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
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAACAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02615.hp1 HG02818.hp2 others(4): Show HG02280.hp2 HG02615.hp1 HG02818.hp2 HG02896.hp2 HG03139.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0002 a0001c0001t0004g0273 a0001c0001t0004g0274	7	185	0.0378	723	c.55 others(734): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAACAAAAACAAAAACATAGGTA TCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTT TGTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTG CAATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTG ATTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCA CTATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTT TGGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGG CCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGT TGACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCT CATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC6A3_chr5_1387794_1450440	1414399	G G	GGGGGGGC others(716): Show GGGGGGGCCGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCGG GAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGG CCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGG GGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGG GGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGG GGCAGGGCGGGGAAGGCGCTGGGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0357	1	312	0.0032	723	c.115 others(740): Show c.1156+291_1156+292insACCCAGCGCCTTCCCCGCCCTGCCCCTC CCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC CCGCCCTGCCCCTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCC TCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT CCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCC CCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCC CCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTG CCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGG CCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414462	G G	GGAAGGCA others(716): Show GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGG GTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACT GGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC GGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGG CCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGG GGGGGCCGGGAGGGGCAGGGCGGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	334	0.0030	723	c.115 others(740): Show c.1156+228_1156+229insTCCGCCCTGCCCCTCCCGGCCCCCCCAC CCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCT CCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCC ACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTT CCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCC CCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCC CCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTG CCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTG CCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGG CCCCCCACCCAGTGCCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAG CGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(716): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAAATATATTATAGTT TATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACATATATTATAGTTT ATATAATATATACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAAC ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	82	0.0122	723	c.12+ others(738): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTAT ATAATATATAAAATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACATATATTATAGTTTATATAATATATACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATAT ATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
TECTA_chr11_121096243_121196490	121185900	C C	CAGATGTT others(716): Show CAGATGTTCAGTGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGC TTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCTTAATGAATGAATAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGCAGATGTTCAATGCTTAATGAGTAGGGAAAGCAGATGTT CAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAGTGCTTAATGAAT GAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAG ATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAA AGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATG CTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGA AAGCAGATGTTCAATGCTGAATGAATGAGTAGGGAAAGCAGATGTTCAAT GCTTAATGAATGAGTAGGGAAAGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0133 a0003c0004t0002g0133	1	290	0.0034	723	c.600 others(742): Show c.6000-1923_6000-1922insGTGCTTAATGAGTAGGGAAAGCAGAT GTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATG AATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAG CAGATGTTGAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTGAATGCT TAATGAATGAATAGGGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGG GAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCA ATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAGTAG GGAAAGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTC AGTGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAATGAATG AGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGA TGTTCAATGCTTAATGAATGAGTAGGGAAAGCAGATGTTCAATGCTTAAT GAATGAGTAGGGAAAGAAGATGTTCAATGCTTAATGAATGAGTAGGGAAA GCAGATGTTGAATGCTTAATGAGTAGGGAAAGCAGATGTTCAATGCTTAA TGAATGAGTAGGGAAAGCAGATGTTCAATGCTGAATGAATGAGTAGGGAA AGCAGATGTTCAATGCTTAATGAATGAGTAGGGAAAGAAGATGTTCA	TECTA	ENSG00000109927.11	transcript	ENST00000392793.6	protein_coding	20/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(716): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATCATTATATATAATAT ACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATATA ATATACCTATTATATGCATTATATAATATATTATATATAATATGCATATT ATATGTATTATATATTATATATTATATATATAATATACATATTATATGTA TTATATATTATATATTATATATATAATATACATATTATATGTATTATATA TTATATATAATATACATATTATATATTATATATTATATACATATTATATA TTATATATTATATACATATTATATATTATATACATATTATATATTATATA TTATATACATATTATACATTATATATATCTAAAATATATAATACACATTA TATATTATATAATACACATTATATATAATATATAATACACATTATATATT ATATATAATACACATTATATATTATATATAATACACATTATATATTATAT AATACACATTATATATTATATATAATACACATTATATATTATATATAATA CACATTATATATTATATATAATACACATTATATATTATATAATACACATT ATATATTATATATAATACACATTATATATTATATATAATACACATTATAT ATATAATACACATTATATATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	82	0.0122	723	c.62 others(734): Show c.6215_*6216insTATAATATATAATGTGTATTATATATATAATGTG TATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATTATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGTATATTATATATATAATATATAATATATAATACATATAATATGCATA TTATATATAATATATTATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATA TTATATATAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(716): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATACATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATACATTATATATATCTAAAATATATAATACAC ATTATATATTATATAATACACATTATATATAATATATAATACACATTATA TATTATATATAATACACATTATATATTATATATAATACACATTATATATT ATATATAATACACATTATATATTATATAATACACATTATATATTATATAT AATACACATTATATATTATATATAATACACATTATATATTATATATAATA CACATTATATATTATATATAATACACATTATATATTATATAATACACATT ATATATTATATATAATACACATTATATATATAATACACATTATATATTAT ATATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02572.hp2 HG02886.hp2 others(2): Show HG02486.hp1 HG02572.hp2 HG02886.hp2 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0024 a0001c0001 a0001c0024	a0001c0001t0001 a0001c0024t0001 a0001c0001t0001 a0001c0024t0001	a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0155 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0155 a0001c0024t0001g0136	5	86	0.0581	723	c.62 others(734): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGT ATTATATATTATATATAATGTGTATTATATAATATATAATGTGTATTATA TATTTTAGATATATATAATGTATAATATGTATATAATATATAATATATAA TATGTATATAATATATAATATATAATATGTATATTATATATAATATATAA TACATATAATATGTATATTATATATATAATATATAATATATAATACATAT AATATGTATATTATATATATAATATATAATGTATAATACATATAATATGC ATATTATATATAATATATTATATAATGCATATAATAGGTATATTATATAT AATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTAT ATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATA TTATATATAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
THEG_chr19_356747_381026	377209	C C	CTCTGTGC others(716): Show CTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCC TCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCC TCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTG TGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0149 a0001c0001t0036g0149	1	199	0.0050	723	c.-12 others(734): Show c.-1240_-1239insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGG GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGG GGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGG GGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1184		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCAGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0186 a0001c0004t0012g0186	1	212	0.0047	723	c.34 others(734): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AACCTCTGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGT AGCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTT TAGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGA CCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGACTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00544.hp2 others(21): Show HG00140.hp1 HG00438.hp2 HG00544.hp2 HG01123.hp1 HG01361.hp2 HG02145.hp1 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 NA18747.hp2 NA18950.hp2 NA18960.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0003t0002 a0001c0001t0001 a0001c0004t0001 a0002c0003t0002	a0001c0001t0001g0047 a0001c0004t0001g0015 a0001c0004t0001g0043 others(12): Show a0001c0001t0001g0047 a0001c0004t0001g0015 a0001c0004t0001g0043 a0002c0003t0002g0005 a0002c0003t0002g0010 a0002c0003t0002g0019 a0002c0003t0002g0096 a0002c0003t0002g0109 a0002c0003t0002g0114 a0002c0003t0002g0128 a0002c0003t0002g0129 a0002c0003t0002g0130 a0002c0003t0002g0131 a0002c0003t0002g0181 a0002c0003t0002g0182	24	235	0.1021	723	c.34 others(734): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGTCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGT AGCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTT TAGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGA CCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02698.hp1 HG03098.hp2 others(1): Show HG01978.hp1 HG02698.hp1 HG03098.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0003 a0001c0011t0001 a0001c0001t0003 a0001c0011t0001	a0001c0001t0003g0004 a0001c0011t0001g0024 a0001c0001t0003g0004 a0001c0011t0001g0024	4	215	0.0186	723	c.34 others(734): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGT AGCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTT TAGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGA CCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01167.hp1 HG01934.hp2 others(22): Show HG00544.hp1 HG01167.hp1 HG01934.hp2 HG02056.hp1 HG02109.hp2 HG02615.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp2 HG03540.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 NA18906.hp2 NA18968.hp2 NA18979.hp2 NA19057.hp1 NA19065.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0004c0008 a0007c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0002c0003t0001 a0004c0008t0004 a0007c0020t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0108 a0001c0001t0001g0143 a0001c0001t0004g0121 a0001c0001t0007g0191 a0001c0002t0001g0167 a0002c0003t0001g0115 a0004c0008t0004g0029 a0007c0020t0001g0083	25	236	0.1059	723	c.34 others(734): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTGTTTTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGT AGCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTT TAGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGA CCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(716): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAACAAAAACAAAAACATAGGTATCTTACCTGGTTGGT TGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGA GACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTC AGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAAT TTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCT CGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTG GGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTC CTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGG TGCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02615.hp2 HG02818.hp1 others(4): Show HG02280.hp1 HG02615.hp2 HG02818.hp1 HG02896.hp1 HG03139.hp1 HG03471.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0009 a0001c0005 a0003c0009	a0001c0005t0006 a0001c0005t0008 a0003c0009t0008 a0001c0005t0006 a0001c0005t0008 a0003c0009t0008	a0001c0005t0006g0039 a0001c0005t0006g0193 a0001c0005t0008g0022 others(2): Show a0001c0005t0006g0039 a0001c0005t0006g0193 a0001c0005t0008g0022 a0003c0009t0008g0041 a0003c0009t0008g0042	7	218	0.0321	723	c.34 others(734): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAACAAAAACCAGCCAACCAACCAGG TAAGATACCTATGTTTTTGTTTTTGTTTTTTTTTTTTTTGAGACGGAGTC TTGCTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGC AACCTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGT AGCTGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTT TAGTACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGA CCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418917	C C	CCCTCCCT others(716): Show CCCTCCCTCCCTTTCCTTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTT CCCTTCTCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTTCCCT CCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCTTTCCTTCTC TCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGC CTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCC CTACGTCTCCTTTCCTTCCCTCCCTCCCTACGTCTCCTTTCCTTCCCTCC CTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCAC CCTCCCTCTCCTTCCCTTCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTC CCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTC TCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCTCCCTCTCCT TCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCC TTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCC CTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCC CTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCT CCCTTTCCTTCCCTCCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02083.hp1 HG02071.hp2 HG02083.hp1	a0005 a0005	a0005c0010 a0005c0028 a0005c0010 a0005c0028	a0005c0010t0002 a0005c0028t0002 a0005c0010t0002 a0005c0028t0002	a0005c0010t0002g0080 a0005c0028t0002g0065 a0005c0010t0002g0080 a0005c0028t0002g0065	2	54	0.0370	723	c.215 others(740): Show c.2154+782_2154+783insCCCTCCCTTTCCTTCCCTCCCTCCCCTT CCCTCCCTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTCCCCTTCCCT CCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCT CCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCT CCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACC TCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTACG TCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTC CTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCTCCCTCTCCTTC CCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCT TCCCTTCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCC TCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCC CTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTC CTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCAT CCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(716): Show ACACGCCACACACACAGGCACGCCACACACACAGGCACGCCACACACGCA CGCCACACACGCACGCCACACGCATGCCACACACAGCCACGCCACACACA CACGCCACACACACACAGGCACGCCACACACGCACGCCACACACACGCAT GCCACACACACGCCACACACACAGGCACGCCACACACACAGGCACGCCAC ACACACACGCCACACACACGCACGCCACACACGCACGCCACACACGCACG CCACACACATGCACGCCACATACGCCCGCCACACACGCACGCCACACACG CACGCCACACAGGCACCCCACACAAGCACGCCACACACACGCACGCCACA CACACACGCACGCCACAAACGCACGCCACACACGCACGCCACACGCACGC CAGCCACACACGCCAGCCACACACGCACGCCAGCCACACGCACGCACACA CGCACGCCACACGCACGCCACACACGAACGCCACAAACGCCACACACGAA TGCCACACGCACGCCACACACGCACGCCACACACGCACGCCACACACGCA CGCCACACACAGGCACGCCACACACGCACGCCACACACAGGCATGCCAAA CACGCACGCCACACATGCACGCCACACACACAGGCACACCACACACAGGC ACGCCACACACACAGGCACGCCACACACATGCACGCCACACACACAGGCA CGCCACACACATGCACGCCACACG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0379 a0004c0007t0001g0379	1	230	0.0043	723	c.961 others(738): Show c.961-449_961-448insCGTGTGGCGTGCATGTGTGTGGCGTGCCTG TGTGTGTGGCGTGCATGTGTGTGGCGTGCCTGTGTGTGTGGCGTGCCTGT GTGTGGTGTGCCTGTGTGTGTGGCGTGCATGTGTGGCGTGCGTGTTTGGC ATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCGTG TGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGGCATTCGTG TGTGGCGTTTGTGGCGTTCGTGTGTGGCGTGCGTGTGGCGTGCGTGTGTG CGTGCGTGTGGCTGGCGTGCGTGTGTGGCTGGCGTGTGTGGCTGGCGTGC GTGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGCGTGCGTGTGTGTGTGGC GTGCGTGTGTGTGGCGTGCTTGTGTGGGGTGCCTGTGTGGCGTGCGTGTG TGGCGTGCGTGTGTGGCGGGCGTATGTGGCGTGCATGTGTGTGGCGTGCG TGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGTGGCGTGTGTGTGTGGCG TGCCTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGT GTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTG TGGCGTGGCTGTGTGTGGCATGCGTGTGGCGTGCGTGTGTGGCGTGCGTG TGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(716): Show ACACGCCACACACAGGCACGCCACACACACAGGCACGCCACACACGCACG CCACACACGCATGCCACACACGCACGCCACACGCATGCCACACACAGCCA CGCCACACACACACGCCACACACACACAGGCACGCCACACACGCACGCCA CACACACGCATGCCACACACACGCCACACACACAGGCACGCCACACACAC AGGCACGCCACACACACACGCCACACACACGCACGCCACACACGCACGCC ACACACGCACGCCACACACATGCATGCCACATACGCCCGCCACACACGCA CGCCACACAGGCACGCCACACAAGCACGCCACACACACACGCACGCCACA AACGCACGCCACACACGCACGCCACACGCACGCCAGCCACACACGCACGC ACACACGCACGCCAGCCACACACGCACGCCACACGCACGCCACACACGAA CGCCACACAAACGCCACACACACGAATGCCACGCCACACACGCACGCCAC ACACGCACGCCACACACGCACGCCACACACAGGCATGCCACACACATGCA CGCCACACACAGGCACGCCACACACGCACGCCACACACAGGCATGCCAAA CACGCACGCCACACATGCACGCCACACACACAGGCACACCACACACAGGC ACGCCACACACACAGGCACGCCACACACATGCACGCCACACACACAGGCA CGCCACACACATGCACGCCACACG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG00639.hp2 others(35): Show HG00423.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG02165.hp1 HG02257.hp2 HG02698.hp1 HG03579.hp1 HG03688.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18998.hp1 NA19000.hp1 NA19012.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp2 NA19078.hp2 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0006 a0002c0029 a0002c0004 a0002c0006 a0002c0029	a0002c0004t0001 a0002c0006t0001 a0002c0029t0001 a0002c0004t0001 a0002c0006t0001 a0002c0029t0001	a0002c0004t0001g0004 a0002c0004t0001g0009 a0002c0004t0001g0010 others(28): Show a0002c0004t0001g0004 a0002c0004t0001g0009 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0050 a0002c0004t0001g0051 a0002c0004t0001g0052 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0059 a0002c0004t0001g0061 a0002c0004t0001g0062 a0002c0004t0001g0063 a0002c0004t0001g0066 a0002c0004t0001g0067 a0002c0004t0001g0068 a0002c0006t0001g0018 a0002c0006t0001g0021 a0002c0006t0001g0102 a0002c0006t0001g0136 a0002c0006t0001g0137 a0002c0006t0001g0192 a0002c0006t0001g0247 a0002c0006t0001g0301 a0002c0006t0001g0315 a0002c0029t0001g0167	38	267	0.1423	723	c.961 others(738): Show c.961-449_961-448insCGTGTGGCGTGCATGTGTGTGGCGTGCCTG TGTGTGTGGCGTGCATGTGTGTGGCGTGCCTGTGTGTGTGGCGTGCCTGT GTGTGGTGTGCCTGTGTGTGTGGCGTGCATGTGTGGCGTGCGTGTTTGGC ATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGGCGTGCATG TGTGTGGCATGCCTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCG TGCGTGTGTGGCGTGGCATTCGTGTGTGTGGCGTTTGTGTGGCGTTCGTG TGTGGCGTGCGTGTGGCGTGCGTGTGTGGCTGGCGTGCGTGTGTGCGTGC GTGTGTGGCTGGCGTGCGTGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGC GTGCGTGTGTGTGTGGCGTGCTTGTGTGGCGTGCCTGTGTGGCGTGCGTG TGTGGCGGGCGTATGTGGCATGCATGTGTGTGGCGTGCGTGTGTGGCGTG CGTGTGTGGCGTGCGTGTGTGTGGCGTGTGTGTGTGGCGTGCCTGTGTGT GTGGCGTGCCTGTGTGTGTGGCGTGTGTGTGGCATGCGTGTGTGTGGCGT GCGTGTGTGGCGTGCCTGTGTGTGTGTGGCGTGTGTGTGTGGCGTGGCTG TGTGTGGCATGCGTGTGGCGTGCGTGTGTGGCATGCGTGTGTGGCGTGCG TGTGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(716): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAACAACAACAAAGAAAAAAAAAACAAATGA ACAAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGG TGTTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTAC AGGCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACT TCTTTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCAC GGTGGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01109.hp1 HG01884.hp1 others(2): Show HG01099.hp2 HG01109.hp1 HG01884.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0003 a0002c0004t0001 a0002c0004t0003	a0002c0004t0001g0028 a0002c0004t0001g0059 a0002c0004t0003g0030 others(1): Show a0002c0004t0001g0028 a0002c0004t0001g0059 a0002c0004t0003g0030 a0002c0004t0003g0060	5	123	0.0407	723	c.51 others(734): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTCTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCT CCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(716): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAACAACAACAAAGAAAGAAAAAACAAATGA ACAAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGG TGTTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTAC AGGCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACT TCTTTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCAC GGTGGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00741.hp2 HG00280.hp2 HG00741.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0018 a0002c0004t0001g0027 a0002c0004t0001g0018 a0002c0004t0001g0027	2	120	0.0167	723	c.51 others(734): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTCTTTCTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCT CCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(716): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACGACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAACAACAACAAGAAGAAAAAAAAACAAATGAAC AAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTGTTTTTGAGATG GTGTTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTC CGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTAC AGGCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACT TCTTTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCAC GGTGGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	119	0.0084	723	c.51 others(734): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGAGGCTGAGG CAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAAA ACAACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGT TTTTTTTTCTTCTTGTTGTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACT GCAAGCTCCGCCTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGGTTTCACCGTCGTTAGCCAGGATGATCTCGATCT CCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VIPR2_chr7_159023175_159149867	159088831	G G	GGGAATGG others(716): Show GGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAAT AGCCTCAGGCCTCGGCTCCTCAATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCAT CTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGG AATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGG CCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTC ATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATG GGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCA GGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCC TCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAA TGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCT CAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCT CCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGG AATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGC CTCAGGCCTCGGCTCCTCATCTGT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0217 a0001c0001t0010g0217	1	323	0.0031	723	c.357 others(742): Show c.357+14925_357+14926insACAGATGAGGAGCCGAGGCCTGAGGC TATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCC ACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAG CCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAG GCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATT CCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGG AGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTG AGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCA TTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGA GGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCC TGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCC CATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGAT GAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGG CCTGAGGCTATTCCCATTCCACAGATTGAGGAGCCGAGGCCTGAGGCTAT TCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VSIG4_chrX_66016738_66045080	66037121	A A	AATATATA others(716): Show AATATATAATATATATAATATATATAATATAATATAATGCAATATATAAT AATTATAATATAATATATAATATATAATATATATTATATATTATATATAA TATATATTATATATTATATATAATAATATAATATATAATATACATTATAT AATAATATAATATATAATATACATTATATAATAATATAATGTATATTATA TAATAATAATGTAATATATAACATATATTATATAATAATAATATAATATA TATTATATAATTAATATAATATATAATATATTTTATATAATAATAATATA ATATATATTATATAATTAATATAATATATAATATATATTATATAATAATA ATATAATATATATAATAATTATATAATATAGTATATAATATATATTATAT AATAATAATATAATATATATAATAATTATATAATATTAGAATATATATTA TACAATAATAATATAATATATTATACAATAATAATATAATATATATATAA TTATATAATATAATATATATAATAATAATATAATATAATATATAATATAT ATTATATAGTAATAATATAATATAATATATAATATATATTATATAGTAAT AATATAATATAATATATAATATATATTATATGATAATATAATATAATATA TATTATATATTATATTATAATATAATATAATATATATTATATATTATATT ATAATATAATATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	12	0.0833	723	c.55+ others(738): Show c.55+2822_55+2823insATAATATATATTATATTATATTATAATATA ATATATAATATATATTATATTATATTATAATATAATATATAATATATATT ATATTATATTATCATATAATATATATTATATATTATATTATATTATTACT ATATAATATATATTATATATTATATTATATTATTACTATATAATATATAT TATATATTATATTATATTATTATTATATATATTATATTATATAATTATAT ATATATTATATTATTATTGTATAATATATTATATTATTATTGTATAATAT ATATTCTAATATTATATAATTATTATATATATTATATTATTATTATATAA TATATATTATATACTATATTATATAATTATTATATATATTATATTATTAT TATATAATATATATTATATATTATATTAATTATATAATATATATTATATT ATTATTATATAAAATATATTATATATTATATTAATTATATAATATATATT ATATTATTATTATATAATATATGTTATATATTACATTATTATTATATAAT ATACATTATATTATTATATAATGTATATTATATATTATATTATTATATAA TGTATATTATATATTATATTATTATATATAATATATAATATATATTATAT ATAATATATAATATATATTATATATTATATATTATATTATAATTATTATA TATTGCATTATATTATATTATATATATTATATATATTATATAT	VSIG4	ENSG00000155659.15	transcript	ENST00000374737.9	protein_coding	1/7			chrX	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(716): Show TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCC TTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTT TCCCCCCTTCCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	100	0.0100	723	c.-10 others(740): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCTCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCC CCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCC CCCTTCCCCCCTTTCCCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCC CCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(717): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAGGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGG GAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAGAGAAGGAAAGGAT GGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGA AAGGAGGGATGGGAGGGAGGGAGGGATGGGAGGGAGGGAGGGAAGGAAAG GAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAG GGAAGGAAAGGAGGGATGGGAGGGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0025 a0002c0029t0025	a0002c0029t0025g0212 a0002c0029t0025g0212	1	25	0.0400	724	c.259 others(745): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCATCCCTCCT TTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCC CATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCT CCCTCCCATCCCTCCCTCCCTCCCTCCTTTCCTTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCC CTCCCTCCCATCCCTCCCTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCCTCCCTCCCTCCCTCCCA TCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCC CTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTT CCTTCCCTCCCTCCCTCCCATCCTTTCCTTCTCTCCCACCCTCCCATCCC TCCTTTCCTTCCCACCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCATC TCTCCTTTCCTTCCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
AFF2_chrX_148495617_149005663	148581231	T T	TACGTATA others(717): Show TACGTATACACACATATACGTATACGTATACACACATATACGTATACGTA TACACACATATACGTATACGTATACACACATACGTATACGTATACACACA TATACGTATACGTATACACACATATACACGTATACGTATACGTGTACACA CATATACACGTATATACGTATACGTGTACACACATATACACGTATATACG TATACGTGTACGCACATATATACACGTATATACGTATACGTGTACACACA TATATATACACGTATATACGTATACGTGTACACACACGTATATACGTATA CGTGTACACACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACGTATA TACGTATACGTGTACACACACGTATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACACACGTATATACGTATACGTGTACA CACACACACGTATATACGTATACGTGTACACACACACACGTATATACGTA TACGTGTACACACACATACACGTATATACGTATACGTGTACACACACATA CACGTATATACGTATACGTGTACACACATATACCTATACGTGTACACACA TATACGTATACGTGTACACACATATACACGTATACGTGTACACACATATA CACGTATACGTGTACACACACATAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0125 a0001c0002t0009g0125	1	161	0.0062	724	c.48- others(741): Show c.48-70760_48-70759insACACATATACGTATACGTATACACACAT ATACGTATACGTATACACACATATACGTATACGTATACACACATACGTAT ACGTATACACACATATACGTATACGTATACACACATATACACGTATACGT ATACGTGTACACACATATACACGTATATACGTATACGTGTACACACATAT ACACGTATATACGTATACGTGTACGCACATATATACACGTATATACGTAT ACGTGTACACACATATATATACACGTATATACGTATACGTGTACACACAC GTATATACGTATACGTGTACACACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACACGTATATACGTATACGTGTACACACACGTATATACGTATACGT GTACACACACACGTATATACGTATACGTGTACACACACACACGTATATAC GTATACGTGTACACACACACACGTATATACGTATACGTGTACACACACAC ACGTATATACGTATACGTGTACACACACATACACGTATATACGTATACGT GTACACACACATACACGTATATACGTATACGTGTACACACATATACCTAT ACGTGTACACACATATACGTATACGTGTACACACATATACACGTATACGT GTACACACATATACACGTATACGTGTACACACACATACACGTATAC	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(717): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAG GGAAGGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAG GGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGG AAGGGAAGGGAAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGG AAAGGGAAGGGGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGG GAAGGGAAAGGGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGG AAGGGAAGGGGAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAA GGGAAAAGGGAAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGG ACGGACAGGACGAAAAAAAGAGAGGGGAGGGGAAGAGAGGGGAGGGGAGG GAAGAGAAGAAAAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	1	5	0.2000	724	c.927 others(741): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCTTTCCC TTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCC TTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTT CCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCCTTCCCTT CCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTT CCCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTTCCTTTC CCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCC CTTCCCTTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(717): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCAGGGTCAGAGCAGAGGCGG AGGTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0232 a0002c0002t0002g0232	1	76	0.0132	724	c.955 others(741): Show c.955-6211_955-6210insAACTGTCAGGGTCAGAGCAGAGGCGGAG GTGGGAACGTTGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAA CTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79200717	T T	TGGAGGTG others(717): Show TGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTC GGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGT GGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCG GGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCG GAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGAACGTTGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0002 a0002c0018t0002	a0002c0018t0002g0114 a0002c0018t0002g0114	1	251	0.0040	724	c.955 others(741): Show c.955-6178_955-6177insGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGAACGTTGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACGTTGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGCGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGGGA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAG AGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835512	A A	AGGCCCCG others(717): Show AGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	375	0.0027	724	c.36 others(735): Show c.3635_*3636insGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3495		chr19	TogoVar
AZU1_chr19_822837_837018	835512	A A	AGGCCCCG others(717): Show AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	375	0.0027	724	c.36 others(735): Show c.3635_*3636insGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCC CCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3495		chr19	TogoVar
CHTF18_chr16_783620_803074	795584	G G	GCCCCCCC others(717): Show GCCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGC CCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCC CAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAA CCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACC ACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACAC ACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCCAAACACAC TGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCG CCCCGCCCCGCCCCTCCCCTCCCCC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0064 a0003c0003t0001g0064	1	220	0.0045	724	c.217 others(739): Show c.2176-95_2176-94insCCAAACACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCGCCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC TTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGC CCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCC CCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCC AAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCTGTG CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCC CGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGCAGG others(717): Show GGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAA GAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGG AAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGG AGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0001 a0001c0058t0001	a0001c0058t0001g0102 a0001c0058t0001g0102	1	171	0.0058	724	c.85- others(741): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCC CTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(717): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACTACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACC	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	348	0.0029	724	c.51+ others(739): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTAGTATACATACTACATGATATACATA GTAGTATACATACTACATGATATACATAGTATGTAGTATACATACTACAT GATATACATAGTATGTAGTATACATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
DCLK2_chr4_150073445_150262438	150251087	A A	AACACCCC others(717): Show AACACCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCC CCCACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAAC ACCCCCACACCCCCACACCCCACACACCCCCCACACCACACATCCCCCAC ACCCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCC CAAATCCCCACACACCCCCCACACCACACATCCCTCACACCCCCCAACAC CCCCACACCCCCACACCCCACACACCCCCCACACCACACATCCCCCACAC CCCCCACACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCA ACACCCCCACACCCCCACACCCCCACACACCCCCCACACCACACATCCCC CACACCCCCCACACCCCCACACACCCCCCACACCACACACCCCCCACACC CCCCAACACCCCCACACCCCCACACCCCCACACACCCCCCACACCACACA TCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACACCCCCC ACACCCCCCAACACCCCCACACCCCCACACCCCCACACACCCCCCACACC ACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACAC CCCCCACACCCCCCAACACCCCCACACCCCCACACCCCCACACACCCCCC ACACCACACATCCCCCACACCCCCC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	71	0.0141	724	c.207 others(743): Show c.2073+1415_2073+1416insCCCCACACACCCCCCACACCACACAT CCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTCA CACCCCCCAACACCCCCACACCCCCACACCCCACACACCCCCCACACCAC ACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCC CCCACACCCCCCAAATCCCCACACACCCCCCACACCACACATCCCTCACA CCCCCCAACACCCCCACACCCCCACACCCCACACACCCCCCACACCACAC ATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCC CACACCCCCCAACACCCCCACACCCCCACACCCCCACACACCCCCCACAC CACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACCACACA CCCCCCACACCCCCCAACACCCCCACACCCCCACACCCCCACACACCCCC CACACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCCACACC ACACACCCCCCACACCCCCCAACACCCCCACACCCCCACACCCCCACACA CCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACACACCCCCC ACACCACACACCCCCCACACCCCCCAACACCCCCACACCCCCACACCCCC ACACACCCCCCACACCACACATCCCCCACACCCCCCACACCCCCACAC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
DECR2_chr16_396885_417482	397739	T T	TGGGGGGG others(717): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG GTGGGGGGGTGAGGGAGTCGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGA GTCGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGTGGGGGGGTGAGTCGGGGGGTGGGGTGGGGGTGGGGGGT GAGGGAGTCGGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGTGGGGGG TGAGGGAGTCGGGGGTGGGGTGGGGGGGGGGTGGGGGGTGGGGGGGGGGG GCTGAGGGAGTCGGGGGGTGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	358	0.0028	724	c.-42 others(735): Show c.-4225_-4224insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGTCGGGGGGTGGG GTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGAGGGAGTCGGG GGGTGGGGTGGGGGGTGAGGGAGTCGGGGGTGGGGTGGGGGGGGGGTGGG GGGTGGGGGGGGGGGGCTGAGGGAGTCGGGGGGTGGGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4145		chr16	TogoVar
DHRS3_chr1_12562910_12623210	12565675	C C	CTCCTGGC others(717): Show CTCCTGGCCTGCAGGCCAAATGCAATTTCATGGAAACCTCAGGAGTCAAA TCCTCTCCAAAAGGCTGGGCTGGGGCCACACCATGAAGACACAAGTCTGT CTGCAGCTCAAGGATGGTCAGAAAAATCGGGACTAAGACAAGACCCCCAC TTCATCCTCCTCGTTTATCCCTGCCCACTGAGACGTGCTCATCCCCAGTC TGTTTCCTGGGAGAGCCAGTGAGAGGCATCTGCCCTGTGGGCTCACTTGT GTCTAGACACACTAAGGGTCGGGCGATAGATGGGTGTGGACATTCCAGGA GGACGTCTTTAGCAACGCCCCATACTTTGGTAACATGTCCTCAAGGACCA AAAAGGAGACGGGTCCTTGAGGACCCATCTTGGGGCCTCGTCGTTTGCTG TCACCTGGTACTGTAGTCAGCAAGGGGACTTGGGGGTCAGGCAGAGCTGG TTCTAGATCCCTTGAGCCCAGGAGTTCCAGGCTGCAGTGAGCTATGATTG TGCCACTGCACTCCAGCCTGGACAACAGAGAAACACCCTGTCCCTCTAAA AAAAAAAAAAAAAAAAAAAAAAAAATACCTGTCTCCAGTGCTCACAAGCC TATTAACCTGGGCAAGGGTTTCCCCTGATGAGTGTCTTGTCACTTATGAA ATGGGCTTCATAATACCACTTTTCAAAAGGTTAGTGTGGGCCGGGTGCAG TGGCTCACACCTGTAATCCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00621.hp2 HG00735.hp1 others(35): Show HG00280.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01123.hp1 HG01168.hp2 HG01255.hp2 HG02027.hp1 HG02040.hp1 HG02132.hp1 HG02165.hp2 HG02523.hp2 HG02683.hp1 HG03490.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18954.hp1 NA18966.hp2 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18992.hp1 NA19003.hp2 NA19081.hp2 NA19085.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0014 a0001c0001t0025 a0001c0001t0030 a0001c0001t0035 a0001c0001t0039 a0001c0001t0064 a0001c0001t0087 a0001c0001t0094 a0001c0003t0003 a0001c0003t0013 a0001c0003t0031 a0001c0003t0055 a0001c0003t0074 a0001c0003t0097	a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0161 others(34): Show a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0003g0044 a0001c0001t0003g0047 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0003g0079 a0001c0001t0014g0278 a0001c0001t0014g0284 a0001c0001t0025g0025 a0001c0001t0030g0040 a0001c0001t0035g0188 a0001c0001t0039g0227 a0001c0001t0064g0201 a0001c0001t0087g0327 a0001c0001t0094g0359 a0001c0003t0003g0055 a0001c0003t0003g0059 a0001c0003t0003g0077 a0001c0003t0013g0346 a0001c0003t0013g0347 a0001c0003t0013g0348 a0001c0003t0013g0349 a0001c0003t0013g0350 a0001c0003t0013g0351 a0001c0003t0031g0002 a0001c0003t0055g0029 a0001c0003t0074g0223 a0001c0003t0097g0363	38	308	0.1234	724	c.26 others(735): Show c.2664_*2665insAAGCTGGGATTACAGGTGTGAGCCACTGCACCCG GCCCACACTAACCTTTTGAAAAGTGGTATTATGAAGCCCATTTCATAAGT GACAAGACACTCATCAGGGGAAACCCTTGCCCAGGTTAATAGGCTTGTGA GCACTGGAGACAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGGG ACAGGGTGTTTCTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCATAG CTCACTGCAGCCTGGAACTCCTGGGCTCAAGGGATCTAGAACCAGCTCTG CCTGACCCCCAAGTCCCCTTGCTGACTACAGTACCAGGTGACAGCAAACG ACGAGGCCCCAAGATGGGTCCTCAAGGACCCGTCTCCTTTTTGGTCCTTG AGGACATGTTACCAAAGTATGGGGCGTTGCTAAAGACGTCCTCCTGGAAT GTCCACACCCATCTATCGCCCGACCCTTAGTGTGTCTAGACACAAGTGAG CCCACAGGGCAGATGCCTCTCACTGGCTCTCCCAGGAAACAGACTGGGGA TGAGCACGTCTCAGTGGGCAGGGATAAACGAGGAGGATGAAGTGGGGGTC TTGTCTTAGTCCCGATTTTTCTGACCATCCTTGAGCTGCAGACAGACTTG TGTCTTCATGGTGTGGCCCCAGCCCAGCCTTTTGGAGAGGATTTGACTCC TGAGGTTTCCATGAAATTGCATTTGGCCTGCAGGCCAGGA	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding		2234		chr1	TogoVar
DHRS3_chr1_12562910_12623210	12565675	C C	CTCCTGGC others(717): Show CTCCTGGCCTGCAGGCCAAATGCAATTTCATGGAAACCTCAGGAGTCAAA TCCTCTCCAAAAGGCTGGGCTGGGGCCACACCATGAAGACACAAGTCTGT CTGCAGCTCAAGGATGGTCAGAAAAATCGGGACTAAGACAAGACCCCCAC TTCATCCTCCTCGTTTATCCCTGCCCACTGAGATGTGCTCATCCCCAGTC TGTTTCCTGGGAGAGCCAGTGAGAGGCATCTGCCCTGTGGGCTCACTTGT GTCTAGACACACTAAGGGTCGGGCGATAGATGGGTGTGGACATTCCAGGA GGACGTCTTTAGCAACGCCCCATACTTTGGTAACATGTCCTCAAGGACCA AAAAGGAGACGGGTCCTTGAGGACCCATCTTGGGGCCTCGTCGTTTGCTG TCACCTGGTACTGTAGTCAGCAAGGGGACTTGGGGGTCAGGCAGAGCTGG TTCTAGATCCCTTGAGCCCAGGAGTTCCAGGCTGCAGTGAGCTATGATTG TGCCACTGCACTCCAGCCTGGACAACAGAGAAACACCCTGTCCCTCTAAA AAAAAAAAAAAAAAAAAAAAAAAAATACCTGTCTCCAGTGCTCACAAGCC TATTAACCTGGGCAAGGGTTTCCCCTGATGAGTGTCTTGTCACTTATGAA ATGGGCTTCATAATACCACTTTTCAAAAGGTTAGTGTGGGCCGGGTGCAG TGGCTCACACCTGTAATCCCAGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	271	0.0037	724	c.26 others(735): Show c.2664_*2665insAAGCTGGGATTACAGGTGTGAGCCACTGCACCCG GCCCACACTAACCTTTTGAAAAGTGGTATTATGAAGCCCATTTCATAAGT GACAAGACACTCATCAGGGGAAACCCTTGCCCAGGTTAATAGGCTTGTGA GCACTGGAGACAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAGGG ACAGGGTGTTTCTCTGTTGTCCAGGCTGGAGTGCAGTGGCACAATCATAG CTCACTGCAGCCTGGAACTCCTGGGCTCAAGGGATCTAGAACCAGCTCTG CCTGACCCCCAAGTCCCCTTGCTGACTACAGTACCAGGTGACAGCAAACG ACGAGGCCCCAAGATGGGTCCTCAAGGACCCGTCTCCTTTTTGGTCCTTG AGGACATGTTACCAAAGTATGGGGCGTTGCTAAAGACGTCCTCCTGGAAT GTCCACACCCATCTATCGCCCGACCCTTAGTGTGTCTAGACACAAGTGAG CCCACAGGGCAGATGCCTCTCACTGGCTCTCCCAGGAAACAGACTGGGGA TGAGCACATCTCAGTGGGCAGGGATAAACGAGGAGGATGAAGTGGGGGTC TTGTCTTAGTCCCGATTTTTCTGACCATCCTTGAGCTGCAGACAGACTTG TGTCTTCATGGTGTGGCCCCAGCCCAGCCTTTTGGAGAGGATTTGACTCC TGAGGTTTCCATGAAATTGCATTTGGCCTGCAGGCCAGGA	DHRS3	ENSG00000162496.9	transcript	ENST00000616661.5	protein_coding		2234		chr1	TogoVar
DPEP1_chr16_89608642_89643433	89619063	C C	CCCCCCCC others(717): Show CCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCT GCTCCCCTCTCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCC CCGCTCCCCTCCCTGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	233	0.0043	724	c.-10 others(743): Show c.-107+5350_-107+5351insCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCA GCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTG CAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTG CCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
EXD3_chr9_137301896_137428162	137328653	T T	TACACGGG others(717): Show TACACGGGGCTACACGGGACTACACAGGGTCACACGGGACTACACGGGGC TACACGGGGCTACACGGGGCTACACGGGACTACACGGGGCTACACGGGGC TACACGGGACTACACAGGGTCACACGGGACTACACGGGACTACACGGGGC TACACGGGGCTACACGGGGCTACACGGGAACTACACGGGAGCTACACGGG ACTACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGG AGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGAGCTACACG GGGCTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGGCTACAC GGGGCTACACGGGAGCTACACGGGAGCTACACGGGGCTACACGGGACTAC ACGGGACTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGGCTA CACGGGGCTACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGGCT ACACGGGAGCTACACGGGAGCTACACGGGGCTACACGGGAGCTACACGGG AGCTACACGGGGCTACACGGGAGCTACACGGGACTACACAGGGTCACACG GGACTACACGGGACTACAGGGGACTACACGGGGTCACACGGGACTACACG GGACTACACGGGACTACACGGGACTACACGGGGTCACACGGGACTACACG GGACTACACGGGACTACACGGGGTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0025 a0003c0003t0001g0025	1	75	0.0133	724	c.199 others(743): Show c.1999-4511_1999-4510insGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCCTGTAGTCCCGTGTAGTCCC GTGTGACCCTGTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCTC CCGTGTAGCTCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCTCCCGTGTA GCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGT AGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTG TAGTCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCTCCCGTGTAGCCCCG TGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCC GTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTC CCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGTC CCGTGTAGCTCCCGTGTAGTTCCCGTGTAGCCCCGTGTAGCCCCGTGTAG CCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAG CCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAG CCCCGTGTAGTCCCGTGTGACCCTGTGTAGTCCCGTGTAGCCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137350298	G G	GCTAGATA others(717): Show GCTAGATAGAGAGGGGTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGG GTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACGGGG AAGGTTCTAGATAGAGAGGGGTGGGGATCACGGGAAGGGGGAGAGATAGA GAGGGGTGGGGATCACGGGGAGGGGGAGAGATAGGGGTGGGGATCACGGG GAGGGGGCGAGATAGAGAGGGGTGGGGATCACGGGGAAGGTTCTAGATAG AGAGGGATGGGGAACACGGGGAAGGTGCTAGATAGAGGGGGTGGGGATTA CGGGGAGAGAGCTAGATAGAGAGGGGTGGGGATCACGGGGAGGGTTCTAG ATAGAGAGGGGTGGGGATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGG GATCACGGGGAAGGTTCTAGATAGAGAGGGATGGGGATCACGGGGAAGGT GCTAGATAGAGAGGGGTGGGGATTACGGGGAGGGGTTAGAGAGGGGTGGG GATCACGGGGAGGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAAGGT TCTAGATAGAGAGGGATGGGGATCACGGGGAAGGTGCTAGATAGAGAGGG GTGGGGATTACGGGGAGGGGTTAGATAGAGAGGGGTGGGGATCATGGGGA GGGTTCTAGATAGAGAGGGGTGGGGATCACGGGGAGGGTTCTAGATAGAG AGGGGTGGGGATCACGGGGAGGGTT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03130.hp1 HG02896.hp1 HG03130.hp1	a0009 a0026 a0009 a0026	a0009c0020 a0026c0035 a0009c0020 a0026c0035	a0009c0020t0001 a0026c0035t0001 a0009c0020t0001 a0026c0035t0001	a0009c0020t0001g0005 a0026c0035t0001g0040 a0009c0020t0001g0005 a0026c0035t0001g0040	2	67	0.0299	724	c.149 others(741): Show c.1494+739_1494+740insAACCCTCCCCGTGATCCCCACCCCTCTC TATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCCTCC CCATGATCCCCACCCCTCTCTATCTAACCCCTCCCCGTAATCCCCACCCC TCTCTATCTAGCACCTTCCCCGTGATCCCCATCCCTCTCTATCTAGAACC TTCCCCGTGATCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCC ACCCCTCTCTAACCCCTCCCCGTAATCCCCACCCCTCTCTATCTAGCACC TTCCCCGTGATCCCCATCCCTCTCTATCTAGAACCTTCCCCGTGATCCCC ACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCTA GAACCCTCCCCGTGATCCCCACCCCTCTCTATCTAGCTCTCTCCCCGTAA TCCCCACCCCCTCTATCTAGCACCTTCCCCGTGTTCCCCATCCCTCTCTA TCTAGAACCTTCCCCGTGATCCCCACCCCTCTCTATCTCGCCCCCTCCCC GTGATCCCCACCCCTATCTCTCCCCCTCCCCGTGATCCCCACCCCTCTCT ATCTCTCCCCCTTCCCGTGATCCCCACCCCTCTCTATCTAGAACCTTCCC CGTGATCCCCACCCCTCTCTATCTAGAACCCTCCCCGTGATCCCCACCCC TCTCTATCTAGAACCCTCCCCGTGATCCCCACCCCTCTCTATCTAG	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	14/21			chr9	TogoVar
FAM86B1_chr8_12177106_12199082	12182478	G G	GTCAGCAG others(717): Show GTCAGCAGACAAACACGTGAACAAAGGTCTTGGCATCATAGACAATGTAA AGGATTAAGTGCTGTGCTTTTAGATATGCATACACATAAACATCTCAATG CTTTACAAAGCAGTATTGCTGCCCGCAGGTCCCACCTCCAGCCCTAAGGT GGTTTTTCCCTATCTCAGTAGATGGAGCATACAATCGGGTTTTATACCGA GACATTCCATTGCCCAGGGACAGGCAGGAGACAGATGCCTTCCTCTTGTC TCAACTGCAAGAGGCATTCCTTCCTCTTTTACTAATCCTCCTCAGCACAG ACCCTTTACGGGTGTCGGGCTGGGGGACGGTCAGGTCTTTCCCTTCCCAC GAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATACCTG GCTTTCCTAGGCAGAGGTCCCTGCGGCCTTCCGCAGTTTTTGTGTCCCTG GGTACTTGAGATTAGGGAGTGGTGATGACTCTTAAGGAGCATGCTGCCTT CAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTTAATCCATTTAA CTCTGAGTTGACACAGCACATGTTTCAGAGAGCACAGGGTTGGGGGTAAG GTTATAGATTAACAGAATCTCAAGGCAGAAGAATTTTTCTTAGTACATAA CAAAATGGAGTCTCCTATGTCTACTTCTTTCTACACAGACACAGTAACAA TCTGATCTCTCTTGCTTTTCCCCAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01257.hp1 HG01070.hp2 HG01257.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0005 a0009c0011t0005	a0009c0011t0005g0026 a0009c0011t0005g0027 a0009c0011t0005g0026 a0009c0011t0005g0027	2	174	0.0115	724	c.11 others(735): Show c.1127_*1128insGTGGGGAAAAGCAAGAGAGATCAGATTGTTACTG TGTCTGTGTAGAAAGAAGTAGACATAGGAGACTCCATTTTGTTATGTACT AAGAAAAATTCTTCTGCCTTGAGATTCTGTTAATCTATAACCTTACCCCC AACCCTGTGCTCTCTGAAACATGTGCTGTGTCAACTCAGAGTTAAATGGA TTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCA TGCTCCTTAAGAGTCATCACCACTCCCTAATCTCAAGTACCCAGGGACAC AAAAACTGCGGAAGGCCGCAGGGACCTCTGCCTAGGAAAGCCAGGTATTG TCCAAGGTTTCTCCCCATGTGATAGTCTGAAATATGGCCTCGTGGGAAGG GAAAGACCTGACCGTCCCCCAGCCCGACACCCGTAAAGGGTCTGTGCTGA GGAGGATTAGTAAAAGAGGAAGGAATGCCTCTTGCAGTTGAGACAAGAGG AAGGCATCTGTCTCCTGCCTGTCCCTGGGCAATGGAATGTCTCGGTATAA AACCCGATTGTATGCTCCATCTACTGAGATAGGGAAAAACCACCTTAGGG CTGGAGGTGGGACCTGCGGGCAGCAATACTGCTTTGTAAAGCATTGAGAT GTTTATGTGTATGCATATCTAAAAGCACAGCACTTAATCCTTTACATTGT CTATGATGCCAAGACCTTTGTTCACGTGTTTGTCTGCTGA	FAM86B1	ENSG00000186523.15	transcript	ENST00000448228.7	protein_coding	7/7	1127		chr8	TogoVar
FLT4_chr5_180596506_180654600	180615696	T T	TTCTCCAC others(717): Show TTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTC CACTTCCTTTTGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTC CTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCG GAGCACTGGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCGAAATCCACT TCCTTTCGGAGCACTGGGCCCACCGGTCACCTCCCTTCTCCACTTCCTTT CGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGC ACTGGGCCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTG GGCCCGCCGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCG CCGGTCACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGCCCCGCTGGT CACCTCCCTTCTCCACTTCCTTTTGGAGCACTGGGGCCTGCCGGTCACCT CCCTTCTCCACTTCCGAAATCCACTGTCTTTCGGAGCACTGGGGCCCCGC CGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTTGGAGCACTG GGCCCCGCTGGTCACCTCCCTTCTCCACTTCCGAAATCCACTTCCTTTTG GAGCACTGGGCCCCGCTGGTCACCTCCCTTCTCCACTTCCTTTCGGAACA CTGTGGCCCCGCTGGTCAACTCCCA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0295 a0002c0008t0004g0295	1	302	0.0033	724	c.321 others(741): Show c.3219+670_3219+671insTGGGAGTTGACCAGCGGGGCCACAGTGT TCCGAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAA AAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCAGCGGGGCCCAG TGCTCCAAAAGGAAGTGGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCG GGGCCCCAGTGCTCCGAAAGACAGTGGATTTCGGAAGTGGAGAAGGGAGG TGACCGGCAGGCCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACC AGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGG GCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAG TGCTCCAAAAGGAAGTGGAGAAGGGAGGTGACCAGCGGGGGCCCAGTGCT CCAAAAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAA GGAAGTGGAGAAGGGAGGTGACCGGTGGGCCCAGTGCTCCGAAAGGAAGT GGATTTCGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCCAGTGCTCCGA AAGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGAA GTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCAAAAGGAAGTGGAG AAGGGAGGTGACCAGCGGGGCCCAGTGCTCCAAAAGGAAGTGGAGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(717): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCC CTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCC TCTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCCCTCCCT CTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTCCCT CTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCC TCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCC CCCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCC TCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGT CTCCCCCTCTCCCCCCCTCTCCTCCTCTCCCCCCTCTCCCTCTCCCCCCT CCCTCTCTCCCCCTGCCCTCTCTCCCCCCTCCCTCTCTCCCCCCTCCCCC TCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTC TCCCTCTCTCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCCCTCTC CCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCAC CCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp1 HG03130.hp1 others(2): Show HG02486.hp2 HG02622.hp1 HG03130.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0183 a0001c0002t0001g0185 others(2): Show a0001c0002t0001g0179 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187	5	8	0.6250	724	c.126 others(741): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGAGAGAGGGAGAA GGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAGGGGAAGAGGG GGAGGGGGGAGAGAGGGAGGGGGGAGAGAGGGCAGGGGGAGAGAGGGAGG GGGGAGAGGGAGAGGGGGGAGAGGAGGAGAGGGGGGGAGAGGGGGAGACA GGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAGGGGGAGGG AGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAGGGGGA GGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAAGAGGG GGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAGAGG GAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAGAGG GAGGGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAGAGGG GAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGGGG AGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG AGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(717): Show TCCCCTTTCCCCCTCTCCCTCCCCTTTCCCCCTCTCCCTCCCTCCCCTCT CTCCCCCCTCTCCCTCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCC CCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCTTCCCCCC TCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCACCCCCC TCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCC CCTCCCTCCCTCTCCCTCTCTCCCCCTCCCCCTCTCCCTCTTTCTCCTTC CCGCTCCCTCTCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCTCCTTCCC GCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCC CCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCC TCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCTGCCCTC TCCCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCT CCTTCTCCCTCTCTCCCCACCCTCCTTCTCCCTCTCTCCCCCCCTTTCCC TCCCTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTCTC CCTCTCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCAC TCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	4	0.2500	724	c.126 others(741): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGAGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGGGGGAGAGAGGGAGAAGGAGGGTGGGGAGAGAGGGAGAAGGAGG GGGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGAGAG GGCAGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGGG GGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGA GAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGG AAGGAGAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGAGAGGGAGCGGGAA GGAGAAAGAGGGAGAGGGGGAGGGGGAGAGAGGGAGAGGGAGGGAGGGGG AGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGG GGGTGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGG GGGAAGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGG AGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGAGGGAGAGGGGGGAGAGA GGGGAGGGAGGGAGAGGGGGAAAGGGGAGGGAGAGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(717): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATAAATATATATATTTATATTTATTTA TATATATAAATATATATATTTATATTTATTTATATATATATAAATATATA TATTTATATTTATATTTATATATTTATATTTATATATATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTAATATATATTTATATA TATAAATATATATATTTATATATAAATATATATTTATGTATATTTATATA TAAATATATATATTTATATATATAAATATATATATTTATATATAAATATA TATATTTATATATAAATATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATAAATATATATATTTATATATATAAATATATA TATTTATATATATAAATATATATATTTATATATATAAATATATATATATT TATATTTACAAATATATATATTTATATATATATTTATATTTATATATATT TATATTTATATATATATATATAAATATATATTTATGTATATTTATATATA AATATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	95	0.0105	724	c.-97 others(741): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATAAATATATATATTTATAT TTATTTATATATATAAATATATATATTTATATTTATTTATATATATATAA ATATATATATTTATATTTATATTTATATATTTATATTTATATATATAAAT ATATATATTTATATTTATTTATATATATAAATATATATATTAATATATAT TTATATATATAAATATATATATTTATATATAAATATATATTTATGTATAT TTATATATAAATATATATATTTATATATATAAATATATATATTTATATAT AAATATATATATTTATATATAAATATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATTTATATATATAAATATATATATTTATATATATAAATATAT ATATATTTATATTTACAAATATATATATTTATATATATATTTATATTTAT ATATATTTATATTTATATATATATATATAAATATATATTTATGTATATTT ATATATAAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GTPBP6_chrX_299759_323796	321891	C C	CAAAAAAA others(717): Show CAAAAAAAAAAAAAAGAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGG GTGCCTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGA GCCCAGGAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCT ACAAAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTGCCTGTGG TCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGT TTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAA AAAAAGAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTG GTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAG TTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAA AAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTACCTGTGGTCCCAGCT GCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACC AGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAA AGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTGCTCGGGACGCTGA GGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCAGCATGGGCAATAT GGTAAGACCCTATTATCTACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	44	0.0227	724	c.-31 others(735): Show c.-3105_-3104insTTTTTGTAGATAATAGGGTCTTACCATATTGCCC ATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCC CGAGCAGCTGGGACCACAGGCACCCACCACCACGCCCGGCTTTTTTTTTT TTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAA CTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGAC CACAGGTACCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTGT AGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGC TCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCAC CCACCACCACGCCCGGCTAATTTTTCTTTTCTTTTCTTTTTTTTTTTTTG TAGATAATGGGGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGG CTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCA CCCACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTGTAGATAATGG GGTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAAT CCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCA CGCCCGGCTAATTTTTCTTTTCTTTCTTTTTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3096		chrX	TogoVar
GTPBP6_chrX_299759_323796	323554	G G	GTGTGTGT others(717): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCT CCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGC GTCCCCAGGTTGTGAGCTCAGGGACGTGTGTGTGTGTGTGTGTGTGTGTA GCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGAT GGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTTTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTG GGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGG TGAGCTCAGGGACGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA GCCGTCAATCTCCTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGAT GGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGACGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTAGCCGTCAATCTCCTGGGCTCCTGGGTTCCGT CTGCCCTGTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCA GGGACGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGCCGTCAATCTC CTGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGACGGAATGAGGGCG TCCCCAGGTGGTGAGCTCAGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0107 a0002c0002t0001g0107	1	150	0.0067	724	c.-47 others(735): Show c.-4768_-4767insTGTCCCTGAGCTCACCACCTGGGGACGCCCTCAT TCCGTCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGAC GGCTACACACACACACACACACACACACACACACACGTCCCTGAGCTCAC CACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCC AGGAGCCCAGGAGATTGACGGCTACACACACACACACACACACACACACA CACACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATG AACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACGGCTACACACAC ACACACACACACACACACACACACAAACGTCCCTGAGCTCACCACCTGGG GACGCCCTCATTCCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCC AGGAGACTGACGGCTACACACACACACACACACACACACACACACACACA CAAACGTCCCTGAGCTCACCACCTGGGGACGCCCTCATTCCATCTCTATG AACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACGGCTACACACAC ACACACACACACACACGTCCCTGAGCTCACAACCTGGGGACGCCCTCATT CCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGACTGACG GCTACACACACACACACACACACACACACACACACACACA	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4759		chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322915	A A	ATATATGG others(717): Show ATATATGGAATATATACGGAATATATATATAATATATATGGAATATATAT ATACGGAATATATATAATATATATACGGAATATATATATACGGAATATAT ATAATATATATACGGAATATATATATAATATATATATAATATATATACGG AATATATATATAATATATAAATGGAATATATATACGGAATATATATATAA TATATAAATGGAATATATATATACGGAATATATATATAATATATAAATGG AATATATATATACGGAATATATATATAATATATATATGGAATATATATAT ACGGAATATATATATAATATATATATGGAATATATATATACGGAATATAT ATATAATATATATATGGAATATATATATACGGAATATATATATTATATAT ATGGAATATATATATACGGAATATATATATAATATATATATGGAATATAT ATACGGAATATATATATATGGATATATATACGGAATATATATATATGGAA TATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGT ATATATGGAATATATATATATGGAATGTGTATATATGGAATATATATATA TGGAATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAA TATATATATATGGAATGTGTATATATGGAATATATATATGGAATGTGTAT ATATGGAATATATATATGGAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	317	0.0032	724	c.-21 others(735): Show c.-2141_-2140insTATATGGAATATATACGGAATATATATATAATAT ATATGGAATATATATATACGGAATATATATAATATATATACGGAATATAT ATATACGGAATATATATAATATATATACGGAATATATATATAATATATAT ATAATATATATACGGAATATATATATAATATATAAATGGAATATATATAC GGAATATATATATAATATATAAATGGAATATATATATACGGAATATATAT ATAATATATAAATGGAATATATATATACGGAATATATATATAATATATAT ATGGAATATATATATACGGAATATATATATAATATATATATGGAATATAT ATATACGGAATATATATATAATATATATATGGAATATATATATACGGAAT ATATATATTATATATATGGAATATATATATACGGAATATATATATAATAT ATATATGGAATATATATACGGAATATATATATATGGATATATATACGGAA TATATATATATGGAATATATATATATGGAATGTGTATATATGGAATATAT ATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGTATATA TGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGAA TGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATAT ATATGGAATGTGTATATATGGAATATATATATGGAATGTG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2054		chr21	TogoVar
ITGB1BP1_chr2_9398475_9428528	9406031	G G	GTGTCACT others(717): Show GTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGT GTGTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGG CCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTC CTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTC GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGT TTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCCT CAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGT CTTCCTCAGGCCTTCAGTGTGTGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	152	0.0066	724	c.80 others(733): Show c.802_*803insAACACACACTGAAGGCCTGAGGAAGACTAGATGTCA CAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACTAG ATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAA GACGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCT GAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGA AGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCAGTGACAAACACA CACTGAAGGCCTGAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACA AACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTCCACTCA GTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACAGAGGTC CACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGATGTCACA GAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGACGAGAT GTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGAGGAAGA CGAGATGTCACAGAGGTCCACTCAGTGACAAACACACACTGAAGGCCTGA GGAAGACTAGATGTCACAGAGGTCCACTCAGTGACACACACTGAAGGCCT GAGGAAGACTAGATGTCACAGAGGTCCACTCAGTGACA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding	7/7	802		chr2	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(717): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCC CACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAGC CGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACAGC CGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCC ACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCA CAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCC CCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCC GCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	5	0.2000	724	c.-41 others(739): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCTCACAGCCACCCCC CCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCACAG CCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCCA CAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCC CCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCA CCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCCACAG CCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCC CACAGCCACCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCG CCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACA GCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCCAAAGCCACCTCCCC ACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCC CCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGC CGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIF25_chr6_167992671_168050091	167997458	G G	GGGGCGGG others(717): Show GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGG AATCTGCAGAGATGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGA GATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAG ATGGGGGGTGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGG TGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0029 a0001c0003t0029	a0001c0003t0029g0354 a0001c0003t0029g0354	1	357	0.0028	724	c.-20 others(735): Show c.-2011_-2010insGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAG AGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGTGGGGGAATCTGCAGAG ATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGTGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGGTGGGGGC GGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGGGTGGGGGAATCTGCAGAGGTGGGGGCGG GGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		212		chr6	TogoVar

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