JoGo: Joint Open Genome and Omics Platform

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.

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
ITSN2_chr2_24197864_24365536	24320525	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0037 a0002c0007t0001g0037	1	224	0.0045	-17	c.32- others(32): Show c.32-5318_32-5302delTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	2/39			chr2	TogoVar
IYD_chr6_150364012_150410969	150367973	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01175.hp1 HG01192.hp2 others(15): Show HG00408.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01934.hp2 HG01981.hp1 HG02055.hp2 HG02071.hp2 HG02293.hp2 HG02622.hp2 HG02717.hp2 HG03486.hp1 HG03927.hp1 NA18612.hp1 NA18906.hp2 NA18986.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0033 a0001c0001t0034 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0083 a0001c0001t0087 a0001c0001t0106 a0001c0001t0108	a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0054 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0054 a0001c0001t0001g0307 a0001c0001t0002g0003 a0001c0001t0002g0131 a0001c0001t0008g0109 a0001c0001t0010g0052 a0001c0001t0010g0277 a0001c0001t0033g0049 a0001c0001t0034g0293 a0001c0001t0073g0007 a0001c0001t0074g0030 a0001c0001t0075g0275 a0001c0001t0083g0006 a0001c0001t0087g0030 a0001c0001t0106g0024 a0001c0001t0108g0103	18	414	0.0435	-17	c.-10 others(28): Show c.-1058_-1042delTTTCTTTCTTTCTTTCT	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding		1038		chr6	TogoVar
JADE2_chr5_134520670_134588227	134587997	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00558.hp2 others(85): Show HG00280.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01192.hp2 HG01358.hp2 HG01496.hp1 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02451.hp1 HG02572.hp2 HG02698.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03209.hp1 HG03710.hp1 HG03927.hp1 NA18522.hp2 NA18612.hp2 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18950.hp2 NA18955.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18980.hp1 NA18981.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(33): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0032 a0001c0001t0038 a0001c0001t0041 a0001c0001t0050 a0001c0001t0051 a0001c0001t0057 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0074 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0013 a0001c0002t0014 a0001c0002t0020 a0001c0002t0023 a0001c0002t0024 a0001c0002t0039 a0001c0002t0053 a0001c0002t0066 a0001c0002t0073	a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0047 others(81): Show a0001c0001t0003g0007 a0001c0001t0003g0013 a0001c0001t0003g0047 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0145 a0001c0001t0003g0151 a0001c0001t0004g0015 a0001c0001t0004g0098 a0001c0001t0004g0162 a0001c0001t0005g0342 a0001c0001t0007g0270 a0001c0001t0007g0296 a0001c0001t0008g0277 a0001c0001t0008g0304 a0001c0001t0013g0023 a0001c0001t0013g0057 a0001c0001t0013g0066 a0001c0001t0013g0081 a0001c0001t0013g0083 a0001c0001t0013g0084 a0001c0001t0013g0085 a0001c0001t0015g0034 a0001c0001t0015g0038 a0001c0001t0017g0324 a0001c0001t0020g0022 a0001c0001t0020g0174 a0001c0001t0021g0021 a0001c0001t0021g0110 a0001c0001t0021g0111 a0001c0001t0025g0056 a0001c0001t0025g0089 a0001c0001t0026g0199 a0001c0001t0028g0149 a0001c0001t0028g0194 a0001c0001t0031g0338 a0001c0001t0031g0347 a0001c0001t0032g0329 a0001c0001t0032g0340 a0001c0001t0038g0211 a0001c0001t0041g0154 a0001c0001t0050g0217 a0001c0001t0051g0106 a0001c0001t0057g0309 a0001c0001t0063g0337 a0001c0001t0064g0224 a0001c0001t0065g0250 a0001c0001t0074g0053 a0001c0002t0004g0147 a0001c0002t0007g0018 a0001c0002t0007g0227 a0001c0002t0007g0228 a0001c0002t0007g0237 a0001c0002t0007g0239 a0001c0002t0007g0240 a0001c0002t0007g0242 a0001c0002t0007g0257 a0001c0002t0007g0262 a0001c0002t0007g0268 a0001c0002t0007g0269 a0001c0002t0007g0276 a0001c0002t0007g0285 a0001c0002t0007g0289 a0001c0002t0008g0017 a0001c0002t0008g0303 a0001c0002t0013g0043 a0001c0002t0014g0235 a0001c0002t0014g0248 a0001c0002t0014g0279 a0001c0002t0014g0293 a0001c0002t0020g0183 a0001c0002t0023g0222 a0001c0002t0023g0353 a0001c0002t0024g0225 a0001c0002t0024g0245 a0001c0002t0024g0251 a0001c0002t0039g0176 a0001c0002t0053g0229 a0001c0002t0066g0249 a0001c0002t0073g0058	88	388	0.2268	-17	c.86 others(28): Show c.8681_*8697delAAAAAAAAAAAAAAAAA	JADE2	ENSG00000043143.22	transcript	ENST00000681547.2	protein_coding		4771		chr5	TogoVar
JAG1_chr20_10632684_10678999	10669547	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18522.hp1 HG02280.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0016 a0001c0005 a0001c0016	a0001c0005t0006 a0001c0016t0006 a0001c0005t0006 a0001c0016t0006	a0001c0005t0006g0180 a0001c0016t0006g0129 a0001c0005t0006g0180 a0001c0016t0006g0129	2	412	0.0049	-17	c.387 others(34): Show c.387+3137_387+3153delTTTTTTTTTTTTTTTTT	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding	2/25			chr20	TogoVar
JAG2_chr14_105135995_105173776	105163021	AGGTCCAG others(10): Show AGGTCCAGGGCCCTGCAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp2 HG02109.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0022 a0001c0001 a0001c0022	a0001c0001t0009 a0001c0022t0009 a0001c0001t0009 a0001c0022t0009	a0001c0001t0009g0049 a0001c0022t0009g0137 a0001c0001t0009g0049 a0001c0022t0009g0137	2	364	0.0055	-17	c.417 others(34): Show c.417+4719_417+4735delGTGCAGGGCCCTGGACC	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
JAGN1_chr3_9885610_9899349	9891042	CGCGTGGG others(10): Show CGCGTGGGCTCCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02148.hp1 NA20300.hp1 HG01433.hp2 HG02148.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	3	400	0.0075	-17	c.89+ others(30): Show c.89+245_89+261delCCCTGCGTGGGCTCCCG	JAGN1	ENSG00000171135.15	transcript	ENST00000647897.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
JAK1_chr1_64828229_64971549	64897526	GAGGGAGG others(10): Show GAGGGAGGAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19054.hp1 NA18974.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0099 a0001c0002t0002g0142 a0001c0002t0002g0099 a0001c0002t0002g0142	2	326	0.0061	-17	c.-77 others(36): Show c.-77-11202_-77-11186delTCCTCCTCCTCCTCCCT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	1/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	4981946	AATGATGT others(10): Show AATGATGTTTTCAGTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0053 a0001c0003t0044g0053	1	364	0.0028	-17	c.-37 others(28): Show c.-3792_-3776delATGATGTTTTCAGTCTC	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding		3325		chr9	TogoVar
JAK2_chr9_4980272_5134948	5005083	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp2 HG01168.hp2 others(14): Show HG00639.hp2 HG00741.hp2 HG01168.hp2 HG01358.hp1 HG01884.hp2 HG02615.hp2 HG02922.hp2 HG02976.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp2 NA18522.hp1 NA18990.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(1): Show a0001c0002 a0001c0003 a0001c0004 a0001c0015	a0001c0002t0005 a0001c0002t0042 a0001c0003t0003 others(5): Show a0001c0002t0005 a0001c0002t0042 a0001c0003t0003 a0001c0003t0021 a0001c0004t0006 a0001c0004t0031 a0001c0004t0052 a0001c0015t0004	a0001c0002t0005g0287 a0001c0002t0042g0022 a0001c0003t0003g0312 others(14): Show a0001c0002t0005g0287 a0001c0002t0042g0022 a0001c0003t0003g0312 a0001c0003t0003g0313 a0001c0003t0021g0025 a0001c0004t0006g0006 a0001c0004t0006g0037 a0001c0004t0006g0038 a0001c0004t0006g0039 a0001c0004t0006g0040 a0001c0004t0006g0041 a0001c0004t0006g0049 a0001c0004t0006g0057 a0001c0004t0031g0042 a0001c0004t0031g0043 a0001c0004t0052g0044 a0001c0015t0004g0179	17	364	0.0467	-17	c.-25 others(36): Show c.-25-16847_-25-16831delTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5062500	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00738.hp1 others(53): Show HG00280.hp1 HG00323.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG01978.hp2 HG02004.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02293.hp2 HG02300.hp1 HG02615.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG04199.hp2 HG06807.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp1 NA18949.hp2 NA18963.hp2 NA18969.hp1 NA18989.hp1 NA18990.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19063.hp1 NA19066.hp2 NA19075.hp2 NA19080.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0008 a0001c0017 others(1): Show a0001c0003 a0001c0008 a0001c0017 a0002c0006	a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 others(7): Show a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0011 a0001c0003t0027 a0001c0003t0028 a0001c0003t0059 a0001c0008t0003 a0001c0017t0011 a0002c0006t0003	a0001c0003t0003g0004 a0001c0003t0003g0156 a0001c0003t0003g0188 others(52): Show a0001c0003t0003g0004 a0001c0003t0003g0156 a0001c0003t0003g0188 a0001c0003t0003g0295 a0001c0003t0003g0296 a0001c0003t0003g0297 a0001c0003t0003g0298 a0001c0003t0003g0302 a0001c0003t0003g0305 a0001c0003t0003g0306 a0001c0003t0003g0309 a0001c0003t0003g0310 a0001c0003t0003g0311 a0001c0003t0003g0312 a0001c0003t0003g0313 a0001c0003t0003g0315 a0001c0003t0003g0316 a0001c0003t0003g0317 a0001c0003t0003g0318 a0001c0003t0003g0319 a0001c0003t0003g0321 a0001c0003t0003g0323 a0001c0003t0003g0324 a0001c0003t0003g0325 a0001c0003t0003g0327 a0001c0003t0003g0329 a0001c0003t0003g0330 a0001c0003t0003g0331 a0001c0003t0003g0332 a0001c0003t0003g0333 a0001c0003t0003g0336 a0001c0003t0003g0337 a0001c0003t0003g0338 a0001c0003t0003g0347 a0001c0003t0003g0349 a0001c0003t0003g0354 a0001c0003t0003g0356 a0001c0003t0004g0307 a0001c0003t0004g0334 a0001c0003t0004g0350 a0001c0003t0005g0340 a0001c0003t0005g0346 a0001c0003t0011g0322 a0001c0003t0027g0335 a0001c0003t0027g0344 a0001c0003t0028g0314 a0001c0003t0028g0355 a0001c0003t0059g0348 a0001c0008t0003g0328 a0001c0008t0003g0339 a0001c0017t0011g0326 a0002c0006t0003g0308 a0002c0006t0003g0341 a0002c0006t0003g0342 a0002c0006t0003g0343	56	364	0.1539	-17	c.105 others(36): Show c.1057-2368_1057-2352delAAAAAAAAAAAAAAAAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK2_chr9_4980272_5134948	5103221	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0050 a0001c0018t0050	a0001c0018t0050g0147 a0001c0018t0050g0147	1	364	0.0028	-17	c.305 others(38): Show c.3059+12328_3059+12344delAAAAAAAAAAAAAAAAA	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	22/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK3_chr19_17819782_17852982	17827717	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01123.hp1 HG02027.hp1 others(7): Show HG00544.hp2 HG01123.hp1 HG02027.hp1 HG02135.hp1 HG02486.hp2 HG03491.hp2 HG03927.hp1 NA18963.hp2 NA19082.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002	a0001c0001t0014 a0001c0001t0023 a0001c0001t0039 others(6): Show a0001c0001t0014 a0001c0001t0023 a0001c0001t0039 a0001c0005t0017 a0001c0007t0012 a0001c0007t0025 a0002c0002t0002 a0002c0002t0014 a0002c0002t0039	a0001c0001t0014g0084 a0001c0001t0014g0176 a0001c0001t0023g0326 others(7): Show a0001c0001t0014g0084 a0001c0001t0014g0176 a0001c0001t0023g0326 a0001c0001t0039g0177 a0001c0005t0017g0180 a0001c0007t0012g0151 a0001c0007t0025g0178 a0002c0002t0002g0185 a0002c0002t0014g0171 a0002c0002t0039g0141	10	414	0.0242	-17	c.320 others(34): Show c.3208-824_3208-808delTTTTTTTTTTTTTTTTT	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/23			chr19	TogoVar
JAKMIP3_chr10_132060946_132189858	132080503	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp2 HG01256.hp2 others(17): Show HG00423.hp1 HG00642.hp2 HG01256.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02132.hp2 HG02155.hp2 HG02165.hp2 HG03098.hp2 HG03927.hp1 NA18944.hp1 NA18952.hp1 NA18954.hp2 NA18966.hp1 NA18983.hp2 NA19004.hp1 NA19081.hp2 NA19088.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0022 a0002c0023 a0003c0003 others(6): Show a0001c0022 a0002c0023 a0003c0003 a0003c0020 a0004c0007 a0004c0009 a0004c0014 a0004c0027 a0004c0028	a0001c0022t0002 a0002c0023t0001 a0002c0023t0003 others(10): Show a0001c0022t0002 a0002c0023t0001 a0002c0023t0003 a0003c0003t0001 a0003c0003t0005 a0003c0003t0012 a0003c0020t0003 a0004c0007t0012 a0004c0009t0002 a0004c0009t0010 a0004c0014t0001 a0004c0027t0001 a0004c0028t0002	a0001c0022t0002g0062 a0002c0023t0001g0058 a0002c0023t0003g0073 others(17): Show a0001c0022t0002g0062 a0002c0023t0001g0058 a0002c0023t0003g0073 a0003c0003t0001g0071 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0131 a0003c0003t0005g0072 a0003c0003t0012g0063 a0003c0020t0003g0068 a0003c0020t0003g0069 a0003c0020t0003g0070 a0004c0007t0012g0067 a0004c0009t0002g0054 a0004c0009t0002g0059 a0004c0009t0002g0075 a0004c0009t0010g0055 a0004c0014t0001g0074 a0004c0027t0001g0066 a0004c0028t0002g0065	20	158	0.1266	-17	c.-13 others(38): Show c.-138+14462_-138+14478delTTTTTTTTTTTTTTTTT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132168870	AGGCCATG others(10): Show AGGCCATGGACCCCGGCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(50): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00544.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01106.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01346.hp2 HG01884.hp2 HG01981.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02129.hp1 HG02165.hp1 HG02258.hp2 HG02523.hp2 HG02897.hp1 HG02922.hp1 HG03017.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18966.hp2 NA18983.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19081.hp1 NA19081.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0013 a0001c0015 others(22): Show a0001c0001 a0001c0013 a0001c0015 a0001c0017 a0001c0019 a0001c0034 a0002c0005 a0002c0008 a0002c0010 a0002c0023 a0002c0026 a0002c0037 a0002c0047 a0003c0002 a0003c0003 a0003c0021 a0003c0038 a0003c0051 a0004c0007 a0004c0009 a0004c0011 a0004c0014 a0004c0027 a0004c0036 a0004c0045	a0001c0001t0001 a0001c0013t0001 a0001c0013t0016 others(26): Show a0001c0001t0001 a0001c0013t0001 a0001c0013t0016 a0001c0015t0001 a0001c0017t0027 a0001c0019t0001 a0001c0034t0001 a0002c0005t0001 a0002c0005t0010 a0002c0008t0018 a0002c0010t0009 a0002c0023t0001 a0002c0026t0001 a0002c0026t0026 a0002c0037t0001 a0002c0047t0022 a0003c0002t0001 a0003c0002t0020 a0003c0003t0001 a0003c0021t0001 a0003c0038t0001 a0003c0051t0001 a0004c0007t0001 a0004c0009t0010 a0004c0011t0001 a0004c0014t0001 a0004c0027t0001 a0004c0036t0001 a0004c0045t0001	a0001c0001t0001g0116 a0001c0013t0001g0094 a0001c0013t0001g0129 others(50): Show a0001c0001t0001g0116 a0001c0013t0001g0094 a0001c0013t0001g0129 a0001c0013t0016g0155 a0001c0015t0001g0030 a0001c0017t0027g0012 a0001c0019t0001g0152 a0001c0034t0001g0021 a0002c0005t0001g0016 a0002c0005t0001g0049 a0002c0005t0010g0061 a0002c0005t0010g0095 a0002c0008t0018g0120 a0002c0010t0009g0086 a0002c0010t0009g0087 a0002c0010t0009g0089 a0002c0023t0001g0058 a0002c0026t0001g0106 a0002c0026t0026g0043 a0002c0037t0001g0139 a0002c0047t0022g0045 a0003c0002t0001g0001 a0003c0002t0001g0003 a0003c0002t0001g0013 a0003c0002t0001g0034 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0001g0123 a0003c0002t0020g0093 a0003c0003t0001g0064 a0003c0003t0001g0071 a0003c0003t0001g0076 a0003c0003t0001g0077 a0003c0003t0001g0131 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0021t0001g0032 a0003c0038t0001g0024 a0003c0051t0001g0004 a0004c0007t0001g0108 a0004c0007t0001g0122 a0004c0009t0010g0055 a0004c0011t0001g0118 a0004c0011t0001g0134 a0004c0011t0001g0135 a0004c0011t0001g0136 a0004c0014t0001g0041 a0004c0014t0001g0074 a0004c0027t0001g0066 a0004c0036t0001g0039 a0004c0045t0001g0090	53	158	0.3354	-17	c.94 others(26): Show c.944_*960delCATGGACCCCGGCGGGC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/24	1841	INFO_REALIGN_3_PRIME	chr10	TogoVar
JAM2_chr21_25634258_25722562	25721273	GAAAAGAA others(10): Show GAAAAGAAAAGAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0107 a0001c0001t0039g0107	1	328	0.0031	-17	c.66 others(28): Show c.6602_*6618delAAAAGAAAAGAAAAAAA	JAM2	ENSG00000154721.15	transcript	ENST00000480456.6	protein_coding		3712		chr21	TogoVar
JAZF1_chr7_27825577_28185795	27979366	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01167.hp2 HG00738.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0002g0043 a0001c0001t0001g0135 a0001c0001t0002g0043	2	206	0.0097	-17	c.188 others(36): Show c.188+12526_188+12542delAAAAAAAAAAAAAAAAA	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28092290	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	206	0.0049	-17	c.115 others(36): Show c.115+88156_115+88172delTTTTTTTTTTTTTTTTT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JAZF1_chr7_27825577_28185795	28115880	AGGGAGCA others(10): Show AGGGAGCATACTATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03195.hp1 HG02896.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0025 a0001c0001t0002g0030	2	206	0.0097	-17	c.115 others(36): Show c.115+64566_115+64582delATATATAGTATGCTCCC	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	1/4			chr7	TogoVar
JDP2_chr14_75423022_75479107	75433195	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp2 HG02965.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0051 a0001c0001t0012 a0001c0001t0051	a0001c0001t0012g0162 a0001c0001t0051g0161 a0001c0001t0012g0162 a0001c0001t0051g0161	2	358	0.0056	-17	c.-23 others(34): Show c.-23-4690_-23-4674delAAAAAAAAAAAAAAAAA	JDP2	ENSG00000140044.13	transcript	ENST00000651602.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
JDP2_chr14_75423022_75479107	75439256	TTGGCTGT others(10): Show TTGGCTGTGGTGGCAAAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02897.hp1 HG01074.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0046 a0001c0001t0025 a0001c0001t0046	a0001c0001t0025g0031 a0001c0001t0046g0031 a0001c0001t0025g0031 a0001c0001t0046g0031	2	358	0.0056	-17	c.201 others(34): Show c.201+1140_201+1156delTGTGGTGGCAAACTGGC	JDP2	ENSG00000140044.13	transcript	ENST00000651602.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
JDP2_chr14_75423022_75479107	75439261	TGTGGTGG others(10): Show TGTGGTGGCAAACTGGCC	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0231 a0002c0002t0004g0231	1	358	0.0028	-17	c.201 others(34): Show c.201+1158_201+1174delGTGGTGGCAAACTGGCC	JDP2	ENSG00000140044.13	transcript	ENST00000651602.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
JMJD1C_chr10_63162225_63470977	63246029	GAGAAGAA others(10): Show GAGAAGAAAAAAACAACA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	310	0.0032	-17	c.447 others(36): Show c.447+18605_447+18621delTGTTGTTTTTTTCTTCT	JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	3/25			chr10	TogoVar
JMJD8_chr16_676670_689334	678462	GGGCCGGG others(10): Show GGGCCGGGCGTGTGGTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03041.hp1 HG02970.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0015 a0001c0001t0011g0015	2	364	0.0055	-17	c.43 others(28): Show c.4315_*4331delTGACCACACGCCCGGCC	JMJD8	ENSG00000161999.13	transcript	ENST00000609261.6	protein_coding		3207		chr16	TogoVar
JMY_chr5_79231131_79332211	79247867	TTATTTTA others(10): Show TTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp1 HG02615.hp2 others(2): Show HG02258.hp1 HG02280.hp1 HG02615.hp2 HG03139.hp2 HG03195.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0015 a0005c0007t0030 a0005c0007t0031 others(1): Show a0005c0007t0015 a0005c0007t0030 a0005c0007t0031 a0005c0007t0038	a0005c0007t0015g0188 a0005c0007t0015g0189 a0005c0007t0030g0187 others(2): Show a0005c0007t0015g0188 a0005c0007t0015g0189 a0005c0007t0030g0187 a0005c0007t0031g0186 a0005c0007t0038g0190	5	342	0.0146	-17	c.103 others(38): Show c.1032+10204_1032+10220delATTTTATTTTATTTTAT	JMY	ENSG00000152409.9	transcript	ENST00000396137.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
JPH2_chr20_44101590_44192188	44132353	CAGACACA others(10): Show CAGACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0243 a0001c0001t0096g0243	1	338	0.0030	-17	c.117 others(38): Show c.1170-13747_1170-13731delTGTGTGTGTGTGTGTCT	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
JPH2_chr20_44101590_44192188	44134709	ATATTATA others(10): Show ATATTATAAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01361.hp1 HG04115.hp2 others(5): Show HG00609.hp2 HG01361.hp1 HG04115.hp2 NA18954.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0017 a0002c0002 a0002c0005 a0002c0017	a0002c0002t0006 a0002c0002t0015 a0002c0002t0066 others(3): Show a0002c0002t0006 a0002c0002t0015 a0002c0002t0066 a0002c0002t0104 a0002c0005t0031 a0002c0017t0010	a0002c0002t0006g0171 a0002c0002t0015g0121 a0002c0002t0015g0130 others(5): Show a0002c0002t0006g0171 a0002c0002t0015g0121 a0002c0002t0015g0130 a0002c0002t0015g0131 a0002c0002t0066g0101 a0002c0002t0104g0291 a0002c0005t0031g0204 a0002c0017t0010g0015	8	338	0.0237	-17	c.117 others(38): Show c.1170-16103_1170-16087delAATATATATTTATAATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KALRN_chr3_124028369_124731325	124227663	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01123.hp1 HG02257.hp1 others(4): Show HG01074.hp2 HG01123.hp1 HG02257.hp1 HG02615.hp2 HG03540.hp2 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0017 a0001c0019 others(3): Show a0001c0007 a0001c0017 a0001c0019 a0001c0025 a0001c0067 a0002c0064	a0001c0007t0002 a0001c0017t0005 a0001c0019t0004 others(3): Show a0001c0007t0002 a0001c0017t0005 a0001c0019t0004 a0001c0025t0002 a0001c0067t0016 a0002c0064t0034	a0001c0007t0002g0019 a0001c0007t0002g0051 a0001c0017t0005g0043 others(4): Show a0001c0007t0002g0019 a0001c0007t0002g0051 a0001c0017t0005g0043 a0001c0019t0004g0104 a0001c0025t0002g0027 a0001c0067t0016g0103 a0002c0064t0034g0085	7	116	0.0603	-17	c.74- others(30): Show c.74-301_74-285delTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	1/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124270529	TTTTTTAA others(10): Show TTTTTTAATGCATATCAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03453.hp2 NA19240.hp1 HG02109.hp2 HG03453.hp2 NA19240.hp1	a0001 a0001	a0001c0012 a0001c0042 a0001c0043 a0001c0012 a0001c0042 a0001c0043	a0001c0012t0004 a0001c0042t0003 a0001c0043t0006 a0001c0012t0004 a0001c0042t0003 a0001c0043t0006	a0001c0012t0004g0107 a0001c0042t0003g0108 a0001c0043t0006g0106 a0001c0012t0004g0107 a0001c0042t0003g0108 a0001c0043t0006g0106	3	116	0.0259	-17	c.969 others(34): Show c.969+1281_969+1297delATGCATATCACTTTTTA	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	5/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124618086	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02145.hp1 HG03209.hp1 others(2): Show HG00642.hp2 HG02145.hp1 HG03209.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0007 a0001c0030 a0001c0034 others(2): Show a0001c0007 a0001c0030 a0001c0034 a0001c0041 a0001c0073	a0001c0007t0002 a0001c0030t0002 a0001c0034t0001 others(2): Show a0001c0007t0002 a0001c0030t0002 a0001c0034t0001 a0001c0041t0012 a0001c0073t0006	a0001c0007t0002g0019 a0001c0030t0002g0109 a0001c0034t0001g0030 others(2): Show a0001c0007t0002g0019 a0001c0030t0002g0109 a0001c0034t0001g0030 a0001c0041t0012g0105 a0001c0073t0006g0096	5	116	0.0431	-17	c.518 others(38): Show c.5183-14310_5183-14294delTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124628742	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00438.hp2 others(16): Show HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00642.hp2 HG01175.hp2 HG01258.hp2 HG02055.hp2 HG02109.hp1 HG02165.hp1 HG02273.hp2 HG02615.hp2 NA18906.hp2 NA18947.hp2 NA18955.hp2 NA18983.hp1 NA19002.hp1 NA19004.hp2 NA19030.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0005 a0001c0010 a0001c0016 others(14): Show a0001c0005 a0001c0010 a0001c0016 a0001c0022 a0001c0030 a0001c0038 a0001c0039 a0001c0046 a0001c0047 a0001c0049 a0001c0058 a0001c0066 a0001c0069 a0001c0073 a0002c0064 a0003c0028 a0008c0048	a0001c0005t0001 a0001c0010t0002 a0001c0016t0011 others(15): Show a0001c0005t0001 a0001c0010t0002 a0001c0016t0011 a0001c0016t0025 a0001c0022t0001 a0001c0030t0002 a0001c0038t0002 a0001c0039t0001 a0001c0046t0002 a0001c0047t0009 a0001c0049t0001 a0001c0058t0001 a0001c0066t0001 a0001c0069t0022 a0001c0073t0006 a0002c0064t0034 a0003c0028t0001 a0008c0048t0003	a0001c0005t0001g0023 a0001c0005t0001g0035 a0001c0010t0002g0050 others(16): Show a0001c0005t0001g0023 a0001c0005t0001g0035 a0001c0010t0002g0050 a0001c0016t0011g0064 a0001c0016t0025g0004 a0001c0022t0001g0008 a0001c0030t0002g0109 a0001c0038t0002g0028 a0001c0039t0001g0091 a0001c0046t0002g0095 a0001c0047t0009g0092 a0001c0049t0001g0003 a0001c0058t0001g0016 a0001c0066t0001g0055 a0001c0069t0022g0102 a0001c0073t0006g0096 a0002c0064t0034g0085 a0003c0028t0001g0033 a0008c0048t0003g0007	19	116	0.1638	-17	c.518 others(36): Show c.5183-3666_5183-3650delTTTTTTTTTTTTTTTTT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124628754	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp2 HG01175.hp1 others(14): Show HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01515.hp1 HG01517.hp1 HG02071.hp2 HG02129.hp1 HG02165.hp2 HG02273.hp1 HG03139.hp1 HG03209.hp1 HG03688.hp2 NA18612.hp2 NA18906.hp1 NA18983.hp2 NA19010.hp2 NA19077.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0001c0005 others(10): Show a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0010 a0001c0018 a0001c0019 a0001c0025 a0001c0035 a0001c0041 a0001c0063 a0001c0072 a0004c0013	a0001c0002t0002 a0001c0002t0024 a0001c0004t0030 others(12): Show a0001c0002t0002 a0001c0002t0024 a0001c0004t0030 a0001c0005t0001 a0001c0008t0002 a0001c0010t0002 a0001c0018t0026 a0001c0019t0001 a0001c0025t0001 a0001c0025t0002 a0001c0035t0002 a0001c0041t0012 a0001c0063t0003 a0001c0072t0001 a0004c0013t0002	a0001c0002t0002g0011 a0001c0002t0024g0006 a0001c0004t0030g0052 others(14): Show a0001c0002t0002g0011 a0001c0002t0024g0006 a0001c0004t0030g0052 a0001c0005t0001g0034 a0001c0008t0002g0071 a0001c0010t0002g0012 a0001c0010t0002g0067 a0001c0018t0026g0073 a0001c0019t0001g0079 a0001c0025t0001g0044 a0001c0025t0002g0027 a0001c0035t0002g0066 a0001c0041t0012g0105 a0001c0063t0003g0088 a0001c0072t0001g0060 a0004c0013t0002g0001 a0004c0013t0002g0002	17	116	0.1466	-17	c.518 others(36): Show c.5183-3664_5183-3648delTTTTTTTTTTTTTTTGT	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	34/59		INFO_REALIGN_3_PRIME	chr3	TogoVar
KALRN_chr3_124028369_124731325	124668044	ACACACAC others(10): Show ACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0051 a0001c0051	a0001c0051t0003 a0001c0051t0003	a0001c0051t0003g0005 a0001c0051t0003g0005	1	116	0.0086	-17	c.670 others(34): Show c.6703+862_6703+878delCACACACACACACACAC	KALRN	ENSG00000160145.16	transcript	ENST00000682506.1	protein_coding	47/59			chr3	TogoVar
KANK1_chr9_499695_751103	663204	GAAAGCCT others(10): Show GAAAGCCTTTCAAATCGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01175.hp1 HG01261.hp2 others(23): Show HG00099.hp2 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02109.hp2 HG02165.hp2 HG02273.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG03041.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 NA19030.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0004 others(7): Show a0001 a0002 a0004 a0005 a0007 a0008 a0009 a0020 a0026 a0032	a0001c0054 a0002c0002 a0004c0011 others(7): Show a0001c0054 a0002c0002 a0004c0011 a0005c0004 a0007c0025 a0008c0006 a0009c0008 a0020c0026 a0026c0048 a0032c0062	a0001c0054t0008 a0002c0002t0002 a0002c0002t0003 others(9): Show a0001c0054t0008 a0002c0002t0002 a0002c0002t0003 a0004c0011t0006 a0005c0004t0002 a0005c0004t0005 a0007c0025t0002 a0008c0006t0002 a0009c0008t0005 a0020c0026t0002 a0026c0048t0003 a0032c0062t0005	a0001c0054t0008g0077 a0002c0002t0002g0124 a0002c0002t0002g0164 others(23): Show a0001c0054t0008g0077 a0002c0002t0002g0124 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0003g0001 a0002c0002t0003g0028 a0002c0002t0003g0246 a0002c0002t0003g0250 a0004c0011t0006g0002 a0005c0004t0002g0083 a0005c0004t0005g0109 a0005c0004t0005g0158 a0005c0004t0005g0237 a0005c0004t0005g0238 a0005c0004t0005g0247 a0007c0025t0002g0230 a0008c0006t0002g0060 a0008c0006t0002g0061 a0008c0006t0002g0067 a0008c0006t0002g0071 a0008c0006t0002g0097 a0008c0006t0002g0245 a0009c0008t0005g0003 a0020c0026t0002g0228 a0026c0048t0003g0252 a0032c0062t0005g0128	26	254	0.1024	-17	c.-83 others(36): Show c.-83-13684_-83-13668delAAGCCTTTCAAATCGTA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK1_chr9_499695_751103	710623	AAAAAAAC others(10): Show AAAAAAACAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0001	1	254	0.0039	-17	c.38- others(30): Show c.38-174_38-158delCAAAAAAAAACAAAAAA	KANK1	ENSG00000107104.21	transcript	ENST00000382297.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
KANK3_chr19_8317584_8348262	8318663	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02922.hp2 HG03130.hp2 others(1): Show HG02109.hp2 HG02922.hp2 HG03130.hp2 NA18522.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0004 a0009c0013t0004	a0009c0013t0004g0050 a0009c0013t0004g0051 a0009c0013t0004g0052 others(1): Show a0009c0013t0004g0050 a0009c0013t0004g0051 a0009c0013t0004g0052 a0009c0013t0004g0053	4	406	0.0099	-17	c.41 others(28): Show c.4159_*4175delTTTTTTTTTTTTTTTTT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding		3920		chr19	TogoVar
KANK3_chr19_8317584_8348262	8346361	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0312 a0006c0006t0002g0312	1	406	0.0025	-17	c.-31 others(28): Show c.-3182_-3166delATATATATATTTTTTTT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding		3100		chr19	TogoVar
KANK3_chr19_8317584_8348262	8346365	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 NA19083.hp1 HG01257.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0029 a0002c0002 a0001c0029 a0002c0002	a0001c0029t0003 a0002c0002t0001 a0001c0029t0003 a0002c0002t0001	a0001c0029t0003g0195 a0002c0002t0001g0013 a0001c0029t0003g0195 a0002c0002t0001g0013	2	406	0.0049	-17	c.-31 others(28): Show c.-3186_-3170delATATATATATATATTTT	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding		3104		chr19	TogoVar
KANK3_chr19_8317584_8348262	8346369	ATATATAT others(10): Show ATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00597.hp2 others(26): Show HG00280.hp1 HG00408.hp1 HG00597.hp2 HG00639.hp2 HG00741.hp2 HG01070.hp2 HG01515.hp2 HG01884.hp2 HG02071.hp1 HG02080.hp1 HG02145.hp2 HG02738.hp1 HG03130.hp1 HG03225.hp1 HG03688.hp2 HG03710.hp2 NA18612.hp1 NA18949.hp1 NA18970.hp2 NA18990.hp1 NA18995.hp2 NA19002.hp2 NA19004.hp2 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19074.hp2 NA20805.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0010 a0002c0002 others(3): Show a0001c0001 a0001c0010 a0002c0002 a0004c0004 a0007c0007 a0007c0024	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0010t0001 a0002c0002t0001 a0004c0004t0002 a0007c0007t0001 a0007c0024t0003	a0001c0001t0001g0006 a0001c0001t0001g0189 a0001c0001t0001g0190 others(25): Show a0001c0001t0001g0006 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0003g0179 a0001c0001t0005g0177 a0001c0001t0005g0180 a0001c0001t0005g0183 a0001c0010t0001g0207 a0001c0010t0001g0210 a0002c0002t0001g0257 a0002c0002t0001g0344 a0002c0002t0001g0350 a0002c0002t0001g0375 a0004c0004t0002g0276 a0007c0007t0001g0187 a0007c0007t0001g0198 a0007c0024t0003g0194	29	406	0.0714	-17	c.-31 others(28): Show c.-3190_-3174delATATATATATATATATA	KANK3	ENSG00000186994.12	transcript	ENST00000330915.7	protein_coding		3108		chr19	TogoVar
KANSL1_chr17_46024916_46198429	46052963	CCAAAAAA others(10): Show CCAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02738.hp2 HG04199.hp1 HG02109.hp2 HG02738.hp2 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0302 a0003c0004t0005g0304 a0003c0004t0005g0309 a0003c0004t0005g0302 a0003c0004t0005g0304 a0003c0004t0005g0309	3	321	0.0094	-17	c.184 others(36): Show c.1849-2276_1849-2260delTTTTTTTTTTTTTTTTG	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46052964	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00733.hp2 others(6): Show HG00099.hp2 HG00639.hp2 HG00733.hp2 HG01074.hp1 HG01099.hp1 HG01515.hp2 HG01517.hp1 HG03831.hp2 NA20752.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0077 a0004c0005t0001g0078 a0004c0005t0001g0079 others(6): Show a0004c0005t0001g0077 a0004c0005t0001g0078 a0004c0005t0001g0079 a0004c0005t0001g0080 a0004c0005t0001g0081 a0004c0005t0001g0082 a0004c0005t0001g0083 a0004c0005t0001g0084 a0004c0005t0001g0085	9	321	0.0280	-17	c.184 others(36): Show c.1849-2277_1849-2261delTTTTTTTTTTTTTTTTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	6/14			chr17	TogoVar
KANSL1_chr17_46024916_46198429	46189031	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA19063.hp1 NA18981.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0118 a0001c0001t0002g0119	2	321	0.0062	-17	c.-90 others(34): Show c.-90+3775_-90+3791delTTTTTTTTTTTTTTTTT	KANSL1	ENSG00000120071.15	transcript	ENST00000432791.7	protein_coding	1/14			chr17	TogoVar
KARS1_chr16_75622724_75652665	75642185	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01257.hp1 others(12): Show HG00099.hp1 HG00738.hp1 HG01257.hp1 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG03195.hp2 HG03225.hp2 HG03579.hp2 HG03654.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0042 a0001c0001t0001g0252 a0001c0001t0001g0253 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0004t0001g0097 a0001c0004t0001g0098 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0261 a0002c0002t0003g0265	15	380	0.0395	-17	c.63- others(30): Show c.63-479_63-463delAAAAAAAAAAAAAAAAA	KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding	1/13			chr16	TogoVar
KAT2B_chr3_20035446_20159404	20061719	GTATATAT others(10): Show GTATATATGAAAAAATAA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	374	0.0027	-17	c.304 others(36): Show c.304-10597_304-10581delATATATATGAAAAAATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KAT2B_chr3_20035446_20159404	20106994	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	374	0.0027	-17	c.852 others(34): Show c.852-4601_852-4585delATATATATATATATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	5/17			chr3	TogoVar
KAT5_chr11_65707252_65724604	65720998	CCCCCTCT others(10): Show CCCCCTCTCCTTCCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(129): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp2 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02683.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03942.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18982.hp2 NA18987.hp1 NA18990.hp1 NA18991.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19007.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19072.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0001t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0003t0001g0001 a0001c0004t0001g0029	132	442	0.2986	-17	c.18 others(28): Show c.1818_*1834delCCCCTCTCCTTCCCCCT	KAT5	ENSG00000172977.13	transcript	ENST00000341318.9	protein_coding		1395		chr11	TogoVar
KAT6A_chr8_41924479_42056987	42031617	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG04184.hp1 HG00099.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0111 a0001c0001t0009 a0001c0001t0111	a0001c0001t0009g0283 a0001c0001t0111g0278 a0001c0001t0009g0283 a0001c0001t0111g0278	2	374	0.0054	-17	c.600 others(36): Show c.600+16744_600+16760delAAAAAAAAAAAAAAAAA	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding	2/16			chr8	TogoVar
KAT6A_chr8_41924479_42056987	42054247	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0154 a0001c0001t0038g0154	1	374	0.0027	-17	c.-26 others(28): Show c.-2689_-2673delATTTTTTTTTTTTTTTT	KAT6A	ENSG00000083168.11	transcript	ENST00000265713.8	protein_coding		2261		chr8	TogoVar
KAT6B_chr10_74821600_75037624	74830752	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	236	0.0042	-17	c.-32 others(36): Show c.-329+3969_-329+3985delATATATATATATATATT	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
KAT6B_chr10_74821600_75037624	74830754	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	236	0.0042	-17	c.-32 others(36): Show c.-329+3971_-329+3987delATATATATATATATTTT	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
KAT6B_chr10_74821600_75037624	74830756	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02258.hp1 HG02572.hp1 others(4): Show HG01433.hp1 HG02258.hp1 HG02572.hp1 HG03130.hp2 HG03225.hp1 HG03486.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0015t0002	a0001c0001t0001g0084 a0001c0001t0002g0083 a0001c0001t0002g0085 others(4): Show a0001c0001t0001g0084 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0003g0096 a0001c0015t0002g0097	7	236	0.0297	-17	c.-32 others(36): Show c.-329+3973_-329+3989delATATATATATATTTTTT	KAT6B	ENSG00000156650.14	transcript	ENST00000287239.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 9132 hits)