Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RSRC1_chr3_158105089_158550730	158228874	A A	AACACACA others(609): Show AACACACATACGTGTATATATGTATATAAACACACATACGTGTATATGTT TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTG TATATGTGTATATAAAC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	158	0.0063	616	c.494 others(635): Show c.494+25634_494+25635insCATACGTGTATATATGTATATAAACA CACATACGTGTATATGTTTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTG TATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACACA TACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAA CACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTA TATAAACACACATACGTGTATATGTGTATATAAACACACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(609): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTAT ATATATATATATATATATATATATATATATATATATAATTTTACAACTAA CATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	121	0.0083	616	c.59- others(633): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATATATACACACACA CACACACACACACATATACATACACATATATATGTGTGTATATATACATG TATATATATGTATGTATATATGTGTATATATACATGTATATATGTATGTA TATATACGTGTATATTATGTATATATATACACATGATATATATGTATGTA TATATCATGTATATATATACATATATGTGTATATATACACGATATATATG TGTATATATCATGTATATATATACATGTATACAATATATTATATATACAT ATATATTATATACATGTATATATACCTGTATACAATATATTATATATACG TGTATATAATATATATACACGTATATATATTGTATACACGTATATATAAT ATATACTTTATATATAATATATACATGTATATATATACTATATATTATAT ATTAATATATACATGTATAATATATACATGTATATATTATATATACATAT ATATGTATATATAATATATACATATATGTACATATAATATACATGTCTAT ATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(609): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATAATTTTACAACTAA CATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	121	0.0083	616	c.59- others(633): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATACACACACACACA CACACACACACACATATACATACACATATATATGTGTGTATATATACATG TATATATATGTATGTATATATGTGTATATATACATGTATATATGTATGTA TATATACGTGTATATTATGTATATATATACACATGATATATATGTATGTA TATATCATGTATATATATACATATATGTGTATATATACACGATATATATG TGTATATATCATGTATATATATACATGTATACAATATATTATATATACAT ATATATTATATACATGTATATATACCTGTATACAATATATTATATATACG TGTATATAATATATATACACGTATATATATTGTATACACGTATATATAAT ATATACTTTATATATAATATATACATGTATATATATACTATATATTATAT ATTAATATATACATGTATAATATATACATGTATATATTATATATACATAT ATATGTATATATAATATATACATATATGTACATATAATATACATGTCTAT ATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(609): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATATCG TGTATATATACACATATATGTATATATATACATGATATATACATACATAT ATATCATGTGTATATATATACATAATATACACGTATATATACATACATAT ATACATGTATATATACACATATATACATACATATATATACATGTATATAT ACACACATATATATGTGTATGTATATGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATATATATATATATATATATATATATATATAATTTTACAACTAA CATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0139 a0001c0001t0004g0139	1	121	0.0083	616	c.59- others(633): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATACACACACACACACACA CACACACACACACATATACATACACATATATATGTGTGTATATATACATG TATATATATGTATGTATATATGTGTATATATACATGTATATATGTATGTA TATATACGTGTATATTATGTATATATATACACATGATATATATGTATGTA TATATCATGTATATATATACATATATGTGTATATATACACGATATATATG TGTATATATCATGTATATATATACATGTATACAATATATTATATATACAT ATATATTATATACATGTATATATACCTGTATACAATATATTATATATACG TGTATATAATATATATACACGTATATATATTGTATACACGTATATATAAT ATATACTTTATATATAATATATACATGTATATATATACTATATATTATAT ATTAATATATACATGTATAATATATACATGTATATATTATATATACATAT ATATGTATATATAATATATACATATATGTACATATAATATACATGTCTAT ATGTATATATATTATACATACATGTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(609): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC ACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCC ACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCC ATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCAT CCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCC ACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTAT CCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCAT CCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0010 a0003c0003t0001g0010	2	9	0.2222	616	c.937 others(633): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACACACAC ACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCACCCAT CCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCCACCC ATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCACTCAT CCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCC ATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(609): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCAT CCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01169.hp1 HG02015.hp2 others(10): Show HG00558.hp2 HG01169.hp1 HG02015.hp2 HG02083.hp2 HG03831.hp2 NA18980.hp1 NA18987.hp2 NA18991.hp1 NA18994.hp2 NA19004.hp2 NA19063.hp2 NA19082.hp1 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0014 a0003c0016 a0003c0003 a0003c0014 a0003c0016	a0003c0003t0001 a0003c0014t0001 a0003c0016t0001 a0003c0003t0001 a0003c0014t0001 a0003c0016t0001	a0003c0003t0001g0007 a0003c0003t0001g0049 a0003c0003t0001g0052 others(9): Show a0003c0003t0001g0007 a0003c0003t0001g0049 a0003c0003t0001g0052 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0080 a0003c0003t0001g0084 a0003c0003t0001g0089 a0003c0003t0001g0093 a0003c0003t0001g0097 a0003c0014t0001g0073 a0003c0016t0001g0099	13	20	0.6500	616	c.937 others(633): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(609): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCC ACCCACCCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCC ATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCAT CCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0068 a0003c0003t0001g0068	1	8	0.1250	616	c.937 others(633): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(609): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGT CCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCC ATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCC ATCCGTCCGTCCATCCATCCACCCATCCACCCATCCACCCACCCACCTAC CCACCCACACACCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCAC CCACACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCACCC ATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCAT CTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCAT CCACCCACCCACCCACC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0055 a0001c0009t0001g0055	1	8	0.1250	616	c.937 others(633): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCATCCGT CCGTCCATCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCC ACACACCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCAACCCATCCACCCACCCATCCAT CCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(609): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCCACCCACCTACCCAC CCACACACCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCAT CCACCCATCAACCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCAC CCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCACCCACCCACCCACCCACCCACCCACCCATCCATCCACCCAC CCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0161 a0001c0002t0001g0162	2	9	0.2222	616	c.937 others(633): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCCACCCACCTACCCACCCACAC ACCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCAT CCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCC ATCAACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCC ACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(609): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCCACCCACCTACCCAC CCACACACCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCC ATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCAT CCACCCATCAACCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCAC CCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCACCCACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCAC CCACCCACCCATCCATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG02622.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0157 a0001c0002t0001g0158	2	9	0.2222	616	c.937 others(633): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCCACCCACCTACCCACCCACAC ACCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCAT CCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCC ATCAACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT TCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACAC ACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAC CCACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCC ACCCATCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(609): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ACTCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCAT CCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCC ATCCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGT CCATCCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCC ATCCACCCATCCACCCATCCACCCATCCACCCACCCACCCACCCACCTAC CCACCCACACACCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCAT CCATCCACCCATCAACCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCAC CCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCACCCACCCACCCACCCACCCACCCACCCATCCATCCACCCAC CCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0160 a0001c0002t0001g0160	1	8	0.1250	616	c.937 others(633): Show c.937-1228_937-1227insCCATCCATCCATCCATCCATCCACTCAT CCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCC GTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCAC CCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCC ATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCACCCACCCACCCACCCACCTACCCACCC ACACACCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATCC ACCCATCAACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCACCCACCCACCCACCCACCCACCCACCCATCCATCCACCCACCCACCC ACCCACCCATCCATCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980139	T T	TCCATCCA others(609): Show TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATC CATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCA TCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATC CACCCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCCA TCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACC CATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCA TCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCACT CATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCA TCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATC CATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCA CCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCCA CCCACCCACCCACCCAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	371	0.0027	616	c.937 others(633): Show c.937-1228_937-1227insCCATCCATCCATCCACTCATCCATCCAT CCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCC ACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCAC CCATCCACCCACCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCACTCAT CCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCC ATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCATCCAT CCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCC ACCCACACACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCACCCACCC ACCCACCCACCCACCCATCCATCCATCCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SAMM50_chr22_43950442_44001529	43980161	C C	CATCCATC others(609): Show CATCCATCCATCCACTCATCCATCCATCCATCCATCCACTCATCCATCCA TCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCCATCCATC CACCCATCCACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCG TCCGTCCGTCCATCCACCCATCCACCCATCCACCCATCCACCCACCCATC CATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCCACCCATCCA CCCACCCACCTACCCACCCACACACCCATCCATCCATCCATCCATCCATC CACTCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCG TCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCAACC CATCCACCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATTCATCCATCCATCCATCCATCTACCCATCCACCCACCCACCCACA CACCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACCCA CCCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCCATCCATC CATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0054 a0003c0003t0001g0054	1	376	0.0027	616	c.937 others(633): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCGTCCATCCACCCACCCACAC ACACACCTATCCATCCATCCACCCATCCACCCATCCACCCATCCACCCAC CCATCCATCCATCCATCCGTCCGTCCGTCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCATCCGTCCGTCCATCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCTACCC ATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCATCCATCCATCCATCCACCC ACCCACCCACCCATCCATCCATCCATCCATCCATCTAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339818	T T	TTCTACCC others(609): Show TTCTACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTC TACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTAT CCCCCCACAAGCATTGCTCCAACCCTCCCCCACTCTCCTCATTCTACCCC CCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCC ACAAGCATTGCTTCAACCCTCCCCCACGCTCCTCATTCTATCCCCCCACA AGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCACAAGC ATCACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCAT CACTCCAACCCTCCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATCA CTCCAACCCTCCCCTACTCTCCTCATTCTACCCCCCCCAAGCATAGCTCC AACCCTCCCCCAACTCTCCTCATTCTACGCCCCCCACAAGCATAGCTCCA ACCCTCCCCCCACTCTCCTCATTCTACCCCCCCCACAAGCACTGCTCCAA CCCTCCCCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCC TCCCCTACTCTCCTCAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	122	0.0082	616	c.89- others(629): Show c.89-584_89-583insGTGAGGAGAGTAGGGGAGGGTTGGAGCAATGC TTGTGGGGGGATAGAATGAGGAGAGTGGGGGAGGGTTGGAGCAGTGCTTG TGGGGGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGT GGGGGGCGTAGAATGAGGAGAGTTGGGGGAGGGTTGGAGCTATGCTTGGG GGGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGG GATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGA TAGAATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATA GAGTGAGGAGAGTAGGGGAGGGTTGGAGCGATGCTTGTGGGGGGATAGAA TGAGGAGCGTGGGGGAGGGTTGAAGCAATGCTTGTGGGGGGATAGAATGA GGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGA GAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGAG TGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTGG GGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(609): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCTC CCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCC CCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCC TCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0035 a0001c0001t0049g0035	1	40	0.0250	616	c.77- others(633): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCT CCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCC CTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCC CTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(609): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCT CCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCCTCCCCTC CCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0097 a0005c0006t0001g0097	1	40	0.0250	616	c.77- others(633): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCT CCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCCT CCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(609): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCTCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCATCCCCTCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTTCCCC CTCCCCCCCCTCCCCCCTCCCCCCCCCTCCCCCCTCCCCCCTCCCCTCCC CCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0037 a0002c0002t0004g0037	1	40	0.0250	616	c.77- others(633): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCTCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCT CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCC TTCCCCCTCCCCCCCCTCCCCCCTCCCCCCCCCTCCCCCCTCCCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(609): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCTC CCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCCCTCCCC CCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCC TCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTCCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0137 a0001c0001t0034g0137	1	45	0.0222	616	c.22+ others(633): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCT CCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCCCTCCCCCTCCC CTCCCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCC CTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTT CCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(609): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCC TCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCT CCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCC CCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCCTCCCCTC CCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0110 a0005c0007t0001g0110	1	45	0.0222	616	c.22+ others(633): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTT CCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCT CCCCCTCCCCCTCCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCCT CCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(609): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCTCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCATCCCCTCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTTCCCC CTCCCCCCCCTCCCCCCTCCCCCCCCCTCCCCCCTCCCCCCTCCCCTCCC CCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0139 a0002c0002t0003g0139	1	45	0.0222	616	c.22+ others(633): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCTCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCACCC CTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTC CCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCT CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCATCCCCTCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCC TTCCCCCTCCCCCCCCTCCCCCCTCCCCCCCCCTCCCCCCTCCCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHROOM2_chrX_9781429_9954443	9792159	T T	TAGAATAG others(609): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0072 a0003c0004t0003g0072	1	193	0.0052	616	c.165 others(633): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATA GAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(609): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGCGGGGAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACG GGGCAGGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0076 a0001c0001t0023g0076	1	6	0.1667	616	c.949 others(631): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTT CCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCG GAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCT CCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(609): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGG GAAGGATCCACGGGGCAGGGGGAGCTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACG GGGCAGGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	6	0.1667	616	c.949 others(631): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCAGCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTT CCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCG GAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCT CCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(609): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACG GGGCAGGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	6	0.1667	616	c.949 others(631): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTT CCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCG GAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCT CCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(609): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACG GGGCAGGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18948.hp2 NA18953.hp2 others(2): Show HG02015.hp2 NA18948.hp2 NA18953.hp2 NA18966.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0011 a0001c0001t0009 a0001c0001t0011	a0001c0001t0009g0013 a0001c0001t0009g0036 a0001c0001t0009g0104 others(1): Show a0001c0001t0009g0013 a0001c0001t0009g0036 a0001c0001t0009g0104 a0001c0001t0011g0035	5	10	0.5000	616	c.949 others(631): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTT CCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCG GAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCT CCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(609): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGCGGGGAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACG GGGCAGGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp1 HG02015.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0225 a0001c0001t0003g0184 a0001c0001t0003g0225	2	7	0.2857	616	c.949 others(631): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTT CCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCG GAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCT CCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(609): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCTGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGGGAGGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCTGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACG GGGCAGGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0164 a0001c0001t0006g0164	1	6	0.1667	616	c.949 others(631): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTT CCCCCAGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCG GAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCT CCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SLC19A1_chr21_45507565_45547440	45531209	G G	GGGGGAGC others(609): Show GGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGA GCCTCCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCC TGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGA AGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATC CACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGG GCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGG GGCGGGGAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGCGGG GAGGGGGAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGG GAGCCTCCGGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCT CCTGGGGAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGG GAAGGATCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGA TCCACGGGGCAGGGGGAGGTGGCGGGGAGCCTCCGGGGGAAGGATCCACG GGGCAGGGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0130 a0001c0001t0003g0130	1	6	0.1667	616	c.949 others(631): Show c.949+179_949+180insGCCACCTCCCCCTGCCCCGTGGATCCTTCC CCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGA GGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCC CCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCA CCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCGCCACCTCCC CCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCC CCGTGGATCCTTCCCCCGGAGGCTCCCCCTCCCCGCCCCCTGCCCCGTGG ATCCTTCCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTT CCCCCGGAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCG GAGGCTCCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCCGGAGGCT CCCCGCCACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGC CACCTCCCCCTGCCCCGTGGATCCTTCCCCAGGAGGCTCCCCGCCACCTC CCCCTGCCCCGTGGATCCTTCCCCCGGAGGCTCCCC	SLC19A1	ENSG00000173638.19	transcript	ENST00000311124.9	protein_coding	3/5			chr21	TogoVar
SMIM36_chr17_55444856_55516452	55501087	A A	ATATCATA others(609): Show ATATCATATTTTATATTATAATATATAATATATATTATATTTTATAATAT ATAATATATATTATATTTTATAATATATAATATATTATATTTTATAATAT ATAATATATTATATTTTATAATATATAATATATTATATTTTATAATATAT AATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAA TATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATAATATATTATAATATATAATATA TAATATATTATAATATATAATATATAATATATTATAATATATAATATATT ATATATTATAATATATAATATATTATATATTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAAAATATTATATTTTATAATATATAAAATATTATATTT TATAATATATAAAATATTATATTTTATAATATATAAAATATATTATATTT TATAATATATAAAATATATTATATTTTATAATATATAATATATATTATAT TTTATAATATATAATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	161	0.0062	616	c.17 others(635): Show c.174+9791_*174+9792insATATTATATATTATAAAATATAATAT ATATTATATATTATAAAATATAATATATTTTATATATTATAAAATATAAT ATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATAAT ATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATAATAT ATTATATATTATAAAATATAATATATTATATATTATAAAATATAATATAT TATATATTATAATATATAATATATTATATATTATAATATATAATATATTA TATATTATAATATATTATATATTATATATTATAATATATTATATATTATA TATTATAATATATTATATATTATATATTATAAAATATAATATATTATATA TTATAAAATATAATATATTATATATTATAAAATATAATATATTATATATT ATAAAATATAATATATTATATATTATAAAATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATATTATAAAATATAATATATATTATATATTATAA AATATAATATATATTATATATTATAATATAAAATATGATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1221592	C C	CTCTGCCT others(609): Show CTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCT CTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCT GCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCT CTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCC CTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGT CTCTGTCTCTCTCCGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCT GTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTCTCTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTCT GTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCT GTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGT CTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCT CTCTCTGTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG01516.hp1 others(2): Show HG01081.hp2 HG01099.hp2 HG01516.hp1 HG02280.hp1 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0111 a0002c0005t0001g0021	5	164	0.0305	616	c.719 others(635): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTGTG TCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT TGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTC TGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTC TCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTC TCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCTCTCTGTC TCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTG CCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTC CCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTT AGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCC TCTGTCTCTGTCTCTCTCCGTCTCTCTCTGTCTCTCTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SORCS2_chr4_7187538_7747827	7724931	A A	AGTAGTGG others(609): Show AGTAGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATAGTGGTAGTGG TGGTGGTGATGGTGGTGATAGTGGTGATGGTGATGGTGATGATGGTGATA GCAGTACTGGTGGTGGTGGTGATGGTACTAATGATGATTATAGTGGAGGT GGTAGTGATGATGGTGACGTTGGTGTTGGTGATGGTGATGATGGTGGTGG TGGTGGTGATAATGGTGACAATGGTGGTGGTGATGGTGGTGGTGATGGTG ATGGTGGTGATGATGGTGGTGGTGGTGACAATGGTGGTGGTGATGGTGGT GATAGGGTGGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGGTGGTGG TGATGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTGCTGGTG AGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTGAT GATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTGT TGGTGGGAATGGATGGTGGTAGTAGTGGTGATGGTGGTGATGATGGTGAT GGTGGTGATGGTGGTGGTGATGGCGGTGATGATGGTGGAGGTGATGGTGG TAGTGGTGATGATGGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0004 a0004	a0004c0044 a0004c0044	a0004c0044t0041 a0004c0044t0041	a0004c0044t0041g0016 a0004c0044t0041g0016	1	50	0.0200	616	c.261 others(633): Show c.2612-208_2612-207insATGGTGGTGGTGATGGTGATGATAGTGG TAGTGGTGGTGGTGATGGTGGTGATAGTGGTGATGGTGATGGTGATGATG GTGATAGCAGTACTGGTGGTGGTGGTGATGGTACTAATGATGATTATAGT GGAGGTGGTAGTGATGATGGTGACGTTGGTGTTGGTGATGGTGATGATGG TGGTGGTGGTGGTGATAATGGTGACAATGGTGGTGGTGATGGTGGTGGTG ATGGTGATGGTGGTGATGATGGTGGTGGTGGTGACAATGGTGGTGGTGAT GGTGGTGATAGGGTGGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGG TGGTGGTGATGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTG CTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTAT GGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGA TAGTGTTGGTGGGAATGGATGGTGGTAGTAGTGGTGATGGTGGTGATGAT GGTGATGGTGGTGATGGTGGTGGTGATGGCGGTGATGATGGTGGAGGTGA TGGTGGTAGTGGTGATGATGGTGGTAGTGGTGATGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724931	A A	AGTAGTGG others(609): Show AGTAGTGGTGATGGTGATGGTGGTGGTGATGGTGATGATAGTGGTAGTGG TGGTGGTGATGGTGGTGATAGTGGTGGTGGTGATGGTGATGATGGTGATA GCAGTACTGGTGGTGGTGGTGATGGTACTAATGATGATTATAGTGGAGGT GGTAGTGATGATGGTGACGTTGGTGTTGGTGATGGTGATGATGGTGGTGG TGGTGGTGATAATGGTGACAATGGTGGTGGTGATGGTGGTGGTGATGGTG ATGGTGGTGATGATGGTGGTGGTGGTGACAATGGTGGTGGTGATGGTGGT GATAGGGTGGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGGTGGTGG TGATGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTGCTGGTG AGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTATGGTGAT GATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGATAGTGT TGGTGGGAATGGATGGTGGTAGTAGTGGTGATGGTGGTGATGATGGTGAT GGTGGTGATGGTGGTGGTGATGGCGGTGATGATGGTGGAGGTGATGGTGG TAGTGGTGATGATGGTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0034 a0003c0012t0034	a0003c0012t0034g0010 a0003c0012t0034g0010	1	50	0.0200	616	c.261 others(633): Show c.2612-208_2612-207insATGGTGGTGGTGATGGTGATGATAGTGG TAGTGGTGGTGGTGATGGTGGTGATAGTGGTGGTGGTGATGGTGATGATG GTGATAGCAGTACTGGTGGTGGTGGTGATGGTACTAATGATGATTATAGT GGAGGTGGTAGTGATGATGGTGACGTTGGTGTTGGTGATGGTGATGATGG TGGTGGTGGTGGTGATAATGGTGACAATGGTGGTGGTGATGGTGGTGGTG ATGGTGATGGTGGTGATGATGGTGGTGGTGGTGACAATGGTGGTGGTGAT GGTGGTGATAGGGTGGTGGTGATGGTGATAGTAGTGGTGGGAATGGATGG TGGTGGTGATGGTGATGGTGGTGGTGTTGGTGATGATGGTGGTGATAGTG CTGGTGAGGATGGTGATGGTGGTGATGGTGGAGGTGATGGTGGTAGTTAT GGTGATGATGGTGGTAGTGGTGATGGTGGTGGTGTTGGTGATGGTGGTGA TAGTGTTGGTGGGAATGGATGGTGGTAGTAGTGGTGATGGTGGTGATGAT GGTGATGGTGGTGATGGTGGTGGTGATGGCGGTGATGATGGTGGAGGTGA TGGTGGTAGTGGTGATGATGGTGGTAGTGGTGATGGTG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPAAR_chr9_35904490_35916686	35914334	G G	GAGTGTGT others(609): Show GAGTGTGTGTATTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGTGTGTGTGTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGTTGTATGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA19067.hp2 NA19089.hp1 NA18983.hp2 NA19067.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	3	359	0.0084	616	c.36 others(627): Show c.3643_*3644insAGTGTGTGTATTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGTGTGTGTGTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTA TGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTA TGCTGTGGTGTGTGTGTAAGTTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2649		chr9	TogoVar
TBC1D22A_chr22_46757650_47180693	46859584	G G	GATAGAGG others(609): Show GATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTT CCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTT TCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTT TTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCTCCTTCCCGGGACCAG AATCCTTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCA GAATCCTTTGTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGAC CAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGA CCAGAATCCTTTTTTGATAGAGGTCCGCACAGTGCCGTGCCCCTTCCCGG GACCAGAATCCTTTTCC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	1	104	0.0096	616	c.638 others(635): Show c.638-19050_638-19049insTGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGA ATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAG AATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACC AGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGAC CAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCTCCTTCCCGGGA CCAGAATCCTTTTCGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGG ACCAGAATCCTTTGTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCG GGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCC GGGACCAGAATCCTTTTTTGATAGAGGTCCGCACAGTGCCGTGCCCCTTC CCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47170899	C C	CGGAGAGA others(609): Show CGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGA GAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGAC AGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGACAGGACAGTCCT GGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTG TAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCC TCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACGCTCCTGATGCAGGACCGGAAAGAGGACAGTCCTGGTGTGTAAC CTTCCTGATGTGGGGCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp1 NA18980.hp2 HG00639.hp1 HG01496.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0089	3	36	0.0833	616	c.142 others(635): Show c.1426-2590_1426-2589insACAGTCCTGGTGTGTAACGCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GACAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCG GAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGA GGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAAAGAGGACAG TCCTGGTGTGTAACCTTCCTGATGTGGGGCTGGAGAGAGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47170899	C C	CGGAGAGA others(609): Show CGGAGAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGA GAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGAC AGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCT GGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTG TAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCC TCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACGCTCCTGATGCAGGACCGGAAAGAGGACAGTCCTGGTGTGTAAC CTTCCTGATGTGGGGCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00558.hp1 others(21): Show HG00280.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp2 HG02145.hp1 HG02257.hp2 HG02809.hp1 HG02965.hp1 HG03239.hp1 HG06807.hp1 NA18962.hp1 NA18962.hp2 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0007 a0001c0001 a0002c0003 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0002c0003t0003 a0004c0007t0001	a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0057 others(21): Show a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0003g0026 a0001c0001t0003g0035 a0001c0001t0003g0075 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0102 a0001c0001t0004g0020 a0001c0001t0012g0054 a0001c0001t0013g0065 a0001c0001t0022g0017 a0002c0003t0003g0028 a0004c0007t0001g0064	24	57	0.4211	616	c.142 others(635): Show c.1426-2590_1426-2589insACAGTCCTGGTGTGTAACGCTCCTGA TGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGG ACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGA GAGAGGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAGAGAGG ACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTC CTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTG TGTAACCCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAAC CCTCCTGATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCT GATGCAGGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCA GGACCGGAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCG GAGAGAGGACAGTCCTGGTGTGTAACCCTCCTGATGCAGGACCGGAGAGA GGACAGTCCTGGTGTGTAACGCTCCTGATGCAGGACCGGAAAGAGGACAG TCCTGGTGTGTAACCTTCCTGATGTGGGGCTGGAGAGAGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCD_chr17_82747065_82950914	82764895	G G	GTGTGCTC others(609): Show GTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTC ATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTG CTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCT GCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAG TCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTT TCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAA GCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGT GTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTC ATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTG CTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(87): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01168.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp2 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18967.hp2 NA18983.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19065.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0007 others(5): Show a0001 a0002 a0007 a0010 a0012 a0014 a0015 a0017	a0001c0001 a0001c0002 a0001c0014 others(12): Show a0001c0001 a0001c0002 a0001c0014 a0001c0015 a0002c0003 a0002c0006 a0002c0011 a0002c0025 a0002c0040 a0007c0016 a0010c0020 a0012c0021 a0014c0034 a0015c0036 a0017c0022	a0001c0001t0002 a0001c0001t0026 a0001c0001t0028 others(21): Show a0001c0001t0002 a0001c0001t0026 a0001c0001t0028 a0001c0002t0001 a0001c0002t0009 a0001c0002t0030 a0001c0002t0040 a0001c0014t0001 a0001c0015t0001 a0002c0003t0003 a0002c0003t0015 a0002c0003t0018 a0002c0006t0003 a0002c0006t0005 a0002c0006t0009 a0002c0011t0003 a0002c0025t0002 a0002c0040t0003 a0007c0016t0001 a0010c0020t0003 a0012c0021t0009 a0014c0034t0001 a0015c0036t0003 a0017c0022t0005	a0001c0001t0002g0223 a0001c0001t0002g0301 a0001c0001t0002g0303 others(87): Show a0001c0001t0002g0223 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0306 a0001c0001t0002g0317 a0001c0001t0026g0287 a0001c0001t0028g0210 a0001c0002t0001g0240 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0259 a0001c0002t0001g0265 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0286 a0001c0002t0009g0279 a0001c0002t0030g0244 a0001c0002t0040g0255 a0001c0014t0001g0273 a0001c0014t0001g0274 a0001c0015t0001g0260 a0001c0015t0001g0289 a0002c0003t0003g0006 a0002c0003t0003g0205 a0002c0003t0003g0208 a0002c0003t0003g0209 a0002c0003t0003g0212 a0002c0003t0003g0214 a0002c0003t0003g0215 a0002c0003t0003g0216 a0002c0003t0003g0217 a0002c0003t0003g0218 a0002c0003t0003g0219 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0222 a0002c0003t0003g0224 a0002c0003t0003g0225 a0002c0003t0003g0226 a0002c0003t0003g0227 a0002c0003t0003g0228 a0002c0003t0003g0229 a0002c0003t0003g0230 a0002c0003t0003g0231 a0002c0003t0003g0252 a0002c0003t0003g0269 a0002c0003t0003g0283 a0002c0003t0003g0285 a0002c0003t0003g0293 a0002c0003t0003g0296 a0002c0003t0003g0302 a0002c0003t0003g0304 a0002c0003t0003g0308 a0002c0003t0003g0310 a0002c0003t0003g0311 a0002c0003t0003g0312 a0002c0003t0003g0316 a0002c0003t0015g0295 a0002c0003t0015g0305 a0002c0003t0018g0202 a0002c0003t0018g0203 a0002c0003t0018g0204 a0002c0006t0003g0313 a0002c0006t0005g0211 a0002c0006t0005g0213 a0002c0006t0005g0250 a0002c0006t0005g0282 a0002c0006t0005g0298 a0002c0006t0009g0251 a0002c0006t0009g0275 a0002c0006t0009g0276 a0002c0006t0009g0288 a0002c0011t0003g0297 a0002c0025t0002g0131 a0002c0040t0003g0309 a0007c0016t0001g0318 a0010c0020t0003g0207 a0012c0021t0009g0272 a0014c0034t0001g0277 a0015c0036t0003g0307 a0017c0022t0005g0284	90	314	0.2866	616	c.333 others(631): Show c.333+835_333+836insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTA CAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGG TGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATA GTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTT CTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82764973	C C	CTGTGTGC others(609): Show CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTC TGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTT ACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGG GTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGT GTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCAT AGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTT TCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGT CTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGC TCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCT TTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTAC AAGCTTGTGGGTGTCTG	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0263 a0001c0002t0001g0263	1	185	0.0054	616	c.333 others(631): Show c.333+915_333+916insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCA TAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTT CTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAG CTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGG TGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTG CTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGC TTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTA CAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATA GTCTGCTTTTCTTACAAGCTTGTGGGTGTCTGTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
THEG_chr19_356747_381026	377282	C C	CCCCCTCT others(609): Show CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCC CACCCAGCCTCTCCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCCCCGT GCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCTCCACCCAGCCT CTCCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCC AGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTACC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCCACCCAGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	329	0.0030	616	c.-13 others(627): Show c.-1313_-1312insAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACGGGGGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGA GAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGAGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCT GGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGA GAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGGGGGGAGAGGCTGGGTGGGGCACAGAGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1257		chr19	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(609): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCT CTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCT GTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCT CTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCT CTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTGTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0079 a0001c0001t0037g0079	1	111	0.0090	616	c.924 others(633): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGA GAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGA GACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(609): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCT CTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCT CTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCT TTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCT CTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT GTCTCTCTCTCTGTCTC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0155 a0001c0001t0002g0155	1	158	0.0063	616	c.924 others(633): Show c.924-2424_924-2423insGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGA GAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACA GAGAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGA GAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGA GAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(609): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCT CTCTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCT CTGTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCT CTCTCTCTGTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGT CTCTTTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGT CTCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCT CTGTCTCTTTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGT CTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT CTGTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA20129.hp2 HG02895.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0005 a0001c0001t0015	a0001c0001t0005g0098 a0001c0001t0015g0004 a0001c0001t0005g0098 a0001c0001t0015g0004	2	159	0.0126	616	c.924 others(633): Show c.924-2424_924-2423insGACAGAGAGAGAGACAGAGAGAGAGAGA CAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGA GAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGA CAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAAAGAGACAGAGAGAGA GAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAAAGAGA CAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGA GAGACAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGA GAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAGACA GAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACA GAGAGAGAGACAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATATTTAT others(609): Show ATATTTATATTTTATTTTTATATTTATATTATATATATATTTTTATATTT ATATTTATATATTATTATATTATATTTATATATTATATAAAAATATATAT CATATATATTTATATATTATATAAAAATATATATCATATATATTTATATA TTATATAAAAATATATATCATATATATTTATATATTATATAAAAATATAT ATCATATATATTTATATATTATATAAAAATATATATCATATATATTTATA TATTATATAAAAATATATATCATATATATTTATATATTAAAAATATATAT CATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAA AAATATATATCATATATATTTATATATTAAAAATATATATCATATATATT TATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATAT CATATATATTTATATATTAAAAATATATATCATATATATTTATATATTAA AAATATATATCATATATATTTATATATTAAAAATATATATCATATATATT TATATATTAAAAATATATATCATATATATTTATATATTAAAAATATATAT CATATATATTTATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0022 a0001c0002t0021g0022	1	58	0.0172	616	c.143 others(637): Show c.1437+28904_1437+28905insTTTATATTTTATTTTTATATTTAT ATTATATATATATTTTTATATTTATATTTATATATTATTATATTATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATAT TTATATATTATATAAAAATATATATCATATATATTTATATATTATATAAA AATATATATCATATATATTTATATATTATATAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTA	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMPRSS9_chr19_2355265_2431261	2418721	T T	TCCTTCCC others(609): Show TCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCT TTCCTTTTCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCT CTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCC CTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTC CCTCCCTACGTCTCCTTTCCTTCCCTCCCTACGTCTCCTTCCCTTCCCTC CCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCA CCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCC ACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCC TCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCT CTCCTTCCCCTCCCTCCCTCCCTTTCCTTCCCCCCTCCCTTTCCTTCCCT CCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTT CCCTCCCTCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCC CTTTCCTTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0012 a0012	a0012c0018 a0012c0018	a0012c0018t0002 a0012c0018t0002	a0012c0018t0002g0001 a0012c0018t0002g0001	1	86	0.0116	616	c.215 others(633): Show c.2154+587_2154+588insCCCTTCTCTCCCTCCCTTTCCTTCCCTT CCCTTCCCTCCCTCCCTTTCCTTTTCTTCTCTCCTTCCCTTTCCTCCCTC CACTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCC TTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCC TACCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTACG TCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTC CTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCT CCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTC TCCTTCCCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTT CCCTTTCCTCCCTCTCTCTCCTTCCCCTCCCTCCCTCCCTTTCCTTCCCC CCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTC CCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCCCTCCCTCCC TTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(609): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC TCCTCCTCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTCT CTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCC TTCTCTTCCTCCTCCTCCCTCCCTCCTCTCCCTCCTCCTCCTCCCCTCCT CTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCT CCTCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCTCC TCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0271 a0001c0001t0007g0271	1	8	0.1250	616	c.424 others(633): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCTCCTCCTCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCCTC CTCCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCT CCTCCTCCCCTTCTCTTCCTCCTCCTCCCTCCCTCCTCTCCCTCCTCCTC CTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCCTCCTCCTCACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCC TCCCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTC CTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TOLLIP_chr11_1269371_1314632	1287391	T T	TGCAGCCT others(609): Show TGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCC CACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCC CCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCC GCCGCACCCTCCCCGCC	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	284	0.0035	616	c.519 others(633): Show c.519+1232_519+1233insGGCGGGGAGGGTGCGGCGGGGAGGGTGC GGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCG GGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287391	T T	TGCAGCCT others(609): Show TGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCA GCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0119 a0001c0001t0008g0119	1	284	0.0035	616	c.519 others(633): Show c.519+1232_519+1233insGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGA GGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGG CGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287391	T T	TGCAGCCT others(609): Show TGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCG CACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCC CCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCA GCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCAGCCTCCCCGCC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0116 a0001c0002t0008g0116	1	284	0.0035	616	c.519 others(633): Show c.519+1232_519+1233insGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGG GTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG GTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCG GGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287675	C C	CCCTCCCC others(609): Show CCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CCCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCT CCCCGCCGCAGCCTCCCCGCCCCACCCTCCCCGCCGCACCCTCCCCGCCG CAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCC CCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCA CCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCCCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCT CCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCG CACCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	221	0.0045	616	c.519 others(631): Show c.519+948_519+949insCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGC GGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGG CGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCG GGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGGGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGGGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGA GGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGG CGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CTGGGGTT others(609): Show CTGGGGTTAGGGAGCCCGGGGTTAGGGAGCCCGGGGTTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGG GTTAGGGAGACCAAGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTA GGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTTAGGGAGACCAAGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCCAGGGTTAAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	393	0.0025	616	c.49 others(627): Show c.4971_*4972insCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCT CCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCTCCCT AACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCT GGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTC CTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTAACCCTTGGTCTCCCTAACCCCCTGGCCTCCCTAAC CCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCC CGGGCTCCCTAACCCCGGGCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar

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