Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EML1_chr14_99788413_99947060	99928008	G G	GTGATGGT others(596): Show GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGATGGTG GTGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	230	0.0043	603	c.190 others(622): Show c.1909+7133_1909+7134insATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGAGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTG GTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTG GTGGTGGTGATGGTGATGGTGGTGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
ENTREP2_chr15_29115252_29575979	29131600	T T	TCACACAC others(596): Show TCACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCCCAGCCCC CATCACCTCCCCCTCCACACACACCCCAGCCCCCATCACCTCCCCCTCCA CACACACCCCAGCCCCCATCACCTCCCCCTCCACACACACCAGCCCCCCA CATCACCTCCCCCTCCTCCACACACACCAGCCGCCCAAATTGCCTCCCCC TTCACACACTCCATCCCCCCAAATCACCTCCCCTCGACACACCCCAGCCC CTCACATCACCTCCCCTCCACACACACCCCAGCCCCCCACATCACCTCCC CCTCCTCCACACACCCCAGCCCCCCACATCACCTCCCCCTCCACACACAC CCCAGGCCCCCCACATCGCCTCCCCCTCCACACACACCCCAGGCCCCCCA CATCACCTCCCCCTCCTCCACACACCCTAGGCCCCCCACATCGCCTCCCC CTCCTCCACACACCCCAGCCCCCCACATCGCCTCCCCCTCCACACACACC CCAGGCCCCCCACATCGCCTCCCCCTCCACACACACCCCAGGCCCCCCAC ATCACCTCCCCCTCCTCCACACACCCTAGGCCCCCCACATCGCCTCCCCC TCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0036 a0001c0008t0036	a0001c0008t0036g0045 a0001c0008t0036g0045	1	2	0.5000	603	c.928 others(620): Show c.928-2737_928-2736insTGGAGGGGGAGGCGATGTGGGGGGCCTA GGGTGTGTGGAGGAGGGGGAGGTGATGTGGGGGGCCTGGGGTGTGTGTGG AGGGGGAGGCGATGTGGGGGGCCTGGGGTGTGTGTGGAGGGGGAGGCGAT GTGGGGGGCTGGGGTGTGTGGAGGAGGGGGAGGCGATGTGGGGGGCCTAG GGTGTGTGGAGGAGGGGGAGGTGATGTGGGGGGCCTGGGGTGTGTGTGGA GGGGGAGGCGATGTGGGGGGCCTGGGGTGTGTGTGGAGGGGGAGGTGATG TGGGGGGCTGGGGTGTGTGGAGGAGGGGGAGGTGATGTGGGGGGCTGGGG TGTGTGTGGAGGGGAGGTGATGTGAGGGGCTGGGGTGTGTCGAGGGGAGG TGATTTGGGGGGATGGAGTGTGTGAAGGGGGAGGCAATTTGGGCGGCTGG TGTGTGTGGAGGAGGGGGAGGTGATGTGGGGGGCTGGTGTGTGTGGAGGG GGAGGTGATGGGGGCTGGGGTGTGTGTGGAGGGGGAGGTGATGGGGGCTG GGGTGTGTGTGGAGGGGGAGGTGATGGGGGCTGGGGTGTGTGTGGAGGGG GAGGTGATGGGGGCTGGGGTGTGTG	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	7/10			chr15	TogoVar
FLT3_chr13_27998274_28105576	27998891	T T	TATTTATA others(596): Show TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATGCATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATATAAATATATGTTATATATAT TTATATGCATATAAATATATATTTATATGCATATAAATATATATTTATAT GCATATAAATATATATTTATATGCATATAAATATATATGTATATACATAT AAATATATGTATATACATATAAATATATATGTATATACATATAAATATAT ATGTATATACATATATATATATGTATATACATATAAATATATATGTATAT ACATATATATATGTATATACATATATATATGTATATACATATAAATATAT ATGTATATACATATAAATATATATGTATATACATATATATATATGTATAT ACATATAAATATATATGTATATACATATAAATATATATGTATGTATATTA TATACATATAAATATATATATTTATATACATATAAATATATATATTTATA TACATATAAATATATATTTATATACATATAAATATATATTTATATACATA TAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0002 a0007c0015t0002	a0007c0015t0002g0171 a0007c0015t0002g0171	1	246	0.0041	603	c.51 others(614): Show c.5160_*5161insTTTATATGTATATAAATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATATTTATATGTATATAATATACATACATATATATTTATATGTAT ATACATATATATTTATATGTATATACATATATATATATGTATATACATAT ATATTTATATGTATATACATATATATTTATATGTATATACATATATATAT GTATATACATATATATATGTATATACATATATATTTATATGTATATACAT ATATATATATGTATATACATATATATTTATATGTATATACATATATATTT ATATGTATATACATATATTTATATGTATATACATATATATTTATATGCAT ATAAATATATATTTATATGCATATAAATATATATTTATATGCATATAAAT ATATATTTATATGCATATAAATATATATAACATATATTTATATATAAATA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATATTTATATGCATATAAATATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAAT	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4382		chr13	TogoVar
GPIHBP1_chr8_143208218_143222170	143218250	A A	ACCCACCA others(596): Show ACCCACCACCACCCACCACAAGGCCCAACACCACCCCCAACACCACCCCC ACACCACCCCCACACCACCCCAACACCACCCCCAACACCACCCCCACACC ACCCCCAACACCACCCCCACCACCACCCCCAACACCACCCCAACACCACC CCCAACACCACCCCCACACCACCCCCACACCACCCCCACCACCACCCCCA ACACCACCCCCACACCACCCCCAACACCACCCCCAACACCACCCCCACAC CACCCCCAACACCACCCCCACACCACCCCCACACCACCCCCACCACCACC CCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCC AACACCACCCCCACACCACCCCCACCACCACCCCCAACACCACCCCCACA CCACCCCCACCACCACCCCCACCACCACCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACC CCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCC AACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACA CCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	70	0.0143	603	c.27 others(614): Show c.2732_*2733insCCCACCACCACCCACCACAAGGCCCAACACCACC CCCAACACCACCCCCACACCACCCCCACACCACCCCAACACCACCCCCAA CACCACCCCCACACCACCCCCAACACCACCCCCACCACCACCCCCAACAC CACCCCAACACCACCCCCAACACCACCCCCACACCACCCCCACACCACCC CCACCACCACCCCCAACACCACCCCCACACCACCCCCAACACCACCCCCA ACACCACCCCCACACCACCCCCAACACCACCCCCACACCACCCCCACACC ACCCCCACCACCACCCCCAACACCACCCCAACACCACCCCCAACACCACC CCCAACACCACCCCCAACACCACCCCCACACCACCCCCACCACCACCCCC AACACCACCCCCACACCACCCCCACCACCACCCCCACCACCACCCCAACA CCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACC ACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACC CCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCC AACACCACCCCAACACCAC	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1081		chr8	TogoVar
GPRIN1_chr5_176590802_176615156	176592340	T T	TGATGGTT others(596): Show TGATGGTTGTGGTGGGTGGTGGTGGTGTGGATGGGTGTGGTGGGGTGAGG TGATGGTGTGGTGGTGTGGTGGTGATGGGGGTGGTGGTGTGAGGTGATGG TGTGGGTGATGGTGTGGGTGTGATGGTGGTGGTGGGGTGATGGTGTGGGG TGATGGTGTGGGGTGGGATGGTGTGGTGGTGGTGATGGTGAGGGTGTGTG GGGAGGGGTGATGGTGGTGGTGGTGTTGGGAGGTGGGTGTGGTGGTGATG GGGTGGGTGAGGGTGGTGGTGTGGGGTGGTGGAGGTGTGTGGTGGTGGTG TGGGGTGGTGGTGTGGGTGTGGTGTGGTGTGGGTGATGGTGGTGGGATGG TGTGTGGGTGTGGTGTGGTTGTGATGGTGGGTGGTGTGGTGGTTGGTGTG GTGGTGTGGTGGTGATGGTTGTGGTGGTGATGGTGATGATGGGTGGTGGT GGTGGTGGGGGTTGGGTGATGGTGGTGGGTAGTGGTGGTGGGTGATGGTG GTGGCATGGTGATGGTGGTGATGGTGGTCATGGTGTGGTGGGTTGGGTTG GTGTGGGTGGATGGATGGTGGTGATGAGTGATGGTGATGATGGTGGTGGT GGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	396	0.0025	603	c.44 others(614): Show c.4467_*4468insCACCACCACCACCATCATCACCATCACTCATCAC CACCATCCATCCACCCACACCAACCCAACCCACCACACCATGACCACCAT CACCACCATCACCATGCCACCACCATCACCCACCACCACTACCCACCACC ATCACCCAACCCCCACCACCACCACCACCCATCATCACCATCACCACCAC AACCATCACCACCACACCACCACACCAACCACCACACCACCCACCATCAC AACCACACCACACCCACACACCATCCCACCACCATCACCCACACCACACC ACACCCACACCACCACCCCACACCACCACCACACACCTCCACCACCCCAC ACCACCACCCTCACCCACCCCATCACCACCACACCCACCTCCCAACACCA CCACCACCATCACCCCTCCCCACACACCCTCACCATCACCACCACCACAC CATCCCACCCCACACCATCACCCCACACCATCACCCCACCACCACCATCA CACCCACACCATCACCCACACCATCACCTCACACCACCACCCCCATCACC ACCACACCACCACACCATCACCTCACCCCACCACACCCATCCACACCACC ACCACCCACCACAACCATC	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		3461		chr5	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(596): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGAGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGG GGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGA ATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGG AGGTTGGGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGG TTGGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTG GGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGG GAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAG GGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGT GCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGG TTGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	130	0.0077	603	c.684 others(616): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGAGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGG GGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGG GAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAA GGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGG TGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGA TGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCG GTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTG GGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGG AGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(596): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGG GGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGAATAGGGGAGGGGG AATGGAGGTGGGGGGAAGGGGTGTGGGATACGATTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGG TTGGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTG GGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGG GAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAG GGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGT GTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGG GGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGCGTGGGAT GCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGG TTGG	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0067 a0001c0009t0067	a0001c0009t0067g0141 a0001c0009t0067g0141	1	130	0.0077	603	c.684 others(616): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATG GAGGTTGGGGGGAAGGGGTGTGGGGTGCGAATAGGGGAGGGGGAATGGAG GTGGGGGGAAGGGGTGTGGGATACGATTGGGGGAGGGGGAATGGAGGTTG GGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGG GAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAG GGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGT GCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGA TTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGCGTGGGATGCGATTG GGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGG AGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(596): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGG GGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGA ATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGG AGGTTGGGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGG TTGGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTG GGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGG GAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAG GGGTGTGGGGTGAGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGT GCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGG TTGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp1 HG02258.hp1 others(1): Show HG01099.hp1 HG01891.hp1 HG02258.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0034 a0001c0001t0081 a0001c0001t0082 others(1): Show a0001c0001t0034 a0001c0001t0081 a0001c0001t0082 a0001c0006t0083	a0001c0001t0034g0036 a0001c0001t0081g0031 a0001c0001t0082g0089 others(1): Show a0001c0001t0034g0036 a0001c0001t0081g0031 a0001c0001t0082g0089 a0001c0006t0083g0206	4	133	0.0301	603	c.684 others(616): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGG GGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGG GAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAA GGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGG TGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGAGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGA TGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCG GTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTG GGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGG AGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(596): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGG GGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGA ATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGG AGGTTGGGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGG TTGGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTG GGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGG GAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAG GGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGG TGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGT GCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGG TTGG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	130	0.0077	603	c.684 others(616): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATG GAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGG TTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGG GGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGG GAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAA GGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGG TGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTG GGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGG TGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCG GTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTG GGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGGGGG AGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GRAMD1B_chr11_123425269_123632767	123584374	T T	TGGGAGGG others(596): Show TGGGAGGGGGAATGGAGGTTGGGGGGAAAGGGTGTGGGGTGCGATTGGGG GAGGGGGAATGGAGGTTGGGGGAAGGGTGTGGGGTGCGGTTGGGGGAGGG GGAATGGAGGTTGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGGAA TGGAGGTTGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGA GGTTGGGGGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGT TGGGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGAATGGAGGTTGGG GGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGA AGGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGG GGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGT GTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGG GGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTG CGGTTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGG TTGG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0055 a0001c0001t0016g0055	1	130	0.0077	603	c.684 others(616): Show c.684+66_684+67insGAAAGGGTGTGGGGTGCGATTGGGGGAGGGGG AATGGAGGTTGGGGGAAGGGTGTGGGGTGCGGTTGGGGGAGGGGGAATGG AGGTTGGGGAAGGGGTGTGGGGTGCGGTTGGGGGAGGGGGGAATGGAGGT TGGGGGAAGGGGTGTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGG GGGAAGGGGTGTGGGATGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGG AAGGGGTGTGGGGTGCGGTTGGGGGAGGGGAATGGAGGTTGGGGGGAAGG GGTGTGGGGTGCGGTTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGGT GTGGGGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGG GGTGCGATTGGGGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGAT GCGATTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGG TTGGGGGAGGGGGAATGGAGGTTGGGGGAAGGGGTGTGGGGTGCGGTTGG GGGAGGGGGAATGGAGGTTGGGGGGAAGGGGTGTGGGGTGCGGTTGGGGG AGGGGGAATGGAGGTTGGGGG	GRAMD1B	ENSG00000023171.20	transcript	ENST00000635736.2	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HPCAL1_chr2_10297904_10432604	10399520	C C	CCACCACC others(596): Show CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCATCATCACCACCACCACCACCACCACCATCACCACCACCAT CATCACCACCACCACCACCACCATCACCACCACCATCATCACCACCACCA CCACCACCACCATCACCACCACCATCATCACCACCACCACCACCACCATC ACCACCACCATCATCACCACCACCACCACCACCACCATCACCACCACCAT CACCACCACCATCACCACCACCATCATCACCACCACCACCACCACCATCA CCACCACCATCATCACCACCACCACCACCACCATCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCAC CACCACCACCACCACCACCATCACCACCACCATCATCACCACCACCACCA CCACCACCATCACCACCACCATCACCACCACCACCACCACCATCACCACC ACCATCACCACCACCATCGCCGCCACCACCACCACCATCGCCGCCACCAC CACCACCACCATCACCATCACCACCACCACCACCATCACCATCATCACCA CCAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0251 a0001c0001t0006g0251	1	309	0.0032	603	c.-25 others(620): Show c.-25+2604_-25+2605insACCATCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCATCATCACCACCACCACCACCACC ACCATCACCACCACCATCATCACCACCACCACCACCACCATCACCACCAC CATCATCACCACCACCACCACCACCACCATCACCACCACCATCATCACCA CCACCACCACCACCATCACCACCACCATCATCACCACCACCACCACCACC ACCATCACCACCACCATCACCACCACCATCACCACCACCATCATCACCAC CACCACCACCACCATCACCACCACCATCATCACCACCACCACCACCACCA TCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCAT CATCACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCA CCACCACCATCACCACCACCATCACCACCACCATCGCCGCCACCACCACC ACCATCGCCGCCACCACCACCACCACCATCACCATCACCACCACCACCAC CATCACCATCATCACCACCATCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33323151	T T	TATATACG others(596): Show TATATACGTATGGAATATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTA TGGAATATATATATATGGAATATACGTATGGAATATATATATATGGAATA TATACGTATGGAATATATATATGGAATATATATGTATGGAATATATATAT GGAATATATATGTATGGAATATATATGTATGGAATATATATGTATGGAAT ATATGTATGGAATATATATGTATGGAATATATATATGGAATATATATGTA TGGAATATATATATGGAATATATATATGGAATATATATGTATGGAATATA TATATGGAATATATATGTATGGAATATACATATGGAATATATATGTTTGG AATATATATATATGGAATATATATGTATGGAATATATATATATGGAATAT ATGTATGGAATATATATATGGAATATATGTATGGAATATATATATATGGA ATATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATA TGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0214 a0002c0002t0002g0214	1	302	0.0033	603	c.-19 others(614): Show c.-1905_-1904insATATACGTATGGAATATATATATGGAATATATAC GTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGAAT ATATACGTATGGAATATATATATATGGAATATACGTATGGAATATATATA TATGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAATA TATATATATGGAATATATACGTATGGAATATATATATGGAATATATATGT ATGGAATATATATATGGAATATATATGTATGGAATATATATGTATGGAAT ATATATGTATGGAATATATGTATGGAATATATATGTATGGAATATATATA TGGAATATATATGTATGGAATATATATATGGAATATATATATGGAATATA TATGTATGGAATATATATATGGAATATATATGTATGGAATATACATATGG AATATATATGTTTGGAATATATATATATGGAATATATATGTATGGAATAT ATATATATGGAATATATGTATGGAATATATATATGGAATATATGTATGGA ATATATATATATGGAATATATGTATGGAATATATATATATGGAATATATG TATGGAATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1818		chr21	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(596): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCAGGGCTCAGGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGAGGGGAG GCGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0049 a0001c0003t0012g0049	1	100	0.0100	603	c.623 others(620): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGC GGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTGGAGTTCGGTGG GGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGG GAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGGAGGCGGGGCT CTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGG CGGGGGCTCGGGAGGGGAGGCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(596): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCGGGGCTCGGGGGGTAGGTGGGGGC TCAGGAGGGGAGGTAGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAG GCAGGGCTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCA GGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGGCTCGGGAGGGGAGGC GGGGCTCGGGAGGGGAGGCGGGGGCTCGGGGGGAGGCGGGGCTCAGGGGG GAGGCGGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGG CGGGGCTCAGGGGGGAGGCGTGGCTCAGGAGGGAGAGGTGGAGTTCGGTG GGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCT CTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGAGGGGAG GCGG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0241 a0001c0002t0002g0241	1	100	0.0100	603	c.623 others(620): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCGGGGC TCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTAGGACTCAGGAGGGAGA GGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCTGGAGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCT CGGGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCG GGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGGCTCGGGG GGAGGCGGGGCTCAGGGGGGAGGCGGGGGCTCTGGAGGGGAGGCGGGGCT CTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGG CGGGGCTCGGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGTGGCTCAGGAG GGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCT CTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGG CGGGGGCTCGGGAGGGGAGGCGGGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
KCNG2_chr18_79792938_79905100	79795224	T T	TGAGAGAC others(596): Show TGAGAGACACGGGACTGATTTACGGGATCACAGGGGAAGAAAAACACACA CGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCACAG GGGGAGAAAAACACACTTGAGGCCTGTCCACATCTGAGAGACACGGGACT GATTTACGGGATCAGAGAGGGAGAGAAACACACTTGAGGCCTGTCCACGT CTGAGAGACACGGGACTGATTTACGGGATCACAGGGGGAGAAAAACACAC ACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCACA GGGGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGAC TGATTTACGGGATCAGAGAGGGAGAGAAACACACTTGAGGCCTGTCCACG TCTGAGAGACACGGGACTGATTTACGGGATCACAGGGGGAGAAAAACACA CACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGATTTACGGGATCAC AGGGGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGA CCGATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCAC GTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0296 a0001c0005t0001g0296	1	275	0.0036	603	c.-29 others(614): Show c.-2905_-2904insGAGAGACACGGGACTGATTTACGGGATCACAGGG GAAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGACCGA TTTACGGGATCACAGGGGGAGAAAAACACACTTGAGGCCTGTCCACATCT GAGAGACACGGGACTGATTTACGGGATCAGAGAGGGAGAGAAACACACTT GAGGCCTGTCCACGTCTGAGAGACACGGGACTGATTTACGGGATCACAGG GGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGACCG ATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCACGTC CGAGAGACACGGGACTGATTTACGGGATCAGAGAGGGAGAGAAACACACT TGAGGCCTGTCCACGTCTGAGAGACACGGGACTGATTTACGGGATCACAG GGGGAGAAAAACACACACGAGGCCTGCCCACGTCCGAGAGACACGGGACC GATTTACGGGATCACAGGGGGAGAAAAACACACACGAGGCCTGCCCACGT CCGAGAGACACGGGACCGATTTACGGGATCACAGGGGGAGAAAAACACAC ACGAGGCCTGCCCACGTCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding		2713		chr18	TogoVar
KIF17_chr1_20659014_20723007	20712845	T T	TTATCTAT others(596): Show TTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGATAAT ATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATATAGA TATTATCTATATTATAGATAATATCTATAATATAGATATAGATATTATCT ATATCTATAATATAGATAATATTATCTATATTATAGATATAGATAATATT ATCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAA TATTATCTATAATATAGATATAGATATTATCTATATCTATAATATAGATA ATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATA GATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAA TATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCT ATAATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTAT ATCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTAT CTATATCTATAATATAGATAATATTATCTATATTATAGATATTATCTATA TATA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0381 a0008c0012t0001g0381	1	291	0.0034	603	c.480 others(618): Show c.480+608_480+609insTATATATAGATAATATCTATAATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGA TATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATTA TAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTAT ATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTAT CTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATA TCTATATCTATATTATAGATAATATTATCTATATCTATAATATAGATAAT ATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGA TAATATTATCTATATTATAGATATAGATAATATCTATATCTATATTATAG ATATTATCTATAATATAGATAATATCTATATTATAGATATTATCTATAAT ATAGATAATATCTATATTATAGATATTATCTATAATATAGATATAGATAA TATCTATATCTATAATATAGATA	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KIF1A_chr2_240708767_240825219	240786702	G G	GCATCAGG others(596): Show GCATCAGGACCCCTGAGTAAAGGGGTGGGGGCTGCCTGCTGGGCCCCTGA GTGAGGGGTGGGGGCCGCCATCAGGACCCCTGAGTGAGAGGGTAGGGGCC ACCATCAGGAACCCTGAGTGAGAGGGTGGGGGCCACCATCAGGACCCCTG AGTGAGGGGGTGGGGGCTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGG CCACCATCAGGAACCCTGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCC TGAGAGAGAGGGTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGG GGCCACCACCAGGACCCCTGAGGGGATGGGAGCCAGCATCAGGACCCCTG AGTGAGAGGGTGGGGGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGG CTGCCTGCTGGGCCCCTGAGTGAGAGGGTAGGGGCCACCATCAGGAACCC TGAGTGAGAGGGTAGGGGCTGCCATCAGGACCCCTGAGAGAGAGGGTAGG GGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCACCAGGACC CCTGAGGGGATGGGAGCCAGCATCAGGACCCCTGAGTGAGAGGGTGGGGG CCAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01943.hp1 HG02055.hp2 others(4): Show HG00408.hp1 HG01943.hp1 HG02055.hp2 HG02735.hp1 NA19067.hp1 NA19088.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0001c0012 a0003c0036	a0001c0001t0001 a0001c0003t0003 a0001c0003t0008 others(4): Show a0001c0001t0001 a0001c0003t0003 a0001c0003t0008 a0001c0006t0007 a0001c0012t0006 a0001c0012t0020 a0003c0036t0008	a0001c0001t0001g0106 a0001c0003t0003g0109 a0001c0003t0008g0100 others(4): Show a0001c0001t0001g0106 a0001c0003t0003g0109 a0001c0003t0008g0100 a0001c0006t0007g0174 a0001c0012t0006g0110 a0001c0012t0020g0147 a0003c0036t0008g0290	7	247	0.0283	603	c.430 others(618): Show c.430-190_430-189insGTGGCCCCCACCCTCTCACTCAGGGGTCCT GATGCTGGCTCCCATCCCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCT CACTCAGGGGTCCTGATGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGA TGGCAGCCCCTACCCTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCT CTCACTCAGGGGCCCAGCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCT GATGGTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGCTGGCTCCCATC CCCTCAGGGGTCCTGGTGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGA TGGTGGCCCCTACCCTCTCTCTCAGGGGTCCTGATGGCAGCCCCTACCCT CTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGCCCA GCAGGCAGCCCCCACCCCCTCACTCAGGGGTCCTGATGGTGGCCCCCACC CTCTCACTCAGGGTTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTC CTGATGGCGGCCCCCACCCCTCACTCAGGGGCCCAGCAGGCAGCCCCCAC CCCTTTACTCAGGGGTCCTGATG	KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48			chr2	TogoVar
LMF1_chr16_848634_975984	859649	C C	CAGTGGTG others(596): Show CAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGT GTCACGGGACGGGTGTGAGTGATGTCTCGGGACGGGTGTGAGTGGTGTCA CGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGG ACGGGTGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACG GGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTG CGAGTGGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAG TGGTGTCTCGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGCGAGTGGT GTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGGTG GGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTG TGCA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	117	0.0085	603	c.153 others(622): Show c.1530-4944_1530-4943insTGCACACCCACCCCGAGACACCACTC ACACCCACCCCGAGACACCACTCACACCCACCCCGTGACACCACTCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGT CCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGA CACCACTCGCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACC ACTCGCACCCCTCCCGTGACACCACTCGCACCCGTCCCGTGACACCACTC GCACCCGTCCCGAGACACCACTCGCACCCGTCCCGAGACACCACTCGCAC CCGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCG TCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCC GAGACATCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAG ACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACAC CACTCACACCCGTCCCGTGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	903594	T T	TGGTGACC others(596): Show TGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGGGTG ACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGCGTGGTGGTGACCT CTGCATCGCCCACAGGACGCCTATCTCTGCTGTGTGGGTGGTGACCTTTG CACTGCCCGTGGGGGACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCA CTGCCTGTGGGGACGCCCGTCTCTGCTGTGTGGTGGTGACCTCTGCATCG CCCACAGGACGCCTGTCTCTGCTGCGTGGGGTGACCTCTGCATCGCCCAC AGGACGCCTGTCCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCCACAGG ACGCCTGTCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCCACAGGACGC CTGTCTCTGCTGTGTGGTGGTGACCTTTGCACTGCCCGTGGGGACGCCTG TCTCTGCTGCGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCTGTCT CTGCTGTGTGGTGGTGACCTCTGCACTGCCTGTGGGGACGCCCGTCTCTG CTGCGTGGTGGTGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGC GTGG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0141 a0002c0007t0001g0141	1	171	0.0058	603	c.663 others(620): Show c.663+7336_663+7337insCCACGCAGCAGAGACAGGCGTCCTGTGG GCGATGCAGAGGTCACCACCACGCAGCAGAGACGGGCGTCCCCACAGGCA GTGCAGAGGTCACCACCACACAGCAGAGACAGGCGTCCCCACAGGCAGTG CAGAGGTCACCACCACGCAGCAGAGACAGGCGTCCCCACGGGCAGTGCAA AGGTCACCACCACACAGCAGAGACAGGCGTCCTGTGGGCAGTGCAGAGGT CACCACCACGCAGCAGAGACAGGCGTCCTGTGGGCAGTGCAGAGGTCACC ACCACGCAGCAGAGGACAGGCGTCCTGTGGGCGATGCAGAGGTCACCCCA CGCAGCAGAGACAGGCGTCCTGTGGGCGATGCAGAGGTCACCACCACACA GCAGAGACGGGCGTCCCCACAGGCAGTGCAGAGGTCACCACCACGCAGCA GAGACAGGCGTCCCCCACGGGCAGTGCAAAGGTCACCACCCACACAGCAG AGATAGGCGTCCTGTGGGCGATGCAGAGGTCACCACCACGCAGCAGAGAC AGGCGTCCTGTGGGCGATGCAGAGGTCACCCCACGCAGCAGAGACAGGCG TCCTGTGGGCGATGCAGAGGTCACC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
MICAL3_chr22_17782649_18029561	17876764	T T	TAGGGAGC others(596): Show TAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGG AGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTT AGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGA GGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTGAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAG GTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTAT GGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGG GAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGT TAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGG AGGTTAGGGAGATTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTG AGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGGA GGTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0206 a0002c0003t0004g0206	1	270	0.0037	603	c.224 others(622): Show c.2242-4742_2242-4741insCACCTCCCTAACCTCCATAACCTCCC TCACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCATAACT TCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCAT AACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAAGCTCCCTAACCT CCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTA ACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTGC CATAACCTCCATAACCTCCCTAACCTCCATAACTGCCATAACCTCCATAA CCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCC ATAAGCTCCCTCACCTCCATAACCTCCCTAACCTCCATAACCTCCATAAC TTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACC TCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTT AACCTCCCTAACCTCCATAAGCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876811	G G	GGGAGGTT others(596): Show GGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAG ATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTGAG GGAGGTTAAGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATG GCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGT TAGGGAGCTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGG AGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAAGTT ATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAG GGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGG TTAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	233	0.0043	603	c.224 others(622): Show c.2242-4789_2242-4788insATAACCTCCCTAACCTCCATAACCTC CCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAAC CTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCATAACCTCCATAACTTCCCTAACCTCCATAATC TCCCTAACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCT AACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCT CCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACCTCCCTA ACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTC CATAAGCTCCCTAACCTCCTTAACCTCCCTCACCTCCATAAGCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCC ATAACCTCCATAACCTCCCTAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876845	T T	TATGGAGG others(596): Show TATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTT ATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGA GGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGA GGGAGGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAG GGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGG TGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGG GAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGT GAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGGG AGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTG AGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGA GGTG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0122 a0009c0014t0002g0123 a0009c0014t0002g0122 a0009c0014t0002g0123	2	258	0.0078	603	c.224 others(622): Show c.2242-4823_2242-4822insCACCTCCCTAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACC TCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCAT AACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCT CCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATA ACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTC CCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCC CTCACCTCCATAACCTCCCTAACCTCCCTCACCTCCCTAACCTCCCTAAC CTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCATAACCTCCC TCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACC TCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCAT AACCTCCATAACTTCCCTAACCTCCAT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17876926	T T	TAGGGAGG others(596): Show TAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGG AAGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTG AGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGA GGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAAGTTAGGGAAGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAG GTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTAG GGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGG TGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGG GAAGTTAGGGAAGTTAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGT TATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAAGTTAGGG AGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGATT ATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGA GGTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0151 a0004c0007t0003g0151	1	258	0.0039	603	c.224 others(622): Show c.2242-4904_2242-4903insCACCTCCCTAACCTCCATAACTTCCC TAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCCTAACC TCCATAACCTCCCTCACCTCCATAACCTCCCTAACTTCCCTAACCTCCCT AACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCT CCATAACCTCCCTAACTTCCCTAACTTCCCTAACCTCCATAACCTCCCTA ACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTAACTTCCCTAACCTCCCTAA CCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCC ATAACCTCCCTAACTTCCCTAACTTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCA TAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACC TCCCTCACCTCCATAACCTCCCTAACTTCCCTAACCTCCATAACCTCCCT CACCTCCCTAACCTCCATAACCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877202	G G	GGTTAGGG others(596): Show GGTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTGA GGGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTAAGGAG GTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAT GGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATG GAGGTTAGGGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGT TATGGAGGTTAGGGAGATTATGGAGGTTAGGGAAGTTATGGAGGTTATGG AGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTT AGGGAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAAGTTA GGGAGGTTATGGAGGTTATGGAGGTGAGGGAGGTTAGGGAGGTTAGGGAA GTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAG GGAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0226 a0001c0001t0007g0226	1	233	0.0043	603	c.224 others(622): Show c.2242-5180_2242-5179insTTCCCTAACCTCCATAATCTCCCTAA CCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTCCCTAACCTCC CTCACCTCCATAACCTCCATAACCTCCCTAACTTCCCTAACCTCCATAAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TAACTTCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCT AACCTCCATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACTT CCCTAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCCTTA ACCTCCCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTC CATAATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACCTCCCTAA CCTCCCTAACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCC ATAATCTCCCTAACCTCCCTAACCTCCCTCACCTCCATAACCTCCCTCAC CTCCATAACCTCCCTCACCTCCCTAAC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(596): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCA GGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAG GGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGG GGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGTGGAGGG GAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGGG GGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAG GGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAG GAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGG GGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGG GTGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18964.hp2 NA18994.hp1 others(1): Show NA18952.hp1 NA18964.hp2 NA18994.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0191 others(1): Show a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0191 a0001c0001t0003g0256	4	11	0.3636	603	c.250 others(618): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCC TCCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCC CTCCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTC CCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTT CCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCT TTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(596): Show AAGGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGA AGGAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGC AGGGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAA GGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAG GGGGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGGGGAGGTGGAGG GGAGGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGG GGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGA GGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGA GGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAG GGGGAGGGAAGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGG GTGG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0187 a0001c0001t0003g0187	1	8	0.1250	603	c.250 others(618): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCC CTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCCC TCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCTCCCT CCCTTCCCTCCCCCTCCCCCTCCCCCTCTTCCCTCCCCCTCCCCTCCCCC TCCCCCCCTCCCCCTCCCCCCTCCCCTCCACCTCCCCCCTACCCTCCCCC TCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCC CCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCC CCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTC CCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTT TCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCC TCCTTCCCCCTCCTTCCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AGGGAGGA others(596): Show AGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGGGAAAGAGAAAG GGAG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0176 a0001c0001t0005g0176	1	64	0.0156	603	c.225 others(620): Show c.225-2393_225-2392insGGAGGAGAGAGAGGGAAAGAGAGAGAGA AGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAAAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGG GAGGAGAGGGAAAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(596): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGC CCTCCTGCCCTGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCAGGATGGAGGTGGGGGGGGGTCAGTCCCCCCGCCCGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCAC GTCC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA20805.hp1 NA19077.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0034 a0001c0001t0005g0048 a0001c0001t0002g0034 a0001c0001t0005g0048	2	33	0.0606	603	c.241 others(622): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGA CTGACCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(596): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCTGTACGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGC CCTCCTGCCCTGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCAGGATGGAGGTGGGGGGGGGTCAGTCCCCCCGCCCGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCAC GTCC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0019 a0001c0005t0002g0019	1	32	0.0313	603	c.241 others(622): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGA CTGACCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GTACAGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(596): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGTGGGGGGGTCGGC CCTCCTGCCCTGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCAGGATGGAGGTGGGGGGGGGTCAGTCCCCCCGCCCGGCCAGCCGCC CCATCCGGGAGGGAGGTGGGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCAC GTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG01123.hp2 others(16): Show HG00280.hp1 HG00423.hp1 HG01123.hp2 HG01255.hp1 HG01358.hp1 HG01928.hp2 HG01952.hp1 HG03491.hp1 HG03492.hp2 NA18945.hp2 NA18949.hp2 NA18950.hp1 NA18961.hp1 NA18964.hp2 NA18970.hp2 NA18994.hp1 NA19003.hp1 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0019 a0001c0001 a0001c0011 a0001c0019	a0001c0001t0002 a0001c0001t0005 a0001c0011t0005 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0011t0005 a0001c0019t0002	a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0027 others(16): Show a0001c0001t0002g0018 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0005g0044 a0001c0011t0005g0046 a0001c0011t0005g0052 a0001c0019t0002g0041	19	50	0.3800	603	c.241 others(622): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGA CTGACCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGG GCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCC CGGACGGGGCGGCTGGCAGGGCAGGAGGGCCGACCCCCCCACACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACAGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(596): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATGTATGTAT ACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGT ATACCGTATATATACACAGTATGTATACCGTATATATACACAGTATGTAT ACTGTGTATATATACACAGTATGTATACTGCATACAGTATGTATACTGTA TACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGT ATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACACTATA CAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATAT ACACAATACAGTATGTATACTGTATATATACACAATACAGTATGTATACT GTATATATACACAATACAGTATGTATACTGTATATATACACAATACAGTA TGTATACTGTATATATACACACAGTATGTATACTGTATATATACACACAG TATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACAC AGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	118	0.0085	603	c.-75 others(622): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATACA GTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTA TATATACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGT ATTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTATA CATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGTAT ACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGTATGCA GTATACATACTGTGTATATATACACAGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACATACAGTATACATACATACAGTATACATACATACAGTATACATG CTGTATACAGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(596): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACA GAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGC CCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTC CCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCC CCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGA GCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCC CAGTCCCCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTC CCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCA GGCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03139.hp2 HG03579.hp1 others(1): Show HG02055.hp1 HG03139.hp2 HG03579.hp1 NA21309.hp2	a0001 a0006 a0016 a0001 a0006 a0016	a0001c0025 a0006c0030 a0016c0070 a0001c0025 a0006c0030 a0016c0070	a0001c0025t0016 a0006c0030t0014 a0016c0070t0004 a0001c0025t0016 a0006c0030t0014 a0016c0070t0004	a0001c0025t0016g0170 a0006c0030t0014g0171 a0006c0030t0014g0173 others(1): Show a0001c0025t0016g0170 a0006c0030t0014g0171 a0006c0030t0014g0173 a0016c0070t0004g0172	4	11	0.3636	603	c.140 others(620): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGG GGAGGGACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAG GGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGAC TGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(596): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAG TCCGTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCC TCCCCACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCC CAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCC CCCCAGTCCCTCCCCACAGAGCCCCCCCAGTCCCTCCCCAGAGCCCCCCA GTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCC CTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCC CACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAG CCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCC AGTCCCCCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTC CCTCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCA GGCT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0010 a0001c0003t0008g0010	1	8	0.1250	603	c.140 others(620): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTG GGGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCT CTGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGG GGAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGG GACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGG GGGGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGG GGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCT CTGTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGG GGAGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAG GGACTGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGAC TGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(596): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATA GTTTTAAACTATATAGTTTATATATAGTTTAAAACTATATAGTTTATATA GTTTAAAACTATATAGTTTATATAGTTTAAAACTAGTTTATATAGTTTAA AACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATAGTT TTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTAA ACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGT AGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAACT ATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATA GTTTTAAACTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTT AAACTATATAGTTCATGTAGTTTTAAACTATATAGTTTAAAACTATATAG TTTATGTAGTTTTAAACTAGTTTATATTTTTTTATATAGTTTAAACTATA TAGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	38	0.0263	603	c.342 others(622): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAG TTTAAAACTATATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAA AACTACATAAACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAA CTACATAAACTATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGT TTAAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATAT AGTTTAAAACTATATAAACTATATAGTTTTAAACTATATAAACTAGTTTT AAACTATATAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAA ACTATATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTTTA AAACTATATATAAACTATATAGTTTAAAACTATATATAAACTATATAGTT TAAAACTATAAACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCG others(596): Show TCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCTGCCT CCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCC TGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCGCGGCCTC CTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCG CTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTC TCCCCCCTGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCT CCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCCTCTCCCCC CTGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCCTGCCTCCTCCT CTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCC TCCTCCTCTCCCCCCGGCCTCCTCCTCTCCCCCCGGCCTCCTCCTCTCCC CCCGGCCTCCTCCTCTCCCCCCTGCCTCCTCCTCTCCCCCTGCCTCCTCC TCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	72	0.0139	603	c.360 others(622): Show c.360+30442_360+30443insGAGAGGAGGAGGCAGGGGGAGAGGAG GAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGG AGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGC CGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGG AGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGG GAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGGGGGGAGAGGAGGAGG CCGGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGAGAGGAGGAGGCAGCGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGGCCGCGGGGAGAGGAGGAG GCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAG GAGGAGGCAGGGGGGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGG GGAGAGGAGGAGGCAGGGGGAGAGGAGGAGGCAGGGGGGAGAGGAGGAGG CCGGGGGGAGAGGAGGAGGCCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR6J1_chr14_22625929_22649352	22637553	G G	GCCCGGCC others(596): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGTGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCG CCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCGGCCGCCCAGTCCGGG AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCGGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGATGTGGGGGGATCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0297 a0002c0002t0020g0297	1	360	0.0028	603	c.-27 others(620): Show c.-27-2716_-27-2715insGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAG GCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGGCGGCTGGCCAG GTGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGATCCCCCCACATCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGC GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACTGGGCGGCCGGCCAGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCCGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCAC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCTCC CTCCCGGACGGGGCGGCTGGCCGGG	OR6J1	ENSG00000255804.2	transcript	ENST00000540461.2	protein_coding	1/1			chr14	TogoVar
RAB11FIP3_chr16_420649_528011	468269	A A	AGTCAGGG others(596): Show AGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGA GGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCA GGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCG TCAGGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGG AGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCATCAGGGAGGAGGTGC TGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTC AGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAG GAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAG GTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTG GGGC	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18947.hp2 NA18955.hp1 others(3): Show HG01261.hp2 NA18947.hp2 NA18955.hp1 NA18975.hp1 NA19077.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0018 a0001c0002 a0002c0018	a0001c0002t0009 a0001c0002t0026 a0002c0018t0009 a0001c0002t0009 a0001c0002t0026 a0002c0018t0009	a0001c0002t0009g0259 a0001c0002t0009g0274 a0001c0002t0009g0275 others(3): Show a0001c0002t0009g0259 a0001c0002t0009g0274 a0001c0002t0009g0275 a0001c0002t0009g0284 a0001c0002t0026g0169 a0002c0018t0009g0092	6	46	0.1304	603	c.809 others(620): Show c.809-2991_809-2990insTGCTGGGGCGTCAGGGAGGAGGTGCAGG GAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTC AGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATG CTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGAGGTCCTGGGGCATCAGGGAGGAGGTGCTGGGGCGTCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCT GGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCA GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468269	A A	AGTCAGGG others(596): Show AGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGA GGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCA GGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCG TCAGGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGG AGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCC TGGGGCATCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTC AGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAG GAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAG GTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTG GGGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	41	0.0244	603	c.809 others(620): Show c.809-2991_809-2990insTGCTGGGGCGTCAGGGAGGAGGTGCAGG GAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTC AGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATG CTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCATCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCT GGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCA GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468269	A A	AGTCAGGG others(596): Show AGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGA GGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCA GGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCG TCAGGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGG AGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCC TGGGGCATCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAG GAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAG GTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTG GGGC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	41	0.0244	603	c.809 others(620): Show c.809-2991_809-2990insTGCTGGGGCGTCAGGGAGGAGGTGCAGG GAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTC AGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATG CTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCATCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCT GGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCA GGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	468269	A A	AGTCAGGG others(596): Show AGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGA GGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCA GGGGCGTCAGGGAGGAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCG TCAGGGAGGAGATGCTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGG AGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGG TGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCC TGGGGCATCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGC GTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGG GAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAG GAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTG CAGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTG GGGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03540.hp1 HG03471.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0263 a0001c0001t0011g0264 a0001c0001t0011g0263 a0001c0001t0011g0264	2	42	0.0476	603	c.809 others(620): Show c.809-2991_809-2990insTGCTGGGGCGTCAGGGAGGAGGTGCAGG GAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGTGCAGGGGCGTC AGGGAGGAGGTGCAGGGGCCTCAGGGAGGAGGTGCAGGGGCGTCAGGGAG GAGGTGCAGGGAAGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATG CTGGGACGTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGG CGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAG GGAGGAGGTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCATCAGGGA GGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGT GCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGGAGGTCCT GGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCG TCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCAGGGGCGTCAGGG AGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGG AGGTGCAGGGGCGTCAGGGAGGAGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GAGGGGAA others(596): Show GAGGGGAAGGCGTGGGGAGGAGGGGAAGGCATGGGGAGGAGGGGGCCACA TGGGGGAGGGGCCGCGGGCCGCGAGGGAGGAGGGGGGCCGCGTGGGGAGG AGGGGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTT GGGGAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGG GCCACATGGGGAGGAGGCGCCGCGTGGGGAGGAGGGGGCCGTGAGGAGAG GAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGAGGGGGGGGGG CGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGA GGGGGGCCGTGAGGGGAGGAGGGGGCCGCGTGGGGAGAAGGGGGGCCGCG TGGGGAGGGAGGGGGCCGTGTGGGGAGGAGAGGGCCGCGTGGGGAGGAGG GGGCCGCGTGGGGAGGAGGGCGCCGTGTGGGGGAGGAGGGGGTGGGGGGG GGCGCGTGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGG GAGGAGGGGGCCGCGCGTGGGGAGGAGGGCGCCGTGTGGGGAGGAGGGGG CCGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	3	0.3333	603	c.159 others(620): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCACACGGCGCCC TCCTCCCCACGCGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCAC GCGGCCCCCTCCTCCCCACACGCGCCCCCCCCCACCCCCTCCTCCCCCAC ACGGCGCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCTCTCC TCCCCACACGGCCCCCTCCCTCCCCACGCGGCCCCCCTTCTCCCCACGCG GCCCCCTCCTCCCCTCACGGCCCCCCTCCTCCCCACACGGCGCCTCCTCC CCACGCGGCCCCCTCCTCCCCACGCGCCCCCCCCCCTCCTCCCCACGCCT TCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCC CACGCGGCGCCTCCTCCCCATGTGGCCCCCTCCTCCCCACGCGGCTCCCT CCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCTCCCCACGGG GCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGCGGCCCCCCTCCTC CCTCGCGGCCCGCGGCCCCTCCCCCATGTGGCCCCCTCCTCCCCATGCCT TCCCCTCCTCCCCACGCCTTCCCCT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RPH3AL_chr17_207389_357807	254396	G G	GTTCCATC others(596): Show GTTCCATCCCTAGGAATGGGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG TCGCACGGCGTCTGTCCTGTTCCATCCCTAGGAATGTGACTACCCTACGA ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCATCCCTAGGA ATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTTACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	51	0.0196	603	c.439 others(620): Show c.439-7112_439-7111insAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTAACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAACAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTTCGTAGGGTAGTCACATTCCTAGG GATGGAACAGGACAGACGCCGTGCGACTCCCCTCATAGGAAGTACGTAGG GTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAG GGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAG GGTAGTCCCATTCCTAGGGATGGAA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254613	C C	CGTGACTA others(596): Show CGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATAAGGGGAG CTGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCTGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AATGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATAAGGGG AGCTGCACGGTGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTAC GTACTTCCTATGAGGGGAGTCGCACGGTGTCTGTCCTTTTCCGTCCCTAG GAAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0076 a0001c0001t0025g0076	1	99	0.0101	603	c.439 others(620): Show c.439-7329_439-7328insATTCCTAGGGACGGAAAAGGACAGACAC CGTGCGACTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA CGGAAAAGGACAGACACCGTGCAGCTCCCCTTATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTTA TAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ACGGAAAAGGACAGACACCGTGCAGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACGTTCCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGG GACGGAAAAGGACAGACACCGTGCAGCTCCCCTTATAGGAAGTACGTAGG GTAGTCACATTCCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCT TATAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254654	C C	CGTCTGTC others(596): Show CGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCCTA TGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACT ACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCCTTTTCCA TCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACG GCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCCT ATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCCGTCCCTAGGAATGTGAC TACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCC ATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCAC GGTGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTC CATCCCTAGGAATATGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0054 a0005c0009t0001g0054	1	110	0.0091	603	c.439 others(620): Show c.439-7370_439-7369insACCGTGCGGCTCCCCTCATAGGAAGTAC GTAGGGTAGTCATATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCT CCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACAGAACAGG ACAGACACCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATT CCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTCATAGGAAGTA CGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGC TCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAACAG GACAGACACCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGT TCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGT ACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGA CTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAA GGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACG TTCCTAGGGACGGAAAAGGACAGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	256053	C C	CCGCACGG others(596): Show CCGCACGGCGTCTGCCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT GCTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGG AATGTGACTACCCTACGTACTTCCTATGAGGGCAGCCGCACGGCGTCTGT CCTTTTCCGTCCCTGGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTAC GTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAG GAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTG TCCTTTTCCATCCCTGGGAATGTGACTACCCTACGTACTTCCTATGAGGG GAGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	128	0.0078	603	c.439 others(620): Show c.439-8769_439-8768insACTCCCCTCATAGGAAGTACGTAGGGTA GTCACATTCCCAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCAT AGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGA CGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCCAGGGACGGAAAAGGACAGACGCCGTGCGGCTGCCCTCA TAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGG ACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGAC ACCGTGCAGCTCCCCTCATAGGAAGCACGTAGGGTAGTCACATTCCTAGG GATGGAAAAGGGCAGACGCCGTGCG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257206	T T	TCCTTTTC others(596): Show TCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGG GAGTCGCACGGCTTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTA CGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCCTTTTCCGTCCCTA GGAATGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCT GTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGG GGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCT ACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCT AGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTC TGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATAAG GGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCC TACGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCC TAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGT CTGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	127	0.0079	603	c.439 others(620): Show c.439-9922_439-9921insGCAGACGCCGTGCGGCTCCCCTCATAGG AAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACACCGT GCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGG AAAAGGACAGACACCGTGCAGCTCCCCTTATAGGAAGTACGTAGGGTAGT CACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAG GAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACACCG TGCAGCTCCCCTTATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATG GAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAG TCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATA GGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACAGACACC GTGCAGCTCCCCTTATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGAT GGAAAAGGACAGAAGCCGTGCGACTCCCCTCATAGGAAGTACGTAGGGTA GTCACATTCCTAGGGATGGAAAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257226	T T	TGTGACTA others(596): Show TGTGACTACCCTACGTGCTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCTGTCCCTAGGA ATGTGACTACCCTACGCACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCTGTCCCTAGG AATGTGACTACCCTACGCACTTCCTATGAGGGGAGCCGCACGGCGTCTGT CCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGG AGCCGCACGGCGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTAC GCACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTTCCGTCCCTAG GAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	73	0.0137	603	c.439 others(620): Show c.439-9942_439-9941insGTTCCTAGGGACGGAACAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTGCGTAGGGTAGTCACATTCCTAGGGA CAGAACAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTGCGTAGGGTAGTCACATTCCTAGGGACAGAACAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCACGTTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTGCGTAGGGTAGTCACATTCCTAGGGACAGAACAGGACAGAC GCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGG GACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGG GTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCT CATAGGAAGCACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257937	C C	CGTCTGTC others(596): Show CGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCCTA TGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGGGACT ACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCA TCCCTAGGAATGGGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACG GTGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCT ATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATATGAC TACCCTACGTACTTCCTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCC ATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGTGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTC CATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	131	0.0076	603	c.439 others(622): Show c.439-10653_439-10652insACCGTGCGGCTCCCCTCATAGGAAGT ACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGG CTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAA GGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACG TTCCTAGGGATGGAAAAGGACAGACACCGTGCGGCTCCCCTCATAGGAAG TACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACACCGTGCA GCTCCCCTCATAGGAAGTACGTAGGGTAGTCATATTCCTAGGGATGGAAA AGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCAC GTTCCTAGGGATGGAAAAGGACAGACACCGTGCGGCTCCCCTCATAGGAA GTACGTAGGGTAGTCCCATTCCTAGGGATGGAAAAGGACAGACGCCGTGC GGCTCCCCTCATAGGAAGTACGTAGGGTAGTCCCATTCCTAGGGATGGAA AAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCA CGTTCCTAGGGACGGAAAAGGACAGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	257997	C C	CGCACGGC others(596): Show CGCACGGCGTCTGTCCTTTTCCATCCGTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAA TGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTATAAGGGGAG CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATAAGGGGAGCCGCACGGCGTCTGTCCTGTTCCGTCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGA GCCGCACGGCGTCTGTCCTTTTCCATCCGTAGGAATGTGACTACCCTACG TACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGG AACGTGACTACCCTACGTACTTCCTATGAGGGGACCTGCACGGCGTCTGT CCTTTTCCATCCCTAGGAATGTGACTACCCTACGCACTTCCTATGAGGGG AGCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	44	0.0227	603	c.439 others(622): Show c.439-10713_439-10712insAGCTCCCCTCATAGGAAGTGCGTAGG GTAGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCAGGTCCCCT CATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGA CGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAC GGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAG GGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCC TCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGACGGAACAGGACAG ACGCCGTGCGGCTCCCCTTATAGGAAGTACGTAGGGTAGTCACATTCCTA GGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTTATAGGAAGTACGTA GGGTAGTCACATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCC CTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGGACA GACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCT ACGGATGGAAAAGGACAGACGCCGTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13934322	G G	GTATTCCA others(596): Show GTATTCCATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATATTCCATATA TATATATATTCCATATATATATATATTCCATATATATATATATATTCCAT ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	283	0.0035	603	c.115 others(620): Show c.115-2552_115-2551insTATATATATGGAATATATATATATGGAA TATATATATATGGAATATATATATATGGAATATATATATATGGAATATAT ATATATGGAATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATATGGAATATATATATATGGAATATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATGG AATATATATATATATATGGAATATATATATATATGGAATATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATGGAATA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar

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