Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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Samplehapid

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No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
KANSL1_chr17_46024916_46198429	46059647	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01884.hp1 others(4): Show HG01069.hp1 HG01071.hp2 HG01884.hp1 HG02148.hp2 HG02559.hp2 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0095 others(4): Show a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0202	7	321	0.0218	18	c.184 others(37): Show c.1848+6872_1848+6889dupCTCTCTCTCTCTCTCTCT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18998.hp2 HG02723.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0123 a0001c0001t0006g0234 a0001c0001t0002g0123 a0001c0001t0006g0234	2	321	0.0062	18	c.129 others(37): Show c.1290-1628_1290-1611dupAAAAAAAAAAAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46105906	G G	GAGACACA others(11): Show GAGACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp1 HG02895.hp1 others(3): Show HG02280.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0221 others(3): Show a0001c0001t0004g0205 a0001c0001t0004g0206 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0224 a0001c0001t0004g0225	6	321	0.0187	18	c.129 others(39): Show c.1290-11206_1290-11205insGTGTGTGTGTGTGTGTCT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46130187	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp2 HG01255.hp2 others(5): Show HG00140.hp1 HG01074.hp2 HG01255.hp2 HG01433.hp1 HG02109.hp2 HG02735.hp2 HG03704.hp1 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0024 a0003c0004t0005 a0003c0004t0024	a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(5): Show a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0307 a0003c0004t0005g0313 a0003c0004t0005g0317 a0003c0004t0024g0300	8	321	0.0249	18	c.129 others(39): Show c.1290-35504_1290-35487dupTTTTTTTTTTTTTTTTTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL3_chr2_96588172_96643312	96611903	A A	ATATATGT others(11): Show ATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18939.hp1 NA18947.hp1 others(4): Show HG00597.hp2 NA18939.hp1 NA18947.hp1 NA18949.hp2 NA18959.hp2 NA18964.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0071 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0103	7	340	0.0206	18	c.108 others(35): Show c.1086+378_1086+379insCACACACACACACATATA	KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	9/20			chr2	TogoVar
KANSL3_chr2_96588172_96643312	96611903	A A	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01261.hp1 HG01981.hp2 others(19): Show HG01175.hp2 HG01261.hp1 HG01981.hp2 HG02027.hp2 HG02572.hp2 HG02622.hp1 HG02698.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 NA18951.hp1 NA18964.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19063.hp2 NA19065.hp1 NA19072.hp2 NA19080.hp2 NA19090.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0004c0004t0005	a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0033 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0008g0283 a0001c0001t0010g0074 a0004c0004t0005g0051	22	340	0.0647	18	c.108 others(35): Show c.1086+378_1086+379insCACACACACACACACATA	KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	9/20			chr2	TogoVar
KANSL3_chr2_96588172_96643312	96611903	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG01192.hp1 others(26): Show HG00423.hp2 HG00438.hp1 HG01192.hp1 HG01891.hp1 HG02055.hp2 HG02132.hp2 HG02257.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02886.hp1 HG02896.hp1 HG02965.hp2 HG03195.hp2 HG03209.hp2 HG03579.hp2 HG03831.hp1 HG03834.hp1 NA18612.hp2 NA18906.hp2 NA18945.hp1 NA18970.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19070.hp1 NA19085.hp2 NA19086.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0003c0003t0001 a0003c0003t0015	a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 others(20): Show a0001c0001t0001g0005 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0003g0205 a0001c0001t0003g0209 a0001c0001t0009g0243 a0001c0001t0016g0114 a0003c0003t0001g0022 a0003c0003t0001g0225 a0003c0003t0015g0215	29	340	0.0853	18	c.108 others(35): Show c.1086+361_1086+378dupCACACACACACACACACA	KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	9/20			chr2	TogoVar
KANTR_chrX_53089142_53132438	53129235	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG03688.hp1 HG02071.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0169 a0001c0001t0001g0018 a0001c0001t0001g0169	2	249	0.0080	18	c.47 others(29): Show c.4732_*4733insTGTGTGTGTGTGTGTGTG	KANTR	ENSG00000232593.8	transcript	ENST00000604062.7	protein_coding		1798		chrX	TogoVar
KARS1_chr16_75622724_75652665	75624114	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	380	0.0026	18	c.37 others(29): Show c.3780_*3781insATATATATATATATATAT	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3609		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(11): Show ATATATATATATATATTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01167.hp2 HG01261.hp1 others(4): Show HG01069.hp1 HG01167.hp2 HG01261.hp1 HG03834.hp1 NA18964.hp1 NA19065.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0177	7	380	0.0184	18	c.37 others(29): Show c.3761_*3762insAAAATATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02083.hp2 NA18947.hp1 others(2): Show HG00140.hp2 HG02083.hp2 NA18947.hp1 NA18947.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0183 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0183 a0001c0001t0001g0236 a0001c0010t0001g0133	5	380	0.0132	18	c.37 others(29): Show c.3761_*3762insAAAAAATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01358.hp2 HG01496.hp2 others(9): Show HG00639.hp2 HG01358.hp2 HG01496.hp2 HG02004.hp1 HG02004.hp2 HG02273.hp2 HG02293.hp2 HG03017.hp2 NA18747.hp2 NA18977.hp1 NA19003.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0041 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0041 a0001c0001t0001g0121 a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0001t0001g0243 a0001c0001t0001g0255	12	380	0.0316	18	c.37 others(29): Show c.3761_*3762insAAAAAAAATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 NA19054.hp1 NA19081.hp1 HG03654.hp2 NA19054.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0169 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0169	3	380	0.0079	18	c.37 others(29): Show c.3761_*3762insAAAAAAAAAATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 NA18955.hp2 HG02273.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0049 a0001c0001t0001g0001 a0001c0001t0001g0049	2	380	0.0053	18	c.37 others(29): Show c.3761_*3762insAAAAAAAAAAAATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KASH5_chr19_49383249_49422990	49393682	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01081.hp2 HG01106.hp1 others(8): Show HG00280.hp2 HG01081.hp2 HG01106.hp1 HG01496.hp2 HG02165.hp1 HG02896.hp1 NA18999.hp2 NA19012.hp2 NA19030.hp2 NA19066.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0001t0003 a0001c0014t0003 a0001c0001t0002 a0001c0001t0003 a0001c0014t0003	a0001c0001t0002g0178 a0001c0001t0003g0195 a0001c0001t0003g0196 others(8): Show a0001c0001t0002g0178 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0203 a0001c0001t0003g0206 a0001c0001t0003g0224 a0001c0001t0003g0309 a0001c0014t0003g0204	11	354	0.0311	18	c.44- others(31): Show c.44-773_44-756dupGTGTGTGTGTGTGTGTGT	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
KASH5_chr19_49383249_49422990	49402907	A A	AGAAGAAG others(11): Show AGAAGAAGGTGGTCTCTGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01891.hp2 HG02040.hp1 others(17): Show HG01255.hp2 HG01891.hp2 HG02040.hp1 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0009 a0002c0002 a0002c0003 a0002c0009	a0002c0002t0001 a0002c0003t0004 a0002c0009t0011 a0002c0002t0001 a0002c0003t0004 a0002c0009t0011	a0002c0002t0001g0052 a0002c0003t0004g0002 a0002c0003t0004g0020 others(11): Show a0002c0002t0001g0052 a0002c0003t0004g0002 a0002c0003t0004g0020 a0002c0003t0004g0021 a0002c0003t0004g0144 a0002c0003t0004g0145 a0002c0003t0004g0146 a0002c0003t0004g0147 a0002c0003t0004g0148 a0002c0003t0004g0149 a0002c0003t0004g0150 a0002c0003t0004g0151 a0002c0003t0004g0153 a0002c0009t0011g0152	20	354	0.0565	18	c.798 others(35): Show c.798+3439_798+3456dupAGAAGGTGGTCTCTGGGA	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
KAT14_chr20_18132863_18193035	18139633	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0175 a0001c0003t0001g0175	1	346	0.0029	18	c.-45 others(37): Show c.-454+1607_-454+1624dupGTGTGTGTGTGTGTGTGT	KAT14	ENSG00000149474.15	transcript	ENST00000688188.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
KAT2B_chr3_20035446_20159404	20061961	C C	CATATAAT others(11): Show CATATAATATATAAAACAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18975.hp2 NA19010.hp2 HG02135.hp1 NA18975.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0317 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0317 a0001c0002t0001g0330 a0001c0002t0001g0331	3	374	0.0080	18	c.304 others(37): Show c.304-10369_304-10368insTAATATATAAAACATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20081878	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00597.hp1 others(66): Show HG00099.hp2 HG00423.hp2 HG00597.hp1 HG00733.hp1 HG00735.hp1 HG01081.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01433.hp2 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02135.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03195.hp1 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp2 HG04228.hp2 NA18944.hp1 NA18952.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18974.hp2 NA18977.hp2 NA18982.hp1 NA18994.hp1 NA18998.hp1 NA19006.hp2 NA19009.hp2 NA19043.hp1 NA19063.hp1 NA20129.hp2 NA21309.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0004c0008 a0005c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0004t0001 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0004c0008t0001 a0005c0010t0001	a0001c0001t0001g0084 a0001c0001t0001g0371 a0001c0002t0001g0073 others(66): Show a0001c0001t0001g0084 a0001c0001t0001g0371 a0001c0002t0001g0073 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0106 a0001c0002t0001g0243 a0001c0002t0001g0331 a0001c0002t0001g0345 a0001c0002t0001g0365 a0001c0002t0001g0366 a0001c0002t0001g0367 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0038 a0001c0002t0002g0097 a0001c0002t0002g0164 a0001c0002t0002g0218 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0316 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0342 a0001c0002t0002g0343 a0001c0002t0002g0344 a0001c0002t0002g0348 a0001c0002t0002g0359 a0001c0002t0003g0216 a0001c0002t0004g0157 a0001c0002t0004g0364 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0017 a0001c0002t0005g0036 a0001c0002t0005g0308 a0001c0002t0005g0309 a0001c0002t0005g0310 a0001c0002t0006g0107 a0001c0002t0006g0171 a0001c0002t0006g0220 a0001c0002t0006g0222 a0001c0002t0006g0241 a0001c0002t0006g0263 a0001c0002t0006g0349 a0001c0002t0006g0360 a0001c0004t0001g0074 a0001c0004t0001g0093 a0001c0004t0001g0161 a0001c0004t0001g0162 a0001c0004t0001g0166 a0001c0004t0001g0246 a0001c0004t0001g0276 a0001c0004t0001g0292 a0001c0004t0004g0233 a0001c0004t0007g0200 a0001c0004t0007g0252 a0001c0004t0007g0253 a0001c0004t0010g0167 a0004c0008t0001g0034 a0005c0010t0001g0368	69	374	0.1845	18	c.430 others(35): Show c.430+9431_430+9432insATATATATATATATATAT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02809.hp2 HG02896.hp2 others(15): Show HG01952.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03195.hp1 HG03195.hp2 HG03540.hp1 HG03942.hp1 HG03942.hp2 NA18942.hp2 NA18949.hp1 NA18955.hp1 NA18963.hp2 NA18974.hp1 NA19064.hp1 NA19074.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0013 a0001c0001 a0001c0002 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0013t0002	a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0001g0082 others(15): Show a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0264 a0001c0001t0001g0339 a0001c0001t0002g0109 a0001c0002t0001g0096 a0001c0002t0001g0127 a0001c0002t0001g0250 a0001c0002t0002g0032 a0001c0002t0005g0206 a0001c0002t0005g0207 a0001c0002t0005g0210 a0001c0002t0005g0308 a0001c0002t0005g0309 a0001c0002t0005g0310 a0001c0002t0006g0107 a0001c0013t0002g0230	18	374	0.0481	18	c.230 others(37): Show c.2305+1016_2305+1033dupAAAAAAAAAAAAAAAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT5_chr11_65707252_65724604	65714774	A A	AGCACCCT others(11): Show AGCACCCTCCACGTTGCCC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	442	0.0023	18	c.939 others(31): Show c.939+32_940-29dupGCACCCTCCACGTTGCCC	KAT5	ENSG00000172977.13	transcript	ENST00000341318.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
KAT6A_chr8_41924479_42056987	42054262	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0012 a0001c0008t0012	a0001c0008t0012g0130 a0001c0008t0012g0130	1	374	0.0027	18	c.-26 others(29): Show c.-2688_-2687insATATATATATATATTTTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2276		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054262	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0062 a0001c0005t0062	a0001c0005t0062g0116 a0001c0005t0062g0116	1	374	0.0027	18	c.-26 others(29): Show c.-2688_-2687insATATATATATATATATAT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2276		chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054265	A A	ATATATAT others(11): Show ATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG03225.hp1 HG02257.hp2 HG02258.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0053 a0001c0001t0025 a0001c0001t0053	a0001c0001t0025g0016 a0001c0001t0025g0017 a0001c0001t0053g0018 a0001c0001t0025g0016 a0001c0001t0025g0017 a0001c0001t0053g0018	3	374	0.0080	18	c.-26 others(29): Show c.-2691_-2690insCATATATATATATATATA	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2279		chr8	TogoVar
KAT6B_chr10_74821600_75037624	74830760	A A	ATATATAT others(11): Show ATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	236	0.0042	18	c.-32 others(37): Show c.-329+3984_-329+3985insATATATATGTATATATAT	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
KATNA1_chr6_149589873_149653714	149609802	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(25): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00642.hp1 HG00735.hp2 HG01081.hp2 HG01175.hp2 HG01884.hp1 HG01934.hp1 HG02040.hp1 HG02155.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG03688.hp1 HG04199.hp2 NA18977.hp2 NA18979.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19009.hp2 NA19010.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0003c0004t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0032 others(25): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0240 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0004g0057 a0001c0001t0005g0010 a0003c0004t0001g0019	28	296	0.0946	18	c.502 others(35): Show c.502-5021_502-5020insTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149613179	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02717.hp1 HG02976.hp1 others(5): Show HG00408.hp1 HG02717.hp1 HG02976.hp1 HG03139.hp2 HG03486.hp2 NA18945.hp2 NA18952.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0055 others(5): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0143 a0001c0001t0001g0249	8	296	0.0270	18	c.502 others(35): Show c.502-8415_502-8398dupTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNAL1_chr13_30197630_30312551	30274891	A A	ACATACGC others(11): Show ACATACGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0101 a0001c0001t0013g0101	1	386	0.0026	18	c.323 others(35): Show c.323+5171_323+5172insCGCGCGCGCGCGCGTATG	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNBL1_chr15_34135674_34215096	34137036	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03579.hp2 NA18522.hp1 others(2): Show HG02818.hp1 HG03579.hp2 NA18522.hp1 NA18974.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0001g0120 a0001c0001t0001g0136 others(2): Show a0001c0001t0001g0097 a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0002g0028 a0001c0001t0002g0251	5	344	0.0145	18	c.53 others(29): Show c.5302_*5303insTTTTTTTTTTTTTTTTTT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding		3637		chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34188137	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	344	0.0029	18	c.-15 others(37): Show c.-15+21796_-15+21813dupTTTTTTTTTTTTTTTTTT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34188137	T T	TATAAAAA others(11): Show TATAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	344	0.0029	18	c.-15 others(37): Show c.-15+21813_-15+21814insTTTTTTTTTTTTTTTTAT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34191154	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG00639.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0325 a0001c0001t0002g0327	2	344	0.0058	18	c.-15 others(37): Show c.-15+18779_-15+18796dupATATATATATATATATAT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KATNIP_chr16_27545144_27785344	27572362	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0050 a0001c0001t0008g0050	1	152	0.0066	18	c.8-1 others(31): Show c.8-1519_8-1502dupCACACACACACACACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27661937	T T	TATATATA others(11): Show TATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0094 a0003c0003t0002g0094	1	152	0.0066	18	c.540 others(37): Show c.540+13213_540+13214insCACATACATATATATATA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KAZN_chr1_14593685_15123043	14695510	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	146	0.0069	18	c.226 others(37): Show c.226+96302_226+96303insTTTTTTTTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14702326	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02602.hp2 HG02647.hp1 others(1): Show HG02055.hp2 HG02602.hp2 HG02647.hp1 NA19079.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0009	a0001c0001t0025 a0001c0003t0004 a0002c0002t0007 others(1): Show a0001c0001t0025 a0001c0003t0004 a0002c0002t0007 a0004c0009t0001	a0001c0001t0025g0093 a0001c0003t0004g0094 a0002c0002t0007g0072 others(1): Show a0001c0001t0025g0093 a0001c0003t0004g0094 a0002c0002t0007g0072 a0004c0009t0001g0034	4	146	0.0274	18	c.226 others(39): Show c.226+103126_226+103143dupTGTGTGTGTGTGTGTGTG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883318	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0040 a0001c0001t0010g0040	1	146	0.0069	18	c.227 others(37): Show c.227-77363_227-77362insAAGAAAGAGAGAGAGAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883318	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG04199.hp2 HG02622.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0064 a0002c0002t0001g0114 a0001c0001t0004g0064 a0002c0002t0001g0114	2	146	0.0137	18	c.227 others(37): Show c.227-77358_227-77341dupGAGAGAGAGAGAGAGAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883405	A A	AAGAAAGA others(11): Show AAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0120 a0001c0008t0009g0120	1	146	0.0069	18	c.227 others(37): Show c.227-77277_227-77260dupGAAAGAAAGAAAGAAAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14921153	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02738.hp2 HG04199.hp1 others(1): Show HG00558.hp2 HG02738.hp2 HG04199.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0002 a0002c0002t0001 a0001c0003t0002 a0002c0002t0001	a0001c0003t0002g0002 a0002c0002t0001g0020 a0002c0002t0001g0039 others(1): Show a0001c0003t0002g0002 a0002c0002t0001g0020 a0002c0002t0001g0039 a0002c0002t0001g0071	4	146	0.0274	18	c.227 others(37): Show c.227-39513_227-39496dupCACACACACACACACACA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15101164	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 HG03225.hp1 HG02647.hp2 HG02922.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0004g0063 a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0004g0063	3	146	0.0206	18	c.154 others(35): Show c.1548-373_1548-356dupCTCTCTCTCTCTCTCTCT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15110141	T T	TTGTGTAT others(11): Show TTGTGTATGTGTGTGCATA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0083	1	146	0.0069	18	c.204 others(37): Show c.2049-2280_2049-2263dupATGTGTGTGCATATGTGT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1993922	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03209.hp1 HG03704.hp1 others(6): Show HG03130.hp2 HG03209.hp1 HG03704.hp1 HG04199.hp2 NA18942.hp2 NA18950.hp2 NA18985.hp2 NA19009.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0163 a0001c0001t0001g0220 a0001c0001t0001g0253 others(6): Show a0001c0001t0001g0163 a0001c0001t0001g0220 a0001c0001t0001g0253 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0003g0065 a0001c0001t0005g0174 a0001c0001t0006g0059 a0001c0001t0006g0279	9	389	0.0231	18	c.-90 others(37): Show c.-908-6343_-908-6326dupCACACACACACACACACA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD2_chr7_32863172_32896760	32891874	G G	GCCCGCCG others(11): Show GCCCGCCGCCCCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01168.hp1 HG01169.hp1 others(8): Show HG01081.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01884.hp2 HG02055.hp1 HG02080.hp2 HG02280.hp1 HG02280.hp2 HG03579.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0038 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0145	11	434	0.0254	18	c.-69 others(27): Show c.-695_-678dupGGCGGCGGGGGCGGCGGG	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		115		chr7	TogoVar
KBTBD3_chr11_106046098_106082347	106058753	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0208 a0001c0001t0014g0208	1	366	0.0027	18	c.233 others(33): Show c.233+111_233+112insTAAAAAAAAAAAAAAAAA	KBTBD3	ENSG00000182359.15	transcript	ENST00000531837.2	protein_coding	3/3			chr11	TogoVar
KCNAB1_chr3_156115578_156543605	156143569	G G	GTTTTTTG others(11): Show GTTTTTTGGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 NA19240.hp1 HG02145.hp1 HG02145.hp2 NA19240.hp1	a0003 a0004 a0003 a0004	a0003c0005 a0004c0008 a0003c0005 a0004c0008	a0003c0005t0001 a0004c0008t0008 a0003c0005t0001 a0004c0008t0008	a0003c0005t0001g0049 a0003c0005t0001g0052 a0004c0008t0008g0051 a0003c0005t0001g0049 a0003c0005t0001g0052 a0004c0008t0008g0051	3	124	0.0242	18	c.275 others(37): Show c.275+22689_275+22690insGGTTTTTTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156147940	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	124	0.0081	18	c.275 others(37): Show c.275+27057_275+27074dupACACACACACACACACAC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156354047	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	124	0.0081	18	c.276 others(37): Show c.276-67559_276-67542dupGTGTGTGTGTGTGTGTGT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156357159	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0032 a0002c0004t0004g0032	1	124	0.0081	18	c.276 others(37): Show c.276-64456_276-64455insGCACACACACACACACAC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156387014	C C	CTCTTTTT others(11): Show CTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp1 HG02970.hp1 others(3): Show HG02647.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0010 a0001c0011t0003	a0001c0001t0001g0053 a0001c0001t0002g0009 a0001c0001t0004g0116 others(3): Show a0001c0001t0001g0053 a0001c0001t0002g0009 a0001c0001t0004g0116 a0001c0001t0006g0100 a0001c0002t0010g0014 a0001c0011t0003g0022	6	124	0.0484	18	c.276 others(37): Show c.276-34601_276-34600insCTTTTTTTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar

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