Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EVC_chr4_5706201_5819305	5706323	T T	TAGATAGA others(1117): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGATACATAGATACATA CATAGATAGATAGCTAGATAGATACATAGATACATAGATAGATAGATAGA TAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATA CATAGATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATACATA CATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGA TAGATACATAGATAGATACATACATACATAGATAGATACATAGACAGATA GATAGATACATAGATAGATAGATAGATACATAGATAGATACATAGATAGA TAGATAGATACATAGATAGATAGATACATACACAGATAGATACATAGATA CATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGA TAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGATA CATACATAGATAGATAGATAGATACATAGATAGATACATACATACATACA TACATAGATAGATACATACATAGATAGATAGATACATAGATAGATAGATA GATAGATAGATAGATAGATAGATACATAGATACATAGATAGATAGATAGA TACATAGATAGATAGATACATAGATAGATAGATAGATACATAGATAGATA GATAGATAGATACATAGATAGATAGATAAATACATAGATAGATAGATAGA TACATAAATAAATAGATAGAAACATAGATAGATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGA TAGATACATAGATAGATAGATAGATAGATACATAAATAGATAGATAGATA GATAGATACATAGATACATAGATACATAGATAGATAGATACATACATACA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATA GATACATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGA TAGATAGATAGATACATAGATAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0015 a0015	a0015c0038 a0015c0038	a0015c0038t0004 a0015c0038t0004	a0015c0038t0004g0080 a0015c0038t0004g0080	1	369	0.0027	1124	c.-50 others(1135): Show c.-5058_-5057insAGATAGATAGATAGATAGATAGATAGATAGATAG ATACATAGATACATACATAGATAGATAGCTAGATAGATACATAGATACAT AGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAG ATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGAT AGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAG ATAGATAGATACATACATAGATAGATACATAGATAGATAGATACATAGAT AGATAGATAGATAGATAGATACATAGATAGATACATACATACATAGATAG ATACATAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGAT AGATACATAGATAGATAGATAGATACATAGATAGATAGATACATACACAG ATAGATACATAGATACATAGATAGATACATAGATAGATAGATAGATACAT AGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAG ATAGATAGATAGATACATACATAGATAGATAGATAGATACATAGATAGAT ACATACATACATACATACATAGATAGATACATACATAGATAGATAGATAC ATAGATAGATAGATAGATAGATAGATAGATAGATAGATACATAGATACAT AGATAGATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAG ATACATAGATAGATAGATAGATAGATACATAGATAGATAGATAAATACAT AGATAGATAGATAGATACATAAATAAATAGATAGAAACATAGATAGATAG ATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACATAGAT AGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATAA ATAGATAGATAGATAGATAGATACATAGATACATAGATACATAGATAGAT AGATACATACATACATAGATAGATAGATAGATACATAGATAGATAGATAG ATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGAT AGATACATAGATAGATAGATAGATAGATACATAGATAGAG	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4877		chr4	TogoVar
EVC_chr4_5706201_5819305	5706333	G G	GATAGATA others(1117): Show GATAGATAGATAGATAGATAGATAGATAGATACATAGATACATACATAGA TAGATAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATA GATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACA TACATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATA GATAGATACATAGATAGATACATACATACATAGATAGATACATAGACAGA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATA CATAGATAGATAGATACATACACAGATAGATACATAGATACATAGATAGA TACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATA GATACATAGATAGATACATAGATAGATAGATAGATACATACATACATAGA TAGATAGATACATAGATAGATAGATACATACATACATACATACATACATA CATAGATACATACATAGATAGATAGATACATAGATAGATAGATAGATAGA TAGATAGATAGATACATAGATACATAGATAGATAGATAGATACATAGATA GATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATAGA TACATAGATAGATAGATAAATACATAGATAGATAGATAGATAGATACATA GATAAATAGATAGAAACATAGATAGATAGATAGATAGATAGATACATAGA TAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATA GATAGATAGATACATAAATAGATAGATAGATAGATAGATACATAGATACA TAGATACATAGATAGATAGATACATACATACATAGATAGATAGATAGATA CATAGATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATACA TAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATACATA GATAGAGAGATAGATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0060 a0060	a0060c0071 a0060c0071	a0060c0071t0002 a0060c0071t0002	a0060c0071t0002g0024 a0060c0071t0002g0024	1	369	0.0027	1124	c.-50 others(1135): Show c.-5048_-5047insATAGATAGATAGATAGATAGATAGATAGATACAT AGATACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATAG ATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGAT ACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAG ATAGATAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGAT AGATAGATAGATACATACATAGATAGATACATAGATAGATAGATACATAG ATAGATAGATAGATAGATAGATACATAGATAGATACATACATACATAGAT AGATACATAGACAGATAGATAGATACATAGATAGATAGATAGATACATAG ATAGATAGATAGATACATAGATAGATAGATACATACACAGATAGATACAT AGATACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAG ATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGATAGAT ACATACATACATAGATAGATAGATACATAGATAGATAGATACATACATAC ATACATACATACATACATAGATACATACATAGATAGATAGATACATAGAT AGATAGATAGATAGATAGATAGATAGATACATAGATACATAGATAGATAG ATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACATAGAT AGATAGATAGATAGATACATAGATAGATAGATAAATACATAGATAGATAG ATAGATAGATACATAGATAAATAGATAGAAACATAGATAGATAGATAGAT AGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGATAG ATACATAGATAGATAGATAGATAGATACATAAATAGATAGATAGATAGAT AGATACATAGATACATAGATACATAGATAGATAGATACATACATACATAG ATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATAGAT ACATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATAG ATAGATAGATACATAGATAGAGAGATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4867		chr4	TogoVar
EVC_chr4_5706201_5819305	5706333	G G	GATAGATA others(1117): Show GATAGATAGATAGATAGATAGATAGATAGATACATAGATACATACATAGA TAGATAGCTAGATAGATACATAGATACATAGATAGATAGATAGATAGATA GATAGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATACA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATA GATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATACATACA TAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATAGATA GATACATAGATAGATACATACATACATAGATAGATACATAGACAGATAGA TAGATACATAGATAGATAGATAGATACATAGATAGATACATAGATAGATA GATAGATACATAGATAGATAGATACATACACAGATAGATACATAGATACA TAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGATA GATAGATACATAGATAGATACATAGATAGATAGATAGATACATACATACA TAGATAGATAGATAGATACATAGATAGATAGATACATACATACATACATA CATAGATAGATACATACATAGATAGATAGATACATAGATAGATAGATAGA TAGATAGATAGATAGATACATAGATACATAGATAGATAGATAGATACATA GATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAGA TAGATACATAGATAGATAGATAAATACATAGATAGATAGATAGATAGATA CATAGATAAATAGATAGAAACATAGATAGATAGATAGATAGATAGATAGA TAGATACATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATA GATAGATACATAAATAGATAGATAGATAGATAGATACATAGATACATAGA TACATAGATAGATAGATACATACATACATAGATAGATAGATAGATACATA GATAGATAGATAGATAGATAGATAGATAGATACATAGATAGATACATAGA TAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATACATA GATAGAGAGATAGATAGATAGATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0006 a0004c0014t0006	a0004c0014t0006g0063 a0004c0014t0006g0063	1	369	0.0027	1124	c.-50 others(1135): Show c.-5048_-5047insATAGATAGATAGATAGATAGATAGATAGATACAT AGATACATACATAGATAGATAGCTAGATAGATACATAGATACATAGATAG ATAGATAGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGAT ACATAGATAGATACATAGATAGATAGATAGATACATAGATAGATAGATAG ATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATACATAGAT AGATAGATACATACATAGATAGATACATAGATAGATAGATACATAGATAG ATAGATAGATAGATAGATACATAGATAGATACATACATACATAGATAGAT ACATAGACAGATAGATAGATACATAGATAGATAGATAGATACATAGATAG ATACATAGATAGATAGATAGATACATAGATAGATAGATACATACACAGAT AGATACATAGATACATAGATAGATACATAGATAGATAGATAGATACATAG ATAGATAGATAGATAGATAGATACATAGATAGATACATAGATAGATAGAT AGATACATACATACATAGATAGATAGATAGATACATAGATAGATAGATAC ATACATACATACATACATAGATAGATACATACATAGATAGATAGATACAT AGATAGATAGATAGATAGATAGATAGATAGATACATAGATACATAGATAG ATAGATAGATACATAGATAGATAGATACATAGATAGATAGATAGATACAT AGATAGATAGATAGATAGATACATAGATAGATAGATAAATACATAGATAG ATAGATAGATAGATACATAGATAAATAGATAGAAACATAGATAGATAGAT AGATAGATAGATAGATAGATACATAGATAGATAGATAGATAGATAGATAC ATAGATAGATAGATAGATAGATACATAAATAGATAGATAGATAGATAGAT ACATAGATACATAGATACATAGATAGATAGATACATACATACATAGATAG ATAGATAGATACATAGATAGATAGATAGATAGATAGATAGATAGATACAT AGATAGATACATAGATAGATAGATAGATAGATACATAGATAGATAGATAG ATAGATAGATACATAGATAGAGAGATAGATAGATAGATAC	EVC	ENSG00000072840.13	transcript	ENST00000264956.11	protein_coding		4867		chr4	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(1117): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0125 a0003c0003t0001g0125	1	394	0.0025	1124	c.41- others(1139): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1117): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATAATATATAATATAATATATAATATATAATATATTATATAATATATAA TATAATATATAATATAATATATAATATATAATATATAATATAATATATAA TATATAATATATAATATAATATATAATGTAATATATAATATATAATATAA TATATAATATATAATATATAATATAATATATAATATATAATATGTAATAT AATATATAATATATAATATATAATATAATATATAATATACAATACATAAT ATATAATGTATAATATAATATATAATATAATATAAAATATATAATATATA ATATATAATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTC TTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGT AATGCTCTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCA GGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAG CTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTT CTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTG CCTTCAATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTC TGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCA ACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGG TACTGTCTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATC CTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATATCATGG AATCCATTGCAACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGG AGGCATATATATTATATATGATATATATTTTATATATTATTTTATATGTG ATATATATTTTATATATCTATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0206 a0001c0001t0006g0206	1	366	0.0027	1124	c.-36 others(1135): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATAAATAATATA ATATATAATATATAATATAATATATAATATAATATATAATATATAATATA TTATATAATATATAATATAATATATAATATAATATATAATATATAATATA TAATATAATATATAATATATAATATATAATATAATATATAATGTAATATA TAATATATAATATAATATATAATATATAATATATAATATAATATATAATA TATAATATGTAATATAATATATAATATATAATATATAATATAATATATAA TATACAATACATAATATATAATGTATAATATAATATATAATATAATATAA AATATATAATATATAATATATAATATTATATATTTTATATATGCATTTCT TCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAG GTAGAAGTAATGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGT ACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCC ACATCTGGCCACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAA GTTCTAGTTACACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACA CTCAAGCTTGTGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGG TTTTCTACTTCCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAA AATAAATGAAACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTT CATGACTGACTAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATT TGCCCCATCAAAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGG TGGCTGATATCATGGAATCCATTGCAACCCTTGTCCTCTGCTCCAGGCTG GGTTTGGCCAATGGGAGGCATATATATTATATATGATATATATTTTATAT ATTATTTTATATGTGATATATATTTTATATATCTATACAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2995		chr2	TogoVar
IL18R1_chr2_102350796_102403776	102352814	T T	TAATATGT others(1117): Show TAATATGTATTTTATATATTATATTATATAAAATATAGTATATTATATAT AATATAATAAATAATATAATATATAATATATAATATAATAAATAATATAA TATATAATATAATATATAATAAATAATATAATATATAATATATAATATAT AATATAATATATAATATAATATATAATATATAATATAATATATAATATAA TATATAATATAATAAATAATATATAATATATAATATAATATATAATATAT AATATATAATATAATATATAATGTAATATATAATATATAATATAATATAT AATATATAATATATAATATAATATATAATATATAATATATAATATATAAT ATATAATATATAATATAATATATAATATACAATACATAATATATAATGTA TAATATAATATATAATATAATATAAAATATATAATATATAATATATAATA TTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCC ATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCA AACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTG TTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCT CTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCC AAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGT GTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCA TGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAA ACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTAT AGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCAC CACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTG CACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATAT ATTATATATGATATATATTTTATATATTATTTTATATGTGATATATATTT TATATATCTATACAATTTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	366	0.0027	1124	c.-36 others(1135): Show c.-3615_-3614insAATATGTATTTTATATATTATATTATATAAAATA TAGTATATTATATATAATATAATAAATAATATAATATATAATATATAATA TAATAAATAATATAATATATAATATAATATATAATAAATAATATAATATA TAATATATAATATATAATATAATATATAATATAATATATAATATATAATA TAATATATAATATAATATATAATATAATAAATAATATATAATATATAATA TAATATATAATATATAATATATAATATAATATATAATGTAATATATAATA TATAATATAATATATAATATATAATATATAATATAATATATAATATATAA TATATAATATATAATATATAATATATAATATAATATATAATATACAATAC ATAATATATAATGTATAATATAATATATAATATAATATAAAATATATAAT ATATAATATATAATATTATATATTTTATATATGCATTTCTTCTCTCAAGG CTCTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAA TGAGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTACTCAAGAAC CTGCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCC ACAAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTA CACTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTG TGCTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTT CCCTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAA ACCCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGAC TAAGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCA AAATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCA TCATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCA ATGGGAGGCATATATATTATATATGATATATATTTTATATATTATTTTAT ATGTGATATATATTTTATATATCTATACAATTTATATATA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2981		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352814	T T	TAATATGT others(1117): Show TAATATGTATTTTATATATTATATTATATAAAATATAGTATATTATATAT AATATAATAAATAATATAATATATAATATATAATATAATAAATAATATAA TATATAATATAATATATAATAAATAATATAATATATAATATATAATATAT AATATAATATATAATATAATATATAATATATAATATAATATATAATATAA TATATAATATAATAAATAATATATAATATATAATATAATATATAATATAT AATATATAATATAATATATAATGTAATATATAATATATAATATAATATAT AATATATAATATATAATATAATATATAATATATAATATATAATATATAAT ATATAATATATAATATAATATATAATATACAATACATAATATATAATGTA TAATATAATATATAATATAATATAAAATATATAATATATAATATATAATA TTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCC ATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCA AACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTG TTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCT CTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCC AAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGT GTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCA TGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAA ACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTAT AGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCAC CACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTG CACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATAT ATTATATATGATATATATTTTATATATTATTTTATATGTGATATATATTT TATATATCTATACAATTTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03540.hp1 HG03516.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0199 a0002c0002t0002g0200	2	348	0.0058	1124	c.89 others(1133): Show c.893_*894insAATATGTATTTTATATATTATATTATATAAAATATA GTATATTATATATAATATAATAAATAATATAATATATAATATATAATATA ATAAATAATATAATATATAATATAATATATAATAAATAATATAATATATA ATATATAATATATAATATAATATATAATATAATATATAATATATAATATA ATATATAATATAATATATAATATAATAAATAATATATAATATATAATATA ATATATAATATATAATATATAATATAATATATAATGTAATATATAATATA TAATATAATATATAATATATAATATATAATATAATATATAATATATAATA TATAATATATAATATATAATATATAATATAATATATAATATACAATACAT AATATATAATGTATAATATAATATATAATATAATATAAAATATATAATAT ATAATATATAATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCT CTCTTCTTCCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATG AGTAATGCTCTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCT GCAGGGACTCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCAC AAGCTCTTCACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACA CTTCTCCTCAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTG CTGCCTTCAATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCC CTCTGTCAATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAAC CCAACAACACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTA AGGTACTGTCTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAA ATCCTCTCTTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATC ATGGAATCCATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAAT GGGAGGCATATATATTATATATGATATATATTTTATATATTATTTTATAT GTGATATATATTTTATATATCTATACAATTTATATATA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		778		chr2	TogoVar
KREMEN1_chr22_29068035_29151820	29120084	T T	TGGAGGAG others(1117): Show TGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGA AGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGGAGAGG TGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGG GAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAACAGGG AGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAA ACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATG ATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAG AGGTGATGATGGAAATGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAG GGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATG GAGGAAGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAG GAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTG ATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGA GAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAG GAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAAC AGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGAT GGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGT GATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGG AGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGG GAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTG ATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGA GAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAG GAGGGAGAGGTGATGAAGGAAACAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0200 a0001c0001t0008g0200	1	368	0.0027	1124	c.353 others(1141): Show c.353-1253_353-1252insTGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGGAGAG GTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAG GGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAACAGG GAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGA AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT GATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGA GAGGTGATGATGGAAATGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGA GGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAAT GGAGGAAGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAA GGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGT GATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGG AGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGA GGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAA CAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGA TGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGG TGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGG GAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAG GGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGT GATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGG AGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGA GGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LARS1_chr5_146108034_146187650	146174505	T T	TATATATA others(1117): Show TATATATATCCATATATATATATCCATATATATATCCATATATATATATC CATATATATATCCATATATATATCCATATATATATCCATATATATATCCA TATATATATATCCATATATATATCCATATATATATATCCATATATATGGA TATATATATATCCATATATATCTATCCATATATATATCCATATATATCTA TCCATATATATATCCATATATCTATCCATATATATATCCATATATATATA TCCATATATATATATATCCATATATATATCCATATATATATATCCATATA TATATATATATCCATATATATATATATCCACATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATATCCATATATATATATATCCATATATATATATATC ATATATATATATATCCATATATATATATCCATATATATATATATCCATAT ATATATATCCATATATATATATATATCCATATATATATCCATATATATAT ATCCATATATATATATCCATATATATATATCCATATATATATATCCATAT ATATATATCCATATATATATATATCCATATATATATCCATATATATATAT CCATATATATATATCCATATATATATATATCCATATATATATATATCCAT ATATATATATCCATATAATATATATCCATATATATATATATCCATATATA TATATCCATATATATATCCATATATATATCCATATATATATTATCCATAT ATATATATCCATATATATATATCCATATATATATATCCAAATAATATATA TCCATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATATCCATATATATATCCATATATATATATATCCATATATATATC CATATATATATATCCATATATATATATCCATATATATATATATCCATATA TATATCCATATATATATATATCCATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATATCCATATATATATCCATATA TATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0002 a0009c0007t0002	a0009c0007t0002g0222 a0009c0007t0002g0222	1	284	0.0035	1124	c.126 others(1141): Show c.126-1732_126-1731insGGATATATATATATGGATATATATATAT ATGGATATATATATGGATATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATGGATATATATATATATGGATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATGGATAT ATATTATTTGGATATATATATATGGATATATATATATGGATATATATATA TGGATAATATATATATGGATATATATATGGATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATTATATGGATATATATATATG GATATATATATATATGGATATATATATATATGGATATATATATATGGATA TATATATATGGATATATATATGGATATATATATATATGGATATATATATA TGGATATATATATATGGATATATATATATGGATATATATATATGGATATA TATATATGGATATATATATGGATATATATATATATATGGATATATATATA TGGATATATATATATATGGATATATATATATGGATATATATATATATGAT ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATATGGATATATATATATGGATATATATATATGGATATATATAT ATGGATATATATATATGTGGATATATATATATATGGATATATATATATAT ATGGATATATATATATGGATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATGGATAGATATATGGATATATATATGGATAG ATATATATGGATATATATATGGATAGATATATATGGATATATATATATCC ATATATATGGATATATATATATGGATATATATATGGATATATATATATGG ATATATATATGGATATATATATGGATATATATATGGATATATATATGGAT ATATATATATGGATATATATATGGATATATATATATGGATATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(1117): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGCATATGTGTATATATGCATATATGTATATGC ATATGTGTATATATGCATATATGTATATGCATATGTGTGTATATATACAT ATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCAT ATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATAC ATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACACATATAT GTATATGCATATGTGTGTATATATACACATATACATATATATGCATATGT GTGTATATATACATATACATATATATGCATATATGTGTATACATATACAT ATATATGCATATATGTGTATATATACACATATATATGTGTGTGTATATAT ATGTGTGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGT GTATATATACACATATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA18947.hp1 NA18949.hp2 others(1): Show NA18942.hp1 NA18947.hp1 NA18949.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0002 a0001c0001t0001g0024	4	456	0.0088	1124	c.31 others(1135): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGCATATGTGTATATATG CATATATGTATATGCATATGTGTATATATGCATATATGTATATGCATATG TGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACATA TATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATA TGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACA TATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATA TATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACACATATATGTATATGCATATGTGTGTATATATACACATATACA TATATATGCATATGTGTGTATATATACATATACATATATATGCATATATG TGTATACATATACATATATATGCATATATGTGTATATATACACATATATA TGTGTGTGTATATATATGTGTGTGTATATATACACATATATATGTGTGTG TATATATATGTGTGTGTATATATACACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(1117): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGCATATGTGTATATATGCATATATGTATATGC ATATGTGTATATATGCATATATGTATATGCATATGTGTGTATATATACAT ATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCAT ATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATAC ATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACACATATACATATATATGCATATGT GTGTATATATACATATACATATATATGCATATATGTGTATACATATACAT ATATATGCATATATGTGTATATATACACATATATATGTGTGTGTATATAT ATGTGTGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGT GTATATATACACATATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 NA18965.hp1 NA18971.hp2 others(1): Show HG00733.hp1 NA18965.hp1 NA18971.hp2 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	456	0.0088	1124	c.31 others(1135): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGCATATGTGTATATATG CATATATGTATATGCATATGTGTATATATGCATATATGTATATGCATATG TGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACATA TATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATA TGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACA TATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATA TATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACACATATACA TATATATGCATATGTGTGTATATATACATATACATATATATGCATATATG TGTATACATATACATATATATGCATATATGTGTATATATACACATATATA TGTGTGTGTATATATATGTGTGTGTATATATACACATATATATGTGTGTG TATATATATGTGTGTGTATATATACACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(1117): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGC ATATGTGTATATATGCATATATGTATATGCATATGTGTGTATATATACAT ATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCAT ATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATAC ATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTATATATACATATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACACATATACATATATATGCATATGT GTGTATATATACATATACATATATATGCATATATGTGTATACATATACAT ATATATGCATATATGTGTATATATACACATATATATGTGTGTGTATATAT ATGTGTGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGT GTATATATACACATATATATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02027.hp2 HG02056.hp1 others(12): Show HG00423.hp1 HG02027.hp2 HG02056.hp1 HG02132.hp1 HG02135.hp1 HG03453.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18983.hp2 NA19001.hp2 NA19010.hp2 NA19011.hp2 NA19085.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	15	456	0.0329	1124	c.31 others(1135): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGCATATGTGTATATATGCATATATGTATATGCATATG TGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACATA TATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCATA TGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACA TATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATA TATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACACATATACA TATATATGCATATGTGTGTATATATACATATACATATATATGCATATATG TGTATACATATACATATATATGCATATATGTGTATATATACACATATATA TGTGTGTGTATATATATGTGTGTGTATATATACACATATATATGTGTGTG TATATATATGTGTGTGTATATATACACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PKP3_chr11_389209_409908	398113	T T	TGTCACCT others(1117): Show TGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCAC ATACCTGCGTCACCTCCCTACCCCCCGCACACACCTCCGTCACCTCCGTA CCCCCGCACACACCTGTGTCACCTCCCTACCCCCACATATACCTCATCAC CTCCGTACACCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACC TCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACCCCCGC ACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGT ACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTC ACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCACACA CCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCC CACATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTGCATCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACC CCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACC TCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACATACCTG CGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACA CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACC TCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCT GCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCA CCTCCGTACCCCCGCACACACCTGC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	216	0.0046	1124	c.106 others(1141): Show c.1068+525_1068+526insCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTGTGTCACCTCCCTACCCCCACATATACCTCATCACCTC CGTACACCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCTCA TCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACC CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACC TCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACCT GCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCAC ATATACCTCATCACCTCCGTACACCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCA CCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTGCATCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCC GCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGTGTCACCTCC CTACCCCCACATATACCTCATCACCTCCGTACACCCGCACATACCTGCGT CACCTCCCTACCCCCACATATACCTCATCACCTCCGTACCCCCGCACACA CCTGCGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCC GCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCC GTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCACATATACCTC ATCACCTCCGTACACCCGCACATACCTGCGTCACCTCCCTACCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(1117): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCTTCATCATCACCACCATCACCATCACCACCATCA CCACCACCACCACTACCACCACCATCATCACCAGCACCACCATCACCATC ACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCAT CACCACCACCACCATCACCATCACCACCACCATCACCACCACCATCAACA CCATTACCACCACCACCACTACCACCACCATCAATACCACCATCACCACC ACCATCATCATCACCATCACCACCATCATCACCACCATCACCACCATCAC CATCACCATCACCACCATCATCATCACCACCATCACCATCACCACCACCA CCATCACCACCATCACCACCACTATCAACATCATCATCATCACCACCATC AACACCATCATCACCACCACTGTCATCACCACCACCACCATCACCACCAC CATCACCACCATCTCACCATCACCATCACCACCATCATCACCACCACCAT CACCACCACCATCAACACCATCACCACCATCATCATCACCACCATCACCA CCACCATCACCACCACCATCACCATCACCATCACCACCACCACCATCACC ACCAGCACCACCAGCACCACCACCATCAACATCATCATCATCACCATCAC CACCATCATCACCACCACCGTCATCACCACCAGCACCACCATCACCACCA CCATCACCACCATCTCACCATCATCACCATCACCACCATCATCACCACCA CCATCACCACCACCATCACCATCACCATCACCACCATCTCACCATCACCA TCACCACCATCATCACCACCACCATCACCACCACCATCACCATCACCATC ACCACCATCATCATCACCACCATCACCACCACCACCACCACCATCATCAC CATCACCACCAGCACCACCACCAACATCATCATCATCACCACCACCACCA CCATCACCACCACCACCATCAACACCACCATCACCACCACCATCATCATC ACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18994.hp1 NA18997.hp1 others(3): Show NA18971.hp2 NA18994.hp1 NA18997.hp1 NA19005.hp2 NA19084.hp2 NA19085.hp1	a0001 a0004 a0039 a0001 a0004 a0039	a0001c0001 a0001c0069 a0004c0002 others(1): Show a0001c0001 a0001c0069 a0004c0002 a0039c0078	a0001c0001t0001 a0001c0001t0010 a0001c0069t0017 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0069t0017 a0004c0002t0011 a0039c0078t0001	a0001c0001t0001g0031 a0001c0001t0001g0061 a0001c0001t0010g0036 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0061 a0001c0001t0010g0036 a0001c0069t0017g0251 a0004c0002t0011g0159 a0039c0078t0001g0055	6	322	0.0186	1124	c.48 others(1135): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATG GTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGTGAT GGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGG TGAGATGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGA TGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGA TGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTG ATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGT GGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGG TGGTGATGATGATGGTGGTGATGGTGTTGATGGTGGTGGTGATGGTGGTG GTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGATGACAGTGGTGGTGATGATGGTGTTGATGGTGGT GATGATGATGATGTTGATAGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGATGGTGATGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGTG GTGATGGTGGTGATGATGGTGGTGATGGTGATGATGATGGTGGTGGTGAT GGTGGTATTGATGGTGGTGGTAGTGGTGGTGGTGGTAATGGTGTTGATGG TGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGAT GGTGGTGCTGGTGATGATGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGG TGATGGTGATGGTGGTGATGATGAAGGTGGTGGTGGTGATGGTGGTGATG GTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTGGTGATGATGGT GATGATGATGGTGTTGATGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(1117): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCTTCATCATCACCACCATCACCATCACCACCATCA CCACCACCACCACTACCACCACCATCATCACCAGCACCACCATCACCATC ACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCAT CACCACCACCACCATCACCATCACCACCACCATCACCACCACCATCAACA CCATTACCACCACCACCACTACCACCACCATCAATACCACCATCACCACC ACCATCATCATCACCATCACCACCATCATCACCACCATCACCACCATCAC CATCACCATCACCACCATCATCATCACCACCATCACCATCACCACCACCA CCATCACCACCATCACCACCACTATCAACATCATCATCATCACCACCATC AACACCATCATCACCACCACTGTCATCACCACCACCACCATCACCACCAC CATCACCACCATCTCACCATCACCATCACCACCATCATCACCACCACCAT CACCACCACCATCATCACCATCACCACCATCATCATCACCACCATCACCA CCACCATCACCACCACCATCACCATCACCATCACCACCACCACCATCACC ACCAGCACCACCAGCACCACCACCATCAACATCATCATCATCACCATCAC CACCATCATCACCACCACCGTCATCACCACCAGCACCACCATCACCACCA CCATCACCACCATCTCACCATCATCACCATCACCACCATCATCACCACCA CCATCACCACCACCATCACCATCACCATCACCACCATCTCACCATCACCA TCACCACCATCATCACCACCACCATCACCACCACCATCACCATCACCATC ACCACCATCATCATCACCACCATCACCACCACCACCACCACCATCATCAC CATCACCACCAGCACCACCACCAACATCATCATCATCACCACCACCACCA CCATCACCACCACCACCATCAACACCACCATCACCACCACCATCATCATC ACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02027.hp2 NA18943.hp1 others(4): Show HG00609.hp1 HG02027.hp2 NA18943.hp1 NA18946.hp1 NA18971.hp1 NA18993.hp2 NA18999.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 others(2): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0004c0002t0010 a0004c0002t0011	a0001c0001t0001g0048 a0001c0001t0010g0010 a0001c0001t0010g0053 others(4): Show a0001c0001t0001g0048 a0001c0001t0010g0010 a0001c0001t0010g0053 a0001c0001t0010g0066 a0001c0001t0011g0144 a0004c0002t0010g0020 a0004c0002t0011g0153	7	322	0.0217	1124	c.48 others(1135): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATG GTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGTGAT GGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGG TGAGATGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGA TGATGGTGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGA TGGTGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTG ATGATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGT GGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGG TGGTGATGATGATGGTGGTGATGGTGATGATGGTGGTGGTGATGGTGGTG GTGATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGGTG ATGGTGGTGGTGGTGATGACAGTGGTGGTGATGATGGTGTTGATGGTGGT GATGATGATGATGTTGATAGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGATGGTGATGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGTG GTGATGGTGGTGATGATGGTGGTGATGGTGATGATGATGGTGGTGGTGAT GGTGGTATTGATGGTGGTGGTAGTGGTGGTGGTGGTAATGGTGTTGATGG TGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGAT GGTGGTGCTGGTGATGATGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGG TGATGGTGATGGTGGTGATGATGAAGGTGGTGGTGGTGATGGTGGTGATG GTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTGGTGATGATGGT GATGATGATGGTGTTGATGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(1117): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCTTCATCATCACCACCATCACCATCACCACCATCA CCACCACCACCACTACCACCACCATCATCACCAGCACCACCATCACCATC ACCACCATCACCACCACCACCATCACCATCACCACCACCACCACCACCAT CACCACCACCACCATCACCATCACCACCACCATCACCACCACCATCAACA CCATTACCACCACCACCACTACCACCACCATCAATACCACCATCACCACC ACCATCATCATCACCATCACCACCATCATCACCACCATCACCACCATCAC CATCACCATCACCACCATCATCATCACCACCATCACCATCACCACCACCA CCATCACCACCATCACCACCACTATCAACATCATCATCATCACCACCATC AACACCATCATCACCACCACTGTCATCACCACCACCACCACCATCACCAC CACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACCAC CATCACCACCACCATCATCACCATCACCACCATCATCATCACCACCATCA CCACCACCATCACCACCACCATCACCATCACCATCACCACCACCACCATC ACCACCAGCACCACCAGCACCACCACCATCAACATCATCATCATCACCAT CACCACCATCATCACCACCACCGTCATCACCACCAGCACCACCATCACCA CCACCATCACCACCATCTCACCATCATCACCATCACCACCATCATCACCA CCACCATCACCACCACCATCACCATCACCATCACCACCATCTCACCATCA CCATCACCACCATCATCACCACCACCATCACCACCACCATCACCATCACC ATCACCACCATCATCACCACCATCACCACCACCACCACCACCATCATCAC CATCACCACCAGCACCACCACCAACATCATCATCATCACCACCACCACCA CCATCACCACCACCACCATCAACACCACCATCACCACCACCATCATCATC ACCACCACCACCATCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0121 a0008c0010t0001g0121	1	322	0.0031	1124	c.48 others(1135): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATGATG GTGGTGGTGGTGGTGGTGATGGTGGTGATGATGGTGGTGATGGTGATGGT GATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGA GATGGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGA TGGTGGTGATGGTGATGATGGTGAGATGGTGGTGATGGTGGTGGTGATGG TGGTGCTGGTGGTGATGACGGTGGTGGTGATGATGGTGGTGATGGTGATG ATGATGATGTTGATGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGT GGTGGTGATGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGG TGATGATGATGGTGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTG ATGATGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGATG GTGGTGGTGGTGGTGATGACAGTGGTGGTGATGATGGTGTTGATGGTGGT GATGATGATGATGTTGATAGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGATGGTGATGGTGGTGATGATGATGGTGGTGATGGTGATGGTGATGGTG GTGATGGTGGTGATGATGGTGGTGATGGTGATGATGATGGTGGTGGTGAT GGTGGTATTGATGGTGGTGGTAGTGGTGGTGGTGGTAATGGTGTTGATGG TGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGAT GGTGGTGCTGGTGATGATGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGG TGATGGTGATGGTGGTGATGATGAAGGTGGTGGTGGTGATGGTGGTGATG GTGGTGATGGTGGTGGTGGTGGTTATGGTGGTGGTGGTGGTGATGATGGT GATGATGATGGTGTTGATGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
SERPINF2_chr17_1737871_1760265	1740324	A A	AGCCGGAC others(1117): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAG TGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCA GGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGTAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TCAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGG AGCAGGTGTGAGGGCGGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGG ACACTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGG TGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGTACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0091 a0002c0002t0004g0091	1	445	0.0023	1124	c.-25 others(1135): Show c.-2589_-2588insGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGTAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTCAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGGAAGCGGCCTGATGCAG GGAGTGAGGCGCAGGACACTGAGGGTGGGAAGGAGCCTGATTCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGT ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2546		chr17	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(1117): Show ATATATATAAATATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATATAAATATATATATAAATATATATATAA ATATATATAAATATATATAAATATATATAAATATATATATAAATATATAT AAATATATATAAATATATATATAAATATATATAAATATATATAAATATAT ATAAATATAAATATATATATAAATATATATAAATATATATAAATATATAT ATAAATATATAAAAATATATATAAATATATATAAATATATATAAATATAT ATATAAATATATATAAATATATAAATATATATAAATATATAAATATATAT ATAAATATATATAAATATATATAAATATATATATAAATATATATACATAT ATATAAATATATATAAATATATATAAATATATAAAAAATATATAAATATA TATAAATATATATAAATATAAATATATACAAATATATATATAAATATGTA TAAATATATAAAAATATATATATAAATATATAAAAATATATATATAAATA TATAAAAATATATAAAAATATATATATAAATATATATAAATATATATATA TAAAAATATATATAAAAATATATATAAATATATATATAAATATATATAAA TAGATATAAATATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATATAAATATATATTTAAA TATATATAAATATATATAAATATATATATAAATATATATATAAATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATATATAAA TATATATAAATATATAAAAAATATATATAAATATATAAATATATAAAAAT ATATATATAAATATATATAAATATATATAAATATATAAAAATATATATAA ATATATTTATATATTTAAATATATTTATATATATAAATATATAAAAATAT ATATAAATATATATAAATATATAAAAATATATATATATAAATATATATAT AAATATATATAAATATATTTTTATATATAAATATATTTATATATAAATAT AAATATATATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0022 a0001c0002t0010g0100 a0001c0002t0010g0022 a0001c0002t0010g0100	2	186	0.0108	1124	c.-50 others(1135): Show c.-5060_-5059insTATATATAAATATATATATAAATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA TAAATATATATATAAATATATATAAATATATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATAAATATATATAAATATAAATATATATATAAATATATATAAATA TATATAAATATATATATAAATATATAAAAATATATATAAATATATATAAA TATATATAAATATATATATAAATATATATAAATATATAAATATATATAAA TATATAAATATATATATAAATATATATAAATATATATAAATATATATATA AATATATATACATATATATAAATATATATAAATATATATAAATATATAAA AAATATATAAATATATATAAATATATATAAATATAAATATATACAAATAT ATATATAAATATGTATAAATATATAAAAATATATATATAAATATATAAAA ATATATATATAAATATATAAAAATATATAAAAATATATATATAAATATAT ATAAATATATATATATAAAAATATATATAAAAATATATATAAATATATAT ATAAATATATATAAATAGATATAAATATATATATAAATATATATAAATAT ATATAAATATATATATAAATATATATAAATATATATATAAATATATATAT AAATATATATTTAAATATATATAAATATATATAAATATATATATAAATAT ATATATAAATATATATAAATATATATATAAATATATATAAATATATATAA ATATATATATATAAATATATATAAATATATAAAAAATATATATAAATATA TAAATATATAAAAATATATATATAAATATATATAAATATATATAAATATA TAAAAATATATATAAATATATTTATATATTTAAATATATTTATATATATA AATATATAAAAATATATATAAATATATATAAATATATAAAAATATATATA TATAAATATATATATAAATATATATAAATATATTTTTATATATAAATATA TTTATATATAAATATAAATATATATAAATATATATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
TTLL11_chr9_121810674_122098308	121895759	T T	TTGTGTGT others(1117): Show TTGTGTGTGTCCGTAAGTGTGGTTGTGTGGGTTTGTGTGACTGTGATTGT ATCTGTGTGTGTCCGTGTGTGTGGTTGCGTTTGTGAGTGTGTCTGTGTGT ATGTGTGGGTGTGTGTGGATGTTTGTGTGTGTGAATGTGTGGGTGTGTGT TTGTGTGTCTGTGGGTGTGTGTTTGTGTGTCTGTGTGGGTGTGTTTTGTG TTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCTGTGTGTGGAT GTGTGGGTGTGTTTCGTGTGTTTGTGTATCTGTGGATGTGTGGGTGTGTT TTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCTGTGTGTGGATGTG TGGGTATGTTTTGTGTGTTTGTGTATCTGTGTATGTGTGGGTGTGTTTTG TGTGTTTCTGAGTGTGTGTCTGTGTGGATGTGTGGGTGTGTGTCTGTGTG GGGGTGTTTTGTGCAGTGGTGTGTCTGTGTGTGGATGTGTGGGTGTGTTT TATATGTTTGTGAGTGTGTATGTGTGGGTGTGTTTTGTGTGTGGGTGTGT GTCTGTGCTTATGTGTGGGTGTGTCTGTGTGTGTGGATGTGTGGGTGTGT TTGTGTGTGGATGTGTGGGTGTGTTTTTTGTGTTTGTGTGTAGATGTGTG GGTGTGTGTATATGTGGGTGTGTTTTGTGTTTGTGAGTGTGTGTAGATAT GTGGACGTGTTTTGTGTGTGTGTGGATGTTTTGTGTGTGTGTATGTGTGG GTGTTTGTGTGTGCGAATGCGGTTGTATGGGTTTGTGTGACTGTGTGTGA TGTGTGTGTTCATTTGTGTGTTTGTGTGTGTGTGGATGTGTGGGTGTGGG TGTGGATGTGTAGGTGTGTTGTGTTTGTGGGTGTGTTTGTGTGTATGTGT GGGTGTATTTGTGTGTCTGTGTGTAGATGGGTGGCTGTGGGTGTGTGTGG CTGTGTGTGTTTTGTGTGTGTGTCTGTGTGGATGTGTGGGTGTGTGTTTG TGTCTGTGTGAGTGTGTTTGTGTCTGTGTGTGGATGTGTGGGTGTAGTGT TTGTGAGTGTGAGTCTGTGTCGTGTGCTTTGTGTGTTTGTGTGGATGTGT GGGTGTGTTTGTGTGTGTGGATGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20129.hp1 HG01891.hp2 NA20129.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0009 a0003c0003t0001g0160 a0002c0002t0001g0009 a0003c0003t0001g0160	2	174	0.0115	1124	c.148 others(1145): Show c.1482-25012_1482-25011insCACATCCACACACACAAACACACC CACACATCCACACAAACACACAAAGCACACGACACAGACTCACACTCACA AACACTACACCCACACATCCACACACAGACACAAACACACTCACACAGAC ACAAACACACACCCACACATCCACACAGACACACACACAAAACACACACA GCCACACACACCCACAGCCACCCATCTACACACAGACACACAAATACACC CACACATACACACAAACACACCCACAAACACAACACACCTACACATCCAC ACCCACACCCACACATCCACACACACACAAACACACAAATGAACACACAC ATCACACACAGTCACACAAACCCATACAACCGCATTCGCACACACAAACA CCCACACATACACACACACAAAACATCCACACACACACAAAACACGTCCA CATATCTACACACACTCACAAACACAAAACACACCCACATATACACACAC CCACACATCTACACACAAACACAAAAAACACACCCACACATCCACACACA AACACACCCACACATCCACACACACAGACACACCCACACATAAGCACAGA CACACACCCACACACAAAACACACCCACACATACACACTCACAAACATAT AAAACACACCCACACATCCACACACAGACACACCACTGCACAAAACACCC CCACACAGACACACACCCACACATCCACACAGACACACACTCAGAAACAC ACAAAACACACCCACACATACACAGATACACAAACACACAAAACATACCC ACACATCCACACACAGACACACAAAACACACCCGCACATCCACACACACA AAACACACCCACACATCCACAGATACACAAACACACGAAACACACCCACA CATCCACACACAGACACACAAAACACACCCGCACATCCACACACACAAAA ACACAAAACACACCCACACAGACACACAAACACACACCCACAGACACACA AACACACACCCACACATTCACACACACAAACATCCACACACACCCACACA TACACACAGACACACTCACAAACGCAACCACACACACGGACACACACAGA TACAATCACAGTCACACAAACCCACACAACCACACTTACGGACACACACA	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
TTLL11_chr9_121810674_122098308	121895759	T T	TTGTGTGT others(1117): Show TTGTGTGTGTCCGTAAGTGTGGTTGTGTGGGTTTGTGTGACTGTGATTGT ATCTGTGTGTGTCCGTGTGTGTGGTTGCGTTTGTGAGTGTGTCTGTGTGT ATGTGTGGGTGTGTGTGGATGTTTGTGTGTGTGTGAATGTGTGGGTGTGT GTTTGTGTGTCTGTGGGTGTGTGTTTGTGTGTCTGTGTGGGTGTGTTTTG TGTTTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCTGTGTGTGG ATGTGTGGGTGTGTTTCGTGTGTTTGTGTATCTGTGGATGTGTGGGTGTG TTTTGTGTGTGTGGATGTGCGGGTGTGTTTTGTGTGTCTGTGTGTGGATG TGTGGGTATGTTTTGTGTGTTTGTGTATCTGTGTATGTGTGGGTGTGTTT TGTGTGTTTCTGAGTGTGTGTCTGTGTGGATGTGTGGGTGTGTCTGTGTG GGGGTGTTTTGTGCAGTGGTGTGTCTGTGTGTGGATGTGTGGGTGTGTTT TATATGTTTGTGTGTATGTGTGGGTGTGTTTTGTGTGTGGGTGTGTGTCT GTGCTTATGTGTGGGTGTGTCTGTGTGTGTGGATGTGTGGGTGTGTTTGT GTGTTTGTGGATGTGTGGGTGTGTTTTTTGTGTTTGTGTGTAGATGTGTG GGTGTGTGTATATGTGGGTGTGTTTTGTGTTTGTGAGTGTGTGTAGATAT GTGGACGTGTTTTGTGTGTGTGTGGATGTTTTGTGTGTGTGTATGTGTGG GTGTTTGTGTGTGCGAATGCGGTTGTATGGGTTTGTGTGACTGTGTGTGA TGTGTGTGTTCATTTGTGTGTTTGTGTGTGTGTGGATGTGTGGGTGTGGG TGTGGATGTGTAGGTGTGTTGTGTTTGTGGGTGTGTTTGTGTGTATGTGT GGGTGTATTTGTGTGTCTGTGTGTAGATGGGTGGCTGTGGGTGTGTGTGG CTGTGTGTGTTTTGTGTGTGTGTCTGTGTGGATGTGTGGGTGTGTGTTTG TGTCTGTGTGAGTGTGTTTGTGTCTGTGTGTGGATGTGTGGGTGTAGTGT TTGTGAGTGTGAGTCTGTGTCGTGTGCTTTGTGTGTTTGTGTGGATGTGT GGGTGTGTTTGTGTGTGTGGATGTG	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18968.hp1 HG02523.hp2 NA18968.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0014 a0005c0004t0019 a0001c0001t0014 a0005c0004t0019	a0001c0001t0014g0086 a0005c0004t0019g0029 a0001c0001t0014g0086 a0005c0004t0019g0029	2	174	0.0115	1124	c.148 others(1145): Show c.1482-25012_1482-25011insCACATCCACACACACAAACACACC CACACATCCACACAAACACACAAAGCACACGACACAGACTCACACTCACA AACACTACACCCACACATCCACACACAGACACAAACACACTCACACAGAC ACAAACACACACCCACACATCCACACAGACACACACACAAAACACACACA GCCACACACACCCACAGCCACCCATCTACACACAGACACACAAATACACC CACACATACACACAAACACACCCACAAACACAACACACCTACACATCCAC ACCCACACCCACACATCCACACACACACAAACACACAAATGAACACACAC ATCACACACAGTCACACAAACCCATACAACCGCATTCGCACACACAAACA CCCACACATACACACACACAAAACATCCACACACACACAAAACACGTCCA CATATCTACACACACTCACAAACACAAAACACACCCACATATACACACAC CCACACATCTACACACAAACACAAAAAACACACCCACACATCCACAAACA CACAAACACACCCACACATCCACACACACAGACACACCCACACATAAGCA CAGACACACACCCACACACAAAACACACCCACACATACACACAAACATAT AAAACACACCCACACATCCACACACAGACACACCACTGCACAAAACACCC CCACACAGACACACCCACACATCCACACAGACACACACTCAGAAACACAC AAAACACACCCACACATACACAGATACACAAACACACAAAACATACCCAC ACATCCACACACAGACACACAAAACACACCCGCACATCCACACACACAAA ACACACCCACACATCCACAGATACACAAACACACGAAACACACCCACACA TCCACACACAGACACACAAAACACACCCGCACATCCACACACACAAAAAC ACAAAACACACCCACACAGACACACAAACACACACCCACAGACACACAAA CACACACCCACACATTCACACACACACAAACATCCACACACACCCACACA TACACACAGACACACTCACAAACGCAACCACACACACGGACACACACAGA TACAATCACAGTCACACAAACCCACACAACCACACTTACGGACACACACA	TTLL11	ENSG00000175764.17	transcript	ENST00000321582.11	protein_coding	6/8			chr9	TogoVar
TTLL8_chr22_50013575_50063298	50029267	A A	ATCCTGAA others(1117): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACC CTCGTAAAGACCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAA GACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCA TCACACCGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCATCACAC CATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTG AAGACCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTGAAGACC CCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACAC ACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACACTCG TAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGAC CCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCA CACCGTCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACCAT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAG ACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCAC ACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAG ACCCCATCACACCGTCCTAAAGACCCCCACACACCCTCGTAAAGACCCCA TCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACC GTCCTGAAGACCCCACACACACTCGTAAAGACCCCCATCACACCGTCCTG AAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCC CCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACA CACTCGTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0163 a0003c0003t0001g0163	1	224	0.0045	1124	c.225 others(1143): Show c.2251+1162_2251+1163insCGGTGTGATGGGGTCTTTACGAGTGT GTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGG GGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTG TGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTC TTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA TGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGT GATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGG TCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTAC GAGTGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTG TGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGGTCTTTACGAGTGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGG TGTGATGGGGTCTTTACGAGGGTGTGTGGGGGTCTTTAGGACGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGTCTTTACGAGG GTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTT CAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
WDR81_chr17_1719704_1743585	1740324	A A	AGCCGGAC others(1117): Show AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAG TGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCA GGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGTAGGGAG TGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAG TCAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTGATGCAGGGAGTGAGG AGCAGGTGTGAGGGCGGGGAAGCGGCCTGATGCAGGGAGTGAGGCGCAGG ACACTGAGGGTGGGAAGGAGCCTGATTCAGGGAGTGAGGCGCAGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGG TGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGTACAGTGAGGGTGGGA AGGAGCCTGATGCAGGGAGTGAGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0062 a0003c0004t0003g0062	1	431	0.0023	1124	c.26 others(1135): Show c.2639_*2640insGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCA GGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGCGCCGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGG AGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCCG GACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGTAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTG ATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCA GGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAG TGAGGAGCAGGACAGTCAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGG CGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAG GACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAG TGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGG GTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGG AAGGAGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGA GCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCTG ATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGGAAGCGGCCTGATGCAG GGAGTGAGGCGCAGGACACTGAGGGTGGGAAGGAGCCTGATTCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGT ACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		1740		chr17	TogoVar
ZNF875_chr19_37329649_37369447	37359669	T T	TGGGATTA others(1117): Show TGGGATTACAGGCGTGAGCCACTGTGTCAGGCCGAAATATATAGTCTTTT ATACTTGGATTCTTTTGTTTAGCATAATGTTTTTGATGTTCATCCAAGTT GCAGCATGTATCAGTAATTCATTTTTTATTGCTATATAGTATTCCTTTGT ATGGATATACCACATTTTGTTTTTCTGTTTACCCATTGATGGACATGTGG ACTGTGTTCACTTTTTGGCTATTGTGAATAGTGTTGCTATGAACACTCAT ATACCAGTCTTAGTGTGGACATACGTTTTCATTTCTCTTGGGTAGATAAT TGGGAATATAATTGCTAAGGTTGTATGGTATGTTTATGTTTAACCTTTTT AAAAATTGGGACTGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGTTCAAGATGAGCCT GACCAACATGGTGAAACCCAATCTCTACTAAAAATACAAAAATTACCTGG GTGTGTTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGG AGAATCGCCTGAACCTGGGAGGTGGAGGTTGCAATGAGCCGAGATCGTGC CACTGCATTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAATAAA AAATAAAAATTGGAAAAATGTTTTTCAAAGTGCCTGTACCATTTTACATT TCGATTACCAATATATTAGGGTTTTAGTTTCTCCACGTCCTTGTCAGCAC TCGGTATTGTCACTGATTTTGATTATAGACATTCTAGTGGGTGTGTAGTG GTATTTCATTGTGCATTTAATGCATTTCCCGAATAGCTGATGATGTTGAT CTTTTCATTGTTTGTGTTTTTTTTGAGATGGAGTTTCGCTGTTGTTGCCC AGGCTGGAGTGCAATGGCGTGATCTCGACTCACTGCCACCTTCGCCTCTT GGGTTCAAGCAATTCTTCTGCTTCAGCTTCCGAGGTAGCTGGGATTACAG GCACCTGCCACCACACCCGACTAATTTTTGTATTTTTAGTAGAGACAGGG TTTCACCATGCTGGCCAGGCTGGTTGAGAACTCCTAACCTCAGGTGATTC ACCCACCTTGGCCTCCCAAAGTGCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01167.hp2 HG01169.hp1 others(11): Show HG00140.hp1 HG01167.hp2 HG01169.hp1 HG01928.hp1 HG01993.hp1 HG02004.hp1 HG02083.hp2 HG02132.hp1 HG02293.hp1 HG03491.hp2 HG04115.hp1 NA18978.hp1 NA18993.hp2 NA19082.hp2	a0002 a0007 a0002 a0007	a0002c0005 a0007c0009 a0002c0005 a0007c0009	a0002c0005t0003 a0007c0009t0001 a0002c0005t0003 a0007c0009t0001	a0002c0005t0003g0006 a0002c0005t0003g0058 a0002c0005t0003g0280 others(7): Show a0002c0005t0003g0006 a0002c0005t0003g0058 a0002c0005t0003g0280 a0002c0005t0003g0281 a0002c0005t0003g0282 a0002c0005t0003g0283 a0002c0005t0003g0284 a0007c0009t0001g0061 a0007c0009t0001g0062 a0007c0009t0001g0063	14	382	0.0367	1124	c.257 others(1141): Show c.257-2428_257-2427insGTGAGCCACTGTGTCAGGCCGAAATATA TAGTCTTTTATACTTGGATTCTTTTGTTTAGCATAATGTTTTTGATGTTC ATCCAAGTTGCAGCATGTATCAGTAATTCATTTTTTATTGCTATATAGTA TTCCTTTGTATGGATATACCACATTTTGTTTTTCTGTTTACCCATTGATG GACATGTGGACTGTGTTCACTTTTTGGCTATTGTGAATAGTGTTGCTATG AACACTCATATACCAGTCTTAGTGTGGACATACGTTTTCATTTCTCTTGG GTAGATAATTGGGAATATAATTGCTAAGGTTGTATGGTATGTTTATGTTT AACCTTTTTAAAAATTGGGACTGGGTGCAGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGTGGGTAGATCACCTGAGGTCAGGAGTTCAA GATGAGCCTGACCAACATGGTGAAACCCAATCTCTACTAAAAATACAAAA ATTACCTGGGTGTGTTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGC TGAGGCAGGAGAATCGCCTGAACCTGGGAGGTGGAGGTTGCAATGAGCCG AGATCGTGCCACTGCATTCCAGCCTGGGTGACAGAGTGAGACTCCATCTC AAAAATAAAAAATAAAAATTGGAAAAATGTTTTTCAAAGTGCCTGTACCA TTTTACATTTCGATTACCAATATATTAGGGTTTTAGTTTCTCCACGTCCT TGTCAGCACTCGGTATTGTCACTGATTTTGATTATAGACATTCTAGTGGG TGTGTAGTGGTATTTCATTGTGCATTTAATGCATTTCCCGAATAGCTGAT GATGTTGATCTTTTCATTGTTTGTGTTTTTTTTGAGATGGAGTTTCGCTG TTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTCGACTCACTGCCACCT TCGCCTCTTGGGTTCAAGCAATTCTTCTGCTTCAGCTTCCGAGGTAGCTG GGATTACAGGCACCTGCCACCACACCCGACTAATTTTTGTATTTTTAGTA GAGACAGGGTTTCACCATGCTGGCCAGGCTGGTTGAGAACTCCTAACCTC AGGTGATTCACCCACCTTGGCCTCCCAAAGTGCGGGGATTACAGGC	ZNF875	ENSG00000181666.19	transcript	ENST00000392153.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(1118): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCC TCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTTCTTCCCCGTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTT CCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTT CCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCC TCCCTCCCTTCCTTCCTTTCTTCCCCGTCCCCTCCCCTTCCCTTCCTTCT TTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCC TCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTC CTTCACTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCC TCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCT TCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCT TTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCT TCTTTTCCTTCCTTCACTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0092 a0001c0002t0002g0092	1	262	0.0038	1125	c.106 others(1144): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGAAGGAAAAGA AGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGA GGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAA AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA AGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGA AGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGA GGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAG GAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGA GGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAA AGAAGGAAGGGAAGGGGAGGGGACGGGGAAGAAAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGG AAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGG AAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGG AGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGACGGGGAAGAAAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGA GGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAA GGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(1118): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATATTAT ATACATATAATATATATTCTCATATATATTATATATACTCATATATATAA TATATATTCTCATATATATATTATATATTCTCATATATATAATATATATA TTCTCATATATAATATATATTCTCATATATATAATATATACTCATATATT ATATATATTCTCATATATTATATATATACTCATATATAATGTATATATTC TAATATATAATATATATTTTCTCATTTATATAATATATATTCTCATATAT AATATATATTCTCATATATGACATATTATATATATTCTCATATATATTAT ATATTCTCATATATATTATATATTCTCATATATAATATATATTCTCATAT AATATATTATATATTCTCATATAATATATTATATATTCTCATATAATATA TTATAAATTCTCATATAATATATTATATATTCTCATATATATTATATATT CTCATATATAATATATTATATATTCTCATATATAATATATTATATATGCT CATATATAATATATTATATATGCTCATATGTAATATATTATATATGCTCA TATGTAATATATTATATATGCTCATATGTAATATATTATATATGCTCATA TGTAATATATTATATATGCTCATATGTAATATATTATATATGCTCATATG TAATATATTATATATGCTCATATGTAATATATTATATATGCTCATATGTA ATATATTATATATGCTCATATGTAATATATTATATATGCTCATATGTAAT ATATTATATATGCTCATATATAATATATTATATATGCTCATATATAATAT ATATGCTCATATATATTATATATGCTCATATATAATATATTATATATGCT CATATATAATATATTATATATGCTCATATATAATATATTATATATGCTCA TATATAATATATTATATATGCTCATATATAATATATTATATATGCTCATA TATAATATATTATGTATGCTCATATATAATATATTATGTATGAGCATATA TAATATATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0000 a0002c0002t0008g0000	1	416	0.0024	1125	c.10 others(1138): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATATATAATATATTATATATGAGCATATATAATATATTATATATGAGCA TATATAATATATTATATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGCATATATAATATATATGAGCATATATATTA TATATGAGCATATATAATATATTATATATGAGCATATATAATATATTACA TATGAGCATATATAATATATTACATATGAGCATATATAATATATTACATA TGAGCATATATAATATATTACATATGAGCATATATAATATATTACATATG AGCATATATAATATATTACATATGAGCATATATAATATATTACATATGAG CATATATAATATATTACATATGAGCATATATAATATATTACATATGAGCA TATATAATATATTACATATGAGCATATATAATATATTATATATGAGCATA TATAATATATTATATATGAGAATATATAATATATTATATATGAGAATATA TAATATATATGAGAATATATAATATATTATATGAGAATTTATAATATATT ATATGAGAATATATAATATATTATATGAGAATATATAATATATTATATGA GAATATATATTATATATGAGAATATATAATATATATGAGAATATATAATA TATATGAGAATATATATAATATGTCATATATGAGAATATATATTATATAT GAGAATATATATTATATAAATGAGAAAATATATATTATATATTAGAATAT ATACATTATATATGAGTATATATATAATATATGAGAATATATATAATATA TGAGTATATATTATATATATGAGAATATATATTATATATGAGAATATATA TATTATATATATGAGAATATATAATATATATATGAGAATATATATTATAT ATATGAGTATATATAATATATATGAGAATATATATTATATGTATATAATA TATATAATATATAATATATAATATATACATATATACATATAATATATAAA CATATAATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ARHGAP19_chr10_97217179_97297637	97251510	G G	GAAGGAAG others(1118): Show GAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGG AAGGGAAGGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAGAAAAGGAAGG GAAGGGGAAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAGGAAGGAGAAG AGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAGAAAGGGAGAG GGAGGGGGCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAGGGGAAGGA AGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGAAAGGGAAGGGGGA GGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGG GGAAGGGGGAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGGAGGGG GAGGGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGAAAGGAAAGGGGAATG GAAGGGAAGGGAAAGGAAGGGGAAGGGAAGGGGAAGGGGAGGAGAAGGGG AAGGGGAAGGGAAAAGGAAGGAGAAGAGGAAGGGAAGGGGAGGGGAAGGC AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAGGGGAAGGGGA AGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAGGGA AGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGG AGGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGAGGGAAGGGAAGGTGGAA GGAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAG GGAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGGAAGGGAAAGGAAG GGGGAGGGAAAGGAAAGGGGAAGGGAAGGGAAGGGGAAGGGAAGAGAAAG GAAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAGGGAAAAGGAGAA GAAGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAAGGAAGGAAGGGGGAGG GGAAAGGAAGGAAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGG GAGGGGAAGGGAAAGGGAAGGGGAAGATGAAGGGGAAGGGAAAAGGAAGG AGAAGAGGAGGGGAAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	242	0.0041	1125	c.927 others(1142): Show c.927+4807_927+4808insTTCCCCTCCCCTTCCCCTCCTCTTCTCC TTCCTTTTCCCTTCCCCTTCATCTTCCCCTTCCCTTTCCCTTCCCCTCCC CTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTTCCTTCCTTTCCCC TCCCCCTTCCTTCCTTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCTTCTT CTCCTTTTCCCTTCCCCTTCCCCTCCCCTTCTCCTTCCCTTCCCCTTCCT TTCTCTTCCCTTCCCCTTCCCTTCCCTTCCCCTTTCCTTTCCCTCCCCCT TCCTTTCCCTTCCCCTTCCTTTCCCTTTCCCCTTCCCCTCCCCCTTCCCT TTCCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCCCTTCCCCTTCCTT CCACCTTCCCTTCCCTCCCTTCCTTTCCCCTTCCCCTCCCCTTCCCCTCC CCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTC CCTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTC CCCTTCCCCTCCCCTTCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCTTGC CTTCCCCTCCCCTTCCCTTCCTCTTCTCCTTCCTTTTCCCTTCCCCTTCC CCTTCTCCTCCCCTTCCCCTTCCCTTCCCCTTCCTTTCCCTTCCCTTCCA TTCCCCTTTCCTTTCCCTCCCCCTTCCCCTTCCTTTCCCCTTCCCCTCCC CCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTCCCCCTTCCCC TCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTC CCCCTTCCCTTTCCTTCCCTTCCCCTTCCCCTTCCTTTCCATTCCCCTTC CTTCCCCTTCCTTCCTCTTCCATTCCCCTTCCCTTCCCTGCCCCCTCCCT CTCCCTTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCCCTTCCCCTCCTCT TCTCCTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTCCCTTCCCCTTCCC TTCCTTTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTCCCCTTCCCTTCC CCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTCCCCCTTCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ASAP2_chr2_9201812_9410678	9400249	T T	TTCCCCTC others(1118): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTT CCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCC CCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCC TGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCC CCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCT GCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCC TCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGC CCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCC CTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTG CCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCC CCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCT GCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCC TGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCC TCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCC TGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCC CCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCC CCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTG CCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCC CCTCCCCTCCTCCCCTCCTGCCCCCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp1 HG02486.hp2 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0015 a0001c0007t0004g0154 a0001c0007t0004g0015 a0001c0007t0004g0154	2	210	0.0095	1125	c.273 others(1142): Show c.2734+190_2734+191insCCTTCCCCTCCTGCCCTCCTGCCCCCTC CCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCC CCTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCT GCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCC TCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCT TCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCC CTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCT CCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGC CCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTC CTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCC CCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCT CCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTC CCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCC TCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCT CCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCC CTCCTGCCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCC TCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCC CCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCC TCCCCTCCTGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGT ACCCCTCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCC TCCTGCCCCCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTC CCCTCCTGCCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCT CCTGCCCCCCTCCCCTCCTCCCCTCCTGCCCCCCTCCCCTCCTGCCC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	25/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
CDHR2_chr5_176544342_176600824	176591775	G G	GTTGTGAT others(1118): Show GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGT GATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGA GGTGATGGTGATGGTTGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0160 a0001c0003t0001g0160	1	344	0.0029	1125	c.373 others(1142): Show c.3734+292_3734+293insTGTGATGGTGATGGTGGTGATGATGGTG TTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATG GTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATG ATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTG ATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTG GTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATG GTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTG ATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATG GTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTG GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTGGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDHR2_chr5_176544342_176600824	176591775	G G	GTTGTGAT others(1118): Show GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGT GATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGA GGTGATGGTGATGGTTGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02622.hp2 HG02895.hp2 others(4): Show HG01361.hp1 HG02622.hp2 HG02895.hp2 HG03225.hp1 HG03471.hp2 NA18906.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0002c0057 a0001c0003 a0002c0001 a0002c0057	a0001c0003t0001 a0002c0001t0001 a0002c0057t0001 a0001c0003t0001 a0002c0001t0001 a0002c0057t0001	a0001c0003t0001g0301 a0002c0001t0001g0025 a0002c0001t0001g0028 others(4): Show a0001c0003t0001g0301 a0002c0001t0001g0025 a0002c0001t0001g0028 a0002c0001t0001g0030 a0002c0001t0001g0075 a0002c0001t0001g0133 a0002c0057t0001g0131	7	344	0.0204	1125	c.373 others(1142): Show c.3734+292_3734+293insTGTGATGGTGATGGTGGTGATGATGGTG TTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATG GTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATG ATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTG ATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTG GTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATG GTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTG ATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATG GTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT	CDHR2	ENSG00000074276.11	transcript	ENST00000261944.10	protein_coding	30/31		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPM_chr22_41933737_41952152	41939840	A A	AAAAGAAG others(1118): Show AAAAGAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAG AAAGAAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAG AAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAA AGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAA AGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAA AGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAA AGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAG AAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAA AGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAA AAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA AGAGAAAGAAAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGAAAG AAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAA AGAAAAAGAAAGAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0179 a0001c0004t0003g0179	1	258	0.0039	1125	c.403 others(1140): Show c.403-645_403-644insCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTT CTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTTTCTTTCTCTTTCT TTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCT TTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCT CTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTTT CTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTT CTTTCTTTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTTCTTT CTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTT TTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CHL1_chr3_191763_414417	261941	G G	GTACTTAC others(1118): Show GTACTTACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACT CACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAG GGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAG GATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTC ACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACG TTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAA GCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCA GATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCT ACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACA GTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACT CACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAG GGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAG GATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTC ACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACG TTTAAGCCTAGATCTACACAGTACTCCCAGGGCAGGATTCACACGTTTAA GCCTAGATCTACACAGTACTCCCAGGGCAGGATTCACACGTTTAAGCCTA GATCTACACAGTACTCCCAGGGCAGGATTCACACGTTTAAGCCTAGATCT ACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACA GTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACT CACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAG GGCAGGATTCACACGTTTAAACCTAGATCTACACAGTACTCACAGGGCAG GATTTACACGTTTAAGCCTAGATCTACATAGTACTCACAGGGCAGGATTC ACACGTTTAAGCCTAGATCTACACAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0231 a0002c0002t0006g0231	1	290	0.0035	1125	c.-95 others(1144): Show c.-95+17253_-95+17254insTACAGGGCAGGATTCACACGTTTAAG CCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAG ATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTA CACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAG TACTCACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTC ACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGG GCAGGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGG ATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCA CACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGT TTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAG CCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAG ATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTA CACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAG TACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTC ACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCCCAGG GCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCCCAGGGCAGG ATTCACACGTTTAAGCCTAGATCTACACAGTACTCCCAGGGCAGGATTCA CACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGT TTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAG CCCAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCCAG ATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAACCTAGATCTA CACAGTACTCACAGGGCAGGATTTACACGTTTAAGCCTAGATCTACATAG TACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAATACT	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1118): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGG AGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAG GAGGAGGGAGGAGGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAG GAGGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGG AGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAG GGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGGGAG GAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAG GGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGG AGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGG AGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGGAGGAGGGAGGAGGAGGAGGGAGGGAGG AGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGG AGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAA GGAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGA GAAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGGGG AGGAGGGAGGAGGGAGGAGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0183 a0002c0183	a0002c0183t0001 a0002c0183t0001	a0002c0183t0001g0151 a0002c0183t0001g0151	1	252	0.0040	1125	c.118 others(1144): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCTCCTCCCTCCT CCCCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTTC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTCCTCC TTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCT CCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCCTCCCTCCTCCTCCTCCCTCCTCCCTCCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCT CCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCT CCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCC CTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCTCCTC CTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCC CTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCCTC CTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCCTCCTCCCTCCTC CTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCT CCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1118): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGA GGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAG GAGGGGGGAGGAGGAGGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGA GGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGA GGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAG GGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAG GAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGG AGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGA GGAGGAGGGAGGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGG AGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGG AGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGG AGGAGGGAGGAGGAGGAGGGAGAAGGAGGAGGGAGGAGGAGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGGAGGAGGGAGAGGGAGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGGGGAGGAGGGAGGAGG GAGGGGGAGGAGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAG GGAGGAGGAGGAGGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0053 a0053	a0053c0141 a0053c0141	a0053c0141t0001 a0053c0141t0001	a0053c0141t0001g0160 a0053c0141t0001g0160	1	252	0.0040	1125	c.118 others(1144): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCCCCTCCTCCCCCTC CCTCCTCCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCC TCCTCCTCCTCCTCCCTCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCC TCCTCCCTCCTCCTCCTCCCTCCTCCTTCTCCCTCCTCCTCCTCCCTCCT CCTTCCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCT CCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCT CCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCT CCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCCTCCCTCCTCC TCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCT CCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTC CTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCC CTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCC TCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCC TCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTC CTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCC TCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCTCCTCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586501	G G	GGGGGGGA others(1118): Show GGGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTGGGCGG GGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTGGGCGGG GGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGG GGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTCAAAGGTGGGCAGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTGAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0295 a0001c0001t0003g0295	1	308	0.0033	1125	c.157 others(1142): Show c.1576+322_1576+323insGGACCACAGGGAGGTCAAAGGTGGGCGG GGGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTGGGCGGG GGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGG GGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAG GAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTCAAAGGTGGGCAGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGAAAGGAGGAGAGGGGA GACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGA CCACAGGGAGGTGAAAGGTGGGCAGTGGGGGGAAAGGAGGAGAGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GALNT9_chr12_132191372_132334589	132241178	A A	AGGGACCC others(1118): Show AGGGACCCTCCCTATACCCATTACACACACAACACCCCCTTCCCAGGGAC CCTCCCTATACCCATTACACACACAACACACCCCCTTCCTGGGGCCGTCC CTATACCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCTTATA CCCATTACACACACAACACACCCCCTTCCTGGGGCCGTCCCTATACCCAT TACACACACAACACACCCCCTTCCTGGGGCCCTCCCTATACCCATTACAC ACACAACACACACCCTTCCCAGGGCCCTCCCTATACCCATTACACACACA ACACACCCCCTTCCTGGGGCCGTCCCTATACCCATTACACACACACCACA CACCCTTCCAGGGGCCCTCCCTATACCCATTACACACACAACACACCCCT TTCCTGGGGCCGTCCCTATACCCATTACACACACAACACACCCCCTTCCT GGGGCCCTCCGTATACCCATTACACACACAACACACACCCTTCCCGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCAGGGGCCCTCC CTATACCCATTACACACACAACACACCCCCTTCCTGGGGCCGTCCCTATA CCCATTACACACACAACACACCCCCTTCCTGGGGCCCTCCCTATACCCAT TACACACACAACACACACCCTTCCCAGGGCCCTCCCTATACCCATTACAC ACACAACACACACACTTCCAGGGGCCCTCCCTATACCCATTACACACACA ACACACCCCCTTCCAGGGGCCCTCCCTATACCCATTACACACACGCCACA CCCCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACACCC TTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCC AGGGACCTCCCTATACCCATTACACACACAACACACACCCTTCCAGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCC CTATACCCATTACACACACGCCACACACCCTTCCAGGGGCCCTCCCTATA CCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCCCTATACCCAT TACACACACGCCACACACCCTTCCCG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0074 a0001c0014t0003g0074	1	183	0.0055	1125	c.107 others(1144): Show c.1077+6731_1077+6732insCGGGAAGGGTGTGTGGCGTGTGTGTA ATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGG TATAGGGAGGGCCCCTGGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAG GGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGTCCCT GGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAA GGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGG TGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGT TGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGTGTGTGTGTTGTGT GTGTAATGGGTATAGGGAGGGCCCTGGGAAGGGTGTGTGTTGTGTGTGTA ATGGGTATAGGGAGGGCCCCAGGAAGGGGGTGTGTTGTGTGTGTAATGGG TATAGGGACGGCCCCAGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAG GGAGGGCCCCTGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGG GCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATACGGAGGGCCCC AGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGACGGCCCCAGGAA AGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGTG TGTGGTGTGTGTGTAATGGGTATAGGGACGGCCCCAGGAAGGGGGTGTGT TGTGTGTGTAATGGGTATAGGGAGGGCCCTGGGAAGGGTGTGTGTTGTGT GTGTAATGGGTATAGGGAGGGCCCCAGGAAGGGGGTGTGTTGTGTGTGTA ATGGGTATAGGGACGGCCCCAGGAAGGGGGTGTGTTGTGTGTGTAATGGG TATAAGGAGGGCCCCTGGAAGGGTGTGTGGTGTGTGTGTAATGGGTATAG GGACGGCCCCAGGAAGGGGGTGTGTTGTGTGTGTAATGGGTATAGGGAGG GTCCCTGGGAAGGGGGTGTTGTGTGTGTAATGGGTATAGGGAGGGTCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GPRIN1_chr5_176590802_176615156	176591775	G G	GTTGTGAT others(1118): Show GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTGGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGT GATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGA GGTGATGGTGATGGTTGTGATGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02738.hp1 HG02135.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	2	397	0.0050	1125	c.50 others(1136): Show c.5032_*5033insTCACCATCACAACCATCACCATCACCTCAACACC AACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAAC ACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTC AACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCAC CTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCAT CACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAAC CATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCAC AACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCAT CACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCAC CATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCAT CACCATCACCACCATCACCATCACCTCAACACCAACACCATCATCACCAC CATCACCATCACCACCATCACCATCACCTCAACACCAACACCATCATCAC CACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCAT CACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCAT CATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACAC CATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAA CACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACAC CAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAA CACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCT CAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCA CCTCAACACCAACACCATCATCACCACCATCACCATCACAA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4026		chr5	TogoVar
GPRIN1_chr5_176590802_176615156	176591775	G G	GTTGTGAT others(1118): Show GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGT GATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGT TGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGAT GGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGT GATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGAT GGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGT GATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGA GGTGATGGTGATGGTTGTGATGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03225.hp1 HG03471.hp2 others(1): Show HG02622.hp2 HG03225.hp1 HG03471.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0002c0009 a0001c0003 a0002c0002 a0002c0009	a0001c0003t0001 a0002c0002t0001 a0002c0009t0001 a0001c0003t0001 a0002c0002t0001 a0002c0009t0001	a0001c0003t0001g0126 a0002c0002t0001g0004 a0002c0002t0001g0006 others(1): Show a0001c0003t0001g0126 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0009t0001g0093	4	397	0.0101	1125	c.50 others(1136): Show c.5032_*5033insTCACCATCACAACCATCACCATCACCTCAACACC AACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAAC ACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTC AACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCAC CTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCAT CACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAAC CATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCAC AACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCAT CACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCAC CATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCAT CACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCAC CATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCAC CACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCAT CACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCAT CATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAACAC CATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACACCAA CACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAACAC CAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAA CACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCT CAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCA CCTCAACACCAACACCATCATCACCACCATCACCATCACAA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4026		chr5	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(1118): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGA CGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT CCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCA CTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCT CCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGT GGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACCTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACCTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0346 a0002c0010t0002g0346	1	408	0.0025	1125	c.633 others(1142): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCC TGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTC CTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTG GACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCC TCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGG ACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCT CCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACG CCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTC TCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACCTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCC TGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACT CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCT GCGTGGACGCCCCACCTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPCAL1_chr2_10297904_10432604	10399220	C C	CCACCACC others(1118): Show CCACCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCAC CACCATCACCACCACCACCATCACCGCCACCACCATCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCATCACCATCACCATCACCGCC ACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCATCAT CACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCA CCACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACC ATCACCACCACCACCACCACCACCACCACCACCACCACCATCACCATCAT CACCACCACCACCACCACCACCACCACCATCACCATCATCACCACCACCA CCACCACCACCGCCACCACCACCACCATCACCGCCACCACCATCACCATC ACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCGCCAC CACCATCACCATCATCACCACCACCACCACCATCACCACCACCACCACCA CCACCGCCACCACCACCACCATCACCGCCACCACCACCACCATCACCACC ACCACCATCACCATCACCACCACCACCACCACCACCACCACCGCCACCAC CACCACCACCACCACCATCACCACCACCACCACCATCACCACCGCCACCA CCACCACCATCACCACCACCACCATCACCATCATCACCACCACCACCACC ACCATCACCACCACCATCACCACCATCACCACCACCATCACCACCGCCAC CACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA CCATCACCACCACCATCATGACCACCATCACCACCACCATCATCACCACC ATCACCACCGCCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCACCATCACCACCACCATCATCACCACCATCACCACCA CCATCATCACCACCATCATCACCACCATCACCACCACCATCATCACCACC ATCACCACCGCCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	314	0.0032	1125	c.-25 others(1142): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCATCATCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCGCCACCACCATCAC CATCACCACCACCACCACCACCACCATCACCACCACCACCATCACCATCA CCATCACCGCCACCACCATCACCACCACCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCACCACCACCACCACCACCACCATCACCAT CATCACCACCACCACCACCACCACCGCCACCACCACCACCATCACCGCCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCATCATCACCACCACCACCACCACCACCACCACCATCACCATCAT CACCACCACCACCACCACCACCGCCACCACCACCACCATCACCGCCACCA CCATCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCGCCACCACCATCACCATCATCACCACCACCACCACCATCACCAC CACCACCACCACCACCGCCACCACCACCACCATCACCGCCACCACCACCA CCATCACCACCACCACCATCACCATCACCACCACCACCACCACCACCACC ACCGCCACCACCACCACCACCACCACCATCACCACCACCACCACCATCAC CACCGCCACCACCACCACCATCACCACCACCACCATCACCATCATCACCA CCACCACCACCACCATCACCACCACCATCACCACCATCACCACCACCATC ACCACCGCCACCACCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCACCACCATCACCACCACCATCATGACCACCATCACCACCACCA TCATCACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCATCATCACCAC CATCACCACCACCATCATCACCACCATCATCACCACCATCACCACCACCA TCATCACCACCATCACCACCGCCACCACCACCACCATCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399332	C C	CATCACCA others(1118): Show CATCACCATCATCACCGCCGCCACCACCACCACCATCACCATCACCACCA CCACCACCACCACCATCACCATCATCACCACCACCATCACCATCACCACC ACCACCACCACCACCACCACCATCACCACCACCATCACCATCACCACCAC CACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCACCA TCACCACCGCCACCATCACCACCACCACCACCATCACCACCATCACCACC ACCACCATCACCACCACCATCACCATCACCACCACCACCACCACCACCAT CACCATCATCACCACCACCACCACCACCACCACCATCACCACCGCCACCA TCACCACCACCACCACCATCACCACCACCATCACCACCATCACCATCATC ACCGCCACCACCACCACCACCACCGCCGCCGCCGCCGCCACCGCCGCCAC CACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCA TCACCACCACCACCACCACCACCATCACCATCATCACCACCACCATCACC ATCACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCAT CACCACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCA CCACCACCATCACCACCGCCACCATCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCAC CACCACCATCACCATCATCACCACCACCACCACCACCACCACCATCACCA TCATCACCGCCACCACCACCACCACCATCACCATCATCACCACCACCACC ACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCACCAT CATCACCACCACCACCACCACCACCATCACCATCATCACCGCCACCACCA CCACCACCATCACCATCATCACCGCCACCACCACCACCATCACCATCATC ACCGCCGCCACCACCACCACCATCACCATCATCACCGCCACCACCACCAC CACCATCACCACCACAACCACCACCACCACCACCATCACCACCACTACCA CCACCACCACCACCATCACCACCACT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19010.hp2 NA19077.hp2 NA18982.hp1 NA19010.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0094	3	314	0.0096	1125	c.-25 others(1142): Show c.-25+2413_-25+2414insTCACCATCATCACCGCCGCCACCACCAC CACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCA CCACCATCACCATCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCACCACCATCACCATCATCACCAC CACCACCACCACCACCACCATCACCACCGCCACCATCACCACCACCACCA CCATCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACC ACCACCACCACCACCACCATCACCATCATCACCACCACCACCACCACCAC CACCATCACCACCGCCACCATCACCACCACCACCACCATCACCACCACCA TCACCACCATCACCATCATCACCGCCACCACCACCACCACCACCGCCGCC GCCGCCGCCACCGCCGCCACCACCACCACCATCACCATCATCACCGCCGC CACCACCACCACCATCACCATCACCACCACCACCACCACCACCATCACCA TCATCACCACCACCATCACCATCACCACCACCACCACCACCACCACCACC ATCACCACCACCATCACCATCACCACCACCACCACCACCACCATCACCAT CATCACCACCACCACCACCACCACCACCATCACCACCGCCACCATCACCA CCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCATC ACCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACCAC CACCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCATCA CCATCATCACCACCACCACCACCACCACCATCACCATCATCACCACCACC ACCACCACCACCATCACCATCATCACCACCACCACCACCACCACCATCAC CATCATCACCGCCACCACCACCACCACCATCACCATCATCACCGCCACCA CCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCACCATC ATCACCGCCACCACCACCACCACCATCACCACCACAACCACCACCACCAC CACCATCACCACCACTACCACCACCACCACCACCATCACCACCACTA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
INS_chr11_2154779_2166209	2161862	C C	CACCCCTG others(1118): Show CACCCCTGTCCCCCGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCC ACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCC TATCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCC ACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCAGGACCC CTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC AGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCC TGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCA GGACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCAGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCT GTCCCCAGACCCCTGTCCCCACACCCCGGTCCCCACACCCCTGTCCCCGG GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCGG GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGG ACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGT CCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGA CCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTC CCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	376	0.0027	1125	c.-71 others(1134): Show c.-713_-712insCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACA GGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGT GGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCCTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAG GGGTGTGGGGACCGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCCCG GGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGG GGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGG GGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCCTGGGGACAGG GGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCCTGG GGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCTGGGGACAGGG GTGTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTCCTGGG GACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGG GTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGATAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGG GTCCTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGG GGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGT	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		654		chr11	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TTCCCCTC others(1118): Show TTCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTG CCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTT CCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCC CCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTTCCCCTCC TGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCC CCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCT GCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCCTCC CCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCC TCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGC CCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCC CTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTG CCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCC CCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCCTCCT GCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCC CCCCTCCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCC TGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCCCTCCCC TCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCC TGCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCC CCCCTCCCCTCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCC CCTGCCCCCCTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTG CCCCCTCCCCTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCC CCTCCCCTCCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02922.hp1 HG02486.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	276	0.0073	1125	c.65 others(1136): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGCAGG AGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGGG GAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGGA GGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGGT ACAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAAGGGGCAGGAGGGGA GGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGG GGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGA GGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGGCAGGAG GGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGG AGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGA GGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGG GAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGG AGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGG GGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAG GAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGG GCAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGG AGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAG GGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGA AGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGA GGGGAGGGGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGC AGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGG GGGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGG GAGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGA	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
LRRC7_chr1_69562922_70149364	69916109	T T	TATATATA others(1118): Show TATATATATTATATACATATTTTGTATATATAATATATATTATATACATA TTTTATATATATAATATATATATTATATACATATTTTATATATATAATAT ATATATTATATACATATTTTATATATATAATATATATAATATACATATTT TATATATAATATATATTATATACATATTTTATATATATTATATATTATAT ACATATTTTATATATATAATATATATATTATATACATATTTCATATATAT AATATATATTATATACATATTTCATATATAATATATATATTATATACATA TTTTATATATTATATATTATATACATATTTTATATATTATATATTATATA CATATTTTATATATTATATATATTATATACATATTTTATATATAATATAT ATAATATACATATTTTATATATTATATATATTATATACATATTTTATATA TAATATATATAATATACATATTTTATATATAATATACATATTTTATATAT AATATATATAATATACATATTTTATATATATAATATATATAATATACATA TTTTATATATATAATATATATAATATACATATTTTATATATATAATATAT ATAATATACATATTTTATATATATAATATATATAATATACATATTTTATA TATAATATATATAATATATATAATATACATATTTTATATATATAATATAT ATAATATACATATTTTATATATATAATATATATAATATACATATTTTATA TATATAATATATATAATATACATATTTTATATATAATATATATTATATAC ATATTTTATATATATAATATATATTATATACATATTTTATATATATAATA TATATTATATACATATTTTATATATATAATATATATTATATACATATTTT ATATATATAATATATATTATATACATATTTTATATATATAATATATATTA TATACATATTTTATATATATAATATATATTATATACATATTTTATATATA TAATATATATTATATACATATTTTATATATATAATATATATTATATACAT ATTTTATATATATAATATATATTATATACATATTTTATATATATAATATA TATTATATACATATTTTATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0022 a0001c0001t0003g0022	1	108	0.0093	1125	c.648 others(1144): Show c.648-15376_648-15375insGTATATATAATATATATTATATACAT ATTTTATATATATAATATATATATTATATACATATTTTATATATATAATA TATATATTATATACATATTTTATATATATAATATATATAATATACATATT TTATATATAATATATATTATATACATATTTTATATATATTATATATTATA TACATATTTTATATATATAATATATATATTATATACATATTTCATATATA TAATATATATTATATACATATTTCATATATAATATATATATTATATACAT ATTTTATATATTATATATTATATACATATTTTATATATTATATATTATAT ACATATTTTATATATTATATATATTATATACATATTTTATATATAATATA TATAATATACATATTTTATATATTATATATATTATATACATATTTTATAT ATAATATATATAATATACATATTTTATATATAATATACATATTTTATATA TAATATATATAATATACATATTTTATATATATAATATATATAATATACAT ATTTTATATATATAATATATATAATATACATATTTTATATATATAATATA TATAATATACATATTTTATATATATAATATATATAATATACATATTTTAT ATATAATATATATAATATATATAATATACATATTTTATATATATAATATA TATAATATACATATTTTATATATATAATATATATAATATACATATTTTAT ATATATAATATATATAATATACATATTTTATATATAATATATATTATATA CATATTTTATATATATAATATATATTATATACATATTTTATATATATAAT ATATATTATATACATATTTTATATATATAATATATATTATATACATATTT TATATATATAATATATATTATATACATATTTTATATATATAATATATATT ATATACATATTTTATATATATAATATATATTATATACATATTTTATATAT ATAATATATATTATATACATATTTTATATATATAATATATATTATATACA TATTTTATATATATAATATATATTATATACATATTTTATATATATAATAT ATATTATATACATATTTTATATATATAATATATATTATATACATATTTT	LRRC7	ENSG00000033122.21	transcript	ENST00000651989.2	protein_coding	7/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579131	A A	ACCACCAT others(1118): Show ACCACCATCACCACCACCACCCTTCACCACCACCACCACCACCACCACCA TCACCACCACCACCCTTCACCACCATCACCACCACCACCATCACCACCAC CATCACCATCACCACCACCACCATCACCACCATCACCATCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACCA CCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCATCACCACCACCACCATCACCA CCACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCACCACCATCACCACCACCATCAC CACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCA CCATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCA TCACCATCACCACCACCACCATCACCACCATCACCACCACCACCACCACC ACCATCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	362	0.0028	1125	c.391 others(1140): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ATCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCATC ACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCATCACCACCACCACCACCATCACCACCACCATCACCACCACCACC ATCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCACC ACCACCATCACCACCACCACCACCATCACCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCATCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCATCACCACCACCACCACCACCATCACCACCATCAC CACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCA CCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCATCCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MED16_chr19_862963_898187	871891	C C	CGGGGAGA others(1118): Show CGGGGAGAGAGGGGAGCGGGGAGCGGGGAGCGGGGAGCGGGGAGAGAGGA GAGAGGGGAGCGGGGAGAGAGAGGAGAGGGGAGCGGGGAGCGGGGAGAGA GGGGAGCGGGGAGGAGAGAGGGGAGCGGGGGAGGAGAGAGGGGAGCGGGG AGGAGAGAGGGGAGCGGGGAGGAGAGAGGGGAGCGGGGAGGAGAGAGGGG AGCGGGAGGAGAGAGGGGAGGAGAGAGGGGAGGAGAGAGGGGAGGAGAGA GGGGAGGAGAGAGGGGAGGAGAGAGGGGAGGAGAGAGGGGAGGAGAGAGG GGAGGAGAGAGGGGAGGAGAGGGGAGGAGAGAGGGGGAGCGGGGAGGAGA GAGGGAGCGGGGAGGAGAGAGGGGAGGAGAGAGGGGAGCGGGGAGGAGAG AGGGGAGCGGGGAGGAGAGAGGGGAGCGGGGAGGAGCGGGGAGGAGCGGG GGGGAGCGGGGAGGAGCGGGGGGGAGCGGGGAGGAGCGGGGGGGAGCGGG GAGGAGCGGGGGGGAGCGGGGAGGAGCGGGGGGAGCGGGGAGGGCGGGGG GGGAGCGGGGGGGAGGGGGGCGGGGGGAGAGCGGGGAGGGGCGGGGGGGA GCGGGGAGGGGCGGGGGGGAGCGGGGGAGGGGCGGCGGGGGAGCGGGGGG AGGGGCGGGGCGGGAGCGGGGAGGGGCGGGGGCGGGGGCGGGGAGGGGCG GGGGGCGGGGAGGGGCGGGGGCGGGGAGGGCGGGGGGCGGGGAGGGGGCG GGGGCGGGGCGGGGGAGGGGCGGGGGCGGCGGGGGGGAGAGGGGCGGGGG CGGCGGGGGGGAGAGGGGCGGGGGGAGAGGGGCGGGGGGGAGAGGGGCGG GGCGGCGGGGGAGGGGAGAGGGGCGGGGCGGGCGGGGGGGAGAGGGGAGG GGCGGGCGGGGGGGAGAGGGGAGGGGCGGGCGGGGGGGAGAGGGGAGGGG CGGGCGGGGGGAGAGGGGAGGGGCGGGCGGGGGGGAGAGGGGAGGGGCGG GCGGGGGGGAGAGGGGAGGGGCGGGCGGGGGGGAGAGGGGAGGGGCGGGC GGGGGGGGAGAGGGGAGGGGGCGGGCGGGGGGAGAGGGGAGGGGCGGGCG GGGGGGAGAGGGGAGGGGCGGGCGGG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	56	0.0179	1125	c.209 others(1140): Show c.2098+34_2098+35insCCCGCCCGCCCCTCCCCTCTCCCCCCCGCC CGCCCCTCCCCTCTCCCCCCGCCCGCCCCCTCCCCTCTCCCCCCCCGCCC GCCCCTCCCCTCTCCCCCCCGCCCGCCCCTCCCCTCTCCCCCCCGCCCGC CCCTCCCCTCTCCCCCCCGCCCGCCCCTCCCCTCTCCCCCCGCCCGCCCC TCCCCTCTCCCCCCCGCCCGCCCCTCCCCTCTCCCCCCCGCCCGCCCCTC CCCTCTCCCCCCCGCCCGCCCCGCCCCTCTCCCCTCCCCCGCCGCCCCGC CCCTCTCCCCCCCGCCCCTCTCCCCCCGCCCCTCTCCCCCCCGCCGCCCC CGCCCCTCTCCCCCCCGCCGCCCCCGCCCCTCCCCCGCCCCGCCCCCGCC CCCTCCCCGCCCCCCGCCCTCCCCGCCCCCGCCCCTCCCCGCCCCCCGCC CCTCCCCGCCCCCGCCCCCGCCCCTCCCCGCTCCCGCCCCGCCCCTCCCC CCGCTCCCCCGCCGCCCCTCCCCCGCTCCCCCCCGCCCCTCCCCGCTCCC CCCCGCCCCTCCCCGCTCTCCCCCCGCCCCCCTCCCCCCCGCTCCCCCCC CGCCCTCCCCGCTCCCCCCGCTCCTCCCCGCTCCCCCCCGCTCCTCCCCG CTCCCCCCCGCTCCTCCCCGCTCCCCCCCGCTCCTCCCCGCTCCCCCCCG CTCCTCCCCGCTCCTCCCCGCTCCCCTCTCTCCTCCCCGCTCCCCTCTCT CCTCCCCGCTCCCCTCTCTCCTCCCCTCTCTCCTCCCCGCTCCCTCTCTC CTCCCCGCTCCCCCTCTCTCCTCCCCTCTCCTCCCCTCTCTCCTCCCCTC TCTCCTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCTC TCCTCCCCTCTCTCCTCCCCTCTCTCCTCCCCTCTCTCCTCCCGCTCCCC TCTCTCCTCCCCGCTCCCCTCTCTCCTCCCCGCTCCCCTCTCTCCTCCCC GCTCCCCTCTCTCCTCCCCCGCTCCCCTCTCTCCTCCCCGCTCCCCTCTC TCCCCGCTCCCCGCTCCCCTCTCCTCTCTCTCCCCGCTCCCCTCTCTCCT CTCTCCCCGCTCCCCGCTCCCCGCTCCCCGCTCCCCTCTCTCCCC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding	12/15			chr19	TogoVar
MICAL3_chr22_17782649_18029561	17877180	G G	GGGAGGTT others(1118): Show GGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGATTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAAGT TATGGAGGTTATGGCAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGG AGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTT ATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGA AGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTGAGGGAGGTTA TGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAG GTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGATTAT GGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAAGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT ATGGCAGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTA TGGAGGTTAGGGAGATTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGG TGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATG GAGGTTAGGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0017 a0017	a0017c0052 a0017c0052	a0017c0052t0001 a0017c0052t0001	a0017c0052t0001g0090 a0017c0052t0001g0090	1	274	0.0037	1125	c.224 others(1144): Show c.2242-5158_2242-5157insATAACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCA CCTCCATAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTAACCTCCATAACCTCCCTCACCTCCATAATCTCCCTAACCTCCA TAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACTGCCAT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTC CCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACTTCCCTAA CCTCCTTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCC ATAATCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCAC CTCCCTAACCTCCATAATCTCCCTAACCTCCATAACCTCCCTCACCTCCA TAACCTCCCTCACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACT TCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCAT AACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCT CCCTAACCTCCATAACCTCCCTCACCTCCATAACTGCCATAACCTCCATA ACTTCCCTAACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAACCTC CATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAATCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCC ATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAC CTCCCTCACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877396	G G	GGGAAGTT others(1118): Show GGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAA GTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAG GGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGG AAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGAGAAGTT ATGGAGGTTAGGGAGGTTATGAAGGTTAGGGAGGTTACGGAGGTTATGGA GGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAA GTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAAGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAAGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGG AAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGG TGAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATG GAGGTTATGGAGGTTAGGGAGGTTAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	274	0.0037	1125	c.224 others(1144): Show c.2242-5374_2242-5373insATAACCTCCCTAACCTCCATAACCTC CATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTCA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACC TCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCT AACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTT CCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATA ACTTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACTTC CCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAA CCTCCATAACTTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAAC TTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCC TAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACC TCCATAACCTCCGTAACCTCCCTAACCTTCATAACCTCCCTAACCTCCAT AACTTCTCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTT CCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCCTA ACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTC CATAACTTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAA CCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCC CTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCCTAACCTCCATAAC TTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
NKX1-1_chr4_1397932_1411442	1398328	G G	GGTAGATC others(1118): Show GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTG TTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCCGGGTGCTTTC AGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG AGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAG ATCAGGTTGGATACAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTCTCGGGCATCTGGATGTGGGTAGATCAGGTTGG ATGCCGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCAGGCATCTGGATGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG04204.hp2 HG00621.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	382	0.0052	1125	c.46 others(1136): Show c.4603_*4604insTCACATCCAGATGCCTGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAGAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCGGCATCCAACCTGATCTACCCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCGGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGTATCCAACCTGATCTACTCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CTGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAGCAC CCGGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCGGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTAC	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4603		chr4	TogoVar
NKX1-1_chr4_1397932_1411442	1398533	T T	TTTTCGGG others(1118): Show TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC GGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGG ATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG AGTAGATCAGGTTGGATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGG ATGCAGGGTGTTTTCAGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTG CTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTC AGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAG ATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAG GTTGGATGCAGGGTGTTTTCGGGCATCTGGATGTGAGTAGATCAGGTTGG ATGCAGGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCA GGGTGTTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCAGGGTG TTTTCGGGCATCTGGATGTGGGTAGATCAGGTTGGATGCCGGGTGCTTTC GGGCATCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCA TCTGGATGTGAGTAGATCAGGTTGGATGCAGGGTGTTTTCGGGCATCTGG ATGTGAGTAGATCAGGTTGGATGCTGGGTGCTTTCGGGCATCTGGATGTG GGTAGATCAGGTTGGATGCAGGGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	1125	c.43 others(1136): Show c.4398_*4399insGCACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAGCACCCAGCATCCAACCTGATCTACTCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAAAGCAC CCGGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGC ATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTG ATCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGC CCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCTGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAGCACCCTGC ATCCAACCTGATCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCA ACCTGATCTACCCACATCCAGATGCCTGAAAACACCCTGCATCCAACCTG ATCTACTCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTA CCCACATCCAGATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCAC ATCCAGATGCCTGAAAACACCCTGCATCCAACCTGATCTACTCACATCCA GATGCCCGAAAACACCCTGCATCCAACCTGATCTACCCACATCCAGATGC CTGAAAACACCCTGCATCCAACCTGATCTACTCACATCCAGATGCCCGAA AACACCCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAAACAC CCTGCATCCAACCTGATCTACCCACATCCAGATGCCCGAAA	NKX1-1	ENSG00000235608.2	transcript	ENST00000422806.2	protein_coding		4398		chr4	TogoVar
NPHP4_chr1_5857811_5997425	5977904	A A	AGAAGAGA others(1118): Show AGAAGAGAGGGGAGGGGGGGAGAAGGGAAGGGAGGGAAGGGGAGGGGGAA GGAGAAGGGAGGGGTGGGAAGGGGAGGGGAAGGGGAGGGGAGGGGAAGGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGGAGGGGGAGGGGGGAGGGGGGGGGAGGGGGGGGGGAGGGGGGA GGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGAGG GGGAGGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGGAGGGG GAGGGGAGGAGGGGAGGAAGGGGGAGGGGGAGGGAGGAGGGGAGGAAGGG GGAGGGGAGGAGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGAGGAG GTGGGAGGGGGAGGGGAGGATGGGGAGGGGAGAAGGGGAGGGGAGGAGGG GAGGGGAGGAGGGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGA GGGGGAGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAGGAGGGGAGGGGAG GAGGGGAGGGGAGGAGGGGAGGAGGGGGAGGGGAGGAGGAGGAGGGGAGG AGGGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGTAGGGGAGAGGGGGGG GAGGGGGAGGGGGAGGGGGGAGGAAGGGGGAGGGAGGAGGGGAGGAAGGG GGAGGGAGGAGGGGAAGAAGGGGGGAGGGGGGAGGGAGGGGGAGGGGGAG GGGAGGAGGGGGGGAGGGGAGGAGGGGTGAGAGGAGGAGAGAGGAGGGGA GGAGGGGGAGGGGAGGAGGGGGAGGGGAGGGGGAGGGGGGGAGGGGAGGG GGGAGGGGAGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAAAGGAAGGGAG GGAAGGGGAGGGGAGGAGTGGAGAGGAGGATGAGGGGAGGGGAGGGGAGG AGTGGAGAGGAGGGTAAGGGAAGGAAGCAGAGGAGGGAGGAGTGGAGAGG AGGGGAAGGGAGGGGAGGGGAGGGGTGCGGGAGGGGAGGGGTGCGGGAGG GGAGGGTAAGGGAAGGGAGGGGAGGGTGGGGGAGGGGAGGGAAGAGGAGT GGAGAGGAGGAGAAGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	208	0.0048	1125	c.279 others(1140): Show c.279+365_279+366insCCCTCCCCTCCCTTCTCCTCCTCTCCACTC CTCTTCCCTCCCCTCCCCCACCCTCCCCTCCCTTCCCTTACCCTCCCCTC CCGCACCCCTCCCCTCCCGCACCCCTCCCCTCCCCTCCCTTCCCCTCCTC TCCACTCCTCCCTCCTCTGCTTCCTTCCCTTACCCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCATCCTCCTCTCCACTCCTCCCCTCCCCTTCCCTCC CTTCCTTTCCTCCCCTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCCCT CCCCTCCCCCCCTCCCCCTCCCCTCCCCCTCCTCCCCTCCCCCTCCTCCC CTCCTCTCTCCTCCTCTCACCCCTCCTCCCCTCCCCCCCTCCTCCCCTCC CCCTCCCCCTCCCTCCCCCCTCCCCCCTTCTTCCCCTCCTCCCTCCCCCT TCCTCCCCTCCTCCCTCCCCCTTCCTCCCCCCTCCCCCTCCCCCTCCCCC CCCTCTCCCCTACTCCCCTCCTCCCCTCCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCTCCTCCCCTCCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCTCCCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTTCTCCCCTCCCCATCCTCCCCTCCCCCTCCCACCTCC TCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCTCCTCCCCTCCCCCT TCCTCCCCTCCTCCCTCCCCCTCCCCCTTCCTCCCCTCCTCCCCTCCCCC TCCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTC CCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCCCCCCTCCCCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCT TCCCCTCCCCTCCCCTTCCCCTCCCCTTCCCACCCCTCCCTTCTCCTTCC CCCTCCCCTTCCCTCCCTTCCCTTCTCCCCCCCTCCCCTCTCTTC	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	3/29			chr1	TogoVar

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