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
TCF3_chr19_1604292_1657615	1628439	A A	AAAGGGGA others(434): Show AAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCA GGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGGGACAG CAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGT GAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGGGGCAGGAAGGGGACA GCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG TGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGGGGCAGG	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0089 a0001c0003t0089	a0001c0003t0089g0301 a0001c0003t0089g0301	1	352	0.0028	441	c.299 others(458): Show c.299-1014_299-1013insCCTGCCCCACCCCGTGAGTTCTGCTGTC CCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCC CCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCGTGAGTTCTGCTGT CCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTC TGCTGTCCCCTTCCTGCCCCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCT CTGCTGTCCCCTT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628615	G G	GGGGACAG others(434): Show GGGGACAGCAGAACTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCA CGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAA GGGGACAGCAGAGCTCACAGGGGATGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGTG GGAAGCGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAG AGCTCATGGGGTGGGGCGGAAAGGGGACAGCAGAGCTCACAGGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACAGGGGTGAGGCGGGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0095 a0001c0003t0002g0095	1	352	0.0028	441	c.299 others(458): Show c.299-1190_299-1189insTTTCCCGCCTCACCCCTGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTTCCGCC CCACCCCATGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTC TGCTGTCCGCTTCCCACCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCA CCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCC GCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCCCATCCCCTGTGA GCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTC CCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGA GTTCTGCTGTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGAGCG others(434): Show GAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0319 a0001c0005t0003g0319	1	444	0.0023	441	c.227 others(460): Show c.2277+1654_2277+1655insGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTG CCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCC ACTCCCTTCGCTCCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGGGCG others(434): Show GAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0067 a0005c0004t0067	a0005c0004t0067g0210 a0005c0004t0067g0210	1	444	0.0023	441	c.227 others(460): Show c.2277+1654_2277+1655insGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCC ACTCCCTTCGCCCCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(434): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0324 a0001c0001t0004g0324	1	444	0.0023	441	c.227 others(460): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(434): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0358 a0003c0003t0001g0358	1	444	0.0023	441	c.227 others(460): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMPRSS2_chr21_41459305_41513158	41474314	A A	AGTGAGGA others(434): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGGTGAGTGAGGGGGTGAGGGGGT GAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAG GTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGT GGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGG GTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGT GAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGA GTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGT GAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0243 a0002c0003t0006g0243	1	382	0.0026	441	c.728 others(456): Show c.728-819_728-818insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTC ACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCCTCACCCCCTCA CTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCT CACCTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TNFRSF10D_chr8_23130588_23169027	23139071	T T	TAAAACCC others(434): Show TAAAACCCCTAAGATGAAACTACAATATTGAAATAGAAATGTATGTCTGG AGGAATGTTAAAAACATAGCAAATGCAATAAATTAGCAAACAGAATTACA AGGTTATCCAACTCATAATGGATACAAAATAGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGT CAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCT TGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02145.hp2 HG02486.hp2 others(1): Show HG00738.hp1 HG02145.hp2 HG02486.hp2 HG03130.hp2	a0006 a0008 a0006 a0008	a0006c0006 a0008c0008 a0006c0006 a0008c0008	a0006c0006t0008 a0008c0008t0008 a0008c0008t0034 a0006c0006t0008 a0008c0008t0008 a0008c0008t0034	a0006c0006t0008g0058 a0006c0006t0008g0205 a0008c0008t0008g0085 others(1): Show a0006c0006t0008g0058 a0006c0006t0008g0205 a0008c0008t0008g0085 a0008c0008t0034g0048	4	444	0.0090	441	c.955 others(456): Show c.955-812_955-811insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCTATTTTGTATCCATTATGA GTTGGATAACCTTGTAATTCTGTTTGCTAATTTATTGCATTTGCTATGTT TTTAACATTCCTCCAGACATACATTTCTATTTCAATATTGTAGTTTCATC TTAGGGGTTTT	TNFRSF10D	ENSG00000173530.6	transcript	ENST00000312584.4	protein_coding	7/8			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140272321	G G	GTGGTGAT others(434): Show GTGGTGATGGTGGTTTTGGTGGTCACAGTGGAGAGAGTGGTGGTAGTGAG GGTGGTGGTGATGATGGTGATGGTGGCGATGGTGATAATGGTGATGGTGA TGGTGGTGATGGTAGTGATGGTGGTGCTGGTGATGGCAGTGGTAGTGATG GTGATGGTGGTTTTGGTGGTCACAGTGGAGAGAGTGGTGGTAGTGAGGGT GGTGGTGATGATGGTGATGGTGGCGATGGTGATAATGGTGATGGTGATGG TGGTGATGGTAGTGATGGTGGTGCTGGTGATGGCAGTGGTAGTGATGGTG ATGGTGGTTTTGGTGGTCACAGTGGAGAGAGTGGTGGTAGTGAGGGTGGT GGTGATGATGGTGATGGTGGCGATGGTGATAATGGTGATGGTGATGGTGG TGATGGTAGTGATGGTGGTGCTGGTGATGGCAGTGGTAGTGA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	98	0.0102	441	c.227 others(460): Show c.2278+3336_2278+3337insTCACTACCACTGCCATCACCAGCACC ACCATCACTACCATCACCACCATCACCATCACCATTATCACCATCGCCAC CATCACCATCATCACCACCACCCTCACTACCACCACTCTCTCCACTGTGA CCACCAAAACCACCATCACCATCACTACCACTGCCATCACCAGCACCACC ATCACTACCATCACCACCATCACCATCACCATTATCACCATCGCCACCAT CACCATCATCACCACCACCCTCACTACCACCACTCTCTCCACTGTGACCA CCAAAACCACCATCACCATCACTACCACTGCCATCACCAGCACCACCATC ACTACCATCACCACCATCACCATCACCATTATCACCATCGCCACCATCAC CATCATCACCACCACCCTCACTACCACCACTCTCTCCACTGTGACCACCA AAACCACCATCACCA	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	15/22			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870350	A A	ACCCCACA others(434): Show ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCATACACACCACACACCACACCCCACACACACCACACCCCACACAC ACCACACCCCACACACACCACACACCCCCCACACACCACACCCCACACAC ACCACACACCCCCCACACACCACACACCATACACACCACACCCCACACAC ACCACACCCCCCACACACCACACCCCACACACCACACCCCACACACACCA CACACCACACACACCACACCCCATACACACCACACCCCATACACACCACA CCCCACACACACCACACCCCACACACCACACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCCCACACAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	338	0.0030	441	c.35 others(460): Show c.35+21618_*35+21619insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACCCCATACACACCACACACCACACCCC ACACACACCACACCCCACACACACCACACCCCACACACACCACACACCCC CCACACACCACACCCCACACACACCACACACCCCCCACACACCACACACC ATACACACCACACCCCACACACACCACACCCCCCACACACCACACCCCAC ACACCACACCCCACACACACCACACACCACACACACCACACCCCATACAC ACCACACCCCATACACACCACACCCCACACACACCACACCCCACACACCA CACACCCCACACACACCACACCCCACACACACCACACCCCACACACACCA CACCCCCCACACACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC13A_chr19_17596336_17693354	17631222	T T	TCCTTCCT others(434): Show TCCTTCCTTCCTTCTTCAGATAAACTGCCCATGGCAAGTGGGTTTATTCT CTGAGCTCTTGTTTTCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTTCCTT CCTCCCTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCTTCAGATAAACTGCCCATGGCAAGTGGGTTTATTCTCTGAGCT CTTGTTTTCTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCT CCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCCCTCCTTC CCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCC TCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTC CTTCCCTCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0303 a0001c0001t0034g0303	1	320	0.0031	441	c.342 others(458): Show c.3429-473_3429-472insGGAGGGAGGGAGGGAAGGAAGGGAGGGA GGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGG GAAGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGA GGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAAGGGAGGGAG GGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGG AGGGAGAAAACAAGAGCTCAGAGAATAAACCCACTTGCCATGGGCAGTTT ATCTGAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGGA GGGAAGGAGGGAGGAAGGAAGGAAAGGAGGGAGGGAGGGAGGGAGGGAGA AAACAAGAGCTCAGAGAATAAACCCACTTGCCATGGGCAGTTTATCTGAA GAAGGAAGGAAGG	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(434): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATATATTATATATATTTATGTAATATATAATATATATTTATATATTA TATTTATGTAATATATAATATTTATATATTATATTTATGTAATATATAAT ATTTATATATTATATTTATGTAATATATAATATTTATATATTATATTTAT GTAATATATAATATTTATATATTATATTTATGTAATATATAATATTTATA TATTATATTTATGTAATATATAATATTTATATATATTTATGTAATATATA ATATTTATATATATTTATGTAATATATAATATTTATATATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0108 a0002c0008t0002g0108	1	204	0.0049	441	c.213 others(460): Show c.2136+5973_2136+5974insAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATATATAAATATTATATATTACAT AAATATATATAAATATTATATATTACATAAATATATATAAATATTATATA TTACATAAATATAATATATAAATATTATATATTACATAAATATAATATAT AAATATTATATATTACATAAATATAATATATAAATATTATATATTACATA AATATAATATATAAATATTATATATTACATAAATATAATATATAAATATT ATATATTACATAAATATAATATATAAATATATATTATATATTACATAAAT ATATATAATATATATTATATATTACATAAATATAATATATAATATATATT ATATATTACATAAATATAATATATAATATATATTATATATTACATAAATA TAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(434): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATA TTTATGTAATATATAATATTTATATATATTTATGTAATATATAATATTTA TATATTATATTTATGTAATATATATTTATATATTATATTTATGTAATATA TAATATTTATATATTATATTTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0197 a0002c0001t0002g0197	1	204	0.0049	441	c.213 others(460): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATAATATATAAATATATATT ACATAAATATAATATATAAATATTATATATTACATAAATATATATAAATA TTATATATTACATAAATATATATAAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATAATATATAAATATTATATATTA CATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAA TATTATATATTACATAAATATAATATATAAATATTATATATTACATAAAT ATAATATATAAATATTATATATTACATAAATATAATATATAATATATATT ATATATTACATAAATATAATATATAATATATATTATATATTACATAAATA TAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(434): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTATATATTA TATTTATGTAATATATAATATATATTATATATTATATTTATGTAATATAT AATATTTATATATTATATTTATGTAATATATAATATTTATATATTATATT TATGTAATATATAATATTTATATATTATATTTATGTAATATATAATATTT ATATATTATATTTATGTAATATATAATATTTATATATTATATTTATGTAA TATATAATATTTATATATTATATTTATGTAATATATAATATTTATATATT ATATTTATGTAATATATAATATTTATATATATTTATGTAATATATAATAT TTATATATATTTATGTAATATATAATATTTATATATATTTATGTAATATA TAATATTTATATATTATATTTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18990.hp1 HG02602.hp1 NA18990.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0033 a0002c0002 a0007c0033	a0002c0002t0002 a0007c0033t0002 a0002c0002t0002 a0007c0033t0002	a0002c0002t0002g0137 a0007c0033t0002g0048 a0002c0002t0002g0137 a0007c0033t0002g0048	2	204	0.0098	441	c.213 others(460): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATTATATATTACATAAATATATATAAATATTATATATT ACATAAATATATATAAATATTATATATTACATAAATATATATAAATATTA TATATTACATAAATATAATATATAAATATTATATATTACATAAATATAAT ATATAAATATTATATATTACATAAATATAATATATAAATATTATATATTA CATAAATATAATATATAAATATTATATATTACATAAATATAATATATAAA TATTATATATTACATAAATATAATATATAAATATTATATATTACATAAAT ATAATATATAAATATTATATATTACATAAATATAATATATAATATATATT ATATATTACATAAATATAATATATAATATATATTATATATTACATAAATA TAATATATAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95196786	A A	ATATATAT others(434): Show ATATATATTATATTTATGTAATATATAATATATATATTATATTTATGTAA TATATAATATATATATTATATTTATGTAATATATAATATATATTTATATA TTATATTTATGTAATATATAATATATATTTATATTATATTTATGTAATAT ATAATATATATTTATATATTATATTTATGTAATATATAATATATATTTAT ATATTATATTTATGTAATATATAATATATATTTATATATTATATTTATGT AATATATAATATATATTTATATATTATATTTATGTAATATATAATATATA TTTATATATTATATTTATGTAATATATAATATATATTTATATATTATATT TATGTAATATATAATATATATTTATATATTATATTTATGTAATATATAAT ATATATTTATATATTATATTTATGTAATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02559.hp2 HG03453.hp1 HG01109.hp2 HG02559.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0018 a0001c0003 a0001c0018	a0001c0003t0001 a0001c0018t0001 a0001c0003t0001 a0001c0018t0001	a0001c0003t0001g0031 a0001c0018t0001g0051 a0001c0018t0001g0144 a0001c0003t0001g0031 a0001c0018t0001g0051 a0001c0018t0001g0144	3	204	0.0147	441	c.213 others(460): Show c.2136+5944_2136+5945insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTATATATTACAT AAATATAATATATAAATATATATTATATATTACATAAATATAATATATAA ATATATATTATATATTACATAAATATAATATATAAATATATATTATATAT TACATAAATATAATATATAAATATATATTATATATTACATAAATATAATA TATAAATATATATTATATATTACATAAATATAATATAAATATATATTATA TATTACATAAATATAATATATAAATATATATTATATATTACATAAATATA ATATATATATTATATATTACATAAATATAATATATATATTATATATTACA TAAATATAATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
USP37_chr2_218445251_218573351	218557668	G G	GCTGTAAT others(434): Show GCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACAAGGTCA AGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAA AATACAAAAAATTAGCTGGGCATGGTGGCAGGCGCCTGTAGTCCCAGCTA CTCGAGAGGCTGAGGCAGGAGGATGGTATGAACCCAGGAGGCAGGGTTTG CAGTAAGCCGAGATCACACCACCGCACTCCAGCCTGGGCAACAGAGCGAG ACTCCGTCTCAAAAAACAAAACAAAAAGCAAAAAAACCCCATATATATAT ATATATATATATATATGATCTTAAAGTGCAGAAAAACATAAAACATTATG TTCTTAACTTCAACTCATATCAAGATGAGTAACTTGGTTGCATAAGAGAA GCAATAAAGAAGTGAAAACAGGCTGGGCGCAGTGGCTCACAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0185 a0001c0001t0006g0185	1	282	0.0036	441	c.156 others(456): Show c.156+829_156+830insGTGTGAGCCACTGCGCCCAGCCTGTTTTCA CTTCTTTATTGCTTCTCTTATGCAACCAAGTTACTCATCTTGATATGAGT TGAAGTTAAGAACATAATGTTTTATGTTTTTCTGCACTTTAAGATCATAT ATATATATATATATATATATATGGGGTTTTTTTGCTTTTTGTTTTGTTTT TTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCGGTGGTGTGAT CTCGGCTTACTGCAAACCCTGCCTCCTGGGTTCATACCATCCTCCTGCCT CAGCCTCTCGAGTAGCTGGGACTACAGGCGCCTGCCACCATGCCCAGCTA ATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCTTGACCTTGTGATCCACCTGCCTCAGCCTCCCAAAGTGC TGGGATTACAG	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	4/25			chr2	TogoVar
VCX3B_chrX_8459830_8471510	8466813	G G	GGGGAGGG others(434): Show GGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGA GGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGCGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGG GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGA GGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	271	0.0037	441	c.43 others(450): Show c.430_*431insGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG AGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGA GGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGT GGGGA	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		304		chrX	TogoVar
VPS53_chr17_503668_719839	548442	C C	CGACTACA others(434): Show CGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAAC GACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAATG ACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACGA CTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAATGAC TACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACGACT ACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACGACTA CACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACGACTAC ACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAACGACTACA CTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp2 HG01175.hp1 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0034 a0001c0006t0041 a0001c0001t0034 a0001c0006t0041	a0001c0001t0034g0126 a0001c0006t0041g0001 a0001c0001t0034g0126 a0001c0006t0041g0001	2	232	0.0086	441	c.186 others(460): Show c.1866+3429_1866+3430insATTGGATGATTCCAGAAGGACTGTTG GCTGGCCAAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGG CTGGCCAAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGC TGGCCAAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCT GGCCAAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTG GCCAAAGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGG CCAAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGC CAAAGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCA AAGTGGAGTGTAGTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548621	C C	CTTCTGGA others(434): Show CTTCTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCC TTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCT TCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTT CTGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTC TGGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCT GGAATCATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTG GAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGG AATCATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGA ATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18946.hp1 NA18955.hp1 others(1): Show HG00621.hp1 NA18946.hp1 NA18955.hp1 NA19066.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0009 a0002c0003 a0005c0009	a0002c0003t0018 a0005c0009t0130 a0005c0009t0137 others(1): Show a0002c0003t0018 a0005c0009t0130 a0005c0009t0137 a0005c0009t0147	a0002c0003t0018g0214 a0005c0009t0130g0178 a0005c0009t0137g0189 others(1): Show a0002c0003t0018g0214 a0005c0009t0130g0178 a0005c0009t0137g0189 a0005c0009t0147g0177	4	232	0.0172	441	c.186 others(460): Show c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT GTAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTG TAGTCGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGT AGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTA GTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAG TCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGT CATTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTC GTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTCG TTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAAGTGGAGTGTAGTCAT TGGATGATTCCAGAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(434): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTC TCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCC CCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCT CCCCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTC TCCCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCCCTC TCCCCCTCACCCTCCCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCC CTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0021 a0015c0018t0021	a0015c0018t0021g0043 a0015c0018t0021g0043	1	246	0.0041	441	c.53- others(454): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCT CCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTC CTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCC CCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTC CCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTC CCCCTCTCCCCCTCACCCTCCCCCCCTCCCCCTCTCCCCCTCCCCCTCCC CTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCC TCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(434): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTC TCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCC CCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCT CCCCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCCCTC TCCCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCCCTC TCCCCCTCACCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCCCC CTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0019 a0019	a0019c0015 a0019c0015	a0019c0015t0028 a0019c0015t0028	a0019c0015t0028g0042 a0019c0015t0028g0042	1	246	0.0041	441	c.53- others(454): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCT CCCCTCTCCTCCTCTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTC CTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCC CCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTC CCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTC CCCCTCTCCCCCTCACCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCC CTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCC TCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR87_chr19_37879823_37911594	37881029	T T	TATATATA others(434): Show TATATATATTATATATATATATAATATATATATATTATATATATATATAT AATATATATATATTATATATATAATATATATATATTATATATATATATAA TATATATATATTATATATAATATATATATATTATATATATATTATATATA TTATATATATTATATATATATTATATATATATTATATATATATAATATAT ATAATATATATATAATATATATTATATATATAATATATATATATTATATA TATAATATATATATTATATATATAATATATATATTTAATATATATTATAT ATATAATATATATATTATATATATAATATATATATAATATATATATTATA TATATAATATATATATTATATATATATAATATATATATTTAATATATATA TTATATATATAATATATATTATATATATAATATATATATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	1	330	0.0030	441	c.39 others(452): Show c.3902_*3903insTAAATATATATATTATATATATAATATATATTAT ATATATAATATATATATTAAATATATATATTATATATATATAATATATAT ATTATATATATAATATATATATTATATATATATTATATATATAATATATA TATTATATATATAATATATATTAAATATATATATTATATATATAATATAT ATATTATATATATAATATATATATATTATATATATAATATATATTATATA TATATTATATATATTATATATATATAATATATATATAATATATATATAAT ATATATAATATATATAATATATATATAATATATATATATTATATATAATA TATATATATTATATATATATATAATATATATATATTATATATATAATATA TATATATTATATATATATATATAATATATATATATTATATATATATATAA TATATAT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3793		chr19	TogoVar
YBEY_chr21_46281342_46302751	46292527	T T	TGTGCCCG others(434): Show TGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCAT GCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGC CCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCC TCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAGTCAGCCACACAA GTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0374 a0001c0001t0001g0374	1	404	0.0025	441	c.339 others(458): Show c.339+1077_339+1078insCAGTGGAGTCAGCCACGCAAGTTAAACT CTAGATTAAATTCCTCCCGCGGTCAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGC CTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCTGGAGTCA GCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACC CGTGCCCGGGACT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46292693	G G	GAGTCAGC others(434): Show GAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCATGCCCGGGACTGAGTGGGGACAGCCACGCAAGTTAAACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGA GTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTGCGGTTAGCCTGA CCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATT AAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	404	0.0025	441	c.339 others(458): Show c.339+1231_339+1232insAGTCAGCCACGCAAGTTAGACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTGAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAG CCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC GTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCTGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCC ACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATG CCCGGGACTCAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46292883	C C	CGGTTAGC others(434): Show CGGTTAGCCTGACCCATGCCCGGGACTCAGTGGGGACAGCCACGCAAGTT AAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACT CAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAAACTC TAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTG GAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19079.hp2 NA19057.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0298 a0001c0001t0002g0299	2	404	0.0050	441	c.339 others(458): Show c.339+1435_339+1436insATGCCCGGGACTCAGTGGGGACAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCC CGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTCCT CCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACA AGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCG GGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCC TTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCTTG GTTAGCCTGACCC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293285	G G	GAGTCAGC others(434): Show GAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACTCTA GATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAG TCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTG ACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0380 a0001c0001t0001g0380	1	404	0.0025	441	c.339 others(458): Show c.339+1823_339+1824insAGTCAGCCACGCAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGAAGTGAGTGGAGTC AGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACC CATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAA ATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGC CACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCG TGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAAT TCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCA CGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGT	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
YBEY_chr21_46281342_46302751	46293934	G G	GTGCCCGG others(434): Show GTGCCCGGAAGTGAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCA CACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTG CCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGACTCTAGATTAAATTC CTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACG CAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCC CGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCT CCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAA GTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0369	1	404	0.0025	441	c.340 others(458): Show c.340-2221_340-2220insAAGTGAGTGGAGTCAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTC AGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGT TAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAGAC TCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAG TGGGGACAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTA GCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACGCAAGTTAAACTC TAGATTAAATTCCTCCTTGGTTAGCCTGACCCATGCCCGGGACTCAGTGG AGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCTTGGTTAGCCT GACCCATGCCCGG	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(435): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATCAA TATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATT TATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATATAAA TATTTTTATATTTATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG02080.hp2 others(11): Show HG00438.hp1 HG00621.hp1 HG02080.hp2 HG02083.hp1 NA18945.hp1 NA18961.hp2 NA18977.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19070.hp2 NA19078.hp2 NA19083.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0036 a0001c0001 a0001c0002 a0001c0036	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0036t0003	a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0154 others(11): Show a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0234 a0001c0001t0001g0260 a0001c0002t0002g0175 a0001c0002t0002g0179 a0001c0002t0002g0261 a0001c0002t0002g0265 a0001c0002t0002g0274 a0001c0002t0003g0119 a0001c0002t0005g0126 a0001c0036t0003g0244	14	306	0.0458	442	c.130 others(461): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTT ATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAA ATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAA AAATATTTATATATTTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(435): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATT TATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTATA TTTATAGATAAATATATCAATATTTTTATATTTATAGATAAATATATCAA TATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATT TATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATATAAA TATTTTTATATTTATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	306	0.0033	442	c.130 others(461): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTG ATATATTTATCTATAAATATAAAAATATTTATATATTTATAAATATAAAA ATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAA AAATATTTATATATTTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975476	T T	TATAAATA others(435): Show TATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTA TAGATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTTTA TATTTATAAATATATAAATATTTTTATATTTATAAATATATAAATATTTT TATATTTATAAATATATAAATATTTTTATATTTATAGATAAATATATCAA TATTTTTATATTTATAGATAAATATATCAATATATAAATATTTTTATATT TATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAATA TATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTT TATATTTATAGATAAATATATAAATATTTTTATATTTATAAATATATAAA TATTTTTATATTTATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0050 a0003c0050	a0003c0050t0009 a0003c0050t0009	a0003c0050t0009g0100 a0003c0050t0009g0100	1	306	0.0033	442	c.130 others(461): Show c.1308+1100_1308+1101insCTATAAATATAAAAATATTTATATAT TTATAAATATAAAAATATTTATATATTTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TGATATATTTATCTATAAATATAAAAATATTTATATATTGATATATTTAT CTATAAATATAAAAATATTGATATATTTATCTATAAATATAAAAATATTT ATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAATAT TTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870977	A A	AAGAGAAA others(435): Show AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGA GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGA AAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0012 a0006c0010t0001g0012	2	376	0.0053	442	c.-11 others(453): Show c.-1198_-1197insAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG AGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAG AAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAAAGAA AGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA AGAAAGAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1075		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAGAGAGA others(435): Show GAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAA GAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGA GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAAGAAAGAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAGAGAGAGA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	376	0.0027	442	c.-11 others(453): Show c.-1192_-1191insAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGGAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAG AAAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAGAAAGAAAGAAAGAAAGAAAGAAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG AGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG AGAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ACAP3_chr1_1287391_1312930	1288563	T T	TCCGTCCC others(435): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	295	0.0034	442	c.50 others(453): Show c.5000_*5001insGGCAGAGACACGGGGGACGGGGCAGAGACACGGG ACGGGGCAGAGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGGG CAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGGGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCA GACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGACACGGGGGACGGAGCAGGGACACGGGACGGAGCAGAGACA CGGGACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3827		chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(435): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATAAAAATTTATATTTATATATCATATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATATATCATATATA AAAATTTATATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA19055.hp1 NA18980.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	418	0.0048	442	c.-10 others(453): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT ATAAATTTTTATATATGATATATATAAATTTTTATATATGATATATAAAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATA TAAATTTTTATATATTTATATTTATGATATATAAATATAAATTTTTATAT ATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(435): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATA TCATAAATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATAAAAATTTA TATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAA TTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATA AAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATA TATAAAAATTTATATATATCATATATAAAAATTTATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	442	c.-10 others(453): Show c.-1083_-1082insGATATATATAAATTTTTATATATGATATATATAA ATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATGATATATAAATATAAATTTTTATATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATA TAAATTTTTATATATTTATATTTATGATATATAAATATAAATTTTTATAT ATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(435): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTC CTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	188	0.0053	442	c.-1- others(457): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGGAAGAAGAAGGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAA GAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(435): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGT CGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAG GGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTG GTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCT AGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCC TGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0183 a0003c0004t0004g0183	1	268	0.0037	442	c.441 others(459): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGA GGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGG GAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGA GTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC GGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCC GAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(435): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGT CGGCTGGGAGGCCTAGGGGCCGAGTCTGCCTGGTGGGGCGGGAGGCCTAG GGGCCGAATCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTG GTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCT AGGGGCCGAGTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCC TGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0054 a0003c0004t0054	a0003c0004t0054g0165 a0003c0004t0054g0165	1	268	0.0037	442	c.441 others(459): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGCTGGGA GGCCTAGGGGCCGAGTCTGCCTGGTGGGGCGGGAGGCCTAGGGGCCGAAT CTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGG GAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGA GTCTGCCTGGTCGGCTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC GGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCC GAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	415410	T T	TGGGAGGC others(435): Show TGGGAGGCCTAGGGGCCGAATCTGCCTGGTCTGCTGGGAGGCCTAGGGGC CGAATCTCCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCG GGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGG GCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGT CGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAG GGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTG GTGGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCT AGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCC TGGTGGGGCGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0190 a0002c0002t0001g0190	1	268	0.0037	442	c.441 others(459): Show c.441+2007_441+2008insTGCTGGGAGGCCTAGGGGCCGAATCTCC CTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTCGGGCGGGAGG CCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCT GCCTGGTCGGGCGGGAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGA GGCCTAGGGGCCGAGTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAGT CTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGG GAGGCCTAGGGGCCGAGTCTGCCTGGTCGGGCGGGAGGCCTAGGGGCCGA GTCTGCCTGGTCGGGTGGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGC GGGAGGCCTAGGGGCCGAATCTGCCTGGTGGGGCGGGAGGCCTAGGGGCC GAATCTGCCTGGTC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALLC_chr2_3653200_3707671	3690283	T T	TCCCCCTC others(435): Show TCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCC CTCCCCCTCCCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCGTCCCCCCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCTCCTCCCCTCCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0027 a0003c0003t0002g0027	1	274	0.0037	442	c.512 others(459): Show c.512-5424_512-5423insCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCCCTCCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCGTCCCCCC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCTCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKLE2_chr12_132720503_132766832	132729596	A A	AAGGGGAG others(435): Show AAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGAGGAAGTGAGGGGAGTGGA AGGGTGGGAGGGGAGGGGGAGGTGAGGGGAGGGGGAGGTGAGGGGAGTGG ACGGGTGGGAGGGGGAGGGGGAGGGGAGGGTGGGAGGGGGAGGGGAGGGG AAGGTGAGGGGAGGGGGAGGAGAGGGGAGTGGATGGGTGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGAGTCGACGAGTGGGAGGGGAGGGGAAGGTGAG GGGAGGGGGAGGTGAGGGGAGGGGGGGTGGGAGGGGAGGGGGAGGGTGGG AGGGGAGGGGGAGGGTGGGAGGGGAGGGGGAGGGGAGGATGGGAGGGGAG GGGAGGGGAGGGGAAGGTGAGAGAAGGGGGAGGGGAAGGCGAGGGGAAGG CGAGGGGAGGGGGAGGGGAAGGCGGGAGGGGGAGGGGGAGGCG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0193 a0001c0010t0002g0193	1	350	0.0029	442	c.248 others(457): Show c.2483+82_2483+83insCGCCTCCCCCTCCCCCTCCCGCCTTCCCCT CCCCCTCCCCTCGCCTTCCCCTCGCCTTCCCCTCCCCCTTCTCTCACCTT CCCCTCCCCTCCCCTCCCCTCCCATCCTCCCCTCCCCCTCCCCTCCCACC CTCCCCCTCCCCTCCCACCCTCCCCCTCCCCTCCCACCCCCCCTCCCCTC ACCTCCCCCTCCCCTCACCTTCCCCTCCCCTCCCACTCGTCGACTCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCACCCATCCACTCCCCTCTCCTCCCC CTCCCCTCACCTTCCCCTCCCCTCCCCCTCCCACCCTCCCCTCCCCCTCC CCCTCCCACCCGTCCACTCCCCTCACCTCCCCCTCCCCTCACCTCCCCCT CCCCTCCCACCCTTCCACTCCCCTCACTTCCTCCTCCCCCTCCCCTCACC TCCCCCTCCCCT	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	11/12			chr12	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(435): Show GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGG GGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGT GGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGG GGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGC GGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGG GGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGC GGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGG GGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCC GCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(22): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG02040.hp1 HG02074.hp2 HG02135.hp1 HG02735.hp1 HG02922.hp1 HG03017.hp1 HG03195.hp1 HG03704.hp2 HG04228.hp2 NA20752.hp1 NA20905.hp2	a0001 a0005 a0011 a0001 a0005 a0011	a0001c0001 a0001c0020 a0005c0008 others(1): Show a0001c0001 a0001c0020 a0005c0008 a0011c0016	a0001c0001t0001 a0001c0001t0002 a0001c0020t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0020t0001 a0005c0008t0001 a0011c0016t0001	a0001c0001t0001g0006 a0001c0001t0001g0077 a0001c0001t0001g0078 others(21): Show a0001c0001t0001g0006 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0102 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0020t0001g0169 a0005c0008t0001g0144 a0005c0008t0001g0158 a0005c0008t0001g0161 a0005c0008t0001g0162 a0011c0016t0001g0170 a0011c0016t0001g0171	25	286	0.0874	442	c.539 others(457): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACG CCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATA CCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAG CCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAG CCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATA CCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACG CCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431162	G G	GGGGGTGT others(435): Show GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGG GGGCTCCCGTGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGT GGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGG GGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGC GGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGG GGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGC GGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGG GGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCC GCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	286	0.0035	442	c.539 others(457): Show c.539+531_539+532insTGCAGAAGCCCCCAGATACCCGCGGACGCC CCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCC CGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACG CCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATA CCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAG CCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACC CCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAG CCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATA CCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACG CCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431163	G G	GGGGGTGT others(435): Show GGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGG GGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTG GGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGGG GGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCG GGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGGG GGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGCG GGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGG GGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCG CGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	286	0.0035	442	c.539 others(457): Show c.539+530_539+531insTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGAC GCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGAT ACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGA GCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAA GCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGAT ACCCACGGGAGCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGACG CCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431163	G G	GGGGTGTG others(435): Show GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGGGG GCTTCCGCGGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCG GGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGGG GGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGCG GGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGG GGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCG CGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAA	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	286	0.0035	442	c.539 others(457): Show c.539+530_539+531insTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGAC GCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGAT ACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGA GCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGA AGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGA TACCCACGGGAGCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGAC GCCCCCACACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431163	G G	GGGGTGTG others(435): Show GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGGGG GCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGG GGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGG GCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGCGG GTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGG GGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGC GGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	286	0.0035	442	c.539 others(457): Show c.539+530_539+531insTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACC CCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGA CGCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGA TACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGG AGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACA CCCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGA AGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGA TACCCACGGGAGCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGAC GCCCCCACACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431163	G G	GGGGTGTG others(435): Show GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATCTGGGG GCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGG GGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGG GCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCCCGCGG GTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATCTGGGG GGGCGTCTGCGGGGGTGTGGGGGGCGTCCGCGGGTATCTGGGGGCTTCCG CGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	286	0.0035	442	c.539 others(457): Show c.539+530_539+531insTTGCAGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCCACACC CCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGA CGCCCCCAGGTACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGA TACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGG AGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACA CCCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGA AGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGA TACCCACGGGAGCCCCACACCCCTGCGGAAGCCCCCAGATACCCGCGGAC GCCCCCACACCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431202	A A	AGGGGTGT others(435): Show AGGGGTGTGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGG GGCTCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCG GGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGG GGCGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCG GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGG GGCTCCCGCGGGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTG GGTATCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTG GGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTG CAAGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	286	0.0035	442	c.539 others(457): Show c.539+491_539+492insCTGCGGAAGCCCCCAGATACCCGCGGACGC CCCCACACCCTTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACACCC CCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGACGC CCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGGT ACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGAC GCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCACAC CCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGGAA GCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAGCCCCCAGAT ACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACGGGA GCCCCACACCCC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431205	G G	GGTGTGGG others(435): Show GGTGTGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGT ATCTGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGC GTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGG GTGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGC TCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGT ATCTGGGGGGGCGTCTGCGGGGGGTGTGGGGGCGTCCGCGGGTATCTGGG GGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0190 a0007c0012t0001g0190	1	286	0.0035	442	c.539 others(457): Show c.539+488_539+489insTCCTGCGGAAGCCCCCAGATACCCGCGGAC GCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACAC CCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCCGCAGA CGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCA GATACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCG GACGCCCCCACACCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCA CACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCG GAAGCCCCCAGATACCCGCAGACGCCCCCACACCCCCGCGGAAGCCCCCA GATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACG GGAGCCCCACAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431205	G G	GGTGTGGG others(435): Show GGTGTGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGC TCCCGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGGCGTCTGCGGG TATCTGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGG CGTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGG GGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGG GCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGG GGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCA GGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	286	0.0035	442	c.539 others(457): Show c.539+488_539+489insTCCTGCGGAAGCCCCCAGATACCCGCGGAC GCCCCCACACCCCTGCAGAAGCCCCCAGATACCCGCGGACGCCCCCACAC CCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAGAC GCCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCAGACGCCCCCAGA TACCCGCGGGAGCCCCTACACCCCCGCAGACGCCCCCAGATACCCGCGGA CGCCCCCACACCCCCCGCGGACGCCCCCAGATACCCGCGGGAGCCCCCAC ACCCCCGCAGACGCCCCCAGATACCCGCGGGAGCCCCCACACCCCCGCGG AAGCCCCCAGATACCCGCAGACGCCCCCCACACCCCCGCGGAAGCCCCCA GATACCCACGGGAGCCCCCACACCCCCGCGGACGCCCCCAGATACCCACG GGAGCCCCACAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar

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