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
SYK_chr9_90796819_90903549	90884884	T T	TATGTGTA others(222): Show TATGTGTATATGTATATATACATATATACACATATGTGTATATATACATA TATACATATACACCTATGTGTATATATAACACATATATACACCTATGTGT ATATATAACACATATATACACCTATGTGTATATATAACACATATATACAC CTATGTGTATATATAACACATATATACACCTATGTGTATATATACATATA TACATATACACATATGTGTATATATAACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0019 a0001c0001t0006g0019	1	376	0.0027	229	c.158 others(248): Show c.1582-2863_1582-2862insGTGTATATGTATATATACATATATAC ACATATGTGTATATATACATATATACATATACACCTATGTGTATATATAA CACATATATACACCTATGTGTATATATAACACATATATACACCTATGTGT ATATATAACACATATATACACCTATGTGTATATATAACACATATATACAC CTATGTGTATATATACATATATACATATACACATATGTGTATATATAACA CAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
TENT5A_chr6_81740730_81757681	81740909	A A	ATATAATA others(222): Show ATATAATATGTATCATATTATATACTATATAATATGTATCATATTATATA CTATATAATATGTATCATATTATATACTATATAATATGTATCATATTATA TACTATATAATATGTATCATATTATATACTATATATGTATCATATTATAT ACTATATAATATGATACATATTATATAGTATATAATATGTATCATATTAT ATACTATATAATGTGTATCATATTATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03195.hp1 HG02976.hp1 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0016 a0003c0003t0008g0016	2	446	0.0045	229	c.87 others(240): Show c.8785_*8786insCTATATAATATGATACACATTATATAGTATATAA TATGATACATATTATATACTATATAATATGTATCATATTATATAGTATAT AATATGATACATATATAGTATATAATATGATACATATTATATAGTATATA ATATGATACATATTATATAGTATATAATATGATACATATTATATAGTATA TAATATGATACATATTATATAGTATATAATATGATACATATTATA	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4820		chr6	TogoVar
TF_chr3_133741393_133801641	133785494	T T	TGGGGGGG others(222): Show TGGGGGGGGGTCAGCCCCCCTGCCCGGCCAGTGGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC CCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGTGTCAGCCCCACGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0191 a0001c0006t0191	a0001c0006t0191g0062 a0001c0006t0191g0062	1	402	0.0025	229	c.68 others(240): Show c.6882_*6883insGTCAGCCCCCCTGCCCGGCCAGTGGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGTGTCAGCC CCACGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGG	TF	ENSG00000091513.16	transcript	ENST00000402696.9	protein_coding	17/17	6883	INFO_REALIGN_3_PRIME	chr3	TogoVar
THSD4_chr15_71110471_71788383	71769140	T T	TGGGGGGG others(222): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT TGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03130.hp2 HG02895.hp1 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0016 a0001c0003t0016 a0001c0002t0016 a0001c0003t0016	a0001c0002t0016g0084 a0001c0003t0016g0052 a0001c0002t0016g0084 a0001c0003t0016g0052	2	116	0.0172	229	c.277 others(248): Show c.2770-1918_2770-1917insGTCGGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGG	THSD4	ENSG00000187720.15	transcript	ENST00000261862.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr15	TogoVar
TIAM2_chr6_154990315_155262723	155142232	T T	TAAGATTG others(222): Show TAAGATTGATTCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGT GAGCCGGGATAGCACCACTGCAGTCCAGCTTGGGCGAAAGAGTGAGACTC CGTCTCAAAAAAAAACAAACAAACAAACAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19066.hp1 NA19074.hp2 NA18947.hp1 NA19066.hp1 NA19074.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0009 a0007c0013t0001 a0007c0013t0009	a0007c0013t0001g0010 a0007c0013t0001g0023 a0007c0013t0009g0071 a0007c0013t0001g0010 a0007c0013t0001g0023 a0007c0013t0009g0071	3	230	0.0130	229	c.163 others(248): Show c.1631-2364_1631-2363insCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGG CGGAGCTTGCAGTGAGCCGGGATAGCACCACTGCAGTCCAGCTTGGGCGA AAGAGTGAGACTCCGTCTCAAAAAAAAACAAACAAACAAACAAAAGATTG ATT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM255B_chr13_113754226_113821995	113811133	C C	CCCTGGGT others(222): Show CCCTGGGTCTGTGGGGTGGGGGCCCGTGAGAGTGGTCCTGGGTCTGTGGG GGACCCGTGAGAGCGGTCCTGGGTCTGTGGGGGGGCCGGTGAGAGTGGTC CTGGGTCTGTGGGGGGGGCCGGTGAGAGTGGTCCTGGGTCTGTGGGGGGG CCGGTGAGAGTGGTCCTGGGTCTGTGGGGTGGGGGCCCGTGAGAGTGGTC CTGGGTCTGTGGGGGACCCGTGAGAGTGGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03225.hp2 HG02738.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0010 a0001c0002 a0002c0010	a0001c0002t0060 a0002c0010t0048 a0001c0002t0060 a0002c0010t0048	a0001c0002t0060g0102 a0002c0010t0048g0035 a0001c0002t0060g0102 a0002c0010t0048g0035	2	260	0.0077	229	c.814 others(244): Show c.814-553_814-552insGACCCGTGAGAGCGGTCCTGGGTCTGTGGG GGGGCCGGTGAGAGTGGTCCTGGGTCTGTGGGGGGGGCCGGTGAGAGTGG TCCTGGGTCTGTGGGGGGGCCGGTGAGAGTGGTCCTGGGTCTGTGGGGTG GGGGCCCGTGAGAGTGGTCCTGGGTCTGTGGGGGACCCGTGAGAGTGGTC CTGGGTCTGTGGGGTGGGGGCCCGTGAGAGTGGTCCTGGGTCTGTGGGG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113811133	C C	CCCTGGGT others(222): Show CCCTGGGTCTGTGGGGTGGGGGCCCGTGAGAGTGGTCCTGGGTCTGTGGG GGGACCCGTGAGAGCGGTCCTGGGTCTGTGGGGGGGCCGGTGAGAGTGGT CCTGGGTCTGTGGGGGGGCCGGTGAGAGTGGTCCTGGGTCTGTGGGGGGG CCGGTGAGAGTGGTCCTGGGTCTGTGGGGTGGGGGCCCGTGAGAGTGGTC CTGGGTCTGTGGGGGACCCGTGAGAGTGGT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0216 a0001c0002t0040g0216	1	260	0.0039	229	c.814 others(244): Show c.814-553_814-552insGGACCCGTGAGAGCGGTCCTGGGTCTGTGG GGGGGCCGGTGAGAGTGGTCCTGGGTCTGTGGGGGGGCCGGTGAGAGTGG TCCTGGGTCTGTGGGGGGGCCGGTGAGAGTGGTCCTGGGTCTGTGGGGTG GGGGCCCGTGAGAGTGGTCCTGGGTCTGTGGGGGACCCGTGAGAGTGGTC CTGGGTCTGTGGGGTGGGGGCCCGTGAGAGTGGTCCTGGGTCTGTGGGG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113816133	T T	TGGGGAGA others(222): Show TGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGG CAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTC AGGGACACGAGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTG GATGGGGAGAGGTGCAGTTACTGGTCAGGGACACGAGTTCTTTTCGGGGA GGCAAGTGTGTTCTAAGCGTGTTCTGGATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01081.hp2 others(10): Show HG00140.hp2 HG00639.hp2 HG01081.hp2 HG01099.hp1 HG01123.hp1 HG01516.hp2 HG02922.hp2 HG03195.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0002c0018 a0001c0001 a0002c0004 a0002c0018	a0001c0001t0073 a0002c0004t0004 a0002c0004t0014 others(4): Show a0001c0001t0073 a0002c0004t0004 a0002c0004t0014 a0002c0004t0139 a0002c0004t0142 a0002c0004t0144 a0002c0018t0004	a0001c0001t0073g0134 a0002c0004t0004g0004 a0002c0004t0004g0037 others(10): Show a0001c0001t0073g0134 a0002c0004t0004g0004 a0002c0004t0004g0037 a0002c0004t0004g0042 a0002c0004t0004g0043 a0002c0004t0004g0044 a0002c0004t0014g0005 a0002c0004t0014g0033 a0002c0004t0014g0226 a0002c0004t0139g0038 a0002c0004t0142g0005 a0002c0004t0144g0045 a0002c0018t0004g0213	13	260	0.0500	229	c.42 others(240): Show c.4245_*4246insCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGG CAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTC AGGGACACGAGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTG GATGGGGAGAGGTGCAGTTACTGGTCAGGGACACGAGTTCTTTTCGGGGA GGCAAGTGTGTTCTAAGCGTGTTCTGGATGGGGGAGAGGTGCAGT	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4246	INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113816133	T T	TGGGGAGA others(222): Show TGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGG CAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTTACTGGTC AGGGACACGAGTTCTTTTCGGGGAGGCAAGTGTGTTCGCAGCGTGTTCTG GATGGGGAGAGGTGCAGTTACTGGTCAGGGACACGAGTTCTTTTCGGGGA GGCAAGTGTGTTCTAAGCGTGTTCTGGATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0145 a0002c0004t0145	a0002c0004t0145g0034 a0002c0004t0145g0034	1	260	0.0039	229	c.42 others(240): Show c.4245_*4246insCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGG CAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTTACTGGTC AGGGACACGAGTTCTTTTCGGGGAGGCAAGTGTGTTCGCAGCGTGTTCTG GATGGGGAGAGGTGCAGTTACTGGTCAGGGACACGAGTTCTTTTCGGGGA GGCAAGTGTGTTCTAAGCGTGTTCTGGATGGGGGAGAGGTGCAGT	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4246	INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113816285	T T	TGGGGAGA others(222): Show TGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGGGAGG CAAGTGTGTTTGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTC AGGGACACGGGTTCTTTTCGGGGAGGCAAGCGTGTTTGCAGCGTGTTCTG GATGGGGAGAGGTGCAGTTACTGGTCAGGGACACGAGTTCTTTTCGGGGA GGCAAGCGTGTTTGCAGCGTGTTCTGGATG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02451.hp2 HG02109.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0173 a0001c0001t0134 a0001c0001t0173	a0001c0001t0134g0030 a0001c0001t0173g0025 a0001c0001t0134g0030 a0001c0001t0173g0025	2	260	0.0077	229	c.44 others(240): Show c.4402_*4403insCTCAGGGACACGGGTTCTTTTCGGGGAGGCAAGT GTGTTTGCAGCGTGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGA CACGGGTTCTTTTCGGGGAGGCAAGCGTGTTTGCAGCGTGTTCTGGATGG GGAGAGGTGCAGTTACTGGTCAGGGACACGAGTTCTTTTCGGGGAGGCAA GCGTGTTTGCAGCGTGTTCTGGATGGGGGAGAGGTGCAGTCACTG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4403	INFO_REALIGN_3_PRIME	chr13	TogoVar
TP53AIP1_chr11_128930370_128947871	128930637	G G	GGGGTTAG others(222): Show GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGG CTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	466	0.0022	229	c.49 others(240): Show c.4953_*4954insTAGGCCTCCCTAACCCCTGGCCTCCCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTC CCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4732		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GTTAGGGA others(222): Show GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTG GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	466	0.0022	229	c.49 others(240): Show c.4905_*4906insACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC CGGCCTCCCTAACCCTAGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAAC CCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GTTAGGGA others(222): Show GTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTG GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCTAGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 NA18946.hp1 NA18951.hp2 others(3): Show HG00558.hp2 NA18946.hp1 NA18951.hp2 NA18970.hp2 NA18975.hp1 NA19055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0020 a0002c0002t0007g0145 a0002c0002t0002g0020 a0002c0002t0007g0145	6	466	0.0129	229	c.49 others(240): Show c.4905_*4906insACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCC TAGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAAC CCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TSNARE1_chr8_142207080_142408182	142256385	T T	TCACCATC others(222): Show TCACCATCATCACCATCACCACCACCACTGTCACCATCACCATCATCATG GCTGTCACCACCATCATCACCATCACCACCACCATGACCATCACCATCAA CACCATCACCACCACCACCAGTCACCATCACCACCACCATCATCACCACC ACCATCACCATCACTATCACCACCACCATCACCACCATCACTATCACCAC CACCACCACCATCACCATAATTCCTACCAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01952.hp1 HG02273.hp1 HG01943.hp2 HG01952.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0013 a0002c0002 a0002c0013	a0002c0002t0003 a0002c0013t0003 a0002c0002t0003 a0002c0013t0003	a0002c0002t0003g0119 a0002c0002t0003g0215 a0002c0013t0003g0214 a0002c0002t0003g0119 a0002c0002t0003g0215 a0002c0013t0003g0214	3	238	0.0126	229	c.144 others(250): Show c.1446+18395_1446+18396insGTGGTAGGAATTATGGTGATGGTG GTGGTGGTGGTGATAGTGATGGTGGTGATGGTGGTGGTGATAGTGATGGT GATGGTGGTGGTGATGATGGTGGTGGTGATGGTGACTGGTGGTGGTGGTG ATGGTGTTGATGGTGATGGTCATGGTGGTGGTGATGGTGATGATGGTGGT GACAGCCATGATGATGGTGATGGTGACAGTGGTGGTGGTGATGGTGATGA TGGTG	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870207	A A	ACACCCCA others(222): Show ACACCCCACACACACCACACCCCATACACACCACACCCCATACACACCAC ACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCAC ACCCCCCACACACACCACACCCCATACACACCACACACCCCACACACACC CCACACACACCACACACCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	338	0.0030	229	c.35 others(248): Show c.35+21477_*35+21478insCCCACACACACCACACCCCATACACA CCACACCCCATACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCCCACACACACCACACCCCATACACA CCACACACCCCACACACACCCCACACACACCACACACCCCACACACACCA CACCCCACACACACCACACACCCCACACACACCACACACCCCACACACAC CAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(222): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATACGTATATATATGTATATATATACGTA TATATATACGTATATATACGTATATATATACGTATATATACGTATATATA TGTATATATATATGTATATATACGTATATATATACGTATATATATATGTA TATATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	186	0.0054	229	c.114 others(250): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACGTATATATACGTA TATATATACGTATATATATACATATATATACGTATATATATACGTATATA TATATACATATATATACGTATATAATATATACGTATATATATATACATAT ATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(222): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATACGTATATATATGTATATATATACGTA TATATATACGTATATATATGTATATATATACGTATATATACGTATATATA TGTATATATATATGTATATATACGTATATATATACGTATATATATATGTA TATATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02132.hp2 HG02293.hp2 others(6): Show HG01123.hp1 HG02132.hp2 HG02293.hp2 HG02451.hp2 HG03195.hp2 HG03579.hp1 NA18984.hp1 NA19030.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0038 a0001c0001t0001g0084 a0001c0001t0001g0118 others(6): Show a0001c0001t0001g0038 a0001c0001t0001g0084 a0001c0001t0001g0118 a0001c0001t0001g0147 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0081 a0001c0001t0002g0099 a0001c0001t0002g0148	9	186	0.0484	229	c.114 others(250): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATACATATATATACGTATATATATACGTATATA TATATACATATATATACGTATATAATATATACGTATATATATATACATAT ATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(222): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATATGTATATATACGTATATATATACGTA TATATATACGTATATATATGTATATATATACGTATATATACGTATATATA TGTATATATATATGTATATATACGTATATATATACGTATATATATATGTA TATATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	186	0.0054	229	c.114 others(250): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATACGTATATATACATATATATATACGTATATA TATATACATATATATACGTATATAATATATACGTATATATATATACATAT ATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(222): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATATGTATATATATGTATATATATACGTA TATATATACGTATATATATGTATATATATACGTATATATACGTATATATA TGTATATATATACGTATATATACGTATATATATACGTATATATATATGTA TATATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03225.hp2 HG03710.hp2 others(1): Show HG01169.hp2 HG03225.hp2 HG03710.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0002g0088 others(1): Show a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0002g0088 a0001c0001t0002g0095	4	186	0.0215	229	c.114 others(250): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACGTATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATACATATATATACATATATATATACGTATATA TATATACATATATATACGTATATAATATATACGTATATATATATACATAT ATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(222): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATATGTATATATATGTATATATATACGTA TATATATACGTATATATATGTATATATATACGTATATATACGTATATATA TGTATATATATATGTATATATACGTATATATATACGTATATATATATGTA TATATATATGTATATATGTATATATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG00741.hp1 others(34): Show HG00140.hp2 HG00558.hp1 HG00741.hp1 HG01071.hp1 HG01175.hp2 HG01192.hp2 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01516.hp1 HG01993.hp1 HG02055.hp1 HG02080.hp2 HG02257.hp1 HG02258.hp1 HG02572.hp2 HG02723.hp2 HG02735.hp1 HG02976.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03704.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04204.hp2 NA18946.hp2 NA18957.hp2 NA18971.hp2 NA18988.hp1 NA19005.hp2 NA19063.hp1 NA19074.hp2 NA19090.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0003t0001	a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0063 others(34): Show a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0063 a0001c0001t0001g0070 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0117 a0001c0001t0002g0145 a0001c0001t0002g0155 a0001c0001t0004g0112 a0001c0003t0001g0106	37	186	0.1989	229	c.114 others(250): Show c.1149+22381_1149+22382insCATATATATATACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATACATATATATACATATATATATACGTATATA TATATACATATATATACGTATATAATATATACGTATATATATATACATAT ATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UBE3D_chr6_82887390_83070841	82934930	A A	ATATATAT others(222): Show ATATATATATGTATATATATATACGTATATATTATATACGTATATATATG TATATATATATACGTATATATATATGTATATATATGTATATATATACGTA TATATATACGTATATATATGTATATATATACGTATATATACGTATATATA TGTATATATATATGTATATATACGTATATATATACGTATATATATATGTA TATATATATGTATATATGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	186	0.0054	229	c.114 others(250): Show c.1149+22381_1149+22382insCATATATATACACATATATACATA TATATATACATATATATATACGTATATATATACGTATATATACATATATA TATACATATATATACGTATATATACGTATATATATACATATATATACGTA TATATATACGTATATATATACATATATATACATATATATATACGTATATA TATATACATATATATACGTATATAATATATACGTATATATATATACATAT ATATA	UBE3D	ENSG00000118420.17	transcript	ENST00000369747.8	protein_coding	9/9			chr6	TogoVar
UNC13A_chr19_17596336_17693354	17631180	T T	TCCCTCCC others(222): Show TCCCTCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCCT CCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCC CTCCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCT TCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCCTC CCTCCCTCCCTCCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	320	0.0031	229	c.342 others(246): Show c.3429-431_3429-430insGGGAGGGAGGGAGGGAAGGAGGGAGGGA GGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGG GAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAAGGG AGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAG GGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGAGG G	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
VCX3B_chrX_8459830_8471510	8467108	A A	AGGGAGGG others(222): Show AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GAGGTGTGTGGGGAGGGAGGGAGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0003 a0017c0017t0003	a0017c0017t0003g0032 a0017c0017t0003g0032	1	271	0.0037	229	c.72 others(238): Show c.725_*726insGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		599		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467381	A A	AAGAGGAG others(222): Show AAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGG AGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGG GAGGGAGGGAGGAAGAGGAGGTGTGTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	271	0.0037	229	c.99 others(238): Show c.998_*999insAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		872		chrX	TogoVar
VPS8_chr3_184807166_185057604	184895614	C C	CCCCCCCT others(222): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCC CCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCC CCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTC CTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCT CCTCCTCCCCCCTCCTCCTCCCCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0003 a0004c0008t0003	a0004c0008t0003g0063 a0004c0008t0003g0063	1	274	0.0037	229	c.200 others(246): Show c.2004+709_2004+710insTCCTCCTCCCCCCCCTCCTCCTCCCCCC CCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCTCCTCCTCCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCCCCCTCCTCCTCCCCCC C	VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47		INFO_REALIGN_3_PRIME	chr3	TogoVar
VRK2_chr2_58041806_58164871	58137180	A A	ATCATATA others(222): Show ATCATATATGATACATATATCATATATATCATATATGATACATATATCAT ATATATCATATATGATACATATATCATATATATCATATATGATACATATA TCATATATATGATACATGTATCATATATGATACATATATATCATATATAT GATACATATGTATCATATATATGATACATATGTATCATATATATGATACA TATGTATCATATATATGATACATATATATC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	340	0.0029	229	c.856 others(246): Show c.856+2000_856+2001insCATATATATCATATATGATACATATATC ATATATATCATATATGATACATATATCATATATATCATATATGATACATA TATCATATATATGATACATGTATCATATATGATACATATATATCATATAT ATGATACATATGTATCATATATATGATACATATGTATCATATATATGATA CATATGTATCATATATATGATACATATATATCTCATATATGATACATATA T	VRK2	ENSG00000028116.18	transcript	ENST00000340157.9	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
WDR87_chr19_37879823_37911594	37880983	C C	CTATATAT others(222): Show CTATATATATATATATTATATATATATATAATATATATATATATTATATA TATATATAATATATATATATATTATATATATATATAATATATATATATAT TATATATATATATAATATATATATATATTATATATATATATAATATATAT ATATATTATATATATATATAATATATATATTATATATATATATTATATAT ATATAATATATATTATATATATATTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	330	0.0030	229	c.39 others(240): Show c.3948_*3949insTATATAATATATATATAATATATATTATATATAT ATAATATATATATATAATATATATATTATATATATATATAATATATATAT ATATTATATATATATATAATATATATATATATTATATATATATATAATAT ATATATATATTATATATATATATAATATATATATATATTATATATATATA TAATATATATATATATTATATATATATATAATATATATATATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3839		chr19	TogoVar
XPR1_chr1_180627022_180895279	180656475	C C	CATTATAT others(222): Show CATTATATATAATATTTATTTATATATAATATATATATTATATATAATAT TTATATATTATATATAATATATATATTATATATAATATTTATATATTATA TATAATATATATATATTATATATAATATTTATATATTATATATAATATAT ATTATATATAATATTTATATATTATATATAATATTTATATATTATATATA ATATTTATATATTATATATAATATTTATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0329 a0001c0001t0001g0329	1	330	0.0030	229	c.69+ others(246): Show c.69+24223_69+24224insTTATATATAATATATATATTATATATAA TATTTATATATTATATATAATATATATATTATATATAATATTTATATATT ATATATAATATATATATATTATATATAATATTTATATATTATATATAATA TATATTATATATAATATTTATATATTATATATAATATTTATATATTATAT ATAATATTTATATATTATATATAATATTTATATATTATATATAATATTTA T	XPR1	ENSG00000143324.14	transcript	ENST00000367590.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZMAT4_chr8_40525590_40902826	40792643	G G	GGAGGGGA others(222): Show GGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGGGGGGAGAGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGAAGGAGAGGGTAGAGGAGG AGAGGGTAGAGGAGGAGAGGGGAGGGGAGGAGAGGGGAGGGGAGGAGAGG GGAGGGGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGAGGGG GAGGGGAGGGGAGGGGAGGGGAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	228	0.0044	229	c.103 others(248): Show c.103-24914_103-24913insTCCTCCTCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCCC CTCCCCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCTCTCCTCCTCTACC CTCTCCTCCTCTACCCTCTCCTTCCCTCCCCTCCCCTCCCCTCTCCTCCC CTCCCCTCTCCTCCTCTCCCCCCTCCTCCCCTCTCCTCCCCTCCCCTCCC CTC	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	2/6			chr8	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(222): Show TTATATATATTTTATATATAAAATATATATTATATATATTTTATATATAA AATATATATTATATATATTTTATATATAAAATATATATTATATATATTTT ATATATATAATATATATTATATATATTTTATATATATAATATATATTATA TATATTTTATATATATAATATATATTATATATATTTTATATATATAATAT ATATTATATATATTTTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	410	0.0024	229	c.125 others(244): Show c.125-645_125-644insTATATTATATATATAAAATATATATAATAT ATATTATATATATAAAATATATATAATATATATTATATATATAAAATATA TATAATATATATTATATATATAAAATATATATAATATATATTATATATAT AAAATATATATAATATATATTTTATATATAAAATATATATAATATATATT TTATATATAAAATATATATAATATATATTTTATATATAAAATATATATA	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(222): Show TTATATATATTTTATATATAAAATATATATTATATATATTTTATATATAA AATATATATTATATATATTTTATATATATAATATATATTATATATATTTT ATATATATAATATATATTATATATATTTTATATATATAATATATATTATA TATATTTTATATATATAATATATATTATATATATTATATATATATAATAT ATATTATATATATTTTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	410	0.0024	229	c.125 others(244): Show c.125-645_125-644insTATATTATATATATAAAATATATATAATAT ATATTATATATATATAATATATATAATATATATTATATATATAAAATATA TATAATATATATTATATATATAAAATATATATAATATATATTATATATAT AAAATATATATAATATATATTATATATATAAAATATATATAATATATATT TTATATATAAAATATATATAATATATATTTTATATATAAAATATATATA	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(222): Show TTATATATATTTTATATATAAAATATATATTATATATATTTTATATATAA AATATATATTATATATATTTTATATATATAATATATATTATATATATTTT ATATATATAATATATATTATATATATTTTATATATATAATATATATTATA TATATTTTATATATATAATATATATTATATATATTTTATATATATAATAT ATATTATATATATTTTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp2 HG01934.hp2 others(9): Show HG00544.hp2 HG00639.hp2 HG01934.hp2 HG02056.hp1 HG03225.hp2 HG04204.hp1 NA18943.hp1 NA18950.hp1 NA18957.hp1 NA18993.hp2 NA19062.hp2 NA21309.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0013 a0001c0001 a0011c0013	a0001c0001t0001 a0011c0013t0001 a0001c0001t0001 a0011c0013t0001	a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0077 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0130 a0011c0013t0001g0102	12	410	0.0293	229	c.125 others(244): Show c.125-645_125-644insTATATTATATATATAAAATATATATAATAT ATATTATATATATAAAATATATATAATATATATTATATATATAAAATATA TATAATATATATTATATATATAAAATATATATAATATATATTATATATAT AAAATATATATAATATATATTATATATATAAAATATATATAATATATATT TTATATATAAAATATATATAATATATATTTTATATATAAAATATATATA	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF112_chr19_44321555_44361680	44337362	T T	TTATATAT others(222): Show TTATATATATTTTATATATAAAATATATATTATATATATTTTATATATAT AATATATATTATATATATTTTATATATATAATATATATTATATATATTTT ATATATATAATATATATTATATATATTTTATATATATAATATATATTATA TATATTTTATATATATAATATATATTATATATATTTTATATATATAATAT ATATTATATATATTTTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	410	0.0024	229	c.125 others(244): Show c.125-645_125-644insTATATTATATATATAAAATATATATAATAT ATATTATATATATAAAATATATATAATATATATTATATATATAAAATATA TATAATATATATTATATATATAAAATATATATAATATATATTATATATAT AAAATATATATAATATATATTATATATATAAAATATATATAATATATATT ATATATATAAAATATATATAATATATATTTTATATATAAAATATATATA	ZNF112	ENSG00000062370.17	transcript	ENST00000354340.9	protein_coding	2/3			chr19	TogoVar
ZNF862_chr7_149833375_149872479	149859067	A A	ACGTGCGT others(222): Show ACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCT GTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC ACGCGTGGGCCAGCTGTGGGGGCAGAGGGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00597.hp1 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0003 a0001c0001t0005 a0001c0002t0003	a0001c0001t0005g0184 a0001c0002t0003g0185 a0001c0001t0005g0184 a0001c0002t0003g0185	2	412	0.0049	229	c.111 others(246): Show c.1118-354_1118-353insGTGCGTGGGCCAGCTGTGGGGGCAGAGG GGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCA GCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGG GCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAG CTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGG C	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNF862_chr7_149833375_149872479	149859067	A A	ACGTGCGT others(222): Show ACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCT GTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCA CACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTG TGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCAC GTGCGTGGGCCAGCTGTGGGGGCAGAGGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18948.hp2 NA18960.hp1 others(2): Show HG00544.hp1 NA18948.hp2 NA18960.hp1 NA19012.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0035 a0001c0002t0003g0037 a0001c0002t0003g0186 a0001c0002t0003g0035 a0001c0002t0003g0037 a0001c0002t0003g0186	5	412	0.0121	229	c.111 others(246): Show c.1118-354_1118-353insGTGCGTGGGCCAGCTGTGGGGGCAGAGG GGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCA GCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAGCTGTGGGGGCAGAGGG GCACACGCGTGGGCCAGCTGTGGGGGCAGAGGGGCACACGCGTGGGCCAG CTGTGGGGGCAGAGGGGCACGTGCGTGGGCCAGCTGTGGGGGCAGAGGGG C	ZNF862	ENSG00000106479.11	transcript	ENST00000223210.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTATATAT others(222): Show TTATATATATATAAATATATATATATTTATATATATAAATATATATATTT ATATATATATTTATATATATATAAATATATATATATTTATATATATAAAT ATATATATTTATATATATATAAATATATATATTTATATATATAAATATAT ATTTATATATAAATATATATTTATATATATATAAATATATTTTATATATA AATATATATATATTTATATATATATAAATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0061 a0002c0002t0002g0061	1	400	0.0025	229	c.532 others(244): Show c.532+446_532+447insTATTTATATATATATAAATATATATATATT TATATATAAAATATATTTATATATATATAAATATATATTTATATATAAAT ATATATTTATATATATAAATATATATATTTATATATATATAAATATATAT ATTTATATATATAAATATATATATATTTATATATATATAAATATATATAT AAATATATATATTTATATATATAAATATATATATATTTATATATATATA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ZSCAN32_chr16_3377085_3406004	3393202	T T	TTCTATAT others(222): Show TTCTATATATATATAAATATATATATTTCTATATATATAAATATATATAT TTCTATATATATAAATATATATATATTTATATATATATAAATATATATAT ATTTCTATATATATAAATATATATATATTTCTATATATATAAATATATAT ATATTTCTATTTATATATATATATATTTATATATATAGAAATATATATAT ATTTATATATATATAAAATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	400	0.0025	229	c.532 others(244): Show c.532+446_532+447insTATATATATATATTTTATATATATATAAAT ATATATATATTTCTATATATATAAATATATATATATATAAATAGAAATAT ATATATATTTATATATATAGAAATATATATATATTTATATATATAGAAAT ATATATATATTTATATATATATAAATATATATATATTTATATATATAGAA ATATATATATTTATATATATAGAAATATATATATTTATATATATATAGA	ZSCAN32	ENSG00000140987.21	transcript	ENST00000396852.9	protein_coding	3/6			chr16	TogoVar
ABCA8_chr17_68862289_68960392	68958591	A A	ATATAATT others(223): Show ATATAATTATATATAATATATAATATAATTATATATAATATATAATATAA TTATATATAATATATAATATAATTATATATAATATATAATATAATTATAT ATAATATATAATATAATTATATATAATATATAATATATAATATAATTATA TATAATATATAATATATAATATAATTATATAAAATATATAATATATTATA TAATTATATATTATATATATTATTTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01074.hp2 NA18952.hp2 others(3): Show HG00639.hp1 HG01074.hp2 NA18952.hp2 NA18980.hp2 NA19080.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0002t0001 a0003c0007t0001 a0001c0001t0001 a0001c0002t0001 a0003c0007t0001	a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0270 others(3): Show a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0270 a0001c0002t0001g0243 a0001c0002t0001g0244 a0003c0007t0001g0252	6	274	0.0219	230	c.-35 others(241): Show c.-3540_-3539insATATATAAATAATATATATAATATATAATTATAT AATATATTATATATTTTATATAATTATATTATATATTATATATTATATAT AATTATATTATATATTATATATTATATATAATTATATTATATATTATATA TAATTATATTATATATTATATATAATTATATTATATATTATATATAATTA TATTATATATTATATATAATTATATTATATATTATATATAATTATA	ABCA8	ENSG00000141338.15	transcript	ENST00000586539.6	protein_coding		3200		chr17	TogoVar
ABCB1_chr7_87498017_87605884	87502506	A A	ATATATAA others(223): Show ATATATAATATATATATATTATATATATATAATTATATATATTATTATAT ATAATATTATATATATATATTATATATATATTATATATATGTATTATATA TATATAATAATATAATATTATATATATATATTATTATATATATTATATAA TTATATTATATATAATTATATAATATAAAATTATATATAATTATATAATA TAAAATTATATATAATTATATAATATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0037 a0001c0001t0003g0037	1	352	0.0028	230	c.17 others(241): Show c.1736_*1737insATTTTATATTATATAATTATATATAATTTTATAT TATATAATTATATATAATTTTATATTATATAATTATATATAATATAATTA TATAATATATATAATAATATATATATATAATATTATATTATTATATATAT ATAATACATATATATAATATATATATAATATATATATATAATATTATATA TAATAATATATATAATTATATATATATAATATATATATATTATATA	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding		510		chr7	TogoVar
ABR_chr17_998519_1184981	1119330	T T	TCCCTGAG others(223): Show TCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCC CAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGA GTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTAACCCTG AGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAGTCCTCCCAGCGTTAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0238 a0001c0001t0011g0238	1	337	0.0030	230	c.246 others(247): Show c.246+5852_246+5853insTTAACGCTGGGAGGACTCAGGCTCAGGG ATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAG GCTCAGGGTTAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAG AACTCAGGCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATAACG CTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTCAGGCTCAG GG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1119330	T T	TCCCTGAG others(223): Show TCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCTGAGTTCCTCC CAGCGTTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGA GTTCTCCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCAGCGTTATCCCTG AGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGT TATCCCTGAGCCTGAGTCCTCCCAGCGTTAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0137 a0001c0001t0065g0137	1	337	0.0030	230	c.246 others(247): Show c.246+5852_246+5853insTTAACGCTGGGAGGACTCAGGCTCAGGG ATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAG GCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAACGCTGGGGAG AACTCAGGCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATAACG CTGGGAGGAACTCAGGCTCAGGGTTAACGCTGGGGAGAACTCAGGCTCAG GG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1288867	T T	TCCCCCGT others(223): Show TCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	230	c.46 others(241): Show c.4696_*4697insGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGGGACACGGGAC GGAGCAGGGACACGGGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGA CACGGGGGACGGAGCAGGGACACGGGACGGAGCAGGGACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3523		chr1	TogoVar
ACER3_chr11_76855918_77031797	77005992	T T	TATACATA others(223): Show TATACATATATATATATTATATATATATACGTATATATATATTATATATA TACGTATATATATAATATATATATACGTATATATATATTATATATATATA CGTATATATATATTATATATATATACGTATATATATATTATATATATATA CGTATATATATATATTATATATATACGTATATATATATTATATATATATA CGTATATATATATTATATATATATACGTATA	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0015 a0002c0004t0015	a0002c0004t0015g0251 a0002c0004t0015g0251	1	346	0.0029	230	c.497 others(247): Show c.497+7171_497+7172insATACATATATATATATTATATATATATA CGTATATATATATTATATATATACGTATATATATAATATATATATACGTA TATATATATTATATATATATACGTATATATATATTATATATATATACGTA TATATATATTATATATATATACGTATATATATATATTATATATATACGTA TATATATATTATATATATATACGTATATATATATTATATATATATACGTA TA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10			chr11	TogoVar
ACER3_chr11_76855918_77031797	77005992	T T	TATACATA others(223): Show TATACATATATATATATTATATATATATACGTATATATATTATATATATA TACGTATATATATAATATATATATACGTATATATATATTATATATATATA CGTATATATATATTATATATATATACGTATATATATATTATATATATATA CGTATATATATATATTATATATATACGTATATATATATTATATATATATA CGTATATATATATTATATATATATACGTATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01993.hp1 NA18952.hp2 others(2): Show HG00621.hp2 HG01993.hp1 NA18952.hp2 NA18963.hp1 NA19068.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0015 a0002c0004t0006 a0002c0004t0015	a0002c0004t0006g0312 a0002c0004t0006g0313 a0002c0004t0015g0230 others(2): Show a0002c0004t0006g0312 a0002c0004t0006g0313 a0002c0004t0015g0230 a0002c0004t0015g0307 a0002c0004t0015g0311	5	346	0.0145	230	c.497 others(247): Show c.497+7171_497+7172insATACATATATATATATTATATATATATA CGTATATATATTATATATATATACGTATATATATAATATATATATACGTA TATATATATTATATATATATACGTATATATATATTATATATATATACGTA TATATATATTATATATATATACGTATATATATATATTATATATATACGTA TATATATATTATATATATATACGTATATATATATTATATATATATACGTA TA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10			chr11	TogoVar
ACER3_chr11_76855918_77031797	77005992	T T	TATACGTA others(223): Show TATACGTATATATATATTATATATATATACGTATATATATTATATATATA TACGTATATATATAATATATATATACGTATATATATATTATATATATATA CGTATATATATATTATATATATATACGTATATATATATTATATATATATA CGTATATATATATATTATATATATACGTATATATATATTATATATATATA CGTATATATATATTATATATATATACGTATA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19084.hp1 HG02129.hp1 NA19084.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0089 a0002c0004t0090 a0002c0004t0089 a0002c0004t0090	a0002c0004t0089g0314 a0002c0004t0090g0308 a0002c0004t0089g0314 a0002c0004t0090g0308	2	346	0.0058	230	c.497 others(247): Show c.497+7171_497+7172insATACGTATATATATATTATATATATATA CGTATATATATTATATATATATACGTATATATATAATATATATATACGTA TATATATATTATATATATATACGTATATATATATTATATATATATACGTA TATATATATTATATATATATACGTATATATATATATTATATATATACGTA TATATATATTATATATATATACGTATATATATATTATATATATATACGTA TA	ACER3	ENSG00000078124.13	transcript	ENST00000532485.6	protein_coding	7/10			chr11	TogoVar
ACTN4_chr19_38642649_38736589	38736581	A A	AAGGGGCG others(223): Show AAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGG GGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCG TCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGG GGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCA GGGGAGAGAGGGGCGTCGGGGCAGGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0246 a0001c0004t0005g0246	1	314	0.0032	230	c.71 others(241): Show c.7149_*7150insAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGG GGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCA GGGGAGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGG AGAGAGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAG AGGGGCGTCGGGGCAGGGGAGAGAGGGGCGTCGGGGCAGGGGAGAG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4993		chr19	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(223): Show GGTGTGTCTACACACACCTATATGTACGTGTGTACACACACCTATATGTG CGTGTGTGTACACACCTATATGTGCGTGTGTGTACACACACCTATATGTG CGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATG TGCGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATA TGTGCGTGTGTGTACACACACCTATATGTGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA18964.hp2 HG01891.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0308 a0001c0001t0001g0268 a0001c0001t0001g0308	2	332	0.0060	230	c.130 others(249): Show c.1302+3274_1302+3275insCTACACACACCTATATGTACGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGT GTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM9_chr8_38991973_39110261	39045385	G G	GGTGTGTC others(223): Show GGTGTGTCTACACACACCTATATGTGCGTGTGTACACACACCTATATGTG CGTGTGTGTACACACCTATATGTGCGTGTGTGTACACACACCTATATGTG CGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATG TGCGTGTGTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATA TGTGCGTGTGTGTACACACACCTATATGTGC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	332	0.0030	230	c.130 others(249): Show c.1302+3274_1302+3275insCTACACACACCTATATGTGCGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACCTATATGTGCGTGTGTGT ACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGTGT GTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGTGT GTGTACACACACCTATATGTGCGTGTGTGTACACACACCTATATGTGCGT GTGT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAP1_chr7_892900_959680	906743	A A	AAGGGGTT others(223): Show AAGGGGTTTGGGGAAGGGGTTGGGGAAGGGGGTTAGGGGAATGGGGAATG GTTGGGAAAGGGAAGGGGGAAAGGGGAAGGGGTTTGGGTTTGGGGAATGG GGTTTGGGAATGGGGAAAGGGGTTTGGGGAAGGTGAATGGAGAAAGGGAA AGGAGAAAGGGAAAGGAGAAAGGAGAAAGGAGAAGGGAAAGGAGAAAGGA GAAAGGAGAAAGGGAAAGGAGAAGGGGGCGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	14	0.0714	230	c.389 others(247): Show c.389-1572_389-1571insCCGCCCCCTTCTCCTTTCCCTTTCTCCT TTCTCCTTTCTCCTTTCCCTTCTCCTTTCTCCTTTCTCCTTTCCCTTTCT CCTTTCCCTTTCTCCATTCACCTTCCCCAAACCCCTTTCCCCATTCCCAA ACCCCATTCCCCAAACCCAAACCCCTTCCCCTTTCCCCCTTCCCTTTCCC AACCATTCCCCATTCCCCTAACCCCCTTCCCCAACCCCTTCCCCAAACCC CT	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(223): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0213 a0009c0018t0001g0213	1	218	0.0046	230	c.32- others(243): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar

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