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
CCDC77_chr12_396644_447642	421235	C C	CACATAGC others(1098): Show CACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTG TGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGCTCCATTA CAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATA GCAGCACCCTCCATGTTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGG GAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGT GCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCA GCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAG TGAGAGGGTAAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGC ACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGC ACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTG AGAGGGTAAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCAC TTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCAC ACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTT CTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACACATAGCAGCAC ACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAG AGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTC TGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTC CATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGG TAAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0330 a0001c0001t0004g0330	1	432	0.0023	1105	c.413 others(1122): Show c.413+2602_413+2603insTAGCAGCACCCTCCATGTTCCATTACAG TGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGC AGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGA GTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCCATTACAGTGC ACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGC ACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTG AGAGGGTAAACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCTCT TCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCC TCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAG GGTAAAATACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCT GTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTC CATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGG TAAAATACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCA TGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTA AAATACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATG CTCCATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA ACACACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGT TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC ACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAATACA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CEP131_chr17_81184596_81227965	81207927	A A	ACCACACA others(1098): Show ACCACACACCATACACACCACATACACCACACAACACACACACCACAAAC CACACACACAACACACCACACATACACCATACACACCACACACACCACAT AACACACACCACACACATAACACACACACAACACACCACATACACACACC ATACACGCCACACACTATACACCATGCACAACCACATACCCCACACACCA TACAGTGCACACACACATACACCACACACAACACATAACACACACCATAC ACATAACACACACACACACCATACACACCACACACACCACAAACCAAACA CACAACACACCATACACACCACACACCACACACATAACACACACACCACA TACACACACCATACATACCACACACTACACACCATACACAACCACGTACC ACACACACCACATACCACACACCACATACCACACACCACATACACACCAC ACACACCACATACACCACACACCATACACACCACACACACACACCACACA CCACATACACACACACCACACACATACCATACACACCACACACACACACC ACATACACACACACAGTACACACCACATACCATACACACCACACACACAC ATACACCACATACCATACACACCACACACCACACACACACACACCACATA CACACACTACACACACACCACATACCATACACCCCACACACAGACCACAC ACATACCACATACCACATACACACCACACGCAAACCACACACACACCACA CACGCACCACAAACCACACACAACACACACATACCACACACACCACATAA CACACAAACCACACACACCACATACCATACACACCACACACCACACACAC CACATACACACTACACACACACCACATACCATACACACCACACACACACC ACACATACACACCACACAGACCACACACACCACATACCGCATACACACCA CACACACACAAACCACACACACACCACACACGCACCACAAACCACACACG CCACACACATACCACACACAGACACCACACATACCGCACACACTACATAA CACACAAGCCACACCATACACCACACACCCACCACGTACCACACCCACCC ACTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp1 HG00733.hp1 others(16): Show HG00099.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG01081.hp1 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01934.hp2 HG02257.hp1 HG02738.hp1 HG03239.hp2 HG03540.hp2 HG04115.hp2 NA19011.hp2 NA19030.hp1 NA20129.hp2	a0001 a0028 a0053 a0001 a0028 a0053	a0001c0002 a0001c0004 a0028c0055 others(1): Show a0001c0002 a0001c0004 a0028c0055 a0053c0075	a0001c0002t0002 a0001c0002t0005 a0001c0004t0002 others(2): Show a0001c0002t0002 a0001c0002t0005 a0001c0004t0002 a0028c0055t0002 a0053c0075t0002	a0001c0002t0002g0013 a0001c0002t0002g0047 a0001c0002t0002g0081 others(15): Show a0001c0002t0002g0013 a0001c0002t0002g0047 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0109 a0001c0002t0005g0122 a0001c0002t0005g0123 a0001c0002t0005g0124 a0001c0002t0005g0125 a0001c0002t0005g0126 a0001c0004t0002g0108 a0028c0055t0002g0032 a0053c0075t0002g0094	19	384	0.0495	1105	c.273 others(1120): Show c.273-689_273-688insGGGAGTGGGTGGGTGTGGTACGTGGTGGGT GTGTGGTGTATGGTGTGGCTTGTGTGTTATGTAGTGTGTGCGGTATGTGT GGTGTCTGTGTGTGGTATGTGTGTGGCGTGTGTGGTTTGTGGTGCGTGTG TGGTGTGTGTGTGGTTTGTGTGTGTGTGGTGTGTATGCGGTATGTGGTGT GTGTGGTCTGTGTGGTGTGTATGTGTGGTGTGTGTGTGGTGTGTATGGTA TGTGGTGTGTGTGTAGTGTGTATGTGGTGTGTGTGGTGTGTGGTGTGTAT GGTATGTGGTGTGTGTGGTTTGTGTGTTATGTGGTGTGTGTGGTATGTGT GTGTTGTGTGTGGTTTGTGGTGCGTGTGTGGTGTGTGTGTGGTTTGCGTG TGGTGTGTATGTGGTATGTGGTATGTGTGTGGTCTGTGTGTGGGGTGTAT GGTATGTGGTGTGTGTGTAGTGTGTGTATGTGGTGTGTGTGTGTGTGGTG TGTGGTGTGTATGGTATGTGGTGTATGTGTGTGTGTGGTGTGTATGGTAT GTGGTGTGTACTGTGTGTGTGTATGTGGTGTGTGTGTGTGGTGTGTATGG TATGTGTGTGGTGTGTGTGTATGTGGTGTGTGGTGTGTGTGTGTGGTGTG TATGGTGTGTGGTGTATGTGGTGTGTGTGGTGTGTATGTGGTGTGTGGTA TGTGGTGTGTGGTATGTGGTGTGTGTGGTACGTGGTTGTGTATGGTGTGT AGTGTGTGGTATGTATGGTGTGTGTATGTGGTGTGTGTGTTATGTGTGTG GTGTGTGGTGTGTATGGTGTGTTGTGTGTTTGGTTTGTGGTGTGTGTGGT GTGTATGGTGTGTGTGTGTGTTATGTGTATGGTGTGTGTTATGTGTTGTG TGTGGTGTATGTGTGTGTGCACTGTATGGTGTGTGGGGTATGTGGTTGTG CATGGTGTATAGTGTGTGGCGTGTATGGTGTGTGTATGTGGTGTGTTGTG TGTGTGTTATGTGTGTGGTGTGTGTTATGTGGTGTGTGTGGTGTGTATGG TGTATGTGTGGTGTGTTGTGTGTGTGGTTTGTGGTGTGTGTGTTGTGTGG TGTATGTGGTGTGTATGGTGTGTGG	CEP131	ENSG00000141577.14	transcript	ENST00000450824.7	protein_coding	3/25			chr17	TogoVar
CFAP20DC_chr3_58737008_59055025	58798137	T T	TAAGAAAT others(1098): Show TAAGAAATACATTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCC TACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGG TGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTG GGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACG TGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATAC CCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTG AGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCA CCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGT TGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATAT CTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCA TTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTC TGTTCATGTCCTTCACCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTG TAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGA TGAGTAGGTTGCGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTC TGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCC CATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp1 HG02630.hp2 HG03041.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0182 a0002c0003t0001g0184 a0002c0003t0001g0182 a0002c0003t0001g0184	2	204	0.0098	1105	c.223 others(1124): Show c.2237+8257_2237+8258insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAG GTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAA TGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC CCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCA TGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTT GGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATAAAACACCAAAAGC AATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGA GCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACA ACATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATATC CAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACC CCATCAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCAAAAGAAGAC ATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCAT CAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTTA GAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGC GGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCA ACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAA TACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTAT AAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCACT ATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAG ACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCC ATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGA AACCATCATTCTCAGTAAATGTATTTCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CYLC1_chrX_83856146_83891698	83878168	A A	ATAAATAT others(1098): Show ATAAATATATATAAATATATATAAAAATATATATAAATTTATATAATATA TATATAAAAATATATATTATATATATTATATATATAAATATATATATAAA AATATATATTATATATATTATATATATAAATATATATATAAAAATATATA TTATATATATTATATATATAAATATATATATAAAAATATATATTATATAT ATTATATATATAAATATATATATAAAAATATATATTATATATATTATATA TATAAATATATATATATAAATATATATTATATATATTATATATATAAATA TATATATAAATATATATTATATATATTATATATAATATATATATAAAATA TATATAAATATATATAAATATATATAAAATATATAAATATATATAAAAAT ATATATAAAATATATAAATATATATAAAAATATATATATAAATATATATA TAAAAATATATATAAAAATATGTATATAATATATATATGAAAATATATAT AAAAATATATATATAAATATATATCAATATATATATAAAATATATATAAA TATATATATAAAATATATATATAAAATATATATAAATACATATATAAATA TATATATAAATATATATAAATATATATATATAAAATATATATAAAATATA TATATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATA TATATAAAATATATATAAAAATATACATATAAAATATATATAAAAATATA TATATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATA TATATAAAATATATATAAAAAAATATATAAATATATATAAATATATAAAA ACATATATAAATATATAAATATATATAAATATATAAATATATATATAAAT ATATAAATATATATAAATATATATAAATATATATATAAATATATAAATAT ATATAAATATATATAAATATATATATAAATATATAAATATATATATAAAT ATATATAAATATATATAAATATATAAATATATATATAAATATATATAAAT ATATATAAATATATAAATATATATATAAATATATATAAATATATATAAAT ATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	208	0.0048	1105	c.192 others(1124): Show c.1923+3537_1923+3538insTAAATATATATAAATATATATAAAAA TATATATAAATTTATATAATATATATATAAAAATATATATTATATATATT ATATATATAAATATATATATAAAAATATATATTATATATATTATATATAT AAATATATATATAAAAATATATATTATATATATTATATATATAAATATAT ATATAAAAATATATATTATATATATTATATATATAAATATATATATAAAA ATATATATTATATATATTATATATATAAATATATATATATAAATATATAT TATATATATTATATATATAAATATATATATAAATATATATTATATATATT ATATATAATATATATATAAAATATATATAAATATATATAAATATATATAA AATATATAAATATATATAAAAATATATATAAAATATATAAATATATATAA AAATATATATATAAATATATATATAAAAATATATATAAAAATATGTATAT AATATATATATGAAAATATATATAAAAATATATATATAAATATATATCAA TATATATATAAAATATATATAAATATATATATAAAATATATATATAAAAT ATATATAAATACATATATAAATATATATATAAATATATATAAATATATAT ATATAAAATATATATAAAATATATATATAAAATATATATAAAAATATATA TATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATACA TATAAAATATATATAAAAATATATATATAAAATATATATAAAAATATATA TATAAAATATATATAAAAATATATATATAAAATATATATAAAAAAATATA TAAATATATATAAATATATAAAAACATATATAAATATATAAATATATATA AATATATAAATATATATATAAATATATAAATATATATAAATATATATAAA TATATATATAAATATATAAATATATATAAATATATATAAATATATATATA AATATATAAATATATATATAAATATATATAAATATATATAAATATATAAA TATATATATAAATATATATAAATATATATAAATATATAAATATATATATA AATATATATAAATATATATAAATATATAT	CYLC1	ENSG00000183035.13	transcript	ENST00000329312.5	protein_coding	4/4			chrX	TogoVar
DGKB_chr7_14140049_14907751	14471354	G G	GTATATAT others(1098): Show GTATATATGTGTATACATACATATATGTATGTATATATGTGTATACATAC ATATATGTATGTATATATACATATATGTGTGTATATATGTGTATACATAC ATATATGTGTGTATATATGTGTATACATACATATATGTGTGTATATATGT GTATATATGTGTATACACACATATGTGTGTATATATGTGTATACACACAT ATGTGTGTATATGTGTGTATATATGTGTATACACACATATGTGTGTGTAT ATATGTGTATACACACATATGTGTGTGTATATATGTGTATACACACATAT GTGTGTGTATATATGTGTATACACACATATGCGTGTGTGTATATATGTGT ATACACACATATGCGTGTGTGTATATGTGTGTATACACACATATGCGTGT GTGTATATGTGTGTATACACACATATGCGTGTGTGTATATGTGTGTATAC ACACATATGCGTGTGTGTATATGTGTGTATACACACATATGCGTGTGTGT ATATGTGTGTATACACACATATGCGTGTGTATATGTGTGTATACACATAT ATGCGTGTGTATATGTGTGTATATACACATATATATGCGTGTGTATATGT GTGTATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGT ATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATATACATATGC GTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGTATATAC ATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGT ATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATAT GTGTGTATATACATATGTGTGTATATATGTGTGTATATACATATATATGA GTGTATATATGTGTATATATACATATATATGCGTGTATATATACGTATAT ATGCATGTATATATGTGTATACATACATATATGCATGTATATATGTGTAT ACATACATATATGCATGTATATATGTGTATTCATACATATATGCATGTAT ATATGTGTATTCATACATATATGCATGTATATATGTGTATTCATACATAT ATGCAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	148	0.0068	1105	c.183 others(1124): Show c.1835+6806_1835+6807insATGCATATATGTATGAATACACATAT ATACATGCATATATGTATGAATACACATATATACATGCATATATGTATGA ATACACATATATACATGCATATATGTATGTATACACATATATACATGCAT ATATGTATGTATACACATATATACATGCATATATACGTATATATACACGC ATATATATGTATATATACACATATATACACTCATATATATGTATATACAC ACATATATACACACATATGTATATACACACATATACACACGCATATGTAT ATACACACATATACACACGCATATGTATATACACACATATACACACGCAT ATGTATATACACACATATACACACGCATATGTATATACACACATATACAC ACGCATATGTATATACACACATATACACACGCATATGTATATACACACAT ATACACACGCATATGTATATACACACATATACACACGCATATGTATATAC ACACATATACACACGCATATGTATATACACACATATACACACGCATATAT ATGTGTATATACACACATATACACACGCATATATGTGTATACACACATAT ACACACGCATATGTGTGTATACACACATATACACACACGCATATGTGTGT ATACACACATATACACACACGCATATGTGTGTATACACACATATACACAC ACGCATATGTGTGTATACACACATATACACACACGCATATGTGTGTATAC ACACATATACACACACGCATATGTGTGTATACACATATATACACACACGC ATATGTGTGTATACACATATATACACACACATATGTGTGTATACACATAT ATACACACACATATGTGTGTATACACATATATACACACACATATGTGTGT ATACACATATATACACACATATACACACATATGTGTGTATACACATATAT ACACACATATGTGTGTATACACATATATACACATATATACACACATATAT GTATGTATACACATATATACACACATATATGTATGTATACACATATATAC ACACATATATGTATATATACATACATATATGTATGTATACACATATATAC ATACATATATGTATGTATACACATATATA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
FMN2_chr1_240086883_240480187	240185033	C C	CCCCCTTC others(1098): Show CCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTT CCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTA TACCTGCCCCTTCTCTTTCTCCCTCCTACACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCTTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCC TTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACC TTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCC TATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCT CCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCT CTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTA TACCTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	174	0.0058	1105	c.193 others(1124): Show c.1931-3142_1931-3141insCTTCTCTTTCTCCCTCCTATACCTTC CCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTC TTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTGCCC CTTCTCTTTCTCCCTCCTACACCTTCCCCTTCTCTTTCTCCCTCCTATAC CTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCTTC CTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTC TCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTC TCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTC CCCCTTCTCTTTCTCCCTCCTATACCTGCCCCTTCTCTTTCTCCCTCCTA TACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCC CTCCTATACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CCTTCTCTTTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTAT ACCTTCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCTTTCTCCC TCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCCCTTCTCT TTCTCCCTCCTATACCTTCCCCCTTCTCTTTCTCCCTCCTATACCTTCCC CTTCTCTTTCTCCCTCCTATACCTTCCCC	FMN2	ENSG00000155816.21	transcript	ENST00000319653.14	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
GAS6_chr13_113815549_113869076	113841676	T T	TTCCATAC others(1098): Show TTCCATACACCCCACAGTTTCTTCCATACGCCCCACAGTTTCCTCCATAT GCCCAGTTTCCTCCATACACCCCACAGTTTCCTCCATATGCCTCAATTTC CTCCATACGCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATAT GCCCAGTTTCCTCCATACACCCCAGTTTCCTCCATATGCCTCAATTTCCT CCATACGCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATACAC CCCACAGTTTCCTCCATATGCCCAGTTTCCTCCATACACCCCACAGTTTC CTCCATATGCCTCAATTTCCTCCATATGCCCCCCAGTTTCTTCCATACAC CCCACAGTTTCCTCCATACGCCCCACAGTTTCCTCCATATGCCCAGTTTC TTCCATACGCCCCACAGTTTCCTCCATATGCCTCAATTTCCTCCATACGC CCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATACGCCCCACAGT TTCCTCCATATGCCCAGTTTCTTCCATACGCCCCACAGTTTCCTCCATAT GCCTCAATTTCCTCCATACGCCCCCCAGTTTCTTCCATACACCCCACAGT TTCCTCCATACACCCCACAGTTTCCTCCATATGCCCAGTTTCCTCCATAC ACCCCACAGTTTCCTCCATATGCCTCAATTTCCTCCATACGCCCCCCAGT TTCTTCCATACACCCCAGTTTCCTCCATACACCCCACAGTTTCCTCCATA TGCCCAGTTTCCTCCATACATCCCACAGTTTCCTCCATATGCCTCAATTT CCTCCATACGCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATA CGCCCCACAGTTTCCTCCATATGCCCAGTTTCTTCCATACGCCCCACAGT TTCCTCCATACACCCCACAGTTTCCTCCATATGCCTCAATTTCCTCCATA CGCCCCCCAGTTTCTTCCATACACCCCAGTTTCCTCCATACGCCCCACAG TTTCCTCCATATGCCCAGTTTCTTCCATACGCCCCACAGTTTCCTCCATA TGCCTCAATTTCCTCCATACGCCCCCCCAGTTTCTTCCATACACCCCACA GTTTCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0039 a0004c0010t0001g0039	1	143	0.0070	1105	c.344 others(1122): Show c.344-1827_344-1826insGGAAACTGTGGGGTGTATGGAAGAAACT GGGGGGGCGTATGGAGGAAATTGAGGCATATGGAGGAAACTGTGGGGCGT ATGGAAGAAACTGGGCATATGGAGGAAACTGTGGGGCGTATGGAGGAAAC TGGGGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATAT GGAGGAAACTGTGGGGTGTATGGAGGAAACTGTGGGGCGTATGGAAGAAA CTGGGCATATGGAGGAAACTGTGGGGCGTATGGAGGAAACTGTGGGGTGT ATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATATGGAGGAAA CTGTGGGATGTATGGAGGAAACTGGGCATATGGAGGAAACTGTGGGGTGT ATGGAGGAAACTGGGGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAA TTGAGGCATATGGAGGAAACTGTGGGGTGTATGGAGGAAACTGGGCATAT GGAGGAAACTGTGGGGTGTATGGAGGAAACTGTGGGGTGTATGGAAGAAA CTGGGGGGCGTATGGAGGAAATTGAGGCATATGGAGGAAACTGTGGGGCG TATGGAAGAAACTGGGCATATGGAGGAAACTGTGGGGCGTATGGAGGAAA CTGTGGGGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCA TATGGAGGAAACTGTGGGGCGTATGGAAGAAACTGGGCATATGGAGGAAA CTGTGGGGCGTATGGAGGAAACTGTGGGGTGTATGGAAGAAACTGGGGGG CATATGGAGGAAATTGAGGCATATGGAGGAAACTGTGGGGTGTATGGAGG AAACTGGGCATATGGAGGAAACTGTGGGGTGTATGGAGGAAACTGTGGGG TGTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATATGGAGG AAACTGGGGTGTATGGAGGAAACTGGGCATATGGAGGAAACTGTGGGGTG TATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATATGGAGGAA ACTGTGGGGTGTATGGAGGAAACTGGGCATATGGAGGAAACTGTGGGGCG TATGGAAGAAACTGTGGGGTGTATGGA	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14			chr13	TogoVar
IL18R1_chr2_102350796_102403776	102352800	T T	TAATATAA others(1098): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATAATATATAATATAATATATAATATATAATATATTATATAATATATAA TATAATATATAATATAATATATAATATATAATATATAATATAATATATAA TATATAATATATAATATATAATATAATATATAATGTAATATATAATATAT AATATAATATATAATATATAATATGTAATATAATATATAATATATAATAT ATAATATAATATATAATATACAATACATAATATATAATGTATAATATAAT ATATAATATAATATAAAATATATAATATATAATATATAATATTATATATT TTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCA CTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTT TTCATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTG AGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCT CAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGA TGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACA TACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTG ACCTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTC TTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATG CAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCC ATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGT CCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATAT GATATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCT ATACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0032 a0004c0012t0032	a0004c0012t0032g0205 a0004c0012t0032g0205	1	366	0.0027	1105	c.-36 others(1116): Show c.-3629_-3628insAATATAATATGTATTTTATATATTATATTATATA AAATATAGTATATTATATATAATATAATAAATAATATAATATATAATATA TAATATAATAAATAATATAATATATAATATAATATATAATAAATAATATA ATATATAATATATAATATAATATATAATATAATATATAATATATAATATA TTATATAATATATAATATAATATATAATATAATATATAATATATAATATA TAATATAATATATAATATATAATATATAATATATAATATAATATATAATG TAATATATAATATATAATATAATATATAATATATAATATGTAATATAATA TATAATATATAATATATAATATAATATATAATATACAATACATAATATAT AATGTATAATATAATATATAATATAATATAAAATATATAATATATAATAT ATAATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCT TCCCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATG CTCTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGA CTCCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCT TCACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCC TCAGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTT CAATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTC AATGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAA CACCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACT GTCTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCT CTTCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAAT CCATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGC ATATATATTATATATGATATATATTTTATATATTATTTTATATGTGATAT ATATTTTATATATCTATACAA	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2995		chr2	TogoVar
IL1RL1_chr2_102306563_102357037	102352800	T T	TAATATAA others(1098): Show TAATATAATATGTATTTTATATATTATATTATATAAAATATAGTATATTA TATATAATATAATAAATAATATAATATATAATATATAATATAATAAATAA TATAATATATAATATAATATATAATAAATAATATAATATATAATATATAA TATAATATATAATATAATATATAATATATAATATATTATATAATATATAA TATAATATATAATATAATATATAATATATAATATATAATATAATATATAA TATATAATATATAATATATAATATAATATATAATGTAATATATAATATAT AATATAATATATAATATATAATATGTAATATAATATATAATATATAATAT ATAATATAATATATAATATACAATACATAATATATAATGTATAATATAAT ATATAATATAATATAAAATATATAATATATAATATATAATATTATATATT TTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTCCCCCATTTTCCCA CTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCTCTCAAACACTCTT TTCATATTACAAATGTACTCAAGAACCTGCAGGGACTCCTGTTGTTTGTG AGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTCACCTCTTCTTTCT CAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTCAGCCAAACCCAGA TGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCAATGTGTGACAACA TACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAATGCATGTCCTCTG ACCTTTCCTCAACCAAAATAAATGAAACCCAACAACACCAAACTTCACTC TTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGTCTATAGTCTCATG CAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCTTCACCACCACTCC ATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCCATTGCACCCTTGT CCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCATATATATTATATAT GATATATATTTTATATATTATTTTATATGTGATATATATTTTATATATCT ATACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0021 a0003c0003t0001g0021	1	348	0.0029	1105	c.87 others(1114): Show c.879_*880insAATATAATATGTATTTTATATATTATATTATATAAA ATATAGTATATTATATATAATATAATAAATAATATAATATATAATATATA ATATAATAAATAATATAATATATAATATAATATATAATAAATAATATAAT ATATAATATATAATATAATATATAATATAATATATAATATATAATATATT ATATAATATATAATATAATATATAATATAATATATAATATATAATATATA ATATAATATATAATATATAATATATAATATATAATATAATATATAATGTA ATATATAATATATAATATAATATATAATATATAATATGTAATATAATATA TAATATATAATATATAATATAATATATAATATACAATACATAATATATAA TGTATAATATAATATATAATATAATATAAAATATATAATATATAATATAT AATATTATATATTTTATATATGCATTTCTTCTCTCAAGGCTCTCTTCTTC CCCCATTTTCCCACTGGCCACCCATGCAGGTAGAAGTAATGAGTAATGCT CTCAAACACTCTTTTCATATTACAAATGTACTCAAGAACCTGCAGGGACT CCTGTTGTTTGTGAGCTCAACAATGTGCCACATCTGGCCACAAGCTCTTC ACCTCTTCTTTCTCAGTCCATCCACCTAAGTTCTAGTTACACTTCTCCTC AGCCAAACCCAGATGCTAGCTCTCTCACACTCAAGCTTGTGCTGCCTTCA ATGTGTGACAACATACTAATCTGGAATGGTTTTCTACTTCCCTCTGTCAA TGCATGTCCTCTGACCTTTCCTCAACCAAAATAAATGAAACCCAACAACA CCAAACTTCACTCTTCACTTAGGAAAGTTCATGACTGACTAAGGTACTGT CTATAGTCTCATGCAACTTATCTTGCATTTGCCCCATCAAAATCCTCTCT TCACCACCACTCCATCCAGTGGCCCTGGGTGGCTGATCATCATGGAATCC ATTGCACCCTTGTCCTCTGCTCCAGGCTGGGTTTGGCCAATGGGAGGCAT ATATATTATATATGATATATATTTTATATATTATTTTATATGTGATATAT ATTTTATATATCTATACAA	IL1RL1	ENSG00000115602.17	transcript	ENST00000233954.6	protein_coding		764		chr2	TogoVar
LDLRAD3_chr11_35939062_36237136	36055106	A A	ATAGAGGG others(1098): Show ATAGAGGGATAGTTGGATGAATGGATGGATGGATAGATGGATGGATGGAT GGGTGGATGAATGGATGGATGGATGCATGGATGGATGGATGGATGGTTGG ATGAATGGATGGATGGGTGCATGGATGGATAGATGGATGGATGGATGGAT GAATGGATGGATGGGTGCATGGATGGATAGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGCATGGATGGATGGACGATGGATACATGGATG CATGGATGGATGGATGCATGGATGGATGGATGATGGATACATGGATGCAT GGATGGATGGTTGGATGGATGGATGCATGGATGCATGGATGGATGGATGC ATGGGTGGATGGATGCATGGATGGATGGATGGATGGATGGATGGATAAAT GGATGCATGGATGCATGGATGGATGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATAGATGCATGGATGGATGGATGAATGGATGGATGGAT GGATGGATGGATAGATGGATGAATGGATGAATGGATGAATGGATGGATGA GTAGGTGGAAGGGTAGATAGATAGATGGGTGGGTCAGTGGATGGATGGAT AGTTGGGTGGTTGAGTAGGTGGATGGATGAATGGGTAGATTTATGGGCCG ATGTGTAAAGACAGAGGTCTCTCATTCCACAACCACATGTCCTACTGGAA GCCTTCTCTCCCTTCCTATCCAGGCTAGGTAGATGCCCCTTGTCCCTGCT CCCATAGCATTGCCTCTCTCTACATTTGACTTGTAAACAAGAAGATACAG TAAACTGTTATAGTTTTCATTTTCCAAGGAATCAGATGCTTCAGTACAGC CAGGAAAAGGTCTGATACACCTTGTTCACTGTTATCCCCACACCAAACAA CATTAGCTCCTGCTACATGGGAGATGCTTAGTACACTTTTGTTGAATGAA TCAATGAAAGAACAGTGAGTATTTACTAGTACTTGTGGGGGCAAATCATT GCTTGCATTCTTACATCTCTCTCACTACTGCTGTCTCAGAGCTAGTTTTC TCTTACCAGGAGGCCAGATGGGATTGCTGAGCAAGAATAAGATTGCTTCC ATCTGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	236	0.0042	1105	c.193 others(1124): Show c.193+18857_193+18858insTAGAGGGATAGTTGGATGAATGGATG GATGGATAGATGGATGGATGGATGGGTGGATGAATGGATGGATGGATGCA TGGATGGATGGATGGATGGTTGGATGAATGGATGGATGGGTGCATGGATG GATAGATGGATGGATGGATGGATGAATGGATGGATGGGTGCATGGATGGA TAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGCATGGATG GATGGACGATGGATACATGGATGCATGGATGGATGGATGCATGGATGGAT GGATGATGGATACATGGATGCATGGATGGATGGTTGGATGGATGGATGCA TGGATGCATGGATGGATGGATGCATGGGTGGATGGATGCATGGATGGATG GATGGATGGATGGATGGATAAATGGATGCATGGATGCATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGCATGGATG GATGGATGAATGGATGGATGGATGGATGGATGGATAGATGGATGAATGGA TGAATGGATGAATGGATGGATGAGTAGGTGGAAGGGTAGATAGATAGATG GGTGGGTCAGTGGATGGATGGATAGTTGGGTGGTTGAGTAGGTGGATGGA TGAATGGGTAGATTTATGGGCCGATGTGTAAAGACAGAGGTCTCTCATTC CACAACCACATGTCCTACTGGAAGCCTTCTCTCCCTTCCTATCCAGGCTA GGTAGATGCCCCTTGTCCCTGCTCCCATAGCATTGCCTCTCTCTACATTT GACTTGTAAACAAGAAGATACAGTAAACTGTTATAGTTTTCATTTTCCAA GGAATCAGATGCTTCAGTACAGCCAGGAAAAGGTCTGATACACCTTGTTC ACTGTTATCCCCACACCAAACAACATTAGCTCCTGCTACATGGGAGATGC TTAGTACACTTTTGTTGAATGAATCAATGAAAGAACAGTGAGTATTTACT AGTACTTGTGGGGGCAAATCATTGCTTGCATTCTTACATCTCTCTCACTA CTGCTGTCTCAGAGCTAGTTTTCTCTTACCAGGAGGCCAGATGGGATTGC TGAGCAAGAATAAGATTGCTTCCATCTGT	LDLRAD3	ENSG00000179241.13	transcript	ENST00000315571.6	protein_coding	2/5			chr11	TogoVar
MEGF6_chr1_3482951_3616508	3502044	C C	CCCCCCAC others(1098): Show CCCCCCACACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGGCACC TCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCACATGGGCTC CTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTG CCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGC GAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCG TGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGC TCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGC CCCCCCGCACCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCACGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCC TGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCC CCCGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCA CATGGGCTCCTGGCGAGTGTGCCCCCCCGCACCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCACGCCTCCTCACATGGGCTCCTGGCGAGTGTGCC CCCCCGGCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCT CCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTC CTGGCGAGTGTGCCCCCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCC CCCGTGCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCCGGCGCCTCCTC ACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCACATGGGCTCCT GGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCC CCGCCTCCTCACATGGGCTCCTGGCGAGTGTGCCCCCCGCGCCTCCTCAC ATGGGCTCCTGGCGAGTGTGCCCCCCGCCTCCTCACATGGGCTCCTGGCG AGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0022 a0022	a0022c0029 a0022c0029	a0022c0029t0050 a0022c0029t0050	a0022c0029t0050g0009 a0022c0029t0050g0009	1	292	0.0034	1105	c.218 others(1122): Show c.2189-124_2189-123insCACACTCGCCAGGAGCCCATGTGAGGAG GCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGC GGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACA CTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCA TGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGCGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGCGCCGGGGGGGCACACTCGCCAGGAGCCCAT GTGAGGAGGCGTGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGTGC GGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTC GCCAGGAGCCCATGTGAGGAGGCGCGGGGGGGCACACTCGCCAGGAGCCC ATGTGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGG GGCACACTCGCCAGGAGCCCATGTGAGGAGGCGTGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGTGCGGGGGGGCACACTCGCCAGGAGCCCATG TGAGGCACGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGGCGGGGGG CACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCGCCAGGAG CCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGAGG CGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCACGGGGGGCACACTCG CCAGGAGCCCATGTGAGGAGGCGGGGGGCACACTCGCCAGGAGCCCATGT GAGGAGGCGCGGGGGGCACACTCGCCAGGAGCCCATGTGAGGCGCGGGGG GCACACTCGCCAGGAGCCCATGTGAGGAGGTGCCGGGGGGCACACTCGCC AGGAGCCCATGTGAGGAGGTGTGGGGG	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	17/36			chr1	TogoVar
NOC4L_chr12_132139457_132157468	132150015	T T	TCACACCA others(1098): Show TCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCATAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACC CCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATACCACACCCCTAAT CCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTC GGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAG TGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGC CGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAT ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCCGCTGCCTCACTCCTACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCG GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC ACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCA CACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCC TAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGG TGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGC TCACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	294	0.0034	1105	c.902 others(1120): Show c.902-960_902-959insACACCCCTAATCCCCTCGGTGAGTGCCGCC GCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG CTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCATA CCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACAC CCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACCACACCCCTAA TCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCT CGGTGAGTGCGGCCGCCTCGCTCATACCACACCCCTAATCCCCTCGGTGA GTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCG CCGCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCTGCCTCACTCC TACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATCCC CTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCACTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGGTGAGT GCGGCCGCCTCGCTCACACCACACC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(1098): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGT GAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTG GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTG ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGT GAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAA GGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTG ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGA TGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGA TGATGGTGGTGATGGTGACTGTTGTGATGGTGATGGTGGTGATGGTGATG GTGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGA TGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGATTGTTGT GATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTG ATGGTGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGG TGACTGTTGTAATGGTGATGGTGGTGATGGTGATGATGGTGGTGACGACA GTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGG GTCATGGTGATGGTGATGATGATGAGTGGGGATGGTGGTGATGGTGACTG TTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGACGACAGTGAGT GGTGAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0282 a0002c0002t0002g0282	1	380	0.0026	1105	c.255 others(1124): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCATCACCATCACCATG ACCCTCACCACTCACTGTCATCACCACCACCATCACCATCACCACCATCA CCATCACAACAGTCACCATCACCACCATCATCCCCACTCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCA CCACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCAT CACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCGTCA CCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCAT CACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACC TTCACCACTCACTGTCGTCACCACCATCACCACCACCTTCACCACTCACT GTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCA CCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACCAT CACCTTCACCACTCACTGTCGTCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(1098): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAG TCTGGGGAGGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGG GGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTG AGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGG GGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCA CTGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGA GGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGGTGTGGGG ATGCACTGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGG GGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGGTGT GGGGATGCACTGAGTCTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAGT CTGGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGG GGTGTGGGGATGCACTGAGTCTGGGGGGGAGGGGGGGGTGTGGGGATGCA CTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGG GGGGGTGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCA CTGAGTCTGGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGGA GGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGGAGGGGGGGGGTGTGGG GATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGG GGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGGGAGGGCGGGGCGT GGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCT GGGGGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0195 a0002c0007t0001g0195	1	282	0.0036	1105	c.299 others(1120): Show c.2992-13_2992-12insCCCCCCAGACTCAGTGCATCCCCACACCCC CCCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTC AGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACAC CCCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCCTCCCCCCAG ACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGCATCCCC ACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCC CAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATCC CCACACCCCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCC CCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGC ATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCC CCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCCTCCCCAGACTCA GTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAG ACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGCATCCCC ACACCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCC CCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCAGACTCAGTGCATC CCCACACCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCT CCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCCAGACTCAGTGC ATCCCCACACCCCCCCCCTCCCCAGACTCAGTGCATCCCCACACCCCCCC CTCCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAG TGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACACCCC GCCCATCCCCAGACTCAGTGCATCCCCATGCCCCGCCCTCTCCCCAGACT CAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1098): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCG CCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGG GAGGAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01175.hp2 HG01433.hp2 others(8): Show HG00741.hp2 HG01175.hp2 HG01433.hp2 HG02015.hp2 HG03239.hp2 HG03704.hp2 HG04204.hp1 HG04228.hp1 NA18964.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0003 a0004 a0019 others(1): Show a0003 a0004 a0019 a0037	a0003c0007 a0003c0012 a0003c0013 others(6): Show a0003c0007 a0003c0012 a0003c0013 a0003c0015 a0003c0016 a0004c0006 a0004c0008 a0019c0046 a0037c0043	a0003c0007t0001 a0003c0012t0001 a0003c0013t0001 others(6): Show a0003c0007t0001 a0003c0012t0001 a0003c0013t0001 a0003c0015t0001 a0003c0016t0001 a0004c0006t0003 a0004c0008t0011 a0019c0046t0001 a0037c0043t0002	a0003c0007t0001g0037 a0003c0007t0001g0043 a0003c0012t0001g0025 others(8): Show a0003c0007t0001g0037 a0003c0007t0001g0043 a0003c0012t0001g0025 a0003c0013t0001g0052 a0003c0015t0001g0039 a0003c0015t0001g0041 a0003c0016t0001g0028 a0004c0006t0003g0040 a0004c0008t0011g0026 a0019c0046t0001g0036 a0037c0043t0002g0051	11	134	0.0821	1105	c.575 others(1126): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGG GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA ACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1098): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGAATCAGCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCG CCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGG GAGGAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0004 a0004c0014t0004	a0004c0014t0004g0024 a0004c0014t0004g0024	1	134	0.0075	1105	c.575 others(1126): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCAGGCGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGG GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA ACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1098): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCG CCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGG GAGGAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0048 a0004c0048	a0004c0048t0019 a0004c0048t0019	a0004c0048t0019g0015 a0004c0048t0019g0015	1	134	0.0075	1105	c.575 others(1126): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCC GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGG GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA ACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	51982182	A A	AGGTGGGG others(1098): Show AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGT GAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCTCCTCT GCCTGGCCAGTCGCCCCGTCCAGGAGGGAGGTTGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCAGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGTGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCAG CCGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCAGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCT GGGAGGGAGGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGG GAGGGAGGTGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGAATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC CGCCTGGCCAGCCGCCCCATTCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCGCCCG CCTGGCCAGCCGCCCCGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGG GAGGAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0044 a0044	a0044c0027 a0044c0027	a0044c0027t0001 a0044c0027t0001	a0044c0027t0001g0031 a0044c0027t0001g0031	1	134	0.0075	1105	c.575 others(1126): Show c.5752-22157_5752-22156insATCCTCCCGGACGGGGCGGCTGGC CAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGCGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGAATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCAGGCGGGGGGCTGATTCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCAGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGATCCCCCCACCTCCCTCCCAGACTGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGG GCAGAGGGGTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGGGGGCTGACCCCCCCTCCCCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACTGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCA ACCTCCCTCCTGGACGGGGCGACTGGCCAGGCAGAGGAGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCCACC	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	401948	G G	GACCCGCT others(1098): Show GACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGC CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCC GCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCA CACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTC ACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGGCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCG GCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20300.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0069 a0001c0004t0001g0070	2	216	0.0093	1105	c.173 others(1124): Show c.1738-1126_1738-1125insGCTCACCCCCGGCCCCGCTCACCCCG GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGC CCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCA CCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCG CTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCGCTCACCCCCGG CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCC GCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCGCTCACCCCCGGCCCGCTCACACCCGC CCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCC GCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCT CACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGCCCCGCTCACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
RPH3AL_chr17_207389_357807	304161	G G	GATGGGGA others(1098): Show GATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGT GACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTT TTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGA GGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCA GGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATT GAGCAGTGACCGTGTCTCAGGAAAGAGGTGGGGAGGGAGGGAGGCTGTAC TGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGG GGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCG TGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAAT AATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAG GCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAA GAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCA GTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGG TTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGG GAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCT CAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTA TTGAGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGT ACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGAAAGAGAT GGGGAGGGAGGGAGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGAC CGTGTCTCAGGAAAGAGATGGGGAGGGAGGGAGGCTGTACTGAGGTTTTA ATAATTATTGGGCAGTGACCGTGTCTCAGGAAAGAGATGGGGAGGGAGGG AGGCTGTACTGAGGTTTTAATAATTATTGAGCAGTGACCGTGTCTCAGGA AAGAGA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	133	0.0075	1105	c.351 others(1124): Show c.351+15258_351+15259insTCTCTTTCCTGAGACACGGTCACTGC TCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTT CCTGAGACACGGTCACTGCCCAATAATTATTAAAACCTCAGTACAGCCTC CCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATT AAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGG TCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCA TCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTA CAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAAT AATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGA GACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCC CTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAAC CTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACT GCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCT TTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCC TCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTA TTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACAC GGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCC CACCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAAACCTCAG TACAGCCTCCCTCCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCA ATAATTATTAAAACCTCAGTACAGCCTCCCTCCCTCCCCATCTCTTTCCT GAGACACGGTCACTGCTCAATAATTATTAAAACCTCAGTACAGCCTCCCT CCCTCCCCATCTCTTTCCTGAGACACGGTCACTGCTCAATAATTATTAAA ACCTCAGTACAGCCTCCCTCCCTCCCCAT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGACA others(1098): Show AGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGAGGG GACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGAC AGGGCGAGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAG GGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGC GAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGA GAGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAG GGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGG ACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGAC AGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAG GGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGG GAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGA GGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGG ACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGGACA GGGCGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGG GCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCG GGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGA GGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGG GACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAGGGGGACAGGGCGAGAGGGGACAGGGCGAGAGGGGGACAG GGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAAGGGGACAGGG CGAGAG	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0017 a0017	a0017c0007 a0017c0007	a0017c0007t0014 a0017c0007t0014	a0017c0007t0014g0023 a0017c0007t0014g0023	1	133	0.0075	1105	c.351 others(1124): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCTTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGT CCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCC TCTCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCG CCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCC CTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTC CCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCT CTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGT CCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCC CCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCCCGCCCTGTCCCCC TCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCCCGCCCTGTCCCCCTCC CGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGC CCTGTCCCCCTCCCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCTCGCCC TGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGT CCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCC CCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCTCGCCCTGTCCCC CTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CTCGCCCTGTCCCCTCTCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RYR3_chr15_33305967_33871102	33820898	T T	TGTGGCTC others(1098): Show TGTGGCTCGCCCACCAGCAGTGTGTGAGTTGGCAAGTCTGCCTTAATAAA GCACACTCATTAGCTGTGGTTCTCTTGTCTCTCTGCCCATGAAAAGGTAG CAGGTAGTATGCCAGTCAGCAAACCACTAGCTTTGTTCTTGTGGGAAATT GTACTCAATTACTGTAATAACAGGGGCCATAGAAGGACAAACTGAAACAT CTAAAATGAAAAAGTCAGAAAAATGAAAATCAGGCCAAGCGTGGTGGCTC ACACCTGTAATCCCAGCTCTTTGGGAGGCCAGGGGAGGGAAGATCACTTG AGCTTAGAAGTTCGAGACCAGTCTGGGCAACATAGGGAGACCTACCTCAT CTATACAAAAAATAAAAAATTAGTTGGGTATGGTGGTGTGCTCCTGTAGT CCCAGCTGCTCAGGAGGCAGAGGTAGGAGGATAGTTTGAGCCCAAGTATT TGAGGCTGCAGTGAGTTCTGATTGCACCCTGCACTCCAGGCTGGGCGACA GAGTAACATCCAGTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTAA AAAATCAGAGGAATGGAGACACTTGAATGGTTTTTGTGCTATTATTCTAT AAATGCAAGTTGATAGTGATTTTTATTTTGAGGCAGTACAGGACCCTGCA ATTCTCAAGATTAAACTATATTAGGTTACTTGTACTCTTTTGTAGACAAA GCACATGACAAAACACAGCAGAAGTAAATGACTATAATTACAGTCTGGAA AGCTTTGACATTCTCATAACCCATGTCTGATAGAAAGTGTGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGA AGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTA CTAAAAATACAAAAATTAGCTTGGTGTGGTGGCATACGCCTGTAATCCCA GCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCAGAC GTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGCGACAGAA CAAGACTCCGTCTCAAAAAAAAATGTGTTAGCTGTGGTCTGAGCATTCCA GAGAAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0142 a0001c0010t0001g0142	1	154	0.0065	1105	c.108 others(1122): Show c.10815+86_10815+87insGTGGCTCGCCCACCAGCAGTGTGTGAGT TGGCAAGTCTGCCTTAATAAAGCACACTCATTAGCTGTGGTTCTCTTGTC TCTCTGCCCATGAAAAGGTAGCAGGTAGTATGCCAGTCAGCAAACCACTA GCTTTGTTCTTGTGGGAAATTGTACTCAATTACTGTAATAACAGGGGCCA TAGAAGGACAAACTGAAACATCTAAAATGAAAAAGTCAGAAAAATGAAAA TCAGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGC CAGGGGAGGGAAGATCACTTGAGCTTAGAAGTTCGAGACCAGTCTGGGCA ACATAGGGAGACCTACCTCATCTATACAAAAAATAAAAAATTAGTTGGGT ATGGTGGTGTGCTCCTGTAGTCCCAGCTGCTCAGGAGGCAGAGGTAGGAG GATAGTTTGAGCCCAAGTATTTGAGGCTGCAGTGAGTTCTGATTGCACCC TGCACTCCAGGCTGGGCGACAGAGTAACATCCAGTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAGATTAAAAAATCAGAGGAATGGAGACACTTGAATG GTTTTTGTGCTATTATTCTATAAATGCAAGTTGATAGTGATTTTTATTTT GAGGCAGTACAGGACCCTGCAATTCTCAAGATTAAACTATATTAGGTTAC TTGTACTCTTTTGTAGACAAAGCACATGACAAAACACAGCAGAAGTAAAT GACTATAATTACAGTCTGGAAAGCTTTGACATTCTCATAACCCATGTCTG ATAGAAAGTGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CAAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAA CATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTTGGTGTGG TGGCATACGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATC GCTTGAACTCAGGAGGCAGACGTTGCAGTGAGCCGAGATCGCGCCACTGC ACTCGAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAATGTGTT AGCTGTGGTCTGAGCATTCCAGAGAAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	78/103			chr15	TogoVar
RYR3_chr15_33305967_33871102	33820898	T T	TGTGGCTC others(1098): Show TGTGGCTCGCCCACCAGCAGTGTGTGAGTTGGCAAGTCTGCCTTAATAAA GCACACTCATTAGCTGTGGTTCTCTTGTCTCTCTGCCCATGAAAAGGTAG CAGGTAGTATGCCAGTCAGCAAACCACTAGCTTTGTTCTTGTGGGAAATT GTACTCAATTACTGTAATAACAGGGGCCATAGAAGGACAAACTGAAACAT CTAAAATGAAAAAGTCAGAAAAATGAAAATCAGGCCAAGCGTGGTGGCTC ACACCTGTAATCCCAGCTCTTTGGGAGGCCAGGGGAGGGAAGATCACTTG AGCTTAGAAGTTCGAGACCAGTCTGGGCAACATAGGGAGACCTACCTCAT CTATACAAAAAATAAAAAATTAGTTGGGTATGGTGGTGTGCTCCTGTAGT CCCAGCTGCTCAGGAGGCAGAGGTAGGAGGATAGTTTGAGCCCAAGTATT TGAGGCTGCAGTGAGTTCTGATTGCACCCTGCACTCCAGGCTGGGCGACA GAGTAACATCCAGTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGATTAA AAAATCAGAGGAATGGAGACACTTGAATGGTTTTTGTGCTATTATTCTAT AAATGCAAGTTGATAGTGATTTTTATTTTGAGGCAGTACAGGACCCTGCA ATTCTCAAGATTAAACTATATTAGGTTACTTGTACTCTTTTGTAGACAAA GCACATGACAAAACACAGCAGAAGTAAATGACTATAATTACAGTCTGGAA AGCTTTGACATTCTCATAACCCATGTCTGATAGAAAGTGTGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGTGGCCAAGGCGGGTGGATCACCTGA AGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTA CTAAAAATACAAAAATTAGCTTGGTGTGGTGGCATACGCCTGTAATCCCA GCTACTGGGGAGGCTGAGGCAGGAGAATCGCTTGAACTCAGGAGGCAGAC GTTGCAGTGAGCCGAGATCGCGCCACTGCACTCGAGCCTGGGCGACAGAA CAAGACTCCGTCTCAAAAAAAAATGTGTTAGCTGTGGTCTGAGCATTCCA GAGAAG	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0007 a0004c0016t0007	a0004c0016t0007g0116 a0004c0016t0007g0116	1	154	0.0065	1105	c.108 others(1122): Show c.10815+86_10815+87insGTGGCTCGCCCACCAGCAGTGTGTGAGT TGGCAAGTCTGCCTTAATAAAGCACACTCATTAGCTGTGGTTCTCTTGTC TCTCTGCCCATGAAAAGGTAGCAGGTAGTATGCCAGTCAGCAAACCACTA GCTTTGTTCTTGTGGGAAATTGTACTCAATTACTGTAATAACAGGGGCCA TAGAAGGACAAACTGAAACATCTAAAATGAAAAAGTCAGAAAAATGAAAA TCAGGCCAAGCGTGGTGGCTCACACCTGTAATCCCAGCTCTTTGGGAGGC CAGGGGAGGGAAGATCACTTGAGCTTAGAAGTTCGAGACCAGTCTGGGCA ACATAGGGAGACCTACCTCATCTATACAAAAAATAAAAAATTAGTTGGGT ATGGTGGTGTGCTCCTGTAGTCCCAGCTGCTCAGGAGGCAGAGGTAGGAG GATAGTTTGAGCCCAAGTATTTGAGGCTGCAGTGAGTTCTGATTGCACCC TGCACTCCAGGCTGGGCGACAGAGTAACATCCAGTGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAGATTAAAAAATCAGAGGAATGGAGACACTTGAATG GTTTTTGTGCTATTATTCTATAAATGCAAGTTGATAGTGATTTTTATTTT GAGGCAGTACAGGACCCTGCAATTCTCAAGATTAAACTATATTAGGTTAC TTGTACTCTTTTGTAGACAAAGCACATGACAAAACACAGCAGAAGTAAAT GACTATAATTACAGTCTGGAAAGCTTTGACATTCTCATAACCCATGTCTG ATAGAAAGTGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGTGGC CAAGGCGGGTGGATCACCTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAA CATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTTGGTGTGG TGGCATACGCCTGTAATCCCAGCTACTGGGGAGGCTGAGGCAGGAGAATC GCTTGAACTCAGGAGGCAGACGTTGCAGTGAGCCGAGATCGCGCCACTGC ACTCGAGCCTGGGCGACAGAACAAGACTCCGTCTCAAAAAAAAATGTGTT AGCTGTGGTCTGAGCATTCCAGAGAAG	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	78/103			chr15	TogoVar
SAMD11_chr1_918923_949574	934513	G G	GGGGAGGC others(1098): Show GGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCC GTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGGGCGGCTGCGTTACAGGTGGGCAG GGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCG GCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGG GAGGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTG GGCAGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTCCGTTACAGGTG GGCAGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGT TACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCG GCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCAGG GGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGT GGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGCGGCT GCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGG GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC GGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGCGGCTGCGTTACAGG TGGGCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0272 a0001c0002t0011g0272	1	434	0.0023	1105	c.843 others(1122): Show c.843-1256_843-1255insAGGCGGCTGCGTTACAGGTGGGCAGGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTT ACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGCGGC TGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGGGGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGGAG GCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTCCGTTACAGGTGGGC AGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCC GTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAG GCGGCTCCGTTACAGGTGGGCAGGGGGAGGCGGCTCCGTTACAGGTGGGC AGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTAC AGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCT GCGTTACAGGTGGGCAGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGG GGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGC GGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGGGCGGCTGCGTTACAGGTGGGCAGGGGGAGGCGGCTGCG TTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCG GCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGG GGGCGGCTGCGTTACAGGTGGGCAGGG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289337	C C	CCGTGTCT others(1098): Show CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC GTGTCTCTGCCCCGTCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC CCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGT CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	290	0.0035	1105	c.166 others(1122): Show c.1663-933_1663-932insGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGT CCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTG TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTG CCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTG TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934446	C C	CATATATA others(1098): Show CATATATATATATATTCCATATATATATTCCATATATATATATATTCCAT ATATATATATTCCATATATATATATTCCATATATATATTCCATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATTC CATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATTCCA TATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATTCCATATATATTCCATATATATATTCCAT ATATATATTCCATATATATATATATTCCATATATATATTCCATATATATA TTCCAT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	324	0.0031	1105	c.115 others(1122): Show c.115-2676_115-2675insATGGAATATATATATGGAATATATATAT GGAATATATATATATATGGAATATATATATGGAATATATATATGGAATAT ATATGGAATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATGGAATATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATGGAAT ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATGGAATATATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATATGGA ATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SIGIRR_chr11_400716_419999	401948	G G	GACCCGCT others(1098): Show GACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACA CCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGC CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCC GCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCA CACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTC ACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCG CCCCGCTCACACCCGGCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCG GCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCC CCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	242	0.0041	1105	c.39 others(1116): Show c.3947_*3948insGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAG CGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG CCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCC GGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGT GTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTG AGCGGGCCGGGGGTGAGCGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGG GGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC CGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTG AGCGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGG GGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGG GGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGC GGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGG CCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGG TGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGT GAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGC GGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCC GGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGG GTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAG CGGGGCCGGGGGTGAGCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3767		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1098513	G G	GCCCCCCT others(1098): Show GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATG CCCAGGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTG CACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACC CTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTCT AACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCCCAGGCCCC CTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGC CCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACGCC CAGGCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCA CACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACCCTC TGCACACCCAGCCCCCTTCTAACCCTCTGCACGCCCAGCCCCCCTCTAAC CCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCATGCCCAGCCCCCCTC TAACCCTCTGCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCC CCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCTTCTGCACACCCAG CCCCCTTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCTCAC CCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGC TCACCCAGCCCCCTTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCT CTGCTCACCCAGCCCCCCTCTAACCCTCTGCACGCCCAGCCCCCCTCTAA CCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCT CTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCGTCTGCACGCCCA GCCCCCCTCTAACCCTCTGCTCACCCAGCCCCCCTAACCCTCTGCTCACC CAGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCA CACCCA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	118	0.0085	1105	c.125 others(1122): Show c.125-4266_125-4265insTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGGGGGG CTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCAGACGGTTAGAGG GGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTA GAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGG GTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCGTGCA GAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTG TGCAGAGGGTTAGAAGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTG GGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGG GCTGGGTGAGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAAGGTTAGAG GGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAGGGTT AGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCATGCAGAG GGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGCGTGC AGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGC ATGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCT GGGCATGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGTTAGAGGGG GGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGAGGGTTAGA GGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCGTGCAGAGGGT TAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGTGAGCAGA GGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTG CAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGG GTGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGAAGGGGG CTGGGTGAGCAGAGGGTTAGAGGGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
TCF3_chr19_1604292_1657615	1628357	A A	AGGGGATG others(1098): Show AGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCT CACGGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGATGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCA GAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACA GCAGAGCTCACGGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGG GATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGG GGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCA CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGGATGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGG CGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGC AGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGGATGAGGCGGGAAGGGGAC AGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGG ATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAC AGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGG AAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGG GAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGA GCTCAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0002 a0010c0016t0002	a0010c0016t0002g0260 a0010c0016t0002g0260	1	352	0.0028	1105	c.299 others(1120): Show c.299-932_299-931insGTGAGCTCTGCTGTCCCCTTCCCGCCTCAT CCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGA GCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCCG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCC CCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCC CTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTG TCCCCTTCCCGCCTCATCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTC ATCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGC CTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCATCCCCCGTGAGCTCTGCTGTCCCCTT CCCGCCTCATCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCT GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCC CTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCC CCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCATCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCATCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
VPS53_chr17_503668_719839	646445	T T	TGGCTCCC others(1098): Show TGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCTAAGGGT CTTATCTTTTCTAATCCACACCACTGACTGGAGATTGGCTCCCACACACA TCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAAT TCATACCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACCGTGT GGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTG GAGACTGGCTCCCACACACATCTCCGTGACCACGTGGCCACTGCCTCCTA AGGGTCTTATCTTTTCTAATCCATATCACGGACTGGAGACTGGCTCCCAC ACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTT CTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGAC CGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACG GACTGGAGACTGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCC TCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTGGAGATCGGCT CCCACACACATCTCTGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTAT CTTTTCTAATCCACACCACTGACTGGAGATCGGCTCCCACACACATCTCC GTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTA TCACGGACTGGAGACTGGCTCCCACACACATCTCCGTGACTGCGTGGCCA CTGCCTCCTAAGGGTCTTATCTTTTCTAATCCGTATCACGGACTGGAGAC TGGCTCCCACACACATCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGT CTTATCTTTTCTAATCCGTATCACGGACTGGAGACTGGCTCCCACACACA TCTCCGTGACCGCGTGGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAAT CCACACCACTGACTGGAGATCGGCTCCCACACACATCTCTGTGACCGCGT GGCCACTGCCTCCTAAGGGTCTTATCTTTTCTAATCCACACCACTGACTG GAGATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(2): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG04204.hp2 NA18948.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0001c0002t0001 a0001c0002t0005 a0001c0002t0013	a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 others(2): Show a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0005g0065 a0001c0002t0013g0078	5	232	0.0216	1105	c.608 others(1122): Show c.608+6845_608+6846insGATCTCCAGTCAGTGGTGTGGATTAGAA AAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACAGAGATGTGTGT GGGAGCCGATCTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTA GGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCA GTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCAC GCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGAT TAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCAGTCACGGAGATG TGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGAC CCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCGAT CTCCAGTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTG GCCACGCGGTCACAGAGATGTGTGTGGGAGCCGATCTCCAGTCAGTGGTG TGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGG AGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAAAAGAT AAGACCCTTAGGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAG CCAGTCTCCAGTCCGTGATACGGATTAGAAAAGATAAGACCCTTAGGAGG CAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCG TGATATGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCACGTGGT CACGGAGATGTGTGTGGGAGCCAGTCTCCAGTCCGTGATACGGATTAGAA AAGATAAGACCCTTAGGAGGCAGTGGCCACACGGTCACGGAGATGTGTGT GGGAGCCAGTCTCCAGTCCGTGGTATGAATTAGAAAAGATAAGACCCTTA GGAGGCAGTGGCCACGCGGTCACGGAGATGTGTGTGGGAGCCAATCTCCA GTCAGTGGTGTGGATTAGAAAAGATAAGACCCTTAGGAGGCAGTGGCCAC GTGGTCACGGAGATGTGTGTGGGAGCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	7/21			chr17	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TAAATATA others(1099): Show TAAATATATAAATATATAAATATTTATATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATATATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TATAAATATTTATATATTTATAGATAAATATATATATATAAATATTTATA TATTTATAGATAAATATATAAATATATATATATTTATATATTTATAGATA AATATATAAATATATAAATATTTATAGATAAATATATAAATATATAAATA TTTATATATTTATAGATAAATATATAAATATTTATATATTTATCTATAAA TATATAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0185 a0001c0002t0004g0185	1	306	0.0033	1106	c.130 others(1125): Show c.1308+1324_1308+1325insTTATATATTTATAGATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATATAT TTATCTATAAATATTTATATATTTATATATTTATCTATAAATATATAAAT ATATATATATTTATATATTTATCTATAAATATATAAATATTTATATATAT ATATTTATCTATAAATATATAAATATTTATATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATATAAATATTTATATATTTATATATTT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975252	T T	TAAATATA others(1099): Show TAAATATATAAATATATAAATATTTATATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAA TATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATA AATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATATAAATATTTATATATTTATAGATAAATATATATATATA AATATTTATATATTTATAGATAAATATATAAATATATATATATTTATATA TTTATAGATAAATATATAAATATATAAATATTTATAGATAAATATATAAA TATATAAATATTTATATATTTATAGATAAATATATAAATATTTATATATT TATCGATAAATATATAAATATTTATATATTTATAGATAAATATATAAATA TTTATATATTTATAGATAAATATATAAATATTTATATATTTATAGATAAA TATATAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0013 a0013	a0013c0041 a0013c0041	a0013c0041t0001 a0013c0041t0001	a0013c0041t0001g0191 a0013c0041t0001g0191	1	306	0.0033	1106	c.130 others(1125): Show c.1308+1324_1308+1325insTTATATATTTATCTATAAATATATAA ATATTTATATATTTATCTATAAATATATAAATATTTATATATTTATCTAT AAATATATAAATATTTATATATTTATCGATAAATATATAAATATTTATAT ATTTATCTATAAATATATAAATATTTATATATTTATATATTTATCTATAA ATATTTATATATTTATATATTTATCTATAAATATATAAATATATATATAT TTATATATTTATCTATAAATATATAAATATTTATATATATATATTTATCT ATAAATATATAAATATTTATATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATATATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACAT TTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAAT ATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAA ATATATAAATATTTATATATTTATATATTT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1099): Show AAGGGGAAAGGAAGGAAGGGGAGGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGGAAGGGAAGGGGAAGGGAAGGGGGAAGGGGAAGGGAAGGGAAAA GGGAAGGAGAAAAGGAAGGAAGGGGAAGGGAAGGGGAAGATGAAGGGAAA GGGAAAAGGAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAA GGGGAAAGAAAGGGAGAGGGAGGGGGGCAGGGAAGGGAAGGGGAATGGAA AGAGGAAGGAAGGGGAAGGATGGGGAATGGAAAGGAAGGGGGAAGGGGAA GGGAAGGGAAAGGGAAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAAGGGG GAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAGGGGAAGGGAGGA AGGGGAAGGGGGAGGGAAGGAAAGGGGAATGGAAGGGAAGGGAAAGGAAG GGGAAGGGAAGGGAAGGGAGGAGAAGGGGAAGGGAAGGGAAAAGGAAGGA GAAGAGGAAGGGAAGGGGAGGGGAAGGCAAAGGGGAAGGAAGGAAGGGGG AGGGGAAGGGGAAGGGAAGGGAGGGGAAGGGGAAGGGAAGGGGAAGGGAA GGGGAAGGGAAGGGGAAGGGAAAGGAGGAGAAGAGGAGGGGAAGGGGAGG GGAAGGGGAGGGGAAGGGAAAGGAAGGGGGGAAGGGAAGGTGGAAGGAAG GGGAAGGGGAATGGAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGGGAAGA AGGGGGAGGGGAAGGGGAAAGGGAAGGAAGGGGAAGGGAAAGGAAGGGGG AGGGAAAGGTAAAGGGGAAGGGAAGGGAAGGGGAAGGGATGAGAAAGGAA GGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAGGGAAAAGGAGAAGAA GAGGGGAAGGGGAGGGGAAGGGAAGGGGAAGAAGGAAGGGGGAGGGGAAA GGAAGGAAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGAGAGG GAAGGGAGAAGGGAAGGGGAAGATGAAAGGGGAAGGGGAAAAGGAAGGAG AAGAGGAGGGGAAGGGGAGGGGAAAGGAAGGGGGGAAGGGGAGGGGAGGG GAAGGGG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	242	0.0041	1106	c.927 others(1123): Show c.927+4817_927+4818insCCCCTTCCCCTCCCCTCCCCTTCCCCCC TTCCTTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCCTTCCC CTTTCATCTTCCCCTTCCCTTCTCCCTTCCCTCTCCCTTCCCCTCCCCTT CCCCTCCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCTCCCCCTTCCTTCT TCCCCTTCCCTTCCCCTCCCCTTCCCCTCTTCTTCTCCTTTTCCCTTCCC CTTCCCCTCCCCTTCTCCTTCCCTTCCCCTTCCTTTCTCATCCCTTCCCC TTCCCTTCCCTTCCCCTTTACCTTTCCCTCCCCCTTCCTTTCCCTTCCCC TTCCTTCCCTTTCCCCTTCCCCTCCCCCTTCTTCCCTTTCCCTTCCCTTC CCCTTCCCCTTCCTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCTTCC CCCCTTCCTTTCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTCTTC TCCTCCTTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCC CTTCCCCTCCCTTCCCTTCCCCTTCCCCTCCCCCTTCCTTCCTTCCCCTT TGCCTTCCCCTCCCCTTCCCTTCCTCTTCTCCTTCCTTTTCCCTTCCCTT CCCCTTCTCCTCCCTTCCCTTCCCTTCCCCTTCCTTTCCCTTCCCTTCCA TTCCCCTTTCCTTCCCTCCCCCTTCCCCTTCCTCCCTTCCCCTCCCCTTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCC CTTCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCCTTCCTTTC CATTCCCCATCCTTCCCCTTCCTTCCTCTTTCCATTCCCCTTCCCTTCCC TGCCCCCCTCCCTCTCCCTTTCTTTCCCCTTCCCCTTCCCTTCCCCTCCC CTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTTCCCTTCATCTTCCCCTTC CCTTCCCCTTCCTTCCTTTTCTCCTTCCCTTTTCCCTTCCCTTCCCCTTC CCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCCTCCCCTTCCTTCCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251500	A A	AAGGGGAA others(1099): Show AAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAGGGGAAGGGAAGGGGA AGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGAAAAGGGAAGGAG AAAAGGAAGGGAAGGGGAAGGGAAGGGGAAGATGAAGGGAAAGGGAAAAG GAAGGAGAAGAGGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAGGGGAAAG AAAGGGAGAGAGGGGGCAGGGAAGGGAAGGGGAATGGAAGAGGAAGGAAG GGGAAGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGGAAAGG GAAGGGGGAGGGGAAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGG AGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGAAAGGAAGGGGAAGGGGGAGGGA AAGGAAAGGGGAATGGAAGGGAAGGGAAAGGAAGGGGAAGGGAAGGGGAA GGGGAGGAGAAGGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAAGGGA AGGGGAGGGGAAGGCAAGGGGAAAGGAAGGAAGGGGGAGGGGAAGGGAAG GGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAAGGGAAGGGGAAG GGAAGGGGAAAGGGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGGGAA GGGGAGGGGAAGGGGAGGGGAAGGGGAAAGGAAGGGGGGGAAGGGAAGGT GGAAGGAAGGGGAAGGGGAATGGAAAGGAAGGGGAAGGGGAAGGGAAGGG AAAGGGAAGGGGGAGGGGAAGGGGAAAGGGAAAGGAAGGGGAAGGGAAAG GAAGGGGGAGGGAAAGGAAAGGGGAAGGGAAGGGGAAGGGAAGAGAAAGG AAGGGGAAGGGAAGGAGAAGGGGAGGGGAAGGGGAAGGGAAAAGGAGAAG AAGAGGGGAAGGGGAGGGGAAGGGAAGGGGAAAGGAAGGAAGGGGGAGGG GAAAGGAAGGAAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGGAAGGGA AAGGGAAGGGGAAGATGAAGGGGAAGGGAAAAGGAAGGAGAAGAGGAGGG GAAGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0240 a0001c0001t0005g0240	1	242	0.0041	1106	c.927 others(1123): Show c.927+4817_927+4818insCCCCTTCCCCTCCTCTTCTCCTTCCTTT TCCCTTCCCCTTCATCTTCCCCTTCCCTTTCCCTTCCCCTCCCCTTCCCC TCCCCTTCCCCTCCCCCTTCCTTCCTTTCCCCTCCCCCTTCCTTCCTTTC CCCTTCCCTTCCCCTCCCCTTCCCCTCTTCTTCTCCTTTTCCCTTCCCCT TCCCCTCCCCTTCTCCTTCCCTTCCCCTTCCTTTCTCTTCCCTTCCCCTT CCCTTCCCCTTTCCTTTCCCTCCCCCTTCCTTTCCCTTCCCCTTCCTTTC CCTTTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTTCCCCT TCCTTTCCATTCCCCTTCCCCTTCCTTCCACCTTCCCTTCCCCCCCTTCC TTTCCCCTTCCCCTCCCCTTCCCCTCCCCTTCCCCTCCTCTTCTCCTTCC TTTTCCCTTCCCCTTCCCTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTC CCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTTCCCTTCCCCTCCCCCTTC CTTCCTTTCCCCTTGCCTTCCCCTCCCCTTCCCTTCCTCTTCTCCTTCCT TTTCCCTTCCCCTTCCCCTTCTCCTCCCCTTCCCCTTCCCTTCCCCTTCC TTTCCCTTCCCTTCCATTCCCCTTTCCTTTCCCTCCCCCTTCCCCTTCCT TTCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCCTCCCCCTT CCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCC CCTCCCCCTTCCCCTTCCCCTCCCCCTTCCCTTTCCCTTCCCTTCCCCTT CCCCTTCCTTTCCATTCCCCTTCCTTCCCCTTCCTTCCTCTTCCATTCCC CTTCCCTTCCCTGCCCCCTCTCTCCCTTTCTTTCCCCTTCCCCTTCCCTT CCCCTCCCCTTCCCCTCCTCTTCTCCTTCCTTTTCCCTTTCCCTTCATCT TCCCCTTCCCTTCCCCTTCCCTTCCTTTTCTCCTTCCCTTTTCCCTTCCC TTCCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCC TTCCCCTCCCCCTTCCTTCCTTTCCCCT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(1099): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCTTCATCATCACCACCATCACCATCACCACCATCA CCACCACCACCACTACCACCACCATCATCACCAGCACCACCATCACCATC ACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCAT CACCACCACCACCATCACCATCACCACCACCATCACCACCACCATCAACA CCATTACCACCACCACCACTACCACCACCATCAATACCACCATCACCACC ACCATCATCACCATCACCACCATCATCACCACCACCATCACCACCATCAC CATCACCATCACCACCATCACCATCACCACCACCACCATCATCACCACCA TCACCACCAGCACCACCACTATCAACATCATCATCATCACCACCATCAAC ACCATCATCACCACCACTGTCATCACCACCACCACCACCATCACCACCAC CATCACCACCATCTCACCATCACCATCACCACCATCATCACCACCACCAT CACCACCACCATCATCACCATCACCACCATCATCATCACCACCATCACCA CCACCATCACCACCACCATCACCATCACCATCACCACCACCACCATCACC ACCAGCACCACCAGCACCACCACCATCAACATCATCATCATCACCACCAT CACCACCATCATCACCACCACCGTCATCACCACCAGCACCACCATCACCA CCACCATCACCACCATCTCACCATCATCACCATCACCACCATCATCACCA CCACCATCACCACCACCATCACCATCACCATCACCACCATCTCACCATCA CCATCACCACCACCATCACCATCACCATCACCACCATCATCATCACCACC ATCACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACCAC CAACATCATCATCATCACCACCACCACCACCATCACCACCACCACCACCA TCAACACCACCATCACCACCACCATCATCATCACCACCACCACCATCACC ACCATCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	376	0.0027	1106	c.63+ others(1119): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGA TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATG GTGATGGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTG ATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGAT GATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGCTGGTGGTGAT GACGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGATGATGATGTTGA TGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTGGTGATGGTG ATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGATGATGATGGT GGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGA TGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGG TGATGACAGTGGTGGTGATGATGGTGTTGATGGTGGTGATGATGATGATG TTGATAGTGGTGGTGCTGGTGGTGATGGTGGTGATGATGGTGGTGGTGGT GATGGTGATGGTGGTGATGGTGATGGTGATGGTGGTGATGGTGGTGGTGA TGATGGTGGTGATGGTGATGATGGTGGTGGTGATGGTGGTATTGATGGTG GTGGTAGTGGTGGTGGTGGTAATGGTGTTGATGGTGGTGGTGATGGTGGT GGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGGTGCTGGTGATG ATGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGGT GATGATGAAGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGG TGGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTG ATGATGGTGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(1099): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCTTCATCATCACCACCATCACCATCACCACCATCA CCACCACCACCACTACCACCACCATCATCACCAGCACCACCATCACCATC ACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCAT CACCACCACCACCATCACCATCACCACCACCATCACCACCACCATCAACA CCATTACCACCACCACCACTACCACCACCATCAATACCACCATCACCACC ACCATCATCATCACCATCACCACCATCATCACCACCACCATCACCACCAT CACCATCACCATCACCACCATCACCATCACCACCACCACCATCATCACCA CCATCACCACCAGCACCACCACTATCAACATCATCATCACCACCATCAAC ACCATCATCACCACCACTGTCATCACCACCACCACCACCATCACCACCAC CATCACCACCATCTCACCATCACCATCACCACCATCATCACCACCACCAT CACCACCACCATCATCACCATCACCACCATCATCATCACCACCATCACCA CCACCATCACCACCACCATCACCATCACCATCACCACCACCACCATCACC ACCAGCACCACCAGCACCACCACCATCAACATCATCATCATCACCACCAT CACCACCATCATCACCACCACCGTCATCACCACCAGCACCACCATCACCA CCACCATCACCACCATCTCACCATCATCACCATCACCACCATCATCACCA CCACCATCACCACCACCATCACCATCACCATCACCACCATCTCACCATCA CCATCACCACCACCATCACCATCACCATCACCACCATCATCATCACCACC ATCACCACCACCACCACCACCATCATCACCATCACCACCAGCACCACCAC CAACATCATCATCATCACCACCACCACCACCATCACCACCACCACCACCA TCAACACCACCATCACCACCACCATCATCATCACCACCACCACCATCACC ACCATCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	376	0.0027	1106	c.63+ others(1119): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGA TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATG GTGATGGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTG ATGGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGAT GATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGCTGGTGGTGAT GACGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGATGATGATGTTGA TGGTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTGGTGATGGTG ATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGATGATGATGGT GGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGA TGGTGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGG TGATGACAGTGGTGGTGATGATGGTGTTGATGGTGGTGATGATGATGTTG ATAGTGGTGGTGCTGGTGGTGATGGTGGTGATGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGATGGTGATGGTGGTGATGGTGGTGGTGATGA TGGTGGTGATGGTGATGATGATGGTGGTGGTGATGGTGGTATTGATGGTG GTGGTAGTGGTGGTGGTGGTAATGGTGTTGATGGTGGTGGTGATGGTGGT GGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGGTGCTGGTGATG ATGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGGT GATGATGAAGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGG TGGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTG ATGATGGTGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(1099): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCTTCATCATCACCACCATCACCATCACCACCATCA CCACCACCACCACTACCACCACCATCATCACCAGCACCACCATCACCATC ACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCAT CACCACCACCACCATCACCATCACCACCACCATCACCACCACCATCAACA CCATTACCACCACCACCACTACCACCACCATCAATACCACCATCACCACC ACCATCATCATCACCATCACCACCATCATCACCACCACCATCACCACCAT CACCATCACCATCACCACCATCACCATCACCACCACCACCATCATCACCA CCATCACCACCAGCACCACCACTATCAACATCATCATCATCACCACCATC AACACCATCATCACCACCACTGTCATCACCACCACCACCACCATCACCAC CACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACCAC CATCACCACCACCATCATCACCATCACCACCATCATCATCACCACCATCA CCACCACCATCACCACCACCATCACCATCACCATCACCACCACCACCATC ACCACCAGCACCACCAGCACCACCACCATCAACATCATCATCATCACCAC CATCACCACCATCATCACCACCACCGTCATCACCACCAGCACCACCATCA CCACCACCATCACCACCATCTCACCATCATCACCATCACCACCATCATCA CCACCACCATCACCACCACCATCACCATCACCATCACCACCATCTCACCA TCACCATCACCACCACCATCACCATCACCATCACCACCATCATCATCACC ACCATCACCACCACCACCACCACCATCATCACCATCACCACCAGCACCAC CAACATCATCATCATCACCACCACCACCACCATCACCACCACCACCACCA TCAACACCACCATCACCACCACCATCATCATCACCACCACCACCATCACC ACCATCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01981.hp2 NA18973.hp1 HG01978.hp1 HG01981.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0084 a0001c0001t0001g0020 a0001c0001t0001g0084	3	376	0.0080	1106	c.63+ others(1119): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGATGATGATGTTGGTGGTGCTGGTGGTGATGGTGATGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGTG ATGGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGATG GTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGAT GGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGCTGGTGGTGATGAC GGTGGTGGTGATGATGGTGGTGATGGTGGTGATGATGATGATGTTGATGG TGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTGGTGATGGTGATG GTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGATGATGATGGTGGT GATGGTGATGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGG TGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGACAGTGGTGGTGATGATGGTGTTGATGGTGGTGATGATGATGATGTTG ATAGTGGTGGTGCTGGTGGTGATGGTGGTGATGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGATGGTGATGGTGGTGATGGTGGTGGTGATGA TGGTGGTGATGGTGATGATGATGGTGGTGGTGATGGTGGTATTGATGGTG GTGGTAGTGGTGGTGGTGGTAATGGTGTTGATGGTGGTGGTGATGGTGGT GGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGGTGCTGGTGATG ATGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGGT GATGATGAAGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGG TGGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTG ATGATGGTGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CABP5_chr19_48024383_48049079	48043533	C C	CCACCACC others(1099): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCTTCATCATCACCACCATCACCATCACCACCATCA CCACCACCACCACTACCACCACCATCATCACCAGCACCACCATCACCATC ACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCAT CACCACCACCACCATCACCATCACCACCACCATCACCACCACCATCAACA CCATTACCACCACCACCACTACCACCACCATCAATACCACCATCACCACC ACCATCATCATCACCATCACCACCATCATCACCACCACCATCACCACCAT CACCATCACCATCACCACCATCACCATCACCACCACCACCATCATCACCA CCATCACCACCAGCACCACCACTATCAACATCATCATCATCACCACCATC AACACCATCATCACCACCACTGTCATCACCACCACCACCACCATCACCAC CACCATCACCACCATCTCACCATCACCATCACCACCATCATCACCACCAC CATCACCACCACCATCATCACCATCACCACCATCATCATCACCACCATCA CCACCACCATCACCACCACCATCACCATCACCATCACCACCACCACCATC ACCACCAGCACCACCAGCACCACCACCATCAACATCATCATCATCACCAC CATCACCACCATCATCACCACCACCGTCATCACCACCAGCACCACCATCA CCACCACCATCACCACCATCTCACCATCATCACCATCACCACCATCATCA CCACCACCATCACCACCACCATCACCATCACCATCACCACCATCTCACCA TCACCATCACCACCACCATCACCATCACCATCACCACCATCATCATCACC ACCATCACCACCACCACCACCATCATCACCATCACCACCAGCACCACCAC CAACATCATCATCATCACCACCACCACCACCATCACCACCACCACCACCA TCAACACCACCATCACCACCACCATCATCATCACCACCACCACCATCACC ACCATCT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	376	0.0027	1106	c.63+ others(1119): Show c.63+326_63+327insAGATGGTGGTGATGGTGGTGGTGGTGATGATG ATGGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGA TGATGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGTG ATGGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGATG GTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGAT GGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGCTGGTGGTGATGAC GGTGGTGGTGATGATGGTGGTGATGGTGGTGATGATGATGATGTTGATGG TGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTGGTGATGGTGATG GTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGATGATGATGGTGGT GATGGTGATGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGG TGATGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGACAGTGGTGGTGATGATGGTGTTGATGGTGGTGATGATGATGATGTTG ATAGTGGTGGTGCTGGTGGTGATGGTGGTGATGATGGTGGTGGTGGTGAT GGTGATGGTGGTGATGGTGATGGTGATGGTGGTGATGGTGGTGGTGATGA TGGTGGTGATGGTGATGATGATGGTGGTGGTGATGGTGGTATTGATGGTG GTGGTAGTGGTGGTGGTGGTAATGGTGTTGATGGTGGTGGTGATGGTGGT GGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGGTGCTGGTGATG ATGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGGT GATGATGAAGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGG TGGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTGTTG ATGATGGTGATGATGATGGTGGTG	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding	1/5			chr19	TogoVar
CCDC88C_chr14_91266323_91422820	91293470	A A	ACCTGCCA others(1099): Show ACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACTTTCCC ATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCAC CTTCCCATCCTCACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCA CAGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCTACCTTCCTGTCCCC TCACCTGCCACGGCCCACCTTCCTGCCCCCTCACCTGCCACGGCCCACCT TCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCA CGGCCCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCC TCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCT TCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCA CAGCTCACCTTCCCATCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTC GCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACGGCCCACCTTCCT GTCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGC CCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGC CTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCT GCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGC CCACCTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGC CTGCCACAGCTCACCTTCCCATCCTCACCTGCCACGGCCCACCTTCCTGC CCCCTCG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0268 a0001c0001t0010g0268	1	284	0.0035	1106	c.411 others(1123): Show c.4112+702_4112+703insCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGG CCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCA GGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGG CGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGG CCGTGGCAGGCGAGGGGACAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCA GGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGG TGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCC GTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAA GGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAG GGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGT GGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAA GGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAG GGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTAGGCCGT GGCAGGTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGG TGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGG CGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAA GGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGA TGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CFAP20DC_chr3_58737008_59055025	58798137	T T	TAAGAAAT others(1099): Show TAAGAAATACATTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCC TACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGG TGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTG GGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACG TGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATAC CCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTG AGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCA CCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGT TGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATAT CTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCA TTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTC TGTTCATGTCCTTCACCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTG TAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGA TGAGTAGGTTGCGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTC TGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCC CATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTATCATT CTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACT CATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATA TCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCAT TGGGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCA GCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTA CCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0183 a0002c0003t0001g0183	1	204	0.0049	1106	c.223 others(1125): Show c.2237+8257_2237+8258insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCA GGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTA ATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTC CCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCC ATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTT TGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATAAAACACCAAAAG CAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAG AGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTAC AACATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGCTAATAT CCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAAC CCCATCAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCAAAAGAAGA CATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGCCA TCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGTT AGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATG CGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTC AACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAA ATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAGTA TAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCAC TATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATA GACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGC CATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTGG AAACCATCATTCTCAGTAAATGTATTTCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1099): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG TGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATAT GGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGC TTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGG AGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGT GTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGAT AATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCG GGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCA ATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATAT GGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAG GGGGTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0194 a0001c0001t0020g0194	1	272	0.0037	1106	c.109 others(1125): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTT TATAGATAATATGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGG GGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGT GCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGG CGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTA TAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGG CGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTG CAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATA ATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGG GCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTT TGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATG GGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1099): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGC AGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAAT ATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATA GATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGC GGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATAT GGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGC TTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGG AGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGT GTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGAT AATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCG GGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCA ATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATAT GGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAG GGGGTGT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0090 a0001c0026t0002g0090	1	272	0.0037	1106	c.109 others(1125): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTG GTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTT TATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGG GGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGT GCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGG CGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTA TAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGG CGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTG CAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATA ATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGG GCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTT TGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATG GGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(1099): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGATGATATGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGG GGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAG ATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGC GGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGTGGGGGTGCAG TTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCG GGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGTAGC TTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAGATAATATGG AGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGGGGCGGGGGT GTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAGTGTATAGAT AATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATATGGGGGGCG GGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCAGGGGGTGCA ATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGTAGATAATAT GGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGGGTGGGGTAG GGGGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02300.hp2 HG02257.hp1 HG02300.hp2	a0001 a0001	a0001c0003 a0001c0019 a0001c0003 a0001c0019	a0001c0003t0049 a0001c0019t0002 a0001c0003t0049 a0001c0019t0002	a0001c0003t0049g0158 a0001c0019t0002g0159 a0001c0003t0049g0158 a0001c0019t0002g0159	2	272	0.0074	1106	c.109 others(1125): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGTGGGGGTGCAGTTTATAGA TGATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGT TTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGG TGCAGTTTATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGAT AATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGG GTGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTT ATAGATAATATGGGGGGCGGGGCGGTGGTGCAGTTTATAGATAATATGGG GGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGT GCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATA ATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGG CGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTA TAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGG CGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTG CAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATA ATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGG GCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTT TGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATG GGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
DCLK1_chr13_35763652_36136382	35958279	T T	TTACTACT others(1099): Show TTACTACTATAACCACCACCACCACCACCACCACCACTATAATCATTACC ACTATAACCACCACTACCACCACCACCACTATAACCACCACCACCACCAC TATAACCACCATCATCATCACCACCACTACCACTACTATAACCATTACCA CCATTACTACTATAACCACCACCACCACCACCACCACCACTATAATCATT ACCACTATAACCACCACTACCACCACTACCACTATAACCACCACCACCAC CACTATAACCACCATCATCATCACCACCACTACCACTACTATAACCATTA CCACCATTACTACTATAACCACCACCACCACCACCACCACCACTATAATC ATTACCACTATAACCACCACTACCACCACCACCACTATAACCACCACCAC CACCACTATAACCACCATCATCATCACCACCACTACCACTACTATAACCA TTACCACCATTACTACTATAACCACCACCACCACCACCACCACCACTATA ATCATTACCACTATAACCACCACTACCACCACTACCACTATGATAACCAT CACCACCACCACTATAACCACCATCATCATCACCACCACTACCACTACTG TAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTATAACC ATCACCACCATCACCACTATAACCACCACTACCACCACCACCATTATAAC CACCACCACCACCACTATAACCACCATCATCATCACCACCACTACCACTA CTATAACCATTACCACCATCACTGCTATAACCACCACCACCACCACCACC ACCACTATAATCATTACCACTATAACCACCACTACCACCACTACCACTAT GATAACCATCACCAACACCACTATAACCACCAATGCCAAGAAGTGTTCAT AGCAGGAGTCATAAACACAGGACCAACCAGGGATAGGACCAACCAGGACC AACCAGGACCAACACCACCACCACTACTACCACTACTATAACCATCACCA CCATCACTGCTATAATCACCACCACCACCACCATCACTATAATCATCACC ATCATCACCACTATAACCACCACCACCACCACCACCACCAGTTATAACCA TCACCAC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0187 a0001c0001t0046g0187	1	230	0.0044	1106	c.724 others(1125): Show c.724-10823_724-10822insGTGGTGATGGTTATAACTGGTGGTGG TGGTGGTGGTGGTGGTTATAGTGGTGATGATGGTGATGATTATAGTGATG GTGGTGGTGGTGGTGATTATAGCAGTGATGGTGGTGATGGTTATAGTAGT GGTAGTAGTGGTGGTGGTGTTGGTCCTGGTTGGTCCTGGTTGGTCCTATC CCTGGTTGGTCCTGTGTTTATGACTCCTGCTATGAACACTTCTTGGCATT GGTGGTTATAGTGGTGTTGGTGATGGTTATCATAGTGGTAGTGGTGGTAG TGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTGGTGGTGGTG GTTATAGCAGTGATGGTGGTAATGGTTATAGTAGTGGTAGTGGTGGTGAT GATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAATGGTGGTGGTGG TAGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTATAGTGGTGGTGGTG GTGGTTATAGCAGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGT GATGATGATGGTGGTTATAGTGGTGGTGGTGATGGTTATCATAGTGGTAG TGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTGGTG GTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGTAGT GGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGG TGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTGGTG GTGGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGTGGT AGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAG TGGTAGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTGGTG GTGGTGGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTTATAGTAGT GGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTA TAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAGTGGTG GTGGTGGTGGTGGTGGTGGTTATAGTAGTA	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DCLK2_chr4_150073445_150262438	150251145	C C	CACACATC others(1099): Show CACACATCCCCCACACCCCCACACATCCCCCACACCCCCACATCCCCCAC ACCCCCATCCCCCACATCCCCCACACCCCCCACACCCCCCACATCCCCAC ACCCCCCACATCCCCCACACCCCCATCCCCCACATCCCCCACACCCCCAC ACCCCCACACACCCCCCCACATCCCCCACACCTCCCACACCCCCACACAC CCCCCACACCACACATCCCCCACATCCCCCACACCCCCCACACCCCCCAC ACCACAAATCCCCCACATCCCCCACACCCACACACACCCCCCACACCACA AATCCCCCACACCCCCCACATCCCCCACACCCCCACACACCCCCCACACC ACACATCCCCCACACCCCCCCACATCCCCCACACCACAAATCCCCCACAC CCACACACACCCCCCACACCACAAATCCCCCACACCCCCCACACCCCCAC ACACCCCCCACATCCCCCACACCTCCCACACCCCCACACACCCCCCACAC CACACATCCCCCACATCCCCCACACCCCCCACACCCCCCACACCACAAAT CCCCCACATCCCCCACACCCACACACACCCCCCACACCACAAATCCCCCA CACCCCCCACATCCCCCACACCCCCACACACCCCCCACACCACACATCCC CCACACCCCCCACATCCCCCACACCACAAATCCCCCACATCCCCCACACC CACACACACCCCCCACACCACAAATCCCCCACACCCCCCACATCCCCCAC ACCACACATCCCCCACATCCCCCACACCCCCCACACCCCCCACACCACAA ATCCCCCACATCCCCCACACCCACACACACCCCCCACACCACAAATCCCC CACACCCCCCACATCCCCCACACCCCCACACACCCCCCACACCACACATC CCCCACACCCCCCACATCCCCCACACCACAAATCCCCCACATCCCCCACA CCCCCCACACCCCCCACACCACAAATCCCCCACATCCCCCACACCCCCAC ACACCCCCCACACCACAAATCCCCCACACCCCCCACATCCCCCACACCCC CACACACCCCCCACACCACACATCCCCCACATCCCCCACACCCCCACACA CCCCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	116	0.0086	1106	c.207 others(1125): Show c.2073+1461_2073+1462insACACATCCCCCACACCCCCACACATC CCCCACACCCCCACATCCCCCACACCCCCATCCCCCACATCCCCCACACC CCCCACACCCCCCACATCCCCACACCCCCCACATCCCCCACACCCCCATC CCCCACATCCCCCACACCCCCACACCCCCACACACCCCCCCACATCCCCC ACACCTCCCACACCCCCACACACCCCCCACACCACACATCCCCCACATCC CCCACACCCCCCACACCCCCCACACCACAAATCCCCCACATCCCCCACAC CCACACACACCCCCCACACCACAAATCCCCCACACCCCCCACATCCCCCA CACCCCCACACACCCCCCACACCACACATCCCCCACACCCCCCCACATCC CCCACACCACAAATCCCCCACACCCACACACACCCCCCACACCACAAATC CCCCACACCCCCCACACCCCCACACACCCCCCACATCCCCCACACCTCCC ACACCCCCACACACCCCCCACACCACACATCCCCCACATCCCCCACACCC CCCACACCCCCCACACCACAAATCCCCCACATCCCCCACACCCACACACA CCCCCCACACCACAAATCCCCCACACCCCCCACATCCCCCACACCCCCAC ACACCCCCCACACCACACATCCCCCACACCCCCCACATCCCCCACACCAC AAATCCCCCACATCCCCCACACCCACACACACCCCCCACACCACAAATCC CCCACACCCCCCACATCCCCCACACCACACATCCCCCACATCCCCCACAC CCCCCACACCCCCCACACCACAAATCCCCCACATCCCCCACACCCACACA CACCCCCCACACCACAAATCCCCCACACCCCCCACATCCCCCACACCCCC ACACACCCCCCACACCACACATCCCCCACACCCCCCACATCCCCCACACC ACAAATCCCCCACATCCCCCACACCCCCCACACCCCCCACACCACAAATC CCCCACATCCCCCACACCCCCACACACCCCCCACACCACAAATCCCCCAC ACCCCCCACATCCCCCACACCCCCACACACCCCCCACACCACACATCCCC CACATCCCCCACACCCCCACACACCCCCCA	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DNAH17_chr17_78418697_78582396	78438429	A A	AGGAGGAG others(1099): Show AGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGG GAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GAGGGAGGAGGAGGAGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAG GAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGG AGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGG AGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGA GGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGGAGGGAGGA GGGGGAGGAGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGGA GGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGGAG GAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGGAAGGAGGAGGG AGGAGGAGGAGGGAGGAGGAGGAGGGAGAAGGAGGAGGGAGGAGGGAGGA GGGAGGAGGGAGGAGGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGA GGAGGGAGGAGCGAGGAGGAGGAGGGGGGGAGGAGGGAGGAGGGAGGAGG AGGAGGGGGGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGA GGAGGAG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0109 a0001c0109	a0001c0109t0001 a0001c0109t0001	a0001c0109t0001g0210 a0001c0109t0001g0210	1	252	0.0040	1106	c.118 others(1125): Show c.11806-562_11806-561insCTCCTCCTCCTCCCTCCTCCTCCTCC TCCTCCTCCCTCCTCCTCCTCCCCCCCTCCTCCTCCTCCCTCCTCCCTCC TCCCCCCCTCCTCCTCCTCGCTCCTCCCTCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTC CTTCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTTCCTCCCTC CTCCTTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCC TCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCC TCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCC TCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTC CTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCT CCTCCTCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCT CCTCCCCCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCC TCCCCCTCCTCCCCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCC TCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCCCTCCT CCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCTCCTCCTCCCTCTCCTCCTCCTCCCTCTCCTCCTCCTCCCTCCTCC TCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTC CCTCCTCCCTCCTCCTCCTCCTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
GAS6_chr13_113815549_113869076	113841676	T T	TTCCATAC others(1099): Show TTCCATACACCCCACAGTTTCTTCCATACGCCCCACAGTTTCCTCCATAT GCCCAGTTTCCTCCATACACCCCACAGTTTCCTCCATATGCCTCAATTTC CTCCATACGCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATAT GCCCAGTTTCCTCCATACACCCCACAGTTTCCTCCATATGCCTCAATTTC CTCCATACGCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATAC ACCCCACAGTTTCCTCCATATGCCCAGTTTCCTCCATACACCCCACAGTT TCCTCCATATGCCTCAATTTCCTCCATATGCCCCCCAGTTTCTTCCATAC ACCCCACAGTTTCCTCCATACGCCCCACAGTTTCCTCCATATGCCCAGTT TCTTCCATACGCCCCACAGTTTCCTCCATATGCCTCAATTTCCTCCATAC GCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATACGCCCCACA GTTTCCTCCATATGCCCAGTTTCTTCCATACGCCCCACAGTTTCCTCCAT ATGCCTCAATTTCCTCCATACGCCCCCCAGTTTCTTCCATACACCCCAGT TTCCTCCATACACCCCACAGTTTCCTCCATATGCCCAGTTTCCTCCATAC ACCCCACAGTTTCCTCCATATGCCTCAATTTCCTCCATACGCCCCCCAGT TTCTTCCATACACCCCAGTTTCCTCCATACACCCCACAGTTTCCTCCATA TGCCCAGTTTCCTCCATACATCCCACAGTTTCCTCCATATGCCTCAATTT CCTCCATACGCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATA CGCCCCACAGTTTCCTCCATATGCCCAGTTTCTTCCATACGCCCCACAGT TTCCTCCATACACCCCACAGTTTCCTCCATATGCCTCAATTTCCTCCATA CGCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATACGCCCCAC AGTTTCCTCCATATGCCCAGTTTCTTCCATACGCCCCACAGTTTCCTCCA TATGCCTCAATTTCCTCCATACGCCCCCCAGTTTCTTCCATACACCCCAC AGTTTCC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0011 a0002c0006t0001g0011	1	143	0.0070	1106	c.344 others(1123): Show c.344-1827_344-1826insGGAAACTGTGGGGTGTATGGAAGAAACT GGGGGGCGTATGGAGGAAATTGAGGCATATGGAGGAAACTGTGGGGCGTA TGGAAGAAACTGGGCATATGGAGGAAACTGTGGGGCGTATGGAGGAAACT GTGGGGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATA TGGAGGAAACTGTGGGGTGTATGGAGGAAACTGTGGGGCGTATGGAAGAA ACTGGGCATATGGAGGAAACTGTGGGGCGTATGGAGGAAACTGTGGGGTG TATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATATGGAGGAA ACTGTGGGATGTATGGAGGAAACTGGGCATATGGAGGAAACTGTGGGGTG TATGGAGGAAACTGGGGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAA ATTGAGGCATATGGAGGAAACTGTGGGGTGTATGGAGGAAACTGGGCATA TGGAGGAAACTGTGGGGTGTATGGAGGAAACTGGGGTGTATGGAAGAAAC TGGGGGGCGTATGGAGGAAATTGAGGCATATGGAGGAAACTGTGGGGCGT ATGGAAGAAACTGGGCATATGGAGGAAACTGTGGGGCGTATGGAGGAAAC TGTGGGGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCAT ATGGAGGAAACTGTGGGGCGTATGGAAGAAACTGGGCATATGGAGGAAAC TGTGGGGCGTATGGAGGAAACTGTGGGGTGTATGGAAGAAACTGGGGGGC ATATGGAGGAAATTGAGGCATATGGAGGAAACTGTGGGGTGTATGGAGGA AACTGGGCATATGGAGGAAACTGTGGGGTGTATGGAGGAAACTGTGGGGT GTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATATGGAGGA AACTGTGGGGTGTATGGAGGAAACTGGGCATATGGAGGAAACTGTGGGGT GTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATATGGAGGA AACTGTGGGGTGTATGGAGGAAACTGGGCATATGGAGGAAACTGTGGGGC GTATGGAAGAAACTGTGGGGTGTATGGA	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14			chr13	TogoVar
GRAMD4_chr22_46615386_46684785	46635271	A A	ACCGTGTC others(1099): Show ACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGGACCG TGTCCTCCCTGCCTCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTC CTCCCTGCCTCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCC CTGCCTCCACCCCCGGCCACTCCTGTCCTGGGGAGCCGTGTCCTCCCTGC CCCCGACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCCC CACCCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGC CCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCC GGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCC ACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTC CTGTCCTGGGGAGCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGT CCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTG GGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGA GCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAGCCG TGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGTC CTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCC CTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGC CCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCC GACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACC CCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGG CCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCAC TCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCCT GTCCTGGGGGACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCC TGGGGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	328	0.0031	1106	c.163 others(1123): Show c.163-2549_163-2548insACCCCGGCCACTCCTGTCCTGGGGGACC GTGTCCTCCCTGCCTCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCTCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTC CCTGCCTCCACCCCCGGCCACTCCTGTCCTGGGGAGCCGTGTCCTCCCTG CCCCCGACCCCTGGCCACTCCTGTCCTGGGGGACCGTGTCCTCCCTGCCC CCACCCCCTGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCG CCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCC CGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGC CACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACT CCTGTCCTGGGGAGCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTG TCCTGGGGAACCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCT GGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGG AGCCGTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAGCC GTGTCCTCCCTGCCCCCGCCCCCGGCCACTCCTGTCCTGGGGAACCGTGT CCTCCCTGCCCCCGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTC CCTGCCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTG CCCCCACCCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCC CGACCCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGAC CCCGGCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCG GCCACTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCGACCCCGGCCA CTCCTGTCCTGGGGAACCGTGTCCTCCCTGCCCCCACCCCTGGCCACTCC TGTCCTGGGGGACCGTGTCCTCCCTGCCCCCGACCCCGGCCACTCCTGTC CTGGGGAGCCGTGTCCTCCCTGCCCCCG	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
HBQ1_chr16_175459_186179	186049	G G	GGGGAGGA others(1099): Show GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGAGGAACAGCGACACGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGAACAGCG ACACGGGAGGGAGGAACAGCGACACAGGAGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG AGGAACAGCGACACGGGAGGAACAGCGACACGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGAGGAACAGCGACACGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGAC ACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGAACAGCGACACGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGAACAG CGACACGGGAGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGAACAGCGACACGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGAC ACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGAAC AGCGACACGGGAGGAACAGCGACACGGGGAACAGCGACACGGGGGGAACA GCGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	384	0.0026	1106	c.49 others(1117): Show c.4941_*4942insGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGGAACAGCGACACGGGAGGAACAGCGACACGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGACACAGGAGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGAGGAACAGCGACACGGGAGGAACAGCGACACGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGG AACAGCGACACGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGAGGAACAGCGACACGGGA GGGAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGAACAGCG ACACGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGAGGGA GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGAACAGCGACACGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGAGGAACAGCGACACGGGA GGGAGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGAGGAACAGCGACACGGGAGGAACAGCGACACGGGGAACAGC GACACGGGGGGAACAGCGACAC	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4871		chr16	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCTAC others(1099): Show CCCCCTACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCTACCACCA CTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGA GAGATCCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTT CACCCCCCAACCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCCAC CACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGAT CCCTCTCCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCC CCACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCCACCAC CAAACACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTC ACCCGAAAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTC TCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAA CCACCACTCACCCGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCG AAAGATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCAC CCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCACACCACC AAACACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCA CCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGA TCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCC ACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCA CCACTCACCCGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAA GATCCCTCTCCACCCCCCAACCACTCACCTGAGAGATCCCTCTCCACCCC CGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCACACCACCAAA CACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCC GAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCCGAGAGATCC CTCTCCA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0131 a0001c0001t0004g0131	1	398	0.0025	1106	c.64+ others(1123): Show c.64+11864_64+11865insTGGAGAGGGATCTCTCGGGTGAGTGTTT GGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGG GGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAG AGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCA GGTGAGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGG GGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGA TCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCAGGTGA GTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTCTCGGGTGAGTGTTTGGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGG GTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGG GATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGT GAGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGGA TGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCT TTCGGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGG TGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGG ATCTTTCGGGTGAGTGTTTGGTGGTGTGGGGGTGGAGAGGGATCTTTCGG GTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGGTTGG GGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGGATGGGGAGGGA TCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGGTGAG TGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTT GGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTAGGGGGGTGGAGAG GGATCTTTCGGGTGAGTGGTGGTAGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar

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