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.

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
KLK12_chr19_51024094_51040002	51031595	C C	CATACATA others(29): Show CATACATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	448	0.0022	36	c.457 others(51): Show c.457+280_457+281insATATATATATATATATATATATATATATGT ATGTAT	KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5			chr19	TogoVar
KLK12_chr19_51024094_51040002	51031595	C C	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02523.hp1 HG02523.hp2 others(3): Show HG00609.hp2 HG02523.hp1 HG02523.hp2 NA18957.hp1 NA19012.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0118 a0001c0001t0002g0130 others(1): Show a0001c0001t0002g0031 a0001c0001t0002g0118 a0001c0001t0002g0130 a0001c0001t0002g0131	6	448	0.0134	36	c.457 others(51): Show c.457+280_457+281insATATATATATATATATATATATATATATAT ATATAT	KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5			chr19	TogoVar
KLK12_chr19_51024094_51040002	51031610	A A	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	448	0.0022	36	c.457 others(51): Show c.457+265_457+266insCATATATATATATATATATATATATATATA TATATA	KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5			chr19	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19070.hp1 NA18970.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0165 a0002c0002t0001g0100 a0002c0002t0001g0165	2	436	0.0046	36	c.85+ others(49): Show c.85+419_85+420insAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAG GAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02602.hp1 HG03831.hp1 others(4): Show HG01243.hp1 HG02602.hp1 HG03831.hp1 NA18973.hp1 NA18995.hp1 NA18999.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0149 a0002c0002t0001g0150 others(3): Show a0002c0002t0001g0022 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0181	7	436	0.0161	36	c.85+ others(49): Show c.85+419_85+420insAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAG GAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTCCTT others(29): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19007.hp1 NA19012.hp1 HG00280.hp1 NA19007.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144	3	436	0.0069	36	c.85+ others(49): Show c.85+419_85+420insAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAG GAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRB1_chr12_9589551_9612916	9607335	C C	CCTTTCTT others(29): Show CCTTTCTTTCTTTCTTTCTTTCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18988.hp1 NA18988.hp2 others(1): Show NA18952.hp2 NA18988.hp1 NA18988.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0027 a0001c0001t0002g0198 a0002c0002t0001g0199 a0001c0001t0002g0027 a0001c0001t0002g0198 a0002c0002t0001g0199	4	436	0.0092	36	c.85+ others(49): Show c.85+419_85+420insAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAG AAAG	KLRB1	ENSG00000111796.4	transcript	ENST00000229402.4	protein_coding	1/5			chr12	TogoVar
KLRF1_chr12_9822481_9850005	9833901	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	388	0.0026	36	c.334 others(51): Show c.334+474_334+475insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	KLRF1	ENSG00000150045.12	transcript	ENST00000617889.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
KMO_chr1_241527378_241600642	241549266	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGTCGGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA19085.hp2 HG04204.hp1 NA19085.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0003 a0002c0006	a0002c0003t0003 a0002c0006t0004 a0002c0003t0003 a0002c0006t0004	a0002c0003t0003g0157 a0002c0006t0004g0172 a0002c0003t0003g0157 a0002c0006t0004g0172	2	422	0.0047	36	c.124 others(51): Show c.124+371_124+372insAAAGAAAGAAAGAAAGTCGGAAAGAAAGAA AGGAAG	KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp2 NA18950.hp1 others(1): Show HG01884.hp1 HG02647.hp2 NA18950.hp1 NA18965.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0025 a0005c0037 a0002c0002 a0005c0025 a0005c0037	a0002c0002t0002 a0005c0025t0001 a0005c0037t0001 a0002c0002t0002 a0005c0025t0001 a0005c0037t0001	a0002c0002t0002g0069 a0002c0002t0002g0076 a0005c0025t0001g0016 others(1): Show a0002c0002t0002g0069 a0002c0002t0002g0076 a0005c0025t0001g0016 a0005c0037t0001g0015	4	172	0.0233	36	c.371 others(55): Show c.3712+4834_3712+4835insGTGTGTATATATATATATATATATAT ATATATATAT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152215688	T T	TATATATA others(29): Show TATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA18747.hp1 NA18970.hp1 HG01069.hp1 NA18747.hp1 NA18970.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0002 a0002c0002t0002 a0001c0006t0002 a0002c0002t0002	a0001c0006t0002g0096 a0001c0006t0002g0100 a0002c0002t0002g0071 a0001c0006t0002g0096 a0001c0006t0002g0100 a0002c0002t0002g0071	3	172	0.0174	36	c.371 others(55): Show c.3712+4834_3712+4835insGTGTATATATATATATATATATATAT ATATATATAT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	23/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297027	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0029 a0002c0004t0002g0029	1	172	0.0058	36	c.849 others(55): Show c.849+12938_849+12939insGTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297035	A A	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02109.hp2 HG01361.hp2 HG02109.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0017 a0002c0007t0002g0051 a0002c0007t0002g0017 a0002c0007t0002g0051	2	172	0.0116	36	c.849 others(55): Show c.849+12930_849+12931insGTCTGTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152307262	G G	GAAGGACG others(29): Show GAAGGACGGACGGTAGGAAGGAAGGAAGGAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0084 a0002c0002t0006g0084	1	172	0.0058	36	c.849 others(53): Show c.849+2703_849+2704insTCTTTCTTCCTTCCTTCCTTCCTACCGT CCGTCCTT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KNDC1_chr10_133155219_133231412	133159947	C C	CGCCCCGC others(29): Show CGCCCCGCCCCCTCCAGGGCCCCGCCCCCCGCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp2 others(92): Show HG00099.hp2 HG00140.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02148.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03688.hp2 HG03704.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18952.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18987.hp2 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19056.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0012 a0020 a0024 a0028 a0029	a0001c0001 a0001c0003 a0001c0004 others(16): Show a0001c0001 a0001c0003 a0001c0004 a0001c0027 a0001c0056 a0002c0002 a0002c0005 a0003c0011 a0003c0015 a0004c0028 a0005c0012 a0006c0010 a0007c0009 a0009c0013 a0012c0045 a0020c0055 a0024c0059 a0028c0044 a0029c0069	a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0019 a0001c0003t0001 a0001c0004t0001 a0001c0027t0001 a0001c0056t0001 a0002c0002t0001 a0002c0002t0002 a0002c0005t0002 a0003c0011t0001 a0003c0015t0001 a0003c0015t0002 a0004c0028t0002 a0005c0012t0002 a0006c0010t0001 a0007c0009t0001 a0007c0009t0002 a0009c0013t0002 a0012c0045t0006 a0020c0055t0002 a0024c0059t0002 a0028c0044t0001 a0029c0069t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(88): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0002g0193 a0001c0001t0002g0205 a0001c0001t0002g0247 a0001c0001t0019g0203 a0001c0003t0001g0223 a0001c0004t0001g0222 a0001c0027t0001g0221 a0001c0056t0001g0208 a0002c0002t0001g0239 a0002c0002t0002g0008 a0002c0002t0002g0106 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0250 a0002c0002t0002g0255 a0002c0005t0002g0103 a0002c0005t0002g0214 a0002c0005t0002g0226 a0003c0011t0001g0210 a0003c0011t0001g0248 a0003c0011t0001g0249 a0003c0015t0001g0236 a0003c0015t0002g0237 a0003c0015t0002g0238 a0004c0028t0002g0134 a0005c0012t0002g0254 a0006c0010t0001g0240 a0007c0009t0001g0130 a0007c0009t0001g0132 a0007c0009t0001g0133 a0007c0009t0002g0131 a0009c0013t0002g0229 a0009c0013t0002g0230 a0009c0013t0002g0231 a0009c0013t0002g0232 a0009c0013t0002g0233 a0009c0013t0002g0234 a0009c0013t0002g0235 a0012c0045t0006g0244 a0020c0055t0002g0241 a0024c0059t0002g0008 a0028c0044t0001g0318 a0029c0069t0002g0170	95	332	0.2861	36	c.-52 others(45): Show c.-521_-520insGCCCCGCCCCCTCCAGGGCCCCGCCCCCCGCCCCGG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		271		chr10	TogoVar
KNDC1_chr10_133155219_133231412	133159947	C C	CGCCCCGC others(29): Show CGCCCCGCCCCCTCCCGGGCCCCGCCCCCCGCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG03669.hp1 NA18961.hp1 HG02922.hp1 HG03669.hp1 NA18961.hp1	a0001 a0008 a0021 a0001 a0008 a0021	a0001c0008 a0008c0014 a0021c0031 a0001c0008 a0008c0014 a0021c0031	a0001c0008t0001 a0008c0014t0020 a0021c0031t0005 a0001c0008t0001 a0008c0014t0020 a0021c0031t0005	a0001c0008t0001g0272 a0008c0014t0020g0125 a0021c0031t0005g0264 a0001c0008t0001g0272 a0008c0014t0020g0125 a0021c0031t0005g0264	3	332	0.0090	36	c.-52 others(45): Show c.-521_-520insGCCCCGCCCCCTCCCGGGCCCCGCCCCCCGCCCCGG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		271		chr10	TogoVar
KNTC1_chr12_122522249_122631396	122541287	G G	GCCTGCCT others(29): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0126 a0008c0012t0001g0126	1	320	0.0031	36	c.446 others(51): Show c.446-760_446-759insGCCTGCCTGCCTGCCTGCCTGCCTTCCTTC CTTCCT	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KNTC1_chr12_122522249_122631396	122541287	G G	GCCTGCCT others(29): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp1 HG03041.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0272 a0002c0003t0001g0273 a0002c0003t0001g0272 a0002c0003t0001g0273	2	320	0.0063	36	c.446 others(51): Show c.446-760_446-759insGCCTGCCTGCCTTCCTTCCTTCCTTCCTTC CTTCCT	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	5/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KPNA1_chr3_122416902_122519939	122452564	G G	GGGAGGGA others(29): Show GGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	400	0.0025	36	c.565 others(51): Show c.565-501_565-500insTTCCTTCCTTCCTTCCCTCCTTCCCTCCTT CCCTCC	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	6/13			chr3	TogoVar
KPNA1_chr3_122416902_122519939	122452564	G G	GGGAGGGA others(29): Show GGGAGGGAGGGAGGGAAGGAGGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0017 a0001c0001t0028g0017	1	400	0.0025	36	c.565 others(51): Show c.565-501_565-500insTTCCTTCCTTCCTTCCCTCCTTCCCTCCCT CCCTCC	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	6/13			chr3	TogoVar
KRBA2_chr17_8353822_8381704	8374937	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18950.hp2 NA19002.hp1 HG03710.hp2 NA18950.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002	a0001c0001t0007g0211 a0001c0002t0001g0209 a0001c0002t0002g0210 a0001c0001t0007g0211 a0001c0002t0001g0209 a0001c0002t0002g0210	3	388	0.0077	36	c.-21 others(51): Show c.-21+962_-21+963insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	KRBA2	ENSG00000184619.8	transcript	ENST00000396267.3	protein_coding	1/1			chr17	TogoVar
KRT23_chr17_40917700_40942646	40942362	C C	CCCTCCTC others(29): Show CCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00558.hp2 HG00597.hp1 others(76): Show HG00140.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01255.hp2 HG01256.hp1 HG01358.hp1 HG01515.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02896.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03492.hp2 HG03688.hp1 HG03831.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18949.hp2 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA19005.hp2 NA19009.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19067.hp1 NA19076.hp2 NA19079.hp1 NA19082.hp1 NA19088.hp1 NA19088.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0012 a0001c0013 others(4): Show a0001c0001 a0001c0012 a0001c0013 a0002c0002 a0002c0005 a0003c0003 a0010c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0012t0004 a0001c0013t0004 a0002c0002t0001 a0002c0002t0004 a0002c0005t0004 a0003c0003t0002 a0010c0014t0002	a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 others(32): Show a0001c0001t0002g0002 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0034 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0003g0006 a0001c0001t0004g0036 a0001c0001t0004g0058 a0001c0001t0004g0064 a0001c0001t0014g0098 a0001c0012t0004g0063 a0001c0013t0004g0062 a0002c0002t0001g0005 a0002c0002t0001g0009 a0002c0002t0001g0142 a0002c0002t0004g0065 a0002c0005t0004g0010 a0002c0005t0004g0060 a0002c0005t0004g0061 a0003c0003t0002g0066 a0010c0014t0002g0073	79	437	0.1808	36	c.-53 others(47): Show c.-5368_-5367insAGGAGGGGGAGGAGGAGGAGGGGGAGGAGGAGGA GG	KRT23	ENSG00000108244.17	transcript	ENST00000209718.8	protein_coding		4717		chr17	TogoVar
KRTAP10-7_chr21_44595597_44607174	44599171	T T	TCTCTCTC others(29): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	446	0.0022	36	c.-14 others(47): Show c.-1451_-1450insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CC	KRTAP10-7	ENSG00000272804.3	transcript	ENST00000609664.2	protein_coding		1425		chr21	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310386	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00738.hp2 others(4): Show HG00423.hp1 HG00423.hp2 HG00738.hp2 HG01346.hp2 HG02027.hp2 NA18968.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	421	0.0166	36	c.-11 others(47): Show c.-1134_-1133insCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTC TT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1078		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAGGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01081.hp2 HG01255.hp1 others(4): Show HG00621.hp2 HG01081.hp2 HG01255.hp1 HG01358.hp1 HG02273.hp1 NA18987.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	421	0.0166	36	c.-11 others(47): Show c.-1137_-1136insTTTCCTTCTTTCTTTCTTTCTTTCCTTTCTTTCT TT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGAAA others(29): Show GAAAGAAAGGAAAGAAAGAAAGAAAGAAGGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	421	0.0024	36	c.-11 others(47): Show c.-1137_-1136insTTTCTTTCCTTCTTTCTTTCTTTCTTTCCTTTCT TT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310389	G G	GAAAGGAA others(29): Show GAAAGGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA20905.hp1 NA20905.hp2 NA18981.hp1 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	421	0.0071	36	c.-11 others(47): Show c.-1137_-1136insTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCCT TT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1081		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310386	A A	AAAGAAAG others(29): Show AAAGAAAGAAAGAAAGAAAGGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00738.hp2 others(4): Show HG00423.hp1 HG00423.hp2 HG00738.hp2 HG01346.hp2 HG02027.hp2 NA18968.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	413	0.0170	36	c.49 others(47): Show c.4946_*4947insCTTTCTTTCTTTCTTTCCTTTCTTTCTTTCTTTC TT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4525		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	413	0.0024	36	c.49 others(47): Show c.4943_*4944insTTTCTTTCTTTCTTTCTTTCTTTCCTTTCTTTCT TT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGAAA others(29): Show GAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01081.hp2 HG01255.hp2 others(7): Show HG00621.hp2 HG01081.hp2 HG01255.hp2 HG01358.hp2 HG02056.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 NA18949.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0001t0001g0000 a0001c0003t0001g0000	10	413	0.0242	36	c.49 others(47): Show c.4943_*4944insTTTCCTTCTTTCTTTCTTTCTTTCCTTTCTTTCT TT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310389	G G	GAAAGGAA others(29): Show GAAAGGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA20905.hp1 NA20905.hp2 NA18981.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	413	0.0073	36	c.49 others(47): Show c.4943_*4944insTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCCT TT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4522		chr17	TogoVar
KRTAP19-7_chr21_30555875_30566314	30562392	T T	TATATATA others(29): Show TATATATATATATACACACATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02622.hp1 others(8): Show HG01109.hp1 HG02486.hp1 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG03041.hp2 NA18522.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	11	422	0.0261	36	c.-11 others(47): Show c.-1104_-1103insGTGTATATATATATATATGTGTGTATATATATAT AT	KRTAP19-7	ENSG00000244362.3	transcript	ENST00000334849.2	protein_coding		1079		chr21	TogoVar
KRTAP21-2_chr21_30741794_30752259	30743505	A A	AATATATA others(29): Show AATATATATACGAATATATATACGAATATATATACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	380	0.0026	36	c.34 others(47): Show c.3445_*3446insACGTATATATATTCGTATATATATTCGTATATAT AT	KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding		3288		chr21	TogoVar
KRTAP3-1_chr17_41003521_41014128	41007665	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	439	0.0023	36	c.11 others(47): Show c.1112_*1113insTATATATATATATATATATATATATATATATATA TA	KRTAP3-1	ENSG00000212901.4	transcript	ENST00000391588.3	protein_coding		855		chr17	TogoVar
KRTAP3-2_chr17_40994193_41004906	41001915	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	473	0.0021	36	c.-20 others(47): Show c.-2063_-2062insTACACACACACACACACACATACACACACACACA CA	KRTAP3-2	ENSG00000212900.3	transcript	ENST00000391587.3	protein_coding		2010		chr17	TogoVar
KRTAP5-1_chr11_1579342_1590283	1583879	G G	GGTGTGTG others(29): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG02055.hp1 others(13): Show HG00609.hp2 HG00621.hp1 HG02055.hp1 HG02109.hp2 HG02155.hp1 HG02615.hp1 HG02698.hp2 HG02723.hp1 HG03654.hp1 HG04184.hp2 NA18940.hp2 NA18952.hp2 NA18966.hp2 NA18986.hp2 NA19067.hp1 NA19068.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0016 a0006c0009 a0002c0002 a0003c0016 a0006c0009	a0002c0002t0001 a0003c0016t0001 a0006c0009t0001 a0002c0002t0001 a0003c0016t0001 a0006c0009t0001	a0002c0002t0001g0000 a0003c0016t0001g0000 a0006c0009t0001g0000 a0002c0002t0001g0000 a0003c0016t0001g0000 a0006c0009t0001g0000	16	429	0.0373	36	c.53 others(45): Show c.533_*534insACACACACACACACACACACACACACACACACACAC	KRTAP5-1	ENSG00000205869.2	transcript	ENST00000382171.2	protein_coding		462		chr11	TogoVar
KRTAP9-6_chr17_41260378_41270860	41263222	T T	TGAAGGAA others(29): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02572.hp1 HG00642.hp1 HG02572.hp1	a0000 a0000	a0000c0001 a0000c0001	a0000c0001t0000 a0000c0001t0000	a0000c0001t0000g0000 a0000c0001t0000g0000	2	248	0.0081	36	c.-21 others(47): Show c.-2156_-2155insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AG	KRTAP9-6	ENSG00000212659.2	transcript	ENST00000391355.2	protein_coding		2155		chr17	TogoVar
KSR2_chr12_117448012_117973990	117656941	G G	GAGATATA others(29): Show GAGATATATATATATATATATATATAATAGGAGATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00544.hp2 others(16): Show HG00438.hp2 HG00544.hp1 HG00544.hp2 HG01168.hp2 HG01169.hp1 HG01884.hp1 HG02015.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG03225.hp1 NA18964.hp2 NA18968.hp2 NA19007.hp1 NA19011.hp1 NA19056.hp1 NA19060.hp1 NA19074.hp2 NA19081.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0005c0017	a0001c0001t0017 a0001c0001t0022 a0001c0001t0133 others(15): Show a0001c0001t0017 a0001c0001t0022 a0001c0001t0133 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0033 a0001c0002t0036 a0001c0002t0040 a0001c0002t0106 a0001c0002t0122 a0001c0003t0025 a0001c0008t0130 a0001c0009t0057 a0005c0017t0001	a0001c0001t0017g0155 a0001c0001t0022g0088 a0001c0001t0133g0154 others(16): Show a0001c0001t0017g0155 a0001c0001t0022g0088 a0001c0001t0133g0154 a0001c0002t0002g0093 a0001c0002t0004g0084 a0001c0002t0008g0165 a0001c0002t0010g0008 a0001c0002t0010g0009 a0001c0002t0011g0018 a0001c0002t0012g0032 a0001c0002t0033g0014 a0001c0002t0036g0013 a0001c0002t0040g0024 a0001c0002t0106g0168 a0001c0002t0122g0162 a0001c0003t0025g0187 a0001c0008t0130g0143 a0001c0009t0057g0042 a0005c0017t0001g0124	19	196	0.0969	36	c.117 others(57): Show c.1171+10532_1171+10533insATATCTCCTATTATATATATATAT ATATATATATCT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KTN1_chr14_55575207_55689579	55646460	T T	TTTTCCCT others(29): Show TTTTCCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	314	0.0032	36	c.217 others(53): Show c.2173-508_2173-507insCTTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCC	KTN1	ENSG00000126777.18	transcript	ENST00000395314.8	protein_coding	18/43		INFO_REALIGN_3_PRIME	chr14	TogoVar
L3MBTL4_chr18_5949717_6419911	6099585	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03017.hp2 HG03209.hp2 others(2): Show HG02257.hp2 HG03017.hp2 HG03209.hp2 HG03492.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0007 a0002c0002t0001 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001	a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0001t0007g0043 others(2): Show a0001c0001t0003g0041 a0001c0001t0003g0048 a0001c0001t0007g0043 a0002c0002t0001g0001 a0002c0002t0001g0018	5	94	0.0532	36	c.120 others(55): Show c.1200-6058_1200-6057insATATATATATATATATATATATATAT ATATATATAT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6118208	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG04115.hp1 HG02257.hp2 HG04115.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0025 a0002c0002t0001g0001 a0002c0002t0001g0025	2	94	0.0213	36	c.119 others(57): Show c.1199+19985_1199+19986insGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	14/18			chr18	TogoVar
LAMA1_chr18_6936742_7122797	7031680	C C	CAAATAAA others(29): Show CAAATAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18522.hp1 HG02630.hp1 NA18522.hp1	a0009 a0077 a0009 a0077	a0009c0150 a0077c0157 a0009c0150 a0077c0157	a0009c0150t0001 a0077c0157t0002 a0009c0150t0001 a0077c0157t0002	a0009c0150t0001g0266 a0077c0157t0002g0007 a0009c0150t0001g0266 a0077c0157t0002g0007	2	278	0.0072	36	c.227 others(53): Show c.2274+385_2274+386insATTTATTTATTTATTTATTTATTTATTT ATTTATTT	LAMA1	ENSG00000101680.16	transcript	ENST00000389658.4	protein_coding	16/62			chr18	TogoVar
LAMA2_chr6_128878138_129521566	128879459	A A	ATGCCATT others(29): Show ATGCCATTATATATATATATATATATATATATGCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0001 a0004c0018t0001	a0004c0018t0001g0032 a0004c0018t0001g0032	1	88	0.0114	36	c.-37 others(47): Show c.-3787_-3786insTGCCATTATATATATATATATATATATATATGCC AT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding		3678		chr6	TogoVar
LAMA2_chr6_128878138_129521566	129200274	G G	GTGTATAT others(29): Show GTGTATATATATACGTGTACACATATACATGTGTGTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02965.hp2 HG02451.hp1 HG02965.hp2	a0014 a0014	a0014c0008 a0014c0008	a0014c0008t0002 a0014c0008t0002	a0014c0008t0002g0084 a0014c0008t0002g0085 a0014c0008t0002g0084 a0014c0008t0002g0085	2	88	0.0227	36	c.178 others(55): Show c.1782+7422_1782+7423insGTATATATATACGTGTACACATATAC ATGTGTGTAT	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	129205478	G G	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	88	0.0114	36	c.178 others(57): Show c.1782+12641_1782+12642insTATATATATATATATATATATATA TATATATATATA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	12/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA3_chr18_23684453_23960066	23687746	T T	TTGTGTGT others(29): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG02109.hp2 HG02622.hp1 others(3): Show HG01358.hp2 HG02109.hp2 HG02622.hp1 HG03486.hp1 NA19012.hp2 NA19060.hp1	a0002 a0003 a0010 others(2): Show a0002 a0003 a0010 a0019 a0026	a0002c0003 a0003c0004 a0003c0031 others(3): Show a0002c0003 a0003c0004 a0003c0031 a0010c0024 a0019c0032 a0026c0052	a0002c0003t0001 a0003c0004t0001 a0003c0031t0001 others(3): Show a0002c0003t0001 a0003c0004t0001 a0003c0031t0001 a0010c0024t0001 a0019c0032t0001 a0026c0052t0001	a0002c0003t0001g0262 a0003c0004t0001g0255 a0003c0031t0001g0252 others(3): Show a0002c0003t0001g0262 a0003c0004t0001g0255 a0003c0031t0001g0252 a0010c0024t0001g0250 a0019c0032t0001g0263 a0026c0052t0001g0153	6	280	0.0214	36	c.-19 others(47): Show c.-1938_-1937insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding		1706		chr18	TogoVar
LAMA4_chr6_112102931_112259567	112207518	A A	AAACCAAC others(29): Show AAACCAACCAACGAACCAACCAACCAACCAACCAACC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0003 a0001c0023t0003	a0001c0023t0003g0306 a0001c0023t0003g0306	1	314	0.0032	36	c.298 others(51): Show c.298-374_298-373insGGTTGGTTGGTTGGTTGGTTGGTTCGTTGG TTGGTT	LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	3/38			chr6	TogoVar
LAMA5_chr20_62304065_62372312	62318318	G G	GGGGGGAG others(29): Show GGGGGGAGGAAGAGGAGGAGGGGGAGGAAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0047 a0047	a0047c0124 a0047c0124	a0047c0124t0001 a0047c0124t0001	a0047c0124t0001g0083 a0047c0124t0001g0083	1	186	0.0054	36	c.723 others(53): Show c.7239+135_7239+136insTCCTCCTCTTCCTCCCCCTCCTCCTCTT CCTCCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
LAMA5_chr20_62304065_62372312	62318319	G G	GGGGGAGG others(29): Show GGGGGAGGAAGAGGAGGAGGGGGGAGGAAGAGGAGGA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02258.hp2 NA19043.hp1 HG00741.hp1 HG02258.hp2 NA19043.hp1	a0014 a0019 a0014 a0019	a0014c0019 a0019c0022 a0014c0019 a0019c0022	a0014c0019t0001 a0019c0022t0001 a0014c0019t0001 a0019c0022t0001	a0014c0019t0001g0150 a0019c0022t0001g0155 a0019c0022t0001g0156 a0014c0019t0001g0150 a0019c0022t0001g0155 a0019c0022t0001g0156	3	186	0.0161	36	c.723 others(53): Show c.7239+134_7239+135insTCCTCCTCTTCCTCCCCCCTCCTCCTCT TCCTCCCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79			chr20	TogoVar
LAMB3_chr1_209609870_209657425	209628680	G G	GGGATGGG others(29): Show GGGATGGGAGATGGGAAACCATCTCCATTAAAGGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02257.hp1 HG02258.hp2 others(1): Show HG00741.hp2 HG02257.hp1 HG02258.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0007 a0001c0011 others(1): Show a0001c0003 a0001c0007 a0001c0011 a0004c0052	a0001c0003t0002 a0001c0007t0002 a0001c0011t0002 others(1): Show a0001c0003t0002 a0001c0007t0002 a0001c0011t0002 a0004c0052t0001	a0001c0003t0002g0340 a0001c0007t0002g0150 a0001c0011t0002g0114 others(1): Show a0001c0003t0002g0340 a0001c0007t0002g0150 a0001c0011t0002g0114 a0004c0052t0001g0126	4	444	0.0090	36	c.113 others(53): Show c.1133-491_1133-490insTCTCCTTTAATGGAGATGGTTTCCCATC TCCCATCC	LAMB3	ENSG00000196878.15	transcript	ENST00000356082.9	protein_coding	10/22			chr1	TogoVar

Search by Variant

Search

Search Results (Total: 8848 hits)