Joint Open Genome and Omics Platform (JoGo)

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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
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(207): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATAAATATATATATATTTATATATATAAATATATATATAT AAATATATATATATTTATATATATAAATATATATATATAAATATATATAT ATTTATATATATAAATATATATATATAAATATATATATATTTATATATAT AAATATATATATATT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	382	0.0026	214	c.159 others(231): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATAAATATATATATATTTATATATATAAA TATATATATATAAATATATATATATTTATATATATAAATATATATATATA AATATATATATATTTATATATATAAATATATATATATAAATATATATATA TTTATATATATAAATATATATATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPATC1L_chr21_46156160_46189459	46161017	G G	GGTGGGGG others(207): Show GGTGGGGGAGGTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGAAG GGGGAGGGGGAAGGGGGGAGGGGGAAGGGGAGGGGGAAGGGGGGAGGGGG AAGGGGAGGGGGAAGGGGGAGAGGGGGAGGGGGAGGGGGGGACGGGGGGG AGGGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGCGGGACCGGGGGAGGGG AGAGGGGGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0024 a0001c0003t0005g0024	1	251	0.0040	214	c.36 others(223): Show c.361_*362insTCCCCCTCCCCCTCTCCCCTCCCCCGGTCCCGCTTC CCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCGTCCCCCCCTCCCC CTCCCCCTCTCCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTTCCCCCTC CCCTTCCCCCTCCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCCTTCCCC CTCCCCCTTCCCCCTCCACCTCCCCCAC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		142		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161017	G G	GGTGGGGG others(207): Show GGTGGGGGAGGTGGAGGGGGAAGGGGGGAGGGGGAAGGGGGGAGGGGGAA GGGGGAGGGGGAAGGGGGGAGGGGGAAGGGGAGGGGGAAGGGGGGAGGGG GAAGGGGAGGGGGAAGGGGGAGAGGGGAGGGGGAGGGGGGACGGGGGGGA GGGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGCGGGACCGGGGGAGGGGG AGAGGGGGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0028 a0001c0003t0005g0028	1	251	0.0040	214	c.36 others(223): Show c.361_*362insTCCCCCTCCCCCTCTCCCCCTCCCCCGGTCCCGCTT CCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCGTCCCCCCTCCCC CTCCCCTCTCCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTTCCCCCTCC CCTTCCCCCTCCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCCTTCCCCC TCCCCCCTTCCCCCTCCACCTCCCCCAC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		142		chr21	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(207): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCC CTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCT TTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	418	0.0024	214	c.54 others(225): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(207): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACCCTCCCCCTCC CTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCT TTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 NA18984.hp1 HG03834.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0015 a0001c0001t0014g0048 a0001c0001t0001g0015 a0001c0001t0014g0048	2	418	0.0048	214	c.54 others(225): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(207): Show CCCTTCCCTTCCCTTCCCTTCCTTCCCTCCCCTCCCTCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCTCCCCTCCCC TCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCACCACCCTCCCCTCCC TTCCCCCTCCCCTTCCCTCTCCCCTCCCTCCTCTCCCTCCCCCTCCCGCT TTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	214	c.54 others(225): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAGGGAG GGGAGGGAAGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
ST3GAL3_chr1_43702536_43936159	43905572	C C	CCCCCTCC others(207): Show CCCCCTCCTCCTGCTCCTCTTCCCGCCACTGTTTCTCCCCCTCCTTCTGC TTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTTCCCGCCA CTGTTTCTCCCCCTCCTTCTGCTTCTCTTCCCGCCACTGTTTCTCCCCTC CTTCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTT CCCGCCACTGTTTCT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0005 a0005	a0005c0002 a0005c0002	a0005c0002t0002 a0005c0002t0002	a0005c0002t0002g0048 a0005c0002t0002g0048	1	274	0.0037	214	c.744 others(231): Show c.744+5859_744+5860insCCTCTTCCCGCCACTGTTTCTCCCCCTC CTTCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGCTTCTCTT CCCGCCACTGTTTCTCCCCCTCCTTCTGCTTCTCTTCCCGCCACTGTTTC TCCCCTCCTTCTGCTTCTCTTCCCGCCACTGTTTCTCCCCCTCCTCCTGC TTCTCTTCCCGCCACTGTTTCTCCCCTCCTCCTGCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST7_chr7_116948501_117235176	117031379	T T	TGTATATA others(207): Show TGTATATATATATGTATATATGTGTATATGTGTGTATATATATGTATATA TGTGCATATATACGCATATATGTGTGTATATGCGCATATATACGCATATA TGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCATATA TACGCATATATGTGTGTATATGCGCATATATACGCATATATGTGTGTATA TGCGCATATATACGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	188	0.0053	214	c.152 others(233): Show c.152-68383_152-68382insGTATATATATATGTATATATGTGTAT ATGTGTGTATATATATGTATATATGTGCATATATACGCATATATGTGTGT ATATGCGCATATATACGCATATATGTGTGTATATGCGCATATATACGCAT ATATGTGTGTATATGCGCATATATACGCATATATGTGTGTATATGCGCAT ATATACGCATATATGTGTGTATATGCGCATATATACGC	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15			chr7	TogoVar
STXBP3_chr1_108741674_108814523	108771505	G G	GATATATA others(207): Show GATATATATCTATATATCATATATAAATATATATGATATATATCTATATA TATCATATATAAATATATATGATATATATCTATATATATCATATATAAAT ATATATGATATATATCTATATATATCATATATAAATATATATGATATATA AATATATATGATATATATCTATATATATCATATATAAATATATATGATAT ATATCTATATATATC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	334	0.0030	214	c.439 others(231): Show c.439-1153_439-1152insTCTATATATCATATATAAATATATATGA TATATATCTATATATATCATATATAAATATATATGATATATATCTATATA TATCATATATAAATATATATGATATATATCTATATATATCATATATAAAT ATATATGATATATAAATATATATGATATATATCTATATATATCATATATA AATATATATGATATATATCTATATATATCATATATA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397808	A A	AGAGGGGG others(207): Show AGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGA AGGGGGAGGAGGGGGAGGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGA GGGGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGG TAGAGGGAGGGGACGGGAGGAGGGAGGGGAGGGGGAAGAGGGGAGGAGGT GGAGGGGAGGAGGGG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0182 a0004c0019t0001g0182	1	274	0.0037	214	c.424 others(231): Show c.4243+573_4243+574insCCCCTCCTCCCCTCCACCTCCTCCCCTC TTCCCCCTCCCCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTCC CTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCCC CCTTCTTCCCCTCTTCCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCT CTTCCCCCACCTCCTCCCCCTCCCCTTCTCCCCCTC	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TERT_chr5_1248167_1300068	1272985	C C	CAACCGCC others(207): Show CAACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCAC AGTCACCACACATCAGACCCCCACAACCGCCATCCACAGTCACCACACAT CAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACC GCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	392	0.0026	214	c.228 others(231): Show c.2287-706_2287-705insTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCT GATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TGM6_chr20_2375901_2437753	2379962	G G	GGCCCAGT others(207): Show GGCCCAGTGAGGCTGCTGAAGGTCACACAGCCAGTTTGGCCCAGAGATAA CAGAACCCAGGACCTCTACTGCCAGGCTATGATGCTCACTTCTAAACTGA GTATGGGCCGGGTGCAGTGGCTCTCACTTGTAATCTCGCACTTTGGGAGG CTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCA ACATGGCGAAACTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0335 a0001c0001t0002g0335	1	420	0.0024	214	c.-10 others(225): Show c.-1007_-1006insGCCCAGTGAGGCTGCTGAAGGTCACACAGCCAGT TTGGCCCAGAGATAACAGAACCCAGGACCTCTACTGCCAGGCTATGATGC TCACTTCTAAACTGAGTATGGGCCGGGTGCAGTGGCTCTCACTTGTAATC TCGCACTTTGGGAGGCTGAGGTGGGCAGATCACCTGAGGTCAGGAGTTTG AGACCAGCCTGGCCAACATGGCGAAACTGT	TGM6	ENSG00000166948.10	transcript	ENST00000202625.7	protein_coding		938		chr20	TogoVar
THEG_chr19_356747_381026	377075	T T	TCCCCCCC others(207): Show TCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCC CCACCCAGCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0307 a0004c0015t0001g0307	1	370	0.0027	214	c.-11 others(225): Show c.-1106_-1105insGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGC TGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGG AGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGGGGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1050		chr19	TogoVar
THEG_chr19_356747_381026	377235	T T	TCTGTGCC others(207): Show TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGC CTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0272 a0005c0005t0004g0272	1	370	0.0027	214	c.-12 others(225): Show c.-1266_-1265insGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGG AGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGGTACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1210		chr19	TogoVar
TH_chr11_2158929_2176815	2161592	A A	AGGACCCC others(207): Show AGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCC TGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCC AGGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCTGTCCCCA CACCCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0019 a0001c0004t0001g0019	1	388	0.0026	214	c.26 others(225): Show c.2640_*2641insCCGGGGACAGGGGTGTGGGGACAGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTCC	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2336		chr11	TogoVar
TMEM132D_chr12_129066726_129909025	129089546	C C	CGGGGTGT others(207): Show CGGGGTGTCCTCCATGACCGGGTGTCCTCCATGACCGGGTGTCCTCCCTG ACGGGAGTGTCTTCTCTGACCGGGGCGTCCTCCCTGACCGAGGTGTCCTC CATGACCGAGGGGTCCTCCCTGACGGGGTGTCCTCCCTGACCAGGGCTTC CTTCCTGACTGGGGTGTCCTCCCTGACTGGGGTGTCCTCCCTGACCAGGG CTTCCTTCCTGACTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	94	0.0106	214	c.144 others(233): Show c.1444-4845_1444-4844insCAGTCAGGAAGGAAGCCCTGGTCAGG GAGGACACCCCAGTCAGGGAGGACACCCCAGTCAGGAAGGAAGCCCTGGT CAGGGAGGACACCCCGTCAGGGAGGACCCCTCGGTCATGGAGGACACCTC GGTCAGGGAGGACGCCCCGGTCAGAGAAGACACTCCCGTCAGGGAGGACA CCCGGTCATGGAGGACACCCGGTCATGGAGGACACCCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM163_chr2_134450759_134724000	134607701	G G	GACAGACC others(207): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CTTGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTG AAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAAAGACCCCGAGA ACTGTACTGGTGAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19043.hp2 HG02976.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0165 a0001c0001t0004g0190 a0001c0001t0001g0165 a0001c0001t0004g0190	2	222	0.0090	214	c.323 others(233): Show c.323-55611_323-55610insTTTCACCAGTACAGTTCTCGGGGTCT TTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAG TTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCAAGGTCTGTCCTTT TCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGG GGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM242_chr6_157284025_157328519	157311001	C C	CATCATAG others(207): Show CATCATAGTGTCCCAGTGTTCGCTCACCTAGCCTGATCATAGTCCCCCAG TGTGCACTCACGTGGCCTCATCATACTGTCCCAGTGTGCACTCACCTGGC CTCATCATAGTGTCCCAGTGAGCACTCAACGGGCCTAATCATAGTGTCCC AGTGTCCGCTTACCTAGCCTCACCATAGTGGCCCAGTATCCGATCACCTA CATTCATCATATTGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp2 others(102): Show HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00735.hp1 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02135.hp2 HG02155.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG03041.hp2 HG03239.hp2 HG03486.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp2 NA18747.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18990.hp1 NA18994.hp1 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19077.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19090.hp2 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0006 a0004c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(16): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0003t0010 a0002c0002t0005 a0003c0006t0002 a0004c0007t0002	a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(95): Show a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0004g0078 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0011g0195 a0001c0001t0011g0205 a0001c0001t0011g0221 a0001c0001t0011g0228 a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0014g0252 a0001c0001t0015g0256 a0001c0001t0015g0257 a0001c0001t0018g0272 a0001c0001t0019g0254 a0001c0001t0019g0259 a0001c0001t0021g0002 a0001c0001t0031g0241 a0001c0001t0032g0242 a0001c0001t0033g0226 a0001c0001t0034g0202 a0001c0001t0035g0233 a0001c0001t0036g0190 a0001c0003t0010g0064 a0002c0002t0005g0179 a0003c0006t0002g0268 a0004c0007t0002g0327	105	344	0.3052	214	c.327 others(231): Show c.327+7780_327+7781insACAATATGATGAATGTAGGTGATCGGAT ACTGGGCCACTATGGTGAGGCTAGGTAAGCGGACACTGGGACACTATGAT TAGGCCCGTTGAGTGCTCACTGGGACACTATGATGAGGCCAGGTGAGTGC ACACTGGGACAGTATGATGAGGCCACGTGAGTGCACACTGGGGGACTATG ATCAGGCTAGGTGAGCGAACACTGGGACACTATGAT	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMPRSS9_chr19_2355265_2431261	2418444	C C	CCTTTCCT others(207): Show CCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTT TCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTG GCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTT TCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCT TCCCTCCCTCCCTTT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0023 a0023	a0023c0024 a0023c0024	a0023c0024t0002 a0023c0024t0002	a0023c0024t0002g0013 a0023c0024t0002g0013	1	114	0.0088	214	c.215 others(231): Show c.2154+307_2154+308insTTTCCTTCCCTCCCTGGCCTTTCCTTCC ATTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCC TCCCTTTCCTTCCCTCCCTGGCCTTTCCTTCCATTCCTTCCCTCCCTCCC TTTCCTTCCCTCCCTCCGTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCC TGGCCTTTCCTTCCATTCCTTCCCTCCCTCCCTTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF12_chr17_7544058_7562881	7546274	G G	GCCACCAT others(207): Show GCCACCATGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCAC CATGTTGGCCAGGCTGGTCTCAAACTCTTGATCTCGTGATCCACCTGCCT TGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCT ATTTATTTTATTTCAAGCAGTTCTCCTGCCTCAGCTTCCCAAGTAGCTGG AACTTCAGGCGTGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0091 a0001c0003t0003g0091	1	436	0.0023	214	c.-28 others(225): Show c.-2880_-2879insCCACCATGCCCGGCTAATTTTTGTATTTTTAGTA GAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCTTGATCTC GTGATCCACCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGC CACTGCGCCCGGCCTATTTATTTTATTTCAAGCAGTTCTCCTGCCTCAGC TTCCCAAGTAGCTGGAACTTCAGGCGTGCA	TNFSF12	ENSG00000239697.12	transcript	ENST00000293825.11	protein_coding		2783		chr17	TogoVar
TNFSF12_chr17_7544058_7562881	7546286	G G	GGCTAATT others(207): Show GGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAG GCTGGTCTCAAACTCTTGATCTCGTGATCCACCTGCCTTGGCCTCCCAAA GTGCTGGGATTACAGGCATGAGCCACTGCGCCCGGCCTATTTATTTTATT TCAAGCAGTTCTCCTGCCTCAGCTTCCCAAGTAGCTGGAACTTCAGGCGT GCACCACCATGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00733.hp1 others(35): Show HG00280.hp2 HG00323.hp2 HG00733.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01517.hp2 HG01975.hp2 HG02145.hp2 HG02148.hp1 HG02559.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03239.hp1 HG03486.hp1 HG03688.hp2 HG03834.hp2 HG04184.hp2 NA18906.hp1 NA19030.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0003 a0001c0006t0001 others(2): Show a0001c0003t0001 a0001c0003t0003 a0001c0006t0001 a0001c0006t0003 a0001c0006t0006	a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0036 others(28): Show a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0036 a0001c0003t0001g0055 a0001c0003t0001g0056 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0062 a0001c0003t0001g0063 a0001c0003t0001g0064 a0001c0003t0001g0065 a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0070 a0001c0003t0001g0071 a0001c0003t0001g0072 a0001c0003t0001g0092 a0001c0003t0003g0082 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0006t0001g0079 a0001c0006t0001g0080 a0001c0006t0001g0089 a0001c0006t0001g0090 a0001c0006t0003g0077 a0001c0006t0003g0078 a0001c0006t0006g0025	38	436	0.0872	214	c.-28 others(225): Show c.-2868_-2867insGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTT CACCATGTTGGCCAGGCTGGTCTCAAACTCTTGATCTCGTGATCCACCTG CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCGCCCGG CCTATTTATTTTATTTCAAGCAGTTCTCCTGCCTCAGCTTCCCAAGTAGC TGGAACTTCAGGCGTGCACCACCATGCCCA	TNFSF12	ENSG00000239697.12	transcript	ENST00000293825.11	protein_coding		2771		chr17	TogoVar
TNNT1_chr19_55127698_55154206	55137506	A A	AGACCCCA others(207): Show AGACCCCAGCCCCTCCTCCCTCAGCCCAGGAGTCCAGACCCCCAGCCCCT CCTCCCTCAGACCCAGGAGTGCAGGCCCCGAGCCCCTCCTCCCTCAGACC CAGGAGTGCAGGCCCCCAGCCCCTCCTCTCAGACTGAGTCCAAGCCCCAG ACCCTCTCGCATTAGGAACCAGAAGTCTGGCCCCCAGCCCCTCCTCCCTC AGCCCAGGAGTCCAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03195.hp1 HG02451.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0233 a0001c0001t0001g0087 a0001c0001t0001g0233	2	320	0.0063	214	c.502 others(229): Show c.502-295_502-294insCTGGACTCCTGGGCTGAGGGAGGAGGGGCT GGGGGCCAGACTTCTGGTTCCTAATGCGAGAGGGTCTGGGGCTTGGACTC AGTCTGAGAGGAGGGGCTGGGGGCCTGCACTCCTGGGTCTGAGGGAGGAG GGGCTCGGGGCCTGCACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCT GGACTCCTGGGCTGAGGGAGGAGGGGCTGGGGTC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	10/13			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930637	G G	GGGGTTAG others(207): Show GGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG GGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGG GGTTAGGGAGGCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	466	0.0022	214	c.49 others(225): Show c.4953_*4954insTAGGCCTCCCTAACCCCTGGCCTCCCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTC CCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCCAACCCCTGGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4732		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GTTAGGGA others(207): Show GTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAG GGGTTAGGGAGGCCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0062 a0002c0002t0002g0062	1	466	0.0022	214	c.49 others(225): Show c.4905_*4906insACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCTAGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCCAACCCCTGGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GTTAGGGA others(207): Show GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTG GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA19007.hp1 NA18959.hp2 NA19007.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0085 a0003c0003t0001g0172 a0001c0001t0001g0085 a0003c0003t0001g0172	2	466	0.0043	214	c.49 others(225): Show c.4905_*4906insACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC TAGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GTTAGGGA others(207): Show GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTG GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCTA GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGT TGGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0136 a0002c0002t0002g0136	1	466	0.0022	214	c.49 others(225): Show c.4905_*4906insACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCTAGGCCTCCCTAACCCCAG CCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GTTAGGGA others(207): Show GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTG GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	466	0.0022	214	c.49 others(225): Show c.4905_*4906insACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC TAGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAG CCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GTTAGGGA others(207): Show GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTG GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAG GGGTTAGGGAGGCCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	214	c.49 others(225): Show c.4905_*4906insACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCTAGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930893	T T	TGGGGTTA others(207): Show TGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG03579.hp2 HG02486.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	466	0.0043	214	c.46 others(225): Show c.4697_*4698insTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCC GGCCTCCCTAACCCCGGCCTCCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4476		chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097368	C C	CACACGTG others(207): Show CACACGTGTGTGTATATACATATACACGCGTGTGTATATACATATACACG CGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTG TATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATA CATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATA CACGCGTGTGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0003 a0006c0010t0003	a0006c0010t0003g0266 a0006c0010t0003g0266	1	334	0.0030	214	c.-45 others(225): Show c.-4588_-4587insATATACACACGCGTGTATATGTATATACACACGC GTGTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTAT ATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTAT ATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACAC ACGCGTGTATATGTATATACACACACGTGT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4562		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097499	A A	ACATATAC others(207): Show ACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATAT ACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGC GTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGT ATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATAC ATATACACGCGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	334	0.0030	214	c.-47 others(225): Show c.-4719_-4718insCACACGCGTGTATATGTATATACACACGCGTGTA TATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTA TATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACA CACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGCG TGTATATGTATATACACACGCGTGTATATG	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4693		chr20	TogoVar
TRPM2_chr21_44348621_44447644	44395914	A A	AAGCTGTG others(207): Show AAGCTGTGGAGGGGTGTGGAGGGCTGTGGAGGATGTGGAGGGGTGTGGAG GGCTGTGGAGGGATGTGGAGGCTGTGGAGGGGTGTGGAGGGGTGTGGAGG GCTGTGGAGGATGTGGAGGGGTGTGGAGGGCTGTGGAGGGGTGTGGAGGC TGTGGAGGGGTGTGGAAGCTGTGGAGGGGTGTGGAGGGCTGTGGAGGATG TGGAGGGGTGTGGAG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0013 a0004c0005t0003g0013	1	44	0.0227	214	c.193 others(231): Show c.1932+363_1932+364insAGCTGTGGAGGGGTGTGGAGGGCTGTGG AGGATGTGGAGGGGTGTGGAGGGCTGTGGAGGGATGTGGAGGCTGTGGAG GGGTGTGGAGGGGTGTGGAGGGCTGTGGAGGATGTGGAGGGGTGTGGAGG GCTGTGGAGGGGTGTGGAGGCTGTGGAGGGGTGTGGAAGCTGTGGAGGGG TGTGGAGGGCTGTGGAGGATGTGGAGGGGTGTGGAG	TRPM2	ENSG00000142185.18	transcript	ENST00000397928.6	protein_coding	12/31			chr21	TogoVar
TSHZ2_chr20_52967358_53500330	53204252	T T	TATGATGA others(207): Show TATGATGATATGATACTATATCATCATATAACATGATATGATACTATATC ATCATATAACATGATGATATGATACTATATCATCATATAACATGATGATA TGATACTATATCATCATATAACATGATGATATGATACTATATCATCATAT AACATGATGATATGATACTATATCATCATATAACATGATGATATGATACT ATATCATCATATAAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0092 a0001c0001t0041g0092	1	174	0.0058	214	c.41- others(231): Show c.41-49211_41-49210insATGATACTATATCATCATATAACATGAT GATATGATACTATATCATCATATAACATGATGATATGATACTATATCATC ATATAACATGATGATATGATACTATATCATCATATAACATGATGATATGA TACTATATCATCATATAACATGATGATATGATACTATATCATCATATAAC ATGATGATATGATACTATATCATCATATAACATGAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204379	G G	GATGATAT others(207): Show GATGATATACTATATCATCATATAACATGATGATATACTATATCATCATA TAACATTATGATATGATACTATATCATCATATAACATTATGATATGATAC TATATCATAATATAACATTATGATATGATACTATATCATAATATAACATT ATGATATGATACTATATCATAATATAACATTATGATATGATACTATTATA TCATAATATAACATT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	174	0.0058	214	c.41- others(231): Show c.41-49113_41-49112insACTATATCATCATATAACATGATGATAT ACTATATCATCATATAACATTATGATATGATACTATATCATCATATAACA TTATGATATGATACTATATCATAATATAACATTATGATATGATACTATAT CATAATATAACATTATGATATGATACTATATCATAATATAACATTATGAT ATGATACTATTATATCATAATATAACATTATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSNARE1_chr8_142207080_142408182	142390582	A A	AACAGACG others(207): Show AACAGACGCTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACACTGC TGGGGACTCCGTAACAGACGCTGTACACTGCGGGGGACTCCGTAACAGAC GCTGTACACTGCTGGGGACTCCGTAACAGACGCTGTACACTGCTGGGGAC TCCGTAACAGACGCTGTACACTGCGGGGACTCCGTAACAGACGCTGTACA CTGCTGGGGACTCCG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0092 a0004c0004t0001g0092	1	238	0.0042	214	c.-40 others(233): Show c.-40+12521_-40+12522insCGGAGTCCCCAGCAGTGTACAGCGTC TGTTACGGAGTCCCCGCAGTGTACAGCGTCTGTTACGGAGTCCCCAGCAG TGTACAGCGTCTGTTACGGAGTCCCCAGCAGTGTACAGCGTCTGTTACGG AGTCCCCCGCAGTGTACAGCGTCTGTTACGGAGTCCCCAGCAGTGTACAG CGTCTGTTACGGAGTCCCCCGCAGTGTACAGCGTCTGT	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13			chr8	TogoVar
TSPAN9_chr12_3072379_3291559	3198756	T T	TCACACCA others(207): Show TCACACCAGCACAGCTCACCACCAGCACAGGTCACACCAGCACAGCTCAC CACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGCACAGGTCACCA CCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGGTCACCACCA GCACAGGCCACCACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGC ACCATCAGCACAGGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp1 HG02970.hp2 others(1): Show HG02723.hp1 HG02818.hp1 HG02970.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0024 a0001c0001t0108 others(1): Show a0001c0001t0003 a0001c0001t0024 a0001c0001t0108 a0001c0002t0062	a0001c0001t0003g0014 a0001c0001t0024g0277 a0001c0001t0108g0288 others(1): Show a0001c0001t0003g0014 a0001c0001t0024g0277 a0001c0001t0108g0288 a0001c0002t0062g0090	4	288	0.0139	214	c.-17 others(231): Show c.-17-2418_-17-2417insACCAGCACAGCTCACCACCAGCACAGGT CACACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGCCAC CACCAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGGTCACAC CAGCACAGGTCACCACCAGCACAGGCCACCACCAGCACAGGTCACCACCA GCACAGGCCACCACCAGCACCATCAGCACAGGCCAC	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TWIST2_chr2_238843085_238915534	238870297	C C	CACACCAC others(207): Show CACACCACACCCCATACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACCCCCCCACACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACCCCACACACACCACACCCC CACACACACCACACACCCCACACACACCACACACCCCCCACACACCACAC CCCATACACACCACA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	338	0.0030	214	c.35 others(233): Show c.35+21564_*35+21565insACACCACACCCCATACACACCACACC CCACACACACCACACCCCACACACACCACACACCCCACACACACCACACC CCCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACCCCCACACACACCACACACCCCACACACAC CACACACCCCCCACACACCACACCCCATACACACCACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870316	C C	CACCACAC others(207): Show CACCACACACACACATCACATACCACACACCCGACACACGCCACACACAC ACCATACACCCCCCACACACCACACCCCACACACCATACACACCACACAC CCCACACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	338	0.0030	214	c.35 others(233): Show c.35+21583_*35+21584insACCACACACACACATCACATACCACA CACCCGACACACGCCACACACACACCATACACCCCCCACACACCACACCC CACACACCATACACACCACACACCCCACACACACCACACACCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXNDC9_chr2_99313982_99341333	99340177	T T	TGGAGGGG others(207): Show TGGAGGGGGATAATGCGGAGACGAGATGGGGGATGGGGGGGAATCGCTGC GAGGGAGGGATGGCGGAGGGGGGGGGGATGGGGGGGGGGGGGGGGGGGGG GGGTATGGGGGGGGGGGGGAAGGGGGGGTGGAAGGGTGATGGGGATGGAT GACGAGTGATGGGACGAGGGGGAGAAGGATGATTTGATTTATCTGGGAGG GGGGTTGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	370	0.0027	214	c.-39 others(225): Show c.-3972_-3971insCCCCACCCCAACCCCCCTCCCAGATAAATCAAAT CATCCTTCTCCCCCTCGTCCCATCACTCGTCATCCATCCCCATCACCCTT CCACCCCCCCTTCCCCCCCCCCCCCATACCCCCCCCCCCCCCCCCCCCCC CCATCCCCCCCCCCTCCGCCATCCCTCCCTCGCAGCGATTCCCCCCCATC CCCCATCTCGTCTCCGCATTATCCCCCTCC	TXNDC9	ENSG00000115514.12	transcript	ENST00000264255.8	protein_coding		3845		chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(207): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	320	0.0031	214	c.-38 others(225): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(207): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACACGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACACATATATGTGTGTGTATACGCATACACACATATA TGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	320	0.0031	214	c.-38 others(225): Show c.-3848_-3847insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACACGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATAC GCATACACACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(207): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACACGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACACATATGTGTGTGTATACGCATACACACACATATA TGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	320	0.0031	214	c.-38 others(225): Show c.-3848_-3847insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACACGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGC ATACACACACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(207): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACACGTGTGTATATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACATATATGTGTGTGTATACGCATACACACACATATA TGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0132 a0001c0001t0007g0132	1	320	0.0031	214	c.-38 others(225): Show c.-3848_-3847insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACACGTGTGTATATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC ATACACACACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UCN3_chr10_5359966_5379692	5370167	G G	GTGTGTGT others(207): Show GTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGT GTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTAT ATGTGTGTATGTGTGTGTATATGCGTGTGTATATGCGTGTATATGTGTGT GTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTGTATATGCGTGTGT ATATGCGTGTGTATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0059	1	468	0.0021	214	c.-6- others(229): Show c.-6-3541_-6-3540insGTATGTGTGTGTATGTGTGTGTATATGCGT GTGTATATGTGTGTGTGTATGTGTGTGTATGTGTGTGTATATGTGTGTGT ATGTGTGTGTATATGTGTGTATGTGTGTGTATATGCGTGTGTATATGCGT GTATATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATGTGTGTGTGT ATATGCGTGTGTATATGCGTGTGTATATGTGTGT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UMAD1_chr7_7635752_7884223	7679342	T T	TACATGTT others(207): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATA TTTAGTTTATAGATA	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA19076.hp1 HG02698.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0062 a0001c0002t0002g0007 a0001c0001t0002g0062 a0001c0002t0002g0007	2	250	0.0080	214	c.82+ others(229): Show c.82+5890_82+5891insCATGTTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATT TATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGA TAAATATATATTTATATATTTAGTTTATAGATAA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
VCX3B_chrX_8459830_8471510	8466865	G G	GGTGTGTG others(207): Show GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGGGAAGAGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGGAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0006 a0002c0002t0002g0006	1	271	0.0037	214	c.48 others(223): Show c.482_*483insGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTG TGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGGG GAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGGAGGAA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		356		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467105	G G	GGAGGGAG others(207): Show GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGAGGGAGGGAGGAAGAGGTGT GGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGGTGTGGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0079 a0079	a0079c0083 a0079c0083	a0079c0083t0031 a0079c0083t0031	a0079c0083t0031g0037 a0079c0083t0031g0037	1	271	0.0037	214	c.72 others(223): Show c.722_*723insGAGGGAGGAAGAGGTGGTGTGTGGGGAGGAGGGAGG GAGGAAGAGGTGTGGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGGTGTGGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		596		chrX	TogoVar
VPS53_chr17_503668_719839	594964	C C	CCGCCCTG others(207): Show CCGCCCTGGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTG ATTTGATGATGCACTCTAGTGTCCCCCTGGAGGAAGCTGGGAGATGGGAA GGGGTCTGGATCAATTTCCTGGTTTGATGATGCACTCTAGTGTCCCCCCT GGAGGAAGCTGGGAGATGGGAAGGGGTCTGGATCAATTTCCTGATTTGAT GATGCACTCTAGTGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0086 a0001c0002t0086	a0001c0002t0086g0221 a0001c0002t0086g0221	1	232	0.0043	214	c.121 others(233): Show c.1218+6830_1218+6831insACACTAGAGTGCATCATCAAATCAGG AAATTGATCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGGGGACAC TAGAGTGCATCATCAAACCAGGAAATTGATCCAGACCCCTTCCCATCTCC CAGCTTCCTCCAGGGGGACACTAGAGTGCATCATCAAATCAGGAAATTGA TCCAGACCCCTTCCCATCTCCCAGCTTCCTCCAGGGCG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(207): Show ATCATATATATATCATATATCATATATATCATATATGATACATATATATA TGATACATGTATCATATATGATACATATATATCATATATATGATACATAT ATATCATATATATGATACATATATATCATATATATGATACATATATATCT CATATATGATACATATATATCTCATATATGATACATATATATCTCATATA TGATACATATATATC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	340	0.0029	214	c.856 others(231): Show c.856+1989_856+1990insATATCATATATCATATATATCATATATG ATACATATATATATGATACATGTATCATATATGATACATATATATCATAT ATATGATACATATATATCATATATATGATACATATATATCATATATATGA TACATATATATCTCATATATGATACATATATATCTCATATATGATACATA TATATCTCATATATGATACATATATATCTCATATAT	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDPCP_chr2_63114559_63593477	63575467	G G	GCAGTATA others(207): Show GCAGTATATATACAGTGTATACACTGTATACACTGTATATACAGTATATA CAGTGTATACACTGTATATACAGTATATACAGTGTATACACTGTATATAC AGTATATACAGTGTATACACTGTATATACAGTATATACAGTGTATACACT GTATATACAGTATATACAGTGTATACACTGTATATACAGTATATACAGTG TATACACTGTATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02970.hp1 HG02922.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0121 a0001c0001t0009g0122 a0001c0001t0009g0121 a0001c0001t0009g0122	2	216	0.0093	214	c.75+ others(231): Show c.75+12729_75+12730insTATATACAGTGTATACACTGTATATACT GTATATACAGTGTATACACTGTATATACTGTATATACAGTGTATACACTG TATATACTGTATATACAGTGTATACACTGTATATACTGTATATACAGTGT ATACACTGTATATACTGTATATACAGTGTATACACTGTATATACTGTATA TACAGTGTATACAGTGTATACACTGTATATATACTG	WDPCP	ENSG00000143951.16	transcript	ENST00000272321.12	protein_coding	1/17			chr2	TogoVar

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