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
KCNJ6_chr21_37602373_37921457	37605409	C C	CACCCATC others(17): Show CACCCATCCACTCATCTACCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG06807.hp2 HG02647.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0101 a0001c0002t0161 a0001c0001t0101 a0001c0002t0161	a0001c0001t0101g0063 a0001c0002t0161g0154 a0001c0001t0101g0063 a0001c0002t0161g0154	2	198	0.0101	24	c.19 others(37): Show c.19749_*19750insAGAAGGGTAGATGAGTGGATGGGT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding		1963		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37605429	C C	CTTCTACC others(17): Show CTTCTACCCATCCACTCATCTACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0167 a0001c0001t0013g0167	1	198	0.0051	24	c.19 others(37): Show c.19729_*19730insAGGTAGATGAGTGGATGGGTAGAA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding		1943		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37607463	G G	GATATATA others(17): Show GATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0117 a0001c0001t0055g0117	1	198	0.0051	24	c.17 others(37): Show c.17695_*17696insATATATATATATATATATATATAT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	17695		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37607482	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0125	a0001c0001t0125g0026 a0001c0001t0125g0026	1	198	0.0051	24	c.17 others(37): Show c.17676_*17677insAATATATATATATATATATATATA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	17676		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37610620	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0048 a0001c0001t0027g0048	1	198	0.0051	24	c.14 others(37): Show c.14538_*14539insCTTTTTTTTTTTTTTTTTTTTTTT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	14538		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37615244	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0162 a0001c0001t0162	a0001c0001t0162g0017 a0001c0001t0162g0017	1	198	0.0051	24	c.98 others(35): Show c.9891_*9914dupAAAAAAAAAAAAAAAAAAAAAAAA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	9914		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37616590	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01256.hp2 HG02280.hp2 HG02559.hp1 others(1): Show HG01256.hp2 HG02280.hp2 HG02559.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0084 a0001c0001t0001 a0001c0001t0019 a0001c0001t0084	a0001c0001t0001g0020 a0001c0001t0001g0132 a0001c0001t0019g0032 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0132 a0001c0001t0019g0032 a0001c0001t0084g0006	4	198	0.0202	24	c.85 others(35): Show c.8545_*8568dupATATATATATATATATATATATAT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	4/4	8568		chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37630134	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18939.hp2 NA19001.hp1 HG00438.hp2 NA18939.hp2 NA19001.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0114 a0001c0003t0117 a0001c0003t0118 a0001c0003t0114 a0001c0003t0117 a0001c0003t0118	a0001c0003t0114g0116 a0001c0003t0117g0177 a0001c0003t0118g0121 a0001c0003t0114g0116 a0001c0003t0117g0177 a0001c0003t0118g0121	3	198	0.0152	24	c.947 others(41): Show c.947-4674_947-4651dupCACACACACACACACACACACACA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37853846	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0170 a0002c0005t0171 a0002c0005t0170 a0002c0005t0171	a0002c0005t0170g0136 a0002c0005t0171g0135 a0002c0005t0170g0136 a0002c0005t0171g0135	2	198	0.0101	24	c.-27 others(43): Show c.-27-13138_-27-13137insTATATATATATATATATATATATA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	1/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37853846	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01433.hp1 HG02109.hp1 others(6): Show HG00438.hp1 HG01433.hp1 HG02109.hp1 HG02976.hp2 HG03453.hp2 NA18612.hp2 NA18955.hp2 NA18957.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0021 a0001c0001t0026 a0001c0001t0049 others(6): Show a0001c0001t0021 a0001c0001t0026 a0001c0001t0049 a0001c0001t0093 a0001c0001t0094 a0001c0001t0125 a0001c0002t0017 a0001c0002t0143 a0001c0003t0111	a0001c0001t0021g0143 a0001c0001t0026g0102 a0001c0001t0049g0030 others(6): Show a0001c0001t0021g0143 a0001c0001t0026g0102 a0001c0001t0049g0030 a0001c0001t0093g0039 a0001c0001t0094g0174 a0001c0001t0125g0026 a0001c0002t0017g0022 a0001c0002t0143g0147 a0001c0003t0111g0077	9	198	0.0455	24	c.-27 others(43): Show c.-27-13138_-27-13137insTGTATATATATATATATATATACA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	1/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37853846	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02129.hp2 HG02280.hp2 others(7): Show HG00741.hp2 HG02129.hp2 HG02280.hp2 HG02559.hp2 HG02809.hp1 HG02922.hp1 HG03654.hp1 NA18522.hp1 NA18950.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0038 a0001c0001t0064 others(7): Show a0001c0001t0001 a0001c0001t0038 a0001c0001t0064 a0001c0001t0071 a0001c0001t0123 a0001c0001t0137 a0001c0001t0176 a0001c0002t0148 a0001c0002t0157 a0001c0002t0159	a0001c0001t0001g0132 a0001c0001t0038g0129 a0001c0001t0064g0101 others(7): Show a0001c0001t0001g0132 a0001c0001t0038g0129 a0001c0001t0064g0101 a0001c0001t0071g0164 a0001c0001t0123g0008 a0001c0001t0137g0031 a0001c0001t0176g0165 a0001c0002t0148g0184 a0001c0002t0157g0052 a0001c0002t0159g0058	10	198	0.0505	24	c.-27 others(43): Show c.-27-13138_-27-13137insTATATATATATATATATATATACA	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	1/3			chr21	TogoVar
KCNJ6_chr21_37602373_37921457	37853847	T T	TGTATATA others(17): Show TGTATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03486.hp2 HG03195.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0175 a0001c0001t0103 a0001c0001t0175	a0001c0001t0103g0049 a0001c0001t0175g0145 a0001c0001t0103g0049 a0001c0001t0175g0145	2	198	0.0101	24	c.-27 others(43): Show c.-27-13139_-27-13138insGTATATATATATATATATATATAC	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	1/3			chr21	TogoVar
KCNK10_chr14_88175108_88328269	88212109	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG03710.hp2 others(3): Show HG02451.hp2 HG02615.hp1 HG03710.hp2 NA18970.hp1 NA18977.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0068 a0001c0001t0112 a0001c0002t0001 others(3): Show a0001c0001t0068 a0001c0001t0112 a0001c0002t0001 a0001c0003t0001 a0001c0003t0035 a0001c0003t0077	a0001c0001t0068g0263 a0001c0001t0112g0221 a0001c0002t0001g0223 others(3): Show a0001c0001t0068g0263 a0001c0001t0112g0221 a0001c0002t0001g0223 a0001c0003t0001g0089 a0001c0003t0035g0004 a0001c0003t0077g0222	6	334	0.0180	24	c.681 others(43): Show c.681+15265_681+15266insATATATATATATATATATATATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	4/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88221301	C C	CAATAATA others(17): Show CAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0098 a0001c0009t0098	a0001c0009t0098g0106 a0001c0009t0098g0106	1	334	0.0030	24	c.681 others(41): Show c.681+6050_681+6073dupATTATTATTATTATTATTATTATT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	4/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88310155	C C	CTCATATA others(17): Show CTCATATACCATATCATATGGTATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01109.hp2 HG02055.hp2 others(3): Show HG00738.hp1 HG01109.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0004 a0001c0001t0006 a0001c0001t0030 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0030 a0001c0001t0104 a0001c0002t0023 a0002c0004t0005	a0001c0001t0004g0053 a0001c0001t0006g0258 a0001c0001t0030g0179 others(3): Show a0001c0001t0004g0053 a0001c0001t0006g0258 a0001c0001t0030g0179 a0001c0001t0104g0052 a0001c0002t0023g0217 a0002c0004t0005g0244	6	334	0.0180	24	c.52+ others(41): Show c.52+12568_52+12591dupTATACCATATGATATGGTATATGA	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88310205	G G	GATATACC others(17): Show GATATACCATATGATATGGTATATC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp2 HG02135.hp1 others(5): Show HG00323.hp1 HG01192.hp2 HG02135.hp1 HG03453.hp1 HG03927.hp1 NA18952.hp2 NA18994.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0007 a0001c0001t0033 a0001c0001t0034 others(3): Show a0001c0001t0007 a0001c0001t0033 a0001c0001t0034 a0001c0001t0048 a0001c0001t0049 a0001c0003t0035	a0001c0001t0007g0176 a0001c0001t0033g0009 a0001c0001t0033g0010 others(5): Show a0001c0001t0007g0176 a0001c0001t0033g0009 a0001c0001t0033g0010 a0001c0001t0034g0011 a0001c0001t0048g0006 a0001c0001t0049g0005 a0001c0003t0035g0004 a0001c0003t0035g0007	8	334	0.0240	24	c.52+ others(41): Show c.52+12541_52+12542insGATATACCATATCATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK10_chr14_88175108_88328269	88310229	G G	GATATACC others(17): Show GATATACCATATCATATGGTATATC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0110 a0001c0001t0027g0110	1	334	0.0030	24	c.52+ others(41): Show c.52+12517_52+12518insGATATACCATATGATATGGTATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK13_chr14_90056994_90190853	90143146	A A	ACTAACTT others(17): Show ACTAACTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA20129.hp2 HG02818.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0005 a0003c0003t0001 a0003c0003t0005	a0003c0003t0001g0186 a0003c0003t0005g0107 a0003c0003t0001g0186 a0003c0003t0005g0107	2	320	0.0063	24	c.335 others(43): Show c.335-40963_335-40962insAACTTTCTTTCTTTCTTTCTTTCT	KCNK13	ENSG00000152315.5	transcript	ENST00000282146.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
KCNK18_chr10_117192489_117215299	117192734	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 NA18988.hp1 NA19080.hp1 HG01952.hp1 NA18988.hp1 NA19080.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0000 a0003c0003t0000	a0003c0003t0000g0003 a0003c0003t0000g0003	3	430	0.0070	24	c.-47 others(35): Show c.-4755_-4754insTTTTTTTTTTTTTTTTTTTTTTTT	KCNK18	ENSG00000186795.1	transcript	ENST00000334549.1	protein_coding		4754		chr10	TogoVar
KCNK1_chr1_233609106_233677514	233613672	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02809.hp2 others(5): Show HG02109.hp1 HG02486.hp2 HG02809.hp2 HG02886.hp2 HG02976.hp2 HG03139.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014	a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 others(5): Show a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0006g0194 a0001c0001t0007g0183 a0001c0001t0014g0192	8	422	0.0190	24	c.-50 others(33): Show c.-500_-499insACACACACACACACACACACACAC	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding		433		chr1	TogoVar
KCNK1_chr1_233609106_233677514	233628760	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02109.hp2 others(14): Show HG01109.hp1 HG01891.hp2 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG03130.hp1 HG03209.hp2 HG03654.hp2 HG03927.hp2 NA18906.hp2 NA20129.hp2 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0005c0005t0001	a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0187 others(14): Show a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0002g0102 a0001c0001t0002g0242 a0001c0001t0002g0267 a0001c0001t0003g0048 a0001c0001t0003g0075 a0001c0001t0003g0136 a0001c0001t0005g0135 a0001c0001t0006g0169 a0001c0001t0007g0045 a0001c0001t0007g0185 a0001c0001t0009g0138 a0001c0001t0014g0192 a0005c0005t0001g0255	17	422	0.0403	24	c.355 others(43): Show c.355+14257_355+14258insTAATAATAATAATAATAATAATAA	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK1_chr1_233609106_233677514	233662238	C C	CCTTCTTC others(17): Show CCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	422	0.0024	24	c.356 others(41): Show c.356-4345_356-4322dupTCTTCTTCTTCTTCTTCTTCTTCT	KCNK1	ENSG00000135750.15	transcript	ENST00000366621.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215177740	A A	ATGTGTAT others(17): Show ATGTGTATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0249 a0001c0002t0016g0249	1	260	0.0039	24	c.823 others(41): Show c.823+5558_823+5559insGTGTATATATATATATATATATTT	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215230513	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0160 a0001c0001t0065g0160	1	260	0.0039	24	c.964 others(41): Show c.964-4296_964-4295insATATGTATATATATATATATATAT	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK3_chr2_26687722_26738420	26699207	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02135.hp2 NA18612.hp2 others(1): Show HG01175.hp2 HG02135.hp2 NA18612.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0001 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0052 a0001c0001t0001g0159 a0001c0001t0004g0207 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0159 a0001c0001t0004g0207 a0001c0001t0010g0051	4	336	0.0119	24	c.283 others(41): Show c.283+6072_283+6095dupAAAGAAAGAAAGAAAGAAAGAAAG	KCNK3	ENSG00000171303.8	transcript	ENST00000302909.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNK3_chr2_26687722_26738420	26734712	T T	TTTATTAT others(17): Show TTTATTATTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02027.hp2 HG02523.hp2 others(3): Show HG01496.hp1 HG02027.hp2 HG02523.hp2 HG03540.hp2 HG06807.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0087 a0001c0001t0001g0137 a0001c0001t0001g0180 others(3): Show a0001c0001t0001g0087 a0001c0001t0001g0137 a0001c0001t0001g0180 a0001c0001t0001g0279 a0001c0001t0003g0074 a0001c0001t0003g0161	6	336	0.0179	24	c.61 others(35): Show c.6144_*6145insTTATTATTATTATTATTATTATTA	KCNK3	ENSG00000171303.8	transcript	ENST00000302909.4	protein_coding		1293		chr2	TogoVar
KCNK3_chr2_26687722_26738420	26734724	A A	ATTATTAT others(17): Show ATTATTATTATTATTATTATTATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0287 a0001c0001t0008g0287	1	336	0.0030	24	c.61 others(35): Show c.6156_*6157insTTATTATTATTATTATTATTATTG	KCNK3	ENSG00000171303.8	transcript	ENST00000302909.4	protein_coding		1305		chr2	TogoVar
KCNK3_chr2_26687722_26738420	26735054	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 NA18944.hp1 NA19090.hp2 HG02818.hp2 NA18944.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0198 a0001c0001t0002g0220 a0001c0001t0002g0032 a0001c0001t0002g0198 a0001c0001t0002g0220	3	336	0.0089	24	c.64 others(35): Show c.6486_*6487insACACACACACACACACACACACAC	KCNK3	ENSG00000171303.8	transcript	ENST00000302909.4	protein_coding		1635		chr2	TogoVar
KCNK3_chr2_26687722_26738420	26735208	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01515.hp1 HG01517.hp2 others(15): Show HG00280.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG02145.hp1 HG02258.hp1 HG03239.hp2 HG03710.hp2 HG03834.hp1 HG04204.hp1 NA18944.hp1 NA18978.hp2 NA18980.hp1 NA18984.hp2 NA19004.hp1 NA19054.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0028 others(13): Show a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0188 a0001c0001t0002g0199 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0249 a0001c0001t0002g0266 a0001c0001t0005g0072 a0001c0001t0005g0097 a0001c0001t0005g0153	18	336	0.0536	24	c.66 others(35): Show c.6640_*6641insACACACACACACACACACACACAC	KCNK3	ENSG00000171303.8	transcript	ENST00000302909.4	protein_coding		1789		chr2	TogoVar
KCNK6_chr19_38314845_38337076	38328878	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG03491.hp1 NA18950.hp1 others(6): Show HG01070.hp2 HG03491.hp1 NA18950.hp1 NA18963.hp1 NA18981.hp1 NA19003.hp2 NA19010.hp2 NA19064.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0074 a0002c0002t0009 a0002c0002t0064 others(1): Show a0001c0005t0074 a0002c0002t0009 a0002c0002t0064 a0002c0002t0065	a0001c0005t0074g0014 a0002c0002t0009g0002 a0002c0002t0009g0005 others(2): Show a0001c0005t0074g0014 a0002c0002t0009g0002 a0002c0002t0009g0005 a0002c0002t0064g0005 a0002c0002t0065g0057	9	398	0.0226	24	c.14 others(35): Show c.1497_*1498insAAAGAAAGAAAGAAAGAAAGAAAG	KCNK6	ENSG00000099337.5	transcript	ENST00000263372.5	protein_coding	3/3	1498	INFO_REALIGN_3_PRIME	chr19	TogoVar
KCNK9_chr8_139612121_139708123	139637760	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01071.hp2 HG01074.hp2 others(10): Show HG00733.hp1 HG01071.hp2 HG01074.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG01884.hp2 HG01975.hp1 HG02004.hp1 HG02809.hp2 HG03239.hp1 HG03942.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0042 others(9): Show a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0105 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0002t0001g0002 a0001c0002t0001g0035 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0058 a0001c0002t0001g0079	13	322	0.0404	24	c.284 others(43): Show c.284-18685_284-18662dupGTGTGTGTGTGTGTGTGTGTGTGT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139663648	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	322	0.0031	24	c.283 others(43): Show c.283+39038_283+39061dupACACACACACACACACACACACAC	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687486	A A	ATATACAC others(17): Show ATATACACATATATTCATATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00733.hp2 HG00735.hp1 others(17): Show HG00280.hp2 HG00733.hp2 HG00735.hp1 HG01243.hp2 HG01256.hp1 HG01361.hp1 HG02257.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02735.hp1 HG03017.hp2 HG03516.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp2 NA19004.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0007 a0001c0001t0001g0072 a0001c0001t0001g0105 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0072 a0001c0001t0001g0105 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0310 a0001c0001t0004g0307 a0001c0002t0001g0008 a0001c0002t0001g0180	20	322	0.0621	24	c.283 others(43): Show c.283+15223_283+15224insCATATATATGAATATATGTGTATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139704965	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0191 a0001c0002t0001g0191	1	322	0.0031	24	c.-19 others(35): Show c.-1974_-1973insATATATATATATATATATATATAT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding		1843		chr8	TogoVar
KCNK9_chr8_139612121_139708123	139704967	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	322	0.0031	24	c.-19 others(35): Show c.-1976_-1975insATATATATATATATATATATATAT	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding		1845		chr8	TogoVar
KCNMA1_chr10_76879882_77642808	76920020	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0091 a0001c0002t0007g0091	1	106	0.0094	24	c.290 others(43): Show c.2903-4972_2903-4971insTATATATATATACACACACACACA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	76941018	G G	GAAGAAAG others(17): Show GAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02738.hp1 HG01433.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0103 a0001c0002t0002g0041 a0001c0001t0004g0103 a0001c0002t0002g0041	2	106	0.0189	24	c.290 others(43): Show c.2902+3731_2902+3754dupTCTTTCTTTCTTTCTTTCTTTCTT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	76941018	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	1	106	0.0094	24	c.290 others(43): Show c.2902+3754_2902+3755insTCTTTCTTTCTTCCTTCCTTCCTT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	76941018	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGAAGGAAGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0093 a0001c0001t0006g0093	1	106	0.0094	24	c.290 others(43): Show c.2902+3754_2902+3755insTCTTCCTTCCTTCCTTCCTTCCTT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	23/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	76969300	G G	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGGAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp1 HG02965.hp2 others(4): Show HG01243.hp2 HG01433.hp1 HG02965.hp2 HG03471.hp1 HG03486.hp1 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0011 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0011 a0001c0004t0001	a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0065 others(4): Show a0001c0001t0001g0028 a0001c0001t0001g0043 a0001c0001t0001g0065 a0001c0001t0007g0025 a0001c0001t0007g0087 a0001c0002t0011g0089 a0001c0004t0001g0063	7	106	0.0660	24	c.236 others(41): Show c.2360+673_2360+674insTTCCTTCCTCCCTTCCTTCCTTCC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	20/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77007653	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0020	1	106	0.0094	24	c.209 others(43): Show c.2092+4313_2092+4314insTATATATATATATATATATATATA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	18/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77007653	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG03453.hp2 HG00280.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0003 a0001c0002t0003 a0001c0003t0003	a0001c0002t0003g0067 a0001c0003t0003g0082 a0001c0002t0003g0067 a0001c0003t0003g0082	2	106	0.0189	24	c.209 others(43): Show c.2092+4313_2092+4314insTATATATATATATATATACACACA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	18/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77007653	G G	GTGTGTGT others(17): Show GTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0036 a0001c0004t0001g0036	1	106	0.0094	24	c.209 others(43): Show c.2092+4313_2092+4314insTATATATATATATATACACACACA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	18/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77025240	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	106	0.0094	24	c.192 others(43): Show c.1928+2582_1928+2583insTATATATATATATATATATATATA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	16/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77048108	C C	CAATAAAT others(17): Show CAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01258.hp2 HG01433.hp1 others(10): Show HG00597.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG02080.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0007 a0001c0005t0001	a0001c0001t0001g0028 a0001c0001t0001g0058 a0001c0001t0001g0060 others(10): Show a0001c0001t0001g0028 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0002g0085 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0020g0099 a0001c0002t0001g0088 a0001c0002t0002g0041 a0001c0002t0002g0051 a0001c0002t0006g0032 a0001c0002t0007g0091 a0001c0005t0001g0033	13	106	0.1226	24	c.175 others(43): Show c.1750-8495_1750-8472dupTATTTATTTATTTATTTATTTATT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	14/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77152278	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA20129.hp2 HG02559.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0038 a0001c0001t0007g0087 a0001c0001t0001g0038 a0001c0001t0007g0087	2	106	0.0189	24	c.808 others(43): Show c.808+31119_808+31142dupCACACACACACACACACACACACA	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	5/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77376948	A A	AATAAATA others(17): Show AATAAATACATACATACATACATAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0016	1	106	0.0094	24	c.540 others(43): Show c.540+26913_540+26914insGTATGTATGTATGTATGTATTTAT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	2/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77499422	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0087 a0001c0001t0007g0087	1	106	0.0094	24	c.379 others(43): Show c.379-95400_379-95399insGTGTATATATATATATATATATAT	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77506596	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	106	0.0094	24	c.379 others(45): Show c.379-102574_379-102573insACACACACACTCTCTCTCTCTCTC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar
KCNMA1_chr10_76879882_77642808	77506596	A A	AGAGAGAG others(17): Show AGAGAGAGAGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0094 a0004c0009t0001g0094	1	106	0.0094	24	c.379 others(45): Show c.379-102574_379-102573insACACACACACACACACTCTCTCTC	KCNMA1	ENSG00000156113.25	transcript	ENST00000286628.14	protein_coding	1/27			chr10	TogoVar

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