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
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(963): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCCTC TCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCC CTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCC CTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCACGTCCTCTCTC TCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCT CCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTC TCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTC CCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTC TCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTC CCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCCTCTC TCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCATCTCC CTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCC CCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTCCTCTC CCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTC CCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCT CCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0187	1	320	0.0031	970	c.380 others(987): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCC CCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCAC ATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCC CTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCC CCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCC CTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCT CCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCG TCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGT CCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTC CCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCC TCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCC CCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCT CTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTC TCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCC CCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTC CCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTC TCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(963): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCCTCCCTCTCTCCCTCACGTCCTCTCTC TCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCT CCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTC TCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTC CCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTC TCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTC CCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCCTCTC TCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCATCTCC CTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCC CCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTCCTCTC CCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTC CCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCT CCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	320	0.0031	970	c.380 others(987): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCCTCCCTCTCTCC CTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCC CCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCC CTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCT CCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCG TCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGT CCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTC CCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCC TCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCC CCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCT CTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTC TCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCC CCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTC CCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTC TCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(963): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCACGTCCTCTCTCT CTCCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCT CCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTC TCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTC CCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTC TCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTC CCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCCTCTC TCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCATCTCC CTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCC CCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTCCTCTC CCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTC CCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCT CCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	320	0.0031	970	c.380 others(987): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCACGTCCTCTCTCTCTCCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCC CCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCC CTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCT CCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCG TCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGT CCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTC CCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCC TCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCC CCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCT CTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTC TCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCC CCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTC CCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTC TCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(963): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCTCTCCC CTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCT CTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCTC CCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCTCTCCC CCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTC CTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCCC CCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCTC TCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCCC CCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCTC CCTCTCCCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTC TCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCCC TCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCCC CTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCT CCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCC TCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTC CCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCT CCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0168 a0002c0002t0015g0168	1	320	0.0031	970	c.380 others(987): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCC TCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCC CTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCC TCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCC CCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCC TCACGTCCTCTCTCTCTCCCCCCTCCCCCTTTCTTCCTCTCCCCCTCTCC CTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTC CTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCC CTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCC CTCTCCCCCTCTCTCCCTCTCCCCCTCTCCCCCTCTCTCCCTCTCTCCCT CTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCC CTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTC TCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCT CCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCC CTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTC CCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTC TCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(963): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCAC TATAACCATCACCACCAACACCACTATAACCACCACTACCACCACCACCA CTATAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTGTAACCATCACCACCACCACTGCTATAACCATCACCACTAC CACTACTACCACTACTACAACCATTACCACCATCACTGCTATAACCACCA CCACCACCACCATTATCACCATCACCATCACACACCACAACTACCACCAC CACCACCATCACCACTATAACCACTAGCACCACCACCACTACTATAACCA TCACCACCGCTATAACCACCATCACCACCACCACTACCACTACTGTAACC ATCACCACCACCACTGCTATAACCACCACCACCACCACTATAACCATCAC CACCATCACCACTATAACCACCACTACCACCACCACCACTATAACCACCA CCACCACCACTATAACCACCATCATCATCACCACCACTACCACTACTACA ACCATTACCACCATCACTGCTATAACCACCACCACCATTATAACCATCAC CACTATAATCATTACCACTATAACCACCACTACCACCACTACCACTATGA TAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTATAACC ATCACCACCATCACCACTATAACCACCACCACCACTATAACCACCATCAT CACCACCACCACTATAACCACCATCATCATCACCACCACTACCACTACTG TAACCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0153 a0001c0004t0003g0153	1	230	0.0044	970	c.724 others(989): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTACAGTA GTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGATGAT GGTGGTTATAGTGGTGGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTA TAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTATCATA GTGGTAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGAT GGTTATAATGGTGGTGGTGGTTATAGCAGTGATGGTGGTAATGGTTGTAG TAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTG GTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGAT GGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGGTGGTGGTGATGGTTA CAGTAGTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTT ATAGTAGTGGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGT GGTAGTTGTGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTG GTTATAGCAGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGT GGTGATGGTTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGG TGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTG GTGGTGGTAGTGGTGGTTATAGTGGTGTTGGTGGTGATGGTTATAGTGGT GGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAGTAGTGGTAG TGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTG GTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGT GGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DGKB_chr7_14140049_14907751	14471369	A A	ACATACAT others(963): Show ACATACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTAT ATATGTGTATACATACATATATGTGTGTATATATGTGTATATATACATAT ATGTGTGTATATATACATATATGTGTGTATATGTGTGTATACATACATAT ATGTGTGTATATGCGTGTATATATGTGTATACACACATATGCGCGTGTAT ATATGTGTATACACACATATGCGCGTGTATATATGTGTATACACACATAT GCGCGTGTATATATGTGTATACACACATATGCGCGTGTATATATGTGTAT ACACACATATGCGCGTGTATATATGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACATAT GCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACATAT GCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACATATGCGTGTGTATAT GTGTGTATACACATATGCGTGTGTATATGTGTGTATATACATATGCGTGT GTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATAT GCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATAT ACATATGCGTGTGTATATGTGTGTATATACATATATATGAGTGTATATGT GTGTATATACATATATATGAGTGTATATATGTGTATATATACATATATAT GCGTGTATATATACGTATATATGCATGTATATATGTGTATACATACATAT ATGCATGTATATATGTGTATT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0110 a0003c0011t0002g0110	1	148	0.0068	970	c.183 others(989): Show c.1835+6791_1835+6792insAATACACATATATACATGCATATATG TATGTATACACATATATACATGCATATATACGTATATATACACGCATATA TATGTATATATACACATATATACACTCATATATATGTATATACACACATA TACACTCATATATATGTATATACACACATATACACACGCATATGTATATA CACACATATACACACGCATATGTATATACACACATATACACACGCATATG TATATACACACATATACACACGCATATGTATATACACACATATACACACG CATATGTATATACACACATATACACACGCATATGTGTATACACACATATA CACACGCATATGTGTATACACACATATACACGCGCATATGTGTGTATACA CACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATATG TGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATACA CGCGCATATGTGTGTATACACACATATACACGCGCATATGTGTGTATACA CACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATATG TGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATACA CGCGCATATGTGTGTATACACATATATACACGCGCATATGTGTGTATACA CATATATACACGCGCATATGTGTGTATACACATATATACACGCGCATATG TGTGTATACACATATATACACGCGCATATGTGTGTATACACATATATACA CGCGCATATGTGTGTATACACATATATACACGCATATACACACATATATG TATGTATACACACATATACACACATATATGTATATATACACACATATATG TATATATACACATATATACACACATATATGTATGTATACACATATATACA CACATATATGTATGTATACACATATATACACACATATATGTATG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DNAJC11_chr1_6629170_6706816	6705535	G G	GTCTTGGC others(963): Show GTCTTGGCTCACTGCAACCTTGGCTTCCTGGGTTCAAGCGATTCTCCTGC CTCTACCTCCCAAGTAGCTGGGATTACAGGCGCCTGCCACCATGCCCAGC TAATTTTTGTATTTTTAGTAGAGATGGGGGTTTCGCCATGTTAGCCAGGC TGGTCTCAAACCCCTGACCTCAGGTGATCCGCCTGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCTTGAGCTAGCATACCCGGCCCCATCTTTAAATA GTAAACATAAGAATATTTACCTCCACCATGATTCATATGCAGAATGACCC CAAAACATTTTGGCTTCCAGCACAGCTACTCTGTGTAGCCGCTCAGGAAG GTTTCTCTGTTAATGGCTCAGTCCAGTTCTGGGACCCTCCCTATAGCACT GGAGGTAGGTTGCCAGATGAAATACACTATGCTCAGCTATATTTGCATTT TAGATGAACAATGAAGAATTTTTTAGTATAAGTATACCAAGGACTGGGTG CAGTGGCTCATGCCTGTAATCACATCACTTTGGGAGGCCAAGGTGGTCAG ATCTCTTGAGCCCAGGAGTTCAAGACAAGCCTGGGCCACATGGTGAAACC CCCAACTCTACACAAAATGCAAAAATTAGCCAGGCATGGTGGCACATGCT TTTGGTCCCAGCCACTTGGGAGGCTGAGATGGGAGGATCACCAGAGCCCG GGGAGGTCGAGGCTGCAGTGAGCTGTGATAATGCCACTGCACTCCAGCCT GGGTGACAGATTGAGACCCTGTCTCAAAAAAAAAACAAAACATATATATA TATATATATATACATACACACACACACACACACACACATCACATTGTATG GGGATGTATACATATACTAAATAACTACTTTTCTGGGAATCCTGCTTTAT TTTTTTATTTTATTTTATTTTTTTGAGATGGAGTCTTGCTCTGTTGCCCT GTCTGGAGTGCAGCGGCATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0249 a0001c0002t0003g0249	1	366	0.0027	970	c.-37 others(981): Show c.-3736_-3735insTCATGCCGCTGCACTCCAGACAGGGCAACAGAGC AAGACTCCATCTCAAAAAAATAAAATAAAATAAAAAAATAAAGCAGGATT CCCAGAAAAGTAGTTATTTAGTATATGTATACATCCCCATACAATGTGAT GTGTGTGTGTGTGTGTGTGTGTATGTATATATATATATATATATATGTTT TGTTTTTTTTTTGAGACAGGGTCTCAATCTGTCACCCAGGCTGGAGTGCA GTGGCATTATCACAGCTCACTGCAGCCTCGACCTCCCCGGGCTCTGGTGA TCCTCCCATCTCAGCCTCCCAAGTGGCTGGGACCAAAAGCATGTGCCACC ATGCCTGGCTAATTTTTGCATTTTGTGTAGAGTTGGGGGTTTCACCATGT GGCCCAGGCTTGTCTTGAACTCCTGGGCTCAAGAGATCTGACCACCTTGG CCTCCCAAAGTGATGTGATTACAGGCATGAGCCACTGCACCCAGTCCTTG GTATACTTATACTAAAAAATTCTTCATTGTTCATCTAAAATGCAAATATA GCTGAGCATAGTGTATTTCATCTGGCAACCTACCTCCAGTGCTATAGGGA GGGTCCCAGAACTGGACTGAGCCATTAACAGAGAAACCTTCCTGAGCGGC TACACAGAGTAGCTGTGCTGGAAGCCAAAATGTTTTGGGGTCATTCTGCA TATGAATCATGGTGGAGGTAAATATTCTTATGTTTACTATTTAAAGATGG GGCCGGGTATGCTAGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCGA GGCAGGCGGATCACCTGAGGTCAGGGGTTTGAGACCAGCCTGGCTAACAT GGCGAAACCCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTG GCAGGCGCCTGTAATCCCAGCTACTTGGGAGGTAGAGGCAGGAGAATCGC TTGAACCCAGGAAGCCAAGGTTGCAGTGAGCCAAGA	DNAJC11	ENSG00000007923.17	transcript	ENST00000377577.10	protein_coding		3720		chr1	TogoVar
DPEP1_chr16_89608642_89643433	89619524	T T	TGCTCCCC others(963): Show TGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGC CCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCC CCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTC CCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTC CCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTG CCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGC TCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCC CTGCAGCCCCCCTGCCCCCCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	250	0.0040	970	c.-10 others(989): Show c.-107+5814_-107+5815insCCTGCAGCCCCCTGCCCCCCCGCTCC CCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGC AGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCT CCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTG CCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCT GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCC CCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCC CTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCC TCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCC CCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCGCTCCCCTC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYSF_chr2_71448561_71691763	71618411	T T	TGGCATGT others(963): Show TGGCATGTGTGGTAGAGGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTG TGTGGTGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGGTG TGTGGTGTGGTAGAGGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGG TATATGTGTGTGTGGTAGAGGTGGACGTATATGTGTGTGTGGTAGAGGTG GGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGT AGAGGTGTGTGTGTGGTAGGGGTGGTGTGTGTGTTTGGTAGAGGTGTGTG TGTGGTAGAGGTGGGTGTGTTGTGTGGGGTAGAGTTGTGTGTGGTAAGGT GGTGTGTGTGTGTGGTTGAGGTGGGGTGTGTGTGGTAGGGGTGTGTGTGT GTGGTAGGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTG TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGGTGTGTGTGG GTGGGGTACGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAG AGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAG TGTGTGTGTGTGGGTGAGGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGT GTGTGTGTGGTGGGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGGT AGAGGGTGGGGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTTGGTAGAGGTGTGTGTG TGGTGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGGTGTGTGTGTGGGGG GGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGGTGTGTGTGTGGTGAGG TGGAGTGTGTGTGTGTGTGGGTAGAGGTGTGTGTGTGGGTAGAGGTGGTG TGTGTGTGTGTGGTAGGGTGG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	192	0.0052	970	c.441 others(989): Show c.4410+5003_4410+5004insCATGTGTGGTAGAGGGTGGGGGTGTG TGTGTGTGGTAGAGGTGTGTGTGTGGTGAGGTGTGTGTGTGTGGTAGAGG TGTGTGTGGTAGAGGTGGGTGTGTGGTGTGGTAGAGGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGACGTA TATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGGGGTGGTGTG TGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGTGTGTTGTGTGGGG TAGAGTTGTGTGTGGTAAGGTGGTGTGTGTGTGTGGTTGAGGTGGGGTGT GTGTGGTAGGGGTGTGTGTGTGTGGTAGGGTGTGTGTGTGGTAGAGGTGA TGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGT GGTAGAGGTGGGTGTGTGTGGGTGGGGTACGTTGTGTGTGTGTGGTAGAG GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGTGAGGGTGTGGTGTG TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTGGGGTGGTGTGTGTGTGT GGTAGAGGTGGTGTGTGTGGTAGAGGGTGGGGTGTGTGTGGTAGAGGTGG GGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGT GTTTTGGTAGAGGTGTGTGTGTGGTGAGGTGGGGTGTGTGTGTGTGGTAG AGGTGGGTGTGTGTGTGGGGGGGGGGTAGAGTTGTGTGTGTGTGGTAGAG GTGGGTGTGTGTGTGGTGAGGTGGAGTGTGTGTGTGTGTGGGTAGAGGTG TGTGTGTGGGTAGAGGTGGTGTGTGTGTGTGTGGTAGGGTGGGG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618411	T T	TGGCATGT others(963): Show TGGCATGTGTGGTAGAGGGTGGGGGTGTGTGTGTGTGGTAGAGGTGTGTG TGTGGTGAGGTGTGTGTGTGTGGTAGAGGTGTGTGTGGTAGAGGTGGGTG TGTGGTGTGGTAGAGGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGGG TATATGTGTGTGTGGTAGAGGTGGACGTATATGTGTGTGTGGTAGAGGTG GGGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGGTATGTGTGGT AGAGGTGTGTGTGTGGTAGGGGTGGTGTGTGTGTTTGGTAGAGGTGTGTG TGTGGTAGAGGTGGGTGTGTTGTGTGGGGTAGAGTTGTGTGTGGTAAGGT GGTGTGTGTGTGTGGTTGAGGTGGGGTGTGTGTGGTAGGGGTGTGTGTGT GTGGTAGGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTG TGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGGTGTGTGTGG GTGGGGTACGTTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGTGGTAG AGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAG TGTGTGTGTGTGGGTGAGGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGT GTGTGTGTGGTGGGGTGGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGGT AGAGGGTGGGGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTTGGTAGAGGTGTGTGTG TGGTGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGGTGTGTGTGTGGGGG GGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGGTGTGTGTGTGGTGAGG TGGAGTGTGTGTGTGTGTGGGTAGAGGTGTGTGTGTGGGTAGAGGTGGTG TGTGTGTGTGTGGTAGGGTGG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	208	0.0048	970	c.446 others(989): Show c.4465-2134_4465-2133insCATGTGTGGTAGAGGGTGGGGGTGTG TGTGTGTGGTAGAGGTGTGTGTGTGGTGAGGTGTGTGTGTGTGGTAGAGG TGTGTGTGGTAGAGGTGGGTGTGTGGTGTGGTAGAGGTGTGTGTGGTAGA GGTGTGTGTGTGGTAGAGGGGTATATGTGTGTGTGGTAGAGGTGGACGTA TATGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGGTAGAGGTGTGTGTGT GGTAGAGGTGGTATGTGTGGTAGAGGTGTGTGTGTGGTAGGGGTGGTGTG TGTGTTTGGTAGAGGTGTGTGTGTGGTAGAGGTGGGTGTGTTGTGTGGGG TAGAGTTGTGTGTGGTAAGGTGGTGTGTGTGTGTGGTTGAGGTGGGGTGT GTGTGGTAGGGGTGTGTGTGTGTGGTAGGGTGTGTGTGTGGTAGAGGTGA TGTGTGTGTTTGGTAGAGGTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGT GGTAGAGGTGGGTGTGTGTGGGTGGGGTACGTTGTGTGTGTGTGGTAGAG GTGTGTGTGTGTGTGTGGTAGAGGTGGTGTATGTGTGTGGTAGAGGTAGG GTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGTGAGGGTGTGGTGTG TGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTGGGGTGGTGTGTGTGTGT GGTAGAGGTGGTGTGTGTGGTAGAGGGTGGGGTGTGTGTGGTAGAGGTGG GGGGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGT GTTTTGGTAGAGGTGTGTGTGTGGTGAGGTGGGGTGTGTGTGTGTGGTAG AGGTGGGTGTGTGTGTGGGGGGGGGGTAGAGTTGTGTGTGTGTGGTAGAG GTGGGTGTGTGTGTGGTGAGGTGGAGTGTGTGTGTGTGTGGGTAGAGGTG TGTGTGTGGGTAGAGGTGGTGTGTGTGTGTGTGGTAGGGTGGGG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
HOMEZ_chr14_23267422_23291132	23280705	T T	TATATTTT others(963): Show TATATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	394	0.0025	970	c.41- others(985): Show c.41-3519_41-3518insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATATAAAATAAAATAAAATAT	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
JAKMIP3_chr10_132060946_132189858	132173147	C C	CCTCTCTC others(963): Show CCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCACCCCCTCCCCCTC CTTCCCTCTCTCTCTCCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCC TTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCT CTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCT CTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCGCTC CCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCT CTCTCTCCCCCTCCCCCTCCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTC TCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCTCTCCCCCTCCCCCT CCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCTCCCCCCT CTCTCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCT CTCTCCCCCTCCCCCCTCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTC CCCCATACCCCTCCCCCTCCCCTATCCCCCTCCCCCATCCCCCTCCCCCT CCCCCATCCCCCTCCCCCTCCCCCATCCCCCTCCCCCTCCCCCATCCCCC TCCCCCTCCCCCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCC TTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTC TCTCTCTCCCCCCCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTC TCTCTCTCCCCCTCCTTCCCT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0040 a0004c0011t0040	a0004c0011t0040g0060 a0004c0011t0040g0060	1	158	0.0063	970	c.11 others(991): Show c.1103+4125_*1103+4126insCCCCTCCCCCTCCTTCCCTCTCTC ACCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCCTCCCCCTCCTTCCCT CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCTTCCCTCT CTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCT CCTTCCCTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCTTCC CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCC TCCCCCTCTCGCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTC TCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCCTCTCCCCTCCC CCTCTCTCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCT CTCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCTCCCC CTCCCCTCCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCCT CTCTCTCCCCCTCTCTCTCCCCCTCCCCCCTCCCCCTCCCCCATCCCCCT CCCCCATCCCCCTCCCCCATACCCCTCCCCCTCCCCTATCCCCCTCCCCC ATCCCCCTCCCCCTCCCCCATCCCCCTCCCCCTCCCCCATCCCCCTCCCC CTCCCCCATCCCCCTCCCCCTCCCCCATCCCCCTCCCCCTCCTTCCCTCT CCCCCTCCCCCTCCTTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCCCCCC TCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCC CCTCCTTCCCTCTCTCTCTCTCCCCCCCCTTCCCTCTCTCTCTCTCCCCC TCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KANK1_chr9_499695_751103	514270	T T	TCCTCCCT others(963): Show TCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCT CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCT CCCTCCCTCCCTCCCTCCTCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCTCCCTCCCTCC CTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTTCCTCCCT CCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCTCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCTCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCTCTCCCTCCC TCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTCCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCCTCCCTCCCTCC CTCTCTCCCTCCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCCT CCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCTCTCC CTCCCTCCCTCCCTCTCTTCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCT CCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCT CTCCCTCCCTCCCTTCCTCTCTCCCTCCCTTCCTCCCTCCCTCCCTCCTT CCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0005 a0008c0008t0005	a0008c0008t0005g0003 a0008c0008t0005g0003	1	254	0.0039	970	c.-84 others(987): Show c.-84+9519_-84+9520insCCCTCCCTCCCTCCCTCCCTTCCTCTCT CCCTCCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CTCTCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCTCCTTCCTCTCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCT TCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCCCTTC CTCTCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCT CCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCC CTCTCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCC CTTCCCTCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTC TCCCTCCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTC CCTCCCCTCCCTCCCTCCCTCTCTCCCTCCTTCTCTCCCTCCCTCCCTCC CTTCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTCTCCCT CCCTCCCTTCCTCTCTCCCTCCCTCCCTCCCTCTCTTCCTCCCTCTCTCC CTCCTTCTCTCCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCTCTCCCTCCCTCCCTTCCTCTCTCCCTCCCTTC CTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCT	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATATTTA others(963): Show CATATTTATATATATATACATATTTATATATACATATTTATACATATTTA TATATACATATTTATATACATTTATATACATATTTATATATACATTTATA TATACATTTATATATACATATTTATATATATTTATATATATTTATAGATA TATATTTATAGATATATATTTATATATATTTATTTATATTTATATATATA TTTATATATATATATTTATATTTATATTTATATTTATATTTATTTATATT TATATATATTTATATATATTTATATATTTATATATATTTATATATATTTA TATATATTTATATATTTATATATATTTATATATATTTATATATATATTTA TATATTTATATATATTTATATTTATATATTTATATATATTTATATTTCTA TTTATTTATATATATTTATATTTATTTATATTTATATATTAATATATATA TTTATATTTATATATATTTATATTTATATATATTTATATTTATATTTATA TTTATTTATATTTATATATATTTATATACATATATTTATATATATATTTA TATATATTTATATACATATATTTATATATATATTTATATATATTTATATA TATATTTATATACATATATTTATACATATATTTATATATATATTTATATA CATATATTTATACATATATTTATATATATATTTATATACATATATTTATA TATATATTTATATATATATTTATATACATATATTTATATATATATTTATA TACATATATTTATATATTTATATATATTTATATATATTCATATTTATATT TATATATATTTATATATATATTTATATTTATATATATATTTATATTTAAT TATATTTATATATATTTATATATATATTTATATTTGTATATATTTATATA TATGTATATTTATATATATTTATATATTTATATATTTATATTTATATATA TCTATATATTTATATATATTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01978.hp2 HG02300.hp2 others(2): Show HG01358.hp2 HG01978.hp2 HG02300.hp2 NA18960.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0039 a0001c0001t0009 a0001c0001t0039	a0001c0001t0009g0001 a0001c0001t0009g0004 a0001c0001t0009g0007 others(2): Show a0001c0001t0009g0001 a0001c0001t0009g0004 a0001c0001t0009g0007 a0001c0001t0009g0009 a0001c0001t0039g0002	5	242	0.0207	970	c.174 others(989): Show c.1749-3774_1749-3773insTTATATATATATACATATTTATATAT ACATATTTATACATATTTATATATACATATTTATATACATTTATATACAT ATTTATATATACATTTATATATACATTTATATATACATATTTATATATAT TTATATATATTTATAGATATATATTTATAGATATATATTTATATATATTT ATTTATATTTATATATATATTTATATATATATATTTATATTTATATTTAT ATTTATATTTATTTATATTTATATATATTTATATATATTTATATATTTAT ATATATTTATATATATTTATATATATTTATATATTTATATATATTTATAT ATATTTATATATATATTTATATATTTATATATATTTATATTTATATATTT ATATATATTTATATTTCTATTTATTTATATATATTTATATTTATTTATAT TTATATATTAATATATATATTTATATTTATATATATTTATATTTATATAT ATTTATATTTATATTTATATTTATTTATATTTATATATATTTATATACAT ATATTTATATATATATTTATATATATTTATATACATATATTTATATATAT ATTTATATATATTTATATATATATTTATATACATATATTTATACATATAT TTATATATATATTTATATACATATATTTATACATATATTTATATATATAT TTATATACATATATTTATATATATATTTATATATATATTTATATACATAT ATTTATATATATATTTATATACATATATTTATATATTTATATATATTTAT ATATATTCATATTTATATTTATATATATTTATATATATATTTATATTTAT ATATATATTTATATTTAATTATATTTATATATATTTATATATATATTTAT ATTTGTATATATTTATATATATGTATATTTATATATATTTATATATTTAT ATATTTATATTTATATATATCTATATATTTATATATATTTATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATATTTA others(963): Show CATATTTATATATATATACATATTTATATATACATATTTATACATATTTA TATATACATATTTATATACATTTATATACATATTTATATATACATTTATA TATACATTTATATATACATATTTATATATATTTATATATATTTATAGATA TATATTTATAGATATATATTTATATATATTTATTTATATTTATATATATA TTTATATATATATATTTATATTTATATTTATATTTATATTTATTTATATT TATATATATTTATATATATTTATATATTTATATATATTTATATATATTTA TATATATTTATATATTTATATATATTTATTTATATTTATATATATATTTA TATATTTATATATATTTATATTTATATATTTATATATATTTATATTTCTA TTTATTTATATATATTTATATTTATTTATATTTATATATTAATATATATA TTTATATTTATATATATTTATATTTATATATATTTATATTTATATTTATA TTTATTTATATTTATATATATTTATATACATATATTTATATATATATTTA TATATATTTATATACATATATTTATATATATATTTATATATATTTATATA TATATTTATATACATATATTTATACATATATTTATATATATATTTATATA CATATATTTATACATATATTTATATATATATTTATATACATATATTTATA TATATATTTATATATATATTTATATACATATATTTATATATATATTTATA TACATATATTTATATATTTATATATATTTATATATATTCATATTTATATT TATATATATTTATATATATATTTATATTTATATATATATTTATATTTAAT TATATTTATATATATTTATATATATATTTATATTTGTATATATTTATATA TATGTATATTTATATATATTTATATATTTATATATTTATATTTATATATA TCTATATATTTATATATATTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19007.hp2 NA18982.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0005 a0001c0001t0009g0006 a0001c0001t0009g0005 a0001c0001t0009g0006	2	242	0.0083	970	c.174 others(989): Show c.1749-3774_1749-3773insTTATATATATATACATATTTATATAT ACATATTTATACATATTTATATATACATATTTATATACATTTATATACAT ATTTATATATACATTTATATATACATTTATATATACATATTTATATATAT TTATATATATTTATAGATATATATTTATAGATATATATTTATATATATTT ATTTATATTTATATATATATTTATATATATATATTTATATTTATATTTAT ATTTATATTTATTTATATTTATATATATTTATATATATTTATATATTTAT ATATATTTATATATATTTATATATATTTATATATTTATATATATTTATTT ATATTTATATATATATTTATATATTTATATATATTTATATTTATATATTT ATATATATTTATATTTCTATTTATTTATATATATTTATATTTATTTATAT TTATATATTAATATATATATTTATATTTATATATATTTATATTTATATAT ATTTATATTTATATTTATATTTATTTATATTTATATATATTTATATACAT ATATTTATATATATATTTATATATATTTATATACATATATTTATATATAT ATTTATATATATTTATATATATATTTATATACATATATTTATACATATAT TTATATATATATTTATATACATATATTTATACATATATTTATATATATAT TTATATACATATATTTATATATATATTTATATATATATTTATATACATAT ATTTATATATATATTTATATACATATATTTATATATTTATATATATTTAT ATATATTCATATTTATATTTATATATATTTATATATATATTTATATTTAT ATATATATTTATATTTAATTATATTTATATATATTTATATATATATTTAT ATTTGTATATATTTATATATATGTATATTTATATATATTTATATATTTAT ATATTTATATTTATATATATCTATATATTTATATATATTTATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(963): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCTCCCCCCTGCCCTCCCCCCTCCCCTC CCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCT CCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCC CCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCTCCCCCTCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTCCCT CCCCCCTCCCCCCTTCCCTCCCCTCCCCCCTTCCCTCCCCCCTCCCCCCT TCCCTCCCCCTCCCCCCTTCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTT CCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCTCCC CTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCTCCC CTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTC CATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCCCTT CGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTTCC CTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCC CCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTCCCC TCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCC CCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCT CCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0161	1	278	0.0036	970	c.115 others(987): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCCTGCCCTCCCCCCTCCC CTCCCTCCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCC CCTCCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTC CCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCCCTTC CCTCCCCCCTCCCCCCTTCCCTCCCCTCCCCCCTTCCCTCCCCCCTCCCC CCTTCCCTCCCCCTCCCCCCTTCCCTCCCCCCTCCCCTCCCCCCTCCCCC CTTCCCTCCCCTCCACCCTCCCCCTCTCCTCCCCTCCCTTCCCCTCCCCT CCCCTCCCTTCCCCTCCCCTCCCCTTCCCTCCCGCCTCCCCTTCCCCCCT CCCCTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCA TTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCC CTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTT TCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCC TCCCCTCCCCCCTCCTCCCCCTCCCTTCCCCTCTGCTTGCCCCTTCCCTC CCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCC TCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCC CCTCCCCACCCCTCCCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GAAGGAGG others(963): Show GAAGGAGGGGGAAGGAGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGA AGGGGAGGGGCAGGGGGGGAGGGGGAAAAGGGCGGGGAAGGGGGGAAAAG GGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGGAAGGGGGGAAGGGGAAAG GGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGG GGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGGAGGGGAGGGGAGGGATGGGAGGGGAGGGGAGGGGGGAGGGGGGAG GGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGA GGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGAAGGGG GGAGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGG GGGGAGGGGAGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGG AGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAGG GGAGGGGGAGGGAAGAGGGAGGGGGAGGGGGGAGGGAAGAGAGGGAGGGG GAGGGGGAGGGAAGGGAGGGAGGGAGGGGGAGGGAGGGAGGGGAGTGGAG GGGGAGGAGGAGGGAGGGGAGTGGAGGGGGAGGGGAGGGAGGGGAGGGGA GGGGGAGGGGGAGGGAAGGGAGGGAGAGGGGAGGGGAGGGGAGTGGAGGG GGGAGGGGGAGGGAGGGAGGGATGGGAGTGGAGGGGGGAGGGGGAGGGAG GGGAGGGGAGGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGGAGGGGGAGG GAGGGGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	272	0.0037	970	c.250 others(985): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCCTCCACTCCCATCCCTCCCTCCCTCCCCCTCCCCCCTCCACT CCCCTCCCCTCCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCC CTCCCTCCCCTCCCCCTCCACTCCCCTCCCTCCTCCTCCCCCTCCACTCC CCTCCCTCCCTCCCCCTCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCT CTCTTCCCTCCCCCCTCCCCCTCCCTCTTCCCTCCCCCTCCCCTCCCTCT CTTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTC CCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCCTTCCC TCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCC CTCCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCCCTCCCCTCCCCTCCCATCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATC CTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCT TCCCCCCTTCCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCC CCTTCCCCGCCCTTTTCCCCCTCCCCCCCTGCCCCTCCCCTTCTCCCCTC CCCCTTTCCGCCTTCCTCCTTCCCCTCCTTCCCCCTCCTT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136535781	A A	AGGGGGGA others(963): Show AGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT GGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT CGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGT GGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGG GTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CATGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	324	0.0031	970	c.140 others(987): Show c.140+8242_140+8243insGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCATGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGCAC CCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCTGC ACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCCCACCCACCCT GCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACC CTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACC CTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACC CTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	841628	A A	AAGCAGGT others(963): Show AAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCC CCCGACCACAGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGG CGCATCTCACGCCGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGG TCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCGACC ACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCACGGCGCATCTC ACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGCGCATCTCATGCCGGCGAGCAGGTCCCCCC GACCACGGCGCATCTCACACCCACGGGCAGGTCCCCCCTGACCACGGAGC ATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACCC ACAGGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTC CCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCA CGGCGCATCTCACACCCACAGGCAGGTCCCCCCTGACCACAGCGCATCTC ACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAG CAGGTCCACCCTGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCC TGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAG CATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACG GGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGT CCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCCCCTGACC ACGGAGCATCTCACACGGGCG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	242	0.0041	970	c.361 others(989): Show c.361-15551_361-15550insCGCCCGTGTGAGATGCTCCGTGGTCA GGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTG CTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGT GAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGG GACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGC CCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGAT GCGCTGTGGTCAGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTC AGGGTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCT GCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCCTGTGGGTG TGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCTCC GTGGTCAGGGGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGG GACCTGCTCGCCGGCATGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGC CCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGAT GCGCCGTGGTCGGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCG GGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGC TCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTG AGATGCGCCGTGGTCGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTG GTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCTGTGGTCGGGGGGAC CTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGC others(963): Show GGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAAC CCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGGCTGGGGTCAGAG AGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGG GGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGG TCACACTGTGGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGTGGGGGGGGGCTGGGGTCAGAGAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCT GGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCAC ACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTA CCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTG GAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCA GACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGG GGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGG ACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCC GGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGACAGA CCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGG CTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTC ACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGG TACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0066 a0001c0001t0012g0066	1	242	0.0041	970	c.360 others(989): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGT CTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTT CCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTG GTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACA GTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACT CCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACC TTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCT GCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGAC CGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCC CCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCT CTCTGACCCCAGCCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACCCCAGCCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGG TACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OPCML_chr11_132409981_133537501	133354205	G G	GTGGTGGT others(963): Show GTGGTGGTGGTGATGACGTAATGATGCTGGTGGTGATGGTGATGGCCGGG GTGACGATGATGCTGGTGGTTGTGGTGATTGGGTGGTGATAATTGTGATG GTGATGCCGATGCCGGTGGTGATGGCAGTGGGAGTGGTGATGGTGATGGT AGTGTGGTGGTGGTGATGTTGATAGTGCTAGTGGTGATGATGGTGGTGAT GGTGATGGTAGTGATGATAGTGATGATGCTGGTGGTGGTGATGATGGTGA TGGTGATGATGCTGTTGGTGGTGGTGATGGTGGTAGTGCTAGTGATGGTG GTGACAGTGATGGTCACGGTGATGGTAGTGGGGCTAGTGGTGGTGGTAGT GATGATGGTGGTGGTGATGATGCTGGTGGTGATGGTGGTGATAATGTTGA TAGTGGTGGTGGTGGTGGTGGTGATAGTGATGATGGTGCTGGTGGTGGTG ACATGTTGGTGGTGGTAGTGATGATGGCAGTGGTGACGGTGATGCTGGTG GTGATGGTGGTGATAATGTTGATGGTGGTGGTGATGATGCTGGTGCTGGT GGTGATGGTGGTAATAATGGTGATAGTGGTGGTGGTAGTAGTGGTGATAG TGATGATGATGCTGGTGGTGGTGACATGTTGGTGGTGGTAGTGATGATGG CGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGATGATGCTGGTGCTG GGGGTGATGGTGGTGATAATGGTGATAGTGGTGGTGGTAGTGGTGGTGAT AGTGATGATGGTGCTGGTGATGGTGGTGGTGGTAGTGGTAGTGATGATGG CGGTGGTGATGGTGATGCTGGTGGTGATGGTGGTGATAATGGTGATAGTG GTGGTGGTAGTGGTGGTGATGATGCTGGTGGTGATGGTGGTGATAATGGT GATAGTGGTGGTGGTAGTGGTGGTGATGATGCTGGTGGTGATGGTGGTGG TAATGGTGATAGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01258.hp1 HG01496.hp1 HG01255.hp1 HG01258.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 a0001c0001t0001 a0001c0001t0008 a0001c0001t0016	a0001c0001t0001g0011 a0001c0001t0008g0010 a0001c0001t0016g0012 a0001c0001t0001g0011 a0001c0001t0008g0010 a0001c0001t0016g0012	3	68	0.0441	970	c.61+ others(989): Show c.61+178058_61+178059insTCACCACCACTATCACCATTACCACC ACCATCACCACCAGCATCATCACCACCACTACCACCACCACTATCACCAT TATCACCACCATCACCACCAGCATCATCACCACCACTACCACCACCACTA TCACCATTATCACCACCATCACCACCAGCATCACCATCACCACCGCCATC ATCACTACCACTACCACCACCACCATCACCAGCACCATCATCACTATCAC CACCACTACCACCACCACTATCACCATTATCACCACCATCACCCCCAGCA CCAGCATCATCACCACCATCACCACCAGCATCACCATCACCACCGCCATC ATCACTACCACCACCAACATGTCACCACCACCAGCATCATCATCACTATC ACCACTACTACCACCACCACTATCACCATTATTACCACCATCACCACCAG CACCAGCATCATCACCACCACCATCAACATTATCACCACCATCACCACCA GCATCACCGTCACCACTGCCATCATCACTACCACCACCAACATGTCACCA CCACCAGCACCATCATCACTATCACCACCACCACCACCACCACTATCAAC ATTATCACCACCATCACCACCAGCATCATCACCACCACCATCATCACTAC CACCACCACTAGCCCCACTACCATCACCGTGACCATCACTGTCACCACCA TCACTAGCACTACCACCATCACCACCACCAACAGCATCATCACCATCACC ATCATCACCACCACCAGCATCATCACTATCATCACTACCATCACCATCAC CACCATCATCACCACTAGCACTATCAACATCACCACCACCACACTACCAT CACCATCACCACTCCCACTGCCATCACCACCGGCATCGGCATCACCATCA CAATTATCACCACCCAATCACCACAACCACCAGCATCATCGTCACCCCGG CCATCACCATCACCACCAGCATCATTACGTCATCACCACCACCA	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(963): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGGGGAGAGAAGGGGAGAG AAGGGGAGAGAGAAGGGGAGAGAAGGGGAGGGGGAGGAGGGGGAGAGGGG GAGAGGTGGAGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGG GGAGGAGGGGGAGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAG GGGGAGGAGGGGGAGAGGGGGAGGAGGGGGGGAGGGGGGGAGGGGAGAGG GGGAGAGGGGGAGAGGGGGAGGGGGAGGAGGGGGAGAGGGGAGGAGGGGG AGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGG GAGAGGGGGAAGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGG TGAGAGAGGGCGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGG TGAGAGAGAGGGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAG GGCGAGAGAGAGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCA GGCGAGAGAGAGGGCGGGTGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAG AGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAG AGGGCGGGCAAGAGAGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAG GGCGAGAGGGAGAGGGAGAGAAAGAGGGAGAGAAAGAGGGAGAGAAAGAG GGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	308	0.0033	970	c.371 others(987): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTTTCTCTCCCTCTTTCTCTCCCTCTCCCTCTCGCCCTCTCCC TCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGCCCGCCCTCTCTCTC TCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTC TCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCGCCTGCCCTC TCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCGCCCTCGCCC TCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCTCACCTGCCC TCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCTCACCCGCCC TCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTCTCCCCCTCC TCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTC CTCCCCTCTCCCCCTCCTCCCCCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCTCCCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCC CCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCCT CCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCTCT CCCCCTCCTCCCCCTCCCCTTCTCTCCCCTTCTCTCTCCCCTTCTCTCCC CTTCTCTCCCCCTCTCCCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTC CCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCC CTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCC CCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCC TTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(963): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATGGGGAGAGAAGGGGATG GGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGGGGGAGAGAAGGGGAGGGG GAGACAAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGG GGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAGGGGGAGGGGG AGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAAGGAGAGGGGGAGAGGG GGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGG GGAGGGGGAGGAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGGAGAGGGGG AGAGGTGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGG GGGAGAGGGGGAGGAGGGGGGGAGGGGGAGAGGGGGAGGAGGGGGGGAGG GGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGGGGGA GGAGGGGGAGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGAGGGGGAG GAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGA AGTGGGAAGGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGG CGAGTGAGAGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAG GGCGAGAGAAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAG AGAGAGGGCGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAG AGGGCGGGTGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAG AGAGAGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGGGCAAGAG AGAGAGTGAGAGGGCGAGAGGGAGAGAGAGGGAGAGGGCGAGAGGGAGAG GGAGAGAAAGAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0070 a0002c0002t0001g0070	1	308	0.0033	970	c.371 others(987): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTCCC TCTCGCCCTCTCCCTCTCTCTCCCTCTCGCCCTCTCACTCTCTCTCTTGC CCGCCCTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCC GCCCTCTCTCTCTCTCTTGCCCACCCTCTCTCTCACCCGCCCTCTCTCTC GCCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTC GCCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTC TCACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTC TCACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCT CTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCC TCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCT CCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCC CCCTCCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCTCTCCCCCTCCTC CCCCTCCTCCCCCTCCTCCCCCTCCTCCCCCTCCTCCACCTCTCCCCCTC TCCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCCCCTCCCCTTCTC TCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTC CCCCTCTCCTTTTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCCTC CCCCTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCC CTTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTTGTCTCCCCCTCC CCTTCTCTCCCCCTCTCCCACTCTCTCCCTCCCCTTCTCTCCCCATCCCC TTCTCTCCCCATCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
RIN3_chr14_92508781_92693994	92547360	A A	AAATAAAT others(963): Show AAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTA TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAATCTTTATTTTATTATAAAATTATCTTTATTTTAT TATAAAATTATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAA ATTATCTTTATTTTATTATTATAAAATTATCTTTATTATAATAAAATAAA TTATCTTTATTTTATTATTAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0178 a0003c0003t0001g0178	1	334	0.0030	970	c.45- others(985): Show c.45-8364_45-8363insAAAATAAATTATCTTTATTTTATTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTAT TATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTT ATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATT TTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTA TTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATCTT TATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTATC TTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAATTA TCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAAAT TATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTAAAATAA ATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAAAT AAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATAAA ATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTATA AAATAAATTATCTTTATTTTATTATAAAATAAATTATCTTTATTTTATTA TAAAATAATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAAT TATCTTTATTTTATTATAAAATTATCTTTATTTTATTATAAAATTATCTT TATTTTATTATTATAAAATTATCTTTATTATAATAAAATAAATTATCTTT ATTTTATTATTATAATAAATTATCTTTATTTTATTATTAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
ROBO2_chr3_77035099_77654964	77322942	T T	TTACATTA others(963): Show TTACATTATATTATGGATAATATAATATATTACATTATATTATGGATAAT ATAATATATTACATTATATTATGGATAATATAATATATTACATTATATTA TGGATAATATAATATATTATATTATATTATGGATAATATAATATATTATA TTATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATAATATATTATATTATGGATAATATAATATATTATATTATA TTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATATT ATATTATATTATGGATAATCTAATATATTATATTATATTATGGATAATCT AATATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAA TATATTATATTATGGATAATCTAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATATTATATTATGGATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGATA ATATAATATATTATATTATGGATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATATTATATTATGGATAATATAATATATTAT ATTATGGATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0041 a0001c0001t0035g0041	1	160	0.0063	970	c.389 others(991): Show c.389-154470_389-154469insCATTATATTATGGATAATATAATA TATTACATTATATTATGGATAATATAATATATTACATTATATTATGGATA ATATAATATATTACATTATATTATGGATAATATAATATATTATATTATAT TATGGATAATATAATATATTATATTATATTATGGATAATATAATATATTA TATTATATTATGGATAATATAATATATTATATTATATTATGGATAATATA ATATATTATATTATATTATGGATAATATAATATAATATATTATATTATGG ATAATATAATATATTATATTATATTATGGATAATCTAATATATTATATTA TATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATA TTATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAAT ATATTATATTATGGATAATCTAATATATTATATTATGGATAATCTAATAT ATTATATTATGGATAATATAATATATTATATTATGGATAATATAATATAT TATATTATGGATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATATTATATTATGGATAATATAATATATTATATTATGGATAA TATATTATATTATGGATAATATAATATATTATATTATGGATAATATATTA TATTATGGATAATATATTATATTATGGATAATATAATATATTATATTATG GATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATA	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	340766	T T	TCCCACCC others(963): Show TCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCT CCCCACATCCAATCTCACTGCCCCGACCCAGGCCTCCCCACATCCACACT CACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGTCCCCCACC CAGGCTTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACA TCCACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACTGC CCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCC TCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACA CTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCA CCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCA CATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACT GCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCTCCCAGGC CTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCAC ACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCACTGCCCCCC ACCCAGGCCTCCCCACATCCACACTCACTGTCCCCCACCCAGGCTTCCCC ACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCAC TGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCC ACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCC CCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCC CCACATCCACACTCACTGCCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0099 a0001c0001t0017g0099	1	133	0.0075	970	c.-21 others(989): Show c.-212-6833_-212-6832insGGGCAGTGAGTGTGGATGTGGGGAGG CCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGC AGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATG TGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGG TGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAG TGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGA AGCCTGGGTGGGGGACAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGG GCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGA TGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTG GGAGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGA GTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGG AGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGG GGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGG ATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCT GGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGT GAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATGTGG GGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAAGCCTGGGTGG GGGACAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGT GGATGTGGGGAGGCCTGGGTCGGGGCAGTGAGATTGGATGTGGGGAGGCC TGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
SART1_chr11_65956734_65985137	65971393	T T	TGCTGAGG others(963): Show TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTC ATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGA GGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01433.hp1 HG00642.hp2 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0219 a0001c0002t0002g0220	2	384	0.0052	970	c.157 others(989): Show c.1572+3605_1572+3606insAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAG GGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGA GGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATGGTGGGAT TCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGA TTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCT GCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATGGT GGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SNRNP35_chr12_123453139_123471936	123453160	A A	ATATATAT others(963): Show ATATATATATAAATATATAAAAATATATATAAATATATATAAGTATATAT AAATATATATATAAATATATATAAATATATAAATATATATATAAATATAT ATAAATATATATAAATATATATAAATATATATAAATATATATATAAATAT ATATACATATATATAAATATATATAAATATATATAAATATATAAAAAATA TATAAATATATATAAATATATATAAATATAAATATATACAAATATATATA TAAATATGTATAAATATATAAAAATATATATATAAATATATAAAAATATA TATATAAATATATAAAAATATATAAAAATATATATATAAATATATATAAA TATATATATATAAAAATATATATAAAAATATATATAAATATATATATAAA TATATATAAATAGATATAAATATATATATAAATATATATAAATATATATA AATATATATATAAATATATATAAATATATATATAAATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATTTA AATATATATAAATATATATAAATATATATATAAATATATATATAAATATA TATAAATATATATATAAATATATATAAATATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATATATAAATATA TATAAATATATAAAAAATATATATAAATATATAAATATATAAAAATATAT ATATAAATATATATAAATATATATAAATATATAAAAATATATATAAATAT ATTTATATATTTAAATATATTTATATATATAAATATATAAAAATATATAT AAATATATATAAATATATAAAAATATATATATATAAATATATATATAAAT ATATATAAATATATTTTTATATATAAATATATTTATATATAAATATAAAT ATATATAAATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	186	0.0054	970	c.-50 others(981): Show c.-5060_-5059insTATATATATAAATATATAAAAATATATATAAATA TATATAAGTATATATAAATATATATATAAATATATATAAATATATAAATA TATATATAAATATATATAAATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATACATATATATAAATATATATAAATATATATA AATATATAAAAAATATATAAATATATATAAATATATATAAATATAAATAT ATACAAATATATATATAAATATGTATAAATATATAAAAATATATATATAA ATATATAAAAATATATATATAAATATATAAAAATATATAAAAATATATAT ATAAATATATATAAATATATATATATAAAAATATATATAAAAATATATAT AAATATATATATAAATATATATAAATAGATATAAATATATATATAAATAT ATATAAATATATATAAATATATATATAAATATATATAAATATATATATAA ATATATATAAATATATATAAATATATATAAATATATATATAAATATATAT ATAAATATATATTTAAATATATATAAATATATATAAATATATATATAAAT ATATATATAAATATATATAAATATATATATAAATATATATAAATATATAT ATAAATATATATAAATATATATATAAATATATATAAATATATATAAATAT ATATATATAAATATATATAAATATATAAAAAATATATATAAATATATAAA TATATAAAAATATATATATAAATATATATAAATATATATAAATATATAAA AATATATATAAATATATTTATATATTTAAATATATTTATATATATAAATA TATAAAAATATATATAAATATATATAAATATATAAAAATATATATATATA AATATATATATAAATATATATAAATATATTTTTATATATAAATATATTTA TATATAAATATAAATATATATAAATATATATATATT	SNRNP35	ENSG00000184209.15	transcript	ENST00000526639.3	protein_coding		4978		chr12	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(963): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCA CCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCATCCTA TCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCAT CCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCC ACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACA CCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCA CTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACT CACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACC CATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATC CACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACC CATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCCTATC TATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCCATCC TATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTATCC TATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACACACCC ACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATCCACC CACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACCCACA CTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACCCAGC CAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACCTATC CTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG03041.hp1 others(1): Show HG02109.hp2 HG02622.hp2 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0033	a0001c0001t0001g0157 a0001c0001t0002g0017 a0001c0001t0020g0032 others(1): Show a0001c0001t0001g0157 a0001c0001t0002g0017 a0001c0001t0020g0032 a0001c0001t0033g0034	4	258	0.0155	970	c.113 others(989): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCA CCCACCATCCACCATCCATCCACCCCCCCACCATCCCCCATCCTATCCAC CCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTAT CCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTA TCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCA CTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCA CCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACC CACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTAC CCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCAT CCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCAC ACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCAT CCATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCCAT CCACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGT CTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTAT CTATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCCTAT CTACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACCCAC CCTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTATTCA TCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCCTA TCTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(963): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCA CCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTA TCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCAT CCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCC ACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACA CCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCA CTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACT CACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACC CATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATC CACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACC CATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCCTATC TATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCCATCC TATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTATCC TATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACACACCC ACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATCCACC CACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACCCACA CTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACCCAGC CAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACCTATC CTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01243.hp2 HG02486.hp1 others(1): Show HG00140.hp1 HG01243.hp2 HG02486.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0034	a0001c0001t0001g0072 a0001c0001t0002g0164 a0001c0001t0003g0073 others(1): Show a0001c0001t0001g0072 a0001c0001t0002g0164 a0001c0001t0003g0073 a0001c0001t0034g0044	4	258	0.0155	970	c.113 others(989): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTAT CCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTA TCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCA CTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCA CCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACC CACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTAC CCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCAT CCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCAC ACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCAT CCATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCCAT CCACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGT CTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTAT CTATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCCTAT CTACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACCCAC CCTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTATTCA TCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCCTA TCTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(963): Show ACCATCCCCCATCGTATCCACCCCCCCACCATCCCCCATCCTATCCACCC ACCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCA CCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTA TCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCAT CCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCATCC ACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCACA CCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATCCA CTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTACT CACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCACC CATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCATC CACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCACC CATCCACCCACCCACCTATCCTATTCATCCATCCACCCACCCACCCTATC TATCCACCCACCCACCCACACTATCCATCCACCCACCCAACCACCCATCC TATTCATCCATCCATCCACCCACCCAGTCTATCCACCCACCCACCTATCC TATTCATCCATCCCCCCACCCACCCTATCTATCCACCCACCCACACACCC ACACTATCCACCCACCCACACACCCTATCTACCCACCCAATATATCCACC CACCCACCTACACCATCCACCCACCCACCCTATCTATCCACCCACCCACA CTATCCATCCACCCACCTATCCTATTCATCCATCCATCCACCTACCCAGC CAATTTATCCACCCACCCACCTACCCTATCTATCCACCCATCCACCTATC CTATTCATCCATCCACCCACC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	258	0.0039	970	c.113 others(989): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCCCCCA CCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCCC CCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTAT CCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATCCATCCTA TCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCCATCATCCA CTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCCATCATCCA CCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGCCATCCACC CACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACATCTACCTAC CCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCACCTACCCAT CCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCACCCACCCAC ACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATCCTATTCAT CCATCCACCCACCCACCCTATCTATCCACCCACCCACCCACACTATCCAT CCACCCACCCAACCACCCATCCTATTCATCCATCCATCCACCCACCCAGT CTATCCACCCACCCACCTATCCTATTCATCCATCCCCCCACCCACCCTAT CTATCCACCCACCCACACACCCACACTATCCACCCACCCACACACCCTAT CTACCCACCCAATATATCCACCCACCCACCTACACCATCCACCCACCCAC CCTATCTATCCACCCACCCACACTATCCATCCACCCACCTATCCTATTCA TCCATCCATCCACCTACCCAGCCAATTTATCCACCCACCCACCTACCCTA TCTATCCACCCATCCACCTATCCTATTCATCCATCCACCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(963): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TAATAATATAATATATATTATTATATGTTATTATATATAATAATATAATA TATATTATTATATGTTATTATATATAATAATATATATTATTATATGTTAT TATATATAATAATATATATTATTATATGTTATTATATATAATAATATATA TTATTATATGTTATTATATATAATAATATAATATATATTATTATATGTTA TTATATATAATAACATATTATATATTATGTTATTATATATAATAACATAA TATATATTATATGTTATTATATATAATAACATAATATATATTATTATATG TTATTATATATAATAACATAATATATATTATTATATGTTATTATATATAA TAACATAATATATATTATTATATGTTATTATATATAATAACATAATATAT ATTATTATATGTTATTATATATAATAACATAATATATATTATTATATGTT ATTATATATAATAATATAATATATATTATTATATGTTATTATATATAATA ATATAATATATATTATTATATGTTATTATATATAATAATATATATTATAT TATTATATGTTATTATATATAATAATATAATATATATTATTATATGTTAT TATATATAATATATATTATATTATATATAATAATATAATATATATTATAT TATTATATATAATAATATAATATATATTATTATATATTATATATTATTAT ATATAATATATATATAATTATATTATTATATATTATTATATATAATATAT ATAATTATATATATATTATATATATTATATATAATAATAATATATATAAT TATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0225 a0002c0003t0002g0225	1	238	0.0042	970	c.392 others(987): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATATAATTATATATATT ATATATAATAATATATAATAATATAATTATATATATATTATATATAATAA TATATAATATATAATAATATATATTATATTATTATATATAATAATATAAT ATATATTATATTATTATATATAATATAATATATATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATAAT ATATATTATTATATATAATAACATATAATAATATATATTATATTATTATA TATAATAACATATAATAATATATATTATATTATTATATATAATAACATAT AATAATATATATTATGTTATTATATATAATAACATATAATAATATATATT ATGTTATTATATATAATAACATATAATAATATATATTATGTTATTATATA TAATAACATATAATAATATATATTATGTTATTATATATAATAACATATAA TAATATATATTATGTTATTATATATAATAACATATAATATATATTATGTT ATTATATATAATAACATAATATATAATATGTTATTATATATAATAACATA TAATAATATATATTATATTATTATATATAATAACATATAATAATATATAT TATTATATATAATAACATATAATAATATATATTATTATATATAATAACAT ATAATAATATATATTATTATATATAATAACATATAATAATATATATTATA TTATTATATATAATAACATATAATAATATATATTATATTATTATATATAA TAACATATAATAATATATATTATATTATTATATATAATAACATATAATAA TATATATTATATTATTATATATAATAACATATAATAATATATATTATATT ATTATATATAATAACATATAATAATATATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ADAMTS16_chr5_5135330_5325304	5305033	C C	CCCACACC others(964): Show CCCACACCACACACACATCCCACACCAAACACACACACACATCCCACACC ACACACACACATCCCACACCACACACACACATCCACACCACACACACACA CATCCCACACCACACACACACAATCCCACACCACACACACAATCCCACAC CACACACACACACATCCCACACCACACACACACATCCCACACCACACACA CACACATCCCACACCACACACACACACACCCCACACCACACACACACATC CACACCACACACACACACATCCCACACCACACACAAATCCCACACCACAC ACACAATCCCACACCACACACACACACATCCCACACCACACACAACCCAC GCCACACACACACATCCCACACCCATCCCACGCCACACACATCCACACCA CACACACATCCCACACCACACACACACACACACACATCCCATACCACACA CACACATCCCACACCACACACATCCCACACCACACACACATCCCACACCA CACACACACATCCTACATCACACACACACATCCCACACCACACACACACA CTTCCCACACCACACACACACACACTTCCCACACCACACACTCACACATC CCACACCACACACATATCCCACACCACACACACATCCCACACCACACACA CACACCGCACACACACATACACCACACACACACATCCCACACCACACACA TACCACACCACACACACACAATCCCACACCACACACACACACATCCCACA CCACACACACACATCCCACACCACACACACACATCCCACACCACACACAC ATCCACACCACACACACACACATCCCACACCACACACATCCACACCACAC ACACACATCCCACACCACACACACACATCCCACACACACATCCCACAACA CACACACACATCCCACACACACATCCCACAACACACACACACATCCCACA CCACACACATCCACACCACACA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0016 a0003c0016	a0003c0016t0001 a0003c0016t0001	a0003c0016t0001g0244 a0003c0016t0001g0244	1	332	0.0030	971	c.318 others(990): Show c.3186+1268_3186+1269insCACACCACACACACATCCCACACCAA ACACACACACACATCCCACACCACACACACACATCCCACACCACACACAC ACATCCACACCACACACACACACATCCCACACCACACACACACAATCCCA CACCACACACACAATCCCACACCACACACACACACATCCCACACCACACA CACACATCCCACACCACACACACACACATCCCACACCACACACACACACA CCCCACACCACACACACACATCCACACCACACACACACACATCCCACACC ACACACAAATCCCACACCACACACACAATCCCACACCACACACACACACA TCCCACACCACACACAACCCACGCCACACACACACATCCCACACCCATCC CACGCCACACACATCCACACCACACACACATCCCACACCACACACACACA CACACACATCCCATACCACACACACACATCCCACACCACACACATCCCAC ACCACACACACATCCCACACCACACACACACATCCTACATCACACACACA CATCCCACACCACACACACACACTTCCCACACCACACACACACACACTTC CCACACCACACACTCACACATCCCACACCACACACATATCCCACACCACA CACACATCCCACACCACACACACACACCGCACACACACATACACCACACA CACACATCCCACACCACACACATACCACACCACACACACACAATCCCACA CCACACACACACACATCCCACACCACACACACACATCCCACACCACACAC ACACATCCCACACCACACACACATCCACACCACACACACACACATCCCAC ACCACACACATCCACACCACACACACACATCCCACACCACACACACACAT CCCACACACACATCCCACAACACACACACACATCCCACACACACATCCCA CAACACACACACACATCCCACACCACACACATCCACACCACACAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADGRE2_chr19_14727392_14783560	14763755	C C	CCTCTCCT others(964): Show CCTCTCCTCCTCCTCCTCTTGTCCACCACCTCCTCCTCTCCTCCTCCTCT TCTGCTCCTCTTCCTCCTCTCCTCCTCCTCTCCACCTCCTCCCCCCTTCT CCTCCTCCCCCTCCTCCTCCCCTCTCCTCCTCCCCCTCTCCTCCTCCCCT CTCCTCCTCCCCCCTCCTCCTCCCCCTCTCCTCCTCCCCCTCTCCTCCTT CCCCTCTCCTCCTCCCCCATCCTCCTCCCCCTCTCCTCCTCCCCTCCCCT CCTCCCCCTCCTCCTCCCCCTCCTCCTCCTCTCCTCCTCCTCCTCTCCTC CTCCTCCTCTCCTCCTCCTCTTTTCCTCCTCTCCTCCTCTCCTCTTCCTC TCCTTCTCCTCCCCTCATCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTT CTCTCCTCTTCCTGCTCCTCTCGTCCTCCTCTCCTCCTCCTCTCCTCTTC CTCTCCTGCCCCTCCTCCTCTCCTGCCCTCCTCCTCTCCTCCCCCTCCTC CTCTCCTCCCCCTCCTCCTCTCCTCCCCCTCCTCCTCTCCTCCCCTTCCT CCTCCTCTTCTCCTCCTCCTCTCCTCTTCCTCTCCTCCTCCTCTCTTCTC CTCTCCTCCTCCTCCTCTTCTTTTCCTCTCCTCCTCCTCTCTTCCTTCTC TCCTCCTCTCCTCTTCCTCTCTTCTCCTCTCCTCCTCCTCTCTCCTCTCC TCCTCCTCTCCTCTTTTCCTCATCCTCTCCTCCTTCTCCTCTCCTCTGCC TCCTCCTCTCCTCCTCCTGTCTCCTCCTCCTACCCTCCTCCTTCCCTCTT CCTCCTCTCCTCCTCCTCTTCTTTTCCTCCTCTCCTCCTTCTTGTCTCCT CCCCGTCCTCTTCTCCTTCCCTCTTCCTCCTCCACTCCTCCTCCTCTCCT CCTTCTCCTCCTCCTCCTCTCCTCCTTCTTCTCTCCTCCTCCACTCCTCC TCTTCCTCCTCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0020 a0020	a0020c0048 a0020c0048	a0020c0048t0002 a0020c0048t0002	a0020c0048t0002g0015 a0020c0048t0002g0015	1	218	0.0046	971	c.108 others(988): Show c.1084+677_1084+678insAAGGAGGAGGAGAGGAGGAAGAGGAGGA GTGGAGGAGGAGAGAAGAAGGAGGAGAGGAGGAGGAGGAGAAGGAGGAGA GGAGGAGGAGTGGAGGAGGAAGAGGGAAGGAGAAGAGGACGGGGAGGAGA CAAGAAGGAGGAGAGGAGGAAAAGAAGAGGAGGAGGAGAGGAGGAAGAGG GAAGGAGGAGGGTAGGAGGAGGAGACAGGAGGAGGAGAGGAGGAGGCAGA GGAGAGGAGAAGGAGGAGAGGATGAGGAAAAGAGGAGAGGAGGAGGAGAG GAGAGAGGAGGAGGAGAGGAGAAGAGAGGAAGAGGAGAGGAGGAGAGAAG GAAGAGAGGAGGAGGAGAGGAAAAGAAGAGGAGGAGGAGGAGAGGAGAAG AGAGGAGGAGGAGAGGAAGAGGAGAGGAGGAGGAGAAGAGGAGGAGGAAG GGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAGGGGGAGGAGAGGAGGAG GGGGAGGAGAGGAGGAGGGCAGGAGAGGAGGAGGGGCAGGAGAGGAAGAG GAGAGGAGGAGGAGAGGAGGACGAGAGGAGCAGGAAGAGGAGAGAAGGAG GAGGAGAGGAGGACGAGAGGAGCAGGATGAGGGGAGGAGAAGGAGAGGAA GAGGAGAGGAGGAGAGGAGGAAAAGAGGAGGAGGAGAGGAGGAGGAGGAG AGGAGGAGGAGGAGAGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGGGA GGGGAGGAGGAGAGGGGGAGGAGGATGGGGGAGGAGGAGAGGGGAAGGAG GAGAGGGGGAGGAGGAGAGGGGGAGGAGGAGGGGGGAGGAGGAGAGGGGA GGAGGAGAGGGGGAGGAGGAGAGGGGAGGAGGAGGGGGAGGAGGAGAAGG GGGGAGGAGGTGGAGAGGAGGAGGAGAGGAGGAAGAGGAGCAGAAGAGGA GGAGGAGAGGAGGAGGTGGTGGACAAGAGGAGGAGGAGGAGAG	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	11/20			chr19	TogoVar
ADPRHL1_chr13_113394611_113458488	113419038	C C	CCCCTTCC others(964): Show CCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTC CCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCT TCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTT CCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCT TCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCT TCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTC CCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTC CTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTTCTTCCCCTTCCCCT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0044 a0002c0001t0001g0044	1	262	0.0038	971	c.106 others(990): Show c.1061+3787_1061+3788insAGGGGAAGGGGAAGAAAGGAAGGAAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAAGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAG GGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGA AGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGG GAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGG AAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAG GGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAG GGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAA AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGA AGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAG AAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAA GAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ARHGAP39_chr8_144524179_144690846	144531191	A A	AGAGCAGC others(964): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAAGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGA CATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAG TGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAG CAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGC AGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA AGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG AAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0005 a0001c0003t0001g0005	1	246	0.0041	971	c.298 others(988): Show c.2981-321_2981-320insGCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCC TGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTG CCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGC CGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTG CCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGC TGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTT GCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCC ACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGC CCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTA GCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTC TAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCTTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGC CGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCT GCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	10/11			chr8	TogoVar
C15orf40_chr15_82989817_83016639	82991506	C C	CTGCACTC others(964): Show CTGCACTCCAGCCTGGGCAACAGAGCAAGACTTCATCTCAAAAAAAAAAC GGGGGCATCTTCGTAAACCTATTTTTAATGCCTTCTCTCTTAGCACCCCA CTCTAGGCCCTCGAGGTTGACTTCTCCAGGTACTTCATGCTCTCCATCTA CCTCTCCCTTTTATTCTCCCTTCCTGAAGAGCCATCCTCTCGGGTAACTG TTTTATTGGAAATGACCTAATAAGTCGGGCAGTCACACTAAGATGCAAAT ACAATTTTAATAGTAAGGGTTTTCCCTGTAACCTCCCTAATTACATCAGT AGGCAAGAAGCCAGTGCTGTTATATAAAGATAGGATTTGATACTACAGAT ATTTAGTCTAGATAGTAATGTCCTGACTACACCCCAGAATCTTCTCTGAA AGCAGAAGTGTTATCAAAAATATCACCTGGTTGGGTATGGTGGCTCACAC CTGTTATCCCAGCACTCTGGGAGGCCGAGGCGGGAAGATCACTTGAAGCC AGGAGTTCGAGGCCAGCCTGGGCAATGTAGCAAGATCCTGTCTCTACAGA AAATTTTAAAATTAGCTGGGTGTGGTGGTGCACGCCTGTAGTCCTAGCTA CTCAGGAGGCTGAGGCAGGAGGCTCCCTTGAGTCCGGGAAGAGTTCAAGA CTACAGTGAGCTAGGATCATGGCACTGTACTCCAGTTTGGGCTAGATAGA TGCTGTCTCTTAAAAGTAATGATTTATAGGCTGGGCACGGTGGCTCACAG TTGTAATCGCAGCACTTTGGGGGGCTGAGATGGGCAGATCACCCCAGGTG AGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAATCCTGTCTCTATTAA AAATACGAAAATTAGCCAGGCATGGTGGCGGATGCCTGTAATCCCAGTTA CTCGGGAGACTGAGTTAAGAGAATCACTTGAACCTGGGAGGTGGAGGTGG CAGTGACCTGAGACCATGCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01433.hp1 HG01175.hp1 HG01433.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0043 a0003c0003t0043	a0003c0003t0043g0054 a0003c0003t0043g0054	2	406	0.0049	971	c.14 others(984): Show c.14090_*14091insATGGCATGGTCTCAGGTCACTGCCACCTCCAC CTCCCAGGTTCAAGTGATTCTCTTAACTCAGTCTCCCGAGTAACTGGGAT TACAGGCATCCGCCACCATGCCTGGCTAATTTTCGTATTTTTAATAGAGA CAGGATTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTCACCTGGGGT GATCTGCCCATCTCAGCCCCCCAAAGTGCTGCGATTACAACTGTGAGCCA CCGTGCCCAGCCTATAAATCATTACTTTTAAGAGACAGCATCTATCTAGC CCAAACTGGAGTACAGTGCCATGATCCTAGCTCACTGTAGTCTTGAACTC TTCCCGGACTCAAGGGAGCCTCCTGCCTCAGCCTCCTGAGTAGCTAGGAC TACAGGCGTGCACCACCACACCCAGCTAATTTTAAAATTTTCTGTAGAGA CAGGATCTTGCTACATTGCCCAGGCTGGCCTCGAACTCCTGGCTTCAAGT GATCTTCCCGCCTCGGCCTCCCAGAGTGCTGGGATAACAGGTGTGAGCCA CCATACCCAACCAGGTGATATTTTTGATAACACTTCTGCTTTCAGAGAAG ATTCTGGGGTGTAGTCAGGACATTACTATCTAGACTAAATATCTGTAGTA TCAAATCCTATCTTTATATAACAGCACTGGCTTCTTGCCTACTGATGTAA TTAGGGAGGTTACAGGGAAAACCCTTACTATTAAAATTGTATTTGCATCT TAGTGTGACTGCCCGACTTATTAGGTCATTTCCAATAAAACAGTTACCCG AGAGGATGGCTCTTCAGGAAGGGAGAATAAAAGGGAGAGGTAGATGGAGA GCATGAAGTACCTGGAGAAGTCAACCTCGAGGGCCTAGAGTGGGGTGCTA AGAGAGAAGGCATTAAAAATAGGTTTACGAAGATGCCCCCGTTTTTTTTT TGAGATGAAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCA	C15orf40	ENSG00000169609.14	transcript	ENST00000304177.10	protein_coding		3310		chr15	TogoVar
C7orf50_chr7_992006_1143247	1003268	C C	CGGGTGAG others(964): Show CGGGTGAGTGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGAGTGGAGT CCTGTGGGTGGGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGT CCTGTGGGTGAGTGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGA GTCCTGCGGGTGGGGAGTCCTGAGGGTGAGTGGAGTCCTGTGGGTGAGTG GAGTCCTGTGGGTGGGGAGTCCTGTGGGTGGGGAGTCCTTGGGTGAGTGG AGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGGGG AGTCCTGTGGGTGAGTGGAGTCCTGCGGGTGGGGAGTCCTGTGGGTGAGT GGAGTCCTGCGGGTGGGGAGTCCTGTGGGTGAGTAGAGTCCTGTGGGTGG GGAGTCCTGTGGGTGAGTGGAGTCCTGCGGGTGGGGAGTCCTGTGGGTGA GTGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGGGGAGTCCTTGGGTG AGTGGAGTCCTGTGGGTTTGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTG AGTGGAGTCCTGCGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGG TGGGGAGTCCTTGGGTGAGTGGAGTCCTGTGGGTTTGGAGTCCTGTGGGT AGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGAGTGGAGTCCTGTGG GTGAGTGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGC GGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGCGGGTGGGGAGTCCTGT GGGTGAGTGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGGGGAGTCCT GTGGGTGAGTGGAGTCCTGTGGGTGGGGAGTCCTGTGGGTGAGTGGAGTC CTGCGGGTGGGGAGTCCTGTGGGTGAGTGGAGTCCTGTGGGTGAGTGGAG TCCTGTGGGTGGGGAGTCCTGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0263 a0001c0001t0003g0263	1	326	0.0031	971	c.324 others(988): Show c.324-2718_324-2717insACAGGACTCCCCACCCACAGGACTCCAC TCACCCACAGGACTCCACTCACCCACAGGACTCCCCACCCGCAGGACTCC ACTCACCCACAGGACTCCCCACCCACAGGACTCCACTCACCCACAGGACT CCCCACCCACAGGACTCCACTCACCCACAGGACTCCACTCACCCACAGGA CTCCCCACCCGCAGGACTCCACTCACCCACAGGACTCCCCACCCGCAGGA CTCCACTCACCCACAGGACTCCCCACCCACAGGACTCCACTCACCCACAG GACTCCACTCACCCACAGGACTCCACTCACCCACAGGACTCCCTACCCAC AGGACTCCAAACCCACAGGACTCCACTCACCCAAGGACTCCCCACCCACA GGACTCCACTCACCCACAGGACTCCCCACCCGCAGGACTCCACTCACCCA CAGGACTCCCCACCCACAGGACTCCAAACCCACAGGACTCCACTCACCCA AGGACTCCCCACCCACAGGACTCCACTCACCCACAGGACTCCACTCACCC ACAGGACTCCCCACCCGCAGGACTCCACTCACCCACAGGACTCCCCACCC ACAGGACTCTACTCACCCACAGGACTCCCCACCCGCAGGACTCCACTCAC CCACAGGACTCCCCACCCGCAGGACTCCACTCACCCACAGGACTCCCCAC CCACAGGACTCCCCACCCACAGGACTCCACTCACCCACAGGACTCCACTC ACCCAAGGACTCCCCACCCACAGGACTCCCCACCCACAGGACTCCACTCA CCCACAGGACTCCACTCACCCTCAGGACTCCCCACCCGCAGGACTCCACT CACCCACAGGACTCCCCACCCACAGGACTCCACTCACCCACAGGACTCCA CTCACCCACAGGACTCCCCACCCACAGGACTCCCCACCCACAGGACTCCA CTCACCCACAGGACTCCACTCACCCACAGGACTCCACTCACCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
C8orf82_chr8_144520733_144534111	144531191	A A	AGAGCAGC others(964): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAAGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGA CATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAG TGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCA GGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGCAG CAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCAGCAAGC AGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGG GCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA AGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG AAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGC AGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACG GCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCA CGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	398	0.0025	971	c.-22 others(982): Show c.-2276_-2275insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCT ATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCC TGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTC TGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCT TCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCC CTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTG CCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGC TGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTC CCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCAC TCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGC CCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTA GCCCACTCCCCACCTGCTGCTTGCTGCCTTTCTGCCGTGCCTGCTATGTC TAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCC TGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTG CCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCG TGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2081		chr8	TogoVar
CFAP61_chr20_20047532_20365698	20320483	A A	ATATTATA others(964): Show ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATATTATATATGCAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATTATATA TTACATATGTAATATATATTATATATTACATATGTAATATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATATTATATATTACATATGTAATATAT ATATTATATATTACATATGTAATATATATTACATATGTAATATATATTAT ATATGTAATATATATTACATATATTACATATGTAATATATATTATATATG TAATATATAATATATATTATATATGTAATATATAATATATATTATATATG TAATATATATTACATATGTAATATATATTATATATGTAATATATAATATA TATTACATATGTAATATATATTATATATGTAATATATATTATATATGTAA TATATATTATATATGTAATATATAATATATATTATATATGTAATATATAT TATATATGTAATATATATTATATATGTAATATATTACATATATAATATAT ATTACATATATAATATATATTATATATGTAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATAATATATATTATATATGTAAT ATATAATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATATTATATATGTAATATATATTATATATTATATATG TAATATATATTATATATGTAATATATGTAATATATATTATATATGTAATA TATGTAATATATATTATATATG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	236	0.0042	971	c.342 others(992): Show c.3423-21346_3423-21345insTTATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATATT ATATATGCAATATATATTATATATTACATATGTAATATATATTATATATT ACATATGTAATATATATTATATATTACATATGTAATATATATTATATATT ACATATGTAATATATATATTATATATTACATATGTAATATATATATTATA TATTACATATGTAATATATATATTATATATTACATATGTAATATATATAT TATATATTACATATGTAATATATATATTATATATTACATATGTAATATAT ATTACATATGTAATATATATTATATATGTAATATATATTACATATATTAC ATATGTAATATATATTATATATGTAATATATAATATATATTATATATGTA ATATATAATATATATTATATATGTAATATATATTACATATGTAATATATA TTATATATGTAATATATAATATATATTACATATGTAATATATATTATATA TGTAATATATATTATATATGTAATATATATTATATATGTAATATATAATA TATATTATATATGTAATATATATTATATATGTAATATATATTATATATGT AATATATTACATATATAATATATATTACATATATAATATATATTATATAT GTAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATAATATATATTATATATGTAATATATAATATATATTATATATGTAATAT ATATTATATATATTATATATGTAATATATATTATATATATTATATATGTA ATATATATTATATATTATATATGTAATATATATTATATATGTAATATATG TAATATATATTATATATGTAATATATGTAATATATATTATATATGTA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CMIP_chr16_81439808_81716762	81577154	C C	CATTACCA others(964): Show CATTACCACTACATTATTATCACTATCACCATCACCATCATCACCATCAT AACCATCACCTTTATCACCACCATCATCCCCATTACCACTACATTATTAT CACTATCACCATCACCACCATCATCACCATCACCTTCATCACCACCATCA TCCCCATTACCACTACATTATTATCACTATCACCATCACCATCATCACCA TCACCACCATCATAACCATCACCTTCATCACCACCATCATCCCCATTACC ACTACATTATTATCACTATCACCATCACCATCATCACCATCACCTTCATC ACCACCATCATCCCCATTACAACTATATTATTATCACTATCACCATCATC ACCATCACCTTCATCACCACCATCATCCCCATTACCACTACATTATTATC ACTATCACCATCACCACCATCATCACCATCACCTTCATCACCACCATCAT CCCCATTACCACTACATTATTATCACTATCACCATCACCATCATCACCAT CACCTTCATCATCACCGTCATCCCCATTACCACTACGCTATTATCACTAT CACCATCACCATCATCACCATCACCTTCATCATCACCATCATCCCCATTA CCACTACGCTATTATCACTGTCACCATCACCATCATCACCATCACCTTCA TCATCACCATCATCCCCATTACCACTACGCTATTATCACTGTCACCATCA CCATCATCACCATCACCTTCATCACCACCATCATCCCCATTACCACTACA TTATTATCACTATCACCATCACCACCATCATCACCATCACCTTCATCACC ACCATCATCCCCATTACCACTACATTATTATCACTATCACCATCACCATC ATCACCATCACCACCATCATAACCATCACCTTCATCACCACCATCATCCC CATTACCACTACATTATTATCACTATCACCATCACCATCATCACCATCAC CTTCATCACCACCATCATCCCA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	268	0.0037	971	c.301 others(990): Show c.301-30130_301-30129insCACCATCACCTTCATCACCACCATCA TCCCCATTACAACTATATTATTATCACTATCACCATCATCACCATCACCT TCATCACCACCATCATCCCCATTACCACTACATTATTATCACTATCACCA TCACCACCATCATCACCATCACCTTCATCACCACCATCATCCCCATTACC ACTACATTATTATCACTATCACCATCACCATCATCACCATCACCTTCATC ATCACCGTCATCCCCATTACCACTACGCTATTATCACTATCACCATCACC ATCATCACCATCACCTTCATCATCACCATCATCCCCATTACCACTACGCT ATTATCACTGTCACCATCACCATCATCACCATCACCTTCATCATCACCAT CATCCCCATTACCACTACGCTATTATCACTGTCACCATCACCATCATCAC CATCACCTTCATCACCACCATCATCCCCATTACCACTACATTATTATCAC TATCACCATCACCACCATCATCACCATCACCTTCATCACCACCATCATCC CCATTACCACTACATTATTATCACTATCACCATCACCATCATCACCATCA CCACCATCATAACCATCACCTTCATCACCACCATCATCCCCATTACCACT ACATTATTATCACTATCACCATCACCATCATCACCATCACCTTCATCACC ACCATCATCCCAATTACCACTACATTATTATCACTATCACCATCACCATC ATCACCATCATAACCATCACCTTTATCACCACCATCATCCCCATTACCAC TACATTATTATCACTATCACCATCACCACCATCATCACCATCACCTTCAT CACCACCATCATCCCCATTACCACTACATTATTATCACTATCACCATCAC CATCATCACCATCACCACCATCATAACCATCACCTTCATCACCACCATCA TCCCCATTACCACTACATTATTATCACTATCACCATCACCATCAT	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(964): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCT CCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCT CCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCC TCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTC CCCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCT CCCCCTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCC CCTTCCTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTC CTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0059 a0002c0004t0059	a0002c0004t0059g0217 a0002c0004t0059g0217	1	270	0.0037	971	c.162 others(992): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCT CCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCCCCCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTT CCTCCCCCTCCCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTCC TCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCAC TTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCTT CCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(964): Show TCTCTCCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCT CTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCC CTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTC TCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCC CTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCC CTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCACGTCCTCTCTC TCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCT CCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTC TCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTC CCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTC TCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTC CCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCCTCTC TCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCATCTCC CTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCC CCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCCTCCCCCTCTCCTCCTCT CCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCT CCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCC TCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	320	0.0031	971	c.380 others(988): Show c.380-7767_380-7766insCCCCCCTCTCTCCCTCTCCCTCACCTCC TCTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCC TCTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCC ATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCC CCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCAC ATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCC CTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCC CCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCC CTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCT CCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCG TCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGT CCCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTC CCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCC TCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCC CCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCT CTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTC TCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCCTC CCCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCT CCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCT CTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(964): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCACGTCCTCTCTCT CTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTC CTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCC CCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCC CCCTCCTCCTCTCCCTCTCCCCCCTCCCCCTCTTCCCCTCTCCCCCTCTC TCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCCCCTCTCCCCATCTCC CTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCC CCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCCTCCCCCTCTCCTCCTCT CCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCT CCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCC TCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0106 a0001c0001t0019g0106	1	320	0.0031	971	c.380 others(988): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCC CCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCC TCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTC CCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGT CCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTC CCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCCTCCCCCTCTTC CCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCC TCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTCC CCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCT CTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTC TCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCCTC CCCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCT CCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCT CTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(964): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCCCTCCC TCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCT CTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCC TGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCC TCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCACGTCCTCTCTCT CTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTC CTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCC CCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCC CCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCCCCTCTCCCCCTCTCT CCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTC TCTCCCTCTTCCCCTCTCCCCCCTCTCCCTCTTCCCCTCTCCCCATCTCC CTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCC CCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCCCCCTCTCCTCCTCTC CCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTC CCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCC TCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	320	0.0031	971	c.380 others(988): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCA TCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCC CTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACA TCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCC TCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCC CCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCC TCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTC CCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGT CCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTC CCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTTCC CCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCCTCTCCCTCTCTCCCT CTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCCTCTCCCTCTTCC CCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCT CTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTC TCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCCTCC CCCTCTCCTCCTCTCCCTCTCTCCGTCCCCCCTCCTCCTCTCCCTCTCTC CCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTC TCCCTCTCTCCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(964): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCTCTCCC CTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCT CTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCTC CCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCTCTCCC CCTCTCCCTCTCCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTC TCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCT CCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTC TCTCCCCCCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCC CCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCC CCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCT CCCTCTCCCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCC CTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCC CCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCC CTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCT CCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCC TCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0015 a0008c0011t0015	a0008c0011t0015g0213 a0008c0011t0015g0213	1	320	0.0031	971	c.380 others(988): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCC TCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCC CTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCCTCCCTCTCTCCCTCTCC CTCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCC CCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCC CTCACGTCCTCTCTCTCTCCCCCCTCCCCCTTTCTTCCTCTCCCCCTCTC CCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGT CCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTC CCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTC CCTCTCCCCCTCTCTCCCTCTCCCCCTCTCCCCCTCTCTCCCTCTCTCCC TCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTC CCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCT CTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTC TCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCC CCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCT CCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCT CTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(964): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCTCTCCC CTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCT CTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCTC CCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCTCTCCC CCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTC CTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCC CCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCC CCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCT CCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCC CTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCC CCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCC CTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCT CCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCC TCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02809.hp2 HG02886.hp1 others(2): Show HG02647.hp2 HG02809.hp2 HG02886.hp1 HG03209.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0020	a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0005g0023 others(2): Show a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0005g0023 a0001c0001t0008g0021 a0001c0001t0020g0024	5	320	0.0156	971	c.380 others(988): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCC TCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCC CTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCC TCACGTCCTCTCTCTCTCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCC CCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCC TCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTC CCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGT CCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTC CCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTC CCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCC TCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTC CCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCT CTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTC TCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCC CCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCT CCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCT CTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCCC others(964): Show TCTCTCCCCCCCTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCCCTC TCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCTCCCTCTCCC CTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCCTCCCCCTCTCTCCCT CTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCCCTCTCCCCCTGTCTC CCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCTCTCCCCCTCTCCC CCTCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCTCACGTCCTCTCTCTC TCCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCCCCTCTCCCCCTCCTC CTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCACGTCCTCTCTCT CTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCTCTCTACCTCTCC CCCTCTACCTCTCCCCGTCTCCCTCTCTCCCTCGTCCTCTCGTCCTCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCTCTCTCCCTCTCC CCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTCCCTCTCCCCCTCTCT CCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCTCCCCATCTCC CTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCCTCTCCCTCCC CCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATC TCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCC CTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCT CCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCC TCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0154 a0001c0001t0004g0154	1	320	0.0031	971	c.380 others(988): Show c.380-7767_380-7766insCCCCCTCTCTCCCTCTCCCTCACCTCCT CTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCT CTCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCATCCCCC TCCCCCTCTCTCCCTCTCTCCTCCTCCCCCTCTCCCCCCTCCCCCTTCCC CTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCT CTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCTCCCTCTCTCCCTCTCCCT CACGTCCTCTCTCTCTCCCCCCCTCCCCCTCCCTCTCCCCTTCCTCTCCC CCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCC TCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTC CCTCTCTACCTCTCCCCCTCTACCTCTCCCCGTCTCCCTCTCTCCCTCGT CCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTC CCTCTCTCCCTCTCCCCCTCCTCCTCTCCCTCTCCCCCTCCCCCTCTCTC CCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCC TCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTC CCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCT CTCCCTCTCCCTCCCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTC TCCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCC CCTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCT CCCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCT CTCCCTCTCTCCCCCTCCCCCTCCCTCTCCCCCTCCCCTCTCC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNST_chr1_246561456_246673595	246613656	T T	TCTCTCTC others(964): Show TCTCTCTCCCCCCCTTCTCTCCCTCTCCCTCACCTCCTCTCTCTCTCCCC CTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCTCCCTCTCCCCTCCCCC CTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCTCCCCCCATCCCCCTCC CCCTCTCTCCCTCTCTCCTCCTCCCCCCTCTCCCCCCTCCCCCTTCCCCT CTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCTCCCTCACATCCTCTCT CTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCTCTCCCTC ACGTCCTCTCTCTCTCCCCCCTCCCCTCCCTCTCCCCTTCCTCTCCCCCT CTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTCTAATCCCTCTCCCTCA CGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTCCTCTCCCCCTCTCCCT CTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCCCTCTCTCCCTCGTCCT CTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCTCCTGTCCCT CTCTCCCTCTCCCCTCCTCCTCTCCCTCTCCCCTCCCCCTCTCTCCCTCT CCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTGCCTCTCC TCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCTCTCCCTCTTTCCCTCT CCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCCACCCTCTTCCTCTCCC TCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTC CCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCTCCTCTCCCT CTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTCCCTCTTCCCCATCTCC CCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTCTCCCTCTCTCCCCCCT CCCCCCTCCCTCTCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	320	0.0031	971	c.380 others(988): Show c.380-7768_380-7767insTCCCCCCCTTCTCTCCCTCTCCCTCACC TCCTCTCTCTCTCCCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCTCT CCCTCTCCCCTCCCCCCTCCCTCTCCCCTCTCCCTCTCCCCTCTCCCTCT CCCCCCATCCCCCTCCCCCTCTCTCCCTCTCTCCTCCTCCCCCCTCTCCC CCCTCCCCCTTCCCCTCTCCCCCTGTCTCCCCCTCTCCTTCTCTCCCTCT CCCTCACATCCTCTCTCTCCCCCTCTCCCCCTCTCCCTCTCCCCCCTCCC TCTCTCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCCTCCCCTCCCTCTC CCCTTCCTCTCCCCCTCTCCCCCTCCTCCTCCCCCTCTCCCTCTCTCCTC TAATCCCTCTCCCTCACGTCCTCTCTCTCTCCCCCTCTCCCCCTTTCTTC CTCTCCCCCTCTCCCTCTCTACCTCTCCCCCTCTCCCTCTCCCCGTCTCC CTCTCTCCCTCGTCCTCTCGTCCTCTCTCTCTCCCCCTCTCCCCCTCTCC CTCTCCTCCTGTCCCTCTCTCCCTCTCCCCTCCTCCTCTCCCTCTCCCCT CCCCCTCTCTCCCTCTCCCCCTCTCTCCCTCTCTCCCTCTCCCCCTCTCT CCCTCTCTGCCTCTCCTCCTCTCCCTCTCTCCCTCTTCCCCTCTCCCCCT CTCCCTCTTTCCCTCTCCCCATCTCCCTCTCCCCCCCTTCTCCCTCTCCC ACCCTCTTCCTCTCCCTCTCCCTTCTCTCCCTCTCCTCCTCTCCCTCTCT CCCTCTTCCCCATCTCCCCCTCTTCTCCTCTCCCCCTCTCCCCCCTCCCC CTCTCCTCCTCTCCCTCTCTCCCTGTCCCCCCTCCTCCTCTCCCTCTCTC CCTCTTCCCCATCTCCCCCCTTCTCCTCTCCCCCTCTCCCCCTCCCTCTC TCCCTCTCTCCCCCCTCCCCCCTCCCTCTCCCCCTCCCCTCTC	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
COL5A1_chr9_134636803_134849843	134657102	G G	GGGGGTGC others(964): Show GGGGGTGCAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTA TAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGG TGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCG GTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAC AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGATGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGTAGCTTATAGATAAT ATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGGGGCGG GGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAGTTTATAG GTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATGGGGGG CGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAGGGGGT GTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTATAGATA ATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGGCAGGG CAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTGTAGTT TATAGATAATATGGGGGCAGGGTAGGGGGTGTAGTTTATAGATAATATGG GGGTTGGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGCAGGGTAGGG GGTGTAGTTTATAGATAATATAGGGGTCGGGGCAGGGGGTGCAATTTATA GATAATACAGGGGTGGGGTAGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0200 a0001c0007t0015g0200	1	272	0.0037	971	c.109 others(990): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTACAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGGGATGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGTAGCTTATAG ATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGGAGGCGG GGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGTGTAGTT TATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGATAATATG GGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCGGGGTAG GGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCAATTTAT AGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATATGGGGGG CAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAGGGGGTG TAGTTTATAGATAATATGGGGGCAGGGTAGGGGGTGTAGTTTATAGATAA TATGGGGGTTGGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGCAGGG TAGGGGGTGTAGTTTATAGATAATATAGGGGTCGGGGCAGGGGGTGCAAT TTATAGATAATACAGGGGTGGGGTAGAGGGGTGCAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar

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