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
RAB11FIP3_chr16_420649_528011	468218	G G	GCAGGGGC others(376): Show GCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGG AGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGG GGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02723.hp2 others(7): Show HG01243.hp1 HG02280.hp1 HG02723.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG06807.hp1 NA18522.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 others(5): Show a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0001t0032 a0001c0001t0036 a0001c0002t0009 a0001c0002t0039 a0001c0002t0045	a0001c0001t0015g0038 a0001c0001t0018g0043 a0001c0001t0023g0039 others(7): Show a0001c0001t0015g0038 a0001c0001t0018g0043 a0001c0001t0023g0039 a0001c0001t0032g0164 a0001c0001t0036g0045 a0001c0002t0009g0040 a0001c0002t0009g0041 a0001c0002t0009g0261 a0001c0002t0039g0037 a0001c0002t0045g0042	10	287	0.0348	383	c.809 others(400): Show c.809-3076_809-3075insAGGGGCGTCAGGGAGGAGATGCTGGGAC GTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTG CTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAG GGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGA GGTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468230	G G	GGGAGGAG others(376): Show GGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTC AGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAG GAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCATCAGGGAGGAGGTGCTG GGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0142 a0001c0001t0014g0142	1	202	0.0050	383	c.809 others(400): Show c.809-3058_809-3057insATGCTGGGACGTCAGGGAGGAGGTCCTT GGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGA GGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCT GGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCATCA GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGG AGGAG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468240	G G	GCAGGGGC others(376): Show GCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGG GCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCA GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGG AGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGG GGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCTGGGGCATCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0167 a0001c0002t0002g0167	1	245	0.0041	383	c.809 others(400): Show c.809-3054_809-3053insAGGGGCGTCAGGGAGGAGATGCTGGGAC GTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTC CTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGT CAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCATCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGA GGTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RECQL4_chr8_144506288_144522833	144513747	T T	TGAGGAGG others(376): Show TGAGGAGGGGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGG GAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCT GGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0203 a0002c0002t0001g0203	1	410	0.0024	383	c.205 others(398): Show c.2059-36_2059-35insTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCCCACC GCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC ACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACGCCGACCCCTC CTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(376): Show AATATATATATATTATTTAAATATATATATATTTAAAAATATATATATTA AAAATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATT ATATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAA TATATATCTTTAAATATATATTAATATATATTTAAAGATATATATTAAAT TATATATATTAAAATATGTATATTAATATATATTTAAATTATATAATTTA AATATACATATTTAAAGATATATATATTTAAATATATATATTTTTAATAT ATATATTTTTAAATATATATATTTATATATATATTTTTATATATATATAT TTATATATATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	6	0.1667	383	c.182 others(400): Show c.182-2708_182-2707insATTATTTAAATATATATATATTTAAAAA TATATATATTAAAAATATATATATTTAAATATATATATCTTTAAATATGT ATATTTAAATTATATAATTTAAATATATATTAATATACATATTTTAATAT ATATAATTTAATATATATCTTTAAATATATATTAATATATATTTAAAGAT ATATATTAAATTATATATATTAAAATATGTATATTAATATATATTTAAAT TATATAATTTAAATATACATATTTAAAGATATATATATTTAAATATATAT ATTTTTAATATATATATTTTTAAATATATATATTTATATATATATTTTTA TATATATATATTTATATATATATTTTTAAATATATATATATATTTATATA TATAT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(376): Show AATATATATATTTAAATATATATATCTTTAAATATGTATATTTAAATTAT ATAATTTAAATATATATTAATATACATATTTTAATATATATAATTTAATA TATATCTTTAAATATATATTAATATATATTTAAATATATATTAATATATA TTTAAAGATATATATTAAATTATATATATTAAAATATGTATATTAATATA TATTTAAATTATATAATTTAAATATACATATTTAAAGATATATATATTTA AATATATATATTTTTAATATATATATTTTTAAATATATATATATTTATAT ATATATTTTTATATATATATATTTATATATATATTTTTATATATATATAT TTATATATATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01975.hp1 HG02273.hp1 others(3): Show HG01257.hp1 HG01975.hp1 HG02273.hp1 HG02293.hp2 NA18986.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0101 a0001c0001t0001g0014 a0001c0001t0001g0101	6	11	0.5455	383	c.182 others(400): Show c.182-2703_182-2702insTATATATATCTTTAAATATGTATATTTA AATTATATAATTTAAATATATATTAATATACATATTTTAATATATATAAT TTAATATATATCTTTAAATATATATTAATATATATTTAAATATATATTAA TATATATTTAAAGATATATATTAAATTATATATATTAAAATATGTATATT AATATATATTTAAATTATATAATTTAAATATACATATTTAAAGATATATA TATTTAAATATATATATTTTTAATATATATATTTTTAAATATATATATAT TTATATATATATTTTTATATATATATATTTATATATATATTTTTATATAT ATATATTTATATATATATTTTTAAATATATATATATATTTATATATATAT TTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF17_chr13_24759169_24884921	24881816	C C	CTATATAG others(376): Show CTATATAGATGCATCTATATATCTATATAGATGCATCTATATATCTATAT ATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATATATA GATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATATACATCTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATAGATACATCTATATATATAGATACATCTATATAGATATATA GATACATCTATATATATAGATACATCTATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0321 a0009c0012t0001g0321	1	379	0.0026	383	c.20 others(394): Show c.2090_*2091insTATATAGATGCATCTATATATCTATATAGATGCA TCTATATATCTATATATAGATATATAGATGCATCTATATAGATATATAAT CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT ATAGATACATCTATATAGATATATATACATCTATATAGATATATAGATAC ATCTATATAGATATATAGATACATCTATATAGATACATCTATATAGATAT ATAGATACATCTATATAGATATATAGATACATCTATATATATAGATACAT CTATATAGATATATAGATACATCTATATATATAGATACATCTATATAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1896		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881816	C C	CTATATAG others(376): Show CTATATAGATGCATCTATATATCTATATAGATGCATCTATATATCTATAT ATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATATATA GATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATATACATCTATATA GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATACA TCTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATA TATATAGATACATCTATATAGATATATAGATACATCTATATATATAGATA CATCTATATAGATATATAGATACATCTATATAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0320 a0009c0012t0001g0320	1	379	0.0026	383	c.20 others(394): Show c.2090_*2091insTATATAGATGCATCTATATATCTATATAGATGCA TCTATATATCTATATATAGATATATAGATGCATCTATATAGATATATAAT CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT ATATACATCTATATAGATATATAGATACATCTATATAGATATATAGATAC ATCTATATAGATACATCTATATAGATATATAGATACATCTATATAGATAT ATAGATACATCTATATATATAGATACATCTATATAGATATATAGATACAT CTATATATATAGATACATCTATATAGATATATAGATACATCTATATAGA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1896		chr13	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAACAT others(376): Show TATAACATATAATATATAATATATATTATATATAATATATTATATATAAT ATATTATATATTATATATAATATATATTATATATTATATATAATATAATA TATATTATATATAATATATAATATATATTATATGTTATATATAATATATA TTATATGTTATATATAATATATATTTATATGTTATATATAATATATAATA TATATTATATATAATATATAATATATATTACATATAATATATAATATATA TTATATATTATATATTATATATTATATATAATATATATTATATATTATAT ATAATATATAAATATATATTATATATATTTAATATATATTTTATATATAA ATATATATTATATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0054 a0001c0001t0004g0054	1	29	0.0345	383	c.193 others(402): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA ATATATATTTATATATAAAATATATATTAAATATATATAATATATATTTA TATATTATATATAATATATAATATATATTATATATAATATATAATATATA ATATATAATATATATTATATATTATATGTAATATATATTATATATTATAT ATAATATATATTATATATTATATATAACATATAAATATATATTATATATA ACATATAATATATATTATATATAACATATAATATATATTATATATTATAT ATAATATATATTATATTATATATAATATATAATATATATTATATATAATA TATAATATATTATATATAATATATTATATATAATATATATTATATATTAT ATGTTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SAMD12_chr8_118372984_118626963	118469545	T T	TATAACAT others(376): Show TATAACATATAATATATAATATATATTATATATAATATATTATATATAAT ATATTATATATTATATATAATATATATTATATATTATATATAATATAATA TATATTATATGTTATATATAATATATATTATATGTTATATATAATATATA TTATATGTTATATATAATATATATTTATATGTTATATATAATATATATTA TATATTATATATAATATATAATATATATTACATATAATATATAATATATA TTATATATTATATATTATATATTATATATAATATATATTATATATTATAT ATAATATATAAATATATATTATATATATTTAATATATATTTTATATATAA ATATATATTATATATATAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	29	0.0345	383	c.193 others(402): Show c.193-29585_193-29584insTATATAAAATATATATTATATATATA ATATATATTTATATATAAAATATATATTAAATATATATAATATATATTTA TATATTATATATAATATATAATATATATTATATATAATATATAATATATA ATATATAATATATATTATATATTATATGTAATATATATTATATATTATAT ATAATATATAATATATATTATATATAACATATAAATATATATTATATATA ACATATAATATATATTATATATAACATATAATATATATTATATATAACAT ATAATATATATTATATTATATATAATATATAATATATATTATATATAATA TATAATATATTATATATAATATATTATATATAATATATATTATATATTAT ATGTTAT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SCGB1C2_chr17_132569_144067	141440	A A	ACATGGTG others(376): Show ACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGACCTGGTGA GGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGT GAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACA TGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGAC CTTGGTGAGGAGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGG GACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGA GGAGGACCTGGTGAGGGGAACATGGGGGGGACCTTGGTGAGGAGGACCTG GTGAGGGGAACATGGGTGGGACCTGGTGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00280.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	2	147	0.0136	383	c.24 others(394): Show c.2498_*2499insCATGGTGAGGGGAGCATGGTGAGGAGGACCTGGT GAGGGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTG GTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGAC CTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGG GAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACCTGGTGA GGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGG GTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGGGGGACCTT GGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTGGTGAGGAGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2374		chr17	TogoVar
SCGB1C2_chr17_132569_144067	141440	A A	ACATGGTG others(376): Show ACATGGTGAGGGGAGCATGGTGAGGAGGACCTGGTGAGGGGACTTGGTGA GGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGT GAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACA TGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGAC CTTGGTGAGGAGGACCTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGG GACCTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGA GGAGGACCTGGTGAGGGGAACATGGGGGGGACCTTGGTGAGGAGGACCTG GTGAGGGGAACATGGGTGGGACCTGGTGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	146	0.0068	383	c.24 others(394): Show c.2498_*2499insCATGGTGAGGGGAGCATGGTGAGGAGGACCTGGT GAGGGGACTTGGTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTG GTGAGGGGACCTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGAC CTGGTGAGGGGAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGG GAACATGGGTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGACCTGGTGA GGGGAACATGGGTGGGACCTTGGTGAGGGGACCTGGTGAGGGGAACATGG GTGGGACCTTGGTGAGGAGGACCTGGTGAGGGGAACATGGGGGGGACCTT GGTGAGGAGGACCTGGTGAGGGGAACATGGGTGGGACCTGGTGAGGAGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2374		chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(376): Show TTGGGTGAGGGGGGTGGGGTCGGGGGGGGGGTTGAGTGAGGGGGGTGGGG GGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGG GGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTG AGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAG GGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG TGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGG TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGAGTGAGGGGGTTGGGGTGTTGGGTGAGGGGGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	136	0.0074	383	c.464 others(396): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGGGTTGAGT GAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAG TGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGG GGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGA GGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGTGTTGGGTGAGGGGGGTGG G	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(376): Show TTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGG GTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTG GGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0209 a0001c0001t0005g0209	1	136	0.0074	383	c.464 others(396): Show c.464+91_464+92insTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGA GGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGGGTGAGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGGGT GGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGG TTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGG GGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGG G	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(376): Show GTATTATATATTATATAATATATAATGTATTATATATTATATAATATATA ATATATAATGTATTATATATTATATAATATATAATATATAATGTATTATA TATTATATAATATATAATATATAATGTATTATATATTATATAATATATAA TATATAATGTATTATATATTATATAATATATAATATATAATGTATTATAT ATTATATAATATATAATATATAATGTATTATATATTATATAATATATAAT ATATAATGTATTATATATTATATAATATATAATATATAATGTATTATATA TTATATAATATATAATATATAATGTATTATATATTATATAATATATAATA TATAATGTATTATATATTATATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03471.hp2 HG01884.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0070 a0001c0001t0001g0031 a0001c0001t0001g0070	2	227	0.0088	383	c.234 others(400): Show c.234-7088_234-7087insATATTATATATTATATAATATATAATAC ATTATATATTATATATTATATAATATATAATACATTATATATTATATATT ATATAATATATAATACATTATATATTATATATTATATAATATATAATACA TTATATATTATATATTATATAATATATAATACATTATATATTATATATTA TATAATATATAATACATTATATATTATATATTATATAATATATAATACAT TATATATTATATATTATATAATATATAATACATTATATATTATATATTAT ATAATATATAATACATTATATATTATATATTATATAATATATAATACATT ATATATTATATATTATATAATATATAATACATTATATATTATATAATATA TAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SIGIRR_chr11_400716_419999	401900	C C	CGACCCGC others(376): Show CGACCCGCTCACCCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGC CCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGC TCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACC CCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACC CGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCC CCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGC TCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCAC CCCGGCCCCGCTCACACCCGCCCCGCTCACCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0073 a0003c0005t0001g0073	1	158	0.0063	383	c.39 others(394): Show c.3995_*3996insCCGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGA GCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGG GGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCG GGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGG GGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGA GCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGGTGAGCGGGTC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3815		chr11	TogoVar
SIGIRR_chr11_400716_419999	401913	C C	CCCCGACC others(376): Show CCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCC GACCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACCCCGCTC ACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACC CCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCG CCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACACCCGACCC GCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCCCCGCTC ACACCCGCCCCGCTCACCCGGGACCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	200	0.0050	383	c.39 others(394): Show c.3982_*3983insTGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAGC GGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGG GGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGTCCGGTGT GAGCGGGGTCCGGGGTGAGCGGGTCGGGGGTGAGCGGGGCTGGGGTGAGC GGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGTC GGGTGTGAGCGGGGCCCGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3802		chr11	TogoVar
SLC45A4_chr8_141202174_141313288	141203481	A A	AGAGGGAG others(376): Show AGAGGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGACCGTGGAGAGAG AGAGGAGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGGGAGGAGAGAGAG AGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGGAGGGAGAGAGGGAGA GAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGA GGGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG AGAGAGGGAGAGAGGGAGAGAGGGAGAGAGAGAGAGAGGGAGAGAGGGGA GAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGGGAGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0186 a0001c0010t0003g0186	1	90	0.0111	383	c.80 others(394): Show c.8090_*8091insCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCC TCTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTC TCCCCTCTCTCCCTCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCT CCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCTCTCCC TCTCTCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTC TCTCCCTCTCTCCCTCCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCT CTCTCTCTCCTCCCTCTCTCCCTCTCTCTCTCTCTCCCTCTCTCTCCTCT CTCTCTCCACGGTCTCCCTCTCCCTCTCTCCACGGTCTCTCTCTCCCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3692		chr8	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(376): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC AGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGGCAGGGCGGAGAAGGCAC TGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGG CCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGAAGGGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAGGGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0245 a0001c0002t0004g0245	1	208	0.0048	383	c.115 others(400): Show c.1156+266_1156+267insCCTTCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTCC CTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCAGGCCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCC CACCCAGTGCCTTCTCCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCC TTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTG CCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC9A3_chr5_465456_529449	495377	G G	GCTCCGCG others(376): Show GCTCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGC CGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGC TCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCC ATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCC CACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCACTCCCC GCGCCATCGCCGACCCTCCCCACGCTCCACTCCCCGCGCCATCGCCGACC CTCCCCACGCTCCACTCCCCGCGCCATCGCCGACCCTCCCCACGCTCCAC TCCCCGCGCCATCGCCGACCCTCCCCACGCTCCA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0004 a0001c0024t0004	a0001c0024t0004g0140 a0001c0024t0004g0140	1	32	0.0313	383	c.212 others(400): Show c.212-3307_212-3306insTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGT GGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGA TGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGG AGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTC GGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGG AGTGGAGCGTGGGGAGGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGA GGGTCGGCGATGGCGCGGGGAGTGGAGCGTGGGGAGGGTCGGCGATGGCG CGGAG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143422	A A	ATTATATA others(376): Show ATTATATATAAAATATATATATTATATAATATATATATAAAATATATATT ATATAATATATATAAAATATATATATTATATAATATATATATAAAATATA TATATTATATAATATATATATAAAATATATATATTATATATTATATAATA TATATATAAAATATATATAATATATAATATATGTAATATTATATATATTA TATATTATATATATTATATATTATATATATTATATATAATATATATTATA TATTATATATATTATATATAATATATATTATATATTATATATTATATATA ATATATTATATATAATATATATAATATATTATATATAATATATATAATAT ATTATATATATTATATATAATATATTATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0110 a0001c0002t0003g0110	1	161	0.0062	383	c.151 others(402): Show c.1513-3561_1513-3560insTATATATAAAATATATATATTATATA ATATATATATAAAATATATATTATATAATATATATAAAATATATATATTA TATAATATATATATAAAATATATATATTATATAATATATATATAAAATAT ATATATTATATATTATATAATATATATATAAAATATATATAATATATAAT ATATGTAATATTATATATATTATATATTATATATATTATATATTATATAT ATTATATATAATATATATTATATATTATATATATTATATATAATATATAT TATATATTATATATTATATATAATATATTATATATAATATATATAATATA TTATATATAATATATATAATATATTATATATATTATATATAATATATTAT ATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SRXN1_chr20_641615_658200	642037	T T	TGGGGGGG others(376): Show TGGGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGG GGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGTGCCCAGCGGGGGTGGAGTTGCCTGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0147 a0001c0002t0004g0147	1	348	0.0029	383	c.66 others(394): Show c.6676_*6677insCCCACAGGCAACTCCACCCCCGCTGGGCACCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCC CGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCC CCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4577		chr20	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127882561	G G	GGAAAGGA others(376): Show GGAAAGGAAAGGAAAGAAGGGAAAGGAAGGGAAGGGAAGCGGGGGGAGGG GAGGAGAGGGGAGGGAAGGGGAGAGGGGGAGGGGAAGAAGGGGAGGGGAA GAAGGGGAAGGGAAGAAGGGAAGAAGGGAAGGGAAGAGGGAAGGGAAGAG GGGAAGGAACAAGGGAAGGAAAGAAGGGAAGGGAAGAAGGGAAGGGAAGG AAAGGGAAGGGAAGAGGGCGAGGGAAGGGAAGGAAAGGGGGGAGGGAAGG GGGAAGAGGGGGAGGGAAGAGAGGGAGGGAAGAGGGGAAGGGAAAAAAGG AAGAGAAGAAGGGAAGGGAAGAAGGAAAGAAGGGAAGGGAAGAAAGGAAG GGAGAAGGGAAGGGAAGGAGGGAAGGGAAGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	346	0.0029	383	c.40 others(394): Show c.4037_*4038insTTCCCTTCCCTTCCCTCCTTCCCTTCCCTTCTCC CTTCCTTTCTTCCCTTCCCTTCTTTCCTTCTTCCCTTCCCTTCTTCTCTT CCTTTTTTCCCTTCCCCTCTTCCCTCCCTCTCTTCCCTCCCCCTCTTCCC CCTTCCCTCCCCCCTTTCCTTCCCTTCCCTCGCCCTCTTCCCTTCCCTTT CCTTCCCTTCCCTTCTTCCCTTCCCTTCTTTCCTTCCCTTGTTCCTTCCC CTCTTCCCTTCCCTCTTCCCTTCCCTTCTTCCCTTCTTCCCTTCCCCTTC TTCCCCTCCCCTTCTTCCCCTCCCCCTCTCCCCTTCCCTCCCCTCTCCTC CCCTCCCCCCGCTTCCCTTCCCTTCCTTTCCCTTCTTTCCTTTCCTTTC	ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding		2759		chr9	TogoVar
SUFU_chr10_102498972_102638535	102637701	A A	AATATAAT others(376): Show AATATAATTATATATTATATATGATTATAAAATATAATTATATATGATTA TAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAA ATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01516.hp2 HG02698.hp1 HG01099.hp2 HG01516.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0267	3	229	0.0131	383	c.75 others(394): Show c.7546_*7547insATATAATTATATATTATATATGATTATAAAATAT AATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT ATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTATAT ATGATTATAAAATATAATTATATATGATTATAAAATATAATTATATATGA TTATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTAT AAAATATAATTATATATGATTATAAAATATAATTATATATGATTATAAAA TATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATA ATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4167		chr10	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TGTGTGTA others(376): Show TGTGTGTATATACATATACACACATATGTGTGTATATACATATATACATA TATACATATATACATATATACACATATGTGTACATATGTGTATATATACA TATATATACACATATATATGTATATATACACATATGTGTACATATGTGTA TATATACATATATACACATATATATGTATATATACACATATGTGAATATA TATGTGTTATATATACACATATGTGTATATGTATATATGTATATATACAC ATGTGTATATATACATATATACACATATGTGTATATATACATATATACAT ATACACATATGTGTATATATAACACATATATATACACATATGTGTATATA TACATATATACATATACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19076.hp2 NA18984.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0258 a0001c0001t0002g0259	2	221	0.0090	383	c.158 others(402): Show c.1582-2869_1582-2868insGTGTGTATATACATATACACACATAT GTGTGTATATACATATATACATATATACATATATACATATATACACATAT GTGTACATATGTGTATATATACATATATATACACATATATATGTATATAT ACACATATGTGTACATATGTGTATATATACATATATACACATATATATGT ATATATACACATATGTGAATATATATGTGTTATATATACACATATGTGTA TATGTATATATGTATATATACACATGTGTATATATACATATATACACATA TGTGTATATATACATATATACATATACACATATGTGTATATATAACACAT ATATATACACATATGTGTATATATACATATATACATATACACATATGTGT ATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(376): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCCTCCCCCCCTCCCCT CCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCTTC CCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCCTCCCCTCCCCC CTCCCCCCTCCCCCTCCCCCCTCCCCTCCTCCCCTCCCCTCTCCCCTCCC CCCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCCCCCTCCCCTCCCTCCC CCTCCCCTCCCCCCTCCCCGTCCCCTCCTCCCCTCCCCCCTCCCCCCGTC CCCTCCTCTCCCCTCCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	165	0.0061	383	c.186 others(400): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCCTCCCCCCCTCCCCTCCCCTTCCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCC TCCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTCCTC CCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCTCTCCCCTCCCCTC CCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCCGTCCCCTCCTCC CCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCCTCCCCCCTCC CCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTCTCTT others(376): Show TTTCTCTTCTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC TTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTT TCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	137	0.0073	383	c.222 others(402): Show c.222+12014_222+12015insCTCTTCTTCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TERT_chr5_1248167_1300068	1272679	A A	ACACATCA others(376): Show ACACATCAGACCCCTGTGACCGACTGCCATCCACAGTCACCACACATCAG ACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACG ACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAG TCACATCAGACCCCACGACCGCCATCCACAGTCACATCAGACCCCACGAC CGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCAC CACATCAGACCCCACGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	377	0.0027	383	c.228 others(400): Show c.2287-400_2287-399insGTGACTGTGGATGGCGGTCGTGGGGTCT GATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCG TAGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGGTCACAGGGGTCTG ATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TERT_chr5_1248167_1300068	1273020	C C	CCGTGATC others(376): Show CCGTGATCGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCAC CATCCACAGTCACCACATCAGACCCCCGGGACCAACCGCCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGAC CCCACGACCACCATCCACAGTCACCACATCAGACCCCCGGGACCAACCGC CATCCACAGTCACCACACATCAGACCCCCGTGATCGACCACCATCCACAG TCACCACACATCAGACCCCCGGGGACCAACCGCCATCCACAGTCACCACA TCAGACCCCATGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CACCATCCACAGTCACCACATCAGACCCCCGGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0189 a0001c0008t0002g0189	1	372	0.0027	383	c.228 others(400): Show c.2287-741_2287-740insTCCCGGGGGTCTGATGTGGTGACTGTGG ATGGTGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCATGGG GTCTGATGTGGTGACTGTGGATGGCGGTTGGTCCCCGGGGGTCTGATGTG TGGTGACTGTGGATGGTGGTCGATCACGGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTTGGTCCCGGGGGTCTGATGTGGTGACTGTGGATGGTGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTTGGTCCCGGGGGTCTGATGTGGTGACTG TGGATGGTGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGA TCACG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMPRSS6_chr22_37060436_37114713	37097753	C C	CGGCCACC others(376): Show CGGCCACCGTCCTGTAACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAAC GGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGC CACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAG GGGCAGGAGCGGGCCACTGTCCTGTAACGGAGGGGCAGGAGCGGGCCACC GTCCTGTAACGGAGGGGGAGGAGTGGGCCACCGTCCTGTAACGGAGGGGC AGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTCCT GTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACGGAGGGGCAGGGG CGGGCCACCGTCCTGTAACGGAGGGGCAGGGGCG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0074 a0001c0047t0001g0074	1	270	0.0037	383	c.336 others(398): Show c.336+662_336+663insCGCCCCTGCCCCTCCGTTACAGGACGGTGG CCCGCCCCTGCCCCTCCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCG TTACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGC TCCTGCCCCTCCGTTACAGGACGGTGGCCCACTCCTCCCCCTCCGTTACA GGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACAGTGGCCCGCTCCT GCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGAC GGTGGCCCTCTCCTCCCCCTCCGTTACAGGACGGTGGCCCTCTCCTCCCC CTCCGTTACAGGACGGTGGCCCGCTCTTCCCCCTCCGTTACAGGACGGTG GCC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37098006	G G	GTGGGCCA others(376): Show GTGGGCCACCGTCCTGTAACGGAGGGGGAGGAGTGGGCCACCGTCCTGTA ACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGG CCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACGGA GGGGCAGGGGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCAC CGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGG AGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCC TGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGA GCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0256 a0001c0004t0001g0256	1	337	0.0030	383	c.336 others(398): Show c.336+409_336+410insGCTCCTCCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGT TACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGC TCCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAG GACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGCCCCTG CCCCTCCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACG GTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCT CCGTTACAGGACGGTGGCCCACTCCTCCCCCTCCGTTACAGGACGGTGGC CCA	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37098006	G G	GTGGGCCA others(376): Show GTGGGCCACCGTCCTGTAACGGAGGGGGAGGAGTGGGCCACCGTCCTGTA ACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGG CCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACGGA GGGGCAGGGGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCAC CGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGG AGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTCC TGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGA GCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 HG01071.hp1 others(1): Show HG00642.hp2 HG01070.hp2 HG01071.hp1 HG01168.hp2	a0001 a0001	a0001c0004 a0001c0013 a0001c0004 a0001c0013	a0001c0004t0002 a0001c0013t0001 a0001c0004t0002 a0001c0013t0001	a0001c0004t0002g0318 a0001c0013t0001g0039 a0001c0013t0001g0050 others(1): Show a0001c0004t0002g0318 a0001c0013t0001g0039 a0001c0013t0001g0050 a0001c0013t0001g0051	4	340	0.0118	383	c.336 others(398): Show c.336+409_336+410insGCTCCTCCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGT TACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCCGC TCCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAG GACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGCCCCTG CCCCTCCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACG GTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCT CCGTTACAGGACGGTGGCCCACTCCTCCCCCTCCGTTACAGGACGGTGGC CCA	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37098006	G G	GTGGGCCA others(376): Show GTGGGCCACCGTCCTGTAACGGAGGGGGAGGAGTGGGCCACCGTCCTGTA ACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGG CCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACGGA GGGGCAGGGGCGGGCCACCGTCCTGTAACGGAGGGGGAGGGGCGGGCCAC CGTCCTGTAACGGAGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGG AGGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTCC TGTAACGGAGGGGCAGGAGCGGGCCACTGTCCTGTAACGGAGGGGCAGGA GCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0049 a0003c0008t0001g0049	1	337	0.0030	383	c.336 others(398): Show c.336+409_336+410insGCTCCTCCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACAGTGGCCCGCTCCTGCCCCTCCGT TACAGGACGGTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCCGC TCCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAG GACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGCCCCTG CCCCTCCGTTACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACG GTGGCCCGCTCCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCT CCGTTACAGGACGGTGGCCCACTCCTCCCCCTCCGTTACAGGACGGTGGC CCA	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TP53AIP1_chr11_128930370_128947871	128930611	T T	TAGGGAGG others(376): Show TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGG GTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAAGGGTCAGGG AGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGC CGGGGTTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGG GTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0058 a0002c0002t0002g0058	2	457	0.0044	383	c.49 others(394): Show c.4979_*4980insGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAAC CCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAATCCCTGGCCT CCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAG CCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCT	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4758		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870701	A A	ATACACAC others(376): Show ATACACACCACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCATACACACCACACCCCATACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCATACAC ACCACACCCCACACACACCACACCCCATACACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	274	0.0036	383	c.35 others(402): Show c.35+21968_*35+21969insTACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCATACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCA TACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870701	A A	ATACACAC others(376): Show ATACACACCACACCCCACACACACCACACACCCCACACACACCACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCAC ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACCCCATACACACCACACCCCATACACACCACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACCCCATAC ACACCACACCCCACACACACCACACCCCACACACACCACACCCCATACAC ACCACACCCCACACACACCACACCCCATACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01069.hp2 others(29): Show HG00735.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01255.hp1 HG01358.hp1 HG01515.hp1 HG01884.hp2 HG01934.hp2 HG01975.hp1 HG02055.hp1 HG02148.hp2 HG02486.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG02896.hp1 HG03017.hp2 HG03453.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp2 NA18968.hp1 NA19085.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0070 a0001c0001t0001g0105 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0236 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0259 a0001c0001t0001g0282 a0001c0001t0001g0297 a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0002g0253 a0001c0001t0002g0310	32	305	0.1049	383	c.35 others(402): Show c.35+21968_*35+21969insTACACACCACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCATACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCACACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCATACACACCACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACCCCATACACACCACACCCCACACACACCACACCC CACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCA TACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
USP13_chr3_179648040_179794401	179727828	C C	CGGCTGGC others(376): Show CGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGAGCGGGGTGGCTGGCCGGGCAGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCTGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACCCCCCCCACCTCCCTCCCGAGCGGGGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	224	0.0045	383	c.108 others(402): Show c.1089-2275_1089-2274insGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGAGCGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC TGGGCAGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGAGCGGGGTGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCC	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
WDR86_chr7_151376124_151415038	151397644	A A	ATAGCGGG others(376): Show ATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGCAGGAGGA AGGGCATAGCGGGAGGAAGGGCATAGCGGGAGGAAGAGCATAGCGGGAGG AAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGTGGGAGGAAGGGCATAGCG GGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGG CGTAGCAGGAGGAAGGGCATAGCGGGAGGAAGAGGGTGTAGCGGGAGGAA GAGGGTGTAGCGGGAGGAAGGGCATAGCGGGAGGAAGGGCATAGCGGGAG GAAGAGGGTGTAGCGGGAGGAAGAGGGTGTAGTGGGAGGAAGGGCATAGC GGGAGGAAGAGGGTGTAGCGGGAGGAAGAGGGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00621.hp2 others(31): Show HG00408.hp2 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG02040.hp1 HG02155.hp1 HG02155.hp2 NA18612.hp1 NA18939.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18966.hp2 NA18967.hp2 NA18973.hp1 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18994.hp1 NA18997.hp1 NA19005.hp1 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19081.hp1 NA19085.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 a0001c0001 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0005t0002 a0001c0006t0001 a0001c0006t0004 a0001c0006t0007	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0078 others(29): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0156 a0001c0001t0001g0243 a0001c0001t0001g0349 a0001c0001t0001g0361 a0001c0001t0001g0403 a0001c0001t0001g0404 a0001c0001t0003g0075 a0001c0001t0003g0076 a0001c0001t0004g0085 a0001c0001t0004g0236 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0005t0002g0155 a0001c0005t0002g0248 a0001c0005t0002g0348 a0001c0006t0001g0119 a0001c0006t0004g0149 a0001c0006t0004g0154 a0001c0006t0004g0272 a0001c0006t0007g0072	34	431	0.0789	383	c.306 others(400): Show c.306-1449_306-1448insCACCCTCTTCCTCCCGCTACACCCTCTT CCTCCCGCTATGCCCTTCCTCCCACTACACCCTCTTCCTCCCGCTACACC CTCTTCCTCCCGCTATGCCCTTCCTCCCGCTATGCCCTTCCTCCCGCTAC ACCCTCTTCCTCCCGCTACACCCTCTTCCTCCCGCTATGCCCTTCCTCCT GCTACGCCCTCTTCCTCCCGCTACACCCTCTTCCTCCCGCTACACCCTCT TCCTCCCGCTATGCCCTTCCTCCCACTACACCCTCTTCCTCCCGCTACAC CCTCTTCCTCCCGCTATGCTCTTCCTCCCGCTATGCCCTTCCTCCCGCTA TGCCCTTCCTCCTGCTACACCCTCTTCCTCCCGCTACACCCTCTTCCTCC CGCTA	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	2/5			chr7	TogoVar
ZFPM2_chr8_105313438_105809539	105380859	A A	AACATATA others(376): Show AACATATAATATATATGTTATATATATTATAATATATATAACATATAATA TATATGTTATATATATTATAATATATATAACATATAATATATATGTTATA TATATTATAATATATATAACATATAATATATATGTTATATATATTATAAT ATATATAACATATAATATATATGTTATATATATTATAATATATATAACAT ATAATATATATGTTATATATATTATAATATATATAACATATAATATATAT GTTATATATATTATAATATATATAACATATAATATATATGTTATATATAT TATAATATATATAACATATAATATATATGTTATATATATTATAATATATA TAACATATAATATATATGTTATATATATTATAAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	71	0.0141	383	c.41- others(400): Show c.41-38284_41-38283insCATATAATATATATGTTATATATATTAT AATATATATAACATATAATATATATGTTATATATATTATAATATATATAA CATATAATATATATGTTATATATATTATAATATATATAACATATAATATA TATGTTATATATATTATAATATATATAACATATAATATATATGTTATATA TATTATAATATATATAACATATAATATATATGTTATATATATTATAATAT ATATAACATATAATATATATGTTATATATATTATAATATATATAACATAT AATATATATGTTATATATATTATAATATATATAACATATAATATATATGT TATATATATTATAATATATATAACATATAATATATATGTTATATATATTA TAATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZFPM2_chr8_105313438_105809539	105380859	A A	AACATATA others(376): Show AACATATAATATATATGTTATATATATTATAATATATATAACATATAATA TATATGTTATATATATTATAATATATATAACATATAATATATATGTTATA TATATTATAATATATATAACATATAATATATATGTTATATATATTATAAT ATATATAACATATAATATATATGTTATATATATTATAATATATATAACAT ATAATATATATGTTATATATATTATAATATATATAACATATAATATATAT GTTATATATATTATAATATATATAACATATAATATATATGTTATATATAT TATAATATATATAATATATAATATATATGTTATATATATTATAATATATA TAATATATAATATATATGTTATATATATTATAAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0022 a0002c0003t0002g0022	1	71	0.0141	383	c.41- others(400): Show c.41-38284_41-38283insCATATAATATATATGTTATATATATTAT AATATATATAACATATAATATATATGTTATATATATTATAATATATATAA CATATAATATATATGTTATATATATTATAATATATATAACATATAATATA TATGTTATATATATTATAATATATATAACATATAATATATATGTTATATA TATTATAATATATATAACATATAATATATATGTTATATATATTATAATAT ATATAACATATAATATATATGTTATATATATTATAATATATATAACATAT AATATATATGTTATATATATTATAATATATATAATATATAATATATATGT TATATATATTATAATATATATAATATATAATATATATGTTATATATATTA TAATA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZFPM2_chr8_105313438_105809539	105380859	A A	AATATATA others(376): Show AATATATAATATATATGTTATATATATTATAATATATATAACATATAATA TATATGTTATATATATTATAATATATATAACATATAATATATATGTTATA TATATTATAATATATATAACATATAATATATATGTTATATATATTATAAT ATATATAACATATAATATATATGTTATATATATTATAATATATATAACAT ATAATATATATGTTATATATATTATAATATATATAACATATAATATATAT GTTATATATATTATAATATATATAACATATAATATATATGTTATATATAT TATAATATATATAATATATAATATATATGTTATATATATTATAATATATA TAATATATAATATATATGTTATATATATTATAAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02965.hp2 HG00738.hp1 HG02965.hp2	a0002 a0003 a0002 a0003	a0002c0003 a0003c0004 a0002c0003 a0003c0004	a0002c0003t0002 a0003c0004t0004 a0002c0003t0002 a0003c0004t0004	a0002c0003t0002g0023 a0003c0004t0004g0042 a0002c0003t0002g0023 a0003c0004t0004g0042	2	72	0.0278	383	c.41- others(400): Show c.41-38245_41-38244insCATATAATATATATGTTATATATATTAT AATATATATAACATATAATATATATGTTATATATATTATAATATATATAA CATATAATATATATGTTATATATATTATAATATATATAACATATAATATA TATGTTATATATATTATAATATATATAACATATAATATATATGTTATATA TATTATAATATATATAACATATAATATATATGTTATATATATTATAATAT ATATAACATATAATATATATGTTATATATATTATAATATATATAATATAT AATATATATGTTATATATATTATAATATATATAATATATAATATATATGT TATATATATTATAATATATATAATATATATGTTATATATATTATAATATA TATAA	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZNF365_chr10_62369369_62407450	62370753	T T	TACATCAT others(376): Show TACATCATATATGATATATACATCATATATCACACATATGATATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATACAT CATATATCACACATATGATATACATCATATATCACACATATGATATATAT CATATATCACACATATGATATATATCATATATCACACATATGATATATAT CATATATCACACATATGATATATATCATACATATCACATATATCATATAT ATCATACATATCACATATATCATATATATCATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	340	0.0029	383	c.-37 others(394): Show c.-3719_-3718insACATCATATATGATATATACATCATATATCACAC ATATGATATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATACATCATATATCACACATATGATATACATCATATATCAC ACATATGATATATATCATATATCACACATATGATATATATCATATATCAC ACATATGATATATATCATATATCACACATATGATATATATCATACATATC ACATATATCATATATATCATACATATCACATATATCATATATATCATAC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3615		chr10	TogoVar
ZSCAN22_chr19_58321994_58347332	58326569	G G	GCCTCACA others(376): Show GCCTCACACAGCCGCCCTCACCCTCAGACCCTCAAACAGGCACCCTCACC CTCACACAGGCACCCTCACCCTCAGACCCTCAAACAGGCACCCTCACCCT CAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCACCCTCAGCCTCAC ACAGCCGCCCTCACCCTCAGACCCTCAAACAGGCACCCTCACCCTCACCC CTCACACAAACACCCTCAGCCCTCCCAAAGCCACCCTCAGCCTCACACAG CCGCCCTCACCCTCAGCCCTCAAACAGCCGCCCTCACCCTCACACAGCCA CCCTCACCCTCAGACCCTCAAACAGGCACCCTCACCCTCAGCCCTCACAC AGCCAACCCCATCCCTCACACAGGCACCCTCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	314	0.0032	383	c.-59 others(392): Show c.-597_-596insCCTCACACAGCCGCCCTCACCCTCAGACCCTCAAAC AGGCACCCTCACCCTCACACAGGCACCCTCACCCTCAGACCCTCAAACAG GCACCCTCACCCTCAGCCTCACACAGGCACCCTCAGCTCTCACACAGGCA CCCTCAGCCTCACACAGCCGCCCTCACCCTCAGACCCTCAAACAGGCACC CTCACCCTCACCCCTCACACAAACACCCTCAGCCCTCCCAAAGCCACCCT CAGCCTCACACAGCCGCCCTCACCCTCAGCCCTCAAACAGCCGCCCTCAC CCTCACACAGCCACCCTCACCCTCAGACCCTCAAACAGGCACCCTCACCC TCAGCCCTCACACAGCCAACCCCATCCCTCACACAGGCACCCTCAGC	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		424		chr19	TogoVar
ABCA7_chr19_1035107_1070572	1052625	A A	AGAGGAGG others(377): Show AGAGGAGGAGGGGGAGGGAGAGGAGGAGGGGGAGGAGTAGGAGGTGAGCA GAAGGGGAGGAGTAGGAGGGGGAGGAGGAGGGGGAGGGAGAGGAGGAGGA GGGAGGGAGAGGAGGAGGGGGAGGTAGAGGAGGAGGAGGAGGGAGGAGAA AGGGAGGAGTAGGAGGGGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGG AGAGGGAGAGAGAGGAGGGGGAGGAGAAGGGGAGGAGTAGGAGGGAGAGG AGGAGGAGGGGGAGGGAGAGGAAGGGGAGGAGTAGGAGGGAGAGGAGGAG AAAGAGGAGGGGGAGGAGAAGGAGGAGGGGAGGAGAAGGAGGAGGGGGAG AAGAAGGGGAAGAATAAGGGGGGAGGAGTAAGGGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0001 a0012c0018t0001	a0012c0018t0001g0028 a0012c0018t0001g0028	1	4	0.2500	384	c.322 others(401): Show c.3220+339_3220+340insGAGGAGGAGGGGGAGGGAGAGGAGGAGG GGGAGGAGTAGGAGGTGAGCAGAAGGGGAGGAGTAGGAGGGGGAGGAGGA GGGGGAGGGAGAGGAGGAGGAGGGAGGGAGAGGAGGAGGGGGAGGTAGAG GAGGAGGAGGAGGGAGGAGAAAGGGAGGAGTAGGAGGGGAGCAGAAGGGG AGGAGTAGGAGGGGGAGGAGGAGAGGGAGAGAGAGGAGGGGGAGGAGAAG GGGAGGAGTAGGAGGGAGAGGAGGAGGAGGGGGAGGGAGAGGAAGGGGAG GAGTAGGAGGGAGAGGAGGAGAAAGAGGAGGGGGAGGAGAAGGAGGAGGG GAGGAGAAGGAGGAGGGGGAGAAGAAGGGGAAGAATAAGGGGGGAGGAGT AAGGGG	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	23/46			chr19	TogoVar
ABR_chr17_998519_1184981	1064459	C C	CGTGAACT others(377): Show CGTGAACTGAGGGCTATACATGTTCCTCTAGACACTGCTATTATGTGAAC TGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGC TATGCATGTTCCTCTAGACGCTGTTGTTATGTGAACTGAGGGCTATGCAT GTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTC TAGACACTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGT TGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGCTGTTATG TAAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTG AGGGCTATGCATGTTCCTCCAGACGCTGTTGTTAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp1 HG02965.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0012 a0001c0004t0037 a0001c0002t0012 a0001c0004t0037	a0001c0002t0012g0245 a0001c0004t0037g0016 a0001c0002t0012g0245 a0001c0004t0037g0016	2	302	0.0066	384	c.118 others(403): Show c.1182+2617_1182+2618insATAACAACAGCGTCTGGAGGAACATG CATAGCCCTCAGTTCACATAACAACAGTGTCTGGAGGAACATGCATAGCC CTCAGTTTACATAACAGCAGCGTCTAGAGGAACATGCATAGCCCTCAGTT CACGTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAA CAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTC TAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGCGTCTAGAGGA ACATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATGCA TAGCCCTCAGTTCACATAATAGCAGTGTCTAGAGGAACATGTATAGCCCT CAGTTCAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1064459	C C	CGTGAACT others(377): Show CGTGAACTGAGGGCTATACATGTTCCTCTAGACACTGCTATTATGTGAAC TGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGGGC TATGCATGTTCCTCTAGACGCTGTTGTTATGTGAACTGAGGGCTATGCAT GTTCCTCTAGACACTGTTGTTATGTGTACTGAGGGCTATGCATGTTCCTC TAGACACTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGT TGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGACGCTGCTGTTATG TAAACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGTTATGTGAACTG AGGGCTATGCATGTTCCTCCAGACGCTGTTGTTAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0012 a0001c0002t0038g0012	1	301	0.0033	384	c.118 others(403): Show c.1182+2617_1182+2618insATAACAACAGCGTCTGGAGGAACATG CATAGCCCTCAGTTCACATAACAACAGTGTCTGGAGGAACATGCATAGCC CTCAGTTTACATAACAGCAGCGTCTAGAGGAACATGCATAGCCCTCAGTT CACGTAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAA CAGTGTCTAGAGGAACATGCATAGCCCTCAGTACACATAACAACAGTGTC TAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGCGTCTAGAGGA ACATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGGAACATGCA TAGCCCTCAGTTCACATAATAGCAGTGTCTAGAGGAACATGTATAGCCCT CAGTTCAC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1064691	A A	ACATGTTC others(377): Show ACATGTTCCTCTAGACACTGCTATTATGTGAACTGAGGGCTATGCATGTT CCTCTAGACACTGTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAG ACGCTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGT TGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTATGTGA ACTGAGGGCTATGCATGTTCCTCTAGATGCTGTTGTTACGTGAACTGAGG GCTATGCATGTTCCTCTAGATGCTGCTGTTATGTGAACTGAGGGCTATGC ATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCC TCTAGACACTGTTGTTATGTGAACTGAGGGCTATG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp2 NA18950.hp1 others(1): Show NA18945.hp1 NA18945.hp2 NA18950.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0009 a0001c0001 a0001c0007 a0001c0009	a0001c0001t0002 a0001c0001t0010 a0001c0007t0003 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0007t0003 a0001c0009t0018	a0001c0001t0002g0103 a0001c0001t0010g0261 a0001c0007t0003g0139 others(1): Show a0001c0001t0002g0103 a0001c0001t0010g0261 a0001c0007t0003g0139 a0001c0009t0018g0101	4	157	0.0255	384	c.118 others(403): Show c.1182+2385_1182+2386insCATAGCCCTCAGTTCACATAACAACA GTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCTA GAGGAACATGCATAGCCCTCAGTTCACATAACAGCAGCATCTAGAGGAAC ATGCATAGCCCTCAGTTCACGTAACAACAGCATCTAGAGGAACATGCATA GCCCTCAGTTCACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTT CACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAA CAACAGCGTCTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGT GTCTAGAGGAACATGCATAGCCCTCAGTTCACATAATAGCAGTGTCTAGA GGAACATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ADAMTS14_chr10_70667506_70767441	70688844	G G	GGAGGGAG others(377): Show GGAGGGAGAGGGAGACGGAGAGGGAGAGGGAGACGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0012 a0001c0027t0012	a0001c0027t0012g0074 a0001c0027t0012g0074	1	236	0.0042	384	c.523 others(403): Show c.523-13463_523-13462insAGAGGGAGACGGAGAGGGAGAGGGAG ACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS3_chr4_72275969_72574221	72456152	A A	ATATATAG others(377): Show ATATATAGTATATATACTATATATATTTTATATATAGTATATATACTGTA TATATTTTATATATAGTATATATACTGTATATACTATATATATTTTATAT ATAGTATATATACTGTATATACTATATATATTTTATATATAGTATATATA CTGTATATACTATATATATTTTATATATATTTTATATATAGTATGTACTC TATATATTTTATATATAGTATGTACTCTATATATTTTATATATAGTATGT ACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATAGT ATGTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATA TAGTATGTACTATATATTTTATATATAGTATGTAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0007 a0008c0014t0007	a0008c0014t0007g0012 a0008c0014t0007g0012	1	155	0.0065	384	c.505 others(403): Show c.505-41182_505-41181insGTACATACTATATATAAAATATATAG TACATACTATATATAAAATATATAGAGTACATACTATATATAAAATATAT AGAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAAT ATATAGAGTACATACTATATATAAAATATATAGAGTACATACTATATATA AAATATATAGAGTACATACTATATATAAAATATATATAAAATATATATAG TATATACAGTATATATACTATATATAAAATATATATAGTATATACAGTAT ATATACTATATATAAAATATATATAGTATATACAGTATATATACTATATA TAAAATATATACAGTATATATACTATATATAAAATATATATAGTATATAT ACTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(377): Show TTTCTTCTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	1	123	0.0081	384	c.-1- others(399): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGGAAGAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAGAAGAAGA AGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar

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