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
FAM174B_chr15_92612448_92660775	92631148	T T	TTATATAT others(215): Show TTATATATTATATATTACGTATTACATATTACATATTATATATTATATAT TACGTATTACATATTACATATTATATTATATATTACGTATTACATATTAC ATATTATATTATATATTACGTATTACATATTACATATTATATATTATATA TTACGTATTACATATTACATATTATATTATATATTATATATATTACATAT ATTATATATTATATTATATATAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	394	0.0025	222	c.345 others(237): Show c.345-804_345-803insTTATATATAATATAATATATAATATATGTA ATATATATAATATATAATATAATATGTAATATGTAATACGTAATATATAA TATATAATATGTAATATGTAATACGTAATATATAATATAATATGTAATAT GTAATACGTAATATATAATATAATATGTAATATGTAATACGTAATATATA ATATATAATATGTAATATGTAATACGTAATATATAATATATA	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM240C_chr2_241888988_241905464	241896714	G G	GGGGTGTG others(215): Show GGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTG GGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGG GGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTTTGGGTGTTGGGTGTGGGT GTTGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGT GTGTGTGTTGGGGTGTGGGTGAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	37	0.0270	222	c.161 others(237): Show c.161+471_161+472insTTCACCCACACCCCAACACACACACCCCTT CACCCACACCCCAACACCCACACCCCCACACCCACACCCCAACACCCACA CCCAACACCCAAACCCCTTCACCCACACCCCAACACCCACACCCCAACAC CCACACCCCCACACCCACACCCCCACACCCACACCCCCACACCCACACCC CAACACCCACACCCCAACACCCACACCCCAACACCCACACCC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FAM240C_chr2_241888988_241905464	241896714	G G	GGGGTGTG others(215): Show GGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTG GGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGG GGTGTGGGTGTTGGGGTGTGGGTGAGGGGTTTGGGTGTTGGGGTGTGGGT GTTGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGGT GTGTGTGTTGGGGTGTGGGTGAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	37	0.0270	222	c.161 others(237): Show c.161+471_161+472insTTCACCCACACCCCAACACACACACCCCTT CACCCACACCCCAACACCCACACCCCCACACCCACACCCCAACACCCACA CCCCAACACCCAAACCCCTCACCCACACCCCAACACCCACACCCCAACAC CCACACCCCCACACCCACACCCCCACACCCACACCCCCACACCCACACCC CAACACCCACACCCCAACACCCACACCCCAACACCCACACCC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FARP2_chr2_241351285_241499841	241355590	A A	AGACCTAG others(215): Show AGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGA CTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGG ACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCC CAGCGAACCGACTCCCCGCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	378	0.0027	222	c.-82 others(231): Show c.-823_-822insGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCA GGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGA CTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGG ACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAG	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding		694		chr2	TogoVar
FARP2_chr2_241351285_241499841	241355590	A A	AGACCTAG others(215): Show AGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGA CTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGG ACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCC CAGCGAGCCGACTCCCCGCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0337 a0002c0002t0001g0337	1	378	0.0027	222	c.-82 others(231): Show c.-823_-822insGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCA GGACCTAGCCCCGCCCAGCGAACCGACTCCCCGCCCAGGACCTAGCCCCG CCCAGCGAGCCGACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACCGA CTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAGG ACCTAGCCCCGCCCAGCGAGCCGACTCCCCGCCCAG	FARP2	ENSG00000006607.14	transcript	ENST00000264042.8	protein_coding		694		chr2	TogoVar
FBRSL1_chr12_132485151_132590188	132555406	C C	CCCACCCG others(215): Show CCCACCCGAGCGTGAGCGTGGCCTCCACGGTAGCCGCCCCACCCGAGCGT GAGCGTGGCCTCCACGGTAGCCGCAGCACCCGAGCGTGAGCGTGGCCTCC ACGGTAGCCGCCCCACCCGAGCGTGAGCGTGGCCTCCACGGTAGCCGCCC CACCCGAGCGTGAGCGTGGCCTCCACGGTAGCCGCCCCACCCGAGCGTGA GCGTGGCCTCCACGGTAGCCGCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0080 a0007c0080	a0007c0080t0045 a0007c0080t0045	a0007c0080t0045g0073 a0007c0080t0045g0073	1	348	0.0029	222	c.645 others(239): Show c.645+7390_645+7391insGTGGCCTCCACGGTAGCCGCCCCACCCG AGCGTGAGCGTGGCCTCCACGGTAGCCGCAGCACCCGAGCGTGAGCGTGG CCTCCACGGTAGCCGCCCCACCCGAGCGTGAGCGTGGCCTCCACGGTAGC CGCCCCACCCGAGCGTGAGCGTGGCCTCCACGGTAGCCGCCCCACCCGAG CGTGAGCGTGGCCTCCACGGTAGCCGCGCCACCCGAGCGTGAGC	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	5/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATACA others(215): Show TATATACAATATATAAATATATATAAATATATACAATATATAAATATATA TAAATATATACAATATATAAATATATATAAATATATATAATATATAAATA TATATAAATATATACAATATATAAATATATATAAATATATATAATATATA AATATATATAAATATATAAATATATATAAATATATATAATATATAAATAT ATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	344	0.0029	222	c.617 others(239): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTATATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATTTATATATATTTATATATTGTATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FER1L5_chr2_96637764_96709883	96659509	C C	CTTTCTTT others(215): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0021 a0001c0004t0001g0021	1	226	0.0044	222	c.748 others(237): Show c.748-832_748-831insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52			chr2	TogoVar
FGFR4_chr5_177081915_177103144	177096905	T T	TTCCTCCT others(215): Show TTCCTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCC TCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTT CTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCT CCTTCTCCTCCTGCTCCTCTTCC	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA19009.hp2 HG04228.hp1 NA19009.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0013c0022 a0001c0001 a0013c0022	a0001c0001t0001 a0013c0022t0001 a0001c0001t0001 a0013c0022t0001	a0001c0001t0001g0032 a0013c0022t0001g0032 a0001c0001t0001g0032 a0013c0022t0001g0032	2	372	0.0054	222	c.215 others(239): Show c.2153+175_2153+176insCTCTTCCTCCTCCTCTTCCTCCTCCTCC TCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTC CTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCCTCCT CTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCTTCCTCCTCC TCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177096982	T T	TCTCTTCC others(215): Show TCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCT TCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTC CTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCC TCTTCCTCCTCCTCTTCCTCCTC	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	372	0.0027	222	c.215 others(239): Show c.2153+274_2153+275insCTCCTCCTCCTCCTCTTCCTCCTCCTCT TCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTC CTCCTCTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCT CCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCC TCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTC	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FGFR4_chr5_177081915_177103144	177097109	T T	TTCCTCCT others(215): Show TTCCTCCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCT CCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCTCCTCCTTCTCT TCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCCTC CTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCT CCTCCTCCTCCTCTTCCTCCTCC	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	372	0.0027	222	c.215 others(239): Show c.2154-173_2154-172insTCTCTTCCTCCTCCTCCTCTTCCTCCTC CTCCTCTTCCTCCTCCTCCTCTTCCTCCTTCTCCTCCTGCTCCTCTTCCT CCTCCTTCTCTTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTCC TCCTCTTCCTCCTCCTCTTCCTCCTCCTCTTCCTCCTCCTCCTCTTCCTC CTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCT	FGFR4	ENSG00000160867.15	transcript	ENST00000292408.9	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
FLT4_chr5_180596506_180654600	180616096	C C	CGGTCACC others(215): Show CGGTCACCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCCGCCGGTCA CCTCCCTTCTCCACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCC TTCTCCACTTCCTTTCGGAGCACTGGGCCCCGCTGGTCACCTCCCTTCTC CACTTCCTTTCGGAGCACTGGGCCTGCCGGTCACCTCCCTTCTCCACTTC CTTTCGGAGCACTGGGCCCCGCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0321 a0002c0003t0001g0321	1	388	0.0026	222	c.321 others(239): Show c.3219+270_3219+271insAGCGGGGCCCAGTGCTCCGAAAGGAAGT GGAGAAGGGAGGTGACCGGCAGGCCCAGTGCTCCGAAAGGAAGTGGAGAA GGGAGGTGACCAGCGGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAG GTGACCGGCAGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACC GGCGGGCCCAGTGCTCCGAAAGGAAGTGGAGAAGGGAGGTGACC	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FMO2_chr1_171180300_171217686	171211541	G G	GAAATATT others(215): Show GAAATATTTATTATTAAATTTATATCCCTAAAATTTTTAGAAATCTCTCA AAATCTTTCCAAATGTTCTGGTATCTTTGAAAAATGTAAATAGTTTATTT ATAGAGAACCCTACCTCTGAGGTTGACTCAAAGGTTAAAGAAGGCTCATC AGTCTATCCTTCTGCCTCCATATATCCTGAACATCAAACTATCCCAGGAA AACCATCTAGAGTAGTTTGTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02970.hp1 others(3): Show HG02258.hp2 HG02486.hp2 HG02970.hp1 HG03098.hp1 NA19030.hp2 NA19240.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0009 a0007c0007t0009	a0007c0007t0009g0034 a0007c0007t0009g0102 a0007c0007t0009g0103 others(2): Show a0007c0007t0009g0034 a0007c0007t0009g0102 a0007c0007t0009g0103 a0007c0007t0009g0104 a0007c0007t0009g0105	6	366	0.0164	222	c.23 others(233): Show c.2399_*2400insTATTTATTATTAAATTTATATCCCTAAAATTTTT AGAAATCTCTCAAAATCTTTCCAAATGTTCTGGTATCTTTGAAAAATGTA AATAGTTTATTTATAGAGAACCCTACCTCTGAGGTTGACTCAAAGGTTAA AGAAGGCTCATCAGTCTATCCTTCTGCCTCCATATATCCTGAACATCAAA CTATCCCAGGAAAACCATCTAGAGTAGTTTGTTTCAAA	FMO2	ENSG00000094963.14	transcript	ENST00000209929.10	protein_coding	9/9	2400	INFO_REALIGN_3_PRIME	chr1	TogoVar
FOXJ3_chr1_42171548_42340235	42222034	G G	GGGGAGGG others(215): Show GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGAGGAGGAGGAGGAGGAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	332	0.0030	222	c.528 others(239): Show c.528+5848_528+5849insTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTCCTCCTCCTCCTCCTCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
FOXN3_chr14_89151177_89422233	89361203	A A	ACCACCAC others(215): Show ACCACCACCACCACCTCCACCACTACCACCTCCACCACCACCACCTCCAG CACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCTCCACCA CCACCACCTCCACCACCTCCACCACCACCTCCACCACCACCACCTCCAGC ACCACCACCTCCAGCACCACCTCCACCACCACCTCCACCACTACCACCAC CACCACCACCTCCACCACCACCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0193 a0001c0001t0006g0193	1	230	0.0044	222	c.544 others(241): Show c.544-10396_544-10395insAGGTGGTGGTGGAGGTGGTGGTGGTG GTGGTAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGCT GGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGAGGTGGTGGTGG TGGAGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGCTG GAGGTGGTGGTGGTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGTGG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FOXP1_chr3_70949708_71588728	71396980	A A	ACACATAT others(215): Show ACACATATATATGTGTATATATATATATACACATATATATGTGTATATAT ATACATATATATATGTGTATATATATATATATACACACATATATATGTGT ATATATATATACATATATATGTGTATATATATACACATATATATGTGTAT ATATATATACACACATATATATGTGTATATATATACACATATATATGTGT ATATATATATACACATATATATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0036 a0001c0001t0008g0036	1	96	0.0104	222	c.-16 others(243): Show c.-167-37737_-167-37736insCATATATATGTGTATATATATATA CACATATATATGTGTATATATATACACATATATATGTGTGTATATATATA TACACATATATATGTGTATATATATACACATATATATGTATATATATATA CACATATATATGTGTGTATATATATATATATACACATATATATATGTATA TATATACACATATATATGTGTATATATATATATACACATATATATGTG	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71396980	A A	ACACATAT others(215): Show ACACATATATATGTGTATATATATATATACACATATATATGTGTATATAT ATACATATATATATGTGTATATATATATATATACACACATATATATGTGT ATATATATATACATATATATGTGTATATATATATACACATATATATGTGT ATATATATATACACACATATATGTGTATATATATACACATATATATGTGT ATATATATATACACATATATATG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0058 a0001c0001t0054g0058	1	96	0.0104	222	c.-16 others(243): Show c.-167-37737_-167-37736insCATATATATGTGTATATATATATA CACATATATATGTGTATATATATACACATATATGTGTGTATATATATATA CACATATATATGTGTATATATATATACACATATATATGTATATATATATA CACATATATATGTGTGTATATATATATATATACACATATATATATGTATA TATATACACATATATATGTGTATATATATATATACACATATATATGTG	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FTCD_chr21_46131779_46160579	46134701	G G	GAGGGTCA others(215): Show GAGGGTCAGGTTTAGGGTCAGGGTGAGGGTCAGGTTTAGGGTGAGGGTCA GGTTTAGGGTGAGGGTGAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGG GTCAGGGTGAGGGTCAGGTTTAGGGTCAGGGTCAGGTTTAGGGTCAGGTT TAGGGTCAGGGTCAGGGTCAGGGTCAGGTTTAGGGTGAGGGTGAGGGTGA GGGTGAGGGTGAGGGTGAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18954.hp1 NA18947.hp1 NA18954.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0005 a0001c0003t0003 a0001c0003t0005	a0001c0003t0003g0034 a0001c0003t0005g0218 a0001c0003t0003g0034 a0001c0003t0005g0218	2	230	0.0087	222	c.22 others(233): Show c.2285_*2286insGACCCTCACCCTCACCCTCACCCTCACCCTCACC CTCACCCTAAACCTGACCCTGACCCTGACCCTGACCCTAAACCTGACCCT AAACCTGACCCTGACCCTAAACCTGACCCTCACCCTGACCCTGACCCTGA CCCTAAACCTGACCCTCACCCTCACCCTCACCCTAAACCTGACCCTCACC CTAAACCTGACCCTCACCCTGACCCTAAACCTGACCCT	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding		2077		chr21	TogoVar
GABRG3_chr15_26966181_27546984	27307449	A A	ATATAGGT others(215): Show ATATAGGTTTATATATTTATATATAAACATATAGGTTTATATATTTATAT ATAAACATATAGGTTTATATATTTATATATAAACAGGTTTATAGGTTTAT ATATTTATATATAAACATAGGTTTATAGGTTTATATATTTATATATAAAC AGGTTTATAGGTTTATATATTTATATATAAACATAGGTTTATAGGTTTAT ATATTTATATATAAACATAGGTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0019 a0001c0002t0035g0019	1	92	0.0109	222	c.271 others(241): Show c.271-19330_271-19329insTAGGTTTATATATTTATATATAAACA TATAGGTTTATATATTTATATATAAACAGGTTTATAGGTTTATATATTTA TATATAAACATAGGTTTATAGGTTTATATATTTATATATAAACAGGTTTA TAGGTTTATATATTTATATATAAACATAGGTTTATAGGTTTATATATTTA TATATAAACATAGGTTTATAGGTTTATATATTTATATATAAACATA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27397263	T T	TGCAATTT others(215): Show TGCAATTTTAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0072 a0001c0001t0021g0072	1	92	0.0109	222	c.574 others(241): Show c.574+68389_574+68390insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGCAATTTTAGTTTT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GAK_chr4_844277_937316	927321	G G	GCACCCCT others(215): Show GCACCCCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTTCCCG CTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTC CGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCCGC ACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGCT CACCTGCCCTCCGCACTGCCCCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0166 a0001c0005t0001g0166	1	390	0.0026	222	c.145 others(239): Show c.145+4721_145+4722insTGGGGCAGTGCGGAGGGCAGGTGAGCCG GGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGGGTGCGGG GCAGTGCGGAGCGCAGGTGAGCCGGGAGGGGTGTGGGGCAGTGCGGACTG CAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGA AGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927344	G G	GTCCCCAC others(215): Show GTCCCCACTGCCTCGCACCCCTCCCCGCTCACCTGCAGTCCCCACTGCCC CGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCACACCCCTCCCG GCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCAGT CCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCCCTCCGCACTGCCCCA CACCCCTCCCGGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG03041.hp1 others(5): Show HG01884.hp2 HG02055.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03516.hp2 NA19043.hp1 NA20129.hp2	a0001 a0006 a0019 a0001 a0006 a0019	a0001c0002 a0006c0013 a0019c0040 a0001c0002 a0006c0013 a0019c0040	a0001c0002t0001 a0006c0013t0001 a0019c0040t0001 a0001c0002t0001 a0006c0013t0001 a0019c0040t0001	a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0269 others(5): Show a0001c0002t0001g0265 a0001c0002t0001g0267 a0001c0002t0001g0269 a0006c0013t0001g0266 a0006c0013t0001g0270 a0006c0013t0001g0271 a0006c0013t0001g0279 a0019c0040t0001g0268	8	390	0.0205	222	c.145 others(239): Show c.145+4698_145+4699insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGAGGGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGA GGGGTGTGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCA GTGGGGACTGCAGGTGAGCGGGGAGGGGTGCGAGGCAGTGGGGA	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALNT9_chr12_132191372_132334589	132241808	G G	GGGGCCCT others(215): Show GGGGCCCTCCCTATACCCATTTACACACATGCCACGCCCCCTTCCCGGGG CCCTCCGTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTC CCTATACCCATTACACACACACCACACCCCCTTCCCAGGGCCCTCCCTAT ACCCATTACACACACCACACACCCTTCCCGGGGCCCTCCCTATACCCATT ACACACACCACACACCCTTCCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG02027.hp1 others(5): Show HG00408.hp1 HG00408.hp2 HG02027.hp1 HG02683.hp1 HG02698.hp1 NA18964.hp2 NA18999.hp2 NA19002.hp2	a0001 a0005 a0001 a0005	a0001c0011 a0001c0013 a0001c0020 others(2): Show a0001c0011 a0001c0013 a0001c0020 a0001c0039 a0005c0033	a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 others(2): Show a0001c0011t0001 a0001c0013t0004 a0001c0020t0001 a0001c0039t0006 a0005c0033t0001	a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0116 others(5): Show a0001c0011t0001g0057 a0001c0011t0001g0065 a0001c0011t0001g0116 a0001c0011t0001g0129 a0001c0013t0004g0095 a0001c0020t0001g0115 a0001c0039t0006g0001 a0005c0033t0001g0114	8	183	0.0437	222	c.107 others(241): Show c.1077+6101_1077+6102insAGGGAAGGGTGTGTGGTGTGTGTAAT GGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGTGTGTGTAATGGGTATA GGGAGGGCCCTGGGAAGGGGGTGTGGTGTGTGTGTAATGGGTATAGGGAG GGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATACGGAGGGCCC CGGGAAGGGGGCGTGGCATGTGTGTAAATGGGTATAGGGAGGGCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GAP43_chr3_115618510_115726483	115698114	T T	TCTTATAT others(215): Show TCTTATATATAATATATAATATATATAAAATATATCTTATATATAATATA TAATATATATAAAATATATCTTATATATAATATATAATATATATAAAATA TATCTTATATATAATATATAATATATATAAAATATATATTATATATAATA TATAATATATATAAAATATATATTATATATAATATATAATATATATAAAA TATATATTATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	352	0.0028	222	c.628 others(241): Show c.628+21504_628+21505insCTTATATATAATATATAATATATATA AAATATATCTTATATATAATATATAATATATATAAAATATATCTTATATA TAATATATAATATATATAAAATATATCTTATATATAATATATAATATATA TAAAATATATATTATATATAATATATAATATATATAAAATATATATTATA TATAATATATAATATATATAAAATATATATTATATATAATATATAA	GAP43	ENSG00000172020.13	transcript	ENST00000305124.11	protein_coding	2/2			chr3	TogoVar
GMDS_chr6_1618806_2250605	1652417	A A	ATTTATAT others(215): Show ATTTATATATAATATATATCATTTATATATAATATATAATATATATTATA TATAATATATATCATTTATATATAATATATTATATATATTATATATAATA TATTATATATATTATATATAATATATTATATATATTATATATAATATATT ATATATATTATATATAATATATTATATATATTATATATAATATATTATAT ATATTATATATAATATATTATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	166	0.0060	222	c.988 others(241): Show c.988-27878_988-27877insATATAATATATTATATATAATATATA TAATATATTATATATAATATATATAATATATTATATATAATATATATAAT ATATTATATATAATATATATAATATATTATATATAATATATATAATATAT TATATATAATATATATAATATATTATATATAAATGATATATATTATATAT AATATATATTATATATTATATATAAATGATATATATTATATATAAA	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GNA11_chr19_3089362_3128999	3115865	T T	TGAGTGGG others(215): Show TGAGTGGGGAGGAGGGGTCATAGGGACTGAGGCTGTGAGGGGAGGAGGGG TCATAGGGGCCGAGGCTGTCAGGGAAGAGGGGTCATGGGGACCGAGGCTG TGAGGGGAGGAGGGGTCATAGGGGCCGAGGCTGTCAGGGAAGAGGGGTCA TGGGGACCGAGGCTGTGAGGGGAGGAGGGGTCATAGGGGCCGAGGCTGTC AGGGAAGAGGGGTCATGGGGACC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0114 a0001c0001t0080g0114	1	425	0.0024	222	c.605 others(237): Show c.605+796_605+797insTGGGGAGGAGGGGTCATAGGGACTGAGGCT GTGAGGGGAGGAGGGGTCATAGGGGCCGAGGCTGTCAGGGAAGAGGGGTC ATGGGGACCGAGGCTGTGAGGGGAGGAGGGGTCATAGGGGCCGAGGCTGT CAGGGAAGAGGGGTCATGGGGACCGAGGCTGTGAGGGGAGGAGGGGTCAT AGGGGCCGAGGCTGTCAGGGAAGAGGGGTCATGGGGACCGAG	GNA11	ENSG00000088256.9	transcript	ENST00000078429.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TATACATA others(215): Show TATACATACACATATGTTCATATATATATATGTTCATATATATGTTCATA TATATATGTTCATATATATGTATGTTCATATATATATGTACATATATATG TTCATATATGTATGTTCATATATATATGTACATATATATGTTCATATATA TATGTTCATATATATATGTACATATATATGTTCATATATATATGTTCATA TATATATGTTCATATATATGTTC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0137 a0001c0001t0008g0137	1	234	0.0043	222	c.143 others(239): Show c.143+2187_143+2188insCATACACATATGTTCATATATATATATG TTCATATATATGTTCATATATATATGTTCATATATATGTATGTTCATATA TATATGTACATATATATGTTCATATATGTATGTTCATATATATATGTACA TATATATGTTCATATATATATGTTCATATATATATGTACATATATATGTT CATATATATATGTTCATATATATATGTTCATATATATGTTCATA	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
GPHN_chr14_66503147_67186803	66683369	T T	TGTTCATA others(215): Show TGTTCATATATATATATGTTCATATATATGTTCATATATATATGTTCATA TATATGTATGTTCATATATATATGTACATATATATGTTCATATATGTATG TTCATATATATATGTACATATATATGTTCATATATGTATGTTCATATATA TATGTACATATATATGTTCATATATATATGTTCATATATATGTTCATATA TATATGTTCATATATATATGTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG03491.hp1 others(4): Show HG00408.hp1 HG00597.hp1 HG03491.hp1 NA18941.hp2 NA18984.hp1 NA19011.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0108 a0001c0001t0001g0205 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0108 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0222	7	234	0.0299	222	c.143 others(239): Show c.143+2184_143+2185insGTTCATATATATATATGTTCATATATAT GTTCATATATATATGTTCATATATATGTATGTTCATATATATATGTACAT ATATATGTTCATATATGTATGTTCATATATATATGTACATATATATGTTC ATATATGTATGTTCATATATATATGTACATATATATGTTCATATATATAT GTTCATATATATGTTCATATATATATGTTCATATATATATGTTC	GPHN	ENSG00000171723.16	transcript	ENST00000478722.6	protein_coding	2/22			chr14	TogoVar
GPR146_chr7_1039546_1064261	1059740	G G	GGTCCGTA others(215): Show GGTCCGTAGTGAGGCAGGTCTTAGGTGGGTCCGTAGTGGGGCGAGTCCGT AGTGAGGCAGGTCTTAGTGGGGCGGGTCCGTAATGAGGCGGGTCTTAGGC GGGTCCATAGTGAGGCGGGTCCGTAGTGGGGCGGGTCGGTAGTGAGGTGG GTCTTAGCGGGGCGGGTCTTAGGGGGGCGGGTCCGTAGTGAGGCAGGTCT TAGGTGGGTCCGTAGTGGGGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0055 a0002c0003t0004g0055	1	434	0.0023	222	c.12 others(233): Show c.1223_*1224insGTCCGTAGTGAGGCAGGTCTTAGGTGGGTCCGTA GTGGGGCGAGTCCGTAGTGAGGCAGGTCTTAGTGGGGCGGGTCCGTAATG AGGCGGGTCTTAGGCGGGTCCATAGTGAGGCGGGTCCGTAGTGGGGCGGG TCGGTAGTGAGGTGGGTCTTAGCGGGGCGGGTCTTAGGGGGGCGGGTCCG TAGTGAGGCAGGTCTTAGGTGGGTCCGTAGTGGGGCGA	GPR146	ENSG00000164849.10	transcript	ENST00000444847.2	protein_coding		480		chr7	TogoVar
GPR157_chr1_9095305_9134102	9116180	T T	TTATATAT others(215): Show TTATATATATAATATAATTATATATATTTATATTATATATTATATATAAT ATAATTATATATAATTATATTATATATATATTATATTATATATAATTATA TATAATTATATATATTATATGTAATATAAATATATATAATTATATTATAT ATATTATATGTAATATAATTATATATATTTATATTATATATTATATATAA TATAATTATATATATAATTATAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01256.hp2 HG01258.hp1 others(2): Show HG01192.hp1 HG01256.hp2 HG01258.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0283 a0001c0001t0009g0284 a0001c0001t0009g0285 others(2): Show a0001c0001t0009g0283 a0001c0001t0009g0284 a0001c0001t0009g0285 a0001c0001t0009g0286 a0001c0001t0009g0287	5	404	0.0124	222	c.384 others(239): Show c.384-4692_384-4691insTTATAATTATATATATAATTATATTATA TATAATATATAATATAAATATATATAATTATATTACATATAATATATATA ATATAATTATATATATTTATATTACATATAATATATATAATTATATATAA TTATATATAATATAATATATATATAATATAATTATATATAATTATATTAT ATATAATATATAATATAAATATATATAATTATATTATATATATA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116180	T T	TTATATAT others(215): Show TTATATATATAATATAATTATATATATTTATATTATATATTATATATAAT ATAATTATATATAATTATATTATATATATTATATTATATATAATTATATA TAATTATATATATATTATATGTAATATAAATATATATAATTATATTATAT ATATTATATGTAATATAATTATATATATTTATATTATATATTATATATAA TATAATTATATATATAATTATAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03239.hp2 HG03831.hp2 HG01255.hp2 HG03239.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0313 a0001c0001t0003g0017 a0001c0001t0003g0313	3	404	0.0074	222	c.384 others(239): Show c.384-4692_384-4691insTTATAATTATATATATAATTATATTATA TATAATATATAATATAAATATATATAATTATATTACATATAATATATATA ATATAATTATATATATTTATATTACATATAATATATATATAATTATATAT AATTATATATAATATAATATATATAATATAATTATATATAATTATATTAT ATATAATATATAATATAAATATATATAATTATATTATATATATA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116182	A A	ATATATAA others(215): Show ATATATAATATAATTATATATATTTATATTATATATATTATATATAATTA TATATAATATATTATATATTATATGTAATATAAATATATATAATTATATT ATATATATTATATGTAATATAATTATATATATTTATATTATATATTATAT ATAATATAATTATATATATAATTATAATATATATTATATATAATATAATT ATATATATAATTATAATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0014 a0003c0012t0014	a0003c0012t0014g0330 a0003c0012t0014g0330	1	404	0.0025	222	c.384 others(239): Show c.384-4694_384-4693insATATATATTATAATTATATATATAATTA TATTATATATAATATATATTATAATTATATATATAATTATATTATATATA ATATATAATATAAATATATATAATTATATTACATATAATATATATAATAT AATTATATATATTTATATTACATATAATATATAATATATTATATATAATT ATATATAATATATATAATATAAATATATATAATTATATTATATA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116292	A A	ATTATATT others(215): Show ATTATATTATATATAATATATATAATTATATTATATATTATATGTAATAT AAATATATATAATTATATTATATATATTATATGTAATATAATTATATATA TTTATATTATATATTATATATAATATAATTATATATATAATTATAATATA TATTATATATAATATAATTATATATATAATTTATATATTATATATAATAT AATTATAGATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0070 a0001c0001t0006g0070	1	404	0.0025	222	c.384 others(239): Show c.384-4804_384-4803insATATATATATTATATCTATAATTATATT ATATATAATATATAAATTATATATATAATTATATTATATATAATATATAT TATAATTATATATATAATTATATTATATATAATATATAATATAAATATAT ATAATTATATTACATATAATATATATAATATAATTATATATATTTATATT ACATATAATATATAATATAATTATATATATTATATATAATATAA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRHL1_chr2_9946693_10007277	9998449	T T	TGTGTGTG others(215): Show TGTGTGTGTATATACACATATATATACGTATATATACACATATATATACG TATATATACACATATATATACGTATATATACACATATATATACGTATATA TACACATATATATACGTATATATACACATATATATACGTATATATACACA TATATATACGTATATATACACATATATATACGTATATATACACATATATA TACGTATATATACACATATATAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0042 a0004c0004t0005g0042	1	418	0.0024	222	c.167 others(239): Show c.1678-516_1678-515insGTGTGTGTATATACACATATATATACGT ATATATACACATATATATACGTATATATACACATATATATACGTATATAT ACACATATATATACGTATATATACACATATATATACGTATATATACACAT ATATATACGTATATATACACATATATATACGTATATATACACATATATAT ACGTATATATACACATATATATACGTATATATACACATATATAC	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15			chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998514	A A	ATATATAC others(215): Show ATATATACGTGTATATACGTATATATATACATATATATACGTGTATATAC GTATATATATACATATATATACGTGTATATACGTATATATATACGTATAT ATATACATATATACGTATATATATACGTATATATATACATATATACGTAT ATATATACGTATATATACACATATATACGTATATATATACGTATATATAT ACGTATATATATACATATATACG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	418	0.0024	222	c.167 others(239): Show c.1678-445_1678-444insCGTGTATATACGTATATATATACATATA TATACGTGTATATACGTATATATATACATATATATACGTGTATATACGTA TATATATACGTATATATATACATATATACGTATATATATACGTATATATA TACATATATACGTATATATATACGTATATATACACATATATACGTATATA TATACGTATATATATACGTATATATATACATATATACGTATATA	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRHL1_chr2_9946693_10007277	9998681	C C	CATATATA others(215): Show CATATATATATGTACACATATATACATATATATGTACACATATATATACA TATATATATGTACACATATATACATATATATGTACACATATATACATATA TATGTACACATATATACATATATATGTACACACATATATACATATATATG TACACACATATATACGTATATATATGTACACACATATATATACGTATATA TATGTACACACATATATATACGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0041 a0004c0004t0005g0041	1	418	0.0024	222	c.167 others(239): Show c.1678-276_1678-275insATGTACACATATATACATATATATGTAC ACATATATATACATATATATATGTACACATATATACATATATATGTACAC ATATATACATATATATGTACACATATATACATATATATGTACACACATAT ATACATATATATGTACACACATATATACGTATATATATGTACACACATAT ATATACGTATATATATGTACACACATATATATACGTATATATAT	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GSE1_chr16_85608322_85681200	85653216	C C	CTCCCCCC others(215): Show CTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCC CTCCTCCTCCCCCCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCC TCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCC TCCTCCTCCCCCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0190 a0001c0001t0004g0190	1	290	0.0035	222	c.427 others(239): Show c.427-1062_427-1061insTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCTTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCTTCCCCCCTCCTC CCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCT CCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCT	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15			chr16	TogoVar
GTPBP6_chrX_299759_323796	323559	T T	TGTGTGTG others(215): Show TGTGTGTGTGTAGCCGTCAGTCTCCTGGGCTCCTGGGTTCCGTCTGCCCT GTTCATAGAGATGGAATGAGGGCGTCCCCAGGTGGTGAGCTCAGGGATGT TTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTAGCCGTCAATCTCC TGGGCTCCTGGGTTCCGTCTGCCCTGTTCATAGAGATGGAATGAGGGCGT CCCCAGGTGGTGAGCTCAGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0003 a0007c0011t0003	a0007c0011t0003g0142 a0007c0011t0003g0142	1	155	0.0065	222	c.-47 others(233): Show c.-4773_-4772insGTCCCTGAGCTCACCACCTGGGGACGCCCTCATT CCATCTCTATGAACAGGGCAGACGGAACCCAGGAGCCCAGGAGATTGACG GCTACACACACAGACACACACACACACACACACACACAAACATCCCTGAG CTCACCACCTGGGGACGCCCTCATTCCATCTCTATGAACAGGGCAGACGG AACCCAGGAGCCCAGGAGACTGACGGCTACACACACAC	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		4764		chrX	TogoVar
HEATR6_chr17_60036008_60083921	60042454	T T	TGTCAGCA others(215): Show TGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTC GCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGG CTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTG TCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGC GTCCTGTGCGGCTGTGAGGCACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0035 a0001c0001t0029g0078 a0001c0001t0029g0035 a0001c0001t0029g0078	2	250	0.0080	222	c.11 others(233): Show c.1108_*1109insGGTGCCTCACAGCCGCACAGGACGCGAGGATGCT GACAGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGACAGTGCCTCAC AGCCGCACAGGACGCGAGGATGCTGACGGTGCCTCACAGCCGCACAGGAC GCGAGGATGCTGACGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGA CAGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGAC	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	1108		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042472	C C	CTGTGCGG others(215): Show CTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGGCTGTG AGGCACCGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCGTCAGC ATCCTCGCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCT GTGCGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAG GCACCGTCAGCATCCTCGCGTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0104 a0001c0001t0050g0104	1	250	0.0040	222	c.10 others(233): Show c.1090_*1091insAGACGCGAGGATGCTGACGGTGCCTCACAGCCGC ACAGGACGCGAGGATGCTGACAGTGCCTCACAGCCGCACAGGACGCGAGG ATGCTGACGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGACGGTGC CTCACAGCCGCACAGGACGCGAGGATGCTGACGGTGCCTCACAGCCGCAC AGGACGCGAGGATGCTGACGGTGCCTCACAGCCGCACA	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	1090		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042528	T T	TGTCAGCA others(215): Show TGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTC GCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGG CTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCG TCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGC GTCCTGTGCGGCTGTGAGGCACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01258.hp2 HG02040.hp2 NA19056.hp2 others(2): Show HG01258.hp2 HG02040.hp2 NA19056.hp2 NA19074.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0043 a0001c0001t0013g0089 a0001c0001t0013g0095 others(2): Show a0001c0001t0013g0043 a0001c0001t0013g0089 a0001c0001t0013g0095 a0001c0001t0013g0100 a0001c0001t0013g0108	5	250	0.0200	222	c.10 others(233): Show c.1034_*1035insGGTGCCTCACAGCCGCACAGGACGCGAGGATGCT GACAGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGACGGTGCCTCAC AGCCGCACAGGACGCGAGGATGCTGACAGTGCCTCACAGCCGCACAGGAC GCGAGGATGCTGACAGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGA CGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGAC	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	1034		chr17	TogoVar
HEATR6_chr17_60036008_60083921	60042528	T T	TGTCAGCA others(215): Show TGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTC GCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGCGTCCTGTGCGG CTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTG TCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACCGTCAGCATCCTCGC GTCCTGTGCGGCTGTGAGGCACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0071 a0001c0009t0071	a0001c0009t0071g0223 a0001c0009t0071g0223	1	250	0.0040	222	c.10 others(233): Show c.1034_*1035insGGTGCCTCACAGCCGCACAGGACGCGAGGATGCT GACGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGACAGTGCCTCAC AGCCGCACAGGACGCGAGGATGCTGACAGTGCCTCACAGCCGCACAGGAC GCGAGGATGCTGACGGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGA CAGTGCCTCACAGCCGCACAGGACGCGAGGATGCTGAC	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	1034		chr17	TogoVar
HIVEP3_chr1_41501365_41923922	41544847	C C	CACCACCA others(215): Show CACCACCATCACCACCACTACCACTACCTCTACCTCCACTACCACCACCA CCACCTCTACCACCACTGCTACCATCACCACCACCACCACTACCACCTGT ACCACCACTGCTACCATCACCACCACTACCACCACCATCACCACCACTAC CACTACCTCTACCTCCACTGCTACCATCACCACCACCACTACCACCTCTA CCACCACCATCACCACCACCACT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0051 a0003c0007t0006g0051	1	134	0.0075	222	c.520 others(243): Show c.5208-19938_5208-19937insAGTGGTGGTGGTGATGGTGGTGGT AGAGGTGGTAGTGGTGGTGGTGATGGTAGCAGTGGAGGTAGAGGTAGTGG TAGTGGTGGTGATGGTGGTGGTAGTGGTGGTGATGGTAGCAGTGGTGGTA CAGGTGGTAGTGGTGGTGGTGGTGATGGTAGCAGTGGTGGTAGAGGTGGT GGTGGTGGTAGTGGAGGTAGAGGTAGTGGTAGTGGTGGTGATGGTGGT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HMCN2_chr9_130260760_130439123	130315358	T T	TTCCTTTC others(215): Show TTCCTTTCCTTCACCTCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCCTCC CCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCTTT CCTTCACCTCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCC TCCCCTTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCCTC CCCTTCCCCTCCCCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02622.hp2 HG02922.hp2 others(3): Show HG01943.hp1 HG02622.hp2 HG02922.hp2 HG02970.hp2 HG03195.hp1 HG03516.hp2	a0002 a0016 a0017 others(3): Show a0002 a0016 a0017 a0044 a0074 a0077	a0002c0112 a0016c0164 a0017c0135 others(3): Show a0002c0112 a0016c0164 a0017c0135 a0044c0168 a0074c0106 a0077c0165	a0002c0112t0001 a0016c0164t0002 a0017c0135t0002 others(3): Show a0002c0112t0001 a0016c0164t0002 a0017c0135t0002 a0044c0168t0002 a0074c0106t0001 a0077c0165t0002	a0002c0112t0001g0070 a0016c0164t0002g0255 a0017c0135t0002g0239 others(3): Show a0002c0112t0001g0070 a0016c0164t0002g0255 a0017c0135t0002g0239 a0044c0168t0002g0238 a0074c0106t0001g0069 a0077c0165t0002g0220	6	258	0.0233	222	c.235 others(241): Show c.2351-4137_2351-4136insTCCTTTCCTTCACCTCCCCTTCCCCT CCCCTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCTTCCTTTCCTTCACCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTTCCCC TCCCCTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTCCCCTCCC	HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	15/97			chr9	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(215): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATATTTTATTTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0007 a0007	a0007c0019 a0007c0019	a0007c0019t0042 a0007c0019t0042	a0007c0019t0042g0182 a0007c0019t0042g0182	1	394	0.0025	222	c.41- others(237): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA ATAAAATATAAAATAAAATAAAATAAAATAAAATAAAATAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HPCAL1_chr2_10297904_10432604	10399214	C C	CCACCACC others(215): Show CCACCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCATCA CCACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	314	0.0032	222	c.-25 others(239): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CATCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCA CCACCACCACCACCACCATCACCACCATCACCACCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399313	C C	CCATCACC others(215): Show CCATCACCACCACCACCATCACCATCATCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCA CCATCACCACCACCACCATCACCATCATCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0152 a0001c0004t0004g0152	1	314	0.0032	222	c.-25 others(239): Show c.-25+2395_-25+2396insTCACCACCACCACCATCACCATCATCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACC ACCATCACCACCACCACCACCATCACCACCACCACCATCACCATCATCAC CACCACCACCACCACCATCACCACCACCACCACCACCACCATCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HSD17B14_chr19_48808018_48841491	48834509	T T	TGAGGAAG others(215): Show TGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGG GCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCG AGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGC TGGGAGCCTGGACTCCTGGGTCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA18970.hp2 HG00639.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0202 a0001c0001t0001g0203	2	394	0.0051	222	c.128 others(237): Show c.128-152_128-151insGGACCCAGGAGTCCAGGCTCCCAGCCCTTC CTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCC AGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCC CCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCT CCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTC	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834897	G G	GGCCTGGA others(215): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGG TCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGG GTCTGAGGGAGGAGGGGCTGGGA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	394	0.0025	222	c.128 others(237): Show c.128-540_128-539insTCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGC CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAAGCCCCTCCTCCCTC AGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTC CAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGC	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834925	A A	AGGGCTGG others(215): Show AGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGT CCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAG GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTG GACTCCTGGGTCTGAGGGAGGAG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0363 a0002c0003t0001g0363	1	394	0.0025	222	c.128 others(237): Show c.128-568_128-567insCTCCTCCCTCAGACCCAGGAGTCCAGGCTC CCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTC CCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGG AGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCC AGGCCCTACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGCCC	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar

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