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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
KATNA1_chr6_149589873_149653714	149628821	AAAAAAAA others(4): Show AAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0269 a0001c0002t0002g0269	1	296	0.0034	-11	c.320 others(28): Show c.320+3927_320+3937delCTTTTTTTTTT	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	3/10			chr6	TogoVar
KATNA1_chr6_149589873_149653714	149631574	ACAAAAAA others(4): Show ACAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02970.hp2 HG03453.hp2 HG02615.hp2 HG02970.hp2 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0001c0001t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0001g0020 a0001c0001t0002g0021 a0003c0004t0001g0019 a0001c0001t0001g0020 a0001c0001t0002g0021 a0003c0004t0001g0019	3	296	0.0101	-11	c.320 others(28): Show c.320+1174_320+1184delGTTTTTTTTTG	KATNA1	ENSG00000186625.14	transcript	ENST00000367411.7	protein_coding	3/10			chr6	TogoVar
KATNAL1_chr13_30197630_30312551	30203518	TAAGAGGG others(4): Show TAAGAGGGAAAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0038 a0001c0001t0128g0038	1	386	0.0026	-11	c.50 others(22): Show c.5011_*5021delGTTTCCCTCTT	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	11/11	5011		chr13	TogoVar
KATNAL1_chr13_30197630_30312551	30248874	ACAGTGAA others(4): Show ACAGTGAAACCC	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	386	0.0026	-11	c.492 others(28): Show c.492+6562_492+6572delGGGTTTCACTG	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	4/10			chr13	TogoVar
KATNAL1_chr13_30197630_30312551	30277982	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0153 a0001c0001t0087g0153	1	386	0.0026	-11	c.323 others(28): Show c.323+2070_323+2080delTTTTTTTTTTT	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	3/10			chr13	TogoVar
KATNAL1_chr13_30197630_30312551	30307464	TTGCCATG others(4): Show TTGCCATGGCAG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0006 a0001c0002t0059g0006	1	386	0.0026	-11	c.-15 others(20): Show c.-159_-149delCTGCCATGGCA	KATNAL1	ENSG00000102781.14	transcript	ENST00000380615.8	protein_coding	1/11	23688		chr13	TogoVar
KATNBL1_chr15_34135674_34215096	34137036	GAAAAAAA others(4): Show GAAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01192.hp2 others(10): Show HG00140.hp2 HG00735.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0122 others(10): Show a0001c0001t0001g0031 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0001g0192	13	344	0.0378	-11	c.52 others(22): Show c.5292_*5302delTTTTTTTTTTT	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding		3637		chr15	TogoVar
KATNBL1_chr15_34135674_34215096	34151436	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00738.hp1 others(90): Show HG00544.hp2 HG00597.hp1 HG00738.hp1 HG01109.hp1 HG01109.hp2 HG01496.hp1 HG01884.hp2 HG01952.hp2 HG01981.hp1 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp2 NA18954.hp1 NA18957.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp1 NA18970.hp2 NA18974.hp1 NA18977.hp1 NA18981.hp1 NA18990.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19064.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19086.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0014 a0002c0002t0002	a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0052 others(90): Show a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0052 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0006g0277 a0001c0001t0014g0342 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0231	93	344	0.2704	-11	c.438 others(28): Show c.438+1343_438+1353delAAAAAAAAAAA	KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	4/9			chr15	TogoVar
KATNIP_chr16_27545144_27785344	27592270	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG02818.hp1 HG01243.hp2 HG02717.hp1 HG02818.hp1	a0001 a0012 a0001 a0012	a0001c0011 a0012c0033 a0001c0011 a0012c0033	a0001c0011t0002 a0012c0033t0002 a0001c0011t0002 a0012c0033t0002	a0001c0011t0002g0141 a0001c0011t0002g0152 a0012c0033t0002g0142 a0001c0011t0002g0141 a0001c0011t0002g0152 a0012c0033t0002g0142	3	152	0.0197	-11	c.63+ others(28): Show c.63+18334_63+18344delTTTTTTTTTTT	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27597402	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	152	0.0066	-11	c.64- others(28): Show c.64-21004_64-20994delTTTTTTTTTTT	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27663152	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0004 a0001c0028t0004	a0001c0028t0004g0109 a0001c0028t0004g0109	1	152	0.0066	-11	c.540 others(30): Show c.540+14431_540+14441delTTTTTTTTTTT	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	6/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27690352	AGATAGAT others(4): Show AGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01106.hp1 HG01261.hp2 others(7): Show HG00099.hp1 HG01106.hp1 HG01261.hp2 HG01978.hp2 HG02273.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG03453.hp1 NA21309.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0012	a0001c0018 a0003c0003 a0007c0010 others(1): Show a0001c0018 a0003c0003 a0007c0010 a0012c0033	a0001c0018t0011 a0003c0003t0001 a0003c0003t0002 others(2): Show a0001c0018t0011 a0003c0003t0001 a0003c0003t0002 a0007c0010t0002 a0012c0033t0002	a0001c0018t0011g0122 a0003c0003t0001g0127 a0003c0003t0002g0125 others(7): Show a0001c0018t0011g0122 a0003c0003t0001g0127 a0003c0003t0002g0125 a0003c0003t0002g0128 a0003c0003t0002g0139 a0003c0003t0002g0140 a0007c0010t0002g0112 a0007c0010t0002g0113 a0007c0010t0002g0114 a0012c0033t0002g0142	10	152	0.0658	-11	c.941 others(28): Show c.941-7964_941-7954delGATAGATAGAT	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27699005	AGGAGGAT others(4): Show AGGAGGATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0003 a0002c0029t0003	a0002c0029t0003g0101 a0002c0029t0003g0101	1	152	0.0066	-11	c.111 others(28): Show c.1113+508_1114-516delAGGATAAATGG	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	9/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27782555	ACCCAGAA others(4): Show ACCCAGAAGGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0012 a0001c0015t0001g0012	1	152	0.0066	-11	c.39 others(22): Show c.3927_*3937delCCCAGAAGGAC	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding		2212		chr16	TogoVar
KAZN_chr1_14593685_15123043	14681653	ATATATTT others(4): Show ATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0093 a0001c0001t0025g0093	1	146	0.0069	-11	c.226 others(30): Show c.226+82432_226+82442delATATTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14681657	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	146	0.0069	-11	c.226 others(30): Show c.226+82461_226+82471delTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14727450	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18971.hp2 HG03834.hp2 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0015 a0002c0004t0024 a0001c0001t0015 a0002c0004t0024	a0001c0001t0015g0080 a0002c0004t0024g0059 a0001c0001t0015g0080 a0002c0004t0024g0059	2	146	0.0137	-11	c.226 others(32): Show c.226+128263_226+128273delTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14789760	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02976.hp2 HG01071.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0144 a0001c0001t0002g0145	2	146	0.0137	-11	c.227 others(32): Show c.227-170897_227-170887delAAAAAAAAAAA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14798416	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01255.hp1 HG02615.hp2 others(2): Show HG01169.hp2 HG01255.hp1 HG02615.hp2 HG02717.hp2 HG03195.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001	a0001c0001t0002g0035 a0001c0001t0002g0137 a0001c0001t0003g0056 others(2): Show a0001c0001t0002g0035 a0001c0001t0002g0137 a0001c0001t0003g0056 a0001c0001t0005g0070 a0002c0002t0001g0084	5	146	0.0343	-11	c.227 others(32): Show c.227-162249_227-162239delTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14924044	CGGCGGGG others(4): Show CGGCGGGGCGGG	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0104 a0002c0002t0001g0104	1	146	0.0069	-11	c.227 others(30): Show c.227-36619_227-36609delGGGGCGGGGCG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14940898	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	146	0.0069	-11	c.227 others(30): Show c.227-19765_227-19755delTTTTTTTTTTT	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14993086	CAAAGTGC others(4): Show CAAAGTGCTGGG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp2 HG03041.hp1 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0047 a0002c0002t0001g0013 a0002c0002t0001g0047	2	146	0.0137	-11	c.418 others(30): Show c.418+32213_418+32223delAAGTGCTGGGA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14999497	CCCCTCCC others(4): Show CCCCTCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02717.hp2 others(3): Show HG01891.hp1 HG02109.hp1 HG02717.hp2 HG02965.hp1 HG03209.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0013 others(1): Show a0001c0001 a0001c0003 a0001c0013 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0003t0004 a0001c0013t0021 a0002c0002t0001	a0001c0001t0002g0137 a0001c0001t0004g0063 a0001c0001t0008g0043 others(3): Show a0001c0001t0002g0137 a0001c0001t0004g0063 a0001c0001t0008g0043 a0001c0003t0004g0141 a0001c0013t0021g0051 a0002c0002t0001g0057	6	146	0.0411	-11	c.419 others(30): Show c.419-35248_419-35238delTCCCCCCGCCC	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15048652	CGTCGGTC others(4): Show CGTCGGTCCTGG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03492.hp2 HG03834.hp2 HG03225.hp2 HG03492.hp2 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0009 a0002c0004t0001 a0002c0004t0024 a0001c0001t0009 a0002c0004t0001 a0002c0004t0024	a0001c0001t0009g0033 a0002c0004t0001g0089 a0002c0004t0024g0059 a0001c0001t0009g0033 a0002c0004t0001g0089 a0002c0004t0024g0059	3	146	0.0206	-11	c.726 others(28): Show c.726+4498_726+4508delGTCCTGGGTCG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15048697	TGATCCTT others(4): Show TGATCCTTGGTC	T T	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03834.hp2 HG03492.hp2 HG03834.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0024 a0002c0004t0001 a0002c0004t0024	a0002c0004t0001g0089 a0002c0004t0024g0059 a0002c0004t0001g0089 a0002c0004t0024g0059	2	146	0.0137	-11	c.726 others(28): Show c.726+4540_726+4550delATCCTTGGTCG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15048865	TGGTCCTG others(4): Show TGGTCCTGGGTC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0033 a0001c0001t0009g0033	1	146	0.0069	-11	c.726 others(28): Show c.726+4708_726+4718delGTCCTGGGTCG	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	15089732	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp2 HG02622.hp2 others(6): Show HG00642.hp2 HG01192.hp2 HG02622.hp2 HG02738.hp2 HG03017.hp2 HG03225.hp2 HG03492.hp1 HG03654.hp2 HG06807.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007 a0003c0010	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0003t0002 a0002c0002t0001 a0002c0007t0001 a0003c0010t0002	a0001c0001t0002g0026 a0001c0001t0003g0005 a0001c0001t0004g0064 others(6): Show a0001c0001t0002g0026 a0001c0001t0003g0005 a0001c0001t0004g0064 a0001c0001t0009g0033 a0001c0003t0002g0002 a0002c0002t0001g0124 a0002c0007t0001g0001 a0002c0007t0001g0008 a0003c0010t0002g0066	9	146	0.0616	-11	c.122 others(30): Show c.1223-4428_1223-4418delAAAAAAAAAAA	KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KBTBD11_chr8_1968677_2011936	1984279	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG01261.hp1 HG00738.hp2 HG01167.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0022 a0001c0001t0016 a0001c0001t0022	a0001c0001t0016g0179 a0001c0001t0022g0177 a0001c0001t0022g0178 a0001c0001t0016g0179 a0001c0001t0022g0177 a0001c0001t0022g0178	3	389	0.0077	-11	c.-90 others(32): Show c.-909+10361_-909+10371delTTTTTTTTTTT	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD12_chr3_127910232_127992666	127945164	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18984.hp2 NA18942.hp2 NA18984.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0068 a0003c0002t0002g0070 a0003c0002t0002g0068 a0003c0002t0002g0070	2	402	0.0050	-11	c.149 others(32): Show c.1492+14909_1492+14919delTTTTTTTTTTT	KBTBD12	ENSG00000187715.13	transcript	ENST00000405109.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
KBTBD13_chr15_65071746_65084948	65079706	TCCATCCC others(4): Show TCCATCCCCCAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0000 a0001c0001t0015g0000	1	382	0.0026	-11	c.15 others(22): Show c.1515_*1525delCCATCCCCCAG	KBTBD13	ENSG00000234438.5	transcript	ENST00000432196.5	protein_coding	1/1	1515		chr15	TogoVar
KBTBD13_chr15_65071746_65084948	65084646	AGGCACAG others(4): Show AGGCACAGTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02922.hp1 NA20129.hp1 HG02055.hp2 HG02922.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	382	0.0079	-11	c.64 others(22): Show c.6455_*6465delGGCACAGTTTT	KBTBD13	ENSG00000234438.5	transcript	ENST00000432196.5	protein_coding		4699		chr15	TogoVar
KBTBD2_chr7_32863172_32896760	32866817	AAAAAAAA others(4): Show AAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00642.hp2 others(42): Show HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01109.hp1 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp2 HG02129.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02970.hp1 HG03017.hp1 HG03209.hp2 HG03491.hp2 HG03516.hp2 HG03704.hp1 HG03927.hp2 NA18940.hp2 NA18959.hp1 NA18964.hp1 NA18967.hp1 NA18971.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18983.hp2 NA18993.hp1 NA18999.hp2 NA19003.hp1 NA19059.hp1 NA19065.hp2 NA19085.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0017 a0001c0001t0022	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 others(25): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0011g0048 a0001c0001t0017g0157 a0001c0001t0022g0216	45	434	0.1037	-11	c.25 others(22): Show c.2517_*2527delCTTTTTTTTTT	KBTBD2	ENSG00000170852.12	transcript	ENST00000304056.9	protein_coding		1354		chr7	TogoVar
KCMF1_chr2_84966161_85064472	84974689	ATATTTTT others(4): Show ATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0223 a0001c0001t0003g0223	1	274	0.0037	-11	c.16+ others(26): Show c.16+3224_16+3234delATTTTTTTTTT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84982389	CTTTTTTT others(4): Show CTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02896.hp2 HG02976.hp1 others(3): Show HG02055.hp1 HG02896.hp2 HG02976.hp1 HG03098.hp1 HG03453.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0061 a0001c0001t0069 a0001c0001t0073 others(3): Show a0001c0001t0061 a0001c0001t0069 a0001c0001t0073 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072	a0001c0001t0061g0194 a0001c0001t0069g0193 a0001c0001t0073g0192 others(3): Show a0001c0001t0061g0194 a0001c0001t0069g0193 a0001c0001t0073g0192 a0001c0002t0070g0188 a0001c0002t0071g0191 a0001c0002t0072g0190	6	274	0.0219	-11	c.16+ others(28): Show c.16+10945_16+10955delTTTTTTTTTTT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCMF1_chr2_84966161_85064472	84994931	CATTTTAA others(4): Show CATTTTAATGAT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	274	0.0037	-11	c.16+ others(28): Show c.16+23473_16+23483delGATATTTTAAT	KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
KCNA10_chr1_110512217_110524175	110520682	AGCTCTGT others(4): Show AGCTCTGTGTTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	448	0.0022	-11	c.-19 others(22): Show c.-1906_-1896delCAACACAGAGC	KCNA10	ENSG00000143105.7	transcript	ENST00000369771.4	protein_coding		1508		chr1	TogoVar
KCNA4_chr11_30004730_30022030	30020760	GCCCAGCC others(4): Show GCCCAGCCCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	-11	c.-49 others(22): Show c.-4982_-4972delGAGGGGCTGGG	KCNA4	ENSG00000182255.7	transcript	ENST00000328224.7	protein_coding		3731		chr11	TogoVar
KCNA5_chr12_5038879_5051788	5049286	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(187): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19067.hp2 NA19072.hp1 NA19074.hp1 NA19077.hp2 NA19078.hp1 NA19080.hp2 NA19084.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0009 others(3): Show a0001 a0003 a0009 a0011 a0012 a0013	a0001c0001 a0001c0002 a0001c0009 others(6): Show a0001c0001 a0001c0002 a0001c0009 a0001c0017 a0003c0005 a0009c0013 a0011c0021 a0012c0020 a0013c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0009t0001 a0001c0017t0001 a0003c0005t0001 a0009c0013t0001 a0011c0021t0001 a0012c0020t0001 a0013c0010t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(10): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 a0001c0002t0001g0000 a0001c0009t0001g0000 a0001c0017t0001g0000 a0003c0005t0001g0000 a0009c0013t0001g0000 a0011c0021t0001g0000 a0012c0020t0001g0000 a0013c0010t0002g0000	190	452	0.4204	-11	c.32 others(22): Show c.3298_*3308delAAAAAAAAAAA	KCNA5	ENSG00000130037.5	transcript	ENST00000252321.5	protein_coding		2499		chr12	TogoVar
KCNAB1_chr3_156115578_156543605	156143569	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	124	0.0081	-11	c.275 others(30): Show c.275+22701_275+22711delTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156179000	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01106.hp1 others(32): Show HG01069.hp1 HG01070.hp2 HG01106.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01884.hp1 HG02027.hp1 HG02055.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02258.hp2 HG02280.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03453.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03834.hp2 HG04115.hp2 NA18942.hp2 NA18954.hp1 NA18954.hp2 NA19011.hp2 NA19030.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0007t0009	a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0038 others(32): Show a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0098 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0004g0099 a0001c0001t0005g0087 a0001c0001t0005g0101 a0001c0001t0005g0110 a0001c0001t0006g0045 a0001c0001t0006g0100 a0001c0001t0006g0102 a0001c0002t0002g0082 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0107 a0001c0002t0002g0109 a0001c0002t0002g0112 a0001c0002t0002g0122 a0001c0002t0003g0080 a0001c0002t0007g0111 a0001c0002t0008g0001 a0001c0002t0013g0104 a0001c0007t0009g0119	35	124	0.2823	-11	c.275 others(30): Show c.275+58131_275+58141delAAAAAAAAAAA	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156206847	TTGGAAAA others(4): Show TTGGAAAAAATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	124	0.0081	-11	c.275 others(30): Show c.275+85972_275+85982delATGGAAAAAAT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156240924	GGAGCTTA others(4): Show GGAGCTTAATTC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01361.hp1 HG02083.hp2 others(3): Show HG01261.hp2 HG01361.hp1 HG02083.hp2 HG02922.hp1 NA18954.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0011 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0002t0003 a0001c0007t0001	a0001c0001t0001g0011 a0001c0001t0001g0098 a0001c0001t0011g0037 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0098 a0001c0001t0011g0037 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0007t0001g0044	6	124	0.0484	-11	c.275 others(32): Show c.275+120039_275+120049delGAGCTTAATTC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13			chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156247135	TCAGTTGG others(4): Show TCAGTTGGCAGA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0022 a0001c0011t0003g0022	1	124	0.0081	-11	c.275 others(32): Show c.275+126251_275+126261delAGTTGGCAGAC	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156369004	GTTAGTTT others(4): Show GTTAGTTTTTCA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	124	0.0081	-11	c.276 others(30): Show c.276-52610_276-52600delTAGTTTTTCAT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156439224	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02738.hp2 NA21309.hp1 HG02451.hp2 HG02738.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0065 a0001c0001t0002g0077 a0001c0001t0002g0085 a0001c0001t0001g0065 a0001c0001t0002g0077 a0001c0001t0002g0085	3	124	0.0242	-11	c.320 others(30): Show c.320-13661_320-13651delTTTTTTTTTTT	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156524746	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA20905.hp1 HG02083.hp2 NA20905.hp1	a0001 a0001	a0001c0007 a0001c0009 a0001c0007 a0001c0009	a0001c0007t0001 a0001c0009t0002 a0001c0007t0001 a0001c0009t0002	a0001c0007t0001g0044 a0001c0009t0002g0005 a0001c0007t0001g0044 a0001c0009t0002g0005	2	124	0.0161	-11	c.108 others(28): Show c.1081+819_1081+829delAAAAAAAAAAA	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNAB1_chr3_156115578_156543605	156542624	TAAGAAAA others(4): Show TAAGAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02258.hp2 HG02572.hp2 others(6): Show HG02083.hp2 HG02258.hp2 HG02572.hp2 HG02738.hp2 HG02965.hp1 HG03041.hp2 HG03195.hp2 HG04115.hp1 NA19011.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0004 a0001c0001 a0001c0007 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0007t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0007t0001 a0002c0004t0004	a0001c0001t0002g0085 a0001c0001t0004g0013 a0001c0001t0004g0043 others(6): Show a0001c0001t0002g0085 a0001c0001t0004g0013 a0001c0001t0004g0043 a0001c0001t0004g0059 a0001c0001t0004g0072 a0001c0001t0004g0099 a0001c0001t0004g0116 a0001c0007t0001g0044 a0002c0004t0004g0032	9	124	0.0726	-11	c.58 others(22): Show c.5878_*5888delAAGAAAAAAAA	KCNAB1	ENSG00000169282.19	transcript	ENST00000490337.6	protein_coding		4020		chr3	TogoVar
KCNB1_chr20_49358877_49487668	49379340	GTTTTTTT others(4): Show GTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG04204.hp2 HG03654.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0067 a0001c0001t0057 a0001c0001t0067	a0001c0001t0057g0141 a0001c0001t0067g0085 a0001c0001t0057g0141 a0001c0001t0067g0085	2	278	0.0072	-11	c.568 others(28): Show c.568-4359_568-4349delAAAAAAAAAAA	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNB1_chr20_49358877_49487668	49411342	AGAGATAA others(4): Show AGAGATAACTGT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03927.hp1 HG03669.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0059 a0001c0001t0001 a0001c0001t0059	a0001c0001t0001g0030 a0001c0001t0059g0010 a0001c0001t0001g0030 a0001c0001t0059g0010	2	278	0.0072	-11	c.568 others(30): Show c.568-36361_568-36351delACAGTTATCTC	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar
KCNB1_chr20_49358877_49487668	49455356	ATTTTTTT others(4): Show ATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01433.hp2 HG01496.hp2 others(10): Show HG00323.hp1 HG01433.hp2 HG01496.hp2 HG02129.hp2 HG02622.hp2 HG04184.hp1 NA18964.hp1 NA18970.hp2 NA18979.hp1 NA18985.hp1 NA19074.hp1 NA19083.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 others(10): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0050 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0062 a0001c0001t0065 a0001c0001t0068	a0001c0001t0003g0208 a0001c0001t0005g0023 a0001c0001t0011g0142 others(10): Show a0001c0001t0003g0208 a0001c0001t0005g0023 a0001c0001t0011g0142 a0001c0001t0013g0121 a0001c0001t0015g0146 a0001c0001t0018g0120 a0001c0001t0050g0022 a0001c0001t0054g0101 a0001c0001t0055g0118 a0001c0001t0058g0173 a0001c0001t0062g0119 a0001c0001t0065g0199 a0001c0001t0068g0241	13	278	0.0468	-11	c.567 others(30): Show c.567+26547_567+26557delAAAAAAAAAAA	KCNB1	ENSG00000158445.10	transcript	ENST00000371741.6	protein_coding	1/1			chr20	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)