Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(483): Show GTCACCACTACCTGCCCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCAC TACCTGCCCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCA TTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCCGCC CACCACTATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACTATTACTGCTGCCACCACTACCCGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	302	0.0033	490	c.513 others(507): Show c.513-1023_513-1022insTCACCACTACCTGCCCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCC CACCACCATTACTGTCACCACTACCTGCCCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTC ACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCA TTACTGTCACCACTACCCGCCCACCACTATTACTGCTGCCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACTATT ACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
CXorf51A_chrX_146809106_146819744	146812300	C C	CATATATG others(483): Show CATATATGTGTGTATATACGTATATACACATGTGTATATACGTATATACA CATGTGTATATACGTATATACACATATATGTATATATACACACATATACA CACATATATGTACACATATATATGTGTATATACATATATACACATATATA TGTGTATATACATATATACACATATATATGTGTATATACATATATACACA TATATGTACACATATATATGTGTATATACATATATACACATATATGTACA CATATATATGTGTATATACATATATACACATATATGTACACATATATATG TGTATATACATATATACACATATATGTACACATATATATGTGTATATACA TATATACACATATATGTACACATATATATGTGTATATACATATATACACA TATATGTACACATATATATGTGTATATATGTGTGTATATACATATATGTG TATATACGTATATACACATGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	195	0.0051	490	c.19 others(501): Show c.1906_*1907insATGTGTATATACGTATATACACATGTGTATATAC GTATATACACATATATGTATATACACACATATATACACATATATATGTGT ACATATATGTGTATATATGTATATACACATATATATGTGTACATATATGT GTATATATGTATATACACATATATATGTGTACATATATGTGTATATATGT ATATACACATATATATGTGTACATATATGTGTATATATGTATATACACAT ATATATGTGTACATATATGTGTATATATGTATATACACATATATATGTGT ACATATATGTGTATATATGTATATACACATATATATGTGTATATATGTAT ATACACATATATATGTGTATATATGTATATACACATATATATGTGTACAT ATATGTGTGTATATGTGTGTATATATACATATATGTGTATATACGTATAT ACACATGTGTATATACGTATATACACATGTGTATATACGTATATACACAC ATATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1805		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812300	C C	CATATATG others(483): Show CATATATGTGTGTATATACGTATATACACATGTGTATATACGTATATACA CATGTGTATATACGTATATACACATATATGTATATATACACACATATACA CACATATATGTACACATATATATGTGTATATACATATATACACATATATA TGTGTATATACATATATACACATATATATGTGTATATACATATATACACA TATATGTACACATATATATGTGTATATACATATATACACATATATGTACA CATATATATGTGTATATACATATATACACATATATGTACACATATATATG TGTATATACATATATACACATATATGTACACATATATATGTGTATATACA TATATACACATATATGTACACATATATATGTGTATATACATATATACACA TATATGTACACATATATATGTGTATATATGTGTGTATATACATATATGTG TATATACGTATATACACATGTGTATATACGTATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	199	0.0050	490	c.19 others(501): Show c.1992_*1993insATATATGTGTGTATATACGTATATACACATGTGT ATATACGTATATACACATGTGTATATACGTATATACACATATATGTATAT ATACACACATATACACACATATATGTACACATATATATGTGTATATACAT ATATACACATATATATGTGTATATACATATATACACATATATATGTGTAT ATACATATATACACATATATGTACACATATATATGTGTATATACATATAT ACACATATATGTACACATATATATGTGTATATACATATATACACATATAT GTACACATATATATGTGTATATACATATATACACATATATGTACACATAT ATATGTGTATATACATATATACACATATATGTACACATATATATGTGTAT ATACATATATACACATATATGTACACATATATATGTGTATATATGTGTGT ATATACATATATGTGTATATACGTATATACACATGTGTATATACGTATAT ACACAT	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1890		chrX	TogoVar
DFFB_chr1_3852476_3890429	3868664	A A	ACCACACC others(483): Show ACCACACCAGGCCACGCCACACCAAGCCACACCACACCAGGCCACACCAC ACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCAT ACCACACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCAC ACCACACCAAGCCACACCACACCAGGCCACACCACACCAGGCCACGCCAC ACCAAGCCACACCACACCAGGCCACACCACACCAGGCCACACCACACCAT ACCACACCACACCAGGCCACACCACACCAGGCCACACCACACCAAGCCAC ACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCAC ACCATACCACACCACACCAGGCCACACCACACCAAGCCACACCACACCAG GCCACACCACACCATACCACACCACACCAGGCCACACCACACCAGGCCAC ACCACACCACGCCACACCACACCACGCCACACCACACCAGG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	76	0.0132	490	c.510 others(505): Show c.510+619_510+620insGGCCACGCCACACCAAGCCACACCACACCA GGCCACACCACACCAGGCCACACCACACCAAGCCACACCACACCAGGCCA CACCACACCATACCACACCACACCAGGCCACACCACACCATACCACACCA CACCAGGCCACACCACACCAAGCCACACCACACCAGGCCACACCACACCA GGCCACGCCACACCAAGCCACACCACACCAGGCCACACCACACCAGGCCA CACCACACCATACCACACCACACCAGGCCACACCACACCAGGCCACACCA CACCAAGCCACACCACACCAGGCCACACCACACCATACCACACCACACCA GGCCACACCACACCATACCACACCACACCAGGCCACACCACACCAAGCCA CACCACACCAGGCCACACCACACCATACCACACCACACCAGGCCACACCA CACCAGGCCACACCACACCACGCCACACCACACCACGCCACACCACACCA GGCCACACCA	DFFB	ENSG00000169598.17	transcript	ENST00000378209.8	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AATATATA others(483): Show AATATATATATATATATATATACACATACATATACATATATACACATACA TATACATATATACACATACATATACATATATACACATACATATATATATA CATATATATATACATATATATACGTATATATATATACGTGTATATATATA TACATATATATATACGTGTGTATATATATACACATATATATATACACATA TATATATACACATATATATATACACACATATATATACACACATATATATA CACACATATATATATACACACATATATATACACACATATATACACATATA TATATACACACATATATACACATATATATATATACACATATATATACACA TATATATATATACACATATATATACACATATATATATACACATATATATA TACACATATATATATATATATATACACACACATATATATATATATATACA CACACATATATATATATATATACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0020 a0020	a0020c0020 a0020c0020	a0020c0020t0004 a0020c0020t0004	a0020c0020t0004g0180 a0020c0020t0004g0180	1	82	0.0122	490	c.730 others(509): Show c.7305+1447_7305+1448insATATATATATATGTGTGTGTATATAT ATATATATATGTGTGTGTATATATATATATATATGTGTGTGTATATATAT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT GTGTATATATATATATGTGTATATATATGTGTATATATATATATGTGTAT ATATGTGTGTATATATATATGTGTATATATGTGTGTATATATATGTGTGT ATATATATATGTGTGTATATATATGTGTGTATATATATGTGTGTATATAT ATATGTGTATATATATATGTGTATATATATATGTGTATATATATACACAC GTATATATATATGTATATATATATACACGTATATATATATACGTATATAT ATGTATATATATATGTATATATATATGTATGTGTATATATGTATATGTAT GTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTATATAT ATATATATATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DPEP1_chr16_89608642_89643433	89619407	T T	TCCCCTCC others(483): Show TCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAAGCCCCC TGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCC CCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC TGCTCCCCTCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCCTCCCCTCCCTGCCGCCCCCTGCCCCCCCTGCTCCCA CTCCCACTGCAGCTCCCTGCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	246	0.0041	490	c.-10 others(509): Show c.-107+5702_-107+5703insTCCATGCCCCCCCGCTCCCCTCCCTG CAAGCCCCCTGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCC TGCAGCCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCATGCCCCCCG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCCTCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCCTCCCCTCCCTGCCGCCCCCTGCCCCCC CTGCTCCCACTCCCACTGCAGCTCCCTGCCCCCCTGCTCCCTCCCTGCAG CCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FBXO34_chr14_55266421_55358611	55331803	T T	TATATATA others(483): Show TATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG01070.hp1 others(29): Show HG00140.hp1 HG00597.hp1 HG01070.hp1 HG01071.hp2 HG01169.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02273.hp2 HG03688.hp2 HG03834.hp2 HG04199.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp1 NA18950.hp2 NA18955.hp2 NA18979.hp1 NA18993.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19054.hp1 NA19058.hp2 NA19060.hp2 NA19083.hp1 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0192 others(29): Show a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0262 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0278 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0330 a0001c0001t0005g0274 a0001c0001t0005g0275	32	94	0.3404	490	c.-10 others(509): Show c.-10-18559_-10-18558insTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGT GGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAA ATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACC ACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATA TAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATAT ACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGT ATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATA TATATACACCACCG	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55331926	C C	CGTGGTGT others(483): Show CGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATA AAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATAC ACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTAT ATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATA TATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGG TGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAAT ATATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCAC GGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATA AAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATAC ACCACCGTGGTGTATATATAAAAATATATATATACACCACG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	318	0.0031	490	c.-10 others(509): Show c.-10-18356_-10-18355insACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACA CCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATA TATAAAAATATATATATACACCACGGTGGTGTATATATAAAAATATATAT ATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGT GTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATA TATATATACACCACGGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATATAC	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBXO34_chr14_55266421_55358611	55332023	T T	TACACCAC others(483): Show TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCG TGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAA AATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACAC CACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATAT ATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATATA TACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTG TATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATAT ATATATACACCACCGTGGTGTATATATAAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA19091.hp2 HG01109.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0206 a0001c0001t0001g0209	2	210	0.0095	490	c.-10 others(509): Show c.-10-18356_-10-18355insACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATATACACCACCGTGGTGTATATATAAAAATATATATATACA CCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATA TATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATATATAT ATACACCACCGTGGTGTATATATAAAAATATATATATACACCACCGTGGT GTATATATAAAAATATATATATACACCACCGTGGTGTATATATAAAAATA TATATATACACCACCGTGGTGTATATATAAAAATATATATATACACCACC GTGGTGTATATATAAAAATATATATATACACCACCGTGGTGTATATATAA AAATATATATACAC	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FHIT_chr3_59742277_61256452	60861204	T T	TATATATG others(483): Show TATATATGATATATATCATATATGATATATATGATATATATCATATATGA TATATATGATATATATCATATATGATATATATGATATATATCATATATGA TATATATGATATATATCATATATGATATATATGATATATATCATATATGA TATATATGATATATATCATATCATATATGATATATATCATATATATCATA TATGATATATATCATATATATCATATATGATATATATGATATATATCATA TATGATATATATGATATATATGATATATCATATCATATCATATATGATAT ATATGATATATATGATATATCATATCATATATGATATATATGATATATAT GATATATCATATCATATCATATATGATATATATGATATATATGATATATC ATATATATCATATATGATATATATGATATATATGATATATCATATATATC ATATATGATATATATGATATATATGATATATCATATCTATC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	23	0.0435	490	c.-11 others(511): Show c.-110-39194_-110-39193insGATAGATATGATATATCATATATA TCATATATATCATATATGATATATATGATATATCATATATATCATATATA TCATATATGATATATATGATATATCATATATATCATATATATCATATATG ATATGATATGATATATCATATATATCATATATATCATATATGATATGATA TATCATATATATCATATATATCATATATGATATGATATGATATATCATAT ATATCATATATATCATATATGATATATATCATATATATCATATATGATAT ATATGATATATATCATATATGATATATATGATATATATCATATATGATAT GATATATATCATATATATCATATATGATATATATCATATATATCATATAT GATATATATCATATATATCATATATGATATATATCATATATATCATATAT GATATATATCATATATATCATATATGATATATATCATATATATCATATAT GATATATATCATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435244	A A	AAGGAAGG others(483): Show AAGGAAGGAAGGAAGAGAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGA GGGAAGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAAGAAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAGGAAGGGACGGAGGGAGGGAAGAAGGGATGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGAAGGGACGGAGGGAG GGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGG ATGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAG GGAGGAAGGGACGGAGGGAGGGAGGAAAAAAGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0046 a0001c0001t0027g0046	1	81	0.0123	490	c.-16 others(511): Show c.-168+58181_-168+58182insCCCTCCCTCCTTTTTTCCTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCC TTCCTCCCTCCCTCCATCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTC CCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCTTTTT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCATCCCTTCTTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCC CTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCT TCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCC CTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCT CTCTTCCTTCCTTCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GSE1_chr16_85608322_85681200	85653220	T T	TCCTCCCC others(483): Show TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCTCCCCCCTCC TCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCCCCTCCTCCCCCCTCCT CCCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCC CCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCCCC CCCCCCTCCTCCTCCTCCCCCCCCCTCCTCCTCCTCCCCCCTCCTCCCCC CTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0220 a0001c0001t0010g0220	1	197	0.0051	490	c.427 others(507): Show c.427-1053_427-1052insCCCCTCCTCCCCCCTCCTCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCCT CCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCC CCTCCTCCCCCCTCCTCCCCCCCCTCCTCCCCCCCCTCCTCCCCCCTCCT CCCCCCCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCCC CTCCTCCTCCTCCCCCCCCCCCTCCTCCTCCTCCCCCCCCCTCCTCCTCC TCCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCC CCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCT CCTCCCCCCTCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HDAC4_chr2_239043168_239406020	239069062	G G	GGAGTCAC others(483): Show GGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGG GAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGGG AGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTGGGTGAGAGGGA GTCACGGTGCAAGCCAGCAAGCCCCACGACACTTGCTTAGTGAGAGTGAG TCACGGTGCAAGCCAGCAAGCCCCACGACACTTGCTTAGTGAGAGTGAGT CACGGTGCAAGCCAGCAAGCCCCACGACACTTGCTTGGTGAGAGGGAGTC ACGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCA CGGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCAC AGTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGTGAGTCACG GTGCAAGCCAGCAAGCCCCACTGCACTTGCTTGGTGAGAGT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	240	0.0042	490	c.275 others(507): Show c.2751-456_2751-455insACTCTCACCAAGCAAGTGCAGTGGGGCT TGCTGGCTTGCACCGTGACTCACTCTCACCAAGCAAGTGCAGTGGGGCTT GCTGGCTTGCACTGTGACTCACTCTCACCAAGCAAGTGCAGTGGGGCTTG CTGGCTTGCACCGTGACTCACTCTCACCAAGCAAGTGCAGTGGGGCTTGC TGGCTTGCACCGTGACTCCCTCTCACCAAGCAAGTGTCGTGGGGCTTGCT GGCTTGCACCGTGACTCACTCTCACTAAGCAAGTGTCGTGGGGCTTGCTG GCTTGCACCGTGACTCACTCTCACTAAGCAAGTGTCGTGGGGCTTGCTGG CTTGCACCGTGACTCCCTCTCACCCAGCAAGTGCAGTGGGGCTTGCTGGC TTGCACCGTGACTCCCTCTCACCAAGCAAGTGCAGTGGGGCTTGCTGGCT TGCACCGTGACTCCCTCTCACCAAGCAAGTGCAGTGGGGCTTGCTGGCTT GCACCGTGACTC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26			chr2	TogoVar
HDAC4_chr2_239043168_239406020	239231772	T T	TGTCCTCC others(483): Show TGTCCTCCCCGAAGCGCCCCTGTCCTCAACCGAGGCTGCTGAGCACCTGC TCCCGGATGCCTGAGGTAGGCGTCCTCCCCGAAGCGCCCCTGTCCTCAAC CGAGGCTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAGGTGTCCTCCCC GAAGCGCCCCTCTCCTCAATCGAGGCTGCTGAGCACCTGCTCCCGGATGC CTGAGGTAGGTGTCCTCCCCGAAGCGCCCCTCTCCTCAATCGAGGCTGCT GAGCACCTGCTCCCGGATGCCTGAGGTAGGCGTCCTCCCCGAAGCGCCCC TCTCCTCAACCGAGGCTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAGG CGTCCTCCCCGAAGCGCCCCTGTCCTCAACCGAGGCTGCTGAGCACCTGC TCCCGGATGCCTGAGGTAGGCGTCCTCCCCGAAGCGCCCCTGTCCTCAAC CGAGGCTGCTGAGCACCTGCTCCCGGATGCCTGAGGTAGGC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0086 a0001c0002t0020g0086	1	110	0.0091	490	c.94+ others(505): Show c.94+4820_94+4821insGCCTACCTCAGGCATCCGGGAGCAGGTGCT CAGCAGCCTCGGTTGAGGACAGGGGCGCTTCGGGGAGGACGCCTACCTCA GGCATCCGGGAGCAGGTGCTCAGCAGCCTCGGTTGAGGACAGGGGCGCTT CGGGGAGGACGCCTACCTCAGGCATCCGGGAGCAGGTGCTCAGCAGCCTC GGTTGAGGAGAGGGGCGCTTCGGGGAGGACGCCTACCTCAGGCATCCGGG AGCAGGTGCTCAGCAGCCTCGATTGAGGAGAGGGGCGCTTCGGGGAGGAC ACCTACCTCAGGCATCCGGGAGCAGGTGCTCAGCAGCCTCGATTGAGGAG AGGGGCGCTTCGGGGAGGACACCTACCTCAGGCATCCGGGAGCAGGTGCT CAGCAGCCTCGGTTGAGGACAGGGGCGCTTCGGGGAGGACGCCTACCTCA GGCATCCGGGAGCAGGTGCTCAGCAGCCTCGGTTGAGGACAGGGGCGCTT CGGGGAGGAC	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	3/26			chr2	TogoVar
HIC1_chr17_2050103_2068241	2052377	T T	TGCCTGGG others(483): Show TGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 NA19043.hp2 HG02717.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0061 a0001c0001t0012 a0001c0001t0061	a0001c0001t0012g0001 a0001c0001t0061g0002 a0001c0001t0012g0001 a0001c0001t0061g0002	2	367	0.0054	490	c.-28 others(501): Show c.-2882_-2881insGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGC AGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGG TTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCA ATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGA GACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCT GGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTT GAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGC AGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGG TTAGGG	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2725		chr17	TogoVar
IFFO2_chr1_18899280_18961676	18925956	T T	TGGTTGGA others(483): Show TGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGAT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19000.hp2 NA18984.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0138 a0001c0001t0005g0128 a0001c0001t0001g0138 a0001c0001t0005g0128	2	350	0.0057	490	c.666 others(507): Show c.666-4836_666-4835insTCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAACCAAC CAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCAACC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(483): Show ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCG TGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGT GGAACATACATGTGTGGAACCAATACATATGTGGAACTGTGGAACCAATA CATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATA TGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGT GGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTG GAACATACATGTGTGGAACCAATACATATGTGGAACATACATGTGTGGAA CCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACC ATACATGTGTGGAACCAATACATATGTGGACCATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01071.hp2 others(17): Show HG00323.hp1 HG01069.hp1 HG01071.hp2 HG01261.hp2 HG01975.hp1 HG02273.hp2 HG02300.hp1 NA18941.hp1 NA18950.hp2 NA18962.hp1 NA18979.hp2 NA18982.hp2 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0007g0021 a0001c0001t0007g0147 a0001c0001t0007g0167	20	279	0.0717	490	c.-32 others(501): Show c.-3234_-3233insTGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGG AACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGA ACTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACAT ATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTG TGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGT GGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGA ACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGAA CATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCA ATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATA CATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321822	A A	ATGTGGAA others(483): Show ATGTGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCG TGGAACCAATACATATGTGGAACATACATGCGTGGAACCAATACATATGT GGAACATACATGTGTGGAACCAATACATATGTGGAACTGTGGAACCAATA CATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACAT GTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATA TGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGT GGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTG GACCATACATGTGTGGAACCAATACATATGTGGAACATACATGTGTGGAA CCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGACC ATACATGTGTGGAACCAATACATATGTGGACCATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 NA19083.hp2 NA19088.hp2 HG01257.hp1 NA19083.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0163	3	262	0.0115	490	c.-32 others(501): Show c.-3234_-3233insTGTGGAACATACATGCGTGGAACCAATACATATG TGGAACATACATGCGTGGAACCAATACATATGTGGAACATACATGCGTGG AACCAATACATATGTGGAACATACATGTGTGGAACCAATACATATGTGGA ACTGTGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACAT ATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTG TGGAACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGT GGACCATACATGTGTGGAACCAATACATATGTGGACCATACATGTGTGGA ACCAATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGAA CATACATGTGTGGAACCAATACATATGTGGAACATACATGTGTGGAACCA ATACATATGTGGACCATACATGTGTGGAACCAATACATATGTGGACCATA CATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3147		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(483): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCATGT GTATCCATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGTGC ATGTATGTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTATGC ATGTGTGTGCATGTATGGGCATGTGTGTATACCTGTGTGTATGTGTATTT GTGTTGCATGTGTGTATATGTGTGTGTATTTACATGTGCATGTGTATACC TGTGTGTACGTGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCA TGTGTGTATGTGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATG TGTGTATGTGTGCATGTGTATATATGTGTCTATGTACTTGTGTGTATGTG TATGCATGTGTGTGTACATGTATGTATACGTGTGTATTTGTGCATGTGTA TGCACGTGTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02630.hp2 NA18612.hp2 HG00673.hp1 HG02630.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0128 a0001c0001t0178 a0001c0001t0010 a0001c0001t0128 a0001c0001t0178	a0001c0001t0010g0093 a0001c0001t0128g0026 a0001c0001t0178g0044 a0001c0001t0010g0093 a0001c0001t0128g0026 a0001c0001t0178g0044	3	28	0.1071	490	c.946 others(507): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACAAATACACACGTATACATACATGTAC ACACACATGCATACACATACACACAAGTACATAGACACATATATACACAT GCACACATACACACATGCATACACATATGCACACACATACACACATGCAT ACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAAAT ACACGTACACACAGGTATACACATGCACATGTAAATACACACACATATAC ACACATGCAACACAAATACACATACACACAGGTATACACACATGCCCATA CATGCACACACATGCATACACATGCACACACAAATACATATACGTGTATA CACACACATACATGCACGCACGTGCATACACATGCACACACAAATATACA CACACATGGATACACATGCACACATATACACACACACACACACACACACA CACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(483): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGCAT GTGTATCCATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGCGT GCATGTATGTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGTAT GCATGTGTGTGCATGTATGGGCATGTGTGTATACCTGTGTGTATGTGTAT TTGTGTTGCATGTGTGTATATGTGTGTGTATTTACATGTGCATGTGTATA CCTGTGTGTACGTGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATG CATGTGTGTATGTGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCA TGTGTGTATGTGTGCATGTGTATATATGTGTCTATGTACTTGTGTGTGTG TATGCATGTGTGTGTACATGTATGTATACGTGTGTATTTGTGCATGTGTA TGCACGTGTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0184 a0001c0001t0184	a0001c0001t0184g0057 a0001c0001t0184g0057	1	26	0.0385	490	c.946 others(507): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACAAATACACACGTATACATACATGTAC ACACACATGCATACACACACACAAGTACATAGACACATATATACACATGC ACACATACACACATGCATACACATATGCACACACATACACACATGCATAC ACATACACACATGCATACACGTGCACATGTAAATACACACGCACAAATAC ACGTACACACAGGTATACACATGCACATGTAAATACACACACATATACAC ACATGCAACACAAATACACATACACACAGGTATACACACATGCCCATACA TGCACACACATGCATACACATGCACACACAAATACATATACGTGTATACA CACACATACATGCACGCACGTGCATACACATGCACACACAAATATACACA CACATGGATACACATGCACACATATACACACACACACACACACACACACA CACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37707711	T T	TAGTGTGT others(483): Show TAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATGTGTGC ATGTGTATCCATGTGTGTGTATATTTGTGTGTGCATGTGTATGCACGTGC GTGCATGTATGTGTGTGTATACACGTATATGTATTTGTGTGTGCATGTGT ATGCATGTGTGTGCATGTATGGGCATGTGTGTATACCTGTGTGTATTTGT GTTGCATGTGTGTATATGTGTGTGTATTTACATGTGCATGTGTATACCTG TGTGTACGTGTATTTGTGCGTGTGTATTTACATGTGCACGTGTATGCATG TGTGTATGTGTATGCATGTGTGTATGTGTGTGCATATGTGTATGCATGTG TGTATGTGTGCATGTGTATATATGTGTCTATGTACTTGTGTGTATGTGTA TGCATGTGTGTACATGTATGTATACGTGTGTATTTGTGTGTGCATGTGTA TGCACGTGTGTGTATGTGTGTAGGAGTGTGTGTGTGTGGGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0145 a0001c0002t0145	a0001c0002t0145g0147 a0001c0002t0145g0147	1	26	0.0385	490	c.946 others(507): Show c.946+6499_946+6500insCCCCACACACACACACTCCTACACACAT ACACACACGTGCATACACATGCACACACAAATACACACGTATACATACAT GTACACACATGCATACACATACACACAAGTACATAGACACATATATACAC ATGCACACATACACACATGCATACACATATGCACACACATACACACATGC ATACACATACACACATGCATACACGTGCACATGTAAATACACACGCACAA ATACACGTACACACAGGTATACACATGCACATGTAAATACACACACATAT ACACACATGCAACACAAATACACACAGGTATACACACATGCCCATACATG CACACACATGCATACACATGCACACACAAATACATATACGTGTATACACA CACATACATGCACGCACGTGCATACACATGCACACACAAATATACACACA CATGGATACACATGCACACATATACACACACACACACACACACACACACA CACACACACACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
LHPP_chr10_124456823_124619141	124471488	A A	ATATATAA others(483): Show ATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATT ACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATAT ATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTTA TATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTTA TATATATATTTATATGTATTTATATATATTTATATATTTATATGTATTTA TACATATATATTTATATGTATTTATATATATTTATATATATTTTTTATGT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	176	0.0057	490	c.125 others(507): Show c.125+9502_125+9503insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATTTA TATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTTA TATATATTTATATGTATTTATATATATATTTATATGTATTTATATATATT TATATATTTATATGTATTTATACATATATATTTATATGTATTTATATATA TTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507236	G G	GGTAGACA others(483): Show GGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAG GGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGAC AGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp2 HG01123.hp2 others(2): Show HG00738.hp2 HG01099.hp2 HG01123.hp2 HG01496.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0225 others(2): Show a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228	5	211	0.0237	490	c.624 others(507): Show c.624+9112_624+9113insACAGGATTTCAGGTGGGGGGATAGGGAG TATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTAT TTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATT TCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTT CAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTC AGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCA GGTGGGGAGTAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507458	A A	ATAGGGAG others(483): Show ATAGGGAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGG GTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGT AGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATA GGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTA GACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGGGGAGTAGGCAG GATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTGGGGAGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	107	0.0093	490	c.624 others(507): Show c.624+9337_624+9338insTATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATT TCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTT CAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTC AGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCA GGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAG GTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGG TGGGGAGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGGTG GGGAGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGG GGGGGTAGGGAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LIPM_chr10_88797730_88825546	88808910	C C	CATTTTAT others(483): Show CATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	31	0.0323	490	c.265 others(505): Show c.265+555_265+556insATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTT	LIPM	ENSG00000173239.14	transcript	ENST00000404743.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
LYPD8_chr1_248734415_248760759	248742496	C C	CGGGGAGA others(483): Show CGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGGAGATTATGCTC TGGTGGGGATGTTGGCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGG CAGTCGGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGGGGGAGATT ATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTACGCTCTGGTGGGGA TGTTGGCAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCCGGGG AGGTTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTATGCTCTGGT GGGGATGTTGGCAGCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCC GGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTCGGGGGAGATTATGCT CTGGTGGGGATGTTGGCAGCGGGGAGATTATGCTCTGGTGGGGATGTTGG CAGCCGGGGAGATTATGCTCTGGTGGGGATGTTGGCAGTCG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	368	0.0027	490	c.475 others(507): Show c.475+2645_475+2646insCGACTGCCAACATCCCCACCAGAGCATA ATCTCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCGCTGCCA ACATCCCCACCAGAGCATAATCTCCCCCGACTGCCAACATCCCCACCAGA GCATAATCTCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCCCCGC TGCCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCCAACATCCCCAC CAGAGCATAACCTCCCCGGCTGCCAACATCCCCACCAGAGCATAATCTCC CCGGCTGCCAACATCCCCACCAGAGCGTAATCTCCCCGGCTGCCAACATC CCCACCAGAGCATAATCTCCCCCGCTGCCAACATCCCCACCAGAGCATAA TCTCCCCCGACTGCCAACATCCCCACCAGAGCATAATCTCCCCGGCTGCC AACATCCCCACCAGAGCATAATCTCCCCGCTGCCAACATCCCCACCAGAG CATAATCTCCCC	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6			chr1	TogoVar
MBD3L3_chr19_7051207_7063676	7061874	T T	TTATATAA others(483): Show TTATATAATTATATTCTATATAATATAATTATATTATATATAATTATATT AAATATATTATATAATATATAATTATATTATATATTATATAATATATAAT TATATTATATATTATATAATATATAATTATATTATACATTATATAATATA TAATTATATTATATATTATAATACATTTAATATAATTATATTATAGATTA TAATCTATAATATAATTATATTAATAGTATTATAATATATAATATATTAT ATATAATTATATTATAACATATTATATATAATTATATTATAGATCATAAT CTATAATATAATTATATATAATATGTTATAATATATAATTATATTCTATA TATAATTATATATAATATAATTATATTCTGTATATAATTATATATAATAT AATTATATTCTGTATATAATTATATATAATTATATTCTATATATAATATA ATTATATATAATTATATACAGAATATAATTATATATAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	120	0.0083	490	c.-32 others(501): Show c.-3270_-3269insGTATTATATATAATTATATTCTGTATATAATTAT ATATAATTATATTATATATAGAATATAATTATATATAATTATATACAGAA TATAATTATATTATATATAATTATATACAGAATATAATTATATTATATAT AATTATATATAGAATATAATTATATATTATAACATATTATATATAATTAT ATTATAGATTATGATCTATAATATAATTATATATAATATGTTATAATATA ATTATATATAATATATTATATATTATAATACTATTAATATAATTATATTA TAGATTATAATCTATAATATAATTATATTAAATGTATTATAATATATAAT ATAATTATATATTATATAATGTATAATATAATTATATATTATATAATATA TAATATAATTATATATTATATAATATATAATATAATTATATATTATATAA TATATTTAATATAATTATATATAATATAATTATATTATATAGAATATAAT TATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3199		chr19	TogoVar
MSH4_chr1_75791882_75918242	75906495	T T	TATTATAT others(483): Show TATTATATATAATATATATACAATATTATATATATTATATATAATATATA TACATATTATATATATTATATATATACATATATATGTATATATACATATA TAATATGTATATATGTATATATATGTATAATATATATATTGTATATATAT ATTATACATATGTATATATATATTATACATATATATATGTATAATATATA TAATGTATATATATACATATTATATATTATATATAATATATACATATATA TTATATATAATATATACATATTATATATTATATATATAATATATATACAT ATTATATTATATATAATATATATACATATTACATATATTATATATAATAT ATATACATATATAATATATTATATATTATATATAATATATATAATATATA ATATATTATATATTATATATAATATATATAATATATAATATATTATATAT TATATATAATATATATAATATATAATATATTATATAATATA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0313 a0001c0002t0001g0313	1	263	0.0038	490	c.262 others(509): Show c.2620-6201_2620-6200insATTATATATAATATATATACAATATT ATATATATTATATATAATATATATACATATTATATATATTATATATATAC ATATATATGTATATATACATATATAATATGTATATATGTATATATATGTA TAATATATATATTGTATATATATATTATACATATGTATATATATATTATA CATATATATATGTATAATATATATAATGTATATATATACATATTATATAT TATATATAATATATACATATATATTATATATAATATATACATATTATATA TTATATATATAATATATATACATATTATATTATATATAATATATATACAT ATTACATATATTATATATAATATATATACATATATAATATATTATATATT ATATATAATATATATAATATATAATATATTATATATTATATATAATATAT ATAATATATAATATATTATATATTATATATAATATATATAATATATAATA TATTATATAATATA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	19/19			chr1	TogoVar
MVP_chr16_29815462_29853021	29843550	G G	GAGGAAGG others(483): Show GAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGA GGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAG GGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAA GGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGGAGGAAGGGAG GAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGG GGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGG AGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGG AGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	204	0.0049	490	c.163 others(507): Show c.1635-940_1635-939insAAGGGAGGAAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGG GAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGG AGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGA GGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGA GGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAG GAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAAGGGAGG AAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGGAGG GAGGGAGGAAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(483): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	196	0.0051	490	c.-28 others(501): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(483): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0006	1	196	0.0051	490	c.-28 others(501): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(483): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	196	0.0051	490	c.-28 others(501): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATAAATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(483): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	196	0.0051	490	c.-28 others(501): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTT ATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTAT ATTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTT ATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAA ATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYT1_chr20_64159452_64247253	64233239	T T	TTCCCCTC others(483): Show TTCCCCTCACCCTCCCTTCCCCTCTCCTCCCCTTCCCTCCTCCCCTCTTC CTCCTCTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTTC CCCTCCCCTCTCCCTCCCTCTCCCCCTCTCCCTCCCCTCCCCTCCCTCCC TCCCCTCTCTCCCTCCCTCTCCCTCCCCTCCTCCTTCCTCCCCTCTCCCT CCCCTTCCCCTCCCCTCTCCCTCCTTCCTCCCTCTCCTCCCCTCTCCCTC CCCTCCCCCCCTCCCCTCCCCCTCCCCTCCTCCTCCCCTCTCCCTCCCCT CCCCCTCCCCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCC CTTCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0121 a0001c0001t0011g0121	1	222	0.0045	490	c.289 others(507): Show c.2897+860_2897+861insCACCCTCCCTTCCCCTCTCCTCCCCTTC CCTCCTCCCCTCTTCCTCCTCTCTCTCCTCCCCCTCCCCTCTTCCCTCCC CTCCCCCTCCCCTTCCCCTCCCCTCTCCCTCCCTCTCCCCCTCTCCCTCC CCTCCCCTCCCTCCCTCCCCTCTCTCCCTCCCTCTCCCTCCCCTCCTCCT TCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCTTCCTCCCTCT CCTCCCCTCTCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCTCCTC CCCTCTCCCTCCCCTCCCCCTCCCCTCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCC TTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCTCCCTCCCCTTCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCT	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(483): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCAT CCATCCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCAT CCACCTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTC CGTCCGTCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCA GCCATCCATCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCAT CCATCCATTCATTAGTTTATCCATCCTCACCCATCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0089 a0002c0002t0089	a0002c0002t0089g0051 a0002c0002t0089g0051	1	53	0.0189	490	c.47 others(499): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCTTCCATCCATTCATCCACTTGTTCATCCATCCATCCATCCAT CCATCCATCCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCAC CTATCCATCCATCCGTCCGTCTGTCCCATCCGTCCGTCCATCCGTCCGTC CGTCCATCCATCCATCCATCCATTCTTCCATCCATCCATCCATTCAGCCA TCCATCCATCCATCCATTCCATCCATCCATCCATCCATTCTTCCATCCAT CCATTCATTAGTTTATCCATCCTCACCCATCCATCCATCCATCCATCCAT CCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(483): Show TTCCATCCATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTTCC ATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCATCC ATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCCAT CCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATCCA TCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCCGT CCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp1 HG01884.hp2 HG00323.hp1 HG01884.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0083 a0004c0004t0056 a0003c0003t0083 a0004c0004t0056	a0003c0003t0083g0059 a0004c0004t0056g0124 a0003c0003t0083g0059 a0004c0004t0056g0124	2	54	0.0370	490	c.46 others(499): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTT CCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCAT CCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCC ATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATC CATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCC GTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCCATCC ATCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678093	C C	CCATCCAT others(483): Show CCATCCATCCGTTCTTCCATCCACCCATTCATTAGTTTATCCATCCTCAC CCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCATCC ACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCTT CCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGTCCAT CCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCTATCC ATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATCCATC CATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCCATCC GTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0077 a0003c0003t0077	a0003c0003t0077g0235 a0003c0003t0077g0235	1	361	0.0028	490	c.46 others(499): Show c.467_*468insGTTCTTCCATCCACCCATTCATTAGTTTATCCATCC TCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCTTCCATCCATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCTATCCATCCACCCTTCCATCCATTCATCCACTTGT CCATCCATCCATCCATCCATCCATCCATTTGTCCATCCATCCATCCACCT ATCCATCCAGCCGTCCATCTGTCCCGTCCGTCCGTCCATCCGTCCGTCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATTCTTCCATC CATCCATCCATTCAGCCATCCATCCATCCATCCATCCATTCCATCCATCC ATCCGTCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCCTCATCC ATCC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	468	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(483): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACTGTGTATGCAGTATGTATACTGTATATATACACT ATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTATA TATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTA TATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	118	0.0085	490	c.-75 others(509): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATACA GTATACATACTGTATAGTGTATATATACAGTATACATACTGCATACACAG TATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTA TACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATA CATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACA TACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATA CTGTGTATATATACGGTATACATACATACAGTATACATACATACAGTATA CATACATACAGTATACATGCTGTACACAGTATACATGCTGTACACAGTAT ACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(483): Show GTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	261	0.0038	490	c.91+ others(503): Show c.91+419_91+420insGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAG TCGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397716	G G	GTGAGGGA others(483): Show GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0121	1	261	0.0038	490	c.91+ others(503): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGCTGAGGGAGTCGGGGGGTGGGG GTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(483): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTT AAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAA ACTATATAGTTTATATAGTTTAAACTATATAGTTTAAACTATATAGTTTT AAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTAAAC TAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAG TTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAACTAT GTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATAGT TCATGTAGTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTT TAAACTAGTTTATATTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00735.hp2 others(21): Show HG00099.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01081.hp1 HG01168.hp2 HG01192.hp1 HG01257.hp2 HG03239.hp2 HG03490.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp2 HG04228.hp2 NA18944.hp1 NA18948.hp1 NA18981.hp2 NA18989.hp1 NA18991.hp2 NA18997.hp2 NA19005.hp1 NA20752.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0005c0018 a0001c0002 a0001c0003 a0005c0018	a0001c0002t0001 a0001c0003t0001 a0005c0018t0001 a0001c0002t0001 a0001c0003t0001 a0005c0018t0001	a0001c0002t0001g0024 a0001c0002t0001g0032 a0001c0003t0001g0002 others(20): Show a0001c0002t0001g0024 a0001c0002t0001g0032 a0001c0003t0001g0002 a0001c0003t0001g0009 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0013 a0001c0003t0001g0015 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0025 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0034 a0001c0003t0001g0035 a0005c0018t0001g0020	24	61	0.3934	490	c.342 others(509): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA ATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAA CTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAACT ATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTATA TAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAACTA TATAAACTATATAGTTTAAACTATATAAACTATATAGTTTTAAACTATAT AAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAA ACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAAAC TATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NUP205_chr7_135552917_135653753	135570788	T T	TTATATAT others(483): Show TTATATATTATATTAATATATATTAATTATATTTATATATTATATTAATA TATATTAATTATATTAATATATATTATATTAATATATATTAATTATATTT ATATATTATATTAATATATATTAATTATATTTATATATTATATTAATATA TATTAATTATATTAATATATATTAATTATATTAATATATATTAATATATA TTAATTATATTAATATATATTAATATAATTAATATATATTAATATATATT ATATTAATATATATTATATTAATATATATTAATATATATTATATTAATAT ATATTATATTAATATATATTAATATATATTATATTAATATATATTATATT AATATATATTAATATATATTATATTAATATATATTATATTAATATATATT AATATATATTATATTAATATATATTATATTAATATATATTAATATATATT ATATTAATATATATTATATTAATATATATTAATTATATTAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0093 a0002c0006t0001g0093	1	108	0.0093	490	c.29- others(503): Show c.29-285_29-284insTATATATTATATTAATATATATTAATTATATT AATATATATTATATTAATATATATTAATTATATTTATATATTATATTAAT ATATATTAATTATATTTATATATTATATTAATATATATTAATTATATTAA TATATATTAATTATATTAATATATATTAATATATATTAATTATATTAATA TATATTAATATAATTAATATATATTAATATATATTATATTAATATATATT ATATTAATATATATTAATATATATTATATTAATATATATTATATTAATAT ATATTAATATATATTATATTAATATATATTATATTAATATATATTAATAT ATATTATATTAATATATATTATATTAATATATATTAATATATATTATATT AATATATATTATATTAATATATATTAATATATATTATATTAATATATATT ATATTAATATATATTAATTATATTAATATATATTATATTAATATATATTA ATTATATT	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42		INFO_REALIGN_3_PRIME	chr7	TogoVar
NXN_chr17_794310_984776	809871	G G	GTGTGAGC others(483): Show GTGTGAGCGGCGGGCACCTTACGAGCCACTGTGAGCGGCGGGCACCTTAC GAGTCCGTGTGAGCGGCGGGCACCTTACGAGTCCGTGTGAGCGGCGGGCA CGTTACGAGCCAGTGTGAGTGGCGTGTACGTTACGAGTCTGTGAGTGGCG TGCACGTTAAGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCCGTGTGA GTGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTCTGT GAGTGGCGTGCACGTTACGAGTCCGTATGAGCGGCGGGCACCTTACGAGT CCGTGTGAGCGGCGGGCACGTTACGAGCCAGTGTGAGTGGCGTGTACGTT ACGAGTCTGTGAGCGGCGTGCACGTTACGAGTCTGTGAGTGGCGTGCACG TTAAGAGTCCGTGTGAGTGGCGTGCACGTTACGAGTCCCTGTGAGTGGCG TGCACGTTACGAGTCTGTGAGTGGCGTGCACGTTACGAGTC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0002 a0001c0001t0017g0002	1	178	0.0056	490	c.821 others(507): Show c.821-4625_821-4624insGACTCGTAACGTGCACGCCACTCACAGA CTCGTAACGTGCACGCCACTCACAGGGACTCGTAACGTGCACGCCACTCA CACGGACTCTTAACGTGCACGCCACTCACAGACTCGTAACGTGCACGCCG CTCACAGACTCGTAACGTACACGCCACTCACACTGGCTCGTAACGTGCCC GCCGCTCACACGGACTCGTAAGGTGCCCGCCGCTCATACGGACTCGTAAC GTGCACGCCACTCACAGACTCGTAACGTGCACGCCACTCACAGACTCGTA ACGTGCACGCCACTCACACGGACTCGTAACGTGCACGCCACTCACACGGA CTCTTAACGTGCACGCCACTCACAGACTCGTAACGTACACGCCACTCACA CTGGCTCGTAACGTGCCCGCCGCTCACACGGACTCGTAAGGTGCCCGCCG CTCACACGGACTCGTAAGGTGCCCGCCGCTCACAGTGGCTCGTAAGGTGC CCGCCGCTCACA	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	5/7			chr17	TogoVar
NXN_chr17_794310_984776	949445	C C	CCCCCCGG others(483): Show CCCCCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCC CGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTC TCCCCGCGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTC CTCCTCTCCCCCTGCCTCCTCCTCTCCCCGCGGCCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCCTGCCTCCTCCTCTCCCCCGGCCTCCTCCT CTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCC TCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCC CCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGCCTCCTCC TCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTCCTCCTCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0232 a0001c0003t0002g0232	1	226	0.0044	490	c.360 others(509): Show c.360+29873_360+29874insAGAGGAGGAGGCCGCGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCGCGGGGAGAGGAGGAGGCAGGGGGGA GAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCC GGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGA GGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGAGAGGAGGAGGCAGGGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGGCCGCGGGGAGAGGAGGAG GCAGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCGCGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGG GAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGG CAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCCGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PIAS4_chr19_4002736_4044386	4036286	T T	TCACACAC others(483): Show TCACACACACACACACATCTATACAGTCCACACCTGTTACATGCACACAT CTATACAGTCCACACCGTCACACATCTATACAGTCCACACCGTCATACAC ACACACGTCTATACAGTCCACACTGTCACACATCCGTACAGTCCACACTG TCATACAAACACACACACATCTATACGGTCCACACCGTCACACATCCATA CAGTCCACACCGTCATACAAACACACACACATCTATACAGTCCACACCTG TTACATGCACACATCTATACAGTCCACACCGTCACACATCCATACAGTCC ACACCGTCATACACACACACATCTATACAGTCCACACCGTCTCACATCTA TACAGTCCACACTGTCATACACACACATCTATACAGTCCACACCGTCACA CATCCATATAGTCCACACCATCATACACACACACATCTCTACAGTCCACA CCATCACATGCACACACACATCTATATGGTCTACACCGTCA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	192	0.0052	490	c.114 others(509): Show c.1143-1074_1143-1073insCATCTATACAGTCCACACCTGTTACA TGCACACATCTATACAGTCCACACCGTCACACATCTATACAGTCCACACC GTCATACACACACACGTCTATACAGTCCACACTGTCACACATCCGTACAG TCCACACTGTCATACAAACACACACACATCTATACGGTCCACACCGTCAC ACATCCATACAGTCCACACCGTCATACAAACACACACACATCTATACAGT CCACACCTGTTACATGCACACATCTATACAGTCCACACCGTCACACATCC ATACAGTCCACACCGTCATACACACACACATCTATACAGTCCACACCGTC TCACATCTATACAGTCCACACTGTCATACACACACATCTATACAGTCCAC ACCGTCACACATCCATATAGTCCACACCATCATACACACACACATCTCTA CAGTCCACACCATCACATGCACACACACATCTATATGGTCTACACCGTCA CACACACACACACA	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(483): Show GGAGGGGAGGGGGAAGAGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGG AAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGG GAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGGA GGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGGAAGAGGGGAA GGGAGGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGG GGAGGGGAGGGGGAAGAGGGGAAGGAGGGGAGGGGGAAGAGGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGA AGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	29	0.0345	490	c.53 others(501): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGAGGGGGAAGAGGGGA GGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGG GGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGG AAGAGGGGAGGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGGAAGAGGGGAAGGGAGGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGAGGGGAGGGG GAAGAGGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGGGAAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA GGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(483): Show GGAGGGGAGGGGGAAGAGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGG AAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGG GAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGGA GGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGGAAGAGGGGAA GGGAGGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGG GGAGGGGAGGGGGAAGAGGGGAAGGAGGGGAGGGGGAAGAGGGGGAAGGG AGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAG GGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGA AGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0070 a0002c0009t0070	a0002c0009t0070g0003 a0002c0009t0070g0003	1	18	0.0556	490	c.262 others(505): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTTCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCCTCCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTT CCCCCTCCCCTCCCTTCCCCCTCTTCCCCCTCCCCTCCTTCCCCTCTTCC CCCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCC CTCCCCCTCCCTTCCCCTCTTCCCCCCTCCCATCTCCTCCCCTCCCCTCT TCCCCCTCCCCTCCCCCTCCCCTCTTCCCCCTCCCCTCTTCCCCCTCCCC TCTTCCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCCCTCC CCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCTTCCCCCTCCCTCTTCC CCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKP3_chr11_389209_409908	401952	C C	CGCTCACA others(483): Show CGCTCACACCCGCCCGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCC CGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTC ACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCC CGCTCACACCCCGCCCCGCTCACACCCGGCCCGCTCACCCCCGGCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACC CGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0027 a0001c0004t0001g0027	1	209	0.0048	490	c.173 others(509): Show c.1738-1126_1738-1125insGCTCACACCCGCCCGCCCCGCTCACA CCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGGCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCCGCCCCGCTCACACCC GGCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACCCCCGGCCCCGCTCACACCCCGCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTC ACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACC CGGCCCCGCTCACA	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCCCCT others(483): Show TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCT CTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTC TCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTT CTTCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC CCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0282 a0001c0001t0014g0282	1	228	0.0044	490	c.306 others(509): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTC TCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC TCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCT CTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTCTTTCTCTCC TCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTCCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRDM16_chr1_3064203_3443621	3212653	C C	CGGTCCTC others(483): Show CGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCA TCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCT CGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCC GCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGC CCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTC CTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTC CCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTG CCGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTCA TCCTCCCGGCCCCCTCGCTGCCGTCCTCCCGCTCATCCTACCGGCCCCCT CGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02109.hp2 HG02145.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0015 a0001c0006 a0002c0015	a0001c0006t0011 a0002c0015t0014 a0001c0006t0011 a0002c0015t0014	a0001c0006t0011g0039 a0002c0015t0014g0073 a0001c0006t0011g0039 a0002c0015t0014g0073	2	193	0.0104	490	c.387 others(509): Show c.387+26221_387+26222insCCGCTCATCCTCCCGGCCCCCTCGCT GCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTC ATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCC TCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCC CGCTCATCCTCCCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGG CCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCGGT CCTCCCGCTCATCCTCCCGGCCCCCTCGCTGCCGTCCTCCCGCTCATCCT ACCGGCCCCCTCGCTGCGGTCCTCCCGCTCATCCTCCCGGCCCCCTCGCT GCCGTCCTCCCGCTCATCCTACCGGCCCCCTCGCTGCGGTCCTCCCGCTC ATCCTCCCGGCCCCCTCGCTGTGGTCCTCCCGCTCATCCTCCCGGCCCCC TCGCTGCGGTCCTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar

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