Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
JPH3_chr16_87597508_87703156	87659374	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	380	0.0026	19	c.116 others(40): Show c.1160+14351_1160+14352insAAAAAAAAAAAAAAAAAAA	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
JRK_chr8_142652460_142674967	142656474	T T	TTTAAATG others(12): Show TTTAAATGCTGCCCTAGACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(242): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0008 a0011 a0013	a0001c0001 a0001c0007 a0001c0011 others(12): Show a0001c0001 a0001c0007 a0001c0011 a0001c0021 a0001c0023 a0001c0026 a0001c0027 a0002c0024 a0002c0028 a0003c0005 a0005c0008 a0006c0010 a0008c0030 a0011c0025 a0013c0029	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(42): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0007t0008 a0001c0011t0001 a0001c0021t0004 a0001c0023t0051 a0001c0026t0044 a0001c0027t0001 a0002c0024t0004 a0002c0028t0001 a0003c0005t0007 a0003c0005t0030 a0005c0008t0012 a0006c0010t0004 a0008c0030t0001 a0011c0025t0004 a0013c0029t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(98): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0179 a0001c0001t0001g0194 a0001c0001t0004g0006 a0001c0001t0004g0013 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0056 a0001c0001t0004g0067 a0001c0001t0004g0120 a0001c0001t0004g0129 a0001c0001t0004g0137 a0001c0001t0004g0141 a0001c0001t0004g0154 a0001c0001t0004g0160 a0001c0001t0004g0164 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0008g0171 a0001c0001t0011g0015 a0001c0001t0021g0119 a0001c0001t0021g0126 a0001c0001t0021g0132 a0001c0001t0022g0040 a0001c0001t0026g0159 a0001c0001t0026g0162 a0001c0001t0027g0144 a0001c0001t0027g0150 a0001c0001t0028g0122 a0001c0001t0028g0127 a0001c0001t0029g0151 a0001c0001t0029g0200 a0001c0001t0034g0177 a0001c0001t0035g0158 a0001c0001t0036g0192 a0001c0001t0037g0172 a0001c0001t0038g0173 a0001c0001t0039g0152 a0001c0001t0040g0176 a0001c0001t0041g0174 a0001c0001t0042g0182 a0001c0001t0043g0183 a0001c0001t0045g0145 a0001c0001t0046g0138 a0001c0001t0047g0178 a0001c0001t0048g0146 a0001c0001t0049g0121 a0001c0001t0050g0180 a0001c0001t0052g0184 a0001c0001t0053g0139 a0001c0001t0054g0123 a0001c0001t0055g0124 a0001c0007t0008g0023 a0001c0007t0008g0175 a0001c0011t0001g0157 a0001c0011t0001g0170 a0001c0021t0004g0130 a0001c0023t0051g0204 a0001c0026t0044g0163 a0001c0027t0001g0168 a0002c0024t0004g0131 a0002c0028t0001g0169 a0003c0005t0007g0007 a0003c0005t0030g0061 a0005c0008t0012g0043 a0005c0008t0012g0066 a0006c0010t0004g0054 a0008c0030t0001g0161 a0011c0025t0004g0149 a0013c0029t0001g0147	245	466	0.5258	19	c.78 others(30): Show c.7877_*7878insTGTCTAGGGCAGCATTTAA	JRK	ENSG00000234616.9	transcript	ENST00000612905.2	protein_coding		985		chr8	TogoVar
JTB_chr1_153969269_153982674	153980679	T T	TGTAACCC others(12): Show TGTAACCCAGCCTTGGGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	386	0.0026	19	c.-34 others(30): Show c.-3428_-3427insCGTCCCAAGGCTGGGTTAC	JTB	ENSG00000143543.15	transcript	ENST00000271843.9	protein_coding		3006		chr1	TogoVar
KALRN_chr3_124028369_124731325	124587698	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03540.hp2 NA19030.hp2 HG01243.hp1 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0019 a0001c0003 a0001c0007 a0001c0019	a0001c0003t0001 a0001c0007t0002 a0001c0019t0004 a0001c0003t0001 a0001c0007t0002 a0001c0019t0004	a0001c0003t0001g0045 a0001c0007t0002g0019 a0001c0019t0004g0104 a0001c0003t0001g0045 a0001c0007t0002g0019 a0001c0019t0004g0104	3	116	0.0259	19	c.518 others(40): Show c.5182+24616_5182+24634dupTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124642806	G G	GTTGTTTT others(12): Show GTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0016 a0001c0067t0016	a0001c0067t0016g0103 a0001c0067t0016g0103	1	116	0.0086	19	c.566 others(38): Show c.5664+5505_5664+5506insGTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124646391	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG02273.hp2 others(3): Show HG00438.hp1 HG00438.hp2 HG02273.hp2 NA18947.hp2 NA18955.hp2 NA18995.hp2	a0001 a0008 a0001 a0008	a0001c0005 a0001c0016 a0001c0022 others(2): Show a0001c0005 a0001c0016 a0001c0022 a0001c0058 a0008c0048	a0001c0005t0001 a0001c0016t0011 a0001c0022t0001 others(3): Show a0001c0005t0001 a0001c0016t0011 a0001c0022t0001 a0001c0022t0031 a0001c0058t0001 a0008c0048t0003	a0001c0005t0001g0035 a0001c0016t0011g0064 a0001c0022t0001g0008 others(3): Show a0001c0005t0001g0035 a0001c0016t0011g0064 a0001c0022t0001g0008 a0001c0022t0031g0062 a0001c0058t0001g0016 a0008c0048t0003g0007	6	116	0.0517	19	c.566 others(38): Show c.5665-4400_5665-4399insTTTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	37/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KANK1_chr9_499695_751103	671623	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp2 HG01433.hp1 others(6): Show HG00741.hp1 HG01361.hp2 HG01433.hp1 HG02132.hp1 HG03209.hp1 HG03688.hp2 NA18949.hp2 NA19002.hp1 NA19012.hp1	a0001 a0015 a0027 others(1): Show a0001 a0015 a0027 a0028	a0001c0001 a0015c0032 a0027c0051 others(1): Show a0001c0001 a0015c0032 a0027c0051 a0028c0056	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0015c0032t0002 a0027c0051t0003 a0028c0056t0003	a0001c0001t0002g0023 a0001c0001t0003g0006 a0001c0001t0003g0016 others(6): Show a0001c0001t0002g0023 a0001c0001t0003g0006 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0126 a0001c0001t0005g0242 a0015c0032t0002g0089 a0027c0051t0003g0039 a0028c0056t0003g0035	9	254	0.0354	19	c.-83 others(36): Show c.-83-5263_-83-5262insAAAAAAAAAAAAAAGAAAA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	671623	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAGAAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0008 a0001c0054t0008	a0001c0054t0008g0077 a0001c0054t0008g0077	1	254	0.0039	19	c.-83 others(36): Show c.-83-5263_-83-5262insAAAAAAAAAAAGAAGAAAA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK3_chr19_8317584_8348262	8340274	C C	CATATATA others(12): Show CATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0090 a0001c0022t0001g0090	1	406	0.0025	19	c.-28 others(36): Show c.-28-2419_-28-2418insTATATATATATATATATAT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding	1/10			chr19	TogoVar
KANK3_chr19_8317584_8348262	8346368	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	406	0.0025	19	c.-31 others(30): Show c.-3173_-3172insATATATATATATATATTTT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding		3107		chr19	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTCTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	321	0.0031	19	c.129 others(38): Show c.1290-1611_1290-1610insAAGAAAAAAAAAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46096311	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01109.hp2 others(11): Show HG00099.hp1 HG00323.hp2 HG01109.hp2 HG01928.hp1 HG02145.hp2 HG02559.hp1 HG02965.hp2 HG03017.hp2 HG03688.hp2 NA18982.hp1 NA18995.hp1 NA19000.hp1 NA19070.hp1 NA19083.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0006 a0011c0012 a0001c0001 a0001c0006 a0011c0012	a0001c0001t0002 a0001c0001t0009 a0001c0006t0004 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0006t0004 a0011c0012t0002	a0001c0001t0002g0109 a0001c0001t0002g0126 a0001c0001t0002g0130 others(11): Show a0001c0001t0002g0109 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0009g0157 a0001c0001t0009g0185 a0001c0006t0004g0111 a0001c0006t0004g0112 a0001c0006t0004g0190 a0011c0012t0002g0142	14	321	0.0436	19	c.129 others(38): Show c.1290-1629_1290-1611dupAAAAAAAAAAAAAAAAAAA	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46130187	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02602.hp2 HG02738.hp2 HG02257.hp2 HG02602.hp2 HG02738.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0309 a0003c0004t0005g0315 a0003c0004t0005g0316 a0003c0004t0005g0309 a0003c0004t0005g0315 a0003c0004t0005g0316	3	321	0.0094	19	c.129 others(40): Show c.1290-35505_1290-35487dupTTTTTTTTTTTTTTTTTTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46132881	T T	TGCAGTGA others(12): Show TGCAGTGAGCCATCATCATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01074.hp2 others(18): Show HG00140.hp1 HG00280.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp2 HG01952.hp2 HG02109.hp2 HG02257.hp2 HG02602.hp2 HG02735.hp2 HG02738.hp2 HG03239.hp1 HG03704.hp1 HG04199.hp1 NA19085.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0024 a0003c0004t0005 a0003c0004t0024	a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 others(18): Show a0003c0004t0005g0301 a0003c0004t0005g0302 a0003c0004t0005g0303 a0003c0004t0005g0304 a0003c0004t0005g0305 a0003c0004t0005g0306 a0003c0004t0005g0307 a0003c0004t0005g0308 a0003c0004t0005g0309 a0003c0004t0005g0310 a0003c0004t0005g0311 a0003c0004t0005g0312 a0003c0004t0005g0313 a0003c0004t0005g0314 a0003c0004t0005g0315 a0003c0004t0005g0316 a0003c0004t0005g0317 a0003c0004t0005g0318 a0003c0004t0005g0319 a0003c0004t0005g0320 a0003c0004t0024g0300	21	321	0.0654	19	c.128 others(40): Show c.1289+37955_1289+37973dupTATGATGATGGCTCACTGC	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	2/14			chr17	TogoVar
KANSL3_chr2_96588172_96643312	96615165	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0185 a0001c0001t0002g0185	1	340	0.0029	19	c.664 others(36): Show c.664-1565_664-1547dupTTTTTTTTTTTTTTTTTTT	KANSL3	ENSG00000114982.19	transcript	ENST00000431828.6	protein_coding	5/20			chr2	TogoVar
KANTR_chrX_53089142_53132438	53097350	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	249	0.0040	19	c.-94 others(38): Show c.-941-2120_-941-2102dupTTTTTTTTTTTTTTTTTTT	KANTR	ENSG00000232593.8	transcript	ENST00000604062.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(12): Show ATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	380	0.0026	19	c.37 others(30): Show c.3761_*3762insAAATATATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 NA18983.hp1 NA19002.hp1 others(3): Show HG01261.hp2 NA18983.hp1 NA19002.hp1 NA19002.hp2 NA19059.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0023 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0239	6	380	0.0158	19	c.37 others(30): Show c.3761_*3762insAAAAATATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG01346.hp2 HG01928.hp1 others(4): Show HG00423.hp2 HG01346.hp2 HG01928.hp1 HG02683.hp1 NA18941.hp2 NA18998.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0147	7	380	0.0184	19	c.37 others(30): Show c.3761_*3762insAAAAAAATATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 NA18968.hp2 NA18977.hp2 HG02015.hp2 NA18968.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0190 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0190	3	380	0.0079	19	c.37 others(30): Show c.3761_*3762insAAAAAAAAATATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0170 a0006c0006t0001g0170	1	380	0.0026	19	c.37 others(30): Show c.3761_*3762insAAAAAAAAAAATATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	380	0.0026	19	c.37 others(30): Show c.3761_*3762insAAAAAAAAAAAAATATATA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding		3590		chr16	TogoVar
KASH5_chr19_49383249_49422990	49386790	G G	GGGGAAGG others(12): Show GGGGAAGGGAGGGGAAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01106.hp2 HG02109.hp1 others(1): Show HG01099.hp1 HG01106.hp2 HG02109.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0002c0004 a0001c0006 a0002c0002 a0002c0004	a0001c0006t0001 a0002c0002t0001 a0002c0004t0001 a0001c0006t0001 a0002c0002t0001 a0002c0004t0001	a0001c0006t0001g0077 a0001c0006t0001g0078 a0002c0002t0001g0135 others(1): Show a0001c0006t0001g0077 a0001c0006t0001g0078 a0002c0002t0001g0135 a0002c0004t0001g0065	4	354	0.0113	19	c.-16 others(30): Show c.-1633_-1632insGGGAAGGGAGGGGAAGGGA	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding		1458		chr19	TogoVar
KASH5_chr19_49383249_49422990	49387813	C C	CGGGAGGC others(12): Show CGGGAGGCTGAGGCAGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0261 a0001c0001t0012g0261	1	354	0.0028	19	c.-61 others(28): Show c.-610_-609insGGGAGGCTGAGGCAGGAGA	KASH5	ENSG00000161609.10	transcript	ENST00000447857.8	protein_coding		435		chr19	TogoVar
KAT2B_chr3_20035446_20159404	20062309	A A	ATATATAA others(12): Show ATATATAAAATATAATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	374	0.0027	19	c.304 others(38): Show c.304-10018_304-10017insAAATATAATATATTATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20092236	T T	TTTATTTA others(12): Show TTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG02486.hp1 others(9): Show HG00741.hp1 HG01891.hp1 HG02486.hp1 HG03195.hp1 HG03516.hp1 HG03688.hp1 HG04228.hp2 NA18944.hp1 NA18957.hp2 NA18994.hp1 NA19063.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0329 a0001c0002t0001g0345 a0001c0002t0002g0032 others(9): Show a0001c0002t0001g0329 a0001c0002t0001g0345 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0038 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0316 a0001c0002t0002g0348	12	374	0.0321	19	c.431 others(36): Show c.431-3017_431-3016insATTTATTTATTATTTATTT	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20143792	A A	AATACTGC others(12): Show AATACTGCATGTTTTCTGTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	374	0.0027	19	c.200 others(38): Show c.2005-2520_2005-2502dupCTGCATGTTTTCTGTTATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20149495	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG01109.hp1 others(17): Show HG00140.hp1 HG01081.hp1 HG01109.hp1 HG01891.hp1 HG02056.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02738.hp2 HG03516.hp1 NA18939.hp1 NA18944.hp2 NA18955.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA19010.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0011 a0001c0001 a0001c0002 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0006c0011t0001	a0001c0001t0001g0072 a0001c0001t0001g0277 a0001c0001t0002g0099 others(17): Show a0001c0001t0001g0072 a0001c0001t0001g0277 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0004g0028 a0001c0002t0001g0095 a0001c0002t0001g0106 a0001c0002t0001g0149 a0001c0002t0001g0317 a0001c0002t0001g0330 a0001c0002t0002g0033 a0001c0002t0002g0038 a0001c0002t0002g0313 a0001c0002t0005g0010 a0001c0002t0005g0011 a0001c0002t0005g0012 a0001c0002t0005g0017 a0001c0002t0005g0019 a0001c0002t0006g0241 a0006c0011t0001g0188	20	374	0.0535	19	c.230 others(38): Show c.2305+1015_2305+1033dupAAAAAAAAAAAAAAAAAAA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT8_chr16_31112664_31136359	31117401	T T	TAAATAAA others(12): Show TAAATAAATAAATAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	290	0.0035	19	c.-28 others(28): Show c.-281_-280insAAATAAATAAATAAATAAA	KAT8	ENSG00000103510.20	transcript	ENST00000219797.9	protein_coding		262		chr16	TogoVar
KATNA1_chr6_149589873_149653714	149609802	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00738.hp1 HG00741.hp2 others(11): Show HG00621.hp2 HG00738.hp1 HG00741.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG02145.hp2 HG02155.hp1 HG02895.hp1 HG02897.hp2 HG03195.hp2 HG03704.hp1 NA18957.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 others(11): Show a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0234 a0001c0001t0001g0253 a0001c0001t0001g0256	14	296	0.0473	19	c.502 others(36): Show c.502-5021_502-5020insTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149613179	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02622.hp2 NA18959.hp1 others(1): Show HG01192.hp1 HG02622.hp2 NA18959.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0061 a0001c0001t0001g0094 a0001c0001t0001g0246 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0094 a0001c0001t0001g0246 a0001c0002t0001g0158	4	296	0.0135	19	c.502 others(36): Show c.502-8416_502-8398dupTTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149613200	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03669.hp2 HG03490.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0112 a0001c0001t0001g0060 a0001c0001t0001g0112	2	296	0.0068	19	c.502 others(36): Show c.502-8419_502-8418insCTTTTTTTTTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	4/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149634275	A A	AAAATAAA others(12): Show AAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	296	0.0034	19	c.163 others(36): Show c.163-1360_163-1359insATTTTATTTTATTTTATTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	2/10			chr6	TogoVar
KATNAL1_chr13_30197630_30312551	30274892	C C	CATACGCG others(12): Show CATACGCGCGCGCGCGCGCT	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0118 a0001c0001t0014g0118	1	386	0.0026	19	c.323 others(36): Show c.323+5170_323+5171insAGCGCGCGCGCGCGCGTAT	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNBL1_chr15_34135674_34215096	34137036	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 NA18970.hp1 HG02886.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0109 a0001c0001t0002g0027 a0001c0001t0001g0109 a0001c0001t0002g0027	2	344	0.0058	19	c.53 others(30): Show c.5302_*5303insTTTTTTTTTTTTTTTTTTT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding		3637		chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34188137	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	344	0.0029	19	c.-15 others(38): Show c.-15+21795_-15+21813dupTTTTTTTTTTTTTTTTTTT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9			chr15	TogoVar
KAZN_chr1_14593685_15123043	14736254	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0064 a0001c0001t0004g0064	1	146	0.0069	19	c.226 others(40): Show c.226+137031_226+137032insTGTGTGTGTGTGTGTGTGT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KAZN_chr1_14593685_15123043	14883340	G G	GAGAGAAA others(12): Show GAGAGAAAGAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0008 a0002c0007t0001g0008	1	146	0.0069	19	c.227 others(38): Show c.227-77341_227-77340insGAAAGAAAGAAAAGAAAGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883355	A A	AGGGAGGG others(12): Show AGGGAGGGAGGGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	146	0.0069	19	c.227 others(38): Show c.227-77329_227-77328insGGGAGGGAGGGAGGGAGAG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14			chr1	TogoVar
KAZN_chr1_14593685_15123043	14918707	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0005 a0006c0014t0005	a0006c0014t0005g0097 a0006c0014t0005g0097	1	146	0.0069	19	c.227 others(38): Show c.227-41976_227-41975insAAATATATATATATATATA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1993959	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02071.hp2 HG01978.hp1 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0350 a0001c0001t0001g0211 a0001c0001t0001g0350	2	389	0.0051	19	c.-90 others(38): Show c.-908-6326_-908-6325insCACACACACACACACACAC	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1			chr8	TogoVar
KBTBD12_chr3_127910232_127992666	127915220	C C	CGGGGGAC others(12): Show CGGGGGACGCTCAGTAGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0013 a0002c0003t0001g0013	1	402	0.0025	19	c.-47 others(28): Show c.-479_-478insGGGGGACGCTCAGTAGGGT	KBTBD12	ENSG00000187715.13	transcript	ENST00000405109.5	protein_coding		11		chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156143569	G G	GTTTTTTG others(12): Show GTTTTTTGGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	124	0.0081	19	c.275 others(38): Show c.275+22689_275+22690insGGTTTTTTTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156143569	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	124	0.0081	19	c.275 others(38): Show c.275+22693_275+22711dupTTTTTTTTTTTTTTTTTTT	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(12): Show CTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG01884.hp1 HG02145.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0008 a0001c0001t0001 a0004c0008t0008	a0001c0001t0001g0003 a0004c0008t0008g0051 a0001c0001t0001g0003 a0004c0008t0008g0051	2	124	0.0161	19	c.276 others(38): Show c.276-34601_276-34600insCTTTTTTTTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB2_chr1_6040888_6106180	6103274	G G	GGAGCCCT others(12): Show GGAGCCCTGGCCAGGCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	360	0.0028	19	c.47 others(30): Show c.4700_*4701insGAGCCCTGGCCAGGCTTTC	KCNAB2	ENSG00000069424.16	transcript	ENST00000378083.8	protein_coding		2095		chr1	TogoVar
KCNB1_chr20_49358877_49487668	49425670	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02970.hp1 HG02976.hp1 others(2): Show HG02559.hp2 HG02970.hp1 HG02976.hp1 HG06807.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0012 a0001c0001t0074 a0001c0001t0124 others(1): Show a0001c0001t0012 a0001c0001t0074 a0001c0001t0124 a0005c0008t0012	a0001c0001t0012g0059 a0001c0001t0012g0236 a0001c0001t0074g0079 others(2): Show a0001c0001t0012g0059 a0001c0001t0012g0236 a0001c0001t0074g0079 a0001c0001t0124g0235 a0005c0008t0012g0049	5	278	0.0180	19	c.568 others(38): Show c.568-50679_568-50678insTATATATATATATATATAT	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNB1_chr20_49358877_49487668	49425670	T T	TATATATA others(12): Show TATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG03471.hp2 HG01243.hp1 HG02630.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0063 a0001c0001t0101 a0001c0001t0004 a0001c0001t0063 a0001c0001t0101	a0001c0001t0004g0061 a0001c0001t0063g0058 a0001c0001t0101g0252 a0001c0001t0004g0061 a0001c0001t0063g0058 a0001c0001t0101g0252	3	278	0.0108	19	c.568 others(38): Show c.568-50679_568-50678insCATATATATATATATATAT	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNB2_chr8_72532225_72943349	72778733	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA20905.hp1 HG03209.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0081 a0001c0001t0003g0161 a0001c0001t0002g0081 a0001c0001t0003g0161	2	164	0.0122	19	c.580 others(40): Show c.580-157190_580-157172dupAAAAAAAAAAAAAAAAAAA	KCNB2	ENSG00000182674.6	transcript	ENST00000523207.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNC2_chr12_75035078_75214839	75086681	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03017.hp2 HG02165.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0287 a0001c0001t0001g0178 a0001c0001t0001g0287	2	316	0.0063	19	c.688 others(38): Show c.688-35365_688-35364insATATATATATATATATATA	KCNC2	ENSG00000166006.14	transcript	ENST00000549446.6	protein_coding	2/4			chr12	TogoVar

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