Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(822): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCGTATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATATATATATATT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAG ATGAAGTCTCGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18969.hp2 NA19005.hp1 HG02809.hp2 NA18969.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0022 a0001c0001t0011 a0001c0001t0018 a0001c0001t0022	a0001c0001t0011g0222 a0001c0001t0018g0223 a0001c0001t0022g0224 a0001c0001t0011g0222 a0001c0001t0018g0223 a0001c0001t0022g0224	3	40	0.0750	829	c.248 others(846): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCGTATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTTT TTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGT G	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(822): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTC CCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCC TCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCC TCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCCTC CTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCCT CCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCCCCT TACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCCCCTTCCTCCCTCCTC CTTTCCTTTCTCCCTCCTCCCTTCCTCCCTCCTCCCCTTCCCCCTCCTCC TTTCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCCTTCCCCCTCCTCCT TTCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCCTTCCCCCTCCTCCTT TCCTTTCTCCCTCCTCCCTTCCACCCTCCTCCCCTTCCCCCTCCTCCTTT CCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCCTTCCCCCTCCTCCTTTC CTTTCTCCCTCCTCCCTTCCACCCTCCTCCCCTTCCCCCCTTCCCCCTTA CTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTC TTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0022 a0001c0007t0022	a0001c0007t0022g0013 a0001c0007t0022g0013	1	8	0.1250	829	c.69 others(840): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCT CCGTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCC CCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCC CCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTC CCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTC CCCCTTCCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCT TCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCC TTCCCCCTTCCCCCTTACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCC CCTTCCTCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCTCCCTCCTCC CCTTCCCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCC CTTCCCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCC TTCCCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCACCCTCCTCCCCT TCCCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCGCCCTCCTCCCCTT CCCCCTCCTCCTTTCCTTTCTCCCTCCTCCCTTCCACCCTCCTCCCCTTC CCCCCTTCCCCCTTACTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCC TTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CLPTM1L_chr5_1312752_1350099	1333024	C C	CGGATAAG others(822): Show CGGATAAGGGGGGACTACTGTATACACACCAGATAAGGGGGGACTACTGT ATACACACCAGATGAGGATAAGGGGAGACTACTGTATACACACGGGATGA GGATGAGGGACTATTGTATACACACCACATGAGGATAAGGGGGGACTACT GTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACACGGG ATGAGGATAAGGGGGGACTACTGTATACACATTGGATGAGGATAAGGGGG GACTATTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACAC ACCAGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAA GGGGAGACTACTGTATACACACGGGATGAGGATGAGGGACTATTGTATAC ACACCAGATGAGGATAAGGGGGACTACTGTATACACACCGGCTGAGGATA AGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGT ATACACACCGGATGAGGATAAGGGGGGACTACTGTAGATACACGGGATGA GGATAAGGGGGGACTACTGTACACACACGGGATGAGGATAAGGGGGGACT ACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTATACACACCG GCTGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGG GGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACTGTAGATA CACGGGATGAGGATAAGGGGGGACTACTGTATACACACCGGATGAGGATA AGGGGGGACTACTGTATACACACCGGATGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03540.hp2 HG02280.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0293 a0001c0001t0006g0294 a0001c0001t0006g0293 a0001c0001t0006g0294	2	360	0.0056	829	c.892 others(846): Show c.892-1142_892-1141insTCATCCGGTGTGTATACAGTAGTCCCCC CTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCCG TGTATCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGT CCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCA GCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACA GTAGTCCCCCCTTATCCTCATCCCGTGTGTGTACAGTAGTCCCCCCTTAT CCTCATCCCGTGTATCTACAGTAGTCCCCCCTTATCCTCATCCGGTGTGT ATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCC CTTATCCTCAGCCGGTGTGTATACAGTAGTCCCCCTTATCCTCATCTGGT GTGTATACAATAGTCCCTCATCCTCATCCCGTGTGTATACAGTAGTCTCC CCTTATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTG GTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAATAG TCCCCCCTTATCCTCATCCAATGTGTATACAGTAGTCCCCCCTTATCCTC ATCCCGTGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGTGTAT ACAGTAGTCCCCCCTTATCCTCATGTGGTGTGTATACAATAGTCCCTCAT CCTCATCCCGTGTGTATACAGTAGTCTCCCCTTATCCTCATCTGGTGTGT ATACAGTAGTCCCCCCTTATCTGGTGTGTATACAGTAGTCCCCCCTTATC C	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(822): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCC TCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTC TTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCC CCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCC TCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCCTTC CTCCCCCTCCTCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCCTT CCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCC TCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTC CTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCT CCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCT TCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0055 a0002c0004t0055	a0002c0004t0055g0216 a0002c0004t0055g0216	1	2	0.5000	829	c.162 others(850): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCCCCTC TTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCC CCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCC TCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTC CTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTT CCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCC TCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCTCCCTTCCTCCCCCTCCC CCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCC CCTTCCTCCCCCTCCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTC TTCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTT CCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCC TCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCC TTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCT CCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(822): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0189 a0002c0003t0002g0189	1	42	0.0238	829	c.844 others(846): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(822): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCC GGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19012.hp2 HG02056.hp2 NA19012.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0180 a0002c0003t0002g0181	2	43	0.0465	829	c.844 others(846): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGG GGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(822): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCC GGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0161 a0002c0003t0002g0161	1	42	0.0238	829	c.844 others(846): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGG GGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(822): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGG ACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0185 a0002c0003t0002g0185	1	42	0.0238	829	c.844 others(846): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(822): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCC GGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19089.hp2 HG01496.hp1 NA19089.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0187 a0002c0003t0002g0191 a0002c0003t0002g0187 a0002c0003t0002g0191	2	43	0.0465	829	c.844 others(846): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGG GGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(822): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGG ACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCTGACC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02132.hp2 HG02074.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0305 a0001c0002t0001g0265 a0001c0002t0001g0305	2	43	0.0465	829	c.844 others(846): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCC CCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(822): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGG ACGGCACGGCTGGCCGGGCGGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	42	0.0238	829	c.844 others(846): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCC CCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGCA CGGCTGGCCGGGCGGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(822): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0307	1	42	0.0238	829	c.844 others(846): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(822): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0251 a0001c0002t0001g0251	1	42	0.0238	829	c.844 others(846): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(822): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01993.hp2 HG02055.hp1 HG01175.hp1 HG01993.hp2 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0262 a0001c0002t0001g0309 a0001c0002t0001g0310	3	44	0.0682	829	c.844 others(846): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(822): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0311 a0001c0002t0001g0311	1	42	0.0238	829	c.844 others(846): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(822): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02698.hp2 HG02630.hp1 HG02698.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0001c0002t0001 a0002c0005t0001	a0001c0002t0001g0245 a0002c0005t0001g0312 a0001c0002t0001g0245 a0002c0005t0001g0312	2	43	0.0465	829	c.844 others(846): Show c.844-1056_844-1055insCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGG GTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACC CCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485412	A A	ACCCCCCC others(822): Show ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCT GACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCTGAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02970.hp1 HG02451.hp2 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0146 a0001c0002t0001g0147	2	43	0.0465	829	c.844 others(846): Show c.844-1075_844-1074insCACCTCCCTCCCGGACGGGGCGGCTGGC TGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGATGGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCT GGCCGGGGGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGG CCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCC C	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485414	C C	CCCCCCCA others(822): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGTGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGA TGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGA CGGGGCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGC TGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGC TGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGCACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGCGGGGGGCTGACCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG02965.hp2 HG00639.hp1 HG01243.hp1 HG02965.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0004 a0002c0005t0003g0155 a0002c0005t0003g0004 a0002c0005t0003g0155	3	338	0.0089	829	c.844 others(846): Show c.844-1056_844-1055insCGGCTGGCCGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCAGGGGGGCTGACACCCCTCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGATGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCCCGACCTCCCTCCCGGACGGG GCGGCTGGCCGTGCAGAGGGGCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGGGGAGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGAC CCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG CACGGCTGGCCAGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGC ACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCACCCCCCACCTCCCTCCCGGACGGG G	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COMMD9_chr11_36267292_36294424	36287061	A A	ACTATGTA others(822): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACATGCTATGTACATCATATAGTATGT ATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTAC ATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATAC TACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCA TATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACA TGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATA GTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCT ATGTACATCATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 NA18998.hp1 others(1): Show HG01256.hp2 HG01258.hp1 NA18998.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0034 a0001c0001t0002g0079 a0001c0001t0002g0080	4	429	0.0093	829	c.51+ others(844): Show c.51+2300_51+2301insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTATACATACTATATGATGTACATA GCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACT ATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCAT GTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATAT GATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAG TATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATG TACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATA CATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACA TAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATA CTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(822): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACATGCTAT GTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGT ATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTAC ATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATAC TACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCA TATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACA TGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATA GTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCT ATGTACATCATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	353	0.0028	829	c.51+ others(844): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTAT ACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTAC ATAGCATGTATACATACTATATGATGTACATAGCATGTAGTATACATACT ATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCAT GTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATAT GATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAG TATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATG TACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATA CATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACA TAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATA CTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
COMMD9_chr11_36267292_36294424	36287093	A A	ACTATGTA others(822): Show ACTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAG TATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTA TGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATG TATACTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTA CATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATA CTACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATC ATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTAC ATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATAT AGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGC TATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATAGTA TGTATACTACATGCTATGTACATCATATAGTATGTATACATGCTATGTAC ATCATATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATAC TACATGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCA TATAGTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACA TGCTATGTACATCATATAGTATGTATACTACATGCTATGTACATCATATA GTATGTATACTACATGCTATGTACATCATATAGTATGTATACTACATGCT ATGTACATCATATAGTATGTATACTACATG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	353	0.0028	829	c.51+ others(844): Show c.51+2268_51+2269insCATGTAGTATACATACTATATGATGTACAT AGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATAC TATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCA TGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATA TGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTA GTATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGAT GTACATAGCATGTATACATACTATATGATGTACATAGCATGTAGTATACA TACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATA GCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACT ATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCAT GTAGTATACATACTATATGATGTACATAGCATGTAGTATACATACTATAT GATGTACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAG TATACATACTATATGATGTACATAGCATGTAGTATACATACTATATGATG TACATAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATA CATACTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACA TAGCATGTAGTATACATACTATATGATGTACATAGCATGTAGTATACATA CTATATGATGTACATAGCATGTAGTATACATACTATATGATGTACATAG	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CPNE4_chr3_131528569_132040014	131978270	T T	TTTATATA others(822): Show TTTATATAAATATATATATTTATATATATTTATATAAATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATT TATATATATATTTATATATATTTATATATATTTATATATATTTATATATA TTTATATATATATTTATATATATTTATATTTATATATATATTTTTATATA TTTATATATATTTTTATATATTTATATATTTATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATTTATA TATATATTTATATATATATTTTTATATATTTATATATATTTATATATTTA TATATATTTATATATATATTTATATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATATTTATATATATATTTATATATATT TATATATATATATTTATATATATTTATATATATATATTTATATATATTTA TATATATATATTTATATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATG TATATTTATATATTTATATATATTTATATATATATTTATATATTTATATA TATTTATATATATATTTATATATTTATATATATTTATATATATTTATATA TATTTATATATATTTATATATATTTATATATTTATATATATTTATATATA TTTATATATATATTTATATATTTATATATATTTATATATATATTTATATA TTTATATATATTTATATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	46	0.0217	829	c.-2+ others(846): Show c.-2+56296_-2+56297insTATATATAAATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATATAAATATATAAATATATATAAATATATATAAA TATATATAAATATATATAAATATATATAAATATATAAATATATATATAAA TATATATAAATATATAAATATATATATAAATATATATAAATATATAAATA TACATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATATATAAATATATATA TATAAATATATATAAATATATATATATAAATATATATAAATATATATATA TAAATATATATAAATATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATATAAATATA TATAAATATATAAATATATATAAATATATAAAAATATATATATAAATATA TATATAAATATATATAAATATATATATAAATATATATATAAATATATATA AATATATATATAAATATATATAAATATATAAATATATAAAAATATATATA AATATATAAAAATATATATATAAATATAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATAAATATATATATTTATATAAATATATATAAATATATATATTTATATA A	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131978270	T T	TTTATATA others(822): Show TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATTTATATATATTTATA TATATATTTATATATATTTATATTTATATATATATTTTTATATATTTATA TATATTTTTATATATTTATATATTTATATATATTTATATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATTTTTATATATTTATATATATTTATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATATTTATATATATTTATATA TATATATTTATATATATTTATATATATATATTTATATATATTTATATATA TATATTTATATATATTTATATATATATATTTATATATATTTATATATATA TATTTATATATATATATTTATATATATTTATATATATATTTATATATATT TATATATATTTATATATATATTTATATATATTTATATATATGTATATTTA TATATTTATATATATTTATATATATATTTATATATTTATATATATTTATA TATATATTTATATATTTATATATATTTATATATATTTATATATATTTATA TATATTTATATATATTTATATATTTATATATATTTATATATTTATATATA TTTATATATATATTTATATATTTATATATATTTATATATATATTTATATA TTTATATATATTTATATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	46	0.0217	829	c.-2+ others(846): Show c.-2+56296_-2+56297insTATATATAAATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATAAATATATAAATATATATAAATA TATATAAATATATATAAATATATATAAATATATATAAATATATAAATATA TATATAAATATATATAAATATATAAATATATATATAAATATATATAAATA TATAAATATACATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATATATAAA TATATATATATAAATATATATAAATATATATATATAAATATATATAAATA TATATATATAAATATATATAAATATATATATATAAATATATATAAATATA TATATATAAATATATATAAATATATATATAAATATATATATAAATATATA TATAAATATATATATAAATATATATAAATATATATATAAATATATATATA AATATATATAAATATATAAATATATATAAATATATAAAAATATATATATA AATATATATATAAATATATATAAATATATATATAAATATATATATAAATA TATATAAATATATATATAAATATATATAAATATATAAATATATAAAAATA TATATAAATATATAAAAATATATATATAAATATAAATATATATAAATATA TATATAAATATATATAAATATATATAAATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATAAATATATATATAAATATATATA A	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CUX2_chr12_111029165_111355554	111325930	T T	TTGGGGGA others(822): Show TTGGGGGAGGGGTGGGTTTTGTTTATAGTGTGTTGGGGGAGGGGTGGGTT TTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTG TGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAG TGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGGGGTGGGGGA GGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTT TATAGTGTTGTGATGGGGAGGGGTTGGTTTTGTTTATAGTGTTGGGGTGG GGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGT TTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGG GGAGGGGTGGGTTTTGTTTATAGTGTTGGGGTCGGGGAGGGGTGGGTTTT GTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTG GTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGG GTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTG TTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGAGGG GTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTTGGTTTTGTTTAT AGTGTTGGGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGTTGGGGTGGGG GAGGGGTGGGTTTTGTTTATAGTGTTGGGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	65	0.0154	829	c.292 others(848): Show c.2926+3380_2926+3381insGTTGGGGGAGGGGTGGGTTTTGTTTA TAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGG GGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTT GTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTG TTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTGG GTTTTGTTTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTG TTGTGATGGGGAGGGGTTGGTTTTGTTTATAGTGTTGGGGTGGGGGAGGG GTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGGTGGGTTTTGTTTATAGT GTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGGGGAGGGG TGGGTTTTGTTTATAGTGTTGGGGTCGGGGAGGGGTGGGTTTTGTTTATA GTGTTGTGTTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGTGGGGG AGGGGTGGGTTTTGTTTATAGTGTTGTGTTGGGGGAGGGGTGGGTTTTGT TTATAGTGTTGTGGTGGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGGT GGGGGAGGGGTGGGTTTTGTTTATAGTGTTGTGATGGGGAGGGGTGGGTT TTGTTTATAGTGTTGTGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGTTG GGGTGGGGGAGGGGTTGGTTTTGTTTATAGTGTTGGGGTGGGGGAGGGGT GGGTTTTGTTTATAGTGTTGGGGTGGGGGAGGGGTGGGTTTTGTTTATAG TGT	CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	556189	A A	AGCACCCA others(822): Show AGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCA CCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCCTCCCACAGCCGG ATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAG CACCCACCCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACC CCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCC GGATCCGAGGACGGCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCA CCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCC TCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCG GATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACG GCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCAC CCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGC CGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGA CGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCC ACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACA GCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAG GACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCAC CCACCCCTCCCACAGCCGGATCCCAGGACG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	65	0.0154	829	c.86- others(846): Show c.86-69660_86-69659insCGTCCTGGGATCCGGCTGTGGGAGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCG TCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCG GCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGG GTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGC CGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATC CGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAG GGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGT GCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGA TCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGG GAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTG GGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGCCGTCCTCGGAT CCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGA GGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGG TGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGG ATCCGGCTGTGGGAGGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGG GGTGGGTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTG C	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
EIF3B_chr7_2349827_2385745	2378317	C C	CCTGGGAA others(822): Show CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGT CATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGA ATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAT GCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCG AGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGG AAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCT GGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTT CTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCC TGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCA GGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCA TGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTGAAT GACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATC CGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGTGAG CTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAA GGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGG GTGTCGAGGAAGGAGAAGGCGCGAGCACTG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	234	0.0043	829	c.215 others(846): Show c.2155-366_2155-365insATCCGTGTTCTGTGAATGACCCTGGGTG TCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATGCTGTGTTCTGTG AATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGA ATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGC GAGCGCTCCTGGGATGCTGTGTTCTGTGAATGACCCTGGGTGTCATGGAG GAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCC TGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTCCTGGGAATCCGTGT TCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCTCTC CTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGC AGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTC ATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAATCCGTGTTCTGTGAA TGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGATG CTGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGAGCAGGCGCGA GCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGA AGGAGCAGGCGTGAGCTCTTCTGGGAATCCGTGTTCTGTGAATGACCCTG GGTGTCAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTG TGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCACTGCTGGG A	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EVC2_chr4_5557439_5713559	5666267	T T	TTTTTTAT others(822): Show TTTTTTATTTTTTTTTTTTTCTTTTCTTTTTTTTTTTTTTTATTATACTC TAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATA CGTGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAG GTATATCTCCCAATGCTATCCCTCCCCCCTTCCCCGACCCCACCACAGTC CCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAA TTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGA TAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGG ATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATG TGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTT CCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAAACATACGTGTGCATG TGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCAGTAAT GGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCG CCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGT GTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGTTTCCT GACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTCATAGT GGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTTCTTCA TGTGTTTTTTGGCTGCATAAATGTCTTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0204 a0001c0003t0001g0204	1	280	0.0036	829	c.871 others(844): Show c.871-619_871-618insGAGAAGACATTTATGCAGCCAAAAAACACA TGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACC ACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTC AGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTAC ACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGG CGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCC ATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACA CATGCACACGTATGTTTATTGCAGCACTATTCACAATAGCAAAGACTTGG AACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCA CATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATAT CCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTA TCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAA TTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTCGGGGAAGGGGGGAGGGATAGCATTGGGAGATATAC CTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACACG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA GAGTATAATAAAAAAAAAAAAAAAGAAAAGAAAAAAAAAAAAATAAAAA	EVC2	ENSG00000173040.13	transcript	ENST00000344408.10	protein_coding	7/21			chr4	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTATTT others(822): Show TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0029 a0012c0025t0029	a0012c0025t0029g0231 a0012c0025t0029g0231	1	207	0.0048	829	c.41- others(844): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(822): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGGAA CCAATACATACATGGAACATATATATGTGGAACCAATACATACACGGAAC ATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAA TACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATCTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATATGCAACATATATATGTGGAACCAATACATATATGCAACATATAT ATGTGGAACCAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	204	0.0049	829	c.-36 others(840): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGGAACCAATACATACATGGAACATATATATGTGGAACCA ATACATACACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATCTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACAT ATATGCAACATATATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(822): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGGAA CCAATACATACATGGAACATATATATGTGGAACCAATACATACATGGAAC ATATATATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAA TACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATCTGGAACCAATACATATACGGAACATATATATCTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0229 a0002c0002t0002g0229	1	204	0.0049	829	c.-36 others(840): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGGAACCAATACATACATGGAACATATATATGTGGAACCA ATACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACA TATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATCTGGAACCAATACATATACGGAACATATA TATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322831	T T	TATGGAAT others(822): Show TATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATA TATGGAATACATATATATGGAATATATATATGGAATACATATATATGGAA TACATATATATGGAATACACATATGGAATACATATATATGGAATACATAT ATGGAATACATATATATGGAATACATATATGGAATACATATATATGGAAT ACATATATGGAATACATATATATGGAATACATATATGGAATACATATATG TGGAATACATATATGGAATATATATATATGTGGAATATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATGGAATATATATACATGGAATATATATATGGAATAT ATATACATGGAATATATATATGGAATATATATACATGGAATATATATATG GAATATATATACATGGAATATATATATGGAATATATATACATGGAATATA TATATGGAATATATATACATGGAATATATATATGTGGAATATATACATGG AATATATATATGGAATATATACATATGGAATATATATATGGAATATATAC ATATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAAT ATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATATA TGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATA TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GGAATATATATATGGAATATATACGTATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0188 a0002c0002t0033g0188	1	218	0.0046	829	c.-22 others(840): Show c.-2225_-2224insATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATGGAATACATATATATGGAATATATATATGGAA TACATATATATGGAATACATATATATGGAATACACATATGGAATACATAT ATATGGAATACATATATGGAATACATATATATGGAATACATATATGGAAT ACATATATATGGAATACATATATGGAATACATATATATGGAATACATATA TGGAATACATATATGTGGAATACATATATGGAATATATATATATGTGGAA TATATATATATGGAATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATGGAATATATATACATGGAAT ATATATATGGAATATATATACATGGAATATATATATGGAATATATATACA TGGAATATATATATGGAATATATATACATGGAATATATATATGGAATATA TATACATGGAATATATATATGGAATATATATACATGGAATATATATATGT GGAATATATACATGGAATATATATATGGAATATATACATATGGAATATAT ATATGGAATATATACATATGGAATATATATATGGAATATATACGTATGGA ATATATATATGGAATATATACGTATGGAATATATATATGGAATATATACG TATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAATA TATACGTATGGAATATATATATGGAATATATACGTATGGAATATATATAT GGAATATATACGTATGGAATATATATATGGAATATATACGTATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2138		chr21	TogoVar
IFT140_chr16_1505427_1617072	1599452	G G	GCCGTCCG others(822): Show GCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGTG CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGG TCAGCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCACC CCGTCCGGGAGGGAGGTGGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGTGTCGGCCCCCCGCCCGGCCAGCCGCC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0003 a0009c0011t0003	a0009c0011t0003g0045 a0009c0011t0003g0045	1	145	0.0069	829	c.369 others(846): Show c.369+2917_369+2918insGGCGGCTGGCCGGGCGGGGGGCCGACAC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGG CGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCTCCCGGAC GGGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCT GACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGGCTG ACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG G	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IQCJ_chr3_159064319_159268747	159229707	C C	CCTCCTCC others(822): Show CCTCCTCCCCCCACCCACCCCTCCCCTCTCCTCCCCCCAACCACCCTGTC CTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCCCCCCTCCTCCCCCC ACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCCACCTCCTCCTCCTCC CCCCCTCTCCGTCCTCCTCCCACCTCCCCCTCCTCCTCCCCCTCCCCCAC CTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCTCCTCCTCTCCCCCC CTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTCCTGCTCTCCCCCTC CTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCTC CCCCCTCCTCCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCC CCTCCCCCCTCCTCCCCCTCCTCCCCCCCTCCCCCCCCCTCCCCCTCCTC CTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCC CTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCC TCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCCTCCTCCTCCCC CCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCCTCCCCCCTC CTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCG TCTTCCTCCCCCACCTCCCCCCTCCTCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	11	0.0909	829	c.10- others(846): Show c.10-16129_10-16128insCCCCACCCACCCCTCCCCTCTCCTCCCC CCAACCACCCTGTCCTCCTCCCCCACCCCCCTCCCCCCTCCTCCCCCTCC CCCCTCCTCCCCCCACCTCCATCCTCCTCCCCCTCCCCATCCTCCTCCCA CCTCCTCCTCCTCCCCCCCTCTCCGTCCTCCTCCCACCTCCCCCTCCTCC TCCCCCTCCCCCACCTCCTCCTCCTCCCCCCTCCTCGTCCTCCTCCCCCT CCTCCTCTCCCCCCCTCCTCTCCCCCCCCTCCTCCCCCCTCCTCCTCCTC CTGCTCTCCCCCTCCTCCTCCCCATTCTGCTCTCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCCTCCCCCCTCCTCCCC CTCCTCCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCTCCCCCCTCCT CCCCCTCCTCCCCCCCTCCCCCCTCCTCCCCCTCCTCCCCCCCTCCCCCC CCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCC CTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCT CCTCCCCCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCC TCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCC CCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCC CCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCC ACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTC C	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAKMIP3_chr10_132060946_132189858	132173149	T T	TCTCTCTC others(822): Show TCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCT TCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTC CCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCTCTCTCCCCCTCCCC CCTCTCTCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCCCCCTCTCT CCCCTCCCCCTCCCCTCTCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCC CCTCCCCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTCTC TCCCCCTTCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCC CCATCCCCCTCCCCCGTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCATCC CCATCCCCCTCCTTCCCTCTCCCCCTCCCCCATCCCCATCCCCCTCCTTC CCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTC TCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCC CCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCC TCCTTCCCTCTGTCTCTCTCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCC TTCCCCCTGTCTCTCTCTCCCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	144	0.0069	829	c.11 others(850): Show c.1103+4125_*1103+4126insCCCCTCCTTCCCTCTCTCTCTCCC CCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCT TCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTC TCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTC TCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCT TCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCT CTCTCTCCCCCTCCCCCCTCTCTCTCCCCTCCCCCCTCTCTCTCCCCCTC CCCCCTCCCCCTCTCTCCCCTCCCCCTCCCCTCTCTCCCCCTCCCCCCCT CCCCCTCCCCCTCCCCCCTCCCCCCCCCTCTCCCCCTCCCCTCCCCCCTC TCTCTCCCCCTCTCTCTCCCCCTTCCCTCCCCCCTCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCCATCCCCCTCCCCCGTCCCCCTCCCCCTCCCCC TCCCCCTCCCCCATCCCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCATC CCCATCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTC CCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCC TCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTC TCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTTCCCTCT CTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCTCT CTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(822): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGC CCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCC GCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGC CACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCACA GCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCC ACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCC CCCACAGCCGCCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGCC ACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCA CAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18947.hp1 HG02040.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0237 a0001c0001t0001g0019 a0001c0001t0001g0237	2	6	0.3333	829	c.-41 others(844): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGC CGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCA CAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCC CCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCG CCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGC CGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAG CCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCAC AGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCC CACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCC CCCCACAGCCGCCCCCCCACAGCCACCCCCCACAGCCACCCCCCCACAGC CACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCC ACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KIAA0930_chr22_45187244_45245894	45228891	A A	ACCCCCCA others(822): Show ACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCAC CACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCT GAGAGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTC TCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCA TCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCC GAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCT CCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACC ACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCA CCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCCC TCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCC AACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCAC CCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCT CTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAA CCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTC ACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATC CCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCCC CCCCACCACTCACCCGAAAGATCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0174 a0001c0001t0007g0174	1	358	0.0028	829	c.64+ others(846): Show c.64+11748_64+11749insGGAGAGGGATCTTTCGGGTGAGTGGTGG GGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGA GGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAG GTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG TTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGA GAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCG GGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTG GTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGT GGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTT TCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT GATGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTG GAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTC TCAGGTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAG TGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGG G	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
LRP1B_chr2_140226423_142136016	141017412	A A	ACATATTT others(822): Show ACATATTTTTTTTTCTTTTTTTTTTTTTTTTTTTTCCTTTCTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTCCCACCTATGAGTGAGATTATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG ACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAACACATGAAGAAATGCTCA TCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCA TCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGT GCTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGAC TGTAAACTAGTTCAACCATTGTGGAAGTCAGAGTGGCGATTCCTCAGGGA TCTAGAACTAGAAATACCATTTGACCCAGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0006 a0001c0017t0006	a0001c0017t0006g0015 a0001c0017t0006g0015	1	28	0.0357	829	c.197 others(848): Show c.1971-1498_1971-1497insGCTGGGTCAAATGGTATTTCTAGTTC TAGATCCCTGAGGAATCGCCACTCTGACTTCCACAATGGTTGAACTAGTT TACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTC CAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGT GAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTG ATGATGAGCATTTCTTCATGTGTTTGACCCAGCCATCCCATTACTGGGTA TATACCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGT ATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAA ATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCA TGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGG ACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACA AAAAACCAAACACCGCATAATCTCACTCATAGGTGGGAATTGAACAATGA GATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGG GGTCGGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAG ATGACACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATG TAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATA AAAAAAAAAAAAAGAAAGGAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAT ATG	LRP1B	ENSG00000168702.18	transcript	ENST00000389484.8	protein_coding	12/90			chr2	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(822): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGTGTGGACTGGACACAGCAGGCACGG CAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC AGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCT AGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGG CTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACAGCAGAAAGGCAGCGAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAG CAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	234	0.0043	829	c.-42 others(840): Show c.-4292_-4291insCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACT CCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCT GCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCTGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGT GCCTGCTGTGTCCAGTCCACACCCCACCTGCTGCTCCCTGCCCTGTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(822): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCGTC CCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCC CTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCC CCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCT CCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTC TCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTT CCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTC CCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCT CCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCT CCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTTC CCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCC CACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCATCTCCCCCT CCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTC CCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCC CTCTCCCCCTCCCCCTCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	6	0.1667	829	c.100 others(848): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCC CCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCAC TTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTC CCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCA TCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTC CCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTC TCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCA TCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCC ATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCT CTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCC CCTTCCCCTCCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCT CCCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTC TCCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCAC CCCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC CTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94348442	T T	TCTCCCTC others(822): Show TCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCTCCATCCAC CTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTCCCACTGCC TCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCGTCCCCTCTCC CTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCCCTTCCCCT TTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCCCTCCCTC TCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCTCCTCCTCA TCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTCTCCCTCTC TCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTTCCCCCTCC CCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTCCCCCTCTT CCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCTCCATCCCC ATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCTCCATCCTC CTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTTCCCTCTCCC TTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCCACTCTCCT CCCCCACTCCCCTCCCCATCTCCCCCTCCCCATCTCCCCCTCCTCCTCTT CCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCCCTCCCCCT CTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0075 a0001c0001t0006g0075	1	273	0.0037	829	c.100 others(848): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCC CCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCAC TTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTC CCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCA TCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTC CCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTC TCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCA TCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCC ATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCT CTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCC CCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTC CCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCT CCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACC CCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MSR1_chr8_16102881_16197651	16189622	A A	ATATTTTA others(822): Show ATATTTTATATATATATAAAATCTTATTTTATATATATTTTATATATATA TAAAATCTTATTTTATATATATTTTATATATATTTTATATATATATAAAA TCTTACTTTATATTTTATATATATGAAATCTTACTTTATATATATTTTAT ATATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAAT CTTATTTTATATATATTTTATATATATATAAAATCTTATTTTATATATAT TTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATAAA ATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATATAT ATTTTATATATATATAAAATAAGATTTTATATATATTTTATATATATATA AAATAAGATTTTATATATATTTTATATATATATAAAATAAGATTTTATAT ATATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAAGAT TTTATATATATTTTATATATATAAAATAAGATTTTATATATATATATAAA ATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATAA GATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATAT AAAATAAGATTTTATATATATAAAATATATATAAAATCTTATTTTATATA TATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTATT TTATATATATTTTATATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG03834.hp1 HG01256.hp1 HG01258.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0172 a0001c0001t0013g0173 a0001c0001t0013g0174 a0001c0001t0001g0172 a0001c0001t0013g0173 a0001c0001t0013g0174	3	323	0.0093	829	c.-5+ others(844): Show c.-5+2975_-5+2976insAGATTTTATATATATATAAAATATATATAA AATAAGATTTTATATATATATAAAATAAGATTTTATATATATATAAAATA TATATAAAATAAGATTTTATATATATTTTATATATATAAAATCTTATTTT ATATATATATAAAATCTTATTTTATATATATTTTATATATATATAAAATC TTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATCTTAT TTTATATATATATATAAAATCTTATTTTATATATATAAAATATATATAAA ATCTTATTTTATATATATATAAAATCTTATTTTATATATATATAAAATAT ATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTATTT TATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAAAT ATATATAAAATCTTATTTTATATATATATAAAATATATATAAAATCTTAT TTTATATATATATAAAATATATATAAAATCTTATTTTATATATATATAAA ATATATATAAAATAAGATTTTATATATATATAAAATATATATAAAATAAG ATTTTATATATATATAAAATATATATAAAATAAGATTTTATATATATAAA ATAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATAT ATAAAATATATATAAAGTAAGATTTCATATATATAAAATATAAAGTAAGA TTTTATATATATATAAAATATATATAAAATATATATAAAATAAGATTTTA TATATATATAAAATATATATAAAATAAGATTTTATATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
NAALADL2_chr3_174854334_175815548	175670512	A A	AATTTATA others(822): Show AATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAA TGTAAATTTAATATATTTATATTAAATTTACATTAAATGTAAATTTAATA TATTTATATTAAATTTACATTAAATGTAAATTTAATATATTTATATTAAA TTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATG TAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATA TTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATT TATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTA AATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATT TATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTA TATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAA TTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTA TATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATA TTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATT TAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATA TTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATT AAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTA ATATATTTATATTAAATGTAAAATTAATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0009 a0003c0005t0005g0009	1	4	0.2500	829	c.189 others(850): Show c.1896+43150_1896+43151insATATTTATATTAAATTTATATTAA ATGTAAATTTAATATATTTATATTAAATTTACATTAAATGTAAATTTAAT ATATTTATATTAAATTTACATTAAATGTAAATTTAATATATTTATATTAA ATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAAT GTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATAT ATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAAT TTATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGT AAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATAT TTATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTT ATATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAA ATTTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTT ATATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTAT ATTAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAAT TTAATATATTTATATTAAATTTATATTAAATGTAAATTTAATATATTTAT ATTAAATTTATATTAAATGTAAATTTAATATATTTATATTAAATTTATAT TAAATGTAAATTTAATATATTTATATTAAATTTATATTAAATGTAAATTT AATATATTTATATTAAATGTAAAATTAATATATTTATATTAAATGTAAAT TTAAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NEDD4L_chr18_58039226_58406539	58209261	T T	TCCTCCCC others(822): Show TCCTCCCCCTCCTCCTCCACCTCCTCCTCGTCCTCCACCTCCATCTCCTC TCCATCCTCCTCCTCCACCTCCACCTCCTCCTCCCTCTCCTCCTCCCTCT CCTCCTCCTCCCCCTCCTCCTCGTCCTCTACCTCCTCCTCCTCCACCACC TCCATCTGCTCCTCCTCCTCCCCCTCCACCTCCCCCTCCCCCTCCTCCTC CCTCTCCTCCTCCCCCTCCACCTCCACCTCTTCCTCCCCGCCTCCTCCCC CACCCCCTCCTTCTCAACCTCCGCCTCCCCTTCCTCCTCATCATCCTCCA CCTCCACCTCCCCCTGTTCCTCCTCCTCCTCCTCCACCTCCACCCCCTCC TCCTCATCCTCCACCCCCTCCTCCTCCTCCACCTCCACCTCCACCTCCTC ATCCTGCACCTCCACGTCCTCCTCCCCCTCCACCTCCTCCTCCACCTGCA CCTCCTCAACCTCCTCCTCCCCCTCCACCTCCCCCTCCTCCCCCTCCTCC TTAACCTCCGCCTCCACCTCCTCCTCCTCATCCTCCACTTCCACCTCCTC CTCCCCCTGGTCCTTCCCCTCCTCCTCCTCCACCTCCTCCTCCTCATCCT CCACCCCCTCCTCCTCATCCTCCACCCCCTCCTCCTCCACTTCTGCCTCC ACCTCCTCCTCCTCATCCTGCACTTCCGCCTCCTCCTCCCCCTCCCCCTC CTCCACCTCCACCTCCCCCTCCCCCTCCTCCACCTCCACCTCCTCCTCCT CATCCTCCACCTGCTCCTCCTCATCCTCCACCTCCACCTCCTCCTCCTCC ACCTCCTCCTTCTCCACCTCCACATCCTCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	56	0.0179	829	c.123 others(848): Show c.123-36166_123-36165insCCTCCCCCTCCTCCTCCACCTCCTCC TCGTCCTCCACCTCCATCTCCTCTCCATCCTCCTCCTCCACCTCCACCTC CTCCTCCCTCTCCTCCTCCCTCTCCTCCTCCTCCCCCTCCTCCTCGTCCT CTACCTCCTCCTCCTCCACCACCTCCATCTGCTCCTCCTCCTCCCCCTCC ACCTCCCCCTCCCCCTCCTCCTCCCTCTCCTCCTCCCCCTCCACCTCCAC CTCTTCCTCCCCGCCTCCTCCCCCACCCCCTCCTTCTCAACCTCCGCCTC CCCTTCCTCCTCATCATCCTCCACCTCCACCTCCCCCTGTTCCTCCTCCT CCTCCTCCACCTCCACCCCCTCCTCCTCATCCTCCACCCCCTCCTCCTCC TCCACCTCCACCTCCACCTCCTCATCCTGCACCTCCACGTCCTCCTCCCC CTCCACCTCCTCCTCCACCTGCACCTCCTCAACCTCCTCCTCCCCCTCCA CCTCCCCCTCCTCCCCCTCCTCCTTAACCTCCGCCTCCACCTCCTCCTCC TCATCCTCCACTTCCACCTCCTCCTCCCCCTGGTCCTTCCCCTCCTCCTC CTCCACCTCCTCCTCCTCATCCTCCACCCCCTCCTCCTCATCCTCCACCC CCTCCTCCTCCACTTCTGCCTCCACCTCCTCCTCCTCATCCTGCACTTCC GCCTCCTCCTCCCCCTCCCCCTCCTCCACCTCCACCTCCCCCTCCCCCTC CTCCACCTCCACCTCCTCCTCCTCATCCTCCACCTGCTCCTCCTCATCCT CCACCTCCACCTCCTCCTCCTCCACCTCCTCCTTCTCCACCTCCACATCC TCC	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30			chr18	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(822): Show CACACCACACACACCATACACACATACACACCACACACATACACACTCCA CACACACCACACATATATCACACACACCACATACACACTCCACACACACC ACACATACACACACCATACACCACACACACACCACACACTACACACCACA CCCACCCACGCATACCACACATATCCCCTTACATACCACACACATCCCCT ACACACACGCCACATACACACACCATACACATCCCCCACAGACACACATA CCCCTACATACCACACACATCCCCTACACACATGCCATACACACACCATA CACATCCCCCACAGACACACATACACACCACACACATACACAAACACTGC ACACATACACACCCCACACATACAACACACACGACACACCACACACATAC ACAAACACTGCACACATACACACCCCACACATACAACACACACGACACAC CACACAACCATACAGACACAAACACATACACCACACACACCACATACACA ACAAACATGCCACACACAAATACCACACACACCACATACACACACCCCCC ATTCACCACACACCACATACACACCATTCACACTACACATACACTCCACA CACACACCACATACACACCATACACACCACACATATCTCCACACACACAC CACATACATACACATCCCATCCACACACACCACACACCCACACACACACA CTCCAAACTCCACACACACTCCAAACACCACACAAATACACCTACACACA CATCACACACCCACACCACACACACACCACACAAACATGCCACACACATA CCCCACACCATACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00639.hp1 others(62): Show HG00099.hp2 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01975.hp1 HG02148.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 NA18612.hp1 NA18945.hp1 NA18952.hp2 NA18956.hp2 NA18962.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19004.hp1 NA19062.hp2 NA19082.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1	a0002 a0003 a0007 others(1): Show a0002 a0003 a0007 a0010	a0002c0003 a0002c0006 a0002c0015 others(5): Show a0002c0003 a0002c0006 a0002c0015 a0002c0017 a0002c0022 a0003c0010 a0007c0013 a0010c0018	a0002c0003t0001 a0002c0003t0004 a0002c0003t0009 others(8): Show a0002c0003t0001 a0002c0003t0004 a0002c0003t0009 a0002c0006t0001 a0002c0006t0008 a0002c0015t0001 a0002c0017t0001 a0002c0022t0001 a0003c0010t0001 a0007c0013t0001 a0010c0018t0001	a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0033 others(38): Show a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0033 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0042 a0002c0003t0001g0108 a0002c0003t0001g0115 a0002c0003t0001g0153 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0159 a0002c0003t0001g0160 a0002c0003t0001g0162 a0002c0003t0001g0164 a0002c0003t0001g0178 a0002c0003t0001g0179 a0002c0003t0001g0180 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0185 a0002c0003t0001g0187 a0002c0003t0001g0188 a0002c0003t0001g0189 a0002c0003t0001g0190 a0002c0003t0001g0193 a0002c0003t0004g0082 a0002c0003t0004g0181 a0002c0003t0009g0186 a0002c0006t0001g0184 a0002c0006t0008g0040 a0002c0015t0001g0109 a0002c0017t0001g0154 a0002c0022t0001g0139 a0003c0010t0001g0158 a0003c0010t0001g0163 a0007c0013t0001g0161 a0010c0018t0001g0169	65	185	0.3514	829	c.201 others(846): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGTGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTGTGTGTGGAGTTTGG AGTGTGTGTGTGTGGGTGTGTGGTGTGTGTGGATGGGATGTGTATGTATG TGGTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGTGTATGTGGTGTG TGTGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGA ATGGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTT GTTGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTG TGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGTGTTT GTGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGT GTGCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTCTGTGGGGGATG TGTATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTGTGGTATGTAGG GGTATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTATGTGGCGTGTGT GTAGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGTATGCGTGGGTG GGTGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGGTGTGTGTATGT GTGGTGTGTGTGGAGTGTGTATGTGGTGTGTGTGATATATGTGTGGTGTG TGTGGAGTGTGTATGTGTGTGGTGTGTATGTGTGTATGGTGTGTGTGGTG T	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(822): Show CACACCACACACACCATACACACATACACACCACACACATACACACTCCA CACACACCACACATATATCACACACACCACATACACACTCCACACACACC ACACATACACACACCATACACCACACACACACCACACACTACACACCACA CCCACCCACGCATACCACACATATCCCCTTACATACCACACACATCCCCT ACACACACGCCACATACACACACCATACACATCCCCCACAGACACACATA CCCCTACATACCACACACATCCCCTACACACATGCCATACACACACCATA CACATCCCCCACAGACACACATACACACCACACACATACACAAACACTGC ACACATACACACCCCACACATACAACACACACGACACACCACACACATAC ACAAACACTGCACACATACACACCCCACACATACAACACACACGACACAC CACACAACCATACAGACACAAACACATACACCACACACACCACATACACA ACAAACATGCCACACACAAATACCACACACACCACATACACACACCCCCC ATTCACCACACACCACATACACACCATTCACACTACACATACACTCCACA CACACACCACATACACACCATACACATCACACATATCTCCACACACACAC CACATACATACACATCCCATCCACACACACCACACACCCACACACACACA CTCCAAACTCCACACACACTCCAAACACCACACAAATACACCTACACACA CATCACACACCCACACCACACACACACCACACAAACATGCCACACACATA CCCCACACCATACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00741.hp1 others(65): Show HG00544.hp1 HG00609.hp2 HG00741.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp2 HG01257.hp1 HG01346.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02486.hp2 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp2 NA18945.hp2 NA18964.hp2 NA18970.hp1 NA18975.hp1 NA18989.hp1 NA19009.hp1 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19063.hp1 NA19076.hp1 NA19078.hp2 NA19082.hp1 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0002 a0001c0005 a0001c0012 others(1): Show a0001c0002 a0001c0005 a0001c0012 a0011c0026	a0001c0002t0001 a0001c0002t0003 a0001c0005t0003 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0005t0003 a0001c0012t0001 a0011c0026t0001	a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 others(36): Show a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0099 a0001c0002t0001g0105 a0001c0002t0001g0120 a0001c0002t0001g0173 a0001c0002t0001g0203 a0001c0002t0003g0064 a0001c0002t0003g0066 a0001c0005t0003g0191 a0001c0012t0001g0047 a0011c0026t0001g0069	68	188	0.3617	829	c.201 others(846): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGTGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTGTGTGTGGAGTTTGG AGTGTGTGTGTGTGGGTGTGTGGTGTGTGTGGATGGGATGTGTATGTATG TGGTGTGTGTGTGGAGATATGTGTGATGTGTATGGTGTGTATGTGGTGTG TGTGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGA ATGGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTT GTTGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTG TGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGTGTTT GTGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGT GTGCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTCTGTGGGGGATG TGTATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTGTGGTATGTAGG GGTATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTATGTGGCGTGTGT GTAGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGTATGCGTGGGTG GGTGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGGTGTGTGTATGT GTGGTGTGTGTGGAGTGTGTATGTGGTGTGTGTGATATATGTGTGGTGTG TGTGGAGTGTGTATGTGTGTGGTGTGTATGTGTGTATGGTGTGTGTGGTG T	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(822): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGG GAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAG AAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAA GGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGG GGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAGGGGGAGAGAA GGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGGGAGA GGTGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGGAGGGGGAG GAGGGGGAGAGGGGGAGGAGGGGGAGAGTGGGAGGAGGGGGGGAGGGGGA GAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGA GAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGG GCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGG GTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGA GAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGA GAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGA GGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGGGC GGGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGA GAGGGAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02970.hp1 others(5): Show HG02109.hp1 HG02258.hp2 HG02970.hp1 HG03540.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp1 NA19240.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0002 a0008c0007t0001 a0008c0007t0002	a0008c0007t0001g0123 a0008c0007t0001g0143 a0008c0007t0002g0300 others(5): Show a0008c0007t0001g0123 a0008c0007t0001g0143 a0008c0007t0002g0300 a0008c0007t0002g0301 a0008c0007t0002g0303 a0008c0007t0002g0304 a0008c0007t0002g0305 a0008c0007t0002g0306	8	31	0.2581	829	c.371 others(846): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTCCC TCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGC CCGCCCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGC CCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTC TCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCC TCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCC ACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTC GCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTC TCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCC TCTCCCCCTCCCCCCCTCCTCCCACTCTCCCCCTCCTCCCCCTCTCCCCC TCCTCCCCCTCCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCA CCTCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCC CCTTCTCTCCCCCTCTCCCCCTCTCCCTTTCTCTCCCCCTCTCTCCCCCT CCCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCC CCTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCC TTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTC TCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCC C	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(822): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGG GAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAG AAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAG GGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGAGAGAAGGGGAG AGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAG GGGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGAGGGGGAGAG GTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAG GAGGGGGGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAG GAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAAGGGGCAAGA GAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAGAGAGAGAGG GCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAGAAAGAGAGG GTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGGCGAGAGAGA GAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGGTGAGAGAGA GAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGA GGGCGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGTGAGAGGGC GAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAGGGAGAGAAAGAGGGA GAGAAAGAGGGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0032 a0032	a0032c0054 a0032c0054	a0032c0054t0001 a0032c0054t0001	a0032c0054t0001g0067 a0032c0054t0001g0067	1	24	0.0417	829	c.371 others(846): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCCTCTCTCTCCCTC TCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCGC CCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTTGCCCACCCTC TCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTCTCTCTCGCCCGCCC TCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCCTCTCTCTCTTGCCC ACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCCTCTCTCTCTCACTC GCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCCTCTCTCTCGCCCTC TCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCC TCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCC TCCTCCCCCTCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCC ACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCC CCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTT CTCTCCCCTTCTCTCCCCCTCTCCCTTTCTCTCCCCCTCTCTCCCCCTCC CCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCC TTCTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTC TCCCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCC C	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
RBPMS_chr8_30379541_30577256	30388407	T T	TTATAGCT others(822): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAACTTATAGCTATAGCTATAAGCTAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp2 HG01358.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0146 a0001c0001t0012g0147 a0001c0001t0012g0146 a0001c0001t0012g0147	2	296	0.0068	829	c.66+ others(844): Show c.66+3432_66+3433insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388407	T T	TTATAGCT others(822): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	295	0.0034	829	c.66+ others(844): Show c.66+3401_66+3402insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30388438	T T	TTATAGCT others(822): Show TTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAG CTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGC TATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTT ATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCT AACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTA TAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTAT AACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTAT AAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18944.hp2 NA18968.hp2 HG03831.hp2 NA18944.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150	3	255	0.0118	829	c.66+ others(844): Show c.66+3432_66+3433insGCTATAGCTATAAGCTAACTTATAACTTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAA CTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAA GCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAG CTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACT TATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGC TATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACT TATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGC TAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCT ATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTA TAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTA TAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTAT AGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAA CTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATA GCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar

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