protein_coding|CODING|ENST00000288400|11|1),SPLICE_SITE_ACCEPTOR(HIGH||||519|CREB3L1|protein_coding|CODING|ENST00000288400|12|1) 100,29, 11 55595116 rs75822385 G A,C . . RS=75822385;RSPOS=55595116;dbSNPBuildID=131;SSR=0;SAO=0;VP=0x050100000a01050116000100;WGT=1;VC=SNV;SLO;NSM;REF;VLD;G5;GNO;KGPhase1;KGPROD;OTHERKG;CAF=[0.994,0.005969,.];COMMON=1;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cAt|R141H|311|OR5L2|protein_coding|CODING|ENST00000378397|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cGt/cCt|R141P|311|OR5L2|protein_coding|CODING|ENST00000378397|1|2) 5,20, 11 56143784 rs76325618 C A,T . . RS=76325618;RSPOS=56143784;dbSNPBuildID=131;SSR=0;SAO=0;VP=0x050200000a01100116000100;WGT=1;VC=SNV;S3D;NSM;REF;GNO;KGPhase1;KGPROD;OTHERKG;CAF=[0.9853,.,0.01469];COMMON=1;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Aat|H229N|309|OR8U1|protein_coding|CODING|ENST00000302270|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cat/Tat|H229Y|309|OR8U1|protein_coding|CODING|ENST00000302270|1|2) 22, 11 64677293 rs656195 G T,C . . RS=656195;RSPOS=64677293;RV;dbSNPBuildID=83;SSR=0;SAO=0;VP=0x050100000a0104011e000100;WGT=1;VC=SNV;SLO;NSM;REF;VLD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0004591,.,0.9995];COMMON=0;EFF=DOWNSTREAM(MODIFIER||2790|||ATG2A|retained_intron|CODING|ENST00000461701||1),DOWNSTREAM(MODIFIER||2790|||ATG2A|retained_intron|CODING|ENST00000461701||2),DOWNSTREAM(MODIFIER||4375|||ATG2A|retained_intron|CODING|ENST00000461955||1),DOWNSTREAM(MODIFIER||4375|||ATG2A|retained_intron|CODING|ENST00000461955||2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cAg|P457Q|1741|ATG2A|protein_coding|CODING|ENST00000418259|10|1|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cAg|P656Q|1938|ATG2A|protein_coding|CODING|ENST00000377264|14|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cAg|P656Q|1940|ATG2A|protein_coding|CODING|ENST00000421419|14|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P457R|1741|ATG2A|protein_coding|CODING|ENST00000418259|10|2|WARNING_TRANSCRIPT_NO_START_CODON),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P656R|1938|ATG2A|protein_coding|CODING|ENST00000377264|14|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCg/cGg|P656R|1940|ATG2A|protein_coding|CODING|ENST00000421419|14|2) 160, 11 67258391 rs4930199 A C,G . . RS=4930199;RSPOS=67258391;dbSNPBuildID=111;SSR=0;SAO=0;VP=0x050300000a0104051e000100;WGT=1;VC=SNV;S3D;SLO;NSM;REF;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,.,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||1242|||AIP|retained_intron|CODING|ENST00000529797||1),DOWNSTREAM(MODIFIER||1242|||AIP|retained_intron|CODING|ENST00000529797||2),DOWNSTREAM(MODIFIER||2524|||PITPNM1|processed_transcript|CODING|ENST00000526450||1),DOWNSTREAM(MODIFIER||2524|||PITPNM1|processed_transcript|CODING|ENST00000526450||2),DOWNSTREAM(MODIFIER||267||188|AIP|protein_coding|CODING|ENST00000525341||1),DOWNSTREAM(MODIFIER||267||188|AIP|protein_coding|CODING|ENST00000525341||2),DOWNSTREAM(MODIFIER||3376|||PITPNM1|processed_transcript|CODING|ENST00000525568||1),DOWNSTREAM(MODIFIER||3376|||PITPNM1|processed_transcript|CODING|ENST00000525568||2),DOWNSTREAM(MODIFIER||34||231|AIP|protein_coding|CODING|ENST00000528641||1),DOWNSTREAM(MODIFIER||34||231|AIP|protein_coding|CODING|ENST00000528641||2),DOWNSTREAM(MODIFIER||4220|||PITPNM1|processed_transcript|CODING|ENST00000526602||1),DOWNSTREAM(MODIFIER||4220|||PITPNM1|processed_transcript|CODING|ENST00000526602||2),DOWNSTREAM(MODIFIER||848||1243|PITPNM1|protein_coding|CODING|ENST00000436757||1),DOWNSTREAM(MODIFIER||848||1243|PITPNM1|protein_coding|CODING|ENST00000436757||2),DOWNSTREAM(MODIFIER||848||1244|PITPNM1|protein_coding|CODING|ENST00000534749||1),DOWNSTREAM(MODIFIER||848||1244|PITPNM1|protein_coding|CODING|ENST00000534749||2),DOWNSTREAM(MODIFIER||849||1244|PITPNM1|protein_coding|CODING|ENST00000356404||1),DOWNSTREAM(MODIFIER||849||1244|PITPNM1|protein_coding|CODING|ENST00000356404||2),DOWNSTREAM(MODIFIER||849|||PITPNM1|retained_intron|CODING|ENST00000527370||1),DOWNSTREAM(MODIFIER||849|||PITPNM1|retained_intron|CODING|ENST00000527370||2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cCg|Q307P|330|AIP|protein_coding|CODING|ENST00000279146|6|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q307R|330|AIP|protein_coding|CODING|ENST00000279146|6|2) 159, 11 67431974 rs77341916 C T . . RS=77341916;RSPOS=67431974;dbSNPBuildID=131;SSR=0;SAO=0;VP=0x050200000a01140416000100;WGT=1;VC=SNV;S3D;NSM;REF;VLD;HD;KGPhase1;KGPROD;OTHERKG;CAF=[0.9752,0.02479];COMMON=1;EFF=DOWNSTREAM(MODIFIER||1045||146|ALDH3B2|protein_coding|CODING|ENST00000525827||1),DOWNSTREAM(MODIFIER||1654||93|ALDH3B2|protein_coding|CODING|ENST00000528756||1),DOWNSTREAM(MODIFIER||2071|||ALDH3B2|processed_transcript|CODING|ENST00000531881||1),DOWNSTREAM(MODIFIER||2144|||ALDH3B2|processed_transcript|CODING|ENST00000533962||1),EXON(MODIFIER|||||ALDH3B2|retained_intron|CODING|ENST00000534425|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G256R|385|ALDH3B2|protein_coding|CODING|ENST00000349015|8|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G256R|385|ALDH3B2|protein_coding|CODING|ENST00000530069|8|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ggg/Agg|G26R|127|ALDH3B2|protein_coding|CODING|ENST00000531248|2|1|WARNING_TRANSCRIPT_NO_START_CODON) rs77341916,0.007456, 15, 11 67765163 rs5792426 A AG . . RS=5792426;RSPOS=67765163;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x05000000120100000e000200;WGT=1;VC=DIV;NSF;REF;KGPilot123;KGPROD;OTHERKG;EFF=DOWNSTREAM(MODIFIER||1482|||UNC93B1|retained_intron|CODING|ENST00000528096||1),DOWNSTREAM(MODIFIER||1622|||UNC93B1|retained_intron|CODING|ENST00000530138||1),DOWNSTREAM(MODIFIER||1825|||UNC93B1|nonsense_mediated_decay|CODING|ENST00000531152||1),DOWNSTREAM(MODIFIER||665|||UNC93B1|retained_intron|CODING|ENST00000533424||1),DOWNSTREAM(MODIFIER||683|||UNC93B1|nonsense_mediated_decay|CODING|ENST00000524455||1),DOWNSTREAM(MODIFIER||693||179|UNC93B1|protein_coding|CODING|ENST00000528423||1),EXON(MODIFIER|||||UNC93B1|processed_transcript|CODING|ENST00000530331|7|1),EXON(MODIFIER|||||UNC93B1|processed_transcript|CODING|ENST00000533966|3|1),EXON(MODIFIER|||||UNC93B1|retained_intron|CODING|ENST00000525743|7|1),INTRON(MODIFIER||||596|UNC93B1|protein_coding|CODING|ENST00000227471|7|1),SPLICE_SITE_ACCEPTOR(HIGH||||596|UNC93B1|protein_coding|CODING|ENST00000227471|8|1),SPLICE_SITE_DONOR(HIGH||||596|UNC93B1|protein_coding|CODING|ENST00000227471|7|1),UPSTREAM(MODIFIER||1713|||UNC93B1|retained_intron|CODING|ENST00000525368||1) 100,29, 11 67786064 rs199923261 A C . . RS=199923261;RSPOS=67786064;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050200080a01000002000100;WGT=1;VC=SNV;S3D;NSM;REF;INT;OTHERKG;EFF=EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000433100|3|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000434449|3|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000525518|3|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000526609|1|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000527179|2|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000531459|3|1),EXON(MODIFIER|||||ALDH3B1|retained_intron|CODING|ENST00000529232|2|1),INTRON(MODIFIER||||429|ALDH3B1|protein_coding|CODING|ENST00000342456|2|1),INTRON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000530046|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N77T|229|ALDH3B1|protein_coding|CODING|ENST00000316367|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N77T|465|ALDH3B1|protein_coding|CODING|ENST00000007633|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N77T|465|ALDH3B1|protein_coding|CODING|ENST00000539229|3|1),UPSTREAM(MODIFIER||3248|||ALDH3B1|processed_transcript|CODING|ENST00000527514||1) rs199923261,0, 99,15, 11 67786064 rs11433668 A AC . . RS=11433668;RSPOS=67786064;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05030008120100011e000200;WGT=1;VC=DIV;S3D;SLO;NSF;REF;INT;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000433100|3|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000434449|3|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000525518|3|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000526609|1|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000527179|2|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000531459|3|1),EXON(MODIFIER|||||ALDH3B1|retained_intron|CODING|ENST00000529232|2|1),FRAME_SHIFT(HIGH||-/C|-77?|229|ALDH3B1|protein_coding|CODING|ENST00000316367|3|1),FRAME_SHIFT(HIGH||-/C|-77?|465|ALDH3B1|protein_coding|CODING|ENST00000007633|3|1),FRAME_SHIFT(HIGH||-/C|-77?|465|ALDH3B1|protein_coding|CODING|ENST00000539229|3|1),INTRON(MODIFIER||||429|ALDH3B1|protein_coding|CODING|ENST00000342456|2|1),INTRON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000530046|2|1),UPSTREAM(MODIFIER||3247|||ALDH3B1|processed_transcript|CODING|ENST00000527514||1) 99,15, 11 67789293 rs58160034 G GC . . RS=58160034;RSPOS=67789293;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05030000120500011e000200;WGT=1;VC=DIV;S3D;SLO;NSF;REF;ASP;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0004591,0.9995];COMMON=0;EFF=DOWNSTREAM(MODIFIER||2983|||RP5-901A4.1|antisense|NON_CODING|ENST00000532296||1),DOWNSTREAM(MODIFIER||303|||ALDH3B1|processed_transcript|CODING|ENST00000525518||1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000433100|7|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000434449|7|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000526609|5|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000527179|5|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000530046|6|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000531459|6|1),EXON(MODIFIER|||||ALDH3B1|retained_intron|CODING|ENST00000529232|6|1),FRAME_SHIFT(HIGH||-/C|-264?|429|ALDH3B1|protein_coding|CODING|ENST00000342456|7|1),FRAME_SHIFT(HIGH||-/C|-300?|465|ALDH3B1|protein_coding|CODING|ENST00000007633|9|1),FRAME_SHIFT(HIGH||-/C|-300?|465|ALDH3B1|protein_coding|CODING|ENST00000539229|9|1),INTRON(MODIFIER||||229|ALDH3B1|protein_coding|CODING|ENST00000316367|8|1),UPSTREAM(MODIFIER||18|||ALDH3B1|processed_transcript|CODING|ENST00000527514||1) 121,29, 11 67795378 rs11436139 G GC . . RS=11436139;RSPOS=67795378;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05000000120100001e000200;WGT=1;VC=DIV;NSF;REF;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||3296|||ALDH3B1|processed_transcript|CODING|ENST00000527514||1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000433100|10|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000434449|10|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000527179|8|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000530046|9|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000531459|9|1),EXON(MODIFIER|||||ALDH3B1|retained_intron|CODING|ENST00000529232|9|1),INTRON(MODIFIER||||229|ALDH3B1|protein_coding|CODING|ENST00000316367|8|1),INTRON(MODIFIER||||429|ALDH3B1|protein_coding|CODING|ENST00000342456|10|1),INTRON(MODIFIER||||465|ALDH3B1|protein_coding|CODING|ENST00000007633|12|1),INTRON(MODIFIER||||465|ALDH3B1|protein_coding|CODING|ENST00000539229|12|1),INTRON(MODIFIER|||||RP5-901A4.1|antisense|NON_CODING|ENST00000532296|2|1),SPLICE_SITE_ACCEPTOR(HIGH||||429|ALDH3B1|protein_coding|CODING|ENST00000342456|11|1),SPLICE_SITE_ACCEPTOR(HIGH||||465|ALDH3B1|protein_coding|CODING|ENST00000007633|13|1),SPLICE_SITE_ACCEPTOR(HIGH||||465|ALDH3B1|protein_coding|CODING|ENST00000539229|13|1),SPLICE_SITE_DONOR(HIGH||||429|ALDH3B1|protein_coding|CODING|ENST00000342456|10|1),SPLICE_SITE_DONOR(HIGH||||465|ALDH3B1|protein_coding|CODING|ENST00000007633|12|1),SPLICE_SITE_DONOR(HIGH||||465|ALDH3B1|protein_coding|CODING|ENST00000539229|12|1),UPSTREAM(MODIFIER||2705|||NDUFS8|retained_intron|CODING|ENST00000432321||1),UPSTREAM(MODIFIER||2715||210|NDUFS8|protein_coding|CODING|ENST00000313468||1),UPSTREAM(MODIFIER||2741|||NDUFS8|retained_intron|CODING|ENST00000531796||1),UPSTREAM(MODIFIER||2753||123|NDUFS8|protein_coding|CODING|ENST00000453471||1),UPSTREAM(MODIFIER||2772|||NDUFS8|nonsense_mediated_decay|CODING|ENST00000526446||1),UPSTREAM(MODIFIER||2776||64|NDUFS8|protein_coding|CODING|ENST00000528492||1),UPSTREAM(MODIFIER||2801|||NDUFS8|retained_intron|CODING|ENST00000532399||1),UPSTREAM(MODIFIER||2831||183|NDUFS8|protein_coding|CODING|ENST00000526339||1),UPSTREAM(MODIFIER||2831|||NDUFS8|nonsense_mediated_decay|CODING|ENST00000531228||1),UPSTREAM(MODIFIER||2848||137|NDUFS8|protein_coding|CODING|ENST00000525419||1),UPSTREAM(MODIFIER||3054||109|NDUFS8|protein_coding|CODING|ENST00000525628||1),UPSTREAM(MODIFIER||4249|||NDUFS8|nonsense_mediated_decay|CODING|ENST00000529645||1) 99,19, 11 67795378 rs58238184 G GC . . RS=58238184;RSPOS=67795379;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x050100001201000102000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;OTHERKG;CAF=[0,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||3296|||ALDH3B1|processed_transcript|CODING|ENST00000527514||1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000433100|10|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000434449|10|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000527179|8|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000530046|9|1),EXON(MODIFIER|||||ALDH3B1|processed_transcript|CODING|ENST00000531459|9|1),EXON(MODIFIER|||||ALDH3B1|retained_intron|CODING|ENST00000529232|9|1),INTRON(MODIFIER||||229|ALDH3B1|protein_coding|CODING|ENST00000316367|8|1),INTRON(MODIFIER||||429|ALDH3B1|protein_coding|CODING|ENST00000342456|10|1),INTRON(MODIFIER||||465|ALDH3B1|protein_coding|CODING|ENST00000007633|12|1),INTRON(MODIFIER||||465|ALDH3B1|protein_coding|CODING|ENST00000539229|12|1),INTRON(MODIFIER|||||RP5-901A4.1|antisense|NON_CODING|ENST00000532296|2|1),SPLICE_SITE_ACCEPTOR(HIGH||||429|ALDH3B1|protein_coding|CODING|ENST00000342456|11|1),SPLICE_SITE_ACCEPTOR(HIGH||||465|ALDH3B1|protein_coding|CODING|ENST00000007633|13|1),SPLICE_SITE_ACCEPTOR(HIGH||||465|ALDH3B1|protein_coding|CODING|ENST00000539229|13|1),SPLICE_SITE_DONOR(HIGH||||429|ALDH3B1|protein_coding|CODING|ENST00000342456|10|1),SPLICE_SITE_DONOR(HIGH||||465|ALDH3B1|protein_coding|CODING|ENST00000007633|12|1),SPLICE_SITE_DONOR(HIGH||||465|ALDH3B1|protein_coding|CODING|ENST00000539229|12|1),UPSTREAM(MODIFIER||2705|||NDUFS8|retained_intron|CODING|ENST00000432321||1),UPSTREAM(MODIFIER||2715||210|NDUFS8|protein_coding|CODING|ENST00000313468||1),UPSTREAM(MODIFIER||2741|||NDUFS8|retained_intron|CODING|ENST00000531796||1),UPSTREAM(MODIFIER||2753||123|NDUFS8|protein_coding|CODING|ENST00000453471||1),UPSTREAM(MODIFIER||2772|||NDUFS8|nonsense_mediated_decay|CODING|ENST00000526446||1),UPSTREAM(MODIFIER||2776||64|NDUFS8|protein_coding|CODING|ENST00000528492||1),UPSTREAM(MODIFIER||2801|||NDUFS8|retained_intron|CODING|ENST00000532399||1),UPSTREAM(MODIFIER||2831||183|NDUFS8|protein_coding|CODING|ENST00000526339||1),UPSTREAM(MODIFIER||2831|||NDUFS8|nonsense_mediated_decay|CODING|ENST00000531228||1),UPSTREAM(MODIFIER||2848||137|NDUFS8|protein_coding|CODING|ENST00000525419||1),UPSTREAM(MODIFIER||3054||109|NDUFS8|protein_coding|CODING|ENST00000525628||1),UPSTREAM(MODIFIER||4249|||NDUFS8|nonsense_mediated_decay|CODING|ENST00000529645||1) 99,19, 11 76751603 rs11292200 CT C . . RS=11292200;RSPOS=76751604;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.001837,0.9982];COMMON=1;EFF=DOWNSTREAM(MODIFIER||645||120|B3GNT6|protein_coding|CODING|ENST00000528622||1),FRAME_SHIFT(HIGH||-/-|-215|263|B3GNT6|protein_coding|CODING|ENST00000421061|6|1),FRAME_SHIFT(HIGH||-/-|-336|384|B3GNT6|protein_coding|CODING|ENST00000354301|5|1),FRAME_SHIFT(HIGH||-/-|-337|385|B3GNT6|protein_coding|CODING|ENST00000533140|2|1) 79,9, 11 93129483 rs12288277 G A,C . . RS=12288277;RSPOS=93129483;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x050300000a0117051f000101;WGT=1;VC=SNV;S3D;SLO;NSM;REF;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0.7906,.,0.2094];COMMON=1;EFF=EXON(MODIFIER|||||CCDC67|nonsense_mediated_decay|CODING|ENST00000531448|11|1),EXON(MODIFIER|||||CCDC67|nonsense_mediated_decay|CODING|ENST00000531448|11|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E182K|346|CCDC67|protein_coding|CODING|ENST00000525646|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E440K|603|CCDC67|protein_coding|CODING|ENST00000534747|11|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Aaa|E440K|604|CCDC67|protein_coding|CODING|ENST00000298050|11|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E182Q|346|CCDC67|protein_coding|CODING|ENST00000525646|5|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E440Q|603|CCDC67|protein_coding|CODING|ENST00000534747|11|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gaa/Caa|E440Q|604|CCDC67|protein_coding|CODING|ENST00000298050|11|2),UTR_3_PRIME(MODIFIER|||||CCDC67|nonsense_mediated_decay|CODING|ENST00000530862|11|1),UTR_3_PRIME(MODIFIER|||||CCDC67|nonsense_mediated_decay|CODING|ENST00000530862|11|2),UTR_3_PRIME(MODIFIER|||||CCDC67|nonsense_mediated_decay|CODING|ENST00000531792|11|1),UTR_3_PRIME(MODIFIER|||||CCDC67|nonsense_mediated_decay|CODING|ENST00000531792|11|2) 67, 11 94699507 rs200166995 A T . . RS=200166995;RSPOS=94699507;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050000000001000002000100;WGT=1;VC=SNV;OTHERKG;EFF=DOWNSTREAM(MODIFIER||4147|||CWC15|retained_intron|CODING|ENST00000539856||1),DOWNSTREAM(MODIFIER||4411|||CWC15|retained_intron|CODING|ENST00000542907||1),DOWNSTREAM(MODIFIER||4621|||CWC15|retained_intron|CODING|ENST00000542165||1),EXON(MODIFIER|||||CWC15|processed_transcript|CODING|ENST00000540722|2|1),EXON(MODIFIER|||||CWC15|processed_transcript|CODING|ENST00000545018|6|1),EXON(MODIFIER|||||CWC15|retained_intron|CODING|ENST00000545971|5|1),INTRON(MODIFIER||||228|CWC15|protein_coding|CODING|ENST00000279839|6|1),SPLICE_SITE_ACCEPTOR(HIGH||||228|CWC15|protein_coding|CODING|ENST00000279839|7|1),SPLICE_SITE_DONOR(HIGH||||228|CWC15|protein_coding|CODING|ENST00000279839|6|1) rs200166995,0, 99,29, 11 94699507 rs34805065 A AT . . RS=34805065;RSPOS=94699507;dbSNPBuildID=126;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||4146|||CWC15|retained_intron|CODING|ENST00000539856||1),DOWNSTREAM(MODIFIER||4410|||CWC15|retained_intron|CODING|ENST00000542907||1),DOWNSTREAM(MODIFIER||4620|||CWC15|retained_intron|CODING|ENST00000542165||1),EXON(MODIFIER|||||CWC15|processed_transcript|CODING|ENST00000540722|2|1),EXON(MODIFIER|||||CWC15|processed_transcript|CODING|ENST00000545018|6|1),EXON(MODIFIER|||||CWC15|retained_intron|CODING|ENST00000545971|5|1),INTRON(MODIFIER||||228|CWC15|protein_coding|CODING|ENST00000279839|6|1),SPLICE_SITE_ACCEPTOR(HIGH||||228|CWC15|protein_coding|CODING|ENST00000279839|7|1),SPLICE_SITE_DONOR(HIGH||||228|CWC15|protein_coding|CODING|ENST00000279839|6|1) 99,29, 11 111853106 rs371511377 G C . . RS=371511377;RSPOS=111853106;dbSNPBuildID=138;SSR=0;SAO=0;VP=0x050000000a01000002000100;WGT=1;VC=SNV;NSM;REF;OTHERKG;EFF=EXON(MODIFIER|||||DIXDC1|processed_transcript|CODING|ENST00000389821|7|1),EXON(MODIFIER|||||DIXDC1|processed_transcript|CODING|ENST00000524385|3|1),EXON(MODIFIER|||||DIXDC1|processed_transcript|CODING|ENST00000530411|3|1),EXON(MODIFIER|||||DIXDC1|retained_intron|CODING|ENST00000524609|1|1),INTRON(MODIFIER||||471|DIXDC1|protein_coding|CODING|ENST00000315253|3|1),INTRON(MODIFIER||||682|DIXDC1|protein_coding|CODING|ENST00000440460|7|1),SPLICE_SITE_ACCEPTOR(HIGH||||471|DIXDC1|protein_coding|CODING|ENST00000315253|4|1),SPLICE_SITE_ACCEPTOR(HIGH||||682|DIXDC1|protein_coding|CODING|ENST00000440460|8|1),SPLICE_SITE_DONOR(HIGH||||471|DIXDC1|protein_coding|CODING|ENST00000315253|3|1),SPLICE_SITE_DONOR(HIGH||||682|DIXDC1|protein_coding|CODING|ENST00000440460|7|1) 97,29, 11 111853106 rs11455434 G GC . . RS=11455434;RSPOS=111853106;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05010000120100010e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPilot123;KGPROD;OTHERKG;EFF=EXON(MODIFIER|||||DIXDC1|processed_transcript|CODING|ENST00000389821|7|1),EXON(MODIFIER|||||DIXDC1|processed_transcript|CODING|ENST00000524385|3|1),EXON(MODIFIER|||||DIXDC1|processed_transcript|CODING|ENST00000530411|3|1),EXON(MODIFIER|||||DIXDC1|retained_intron|CODING|ENST00000524609|1|1),FRAME_SHIFT(HIGH||-/C|-271?|682|DIXDC1|protein_coding|CODING|ENST00000440460|8|1),FRAME_SHIFT(HIGH||-/C|-60?|471|DIXDC1|protein_coding|CODING|ENST00000315253|4|1) 97,29, 11 118939939 rs199535207 T C . . RS=199535207;RSPOS=118939939;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050000000a01000402000100;WGT=1;VC=SNV;NSM;REF;HD;OTHERKG;EFF=EXON(MODIFIER|||||VPS11|processed_transcript|CODING|ENST00000527798|2|1),EXON(MODIFIER|||||VPS11|processed_transcript|CODING|ENST00000531528|2|1),EXON(MODIFIER|||||VPS11|retained_intron|CODING|ENST00000529838|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tcc/Ccc|S74P|940|VPS11|protein_coding|CODING|ENST00000300793|2|1),UPSTREAM(MODIFIER||1530|||RP11-110I1.13|antisense|NON_CODING|ENST00000607709||1),UPSTREAM(MODIFIER||2803|||VPS11|retained_intron|CODING|ENST00000526829||1),UPSTREAM(MODIFIER||324|||VPS11|retained_intron|CODING|ENST00000529545||1),UPSTREAM(MODIFIER||3551|||RP11-110I1.14|lincRNA|NON_CODING|ENST00000607857||1),UPSTREAM(MODIFIER||4593|||VPS11|processed_transcript|CODING|ENST00000530809||1) rs199535207,0, 94,29, 11 118939939 rs5795166 T TC . . RS=5795166;RSPOS=118939939;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x05010000120100011e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=EXON(MODIFIER|||||VPS11|processed_transcript|CODING|ENST00000527798|2|1),EXON(MODIFIER|||||VPS11|processed_transcript|CODING|ENST00000531528|2|1),EXON(MODIFIER|||||VPS11|retained_intron|CODING|ENST00000529838|2|1),FRAME_SHIFT(HIGH||-/C|-74?|940|VPS11|protein_coding|CODING|ENST00000300793|2|1),UPSTREAM(MODIFIER||1531|||RP11-110I1.13|antisense|NON_CODING|ENST00000607709||1),UPSTREAM(MODIFIER||2802|||VPS11|retained_intron|CODING|ENST00000526829||1),UPSTREAM(MODIFIER||323|||VPS11|retained_intron|CODING|ENST00000529545||1),UPSTREAM(MODIFIER||3552|||RP11-110I1.14|lincRNA|NON_CODING|ENST00000607857||1),UPSTREAM(MODIFIER||4592|||VPS11|processed_transcript|CODING|ENST00000530809||1) 94,29, 11 125452300 rs55912941 A AC . . RS=55912941;RSPOS=125452300;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000120100011e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||2207|||EI24|retained_intron|CODING|ENST00000534546||1),DOWNSTREAM(MODIFIER||3337||186|EI24|protein_coding|CODING|ENST00000527842||1),DOWNSTREAM(MODIFIER||3376||216|EI24|protein_coding|CODING|ENST00000524723||1),DOWNSTREAM(MODIFIER||4214||124|EI24|protein_coding|CODING|ENST00000527131||1),DOWNSTREAM(MODIFIER||4243|||EI24|processed_transcript|CODING|ENST00000531636||1),DOWNSTREAM(MODIFIER||4517|||EI24|retained_intron|CODING|ENST00000529765||1),DOWNSTREAM(MODIFIER||4541|||EI24|nonsense_mediated_decay|CODING|ENST00000527235||1),DOWNSTREAM(MODIFIER||4835||90|EI24|protein_coding|CODING|ENST00000527520||1),DOWNSTREAM(MODIFIER||8|||EI24|retained_intron|CODING|ENST00000530540||1),EXON(MODIFIER|||||EI24|processed_transcript|CODING|ENST00000527628|10|1),EXON(MODIFIER|||||EI24|processed_transcript|CODING|ENST00000527675|10|1),EXON(MODIFIER|||||EI24|processed_transcript|CODING|ENST00000530985|10|1),EXON(MODIFIER|||||EI24|processed_transcript|CODING|ENST00000531350|9|1),EXON(MODIFIER|||||EI24|processed_transcript|CODING|ENST00000534430|10|1),EXON(MODIFIER|||||EI24|processed_transcript|CODING|ENST00000535422|9|1),EXON(MODIFIER|||||EI24|retained_intron|CODING|ENST00000525737|10|1),FRAME_SHIFT(HIGH||-/C|-245?|261|EI24|protein_coding|CODING|ENST00000343678|9|1),INTRON(MODIFIER||||339|EI24|protein_coding|CODING|ENST00000278903|10|1),INTRON(MODIFIER|||||STT3A-AS1|antisense|NON_CODING|ENST00000530526|1|1),INTRON(MODIFIER|||||STT3A-AS1|antisense|NON_CODING|ENST00000532714|1|1),SPLICE_SITE_ACCEPTOR(HIGH||||339|EI24|protein_coding|CODING|ENST00000278903|11|1),SPLICE_SITE_DONOR(HIGH||||339|EI24|protein_coding|CODING|ENST00000278903|10|1) 100,29, 12 6938023 rs200733625 C G . . RS=200733625;RSPOS=6938023;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050000000a01000002000100;WGT=1;VC=SNV;NSM;REF;OTHERKG;EFF=DOWNSTREAM(MODIFIER||1437||284|GPR162|protein_coding|CODING|ENST00000382315||1),DOWNSTREAM(MODIFIER||1437||304|GPR162|protein_coding|CODING|ENST00000428545||1),DOWNSTREAM(MODIFIER||1437|||GPR162|processed_transcript|CODING|ENST00000542330||1),DOWNSTREAM(MODIFIER||1440||588|GPR162|protein_coding|CODING|ENST00000311268||1),DOWNSTREAM(MODIFIER||3685|||GPR162|retained_intron|CODING|ENST00000535220||1),DOWNSTREAM(MODIFIER||4441|||GPR162|processed_transcript|CODING|ENST00000541431||1),EXON(MODIFIER|||||LEPREL2|polymorphic_pseudogene|CODING|ENST00000606935|1|1),INTRON(MODIFIER||||226|GPR162|protein_coding|CODING|ENST00000545321|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgc/Ggc|R140G|735|LEPREL2|protein_coding|CODING|ENST00000396725|1|1),UPSTREAM(MODIFIER||1625|||LEPREL2|processed_transcript|CODING|ENST00000538102||1),UPSTREAM(MODIFIER||165|||LEPREL2|retained_intron|CODING|ENST00000536140||1),UPSTREAM(MODIFIER||2429|||LEPREL2|retained_intron|CODING|ENST00000541956||1),UPSTREAM(MODIFIER||2964|||LEPREL2|retained_intron|CODING|ENST00000544200||1),UPSTREAM(MODIFIER||2984|||LEPREL2|retained_intron|CODING|ENST00000544949||1),UPSTREAM(MODIFIER||449|||LEPREL2|processed_transcript|CODING|ENST00000544813||1),UPSTREAM(MODIFIER||4671|||LEPREL2|retained_intron|CODING|ENST00000540406||1),UPSTREAM(MODIFIER||4756|||LEPREL2|retained_intron|CODING|ENST00000545596||1),UPSTREAM(MODIFIER||4803|||LEPREL2|retained_intron|CODING|ENST00000542976||1),UPSTREAM(MODIFIER||969|||LEPREL2|retained_intron|CODING|ENST00000290510||1),UTR_5_PRIME(MODIFIER||||551|LEPREL2|protein_coding|CODING|ENST00000251761|1|1) rs200733625,0, 75,2, 12 6938023 rs57050687 C CG . . RS=57050687;RSPOS=6938023;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.002755,0.9972];COMMON=1;EFF=DOWNSTREAM(MODIFIER||1438||284|GPR162|protein_coding|CODING|ENST00000382315||1),DOWNSTREAM(MODIFIER||1438||304|GPR162|protein_coding|CODING|ENST00000428545||1),DOWNSTREAM(MODIFIER||1438|||GPR162|processed_transcript|CODING|ENST00000542330||1),DOWNSTREAM(MODIFIER||1441||588|GPR162|protein_coding|CODING|ENST00000311268||1),DOWNSTREAM(MODIFIER||3686|||GPR162|retained_intron|CODING|ENST00000535220||1),DOWNSTREAM(MODIFIER||4442|||GPR162|processed_transcript|CODING|ENST00000541431||1),EXON(MODIFIER|||||LEPREL2|polymorphic_pseudogene|CODING|ENST00000606935|1|1),FRAME_SHIFT(HIGH||-/G|-140?|735|LEPREL2|protein_coding|CODING|ENST00000396725|1|1),INTRON(MODIFIER||||226|GPR162|protein_coding|CODING|ENST00000545321|3|1),UPSTREAM(MODIFIER||1624|||LEPREL2|processed_transcript|CODING|ENST00000538102||1),UPSTREAM(MODIFIER||164|||LEPREL2|retained_intron|CODING|ENST00000536140||1),UPSTREAM(MODIFIER||2428|||LEPREL2|retained_intron|CODING|ENST00000541956||1),UPSTREAM(MODIFIER||2963|||LEPREL2|retained_intron|CODING|ENST00000544200||1),UPSTREAM(MODIFIER||2983|||LEPREL2|retained_intron|CODING|ENST00000544949||1),UPSTREAM(MODIFIER||448|||LEPREL2|processed_transcript|CODING|ENST00000544813||1),UPSTREAM(MODIFIER||4670|||LEPREL2|retained_intron|CODING|ENST00000540406||1),UPSTREAM(MODIFIER||4755|||LEPREL2|retained_intron|CODING|ENST00000545596||1),UPSTREAM(MODIFIER||4802|||LEPREL2|retained_intron|CODING|ENST00000542976||1),UPSTREAM(MODIFIER||968|||LEPREL2|retained_intron|CODING|ENST00000290510||1),UTR_5_PRIME(MODIFIER||||551|LEPREL2|protein_coding|CODING|ENST00000251761|1|1) 75,2, 12 7045891 rs377147612 ACAGCAGCAGCAGCAG A . . RS=377147612;RSPOS=7045892;dbSNPBuildID=138;SSR=0;SAO=0;VP=0x050000000001000002000200;WGT=1;VC=DIV;OTHERKG;EFF=CODON_DELETION(MODERATE||cagcagcagcagcag/-|QQQQQ488-|1190|ATN1|protein_coding|CODING|ENST00000356654|5|1),CODON_DELETION(MODERATE||cagcagcagcagcag/-|QQQQQ488-|1190|ATN1|protein_coding|CODING|ENST00000396684|5|1),UPSTREAM(MODIFIER||2378|||ATN1|retained_intron|CODING|ENST00000537488||1),UPSTREAM(MODIFIER||969|||ATN1|retained_intron|CODING|ENST00000541029||1) 11,7,2,12,5,6,1,7,1, 12 7045891 rs66756893 ACAGCAGCAGCAGCAGCAGCAG A . . RS=66756893;RSPOS=7045892;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x050000000001000002000200;WGT=1;VC=DIV;OTHERKG;EFF=CODON_DELETION(MODERATE||cagcagcagcagcagcagcag/-|QQQQQQQ488-|1190|ATN1|protein_coding|CODING|ENST00000356654|5|1),CODON_DELETION(MODERATE||cagcagcagcagcagcagcag/-|QQQQQQQ488-|1190|ATN1|protein_coding|CODING|ENST00000396684|5|1),UPSTREAM(MODIFIER||2378|||ATN1|retained_intron|CODING|ENST00000537488||1),UPSTREAM(MODIFIER||969|||ATN1|retained_intron|CODING|ENST00000541029||1) 11,7,2,12,5,6,1,7,1, 12 7080210 rs200041551 A G . . RS=200041551;RSPOS=7080210;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050200020a01000402000100;WGT=1;VC=SNV;S3D;NSM;REF;R5;HD;OTHERKG;EFF=EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000539535|1|1),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000541016|1|1),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000546220|1|1),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000564245|1|1),EXON(MODIFIER|||||EMG1|retained_intron|CODING|ENST00000451846|1|1),EXON(MODIFIER|||||EMG1|retained_intron|CODING|ENST00000539440|1|1),INTRON(MODIFIER||||243|EMG1|protein_coding|CODING|ENST00000261406|1|1),INTRON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000607161|1|1),SPLICE_SITE_ACCEPTOR(HIGH||||243|EMG1|protein_coding|CODING|ENST00000261406|2|1),SPLICE_SITE_DONOR(HIGH||||243|EMG1|protein_coding|CODING|ENST00000261406|1|1),UPSTREAM(MODIFIER||13|||EMG1|processed_transcript|CODING|ENST00000539196||1),UPSTREAM(MODIFIER||222||299|PHB2|protein_coding|CODING|ENST00000535923||1),UPSTREAM(MODIFIER||294||299|PHB2|protein_coding|CODING|ENST00000399433||1),UPSTREAM(MODIFIER||296||87|PHB2|protein_coding|CODING|ENST00000546111||1),UPSTREAM(MODIFIER||3085||101|PHB2|protein_coding|CODING|ENST00000545555||1),UPSTREAM(MODIFIER||331|||PHB2|retained_intron|CODING|ENST00000543465||1),UPSTREAM(MODIFIER||3441|||SCARNA12|snoRNA|NON_CODING|ENST00000459155||1),UPSTREAM(MODIFIER||345|||PHB2|retained_intron|CODING|ENST00000542294||1),UPSTREAM(MODIFIER||3472|||PHB2|retained_intron|CODING|ENST00000537646||1),UPSTREAM(MODIFIER||367|||PHB2|nonsense_mediated_decay|CODING|ENST00000544888||1),UPSTREAM(MODIFIER||380||260|PHB2|protein_coding|CODING|ENST00000545167||1),UPSTREAM(MODIFIER||388||261|PHB2|protein_coding|CODING|ENST00000440277||1),UPSTREAM(MODIFIER||398||267|PHB2|protein_coding|CODING|ENST00000542912||1),UPSTREAM(MODIFIER||402|||PHB2|processed_transcript|CODING|ENST00000544134||1),UPSTREAM(MODIFIER||402|||PHB2|retained_intron|CODING|ENST00000546217||1),UPSTREAM(MODIFIER||405||212|PHB2|protein_coding|CODING|ENST00000536316||1) rs200041551,0, 87,29, 12 7080210 rs60117710 A AG . . RS=60117710;RSPOS=7080210;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05030002120100010e000200;WGT=1;VC=DIV;S3D;SLO;NSF;REF;R5;GNO;KGPilot123;KGPROD;OTHERKG;EFF=EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000539535|1|1),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000541016|1|1),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000546220|1|1),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000564245|1|1),EXON(MODIFIER|||||EMG1|retained_intron|CODING|ENST00000451846|1|1),EXON(MODIFIER|||||EMG1|retained_intron|CODING|ENST00000539440|1|1),INTRON(MODIFIER||||243|EMG1|protein_coding|CODING|ENST00000261406|1|1),INTRON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000607161|1|1),SPLICE_SITE_ACCEPTOR(HIGH||||243|EMG1|protein_coding|CODING|ENST00000261406|2|1),SPLICE_SITE_DONOR(HIGH||||243|EMG1|protein_coding|CODING|ENST00000261406|1|1),UPSTREAM(MODIFIER||12|||EMG1|processed_transcript|CODING|ENST00000539196||1),UPSTREAM(MODIFIER||223||299|PHB2|protein_coding|CODING|ENST00000535923||1),UPSTREAM(MODIFIER||295||299|PHB2|protein_coding|CODING|ENST00000399433||1),UPSTREAM(MODIFIER||297||87|PHB2|protein_coding|CODING|ENST00000546111||1),UPSTREAM(MODIFIER||3086||101|PHB2|protein_coding|CODING|ENST00000545555||1),UPSTREAM(MODIFIER||332|||PHB2|retained_intron|CODING|ENST00000543465||1),UPSTREAM(MODIFIER||3442|||SCARNA12|snoRNA|NON_CODING|ENST00000459155||1),UPSTREAM(MODIFIER||346|||PHB2|retained_intron|CODING|ENST00000542294||1),UPSTREAM(MODIFIER||3473|||PHB2|retained_intron|CODING|ENST00000537646||1),UPSTREAM(MODIFIER||368|||PHB2|nonsense_mediated_decay|CODING|ENST00000544888||1),UPSTREAM(MODIFIER||381||260|PHB2|protein_coding|CODING|ENST00000545167||1),UPSTREAM(MODIFIER||389||261|PHB2|protein_coding|CODING|ENST00000440277||1),UPSTREAM(MODIFIER||399||267|PHB2|protein_coding|CODING|ENST00000542912||1),UPSTREAM(MODIFIER||403|||PHB2|processed_transcript|CODING|ENST00000544134||1),UPSTREAM(MODIFIER||403|||PHB2|retained_intron|CODING|ENST00000546217||1),UPSTREAM(MODIFIER||406||212|PHB2|protein_coding|CODING|ENST00000536316||1) 87,29, 12 7080212 rs17857448 T C,G . . RS=17857448;RSPOS=7080212;dbSNPBuildID=123;SSR=0;SAO=0;VP=0x050228020801000102000100;WGT=1;VC=SNV;PM;PMC;S3D;NSM;R5;GNO;OTHERKG;EFF=EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000539535|1|1),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000539535|1|2),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000541016|1|1),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000541016|1|2),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000546220|1|1),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000546220|1|2),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000564245|1|1),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000564245|1|2),EXON(MODIFIER|||||EMG1|retained_intron|CODING|ENST00000451846|1|1),EXON(MODIFIER|||||EMG1|retained_intron|CODING|ENST00000451846|1|2),EXON(MODIFIER|||||EMG1|retained_intron|CODING|ENST00000539440|1|1),EXON(MODIFIER|||||EMG1|retained_intron|CODING|ENST00000539440|1|2),INTRON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000607161|1|1),INTRON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000607161|1|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Ctt|F42L|243|EMG1|protein_coding|CODING|ENST00000261406|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Ttt/Gtt|F42V|243|EMG1|protein_coding|CODING|ENST00000261406|2|2),UPSTREAM(MODIFIER||11|||EMG1|processed_transcript|CODING|ENST00000539196||1),UPSTREAM(MODIFIER||11|||EMG1|processed_transcript|CODING|ENST00000539196||2),UPSTREAM(MODIFIER||224||299|PHB2|protein_coding|CODING|ENST00000535923||1),UPSTREAM(MODIFIER||224||299|PHB2|protein_coding|CODING|ENST00000535923||2),UPSTREAM(MODIFIER||296||299|PHB2|protein_coding|CODING|ENST00000399433||1),UPSTREAM(MODIFIER||296||299|PHB2|protein_coding|CODING|ENST00000399433||2),UPSTREAM(MODIFIER||298||87|PHB2|protein_coding|CODING|ENST00000546111||1),UPSTREAM(MODIFIER||298||87|PHB2|protein_coding|CODING|ENST00000546111||2),UPSTREAM(MODIFIER||3087||101|PHB2|protein_coding|CODING|ENST00000545555||1),UPSTREAM(MODIFIER||3087||101|PHB2|protein_coding|CODING|ENST00000545555||2),UPSTREAM(MODIFIER||333|||PHB2|retained_intron|CODING|ENST00000543465||1),UPSTREAM(MODIFIER||333|||PHB2|retained_intron|CODING|ENST00000543465||2),UPSTREAM(MODIFIER||3443|||SCARNA12|snoRNA|NON_CODING|ENST00000459155||1),UPSTREAM(MODIFIER||3443|||SCARNA12|snoRNA|NON_CODING|ENST00000459155||2),UPSTREAM(MODIFIER||3474|||PHB2|retained_intron|CODING|ENST00000537646||1),UPSTREAM(MODIFIER||3474|||PHB2|retained_intron|CODING|ENST00000537646||2),UPSTREAM(MODIFIER||347|||PHB2|retained_intron|CODING|ENST00000542294||1),UPSTREAM(MODIFIER||347|||PHB2|retained_intron|CODING|ENST00000542294||2),UPSTREAM(MODIFIER||369|||PHB2|nonsense_mediated_decay|CODING|ENST00000544888||1),UPSTREAM(MODIFIER||369|||PHB2|nonsense_mediated_decay|CODING|ENST00000544888||2),UPSTREAM(MODIFIER||382||260|PHB2|protein_coding|CODING|ENST00000545167||1),UPSTREAM(MODIFIER||382||260|PHB2|protein_coding|CODING|ENST00000545167||2),UPSTREAM(MODIFIER||390||261|PHB2|protein_coding|CODING|ENST00000440277||1),UPSTREAM(MODIFIER||390||261|PHB2|protein_coding|CODING|ENST00000440277||2),UPSTREAM(MODIFIER||400||267|PHB2|protein_coding|CODING|ENST00000542912||1),UPSTREAM(MODIFIER||400||267|PHB2|protein_coding|CODING|ENST00000542912||2),UPSTREAM(MODIFIER||404|||PHB2|processed_transcript|CODING|ENST00000544134||1),UPSTREAM(MODIFIER||404|||PHB2|processed_transcript|CODING|ENST00000544134||2),UPSTREAM(MODIFIER||404|||PHB2|retained_intron|CODING|ENST00000546217||1),UPSTREAM(MODIFIER||404|||PHB2|retained_intron|CODING|ENST00000546217||2),UPSTREAM(MODIFIER||407||212|PHB2|protein_coding|CODING|ENST00000536316||1),UPSTREAM(MODIFIER||407||212|PHB2|protein_coding|CODING|ENST00000536316||2) 13,30, 12 7080212 rs11428482 T TC . . RS=11428482;RSPOS=7080212;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x050200021201000002000200;WGT=1;VC=DIV;S3D;NSF;REF;R5;OTHERKG;EFF=EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000539535|1|1),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000541016|1|1),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000546220|1|1),EXON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000564245|1|1),EXON(MODIFIER|||||EMG1|retained_intron|CODING|ENST00000451846|1|1),EXON(MODIFIER|||||EMG1|retained_intron|CODING|ENST00000539440|1|1),FRAME_SHIFT(HIGH||-/C|-42?|243|EMG1|protein_coding|CODING|ENST00000261406|2|1),INTRON(MODIFIER|||||EMG1|processed_transcript|CODING|ENST00000607161|1|1),UPSTREAM(MODIFIER||10|||EMG1|processed_transcript|CODING|ENST00000539196||1),UPSTREAM(MODIFIER||225||299|PHB2|protein_coding|CODING|ENST00000535923||1),UPSTREAM(MODIFIER||297||299|PHB2|protein_coding|CODING|ENST00000399433||1),UPSTREAM(MODIFIER||299||87|PHB2|protein_coding|CODING|ENST00000546111||1),UPSTREAM(MODIFIER||3088||101|PHB2|protein_coding|CODING|ENST00000545555||1),UPSTREAM(MODIFIER||334|||PHB2|retained_intron|CODING|ENST00000543465||1),UPSTREAM(MODIFIER||3444|||SCARNA12|snoRNA|NON_CODING|ENST00000459155||1),UPSTREAM(MODIFIER||3475|||PHB2|retained_intron|CODING|ENST00000537646||1),UPSTREAM(MODIFIER||348|||PHB2|retained_intron|CODING|ENST00000542294||1),UPSTREAM(MODIFIER||370|||PHB2|nonsense_mediated_decay|CODING|ENST00000544888||1),UPSTREAM(MODIFIER||383||260|PHB2|protein_coding|CODING|ENST00000545167||1),UPSTREAM(MODIFIER||391||261|PHB2|protein_coding|CODING|ENST00000440277||1),UPSTREAM(MODIFIER||401||267|PHB2|protein_coding|CODING|ENST00000542912||1),UPSTREAM(MODIFIER||405|||PHB2|processed_transcript|CODING|ENST00000544134||1),UPSTREAM(MODIFIER||405|||PHB2|retained_intron|CODING|ENST00000546217||1),UPSTREAM(MODIFIER||408||212|PHB2|protein_coding|CODING|ENST00000536316||1) 13,30, 13 114312354 rs9285616 T A,G . . RS=9285616;RSPOS=114312354;dbSNPBuildID=119;SSR=0;SAO=0;VP=0x05030000080105051e000100;WGT=1;VC=SNV;S3D;SLO;NSM;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,.,1];COMMON=0;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Tgg|R36W|291|ATP4B|protein_coding|CODING|ENST00000335288|1|1),SYNONYMOUS_CODING(LOW|SILENT|Agg/Cgg|R36|291|ATP4B|protein_coding|CODING|ENST00000335288|1|2) 153, 14 68053977 rs6573783 A C,G . . RS=6573783;RSPOS=68053977;dbSNPBuildID=116;SSR=0;SAO=0;VP=0x05010080000114051f000100;WGT=1;VC=SNV;SLO;U3;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0.01377,0.9862,.];COMMON=1;EFF=DOWNSTREAM(MODIFIER||1276|||PLEKHH1|retained_intron|CODING|ENST00000559766||1),DOWNSTREAM(MODIFIER||1276|||PLEKHH1|retained_intron|CODING|ENST00000559766||2),DOWNSTREAM(MODIFIER||1658|||PLEKHH1|retained_intron|CODING|ENST00000558366||1),DOWNSTREAM(MODIFIER||1658|||PLEKHH1|retained_intron|CODING|ENST00000558366||2),DOWNSTREAM(MODIFIER||2051||188|PIGH|protein_coding|CODING|ENST00000216452||1),DOWNSTREAM(MODIFIER||2051||188|PIGH|protein_coding|CODING|ENST00000216452||2),DOWNSTREAM(MODIFIER||2454||135|PIGH|protein_coding|CODING|ENST00000558987||1),DOWNSTREAM(MODIFIER||2454||135|PIGH|protein_coding|CODING|ENST00000558987||2),DOWNSTREAM(MODIFIER||2495|||PIGH|retained_intron|CODING|ENST00000559118||1),DOWNSTREAM(MODIFIER||2495|||PIGH|retained_intron|CODING|ENST00000559118||2),DOWNSTREAM(MODIFIER||2546||187|PIGH|protein_coding|CODING|ENST00000560722||1),DOWNSTREAM(MODIFIER||2546||187|PIGH|protein_coding|CODING|ENST00000560722||2),DOWNSTREAM(MODIFIER||2733||136|PIGH|protein_coding|CODING|ENST00000558493||1),DOWNSTREAM(MODIFIER||2733||136|PIGH|protein_coding|CODING|ENST00000558493||2),DOWNSTREAM(MODIFIER||2777|||PIGH|nonsense_mediated_decay|CODING|ENST00000558198||1),DOWNSTREAM(MODIFIER||2777|||PIGH|nonsense_mediated_decay|CODING|ENST00000558198||2),DOWNSTREAM(MODIFIER||2852|||PIGH|nonsense_mediated_decay|CODING|ENST00000561303||1),DOWNSTREAM(MODIFIER||2852|||PIGH|nonsense_mediated_decay|CODING|ENST00000561303||2),DOWNSTREAM(MODIFIER||2867|||PIGH|nonsense_mediated_decay|CODING|ENST00000558001||1),DOWNSTREAM(MODIFIER||2867|||PIGH|nonsense_mediated_decay|CODING|ENST00000558001||2),DOWNSTREAM(MODIFIER||349|||PLEKHH1|processed_transcript|CODING|ENST00000559832||1),DOWNSTREAM(MODIFIER||349|||PLEKHH1|processed_transcript|CODING|ENST00000559832||2),DOWNSTREAM(MODIFIER||4549||183|PIGH|protein_coding|CODING|ENST00000559581||1),DOWNSTREAM(MODIFIER||4549||183|PIGH|protein_coding|CODING|ENST00000559581||2),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000557971|20|1),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000557971|20|2),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000558214|2|1),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000558214|2|2),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000558386|22|1),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000558386|22|2),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000559981|6|1),EXON(MODIFIER|||||PLEKHH1|retained_intron|CODING|ENST00000559981|6|2),INTRON(MODIFIER||||181|PIGH|protein_coding|CODING|ENST00000561272|3|1),INTRON(MODIFIER||||181|PIGH|protein_coding|CODING|ENST00000561272|3|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aCc|N315T|329|PLEKHH1|protein_coding|CODING|ENST00000417684|12|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aAc/aGc|N315S|329|PLEKHH1|protein_coding|CODING|ENST00000417684|12|2),UTR_3_PRIME(MODIFIER||||1364|PLEKHH1|protein_coding|CODING|ENST00000329153|29|1),UTR_3_PRIME(MODIFIER||||1364|PLEKHH1|protein_coding|CODING|ENST00000329153|29|2),UTR_3_PRIME(MODIFIER|||||PLEKHH1|nonsense_mediated_decay|CODING|ENST00000559168|2|1),UTR_3_PRIME(MODIFIER|||||PLEKHH1|nonsense_mediated_decay|CODING|ENST00000559168|2|2),UTR_3_PRIME(MODIFIER|||||PLEKHH1|nonsense_mediated_decay|CODING|ENST00000561057|4|1),UTR_3_PRIME(MODIFIER|||||PLEKHH1|nonsense_mediated_decay|CODING|ENST00000561057|4|2),UTR_3_PRIME(MODIFIER|||||PLEKHH1|nonsense_mediated_decay|CODING|ENST00000561370|12|1),UTR_3_PRIME(MODIFIER|||||PLEKHH1|nonsense_mediated_decay|CODING|ENST00000561370|12|2) 129, 14 101198417 rs6575799 A C,G . . RS=6575799;RSPOS=101198417;dbSNPBuildID=116;SSR=0;SAO=0;VP=0x05030000080104051f000100;WGT=1;VC=SNV;S3D;SLO;NSM;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0.0009183,.,0.9991];COMMON=0;EFF=DOWNSTREAM(MODIFIER||10||96|DLK1|protein_coding|CODING|ENST00000392848||1),DOWNSTREAM(MODIFIER||10||96|DLK1|protein_coding|CODING|ENST00000392848||2),DOWNSTREAM(MODIFIER||2846||136|DLK1|protein_coding|CODING|ENST00000556051||1),DOWNSTREAM(MODIFIER||2846||136|DLK1|protein_coding|CODING|ENST00000556051||2),DOWNSTREAM(MODIFIER||3390|||DLK1|retained_intron|CODING|ENST00000555747||1),DOWNSTREAM(MODIFIER||3390|||DLK1|retained_intron|CODING|ENST00000555747||2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Ggg|R101G|310|DLK1|protein_coding|CODING|ENST00000331224|4|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Agg/Ggg|R101G|383|DLK1|protein_coding|CODING|ENST00000341267|4|2),SYNONYMOUS_CODING(LOW|SILENT|Agg/Cgg|R101|310|DLK1|protein_coding|CODING|ENST00000331224|4|1),SYNONYMOUS_CODING(LOW|SILENT|Agg/Cgg|R101|383|DLK1|protein_coding|CODING|ENST00000341267|4|1) 160, 14 107282973 rs200848671 G T,C,A . . RS=200848671;RSPOS=107282973;RV;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050000000001070402000104;WGT=1;VC=SNV;VLD;G5A;G5;HD;OTHERKG;NOV;EFF=DOWNSTREAM(MODIFIER||4797|||IGHVIII-82|IG_V_pseudogene|NON_CODING|ENST00000522058||1),DOWNSTREAM(MODIFIER||4797|||IGHVIII-82|IG_V_pseudogene|NON_CODING|ENST00000522058||2),DOWNSTREAM(MODIFIER||4797|||IGHVIII-82|IG_V_pseudogene|NON_CODING|ENST00000522058||3),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cAa|P57Q|116|IGHV7-81|IG_V_gene|CODING|ENST00000390639|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cGa|P57R|116|IGHV7-81|IG_V_gene|CODING|ENST00000390639|2|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cCa/cTa|P57L|116|IGHV7-81|IG_V_gene|CODING|ENST00000390639|2|3),UPSTREAM(MODIFIER||1721|||IGHV4-80|IG_V_pseudogene|NON_CODING|ENST00000522457||1),UPSTREAM(MODIFIER||1721|||IGHV4-80|IG_V_pseudogene|NON_CODING|ENST00000522457||2),UPSTREAM(MODIFIER||1721|||IGHV4-80|IG_V_pseudogene|NON_CODING|ENST00000522457||3) 20, 15 41483636 rs200607195 C CT . . RS=200607195;RSPOS=41483636;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050000000001000002000200;WGT=1;VC=DIV;OTHERKG;EFF=DOWNSTREAM(MODIFIER||528|||RN7SL497P|misc_RNA|NON_CODING|ENST00000476341||1),INTRON(MODIFIER||||514|EXD1|protein_coding|CODING|ENST00000314992|8|1),INTRON(MODIFIER||||572|EXD1|protein_coding|CODING|ENST00000458580|10|1),SPLICE_SITE_DONOR(HIGH||||514|EXD1|protein_coding|CODING|ENST00000314992|8|1),SPLICE_SITE_DONOR(HIGH||||572|EXD1|protein_coding|CODING|ENST00000458580|10|1),UPSTREAM(MODIFIER||1069|||EXD1|retained_intron|CODING|ENST00000558881||1) 125, 15 73428224 rs113527808 T TA . . RS=113527808;RSPOS=73428226;dbSNPBuildID=132;SSR=0;SAO=0;VP=0x050100080001000102000200;WGT=1;VC=DIV;SLO;INT;GNO;OTHERKG;EFF=INTRON(MODIFIER||||1408|NEO1|protein_coding|CODING|ENST00000560262|4|1),INTRON(MODIFIER||||1450|NEO1|protein_coding|CODING|ENST00000558964|4|1),INTRON(MODIFIER||||1461|NEO1|protein_coding|CODING|ENST00000261908|4|1),INTRON(MODIFIER||||1461|NEO1|protein_coding|CODING|ENST00000339362|5|1),SPLICE_SITE_ACCEPTOR(HIGH||||1408|NEO1|protein_coding|CODING|ENST00000560262|5|1),SPLICE_SITE_ACCEPTOR(HIGH||||1450|NEO1|protein_coding|CODING|ENST00000558964|5|1),SPLICE_SITE_ACCEPTOR(HIGH||||1461|NEO1|protein_coding|CODING|ENST00000261908|5|1),SPLICE_SITE_ACCEPTOR(HIGH||||1461|NEO1|protein_coding|CODING|ENST00000339362|6|1),UPSTREAM(MODIFIER||101||1130|NEO1|protein_coding|CODING|ENST00000560328||1) 2,13, 15 99646107 rs60530833 A AG . . RS=60530833;RSPOS=99646107;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000120500011e000200;WGT=1;VC=DIV;SLO;NSF;REF;ASP;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0009183,0.9991];COMMON=1;EFF=EXON(MODIFIER|||||SYNM|processed_transcript|CODING|ENST00000558420|1|1),EXON(MODIFIER|||||SYNM|processed_transcript|CODING|ENST00000561306|1|1),EXON(MODIFIER|||||SYNM|processed_transcript|CODING|ENST00000561323|1|1),INTRON(MODIFIER||||1252|SYNM|protein_coding|CODING|ENST00000328642|1|1),INTRON(MODIFIER||||1564|SYNM|protein_coding|CODING|ENST00000336292|1|1),INTRON(MODIFIER||||967|SYNM|protein_coding|CODING|ENST00000560674|1|1),SPLICE_SITE_ACCEPTOR(HIGH||||1252|SYNM|protein_coding|CODING|ENST00000328642|2|1),SPLICE_SITE_ACCEPTOR(HIGH||||1564|SYNM|protein_coding|CODING|ENST00000336292|2|1),SPLICE_SITE_DONOR(HIGH||||1252|SYNM|protein_coding|CODING|ENST00000328642|1|1),SPLICE_SITE_DONOR(HIGH||||1564|SYNM|protein_coding|CODING|ENST00000336292|1|1),UPSTREAM(MODIFIER||78|||RP11-654A16.3|antisense|NON_CODING|ENST00000559468||1) 73, 16 138772 rs57321480 A AG . . RS=57321480;RSPOS=138772;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000120100011e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||2921||293|MPG|protein_coding|CODING|ENST00000356432||1),DOWNSTREAM(MODIFIER||2932||298|MPG|protein_coding|CODING|ENST00000219431||1),DOWNSTREAM(MODIFIER||2934||281|MPG|protein_coding|CODING|ENST00000397817||1),DOWNSTREAM(MODIFIER||3090||250|MPG|protein_coding|CODING|ENST00000436333||1),DOWNSTREAM(MODIFIER||4016|||NPRL3|processed_transcript|CODING|ENST00000464069||1),DOWNSTREAM(MODIFIER||4484|||NPRL3|processed_transcript|CODING|ENST00000473674||1),EXON(MODIFIER|||||NPRL3|processed_transcript|CODING|ENST00000405960|13|1),EXON(MODIFIER|||||NPRL3|processed_transcript|CODING|ENST00000428323|11|1),EXON(MODIFIER|||||NPRL3|retained_intron|CODING|ENST00000463178|1|1),FRAME_SHIFT(HIGH||-/C|-310?|389|NPRL3|protein_coding|CODING|ENST00000399951|11|1),FRAME_SHIFT(HIGH||-/C|-489?|568|NPRL3|protein_coding|CODING|ENST00000399953|12|1),UPSTREAM(MODIFIER||1856|||Z69720.2|antisense|NON_CODING|ENST00000601483||1),UTR_3_PRIME(MODIFIER|||||NPRL3|nonsense_mediated_decay|CODING|ENST00000399957|10|1),UTR_3_PRIME(MODIFIER|||||NPRL3|nonsense_mediated_decay|CODING|ENST00000445810|11|1) 97,29, 16 2059621 rs11366527 GC G . . RS=11366527;RSPOS=2059622;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05010000120110011e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.01515,0.9848];COMMON=1;EFF=EXON(MODIFIER|||||ZNF598|retained_intron|CODING|ENST00000562988|1|1),EXON(MODIFIER|||||ZNF598|retained_intron|CODING|ENST00000564824|1|1),EXON(MODIFIER|||||ZNF598|retained_intron|CODING|ENST00000565396|1|1),FRAME_SHIFT(HIGH||-/-|-42|904|ZNF598|protein_coding|CODING|ENST00000431526|3|1),UPSTREAM(MODIFIER||305||127|NPW|protein_coding|CODING|ENST00000567649||1),UPSTREAM(MODIFIER||3560|||RN7SL219P|misc_RNA|NON_CODING|ENST00000582872||1),UTR_5_PRIME(MODIFIER||||849|ZNF598|protein_coding|CODING|ENST00000562103|1|1),UTR_5_PRIME(MODIFIER||||849|ZNF598|protein_coding|CODING|ENST00000563630|1|1) 68,6, 16 3602227 rs56070390 AG A . . RS=56070390;RSPOS=3602228;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05030000120100011e000200;WGT=1;VC=DIV;S3D;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=EXON(MODIFIER|||||NLRC3|polymorphic_pseudogene|CODING|ENST00000603507|8|1),EXON(MODIFIER|||||NLRC3|processed_transcript|CODING|ENST00000419350|11|1),EXON(MODIFIER|||||NLRC3|processed_transcript|CODING|ENST00000603128|10|1),EXON(MODIFIER|||||NLRC3|processed_transcript|CODING|ENST00000604347|3|1),INTRON(MODIFIER||||1036|NLRC3|protein_coding|CODING|ENST00000359128|10|1),INTRON(MODIFIER||||1065|NLRC3|protein_coding|CODING|ENST00000301749|9|1),INTRON(MODIFIER||||1111|NLRC3|protein_coding|CODING|ENST00000448023|8|1),SPLICE_SITE_ACCEPTOR(HIGH||||1036|NLRC3|protein_coding|CODING|ENST00000359128|11|1),SPLICE_SITE_ACCEPTOR(HIGH||||1065|NLRC3|protein_coding|CODING|ENST00000301749|10|1),SPLICE_SITE_ACCEPTOR(HIGH||||1111|NLRC3|protein_coding|CODING|ENST00000448023|9|1),SPLICE_SITE_DONOR(HIGH||||1036|NLRC3|protein_coding|CODING|ENST00000359128|10|1),SPLICE_SITE_DONOR(HIGH||||1065|NLRC3|protein_coding|CODING|ENST00000301749|9|1),SPLICE_SITE_DONOR(HIGH||||1111|NLRC3|protein_coding|CODING|ENST00000448023|8|1) 98,29, 16 67876823 rs34213159 AC A . . RS=34213159;RSPOS=67876824;dbSNPBuildID=126;SSR=0;SAO=0;VP=0x050000081201000002000200;WGT=1;VC=DIV;NSF;REF;INT;OTHERKG;EFF=FRAME_SHIFT(HIGH||-/-|-123|314|THAP11|protein_coding|CODING|ENST00000303596|1|1),INTRON(MODIFIER||||47|CENPT|protein_coding|CODING|ENST00000565114|1|1),INTRON(MODIFIER||||561|CENPT|protein_coding|CODING|ENST00000562787|1|1),INTRON(MODIFIER||||5|CENPT|protein_coding|CODING|ENST00000567985|1|1),INTRON(MODIFIER||||63|CENPT|protein_coding|CODING|ENST00000561593|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000564144|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000564346|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000565132|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000565385|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000567482|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000568652|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000568765|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000569019|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000569094|1|1),UPSTREAM(MODIFIER||3811||127|NUTF2|protein_coding|CODING|ENST00000219169||1),UPSTREAM(MODIFIER||4002|||NUTF2|retained_intron|CODING|ENST00000568390||1),UPSTREAM(MODIFIER||4014||106|NUTF2|protein_coding|CODING|ENST00000567105||1),UPSTREAM(MODIFIER||4014|||NUTF2|retained_intron|CODING|ENST00000568233||1),UPSTREAM(MODIFIER||4240||127|NUTF2|protein_coding|CODING|ENST00000569436||1),UPSTREAM(MODIFIER||4290||127|NUTF2|protein_coding|CODING|ENST00000568396||1),UPSTREAM(MODIFIER||4421|||NUTF2|retained_intron|CODING|ENST00000570026||1),UPSTREAM(MODIFIER||971|||CENPT|processed_transcript|CODING|ENST00000565436||1) 31,2,10, 16 67876823 rs377516180 ACAG A . . RS=377516180;RSPOS=67876824;RV;dbSNPBuildID=138;SSR=0;SAO=0;VP=0x050000080001000002000200;WGT=1;VC=DIV;INT;OTHERKG;EFF=CODON_DELETION(MODERATE||cag/-|Q123-|314|THAP11|protein_coding|CODING|ENST00000303596|1|1),INTRON(MODIFIER||||47|CENPT|protein_coding|CODING|ENST00000565114|1|1),INTRON(MODIFIER||||561|CENPT|protein_coding|CODING|ENST00000562787|1|1),INTRON(MODIFIER||||5|CENPT|protein_coding|CODING|ENST00000567985|1|1),INTRON(MODIFIER||||63|CENPT|protein_coding|CODING|ENST00000561593|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000564144|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000564346|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000565132|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000565385|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000567482|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000568652|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000568765|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000569019|1|1),INTRON(MODIFIER|||||CENPT|processed_transcript|CODING|ENST00000569094|1|1),UPSTREAM(MODIFIER||3811||127|NUTF2|protein_coding|CODING|ENST00000219169||1),UPSTREAM(MODIFIER||4002|||NUTF2|retained_intron|CODING|ENST00000568390||1),UPSTREAM(MODIFIER||4014||106|NUTF2|protein_coding|CODING|ENST00000567105||1),UPSTREAM(MODIFIER||4014|||NUTF2|retained_intron|CODING|ENST00000568233||1),UPSTREAM(MODIFIER||4240||127|NUTF2|protein_coding|CODING|ENST00000569436||1),UPSTREAM(MODIFIER||4290||127|NUTF2|protein_coding|CODING|ENST00000568396||1),UPSTREAM(MODIFIER||4421|||NUTF2|retained_intron|CODING|ENST00000570026||1),UPSTREAM(MODIFIER||971|||CENPT|processed_transcript|CODING|ENST00000565436||1) 31,2,10, 16 76311602 rs59314262 G GT . . RS=59314262;RSPOS=76311602;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=EXON(MODIFIER|||||CNTNAP4|processed_transcript|CODING|ENST00000469589|1|1),EXON(MODIFIER|||||CNTNAP4|processed_transcript|CODING|ENST00000469667|1|1),INTRON(MODIFIER||||1259|CNTNAP4|protein_coding|CODING|ENST00000377504|1|1),INTRON(MODIFIER||||1307|CNTNAP4|protein_coding|CODING|ENST00000307431|1|1),SPLICE_SITE_ACCEPTOR(HIGH||||1259|CNTNAP4|protein_coding|CODING|ENST00000377504|2|1),SPLICE_SITE_ACCEPTOR(HIGH||||1307|CNTNAP4|protein_coding|CODING|ENST00000307431|2|1),SPLICE_SITE_DONOR(HIGH||||1259|CNTNAP4|protein_coding|CODING|ENST00000377504|1|1),SPLICE_SITE_DONOR(HIGH||||1307|CNTNAP4|protein_coding|CODING|ENST00000307431|1|1) 97,29, 16 88717386 rs8053867 T C,G . . RS=8053867;RSPOS=88717386;dbSNPBuildID=116;SSR=0;SAO=0;VP=0x05010000080104051e000100;WGT=1;VC=SNV;SLO;NSM;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.003673,0.9963,.];COMMON=1;EFF=DOWNSTREAM(MODIFIER||1376|||MVD|retained_intron|CODING|ENST00000562981||1),DOWNSTREAM(MODIFIER||1376|||MVD|retained_intron|CODING|ENST00000562981||2),DOWNSTREAM(MODIFIER||1532|||MVD|retained_intron|CODING|ENST00000561895||1),DOWNSTREAM(MODIFIER||1532|||MVD|retained_intron|CODING|ENST00000561895||2),DOWNSTREAM(MODIFIER||4407||270|MVD|protein_coding|CODING|ENST00000569177||1),DOWNSTREAM(MODIFIER||4407||270|MVD|protein_coding|CODING|ENST00000569177||2),DOWNSTREAM(MODIFIER||4679|||MVD|nonsense_mediated_decay|CODING|ENST00000567064||1),DOWNSTREAM(MODIFIER||4679|||MVD|nonsense_mediated_decay|CODING|ENST00000567064||2),DOWNSTREAM(MODIFIER||4685|||MVD|nonsense_mediated_decay|CODING|ENST00000568133||1),DOWNSTREAM(MODIFIER||4685|||MVD|nonsense_mediated_decay|CODING|ENST00000568133||2),DOWNSTREAM(MODIFIER||4856|||MVD|retained_intron|CODING|ENST00000563785||1),DOWNSTREAM(MODIFIER||4856|||MVD|retained_intron|CODING|ENST00000563785||2),DOWNSTREAM(MODIFIER||957||400|MVD|protein_coding|CODING|ENST00000301012||1),DOWNSTREAM(MODIFIER||957||400|MVD|protein_coding|CODING|ENST00000301012||2),DOWNSTREAM(MODIFIER||957|||MVD|retained_intron|CODING|ENST00000565149||1),DOWNSTREAM(MODIFIER||957|||MVD|retained_intron|CODING|ENST00000565149||2),EXON(MODIFIER|||||CYBA|processed_transcript|CODING|ENST00000561972|1|1),EXON(MODIFIER|||||CYBA|processed_transcript|CODING|ENST00000561972|1|2),EXON(MODIFIER|||||CYBA|retained_intron|CODING|ENST00000562209|1|1),EXON(MODIFIER|||||CYBA|retained_intron|CODING|ENST00000562209|1|2),EXON(MODIFIER|||||CYBA|retained_intron|CODING|ENST00000563526|1|1),EXON(MODIFIER|||||CYBA|retained_intron|CODING|ENST00000563526|1|2),EXON(MODIFIER|||||CYBA|retained_intron|CODING|ENST00000566534|1|1),EXON(MODIFIER|||||CYBA|retained_intron|CODING|ENST00000566534|1|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaC|E12D|128|CYBA|protein_coding|CODING|ENST00000569359|1|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaC|E12D|144|CYBA|protein_coding|CODING|ENST00000568278|1|2|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaC|E12D|195|CYBA|protein_coding|CODING|ENST00000261623|1|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gaA/gaC|E12D|210|CYBA|protein_coding|CODING|ENST00000567174|1|2),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E12|128|CYBA|protein_coding|CODING|ENST00000569359|1|1),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E12|144|CYBA|protein_coding|CODING|ENST00000568278|1|1|WARNING_TRANSCRIPT_INCOMPLETE),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E12|195|CYBA|protein_coding|CODING|ENST00000261623|1|1),SYNONYMOUS_CODING(LOW|SILENT|gaA/gaG|E12|210|CYBA|protein_coding|CODING|ENST00000567174|1|1),UPSTREAM(MODIFIER||4153||72|CYBA|protein_coding|CODING|ENST00000565588||1),UPSTREAM(MODIFIER||4153||72|CYBA|protein_coding|CODING|ENST00000565588||2),UPSTREAM(MODIFIER||664||129|CYBA|protein_coding|CODING|ENST00000566229||1),UPSTREAM(MODIFIER||664||129|CYBA|protein_coding|CODING|ENST00000566229||2) 139, 16 88872145 rs507329 T C,G . . RS=507329;RSPOS=88872145;dbSNPBuildID=83;SSR=0;SAO=0;VP=0x050300000a0104051f000100;WGT=1;VC=SNV;S3D;SLO;NSM;REF;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0.0004591,0.9995,.];COMMON=0;EFF=DOWNSTREAM(MODIFIER||3602||180|APRT|protein_coding|CODING|ENST00000378364||1),DOWNSTREAM(MODIFIER||3602||180|APRT|protein_coding|CODING|ENST00000378364||2),DOWNSTREAM(MODIFIER||3674||147|APRT|protein_coding|CODING|ENST00000567713||1),DOWNSTREAM(MODIFIER||3674||147|APRT|protein_coding|CODING|ENST00000567713||2),DOWNSTREAM(MODIFIER||3732||134|APRT|protein_coding|CODING|ENST00000426324||1),DOWNSTREAM(MODIFIER||3732||134|APRT|protein_coding|CODING|ENST00000426324||2),DOWNSTREAM(MODIFIER||3732|||APRT|nonsense_mediated_decay|CODING|ENST00000567391||1),DOWNSTREAM(MODIFIER||3732|||APRT|nonsense_mediated_decay|CODING|ENST00000567391||2),DOWNSTREAM(MODIFIER||3732|||APRT|nonsense_mediated_decay|CODING|ENST00000568319||1),DOWNSTREAM(MODIFIER||3732|||APRT|nonsense_mediated_decay|CODING|ENST00000568319||2),DOWNSTREAM(MODIFIER||3732|||APRT|retained_intron|CODING|ENST00000567057||1),DOWNSTREAM(MODIFIER||3732|||APRT|retained_intron|CODING|ENST00000567057||2),DOWNSTREAM(MODIFIER||3735||153|APRT|protein_coding|CODING|ENST00000563655||1),DOWNSTREAM(MODIFIER||3735||153|APRT|protein_coding|CODING|ENST00000563655||2),DOWNSTREAM(MODIFIER||3781||161|APRT|protein_coding|CODING|ENST00000569616||1),DOWNSTREAM(MODIFIER||3781||161|APRT|protein_coding|CODING|ENST00000569616||2),DOWNSTREAM(MODIFIER||3943|||APRT|retained_intron|CODING|ENST00000568575||1),DOWNSTREAM(MODIFIER||3943|||APRT|retained_intron|CODING|ENST00000568575||2),DOWNSTREAM(MODIFIER||3999|||APRT|retained_intron|CODING|ENST00000562464||1),DOWNSTREAM(MODIFIER||3999|||APRT|retained_intron|CODING|ENST00000562464||2),EXON(MODIFIER|||||CDT1|retained_intron|CODING|ENST00000562747|4|1),EXON(MODIFIER|||||CDT1|retained_intron|CODING|ENST00000562747|4|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C234R|546|CDT1|protein_coding|CODING|ENST00000301019|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Ggc|C234G|546|CDT1|protein_coding|CODING|ENST00000301019|5|2),UPSTREAM(MODIFIER||31||188|CDT1|protein_coding|CODING|ENST00000569140||1),UPSTREAM(MODIFIER||31||188|CDT1|protein_coding|CODING|ENST00000569140||2) 161, 17 6555546 rs56268735 C CG . . RS=56268735;RSPOS=6555546;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000120100011e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.003673,0.9963];COMMON=1;EFF=DOWNSTREAM(MODIFIER||1236|||CTC-281F24.1|antisense|NON_CODING|ENST00000576138||1),DOWNSTREAM(MODIFIER||3212|||MIR4520A|miRNA|NON_CODING|ENST00000582609||1),EXON(MODIFIER|||||AC004706.1|pseudogene|NON_CODING|ENST00000542475|1|1),FRAME_SHIFT(HIGH||-/G|-105?|164|C17orf100|protein_coding|CODING|ENST00000391428|1|1),UPSTREAM(MODIFIER||593||131|MED31|protein_coding|CODING|ENST00000225728||1),UPSTREAM(MODIFIER||593||43|MED31|protein_coding|CODING|ENST00000575197||1),UPSTREAM(MODIFIER||652|||MED31|retained_intron|CODING|ENST00000575519||1),UPSTREAM(MODIFIER||800||57|MED31|protein_coding|CODING|ENST00000574128||1) 98,29, 17 8725214 rs56322041 A AG . . RS=56322041;RSPOS=8725214;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000120100011e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=EXON(MODIFIER|||||PIK3R6|processed_transcript|CODING|ENST00000434064|16|1),FRAME_SHIFT(HIGH||-/C|-609?|753|PIK3R6|protein_coding|CODING|ENST00000311434|17|1),UTR_3_PRIME(MODIFIER|||||PIK3R6|nonsense_mediated_decay|CODING|ENST00000452122|16|1),UTR_3_PRIME(MODIFIER|||||PIK3R6|nonsense_mediated_decay|CODING|ENST00000583984|17|1) 96,25, 17 26699205 rs11340312 GA G . . RS=11340312;RSPOS=26699206;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05010002000110011e000200;WGT=1;VC=DIV;SLO;R5;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.02296,0.977];COMMON=1;EFF=FRAME_SHIFT(HIGH||-/-|-18|690|SARM1|protein_coding|CODING|ENST00000457710|1|1),INTRON(MODIFIER||||117|VTN|protein_coding|CODING|ENST00000542029|1|1),INTRON(MODIFIER||||299|TMEM199|protein_coding|CODING|ENST00000509083|5|1),INTRON(MODIFIER|||||CTB-96E2.3|processed_transcript|NON_CODING|ENST00000591482|5|1),INTRON(MODIFIER|||||SARM1|processed_transcript|CODING|ENST00000379061|2|1),UPSTREAM(MODIFIER||1363||478|VTN|protein_coding|CODING|ENST00000226218||1),UPSTREAM(MODIFIER||1833||215|VTN|protein_coding|CODING|ENST00000536498||1),UPSTREAM(MODIFIER||3248|||VTN|retained_intron|CODING|ENST00000539746||1),UPSTREAM(MODIFIER||4173||148|CTB-96E2.2|protein_coding|CODING|ENST00000555059||1),UPSTREAM(MODIFIER||4219||215|VTN|protein_coding|CODING|ENST00000438614||1) 13,2, 17 26699367 rs11437594 G GC . . RS=11437594;RSPOS=26699367;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05010002000100011e000200;WGT=1;VC=DIV;SLO;R5;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.008724,0.9913];COMMON=1;EFF=FRAME_SHIFT(HIGH||-/C|-72?|690|SARM1|protein_coding|CODING|ENST00000457710|1|1),INTRON(MODIFIER||||117|VTN|protein_coding|CODING|ENST00000542029|1|1),INTRON(MODIFIER||||299|TMEM199|protein_coding|CODING|ENST00000509083|5|1),INTRON(MODIFIER|||||CTB-96E2.3|processed_transcript|NON_CODING|ENST00000591482|5|1),INTRON(MODIFIER|||||SARM1|processed_transcript|CODING|ENST00000379061|2|1),UPSTREAM(MODIFIER||1525||478|VTN|protein_coding|CODING|ENST00000226218||1),UPSTREAM(MODIFIER||1995||215|VTN|protein_coding|CODING|ENST00000536498||1),UPSTREAM(MODIFIER||3410|||VTN|retained_intron|CODING|ENST00000539746||1),UPSTREAM(MODIFIER||4335||148|CTB-96E2.2|protein_coding|CODING|ENST00000555059||1),UPSTREAM(MODIFIER||4381||215|VTN|protein_coding|CODING|ENST00000438614||1) 73,2, 17 26727721 rs199895119 G A . . RS=199895119;RSPOS=26727721;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050000000301000002000100;WGT=1;VC=SNV;REF;SYN;OTHERKG;EFF=DOWNSTREAM(MODIFIER||2542|||SARM1|retained_intron|CODING|ENST00000003834||1),DOWNSTREAM(MODIFIER||2570|||SARM1|processed_transcript|CODING|ENST00000379061||1),DOWNSTREAM(MODIFIER||3537|||SLC46A1|processed_transcript|CODING|ENST00000578217||1),DOWNSTREAM(MODIFIER||3613|||SLC46A1|retained_intron|CODING|ENST00000582590||1),DOWNSTREAM(MODIFIER||3882||106|SARM1|protein_coding|CODING|ENST00000579593||1),DOWNSTREAM(MODIFIER||4021||249|SLC46A1|protein_coding|CODING|ENST00000584995||1),DOWNSTREAM(MODIFIER||4291||256|SARM1|protein_coding|CODING|ENST00000578128||1),DOWNSTREAM(MODIFIER||4345||127|SLC46A1|protein_coding|CODING|ENST00000584426||1),DOWNSTREAM(MODIFIER||4504|||SARM1|retained_intron|CODING|ENST00000577870||1),DOWNSTREAM(MODIFIER||4674||31|SLC46A1|protein_coding|CODING|ENST00000581516||1),DOWNSTREAM(MODIFIER||4724|||SARM1|retained_intron|CODING|ENST00000580711||1),EXON(MODIFIER|||||SLC46A1|processed_transcript|CODING|ENST00000583295|3|1),EXON(MODIFIER|||||SLC46A1|processed_transcript|CODING|ENST00000584729|4|1),EXON(MODIFIER|||||SLC46A1|retained_intron|CODING|ENST00000582345|1|1),INTRON(MODIFIER||||123|SLC46A1|protein_coding|CODING|ENST00000582735|1|1),INTRON(MODIFIER||||430|SLC46A1|protein_coding|CODING|ENST00000321666|3|1),INTRON(MODIFIER||||459|SLC46A1|protein_coding|CODING|ENST00000440501|4|1),SPLICE_SITE_ACCEPTOR(HIGH||||430|SLC46A1|protein_coding|CODING|ENST00000321666|4|1),SPLICE_SITE_ACCEPTOR(HIGH||||459|SLC46A1|protein_coding|CODING|ENST00000440501|5|1),SPLICE_SITE_DONOR(HIGH||||430|SLC46A1|protein_coding|CODING|ENST00000321666|3|1),SPLICE_SITE_DONOR(HIGH||||459|SLC46A1|protein_coding|CODING|ENST00000440501|4|1),UPSTREAM(MODIFIER||1407|||CTD-2350C19.1|antisense|NON_CODING|ENST00000583956||1),UPSTREAM(MODIFIER||4537|||CTD-2350C19.2|antisense|NON_CODING|ENST00000580714||1),UTR_3_PRIME(MODIFIER||||690|SARM1|protein_coding|CODING|ENST00000457710|9|1) rs199895119,0, 98,29, 17 26727721 rs5819844 GA G . . RS=5819844;RSPOS=26727722;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x05012800120100011e000200;WGT=1;VC=DIV;PM;PMC;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.001377,0.9986];COMMON=1;EFF=DOWNSTREAM(MODIFIER||2543|||SARM1|retained_intron|CODING|ENST00000003834||1),DOWNSTREAM(MODIFIER||2571|||SARM1|processed_transcript|CODING|ENST00000379061||1),DOWNSTREAM(MODIFIER||3536|||SLC46A1|processed_transcript|CODING|ENST00000578217||1),DOWNSTREAM(MODIFIER||3612|||SLC46A1|retained_intron|CODING|ENST00000582590||1),DOWNSTREAM(MODIFIER||3883||106|SARM1|protein_coding|CODING|ENST00000579593||1),DOWNSTREAM(MODIFIER||4020||249|SLC46A1|protein_coding|CODING|ENST00000584995||1),DOWNSTREAM(MODIFIER||4292||256|SARM1|protein_coding|CODING|ENST00000578128||1),DOWNSTREAM(MODIFIER||4344||127|SLC46A1|protein_coding|CODING|ENST00000584426||1),DOWNSTREAM(MODIFIER||4505|||SARM1|retained_intron|CODING|ENST00000577870||1),DOWNSTREAM(MODIFIER||4673||31|SLC46A1|protein_coding|CODING|ENST00000581516||1),DOWNSTREAM(MODIFIER||4725|||SARM1|retained_intron|CODING|ENST00000580711||1),EXON(MODIFIER|||||SLC46A1|processed_transcript|CODING|ENST00000583295|3|1),EXON(MODIFIER|||||SLC46A1|processed_transcript|CODING|ENST00000584729|4|1),EXON(MODIFIER|||||SLC46A1|retained_intron|CODING|ENST00000582345|1|1),FRAME_SHIFT(HIGH||-/-|-409|459|SLC46A1|protein_coding|CODING|ENST00000440501|4|1),INTRON(MODIFIER||||123|SLC46A1|protein_coding|CODING|ENST00000582735|1|1),INTRON(MODIFIER||||430|SLC46A1|protein_coding|CODING|ENST00000321666|3|1),SPLICE_SITE_ACCEPTOR(HIGH||||430|SLC46A1|protein_coding|CODING|ENST00000321666|4|1),SPLICE_SITE_DONOR(HIGH||||430|SLC46A1|protein_coding|CODING|ENST00000321666|3|1),UPSTREAM(MODIFIER||1406|||CTD-2350C19.1|antisense|NON_CODING|ENST00000583956||1),UPSTREAM(MODIFIER||4536|||CTD-2350C19.2|antisense|NON_CODING|ENST00000580714||1),UTR_3_PRIME(MODIFIER||||690|SARM1|protein_coding|CODING|ENST00000457710|9|1) 98,29, 17 37898543 rs2952142 T C,G . . RS=2952142;RSPOS=37898543;dbSNPBuildID=101;SSR=0;SAO=0;VP=0x05010040080104051e000100;WGT=1;VC=SNV;SLO;NSM;U5;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.001837,0.9982,.];COMMON=1;EFF=DOWNSTREAM(MODIFIER||3308|||GRB7|processed_transcript|CODING|ENST00000584853||1),DOWNSTREAM(MODIFIER||3308|||GRB7|processed_transcript|CODING|ENST00000584853||2),EXON(MODIFIER|||||GRB7|processed_transcript|CODING|ENST00000578702|2|1),EXON(MODIFIER|||||GRB7|processed_transcript|CODING|ENST00000578702|2|2),EXON(MODIFIER|||||GRB7|retained_intron|CODING|ENST00000485182|2|1),EXON(MODIFIER|||||GRB7|retained_intron|CODING|ENST00000485182|2|2),EXON(MODIFIER|||||GRB7|retained_intron|CODING|ENST00000584053|2|1),EXON(MODIFIER|||||GRB7|retained_intron|CODING|ENST00000584053|2|2),EXON(MODIFIER|||||GRB7|retained_intron|CODING|ENST00000584819|2|1),EXON(MODIFIER|||||GRB7|retained_intron|CODING|ENST00000584819|2|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Cgc|C20R|555|GRB7|protein_coding|CODING|ENST00000445327|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Tgc/Ggc|C20G|555|GRB7|protein_coding|CODING|ENST00000445327|2|2),START_GAINED(LOW||||117|GRB7|protein_coding|CODING|ENST00000577695|2|2),START_GAINED(LOW||||447|GRB7|protein_coding|CODING|ENST00000309185|2|2),START_GAINED(LOW||||447|GRB7|protein_coding|CODING|ENST00000394204|1|2),START_GAINED(LOW||||532|GRB7|protein_coding|CODING|ENST00000309156|2|2),START_GAINED(LOW||||532|GRB7|protein_coding|CODING|ENST00000394209|2|2),START_GAINED(LOW||||532|GRB7|protein_coding|CODING|ENST00000394211|2|2),START_GAINED(LOW|||||GRB7|nonsense_mediated_decay|CODING|ENST00000583813|2|2),UPSTREAM(MODIFIER||644|||GRB7|retained_intron|CODING|ENST00000461756||1),UPSTREAM(MODIFIER||644|||GRB7|retained_intron|CODING|ENST00000461756||2),UPSTREAM(MODIFIER||982|||GRB7|retained_intron|CODING|ENST00000473071||1),UPSTREAM(MODIFIER||982|||GRB7|retained_intron|CODING|ENST00000473071||2),UTR_5_PRIME(MODIFIER||||117|GRB7|protein_coding|CODING|ENST00000577695|2|1),UTR_5_PRIME(MODIFIER||||447|GRB7|protein_coding|CODING|ENST00000309185|2|1),UTR_5_PRIME(MODIFIER||||447|GRB7|protein_coding|CODING|ENST00000394204|1|1),UTR_5_PRIME(MODIFIER||||532|GRB7|protein_coding|CODING|ENST00000309156|2|1),UTR_5_PRIME(MODIFIER||||532|GRB7|protein_coding|CODING|ENST00000394209|2|1),UTR_5_PRIME(MODIFIER||||532|GRB7|protein_coding|CODING|ENST00000394211|2|1),UTR_5_PRIME(MODIFIER|||||GRB7|nonsense_mediated_decay|CODING|ENST00000583813|2|1) 158, 17 38978536 rs4261597 A C,G . . RS=4261597;RSPOS=38978536;dbSNPBuildID=111;SSR=0;SAO=0;VP=0x05010008080104051e000100;WGT=1;VC=SNV;SLO;NSM;INT;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.001837,0.9982,.];COMMON=1;EFF=INTRON(MODIFIER||||188|TMEM99|protein_coding|CODING|ENST00000436612|1|1),INTRON(MODIFIER||||188|TMEM99|protein_coding|CODING|ENST00000436612|1|2),INTRON(MODIFIER||||258|TMEM99|protein_coding|CODING|ENST00000301665|1|1),INTRON(MODIFIER||||258|TMEM99|protein_coding|CODING|ENST00000301665|1|2),INTRON(MODIFIER|||||TMEM99|processed_transcript|CODING|ENST00000496847|1|1),INTRON(MODIFIER|||||TMEM99|processed_transcript|CODING|ENST00000496847|1|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aCc|I101T|584|KRT10|protein_coding|CODING|ENST00000269576|1|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|aTc/aGc|I101S|584|KRT10|protein_coding|CODING|ENST00000269576|1|1) 160, 17 43192549 rs35911033 T TC . . RS=35911033;RSPOS=43192549;dbSNPBuildID=126;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.002296,0.9977];COMMON=1;EFF=DOWNSTREAM(MODIFIER||2873|||PLCD3|retained_intron|CODING|ENST00000546350||1),DOWNSTREAM(MODIFIER||3071|||PLCD3|retained_intron|CODING|ENST00000542173||1),DOWNSTREAM(MODIFIER||3189||72|PLCD3|protein_coding|CODING|ENST00000538988||1),EXON(MODIFIER|||||PLCD3|processed_transcript|CODING|ENST00000540511|10|1),EXON(MODIFIER|||||PLCD3|processed_transcript|CODING|ENST00000545702|2|1),EXON(MODIFIER|||||PLCD3|retained_intron|CODING|ENST00000544333|1|1),FRAME_SHIFT(HIGH||-/G|-541?|788|PLCD3|protein_coding|CODING|ENST00000322765|10|1),UPSTREAM(MODIFIER||1634||110|PLCD3|protein_coding|CODING|ENST00000539433||1),UPSTREAM(MODIFIER||54|||PLCD3|processed_transcript|CODING|ENST00000543623||1),UTR_3_PRIME(MODIFIER|||||PLCD3|nonsense_mediated_decay|CODING|ENST00000412978|3|1) 97,19, 17 43364293 rs56405343 C CG . . RS=56405343;RSPOS=43364293;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0009183,0.9991];COMMON=1;EFF=EXON(MODIFIER|||||MAP3K14|processed_transcript|NON_CODING|ENST00000587332|5|1),INTRON(MODIFIER|||||MAP3K14|processed_transcript|NON_CODING|ENST00000344686|5|1),INTRON(MODIFIER|||||MAP3K14|processed_transcript|NON_CODING|ENST00000376926|1|1),SPLICE_SITE_ACCEPTOR(HIGH|||||MAP3K14|processed_transcript|NON_CODING|ENST00000344686|6|1),SPLICE_SITE_ACCEPTOR(HIGH|||||MAP3K14|processed_transcript|NON_CODING|ENST00000376926|2|1),SPLICE_SITE_DONOR(HIGH|||||MAP3K14|processed_transcript|NON_CODING|ENST00000344686|5|1),SPLICE_SITE_DONOR(HIGH|||||MAP3K14|processed_transcript|NON_CODING|ENST00000376926|1|1) 98,29, 17 56056604 rs369163670 TTGC T . . RS=369163670;RSPOS=56056605;dbSNPBuildID=138;SSR=0;SAO=0;VP=0x050000000001000002000200;WGT=1;VC=DIV;OTHERKG;EFF=CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||cagcaa/caa|QQ166Q|339|VEZF1|protein_coding|CODING|ENST00000258963|4|1|WARNING_TRANSCRIPT_NO_START_CODON),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||cagcaa/caa|QQ339Q|512|VEZF1|protein_coding|CODING|ENST00000584396|5|1),CODON_CHANGE_PLUS_CODON_DELETION(MODERATE||cagcaa/caa|QQ348Q|521|VEZF1|protein_coding|CODING|ENST00000581208|5|1),DOWNSTREAM(MODIFIER||3666||15|VEZF1|protein_coding|CODING|ENST00000583932||1) 4,22, 17 61660889 rs66502552 CG C . . RS=66502552;RSPOS=61660890;dbSNPBuildID=130;SSR=0;SAO=0;VP=0x05030000120100010e000200;WGT=1;VC=DIV;S3D;SLO;NSF;REF;GNO;KGPilot123;KGPROD;OTHERKG;EFF=EXON(MODIFIER|||||DCAF7|processed_transcript|CODING|ENST00000577702|5|1),EXON(MODIFIER|||||DCAF7|processed_transcript|CODING|ENST00000582103|5|1),EXON(MODIFIER|||||DCAF7|processed_transcript|CODING|ENST00000585252|4|1),INTRON(MODIFIER||||142|DCAF7|protein_coding|CODING|ENST00000415273|1|1),INTRON(MODIFIER||||165|DCAF7|protein_coding|CODING|ENST00000431926|4|1),INTRON(MODIFIER||||342|DCAF7|protein_coding|CODING|ENST00000310827|5|1),SPLICE_SITE_ACCEPTOR(HIGH||||342|DCAF7|protein_coding|CODING|ENST00000310827|6|1),SPLICE_SITE_DONOR(HIGH||||342|DCAF7|protein_coding|CODING|ENST00000310827|5|1) 95,29,1, 18 14183646 rs62085004 C G,T . . RS=62085004;RSPOS=14183646;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x050000080001000002000100;WGT=1;VC=SNV;INT;OTHERKG;EFF=INTRON(MODIFIER|||||ANKRD20A5P|processed_transcript|NON_CODING|ENST00000581181|1|1),INTRON(MODIFIER|||||ANKRD20A5P|processed_transcript|NON_CODING|ENST00000581181|1|2),INTRON(MODIFIER|||||ANKRD20A5P|processed_transcript|NON_CODING|ENST00000581363|1|1),INTRON(MODIFIER|||||ANKRD20A5P|processed_transcript|NON_CODING|ENST00000581363|1|2),INTRON(MODIFIER|||||ANKRD20A5P|processed_transcript|NON_CODING|ENST00000581935|1|1),INTRON(MODIFIER|||||ANKRD20A5P|processed_transcript|NON_CODING|ENST00000581935|1|2),INTRON(MODIFIER|||||ANKRD20A5P|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000399814|1|1),INTRON(MODIFIER|||||ANKRD20A5P|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000399814|1|2),INTRON(MODIFIER|||||ANKRD20A5P|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000431648|1|1),INTRON(MODIFIER|||||ANKRD20A5P|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000431648|1|2),SPLICE_SITE_ACCEPTOR(HIGH|||||ANKRD20A5P|processed_transcript|NON_CODING|ENST00000581363|2|1),SPLICE_SITE_ACCEPTOR(HIGH|||||ANKRD20A5P|processed_transcript|NON_CODING|ENST00000581363|2|2),SPLICE_SITE_ACCEPTOR(HIGH|||||ANKRD20A5P|processed_transcript|NON_CODING|ENST00000581935|2|1),SPLICE_SITE_ACCEPTOR(HIGH|||||ANKRD20A5P|processed_transcript|NON_CODING|ENST00000581935|2|2),SPLICE_SITE_ACCEPTOR(HIGH|||||ANKRD20A5P|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000431648|2|1),SPLICE_SITE_ACCEPTOR(HIGH|||||ANKRD20A5P|transcribed_unprocessed_pseudogene|NON_CODING|ENST00000431648|2|2) 27, 18 19100758 rs200728627 A T . . RS=200728627;RSPOS=19100758;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050000000a01000002000100;WGT=1;VC=SNV;NSM;REF;OTHERKG;EFF=DOWNSTREAM(MODIFIER||58||188|GREB1L|protein_coding|CODING|ENST00000580384||1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D1752V|1814|GREB1L|protein_coding|CODING|ENST00000269218|31|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D1861V|1923|GREB1L|protein_coding|CODING|ENST00000424526|32|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAt/gTt|D1861V|1923|GREB1L|protein_coding|CODING|ENST00000580732|32|1),UTR_3_PRIME(MODIFIER||||742|GREB1L|protein_coding|CODING|ENST00000400483|31|1) rs200728627,0, 77,2, 18 19100758 rs34960489 A ATCT . . RS=34960489;RSPOS=19100758;dbSNPBuildID=126;SSR=0;SAO=0;VP=0x05000000000110001e000200;WGT=1;VC=DIV;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.01469,0.9853];COMMON=1;EFF=CODON_INSERTION(MODERATE||gat/gaTCTt|D1752DL|1814|GREB1L|protein_coding|CODING|ENST00000269218|31|1),CODON_INSERTION(MODERATE||gat/gaTCTt|D1861DL|1923|GREB1L|protein_coding|CODING|ENST00000424526|32|1),CODON_INSERTION(MODERATE||gat/gaTCTt|D1861DL|1923|GREB1L|protein_coding|CODING|ENST00000580732|32|1),DOWNSTREAM(MODIFIER||59||188|GREB1L|protein_coding|CODING|ENST00000580384||1),UTR_3_PRIME(MODIFIER||||742|GREB1L|protein_coding|CODING|ENST00000400483|31|1) 77,2, 18 30804756 rs113589354 CGA C . . RS=113589354;RSPOS=30804759;dbSNPBuildID=132;SSR=0;SAO=0;VP=0x050100001201000102000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;OTHERKG;EFF=FRAME_SHIFT(HIGH||-/-|-147|364|CCDC178|protein_coding|CODING|ENST00000581524|4|1|WARNING_TRANSCRIPT_NO_START_CODON),FRAME_SHIFT(HIGH||-/-|-600|817|CCDC178|protein_coding|CODING|ENST00000402325|15|1),FRAME_SHIFT(HIGH||-/-|-600|829|CCDC178|protein_coding|CODING|ENST00000300227|17|1),FRAME_SHIFT(HIGH||-/-|-600|849|CCDC178|protein_coding|CODING|ENST00000579947|17|1),FRAME_SHIFT(HIGH||-/-|-600|867|CCDC178|protein_coding|CODING|ENST00000383096|17|1),FRAME_SHIFT(HIGH||-/-|-600|867|CCDC178|protein_coding|CODING|ENST00000403303|16|1),FRAME_SHIFT(HIGH||-/-|-600|891|CCDC178|protein_coding|CODING|ENST00000406524|15|1),FRAME_SHIFT(HIGH||-/-|-600|891|CCDC178|protein_coding|CODING|ENST00000583930|16|1),INTRON(MODIFIER||||187|CCDC178|protein_coding|CODING|ENST00000579916|5|1) 160, 18 33779821 rs646424 C A,T . . RS=646424;RSPOS=33779821;dbSNPBuildID=83;SSR=0;SAO=0;VP=0x050100000b0105051e000100;WGT=1;VC=SNV;SLO;NSM;REF;SYN;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.004591,0.9954,.];COMMON=1;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Cgg/Tgg|R159W|888|MOCOS|protein_coding|CODING|ENST00000261326|4|2),SYNONYMOUS_CODING(LOW|SILENT|Cgg/Agg|R159|888|MOCOS|protein_coding|CODING|ENST00000261326|4|1) 160, 18 61326628 rs11370831 A AT . . RS=11370831;RSPOS=61326628;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05010000000500011e000200;WGT=1;VC=DIV;SLO;ASP;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.007346,0.9927];COMMON=1;EFF=INTRON(MODIFIER||||338|SERPINB3|protein_coding|CODING|ENST00000332821|4|1),INTRON(MODIFIER||||390|SERPINB3|protein_coding|CODING|ENST00000283752|4|1),INTRON(MODIFIER|||||SERPINB11|processed_transcript|CODING|ENST00000489748|2|1),SPLICE_SITE_DONOR(HIGH||||338|SERPINB3|protein_coding|CODING|ENST00000332821|4|1),SPLICE_SITE_DONOR(HIGH||||390|SERPINB3|protein_coding|CODING|ENST00000283752|4|1) 34,3,30, 18 74090957 rs56087742 CG C . . RS=56087742;RSPOS=74090958;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000000110011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.01561,0.9844];COMMON=1;EFF=DOWNSTREAM(MODIFIER||728|||RP11-504I13.3|antisense|NON_CODING|ENST00000583287||1),EXON(MODIFIER|||||ZNF516|processed_transcript|CODING|ENST00000524431|4|1),EXON(MODIFIER|||||ZNF516|processed_transcript|CODING|ENST00000529449|1|1),FRAME_SHIFT(HIGH||-/-|-1037|1163|ZNF516|protein_coding|CODING|ENST00000443185|5|1),UPSTREAM(MODIFIER||90||24|ZNF516|protein_coding|CODING|ENST00000542818||1) 86,1,29, 19 1094004 rs12459404 G A,T . . RS=12459404;RSPOS=1094004;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05030000080104051f000100;WGT=1;VC=SNV;S3D;SLO;NSM;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0.002296,0.9977,.];COMMON=1;EFF=EXON(MODIFIER|||||POLR2E|retained_intron|CODING|ENST00000586817|1|1),EXON(MODIFIER|||||POLR2E|retained_intron|CODING|ENST00000586817|1|2),EXON(MODIFIER|||||POLR2E|retained_intron|CODING|ENST00000591709|2|1),EXON(MODIFIER|||||POLR2E|retained_intron|CODING|ENST00000591709|2|2),EXON(MODIFIER|||||POLR2E|retained_intron|CODING|ENST00000592597|2|1),EXON(MODIFIER|||||POLR2E|retained_intron|CODING|ENST00000592597|2|2),INTRON(MODIFIER|||||POLR2E|nonsense_mediated_decay|CODING|ENST00000589737|1|1),INTRON(MODIFIER|||||POLR2E|nonsense_mediated_decay|CODING|ENST00000589737|1|2),INTRON(MODIFIER|||||POLR2E|nonsense_mediated_decay|CODING|ENST00000591767|1|1),INTRON(MODIFIER|||||POLR2E|nonsense_mediated_decay|CODING|ENST00000591767|1|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tAt|S44Y|210|POLR2E|protein_coding|CODING|ENST00000215587|2|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tAt|S44Y|210|POLR2E|protein_coding|CODING|ENST00000586746|2|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S44F|210|POLR2E|protein_coding|CODING|ENST00000215587|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCt/tTt|S44F|210|POLR2E|protein_coding|CODING|ENST00000586746|2|1),UPSTREAM(MODIFIER||1659|||POLR2E|processed_transcript|CODING|ENST00000585838||1),UPSTREAM(MODIFIER||1659|||POLR2E|processed_transcript|CODING|ENST00000585838||2),UPSTREAM(MODIFIER||4075|||POLR2E|retained_intron|CODING|ENST00000586215||1),UPSTREAM(MODIFIER||4075|||POLR2E|retained_intron|CODING|ENST00000586215||2) 2,157, 19 2340154 rs5826760 G GC . . RS=5826760;RSPOS=2340154;dbSNPBuildID=114;SSR=0;SAO=0;VP=0x05010000120100011e000200;WGT=1;VC=DIV;SLO;NSF;REF;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0004591,0.9995];COMMON=0;EFF=DOWNSTREAM(MODIFIER||1630|||SPPL2B|processed_transcript|NON_CODING|ENST00000585725||1),DOWNSTREAM(MODIFIER||2221|||SPPL2B|retained_intron|NON_CODING|ENST00000587851||1),DOWNSTREAM(MODIFIER||2674|||SPPL2B|processed_transcript|NON_CODING|ENST00000586332||1),DOWNSTREAM(MODIFIER||279|||SPPL2B|processed_transcript|NON_CODING|ENST00000593243||1),EXON(MODIFIER|||||SPPL2B|processed_transcript|NON_CODING|ENST00000382189|7|1),EXON(MODIFIER|||||SPPL2B|processed_transcript|NON_CODING|ENST00000586377|7|1),EXON(MODIFIER|||||SPPL2B|processed_transcript|NON_CODING|ENST00000590295|7|1),EXON(MODIFIER|||||SPPL2B|processed_transcript|NON_CODING|ENST00000590982|7|1),EXON(MODIFIER|||||SPPL2B|processed_transcript|NON_CODING|ENST00000592738|7|1),EXON(MODIFIER|||||SPPL2B|processed_transcript|NON_CODING|ENST00000592845|7|1),EXON(MODIFIER|||||SPPL2B|retained_intron|NON_CODING|ENST00000590902|2|1),EXON(MODIFIER|||||SPPL2B|retained_intron|NON_CODING|ENST00000591959|4|1),EXON(MODIFIER|||||SPPL2B|retained_intron|NON_CODING|ENST00000593198|8|1),INTRON(MODIFIER|||||SPPL2B|processed_transcript|NON_CODING|ENST00000452401|7|1),SPLICE_SITE_ACCEPTOR(HIGH|||||SPPL2B|processed_transcript|NON_CODING|ENST00000452401|8|1),SPLICE_SITE_DONOR(HIGH|||||SPPL2B|processed_transcript|NON_CODING|ENST00000452401|7|1),UPSTREAM(MODIFIER||2565|||SPPL2B|retained_intron|NON_CODING|ENST00000589515||1) 95,25,1, 19 15730498 rs55848814 G GC . . RS=55848814;RSPOS=15730498;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05030000120500011e000200;WGT=1;VC=DIV;S3D;SLO;NSF;REF;ASP;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0009183,0.9991];COMMON=0;EFF=DOWNSTREAM(MODIFIER||891|||CYP4F8|retained_intron|NON_CODING|ENST00000590209||1),EXON(MODIFIER|||||CYP4F8|processed_transcript|NON_CODING|ENST00000443973|4|1),EXON(MODIFIER|||||CYP4F8|processed_transcript|NON_CODING|ENST00000589019|5|1),EXON(MODIFIER|||||CYP4F8|processed_transcript|NON_CODING|ENST00000592615|5|1),EXON(MODIFIER|||||CYP4F8|retained_intron|NON_CODING|ENST00000589787|2|1),INTRON(MODIFIER|||||CYP4F8|processed_transcript|NON_CODING|ENST00000325723|2|1),INTRON(MODIFIER|||||CYP4F8|processed_transcript|NON_CODING|ENST00000441682|5|1),SPLICE_SITE_ACCEPTOR(HIGH|||||CYP4F8|processed_transcript|NON_CODING|ENST00000441682|6|1),SPLICE_SITE_DONOR(HIGH|||||CYP4F8|processed_transcript|NON_CODING|ENST00000441682|5|1),UPSTREAM(MODIFIER||1987|||CYP4F8|retained_intron|NON_CODING|ENST00000587680||1),UPSTREAM(MODIFIER||3125|||CYP4F8|retained_intron|NON_CODING|ENST00000589927||1),UPSTREAM(MODIFIER||3863|||CYP4F8|retained_intron|NON_CODING|ENST00000585349||1) 151, 19 36214632 rs11373774 A AG . . RS=11373774;RSPOS=36214632;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||2202||582|KMT2B|protein_coding|CODING|ENST00000341701||1),DOWNSTREAM(MODIFIER||2202|||KMT2B|processed_transcript|NON_CODING|ENST00000606995||1),EXON(MODIFIER|||||KMT2B|processed_transcript|NON_CODING|ENST00000607650|8|1),FRAME_SHIFT(HIGH||-/G|-1020?|2715|KMT2B|protein_coding|CODING|ENST00000222270|8|1),INTRON(MODIFIER||||2715|KMT2B|protein_coding|CODING|ENST00000420124|7|1),SPLICE_SITE_ACCEPTOR(HIGH||||2715|KMT2B|protein_coding|CODING|ENST00000420124|8|1) 100,27, 19 41123093 rs201314196 A G . . RS=201314196;RSPOS=41123093;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050200000a01000402000100;WGT=1;VC=SNV;S3D;NSM;REF;HD;OTHERKG;EFF=DOWNSTREAM(MODIFIER||167|||LTBP4|retained_intron|CODING|ENST00000601464||1),DOWNSTREAM(MODIFIER||203|||LTBP4|retained_intron|CODING|ENST00000602251||1),DOWNSTREAM(MODIFIER||3359|||LTBP4|retained_intron|CODING|ENST00000546155||1),DOWNSTREAM(MODIFIER||3741|||LTBP4|processed_transcript|CODING|ENST00000598055||1),DOWNSTREAM(MODIFIER||4007|||LTBP4|retained_intron|CODING|ENST00000598717||1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000595183|4|1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000597603|2|1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000598677|10|1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000600509|24|1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000601209|21|1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000601560|5|1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000602240|24|1),EXON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000593614|4|1),EXON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000594266|3|1),EXON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000594457|4|1),EXON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000595767|2|1),EXON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000601570|2|1),INTRON(MODIFIER||||189|LTBP4|protein_coding|CODING|ENST00000593463|3|1),INTRON(MODIFIER||||222|LTBP4|protein_coding|CODING|ENST00000597071|4|1),INTRON(MODIFIER||||302|LTBP4|protein_coding|CODING|ENST00000599724|3|1),INTRON(MODIFIER||||671|LTBP4|protein_coding|CODING|ENST00000601032|6|1),INTRON(MODIFIER||||898|LTBP4|protein_coding|CODING|ENST00000545697|22|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000318809|1|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000594448|2|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000595118|2|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000595665|2|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000596351|1|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000597816|1|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000600499|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q1011R|1556|LTBP4|protein_coding|CODING|ENST00000396819|21|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q1041R|1586|LTBP4|protein_coding|CODING|ENST00000204005|24|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q1078R|1623|LTBP4|protein_coding|CODING|ENST00000308370|24|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cAg/cGg|Q132R|185|LTBP4|protein_coding|CODING|ENST00000243562|3|1) rs201314196,0, 101,26, 19 41123093 rs59030801 A AG . . RS=59030801;RSPOS=41123093;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05030000120100010e000200;WGT=1;VC=DIV;S3D;SLO;NSF;REF;GNO;KGPilot123;KGPROD;OTHERKG;EFF=DOWNSTREAM(MODIFIER||168|||LTBP4|retained_intron|CODING|ENST00000601464||1),DOWNSTREAM(MODIFIER||204|||LTBP4|retained_intron|CODING|ENST00000602251||1),DOWNSTREAM(MODIFIER||3360|||LTBP4|retained_intron|CODING|ENST00000546155||1),DOWNSTREAM(MODIFIER||3742|||LTBP4|processed_transcript|CODING|ENST00000598055||1),DOWNSTREAM(MODIFIER||4008|||LTBP4|retained_intron|CODING|ENST00000598717||1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000595183|4|1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000597603|2|1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000598677|10|1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000600509|24|1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000601209|21|1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000601560|5|1),EXON(MODIFIER|||||LTBP4|processed_transcript|CODING|ENST00000602240|24|1),EXON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000593614|4|1),EXON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000594266|3|1),EXON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000594457|4|1),EXON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000595767|2|1),EXON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000601570|2|1),FRAME_SHIFT(HIGH||-/G|-1011?|1556|LTBP4|protein_coding|CODING|ENST00000396819|21|1),FRAME_SHIFT(HIGH||-/G|-1041?|1586|LTBP4|protein_coding|CODING|ENST00000204005|24|1),FRAME_SHIFT(HIGH||-/G|-1078?|1623|LTBP4|protein_coding|CODING|ENST00000308370|24|1),FRAME_SHIFT(HIGH||-/G|-132?|185|LTBP4|protein_coding|CODING|ENST00000243562|3|1),INTRON(MODIFIER||||189|LTBP4|protein_coding|CODING|ENST00000593463|3|1),INTRON(MODIFIER||||222|LTBP4|protein_coding|CODING|ENST00000597071|4|1),INTRON(MODIFIER||||302|LTBP4|protein_coding|CODING|ENST00000599724|3|1),INTRON(MODIFIER||||671|LTBP4|protein_coding|CODING|ENST00000601032|6|1),INTRON(MODIFIER||||898|LTBP4|protein_coding|CODING|ENST00000545697|22|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000318809|1|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000594448|2|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000595118|2|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000595665|2|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000596351|1|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000597816|1|1),INTRON(MODIFIER|||||LTBP4|retained_intron|CODING|ENST00000600499|4|1) 101,26, 19 41811730 rs12745 T C,G . . RS=12745;RSPOS=41811730;dbSNPBuildID=52;SSR=0;SAO=0;VP=0x05010000030104051f000100;WGT=1;VC=SNV;SLO;REF;SYN;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0.004591,0.9954,.];COMMON=1;EFF=DOWNSTREAM(MODIFIER||4179|||HNRNPUL1|processed_transcript|CODING|ENST00000600493||1),DOWNSTREAM(MODIFIER||4179|||HNRNPUL1|processed_transcript|CODING|ENST00000600493||2),EXON(MODIFIER|||||HNRNPUL1|retained_intron|CODING|ENST00000595806|3|1),EXON(MODIFIER|||||HNRNPUL1|retained_intron|CODING|ENST00000595806|3|2),INTRON(MODIFIER||||119|TGFB1|protein_coding|CODING|ENST00000598758|2|1),INTRON(MODIFIER||||119|TGFB1|protein_coding|CODING|ENST00000598758|2|2),INTRON(MODIFIER||||640|HNRNPUL1|protein_coding|CODING|ENST00000599614|11|1),INTRON(MODIFIER||||640|HNRNPUL1|protein_coding|CODING|ENST00000599614|11|2),INTRON(MODIFIER||||804|HNRNPUL1|protein_coding|CODING|ENST00000602130|13|1),INTRON(MODIFIER||||804|HNRNPUL1|protein_coding|CODING|ENST00000602130|13|2),SPLICE_SITE_ACCEPTOR(HIGH||||804|HNRNPUL1|protein_coding|CODING|ENST00000602130|14|1),SPLICE_SITE_ACCEPTOR(HIGH||||804|HNRNPUL1|protein_coding|CODING|ENST00000602130|14|2),SYNONYMOUS_CODING(LOW|SILENT|acT/acC|T700|752|HNRNPUL1|protein_coding|CODING|ENST00000378215|13|1),SYNONYMOUS_CODING(LOW|SILENT|acT/acC|T704|756|HNRNPUL1|protein_coding|CODING|ENST00000593587|14|1),SYNONYMOUS_CODING(LOW|SILENT|acT/acC|T704|756|HNRNPUL1|protein_coding|CODING|ENST00000595018|14|1),SYNONYMOUS_CODING(LOW|SILENT|acT/acC|T714|766|HNRNPUL1|protein_coding|CODING|ENST00000352456|14|1),SYNONYMOUS_CODING(LOW|SILENT|acT/acC|T715|767|HNRNPUL1|protein_coding|CODING|ENST00000263367|14|1),SYNONYMOUS_CODING(LOW|SILENT|acT/acC|T804|856|HNRNPUL1|protein_coding|CODING|ENST00000392006|14|1),SYNONYMOUS_CODING(LOW|SILENT|acT/acG|T700|752|HNRNPUL1|protein_coding|CODING|ENST00000378215|13|2),SYNONYMOUS_CODING(LOW|SILENT|acT/acG|T704|756|HNRNPUL1|protein_coding|CODING|ENST00000593587|14|2),SYNONYMOUS_CODING(LOW|SILENT|acT/acG|T704|756|HNRNPUL1|protein_coding|CODING|ENST00000595018|14|2),SYNONYMOUS_CODING(LOW|SILENT|acT/acG|T714|766|HNRNPUL1|protein_coding|CODING|ENST00000352456|14|2),SYNONYMOUS_CODING(LOW|SILENT|acT/acG|T715|767|HNRNPUL1|protein_coding|CODING|ENST00000263367|14|2),SYNONYMOUS_CODING(LOW|SILENT|acT/acG|T804|856|HNRNPUL1|protein_coding|CODING|ENST00000392006|14|2),UPSTREAM(MODIFIER||4364||343|CCDC97|protein_coding|CODING|ENST00000269967||1),UPSTREAM(MODIFIER||4364||343|CCDC97|protein_coding|CODING|ENST00000269967||2),UPSTREAM(MODIFIER||4976||15|CCDC97|protein_coding|CODING|ENST00000596882||1),UPSTREAM(MODIFIER||4976||15|CCDC97|protein_coding|CODING|ENST00000596882||2),UTR_3_PRIME(MODIFIER|||||HNRNPUL1|nonsense_mediated_decay|CODING|ENST00000595196|14|1),UTR_3_PRIME(MODIFIER|||||HNRNPUL1|nonsense_mediated_decay|CODING|ENST00000595196|14|2) 156,1, 19 51835892 rs11402251 T TG . . RS=11402251;RSPOS=51835892;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05010000000100010e000200;WGT=1;VC=DIV;SLO;GNO;KGPilot123;KGPROD;OTHERKG;EFF=DOWNSTREAM(MODIFIER||2285||336|IGLON5|protein_coding|CODING|ENST00000270642||1),FRAME_SHIFT(HIGH||-/C|-859?|867|VSIG10L|protein_coding|CODING|ENST00000335624|10|1),UTR_3_PRIME(MODIFIER|||||VSIG10L|nonsense_mediated_decay|CODING|ENST00000600663|7|1) 98,29, 19 55286781 rs62121640 G A . . RS=62121640;RSPOS=55286781;dbSNPBuildID=129;SSR=1;SAO=0;VP=0x050200000a01000002000140;WGT=1;VC=SNV;S3D;NSM;REF;OTHERKG;EFF=INTRON(MODIFIER||||348|KIR2DL3|protein_coding|CODING|ENST00000434419|5|1),INTRON(MODIFIER||||397|KIR2DL4|protein_coding|CODING|ENST00000396284|1|1),INTRON(MODIFIER||||427|KIR3DL1|protein_coding|CODING|ENST00000541392|1|1),INTRON(MODIFIER||||444|KIR3DL1|protein_coding|CODING|ENST00000538269|1|1),INTRON(MODIFIER||||455|KIR3DL1|protein_coding|CODING|ENST00000402254|1|1),INTRON(MODIFIER|||||CTB-61M7.1|processed_transcript|NON_CODING|ENST00000400864|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G179R|348|KIR2DL1|protein_coding|CODING|ENST00000336077|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gga/Aga|G179R|374|KIR2DL1|protein_coding|CODING|ENST00000291633|4|1) rs62121640,0,rs201609645,0.001, 28, 19 55324674 rs148484482 C CA . . RS=148484482;RSPOS=55324674;dbSNPBuildID=134;SSR=0;SAO=0;VP=0x050000000001000002000200;WGT=1;VC=DIV;OTHERKG;EFF=EXON(MODIFIER|||||KIR2DL4|processed_transcript|CODING|ENST00000463062|5|1),FRAME_SHIFT(HIGH||-/A|-266?|397|KIR2DL4|protein_coding|CODING|ENST00000396284|6|1),FRAME_SHIFT(HIGH||-/A|-266?|397|KIR2DL4|protein_coding|CODING|ENST00000396289|6|1),FRAME_SHIFT(HIGH||-/A|-268?|273|KIR2DL4|protein_coding|CODING|ENST00000359085|6|1),INTRON(MODIFIER||||230|KIR2DL4|protein_coding|CODING|ENST00000396293|3|1),INTRON(MODIFIER||||247|KIR2DL4|protein_coding|CODING|ENST00000346587|4|1),INTRON(MODIFIER||||325|KIR2DL4|protein_coding|CODING|ENST00000357494|4|1),INTRON(MODIFIER||||342|KIR2DL4|protein_coding|CODING|ENST00000345540|5|1),INTRON(MODIFIER||||427|KIR3DL1|protein_coding|CODING|ENST00000541392|1|1),INTRON(MODIFIER||||444|KIR3DL1|protein_coding|CODING|ENST00000538269|1|1),INTRON(MODIFIER||||455|KIR3DL1|protein_coding|CODING|ENST00000402254|1|1),INTRON(MODIFIER|||||KIR2DL4|processed_transcript|CODING|ENST00000486965|4|1),UPSTREAM(MODIFIER||3248||444|KIR3DL1|protein_coding|CODING|ENST00000391728||1),UPSTREAM(MODIFIER||3267||427|KIR3DL1|protein_coding|CODING|ENST00000326542||1),UPSTREAM(MODIFIER||3270||349|KIR3DL1|protein_coding|CODING|ENST00000358178||1) 8,2,28, 19 55330036 rs643861 G A,C . . RS=643861;RSPOS=55330036;dbSNPBuildID=83;SSR=0;SAO=0;VP=0x050200000a01070002000100;WGT=1;VC=SNV;S3D;NSM;REF;VLD;G5A;G5;OTHERKG;EFF=DOWNSTREAM(MODIFIER||4064||273|KIR2DL4|protein_coding|CODING|ENST00000359085||1),DOWNSTREAM(MODIFIER||4064||273|KIR2DL4|protein_coding|CODING|ENST00000359085||2),DOWNSTREAM(MODIFIER||4064||325|KIR2DL4|protein_coding|CODING|ENST00000357494||1),DOWNSTREAM(MODIFIER||4064||325|KIR2DL4|protein_coding|CODING|ENST00000357494||2),DOWNSTREAM(MODIFIER||4064||342|KIR2DL4|protein_coding|CODING|ENST00000345540||1),DOWNSTREAM(MODIFIER||4064||342|KIR2DL4|protein_coding|CODING|ENST00000345540||2),DOWNSTREAM(MODIFIER||4064||397|KIR2DL4|protein_coding|CODING|ENST00000396289||1),DOWNSTREAM(MODIFIER||4064||397|KIR2DL4|protein_coding|CODING|ENST00000396289||2),DOWNSTREAM(MODIFIER||4064|||KIR2DL4|processed_transcript|CODING|ENST00000463062||1),DOWNSTREAM(MODIFIER||4064|||KIR2DL4|processed_transcript|CODING|ENST00000463062||2),DOWNSTREAM(MODIFIER||4064|||KIR2DL4|processed_transcript|CODING|ENST00000486965||1),DOWNSTREAM(MODIFIER||4064|||KIR2DL4|processed_transcript|CODING|ENST00000486965||2),DOWNSTREAM(MODIFIER||4068||397|KIR2DL4|protein_coding|CODING|ENST00000396284||1),DOWNSTREAM(MODIFIER||4068||397|KIR2DL4|protein_coding|CODING|ENST00000396284||2),DOWNSTREAM(MODIFIER||4188||247|KIR2DL4|protein_coding|CODING|ENST00000346587||1),DOWNSTREAM(MODIFIER||4188||247|KIR2DL4|protein_coding|CODING|ENST00000346587||2),DOWNSTREAM(MODIFIER||4459||230|KIR2DL4|protein_coding|CODING|ENST00000396293||1),DOWNSTREAM(MODIFIER||4459||230|KIR2DL4|protein_coding|CODING|ENST00000396293||2),INTRON(MODIFIER||||349|KIR3DL1|protein_coding|CODING|ENST00000358178|2|1),INTRON(MODIFIER||||349|KIR3DL1|protein_coding|CODING|ENST00000358178|2|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V113M|427|KIR3DL1|protein_coding|CODING|ENST00000326542|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V113M|427|KIR3DL1|protein_coding|CODING|ENST00000541392|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V113M|444|KIR3DL1|protein_coding|CODING|ENST00000391728|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V113M|444|KIR3DL1|protein_coding|CODING|ENST00000538269|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Atg|V113M|455|KIR3DL1|protein_coding|CODING|ENST00000402254|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V113L|427|KIR3DL1|protein_coding|CODING|ENST00000326542|3|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V113L|427|KIR3DL1|protein_coding|CODING|ENST00000541392|3|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V113L|444|KIR3DL1|protein_coding|CODING|ENST00000391728|3|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V113L|444|KIR3DL1|protein_coding|CODING|ENST00000538269|3|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gtg/Ctg|V113L|455|KIR3DL1|protein_coding|CODING|ENST00000402254|3|2) 32, 19 56024519 rs671542 T G,C,A . . RS=671542;RSPOS=56024519;RV;dbSNPBuildID=83;SSR=0;SAO=0;VP=0x050100000a0115051f000100;WGT=1;VC=SNV;SLO;NSM;REF;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;CAF=[0.02938,.,0.9706,.];COMMON=1;EFF=NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cAg|L976Q|1573|SSC5D|protein_coding|CODING|ENST00000389623|13|3),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cCg|L976P|1573|SSC5D|protein_coding|CODING|ENST00000389623|13|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|cTg/cGg|L976R|1573|SSC5D|protein_coding|CODING|ENST00000389623|13|1) 125, 19 58718360 rs373818336 A G . . RS=373818336;RSPOS=58718360;dbSNPBuildID=138;SSR=0;SAO=0;VP=0x050000000001000002000100;WGT=1;VC=SNV;OTHERKG;EFF=DOWNSTREAM(MODIFIER||128||133|ZNF274|protein_coding|CODING|ENST00000594839||1),DOWNSTREAM(MODIFIER||4525|||ZNF274|processed_transcript|CODING|ENST00000601995||1),EXON(MODIFIER|||||ZNF274|processed_transcript|CODING|ENST00000595772|3|1),EXON(MODIFIER|||||ZNF274|processed_transcript|CODING|ENST00000597818|5|1),EXON(MODIFIER|||||ZNF274|processed_transcript|CODING|ENST00000599438|2|1),EXON(MODIFIER|||||ZNF274|processed_transcript|CODING|ENST00000601777|4|1),EXON(MODIFIER|||||ZNF274|retained_intron|CODING|ENST00000598143|5|1),EXON(MODIFIER|||||ZNF274|retained_intron|CODING|ENST00000599081|5|1),EXON(MODIFIER|||||ZNF274|retained_intron|CODING|ENST00000601156|2|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E145G|620|ZNF274|protein_coding|CODING|ENST00000345813|4|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E177G|652|ZNF274|protein_coding|CODING|ENST00000326804|5|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|gAg/gGg|E72G|547|ZNF274|protein_coding|CODING|ENST00000424679|2|1),UPSTREAM(MODIFIER||1104|||ZNF274|retained_intron|CODING|ENST00000595146||1) 120,29, 19 58718360 rs59557917 A AG . . RS=59557917;RSPOS=58718360;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.001377,0.9986];COMMON=0;EFF=DOWNSTREAM(MODIFIER||129||133|ZNF274|protein_coding|CODING|ENST00000594839||1),DOWNSTREAM(MODIFIER||4526|||ZNF274|processed_transcript|CODING|ENST00000601995||1),EXON(MODIFIER|||||ZNF274|processed_transcript|CODING|ENST00000595772|3|1),EXON(MODIFIER|||||ZNF274|processed_transcript|CODING|ENST00000597818|5|1),EXON(MODIFIER|||||ZNF274|processed_transcript|CODING|ENST00000599438|2|1),EXON(MODIFIER|||||ZNF274|processed_transcript|CODING|ENST00000601777|4|1),EXON(MODIFIER|||||ZNF274|retained_intron|CODING|ENST00000598143|5|1),EXON(MODIFIER|||||ZNF274|retained_intron|CODING|ENST00000599081|5|1),EXON(MODIFIER|||||ZNF274|retained_intron|CODING|ENST00000601156|2|1),FRAME_SHIFT(HIGH||-/G|-145?|620|ZNF274|protein_coding|CODING|ENST00000345813|4|1),FRAME_SHIFT(HIGH||-/G|-177?|652|ZNF274|protein_coding|CODING|ENST00000326804|5|1),FRAME_SHIFT(HIGH||-/G|-72?|547|ZNF274|protein_coding|CODING|ENST00000424679|2|1),UPSTREAM(MODIFIER||1103|||ZNF274|retained_intron|CODING|ENST00000595146||1) 120,29, 20 34240740 rs201181145 A AGGGCCG . . RS=201181145;RSPOS=34240740;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x05000008000110001c000200;WGT=1;VC=DIV;INT;KGPhase1;KGPilot123;KGPROD;CAF=[0.9605,0.03949];COMMON=1;EFF=CODON_CHANGE_PLUS_CODON_INSERTION(MODERATE||cct/cCGGCCCct|P835PAP|932|RBM12|protein_coding|CODING|ENST00000359646|2|1),CODON_CHANGE_PLUS_CODON_INSERTION(MODERATE||cct/cCGGCCCct|P835PAP|932|RBM12|protein_coding|CODING|ENST00000374104|3|1),CODON_CHANGE_PLUS_CODON_INSERTION(MODERATE||cct/cCGGCCCct|P835PAP|932|RBM12|protein_coding|CODING|ENST00000374114|3|1),DOWNSTREAM(MODIFIER||1631||290|RBM12|protein_coding|CODING|ENST00000424458||1),DOWNSTREAM(MODIFIER||2074||142|RBM12|protein_coding|CODING|ENST00000431148||1),DOWNSTREAM(MODIFIER||2102||133|RBM12|protein_coding|CODING|ENST00000435161||1),INTRON(MODIFIER||||135|CPNE1|protein_coding|CODING|ENST00000414711|3|1),INTRON(MODIFIER||||136|CPNE1|protein_coding|CODING|ENST00000458038|2|1),INTRON(MODIFIER||||151|CPNE1|protein_coding|CODING|ENST00000437100|3|1),INTRON(MODIFIER||||173|CPNE1|protein_coding|CODING|ENST00000440240|2|1),INTRON(MODIFIER||||200|CPNE1|protein_coding|CODING|ENST00000434795|2|1),INTRON(MODIFIER||||208|CPNE1|protein_coding|CODING|ENST00000420363|2|1),INTRON(MODIFIER||||212|CPNE1|protein_coding|CODING|ENST00000416778|1|1),INTRON(MODIFIER||||230|CPNE1|protein_coding|CODING|ENST00000439806|1|1),INTRON(MODIFIER||||303|CPNE1|protein_coding|CODING|ENST00000414664|1|1),INTRON(MODIFIER||||304|CPNE1|protein_coding|CODING|ENST00000412056|1|1),INTRON(MODIFIER||||385|CPNE1|protein_coding|CODING|ENST00000430570|1|1),INTRON(MODIFIER||||481|CPNE1|protein_coding|CODING|ENST00000397442|1|1),INTRON(MODIFIER||||532|CPNE1|protein_coding|CODING|ENST00000437340|1|1),INTRON(MODIFIER||||537|CPNE1|protein_coding|CODING|ENST00000317619|3|1),INTRON(MODIFIER||||537|CPNE1|protein_coding|CODING|ENST00000352393|3|1),INTRON(MODIFIER||||537|CPNE1|protein_coding|CODING|ENST00000397443|1|1),INTRON(MODIFIER||||537|CPNE1|protein_coding|CODING|ENST00000397445|2|1),INTRON(MODIFIER||||537|CPNE1|protein_coding|CODING|ENST00000397446|2|1),INTRON(MODIFIER||||542|CPNE1|protein_coding|CODING|ENST00000317677|1|1),INTRON(MODIFIER||||65|CPNE1|protein_coding|CODING|ENST00000435747|1|1),INTRON(MODIFIER|||||CPNE1|nonsense_mediated_decay|CODING|ENST00000401607|1|1),INTRON(MODIFIER|||||CPNE1|nonsense_mediated_decay|CODING|ENST00000439669|1|1),INTRON(MODIFIER|||||CPNE1|retained_intron|CODING|ENST00000483359|1|1),INTRON(MODIFIER|||||RP1-309K20.6|nonsense_mediated_decay|NON_CODING|ENST00000441563|5|1),INTRON(MODIFIER|||||RP1-309K20.6|nonsense_mediated_decay|NON_CODING|ENST00000454607|5|1),INTRON(MODIFIER|||||RP1-309K20.6|nonsense_mediated_decay|NON_CODING|ENST00000541176|6|1) 14,2, 20 57572675 rs163785 A C,G . . RS=163785;RSPOS=57572675;dbSNPBuildID=79;SSR=0;SAO=0;VP=0x05030000040104051e000100;WGT=1;VC=SNV;S3D;SLO;NSN;VLD;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0004591,.,0.9995];COMMON=0;EFF=DOWNSTREAM(MODIFIER||2487||599|NELFCD|protein_coding|CODING|ENST00000602795||1),DOWNSTREAM(MODIFIER||2487||599|NELFCD|protein_coding|CODING|ENST00000602795||2),DOWNSTREAM(MODIFIER||2487|||NELFCD|nonsense_mediated_decay|CODING|ENST00000460601||1),DOWNSTREAM(MODIFIER||2487|||NELFCD|nonsense_mediated_decay|CODING|ENST00000460601||2),DOWNSTREAM(MODIFIER||2487|||NELFCD|processed_transcript|CODING|ENST00000479207||1),DOWNSTREAM(MODIFIER||2487|||NELFCD|processed_transcript|CODING|ENST00000479207||2),DOWNSTREAM(MODIFIER||2487|||NELFCD|retained_intron|CODING|ENST00000474543||1),DOWNSTREAM(MODIFIER||2487|||NELFCD|retained_intron|CODING|ENST00000474543||2),DOWNSTREAM(MODIFIER||2487|||NELFCD|retained_intron|CODING|ENST00000477741||1),DOWNSTREAM(MODIFIER||2487|||NELFCD|retained_intron|CODING|ENST00000477741||2),DOWNSTREAM(MODIFIER||2487|||NELFCD|retained_intron|CODING|ENST00000478389||1),DOWNSTREAM(MODIFIER||2487|||NELFCD|retained_intron|CODING|ENST00000478389||2),DOWNSTREAM(MODIFIER||2487|||NELFCD|retained_intron|CODING|ENST00000486263||1),DOWNSTREAM(MODIFIER||2487|||NELFCD|retained_intron|CODING|ENST00000486263||2),DOWNSTREAM(MODIFIER||2489||590|NELFCD|protein_coding|CODING|ENST00000344018||1),DOWNSTREAM(MODIFIER||2489||590|NELFCD|protein_coding|CODING|ENST00000344018||2),DOWNSTREAM(MODIFIER||4076|||NELFCD|processed_transcript|CODING|ENST00000497935||1),DOWNSTREAM(MODIFIER||4076|||NELFCD|processed_transcript|CODING|ENST00000497935||2),EXON(MODIFIER|||||CTSZ|retained_intron|CODING|ENST00000488395|3|1),EXON(MODIFIER|||||CTSZ|retained_intron|CODING|ENST00000488395|3|2),EXON(MODIFIER|||||CTSZ|retained_intron|CODING|ENST00000503833|4|1),EXON(MODIFIER|||||CTSZ|retained_intron|CODING|ENST00000503833|4|2),STOP_GAINED(HIGH|NONSENSE|taT/taG|Y207*|303|CTSZ|protein_coding|CODING|ENST00000217131|4|1),SYNONYMOUS_CODING(LOW|SILENT|taT/taC|Y207|303|CTSZ|protein_coding|CODING|ENST00000217131|4|2) 159,1, 21 34948684 rs34377180 G GA . . RS=34377180;RSPOS=34948684;dbSNPBuildID=126;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0,1];COMMON=0;EFF=DOWNSTREAM(MODIFIER||1157||508|DONSON|protein_coding|CODING|ENST00000453626||1),DOWNSTREAM(MODIFIER||1182|||DONSON|nonsense_mediated_decay|CODING|ENST00000457359||1),DOWNSTREAM(MODIFIER||1526||566|DONSON|protein_coding|CODING|ENST00000303071||1),DOWNSTREAM(MODIFIER||1538|||DONSON|nonsense_mediated_decay|CODING|ENST00000417871||1),DOWNSTREAM(MODIFIER||1545|||DONSON|retained_intron|CODING|ENST00000460557||1),DOWNSTREAM(MODIFIER||1563|||DONSON|nonsense_mediated_decay|CODING|ENST00000442660||1),DOWNSTREAM(MODIFIER||1563|||DONSON|nonsense_mediated_decay|CODING|ENST00000444517||1),DOWNSTREAM(MODIFIER||1822||536|DONSON|protein_coding|CODING|ENST00000437395||1),DOWNSTREAM(MODIFIER||1863||495|DONSON|protein_coding|CODING|ENST00000432378||1),DOWNSTREAM(MODIFIER||3145||233|DONSON|protein_coding|CODING|ENST00000440810||1),DOWNSTREAM(MODIFIER||4796|||DONSON|retained_intron|CODING|ENST00000462566||1),EXON(MODIFIER|||||SON|processed_transcript|CODING|ENST00000473102|6|1),EXON(MODIFIER|||||SON|retained_intron|CODING|ENST00000465834|5|1),EXON(MODIFIER|||||SON|retained_intron|CODING|ENST00000477419|4|1),FRAME_SHIFT(HIGH||-/A|-2412?|2426|SON|protein_coding|CODING|ENST00000356577|12|1),FRAME_SHIFT(HIGH||-/A|-440?|454|SON|protein_coding|CODING|ENST00000381692|11|1),INTRON(MODIFIER||||1453|SON|protein_coding|CODING|ENST00000436227|9|1),INTRON(MODIFIER||||552|DONSON|protein_coding|CODING|ENST00000303113|10|1),INTRON(MODIFIER|||||DONSON|nonsense_mediated_decay|CODING|ENST00000439593|1|1),INTRON(MODIFIER|||||SON|nonsense_mediated_decay|CODING|ENST00000455528|12|1),INTRON(MODIFIER|||||SON|processed_transcript|CODING|ENST00000467616|6|1),INTRON(MODIFIER|||||SON|processed_transcript|CODING|ENST00000470533|5|1),INTRON(MODIFIER|||||SON|processed_transcript|CODING|ENST00000484294|5|1),INTRON(MODIFIER|||||SON|retained_intron|CODING|ENST00000478183|4|1),INTRON(MODIFIER|||||SON|retained_intron|CODING|ENST00000491794|3|1),UPSTREAM(MODIFIER||1040||11|AP000304.1|protein_coding|CODING|ENST00000595468||1),UTR_3_PRIME(MODIFIER||||2325|SON|protein_coding|CODING|ENST00000290239|13|1),UTR_3_PRIME(MODIFIER|||||SON|nonsense_mediated_decay|CODING|ENST00000457208|7|1) 106,30, 22 19189003 rs11386977 A AC . . RS=11386977;RSPOS=19189003;dbSNPBuildID=120;SSR=0;SAO=0;VP=0x05010000000100010e000200;WGT=1;VC=DIV;SLO;GNO;KGPilot123;KGPROD;OTHERKG;EFF=EXON(MODIFIER|||||CLTCL1|nonsense_mediated_decay|CODING|ENST00000505027|23|1),EXON(MODIFIER|||||CLTCL1|processed_transcript|CODING|ENST00000442042|2|1),EXON(MODIFIER|||||CLTCL1|processed_transcript|CODING|ENST00000536806|2|1),EXON(MODIFIER|||||CLTCL1|retained_intron|CODING|ENST00000413132|23|1),FRAME_SHIFT(HIGH||-/G|-1201?|1583|CLTCL1|protein_coding|CODING|ENST00000353891|23|1),FRAME_SHIFT(HIGH||-/G|-1201?|1640|CLTCL1|protein_coding|CODING|ENST00000263200|23|1),INTRON(MODIFIER||||1640|CLTCL1|protein_coding|CODING|ENST00000427926|23|1),SPLICE_SITE_ACCEPTOR(HIGH||||1640|CLTCL1|protein_coding|CODING|ENST00000427926|24|1) 96,29, 22 25011077 rs375956048 C G,T . . RS=375956048;RSPOS=25011077;dbSNPBuildID=138;SSR=0;SAO=0;VP=0x050200000a01000002000100;WGT=1;VC=SNV;S3D;NSM;REF;OTHERKG;EFF=DOWNSTREAM(MODIFIER||17||115|GGT1|protein_coding|CODING|ENST00000451366||1),DOWNSTREAM(MODIFIER||17||115|GGT1|protein_coding|CODING|ENST00000451366||2),DOWNSTREAM(MODIFIER||206||96|GGT1|protein_coding|CODING|ENST00000455483||1),DOWNSTREAM(MODIFIER||206||96|GGT1|protein_coding|CODING|ENST00000455483||2),DOWNSTREAM(MODIFIER||259||79|GGT1|protein_coding|CODING|ENST00000412898||1),DOWNSTREAM(MODIFIER||259||79|GGT1|protein_coding|CODING|ENST00000412898||2),DOWNSTREAM(MODIFIER||296||66|GGT1|protein_coding|CODING|ENST00000445029||1),DOWNSTREAM(MODIFIER||296||66|GGT1|protein_coding|CODING|ENST00000445029||2),DOWNSTREAM(MODIFIER||32||110|GGT1|protein_coding|CODING|ENST00000432867||1),DOWNSTREAM(MODIFIER||32||110|GGT1|protein_coding|CODING|ENST00000432867||2),DOWNSTREAM(MODIFIER||3918||36|GGT1|protein_coding|CODING|ENST00000438643||1),DOWNSTREAM(MODIFIER||3918||36|GGT1|protein_coding|CODING|ENST00000438643||2),DOWNSTREAM(MODIFIER||3939||29|GGT1|protein_coding|CODING|ENST00000456869||1),DOWNSTREAM(MODIFIER||3939||29|GGT1|protein_coding|CODING|ENST00000456869||2),DOWNSTREAM(MODIFIER||39||107|GGT1|protein_coding|CODING|ENST00000430289||1),DOWNSTREAM(MODIFIER||39||107|GGT1|protein_coding|CODING|ENST00000430289||2),DOWNSTREAM(MODIFIER||3||119|GGT1|protein_coding|CODING|ENST00000411974||1),DOWNSTREAM(MODIFIER||3||119|GGT1|protein_coding|CODING|ENST00000411974||2),EXON(MODIFIER|||||GGT1|nonsense_mediated_decay|CODING|ENST00000425895|6|1),EXON(MODIFIER|||||GGT1|nonsense_mediated_decay|CODING|ENST00000425895|6|2),EXON(MODIFIER|||||GGT1|processed_transcript|CODING|ENST00000474191|3|1),EXON(MODIFIER|||||GGT1|processed_transcript|CODING|ENST00000474191|3|2),EXON(MODIFIER|||||GGT1|retained_intron|CODING|ENST00000487766|2|1),EXON(MODIFIER|||||GGT1|retained_intron|CODING|ENST00000487766|2|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S122W|125|GGT1|protein_coding|CODING|ENST00000428855|7|1|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S122W|125|GGT1|protein_coding|CODING|ENST00000447416|6|1|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S122W|126|GGT1|protein_coding|CODING|ENST00000452551|7|1|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S122W|173|GGT1|protein_coding|CODING|ENST00000419133|7|1|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S122W|462|GGT1|protein_coding|CODING|ENST00000412658|7|1|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S122W|569|GGT1|protein_coding|CODING|ENST00000248923|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S122W|569|GGT1|protein_coding|CODING|ENST00000400380|8|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S122W|569|GGT1|protein_coding|CODING|ENST00000400382|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S122W|569|GGT1|protein_coding|CODING|ENST00000400383|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tGg|S122W|569|GGT1|protein_coding|CODING|ENST00000406383|7|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S122L|125|GGT1|protein_coding|CODING|ENST00000428855|7|2|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S122L|125|GGT1|protein_coding|CODING|ENST00000447416|6|2|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S122L|126|GGT1|protein_coding|CODING|ENST00000452551|7|2|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S122L|173|GGT1|protein_coding|CODING|ENST00000419133|7|2|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S122L|462|GGT1|protein_coding|CODING|ENST00000412658|7|2|WARNING_TRANSCRIPT_INCOMPLETE),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S122L|569|GGT1|protein_coding|CODING|ENST00000248923|7|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S122L|569|GGT1|protein_coding|CODING|ENST00000400380|8|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S122L|569|GGT1|protein_coding|CODING|ENST00000400382|7|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S122L|569|GGT1|protein_coding|CODING|ENST00000400383|7|2),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|tCg/tTg|S122L|569|GGT1|protein_coding|CODING|ENST00000406383|7|2) 25, 22 29707639 rs34777709 G GC . . RS=34777709;RSPOS=29707639;dbSNPBuildID=126;SSR=0;SAO=0;VP=0x05010080120510011e000200;WGT=1;VC=DIV;SLO;NSF;REF;U3;ASP;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.01745,0.9826];COMMON=1;EFF=DOWNSTREAM(MODIFIER||1282||115|RASL10A|protein_coding|CODING|ENST00000401450||1),DOWNSTREAM(MODIFIER||1282||203|RASL10A|protein_coding|CODING|ENST00000216101||1),DOWNSTREAM(MODIFIER||1852|||RASL10A|processed_transcript|CODING|ENST00000608559||1),DOWNSTREAM(MODIFIER||1884|||RASL10A|processed_transcript|CODING|ENST00000474590||1),DOWNSTREAM(MODIFIER||3115||142|GAS2L1|protein_coding|CODING|ENST00000428622||1),DOWNSTREAM(MODIFIER||3130||137|GAS2L1|protein_coding|CODING|ENST00000416823||1),DOWNSTREAM(MODIFIER||3851|||GAS2L1|retained_intron|CODING|ENST00000487341||1),DOWNSTREAM(MODIFIER||543|||GAS2L1|retained_intron|CODING|ENST00000491016||1),FRAME_SHIFT(HIGH||-/C|-400?|537|GAS2L1|protein_coding|CODING|ENST00000403764|6|1),FRAME_SHIFT(HIGH||-/C|-400?|537|GAS2L1|protein_coding|CODING|ENST00000407647|6|1),FRAME_SHIFT(HIGH||-/C|-400?|537|GAS2L1|protein_coding|CODING|ENST00000407854|6|1),FRAME_SHIFT(HIGH||-/C|-400?|537|GAS2L1|protein_coding|CODING|ENST00000471961|5|1),INTRON(MODIFIER||||454|GAS2L1|protein_coding|CODING|ENST00000406549|5|1),UTR_3_PRIME(MODIFIER||||329|GAS2L1|protein_coding|CODING|ENST00000360113|5|1),UTR_3_PRIME(MODIFIER||||337|GAS2L1|protein_coding|CODING|ENST00000341313|5|1) 73,4, 22 36006923 rs35171458 G GC . . RS=35171458;RSPOS=36006923;dbSNPBuildID=126;SSR=0;SAO=0;VP=0x05010008000100011e000200;WGT=1;VC=DIV;SLO;INT;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.001837,0.9982];COMMON=1;EFF=DOWNSTREAM(MODIFIER||7||105|MB|protein_coding|CODING|ENST00000447607||1),DOWNSTREAM(MODIFIER||7||105|MB|protein_coding|CODING|ENST00000451685||1),DOWNSTREAM(MODIFIER||93||76|MB|protein_coding|CODING|ENST00000419229||1),INTRON(MODIFIER||||142|MB|protein_coding|CODING|ENST00000443033|3|1),INTRON(MODIFIER||||154|MB|protein_coding|CODING|ENST00000359787|3|1),INTRON(MODIFIER||||154|MB|protein_coding|CODING|ENST00000397326|2|1),INTRON(MODIFIER||||154|MB|protein_coding|CODING|ENST00000397328|3|1),INTRON(MODIFIER||||154|MB|protein_coding|CODING|ENST00000406324|3|1),INTRON(MODIFIER||||73|MB|protein_coding|CODING|ENST00000442617|2|1),INTRON(MODIFIER||||99|MB|protein_coding|CODING|ENST00000401702|2|1),SPLICE_SITE_DONOR(HIGH||||142|MB|protein_coding|CODING|ENST00000443033|3|1),SPLICE_SITE_DONOR(HIGH||||154|MB|protein_coding|CODING|ENST00000359787|3|1),SPLICE_SITE_DONOR(HIGH||||154|MB|protein_coding|CODING|ENST00000397326|2|1),SPLICE_SITE_DONOR(HIGH||||154|MB|protein_coding|CODING|ENST00000397328|3|1),SPLICE_SITE_DONOR(HIGH||||154|MB|protein_coding|CODING|ENST00000406324|3|1),SPLICE_SITE_DONOR(HIGH||||73|MB|protein_coding|CODING|ENST00000442617|2|1),SPLICE_SITE_DONOR(HIGH||||99|MB|protein_coding|CODING|ENST00000401702|2|1) 124,2, 22 45810278 rs111381981 A C . . RS=111381981;RSPOS=45810278;dbSNPBuildID=132;SSR=0;SAO=0;VP=0x050000020001000002000100;WGT=1;VC=SNV;R5;OTHERKG;EFF=EXON(MODIFIER|||||RIBC2|retained_intron|CODING|ENST00000498265|1|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Act/Cct|T64P|377|RIBC2|protein_coding|CODING|ENST00000538017|2|1),UPSTREAM(MODIFIER||3609|||RIBC2|processed_transcript|CODING|ENST00000466226||1),UPSTREAM(MODIFIER||778||1161|SMC1B|protein_coding|CODING|ENST00000404354||1),UPSTREAM(MODIFIER||830||1235|SMC1B|protein_coding|CODING|ENST00000357450||1),UTR_5_PRIME(MODIFIER||||309|RIBC2|protein_coding|CODING|ENST00000342894|2|1) rs111381981,0, 84,2, 22 45810278 rs59404993 A AC . . RS=59404993;RSPOS=45810278;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x05010000000100011e000200;WGT=1;VC=DIV;SLO;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.0009183,0.9991];COMMON=1;EFF=EXON(MODIFIER|||||RIBC2|retained_intron|CODING|ENST00000498265|1|1),FRAME_SHIFT(HIGH||-/C|-64?|377|RIBC2|protein_coding|CODING|ENST00000538017|2|1),UPSTREAM(MODIFIER||3608|||RIBC2|processed_transcript|CODING|ENST00000466226||1),UPSTREAM(MODIFIER||779||1161|SMC1B|protein_coding|CODING|ENST00000404354||1),UPSTREAM(MODIFIER||831||1235|SMC1B|protein_coding|CODING|ENST00000357450||1),UTR_5_PRIME(MODIFIER||||309|RIBC2|protein_coding|CODING|ENST00000342894|2|1) 84,2, 22 51042513 rs140511 C CG . . RS=140511;RSPOS=51042513;RV;dbSNPBuildID=78;SSR=0;SAO=0;VP=0x05010000120500011e000200;WGT=1;VC=DIV;SLO;NSF;REF;ASP;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;CAF=[0.009183,0.9908];COMMON=1;EFF=FRAME_SHIFT(HIGH||-/G|-262?|546|MAPK8IP2|protein_coding|CODING|ENST00000442429|6|1),FRAME_SHIFT(HIGH||-/G|-262?|823|MAPK8IP2|protein_coding|CODING|ENST00000329492|6|1),INTRON(MODIFIER||||444|MAPK8IP2|protein_coding|CODING|ENST00000341339|3|1),INTRON(MODIFIER||||598|MAPK8IP2|protein_coding|CODING|ENST00000008876|1|1),UPSTREAM(MODIFIER||2630|||CHKB|processed_transcript|CODING|ENST00000463053||1),UTR_5_PRIME(MODIFIER||||558|MAPK8IP2|protein_coding|CODING|ENST00000399908|3|1),UTR_5_PRIME(MODIFIER||||558|MAPK8IP2|protein_coding|CODING|ENST00000399912|5|1) 89, X 140993698 rs201506503 G T . . RS=201506503;RSPOS=140993698;dbSNPBuildID=137;SSR=0;SAO=0;VP=0x050000000a01000002000100;WGT=1;VC=SNV;NSM;REF;OTHERKG;EFF=INTRON(MODIFIER||||209|MAGEC1|protein_coding|CODING|ENST00000406005|3|1),NON_SYNONYMOUS_CODING(MODERATE|MISSENSE|Gcc/Tcc|A170S|1142|MAGEC1|protein_coding|CODING|ENST00000285879|4|1) rs201506503,0, 15, X 153149708 rs77883713 G GC . . RS=77883713;RSPOS=153149708;dbSNPBuildID=131;SSR=0;SAO=0;VP=0x05010000120500011e000210;WGT=1;VC=DIV;SLO;NSF;REF;ASP;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;NOC;CAF=[0,1];COMMON=0;EFF=EXON(MODIFIER|||||L1CAM|processed_transcript|CODING|ENST00000484587|2|1),FRAME_SHIFT(HIGH||-/C|-12?|163|LCA10|protein_coding|CODING|ENST00000357566|3|1),FRAME_SHIFT(HIGH||-/C|-180?|331|LCA10|protein_coding|CODING|ENST00000452593|3|1|WARNING_TRANSCRIPT_NO_START_CODON),INTRON(MODIFIER||||1248|L1CAM|protein_coding|CODING|ENST00000370055|1|1),INTRON(MODIFIER||||1257|L1CAM|protein_coding|CODING|ENST00000370060|1|1),INTRON(MODIFIER||||89|L1CAM|protein_coding|CODING|ENST00000420165|1|1),INTRON(MODIFIER|||||L1CAM|retained_intron|CODING|ENST00000460553|1|1),INTRON(MODIFIER|||||L1CAM|retained_intron|CODING|ENST00000464967|1|1) 117,1, X 153151280 rs143464562 G GCC . . RS=143464562;RSPOS=153151280;dbSNPBuildID=134;SSR=0;SAO=0;VP=0x05000008120100001e000210;WGT=1;VC=DIV;NSF;REF;INT;KGPhase1;KGPilot123;KGPROD;OTHERKG;NOC;CAF=[0,1];COMMON=0;EFF=FRAME_SHIFT(HIGH||-/CC|-217?|331|LCA10|protein_coding|CODING|ENST00000452593|5|1|WARNING_TRANSCRIPT_NO_START_CODON),FRAME_SHIFT(HIGH||-/CC|-49?|163|LCA10|protein_coding|CODING|ENST00000357566|5|1),INTRON(MODIFIER||||1248|L1CAM|protein_coding|CODING|ENST00000370055|1|1),INTRON(MODIFIER||||1257|L1CAM|protein_coding|CODING|ENST00000370060|1|1),INTRON(MODIFIER||||89|L1CAM|protein_coding|CODING|ENST00000420165|1|1),INTRON(MODIFIER|||||L1CAM|processed_transcript|CODING|ENST00000484587|1|1),INTRON(MODIFIER|||||L1CAM|retained_intron|CODING|ENST00000460553|1|1),INTRON(MODIFIER|||||L1CAM|retained_intron|CODING|ENST00000464967|1|1) 55,2,3, X 153151280 rs59857608 G GC,GCC . . RS=59857608;RSPOS=153151281;dbSNPBuildID=129;SSR=0;SAO=0;VP=0x050000081201000002000200;WGT=1;VC=DIV;NSF;REF;INT;OTHERKG;CAF=[0,.,1];COMMON=0;EFF=FRAME_SHIFT(HIGH||-/CC|-217?|331|LCA10|protein_coding|CODING|ENST00000452593|5|2|WARNING_TRANSCRIPT_NO_START_CODON),FRAME_SHIFT(HIGH||-/CC|-49?|163|LCA10|protein_coding|CODING|ENST00000357566|5|2),FRAME_SHIFT(HIGH||-/C|-217?|331|LCA10|protein_coding|CODING|ENST00000452593|5|1|WARNING_TRANSCRIPT_NO_START_CODON),FRAME_SHIFT(HIGH||-/C|-49?|163|LCA10|protein_coding|CODING|ENST00000357566|5|1),INTRON(MODIFIER||||1248|L1CAM|protein_coding|CODING|ENST00000370055|1|1),INTRON(MODIFIER||||1248|L1CAM|protein_coding|CODING|ENST00000370055|1|2),INTRON(MODIFIER||||1257|L1CAM|protein_coding|CODING|ENST00000370060|1|1),INTRON(MODIFIER||||1257|L1CAM|protein_coding|CODING|ENST00000370060|1|2),INTRON(MODIFIER||||89|L1CAM|protein_coding|CODING|ENST00000420165|1|1),INTRON(MODIFIER||||89|L1CAM|protein_coding|CODING|ENST00000420165|1|2),INTRON(MODIFIER|||||L1CAM|processed_transcript|CODING|ENST00000484587|1|1),INTRON(MODIFIER|||||L1CAM|processed_transcript|CODING|ENST00000484587|1|2),INTRON(MODIFIER|||||L1CAM|retained_intron|CODING|ENST00000460553|1|1),INTRON(MODIFIER|||||L1CAM|retained_intron|CODING|ENST00000460553|1|2),INTRON(MODIFIER|||||L1CAM|retained_intron|CODING|ENST00000464967|1|1),INTRON(MODIFIER|||||L1CAM|retained_intron|CODING|ENST00000464967|1|2) 55,2,3,