Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results 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
KMO_chr1_241527378_241600642	241549202	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	422	0.0024	-28	c.124 others(43): Show c.124+344_124+371delAAAGAAAGAAAGAAAGAAAGAAAGAAAG	KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KMO_chr1_241527378_241600642	241562890	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG04199.hp2 NA18940.hp2 others(4): Show HG02258.hp1 HG04199.hp2 NA18940.hp2 NA18945.hp1 NA18963.hp2 NA19002.hp1 NA19064.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0004 a0005c0018 a0001c0001 a0001c0004 a0005c0018	a0001c0001t0001 a0001c0001t0012 a0001c0004t0012 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0004t0012 a0001c0004t0026 a0005c0018t0012	a0001c0001t0001g0069 a0001c0001t0012g0178 a0001c0001t0012g0179 others(4): Show a0001c0001t0001g0069 a0001c0001t0012g0178 a0001c0001t0012g0179 a0001c0001t0012g0314 a0001c0004t0012g0363 a0001c0004t0026g0361 a0005c0018t0012g0183	7	422	0.0166	-28	c.615 others(43): Show c.615+581_615+608delAGGAAAGAAGGAAGGAAGGAAGGAAGGA	KMO	ENSG00000117009.12	transcript	ENST00000366559.9	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KMT2C_chr7_152129925_152441003	152290280	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02258.hp1 HG00735.hp2 HG02258.hp1	a0002 a0011 a0002 a0011	a0002c0004 a0011c0020 a0002c0004 a0011c0020	a0002c0004t0002 a0011c0020t0002 a0002c0004t0002 a0011c0020t0002	a0002c0004t0002g0058 a0011c0020t0002g0060 a0002c0004t0002g0058 a0011c0020t0002g0060	2	172	0.0116	-28	c.850 others(47): Show c.850-16441_850-16414delAAAAAAAAAAAAAATATATATATATA TA	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152290282	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0026 a0002c0004t0002g0026	1	172	0.0058	-28	c.850 others(47): Show c.850-16443_850-16416delAAAAAAAAAAAAAAAATATATATATA TA	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2C_chr7_152129925_152441003	152297051	AAGACAGA others(21): Show AAGACAGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp1 HG02717.hp1 HG03041.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0026 a0002c0004t0002g0027 a0002c0004t0002g0026 a0002c0004t0002g0027	2	172	0.0116	-28	c.849 others(47): Show c.849+12887_849+12914delCTCTCTCTCTCTCTCTCTCTCTCTGT CT	KMT2C	ENSG00000055609.21	transcript	ENST00000262189.11	protein_coding	6/58			chr7	TogoVar
KMT2E_chr7_105009205_105120019	105087065	TATATAAT others(21): Show TATATAATACATAATATATAGCGTATGTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0282 a0001c0002t0002g0282	1	304	0.0033	-28	c.135 others(47): Show c.1359-2938_1359-2911delATACATAATATATAGCGTATGTAATA TA	KMT2E	ENSG00000005483.23	transcript	ENST00000311117.8	protein_coding	13/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
KMT5C_chr19_55334876_55353121	55338494	GTCTCTGT others(21): Show GTCTCTGTCTCTCTCTCTCTCTCTCTCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01243.hp2 HG01978.hp1 others(8): Show HG00408.hp2 HG01243.hp2 HG01978.hp1 HG02129.hp1 HG02451.hp2 HG04199.hp1 NA18950.hp1 NA18977.hp1 NA18993.hp2 NA19012.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 a0001c0001t0001 a0001c0001t0003 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0003g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0003g0001 a0001c0008t0001g0025	11	406	0.0271	-28	c.-16 others(39): Show c.-1606_-1579delTCTCTGTCTCTCTCTCTCTCTCTCTCTC	KMT5C	ENSG00000133247.14	transcript	ENST00000255613.8	protein_coding		1381		chr19	TogoVar
KMT5C_chr19_55334876_55353121	55338529	TCTCTCTC others(21): Show TCTCTCTCTCTCTCTCTCTCTCTCACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0015 a0001c0009t0001g0015	1	406	0.0025	-28	c.-15 others(39): Show c.-1571_-1544delCTCTCTCTCTCTCTCTCTCTCTCACACA	KMT5C	ENSG00000133247.14	transcript	ENST00000255613.8	protein_coding		1346		chr19	TogoVar
KNDC1_chr10_133155219_133231412	133175395	GGATGAAT others(21): Show GGATGAATGGGTGAGTGGGTGGATGGGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(136): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18995.hp1 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(12): Show a0001 a0002 a0004 a0005 a0008 a0009 a0013 a0014 a0016 a0017 a0023 a0024 a0025 a0026 a0029	a0001c0004 a0001c0068 a0002c0002 others(26): Show a0001c0004 a0001c0068 a0002c0002 a0002c0005 a0002c0006 a0002c0022 a0002c0041 a0002c0043 a0002c0058 a0002c0061 a0004c0007 a0004c0024 a0004c0028 a0004c0063 a0005c0065 a0008c0014 a0008c0017 a0009c0013 a0013c0023 a0013c0060 a0014c0066 a0014c0067 a0016c0029 a0017c0057 a0023c0064 a0024c0059 a0025c0062 a0026c0042 a0029c0069	a0001c0004t0007 a0001c0068t0002 a0002c0002t0001 others(45): Show a0001c0004t0007 a0001c0068t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0025 a0002c0005t0001 a0002c0005t0002 a0002c0005t0024 a0002c0006t0004 a0002c0006t0010 a0002c0006t0011 a0002c0006t0029 a0002c0022t0002 a0002c0022t0003 a0002c0041t0004 a0002c0043t0002 a0002c0058t0002 a0002c0061t0002 a0004c0007t0001 a0004c0007t0002 a0004c0024t0004 a0004c0028t0002 a0004c0063t0002 a0005c0065t0002 a0008c0014t0001 a0008c0014t0005 a0008c0014t0020 a0008c0017t0001 a0008c0017t0013 a0008c0017t0016 a0009c0013t0002 a0013c0023t0004 a0013c0060t0002 a0014c0066t0002 a0014c0067t0002 a0016c0029t0002 a0016c0029t0021 a0017c0057t0002 a0023c0064t0001 a0024c0059t0002 a0025c0062t0002 a0026c0042t0004 a0029c0069t0002	a0001c0004t0007g0144 a0001c0068t0002g0114 a0002c0002t0001g0076 others(134): Show a0001c0004t0007g0144 a0001c0068t0002g0114 a0002c0002t0001g0076 a0002c0002t0001g0088 a0002c0002t0001g0239 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0016 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0049 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0106 a0002c0002t0002g0115 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0128 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0250 a0002c0002t0002g0255 a0002c0002t0009g0091 a0002c0002t0009g0112 a0002c0002t0014g0145 a0002c0002t0015g0148 a0002c0002t0017g0090 a0002c0002t0018g0037 a0002c0002t0025g0028 a0002c0005t0001g0032 a0002c0005t0001g0119 a0002c0005t0002g0025 a0002c0005t0002g0070 a0002c0005t0002g0084 a0002c0005t0002g0085 a0002c0005t0002g0103 a0002c0005t0002g0110 a0002c0005t0002g0116 a0002c0005t0002g0159 a0002c0005t0002g0160 a0002c0005t0002g0161 a0002c0005t0002g0214 a0002c0005t0002g0216 a0002c0005t0002g0226 a0002c0005t0024g0095 a0002c0006t0004g0280 a0002c0006t0004g0282 a0002c0006t0004g0287 a0002c0006t0004g0288 a0002c0006t0004g0292 a0002c0006t0004g0293 a0002c0006t0004g0294 a0002c0006t0004g0295 a0002c0006t0004g0298 a0002c0006t0004g0311 a0002c0006t0010g0315 a0002c0006t0011g0312 a0002c0006t0029g0279 a0002c0022t0002g0096 a0002c0022t0003g0291 a0002c0041t0004g0274 a0002c0043t0002g0062 a0002c0058t0002g0003 a0002c0061t0002g0061 a0004c0007t0001g0069 a0004c0007t0002g0053 a0004c0007t0002g0054 a0004c0007t0002g0063 a0004c0007t0002g0067 a0004c0007t0002g0068 a0004c0007t0002g0077 a0004c0007t0002g0078 a0004c0007t0002g0179 a0004c0024t0004g0010 a0004c0028t0002g0134 a0004c0028t0002g0137 a0004c0063t0002g0027 a0005c0065t0002g0040 a0008c0014t0001g0262 a0008c0014t0001g0273 a0008c0014t0005g0269 a0008c0014t0020g0125 a0008c0017t0001g0060 a0008c0017t0013g0149 a0008c0017t0016g0253 a0009c0013t0002g0229 a0009c0013t0002g0230 a0009c0013t0002g0231 a0009c0013t0002g0232 a0009c0013t0002g0233 a0009c0013t0002g0234 a0009c0013t0002g0235 a0013c0023t0004g0305 a0013c0023t0004g0306 a0013c0060t0002g0086 a0014c0066t0002g0111 a0014c0067t0002g0015 a0016c0029t0002g0150 a0016c0029t0021g0151 a0017c0057t0002g0074 a0023c0064t0001g0155 a0024c0059t0002g0008 a0025c0062t0002g0042 a0026c0042t0004g0281 a0029c0069t0002g0170	139	332	0.4187	-28	c.360 others(45): Show c.360+7093_360+7120delGTGAGTGGGTGGATGGGTAGATGAATGG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133190296	CCACCCTG others(21): Show CCACCCTGCATTAAACACCCTGCAGTAAG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02055.hp2 HG02257.hp1 others(6): Show HG00735.hp2 HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02615.hp1 HG02622.hp1 HG02922.hp1 HG03486.hp1 NA18522.hp1	a0003 a0009 a0011 others(1): Show a0003 a0009 a0011 a0021	a0003c0015 a0003c0033 a0003c0049 others(6): Show a0003c0015 a0003c0033 a0003c0049 a0009c0013 a0011c0037 a0011c0051 a0011c0052 a0011c0053 a0021c0031	a0003c0015t0028 a0003c0033t0005 a0003c0049t0002 others(6): Show a0003c0015t0028 a0003c0033t0005 a0003c0049t0002 a0009c0013t0002 a0011c0037t0027 a0011c0051t0002 a0011c0052t0001 a0011c0053t0001 a0021c0031t0005	a0003c0015t0028g0109 a0003c0033t0005g0265 a0003c0049t0002g0023 others(6): Show a0003c0015t0028g0109 a0003c0033t0005g0265 a0003c0049t0002g0023 a0009c0013t0002g0231 a0011c0037t0027g0310 a0011c0051t0002g0024 a0011c0052t0001g0135 a0011c0053t0001g0316 a0021c0031t0005g0264	9	332	0.0271	-28	c.157 others(45): Show c.1575+493_1575+520delTTAAACACCCTGCAGTAAGCACCCTGCA	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133190320	GTAAGCAC others(21): Show GTAAGCACCCTGCACTAAACACCCTGCAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(139): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18952.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18995.hp1 NA18999.hp2 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(11): Show a0002 a0003 a0004 a0005 a0008 a0009 a0013 a0014 a0017 a0023 a0024 a0025 a0026 a0029	a0002c0002 a0002c0005 a0002c0006 others(26): Show a0002c0002 a0002c0005 a0002c0006 a0002c0022 a0002c0041 a0002c0043 a0002c0058 a0002c0061 a0003c0016 a0004c0007 a0004c0024 a0004c0028 a0004c0063 a0005c0012 a0005c0021 a0005c0065 a0008c0014 a0008c0017 a0009c0013 a0013c0023 a0013c0060 a0014c0066 a0014c0067 a0017c0057 a0023c0064 a0024c0059 a0025c0062 a0026c0042 a0029c0069	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(44): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0014 a0002c0002t0015 a0002c0002t0017 a0002c0002t0018 a0002c0002t0025 a0002c0005t0001 a0002c0005t0002 a0002c0005t0024 a0002c0006t0004 a0002c0006t0010 a0002c0006t0011 a0002c0006t0029 a0002c0022t0002 a0002c0022t0003 a0002c0041t0004 a0002c0043t0002 a0002c0058t0002 a0002c0061t0002 a0003c0016t0006 a0004c0007t0001 a0004c0007t0002 a0004c0024t0004 a0004c0028t0002 a0004c0063t0002 a0005c0012t0002 a0005c0021t0004 a0005c0065t0002 a0008c0014t0001 a0008c0014t0005 a0008c0014t0020 a0008c0017t0001 a0008c0017t0013 a0008c0017t0016 a0009c0013t0002 a0013c0023t0004 a0013c0060t0002 a0014c0066t0002 a0014c0067t0002 a0017c0057t0002 a0023c0064t0001 a0024c0059t0002 a0025c0062t0002 a0026c0042t0004 a0029c0069t0002	a0002c0002t0001g0076 a0002c0002t0001g0088 a0002c0002t0001g0239 others(137): Show a0002c0002t0001g0076 a0002c0002t0001g0088 a0002c0002t0001g0239 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0008 a0002c0002t0002g0016 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0049 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0075 a0002c0002t0002g0087 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0106 a0002c0002t0002g0115 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0128 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0166 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0215 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0219 a0002c0002t0002g0220 a0002c0002t0002g0250 a0002c0002t0002g0255 a0002c0002t0009g0091 a0002c0002t0009g0112 a0002c0002t0014g0145 a0002c0002t0015g0148 a0002c0002t0017g0090 a0002c0002t0018g0037 a0002c0002t0025g0028 a0002c0005t0001g0032 a0002c0005t0001g0119 a0002c0005t0002g0025 a0002c0005t0002g0070 a0002c0005t0002g0084 a0002c0005t0002g0085 a0002c0005t0002g0103 a0002c0005t0002g0110 a0002c0005t0002g0116 a0002c0005t0002g0159 a0002c0005t0002g0160 a0002c0005t0002g0161 a0002c0005t0002g0214 a0002c0005t0002g0216 a0002c0005t0002g0226 a0002c0005t0024g0095 a0002c0006t0004g0280 a0002c0006t0004g0282 a0002c0006t0004g0287 a0002c0006t0004g0288 a0002c0006t0004g0292 a0002c0006t0004g0293 a0002c0006t0004g0294 a0002c0006t0004g0295 a0002c0006t0004g0298 a0002c0006t0004g0311 a0002c0006t0010g0315 a0002c0006t0011g0312 a0002c0006t0029g0279 a0002c0022t0002g0096 a0002c0022t0003g0291 a0002c0041t0004g0274 a0002c0043t0002g0062 a0002c0058t0002g0003 a0002c0061t0002g0061 a0003c0016t0006g0117 a0003c0016t0006g0118 a0003c0016t0006g0225 a0004c0007t0001g0069 a0004c0007t0002g0053 a0004c0007t0002g0054 a0004c0007t0002g0063 a0004c0007t0002g0067 a0004c0007t0002g0068 a0004c0007t0002g0077 a0004c0007t0002g0078 a0004c0007t0002g0179 a0004c0024t0004g0010 a0004c0028t0002g0134 a0004c0028t0002g0137 a0004c0063t0002g0027 a0005c0012t0002g0026 a0005c0012t0002g0251 a0005c0012t0002g0254 a0005c0021t0004g0286 a0005c0021t0004g0289 a0005c0065t0002g0040 a0008c0014t0001g0262 a0008c0014t0001g0273 a0008c0014t0005g0269 a0008c0014t0020g0125 a0008c0017t0001g0060 a0008c0017t0013g0149 a0008c0017t0016g0253 a0009c0013t0002g0229 a0009c0013t0002g0230 a0009c0013t0002g0232 a0009c0013t0002g0233 a0009c0013t0002g0234 a0009c0013t0002g0235 a0013c0023t0004g0305 a0013c0023t0004g0306 a0013c0060t0002g0086 a0014c0066t0002g0111 a0014c0067t0002g0015 a0017c0057t0002g0074 a0023c0064t0001g0155 a0024c0059t0002g0008 a0025c0062t0002g0042 a0026c0042t0004g0281 a0029c0069t0002g0170	142	332	0.4277	-28	c.157 others(45): Show c.1575+528_1575+555delCCCTGCACTAAGCACCCTGCACTAAACA	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNDC1_chr10_133155219_133231412	133220641	GCGGGCGC others(21): Show GCGGGCGCGCGCCCAGGAGAGGAGGGGCT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02976.hp1 others(1): Show HG02895.hp2 HG02896.hp2 HG02976.hp1 NA19030.hp1	a0010 a0010	a0010c0020 a0010c0025 a0010c0020 a0010c0025	a0010c0020t0002 a0010c0025t0002 a0010c0020t0002 a0010c0025t0002	a0010c0020t0002g0258 a0010c0020t0002g0259 a0010c0025t0002g0242 others(1): Show a0010c0020t0002g0258 a0010c0020t0002g0259 a0010c0025t0002g0242 a0010c0025t0002g0243	4	332	0.0121	-28	c.501 others(45): Show c.5018+531_5018+558delGGGCGCGCGCCCAGGAGAGGAGGGGCTC	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KNTC1_chr12_122522249_122631396	122579025	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02257.hp1 HG02572.hp1 others(5): Show HG01099.hp2 HG02257.hp1 HG02572.hp1 HG02717.hp2 HG03540.hp2 NA18906.hp1 NA18982.hp1 NA19084.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0002 a0002c0003 a0011c0015 a0001c0002 a0002c0003 a0011c0015	a0001c0002t0001 a0002c0003t0001 a0011c0015t0001 a0001c0002t0001 a0002c0003t0001 a0011c0015t0001	a0001c0002t0001g0033 a0001c0002t0001g0058 a0001c0002t0001g0059 others(5): Show a0001c0002t0001g0033 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0069 a0001c0002t0001g0077 a0001c0002t0001g0094 a0002c0003t0001g0290 a0011c0015t0001g0276	8	320	0.0250	-28	c.284 others(45): Show c.2842-850_2842-823delTTTTTTTTTTTTTTTTTTTTTTTTTTTT	KNTC1	ENSG00000184445.12	transcript	ENST00000333479.12	protein_coding	31/63		INFO_REALIGN_3_PRIME	chr12	TogoVar
KPNA1_chr3_122416902_122519939	122452528	AGGAGGGA others(21): Show AGGAGGGAAGGAGGGAAGGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp1 others(90): Show HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG02027.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp2 HG02698.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03490.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG04184.hp1 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18970.hp2 NA18974.hp2 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19077.hp2 NA19079.hp1 NA19085.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0019 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0036	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0158 others(87): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0006g0161 a0001c0001t0006g0163 a0001c0001t0006g0165 a0001c0001t0006g0168 a0001c0001t0006g0170 a0001c0001t0006g0181 a0001c0001t0006g0209 a0001c0001t0006g0215 a0001c0001t0006g0223 a0001c0001t0006g0235 a0001c0001t0006g0238 a0001c0001t0006g0239 a0001c0001t0006g0242 a0001c0001t0006g0249 a0001c0001t0019g0210 a0001c0001t0019g0211 a0001c0001t0019g0227 a0001c0001t0021g0172 a0001c0001t0021g0201 a0001c0001t0021g0217 a0001c0001t0023g0189 a0001c0001t0023g0193 a0001c0001t0024g0010 a0001c0001t0036g0180	93	400	0.2325	-28	c.565 others(43): Show c.565-492_565-465delCTCCCTCCCTCCTTCCCTCCTTCCCTCC	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	6/13			chr3	TogoVar
KPNA3_chr13_49694320_49797682	49704434	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0374 a0001c0001t0030g0374	1	376	0.0027	-28	c.137 others(47): Show c.1372+1159_1372+1186delATTTATTTATTTATTTATTTATTTAT TT	KPNA3	ENSG00000102753.10	transcript	ENST00000261667.8	protein_coding	15/16			chr13	TogoVar
KPNA5_chr6_116676211_116746867	116732074	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0183 a0001c0001t0040g0183	1	344	0.0029	-28	c.143 others(43): Show c.1433-41_1433-14delTATATATATATATATATATATATATATA	KPNA5	ENSG00000196911.12	transcript	ENST00000368564.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
KPNA6_chr1_32103056_32181563	32128387	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	244	0.0041	-28	c.4+2 others(43): Show c.4+20266_4+20293delTATATATATATATATATATATATATATA	KPNA6	ENSG00000025800.14	transcript	ENST00000373625.8	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
KPNA7_chr7_99168572_99213115	99181026	TCTCTGTG others(21): Show TCTCTGTGTGTGTCTCTCTCTCTCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0076 a0001c0004t0001g0076	1	334	0.0030	-28	c.131 others(45): Show c.1317+829_1317+856delGGAGAGAGAGAGAGAGACACACACAGAG	KPNA7	ENSG00000185467.8	transcript	ENST00000327442.7	protein_coding	9/10			chr7	TogoVar
KRT10_chr17_40813117_40827614	40824390	CAAAACAA others(21): Show CAAAACAAAAAGAACTTAGAATCATGAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01943.hp1 HG01517.hp2 HG01943.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0005 a0004c0004t0001g0005	2	426	0.0047	-28	c.-18 others(39): Show c.-1833_-1806delTTTCATGATTCTAAGTTCTTTTTGTTTT	KRT10	ENSG00000186395.9	transcript	ENST00000269576.6	protein_coding		1777		chr17	TogoVar
KRT24_chr17_40692991_40708752	40701723	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02083.hp1 HG04204.hp2 others(1): Show HG02055.hp1 HG02083.hp1 HG04204.hp2 NA18943.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0010c0012t0001 a0001c0001t0001 a0001c0001t0002 a0010c0012t0001	a0001c0001t0001g0088 a0001c0001t0002g0072 a0001c0001t0002g0089 others(1): Show a0001c0001t0001g0088 a0001c0001t0002g0072 a0001c0001t0002g0089 a0010c0012t0001g0156	4	424	0.0094	-28	c.698 others(43): Show c.698+100_698+127delTATATATATATATATATATATATATATA	KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/7			chr17	TogoVar
KRT24_chr17_40692991_40708752	40701753	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0138 a0002c0002t0001g0138	1	424	0.0024	-28	c.698 others(41): Show c.698+70_698+97delAATATATATATATATATATATATATATA	KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/7			chr17	TogoVar
KRT2_chr12_52639558_52657211	52640889	AATATATA others(21): Show AATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	466	0.0022	-28	c.41 others(39): Show c.4102_*4129delATATATATATATATATATATATATATAT	KRT2	ENSG00000172867.4	transcript	ENST00000309680.4	protein_coding		3668		chr12	TogoVar
KRT78_chr12_52832807_52853994	52842950	AGAGAGAG others(21): Show AGAGAGAGAGAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02451.hp1 others(8): Show HG01891.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03486.hp1	a0005 a0005	a0005c0008 a0005c0010 a0005c0008 a0005c0010	a0005c0008t0003 a0005c0010t0003 a0005c0008t0003 a0005c0010t0003	a0005c0008t0003g0051 a0005c0008t0003g0170 a0005c0008t0003g0173 others(1): Show a0005c0008t0003g0051 a0005c0008t0003g0170 a0005c0008t0003g0173 a0005c0010t0003g0010	11	410	0.0268	-28	c.104 others(47): Show c.1047+1115_1047+1142delCCTTCCTTCCTTCCTTCCTCTCTCTC TC	KRT78	ENSG00000170423.13	transcript	ENST00000304620.5	protein_coding	6/8			chr12	TogoVar
KRTAP1-1_chr17_41035541_41046450	41035692	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA18612.hp2 NA19058.hp1 others(1): Show HG00597.hp2 NA18612.hp2 NA19058.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0000 a0002c0002t0001g0000	4	403	0.0099	-28	c.51 others(39): Show c.5144_*5171delGGAAAGAAAGAAAGAAAGAAAGAAAGAA	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding		4848		chr17	TogoVar
KRTAP1-1_chr17_41035541_41046450	41035786	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00597.hp1 others(27): Show HG00323.hp2 HG00423.hp1 HG00597.hp1 HG01346.hp1 HG01496.hp1 HG01975.hp1 HG02074.hp1 HG02132.hp1 HG02135.hp1 HG02523.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18986.hp2 NA18998.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp1 NA19070.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19089.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0000 a0004c0004t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000	30	403	0.0744	-28	c.50 others(39): Show c.5050_*5077delAAAGAAAGAAAGAAAGGAAGGAAGGAAG	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding		4754		chr17	TogoVar
KRTAP1-1_chr17_41035541_41046450	41035790	CCTTCCTT others(21): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	403	0.0025	-28	c.50 others(39): Show c.5046_*5073delAAAGAAAGAAAGAAAGAAAGGAAGGAAG	KRTAP1-1	ENSG00000188581.9	transcript	ENST00000306271.5	protein_coding		4750		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41035692	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 NA18612.hp1 NA19058.hp2 others(1): Show HG00597.hp2 NA18612.hp1 NA19058.hp2 NA19089.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	4	435	0.0092	-28	c.-89 others(37): Show c.-899_-872delGGAAAGAAAGAAAGAAAGAAAGAAAGAA	KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding		819		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41035703	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCCTTCTTTCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	435	0.0023	-28	c.-91 others(37): Show c.-910_-883delAAGAGAAAGAAGGAAAGAAAGAAAGAAA	KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding		830		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41035786	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp2 HG00597.hp1 others(27): Show HG00323.hp2 HG00423.hp2 HG00597.hp1 HG00621.hp2 HG01346.hp1 HG01496.hp1 HG01975.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02523.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18959.hp2 NA18960.hp2 NA18966.hp1 NA18998.hp2 NA19056.hp1 NA19062.hp1 NA19064.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19089.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0000 a0004c0004t0002g0000	30	435	0.0690	-28	c.-99 others(37): Show c.-993_-966delAAAGAAAGAAAGAAAGGAAGGAAGGAAG	KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding		913		chr17	TogoVar
KRTAP1-3_chr17_41028884_41039874	41035790	CCTTCCTT others(21): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0000 a0004c0004t0002g0000	1	435	0.0023	-28	c.-99 others(37): Show c.-997_-970delAAAGAAAGAAAGAAAGAAAGGAAGGAAG	KRTAP1-3	ENSG00000221880.4	transcript	ENST00000344363.7	protein_coding		917		chr17	TogoVar
KRTAP10-12_chr21_44692172_44703044	44702654	CATGCCCG others(21): Show CATGCCCGTCCCCTCCTGTTGTGCACCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0000 a0002c0003t0001g0000	1	446	0.0022	-28	c.47 others(39): Show c.4716_*4743delATGCCCGTCCCCTCCTGTTGTGCACCCG	KRTAP10-12	ENSG00000189169.8	transcript	ENST00000400365.3	protein_coding		4611		chr21	TogoVar
KRTAP16-1_chr17_41302700_41314309	41310330	GAAGAAAG others(21): Show GAAGAAAGAAAAGAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02970.hp1 HG03516.hp1 others(1): Show HG02895.hp1 HG02970.hp1 HG03516.hp1 NA19067.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0005 a0006c0007 a0002c0002 a0002c0005 a0006c0007	a0002c0002t0001 a0002c0005t0001 a0006c0007t0001 a0002c0002t0001 a0002c0005t0001 a0006c0007t0001	a0002c0002t0001g0000 a0002c0005t0001g0000 a0006c0007t0001g0000 a0002c0002t0001g0000 a0002c0005t0001g0000 a0006c0007t0001g0000	4	421	0.0095	-28	c.-11 others(39): Show c.-1105_-1078delTCTTTCTTTCTTTCTTCTTTTCTTTCTT	KRTAP16-1	ENSG00000212657.2	transcript	ENST00000391352.2	protein_coding		1022		chr17	TogoVar
KRTAP17-1_chr17_41309912_41320710	41310330	GAAGAAAG others(21): Show GAAGAAAGAAAAGAAGAAAGAAAGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02970.hp2 HG03516.hp1 others(1): Show HG02895.hp1 HG02970.hp2 HG03516.hp1 NA19067.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0002 a0003c0004t0001 a0001c0001t0001 a0002c0002t0002 a0003c0004t0001	a0001c0001t0001g0000 a0002c0002t0002g0000 a0003c0004t0001g0000 a0001c0001t0001g0000 a0002c0002t0002g0000 a0003c0004t0001g0000	4	413	0.0097	-28	c.49 others(39): Show c.4975_*5002delTCTTTCTTTCTTTCTTCTTTTCTTTCTT	KRTAP17-1	ENSG00000186860.5	transcript	ENST00000334202.5	protein_coding		4581		chr17	TogoVar
KRTAP2-1_chr17_41041541_41052316	41050861	TATATATA others(21): Show TATATATATAGTAAAATATATATAATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	407	0.0025	-28	c.-36 others(39): Show c.-3622_-3595delTATATTATATATATTTTACTATATATAT	KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding		3546		chr17	TogoVar
KRTAP2-1_chr17_41041541_41052316	41050890	ATATATAT others(21): Show ATATATATAGTAAAATATATATAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	407	0.0025	-28	c.-36 others(39): Show c.-3651_-3624delATATATTATATATATTTTACTATATATA	KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding		3575		chr17	TogoVar
KRTAP2-1_chr17_41041541_41052316	41051006	ATATATAT others(21): Show ATATATATAGTAAAATATATATAATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03491.hp2 HG03654.hp2 others(2): Show HG03486.hp2 HG03491.hp2 HG03654.hp2 HG03942.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	407	0.0123	-28	c.-37 others(39): Show c.-3767_-3740delATATATTATATATATTTTACTATATATA	KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding		3691		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41050861	TATATATA others(21): Show TATATATATAGTAAAATATATATAATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	411	0.0024	-28	c.39 others(39): Show c.3951_*3978delTATATTATATATATTTTACTATATATAT	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding		3636		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41051006	ATATATAT others(21): Show ATATATATAGTAAAATATATATAATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03491.hp1 HG03654.hp2 others(1): Show HG03486.hp1 HG03491.hp1 HG03654.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	4	411	0.0097	-28	c.38 others(39): Show c.3806_*3833delATATATTATATATATTTTACTATATATA	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding		3491		chr17	TogoVar
KRTAP29-1_chr17_41296826_41307851	41297836	GTAATCTA others(21): Show GTAATCTATTGTTATTAATTCCTGCATGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	399	0.0025	-28	c.39 others(39): Show c.3962_*3989delTCATGCAGGAATTAATAACAATAGATTA	KRTAP29-1	ENSG00000212658.1	transcript	ENST00000391353.1	protein_coding		3989		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41158299	TGAGGGGC others(21): Show TGAGGGGCTGAGGTGGGAAAATCACTTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	420	0.0024	-28	c.18 others(39): Show c.1864_*1891delTCAAGTGATTTTCCCACCTCAGCCCCTC	KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding		1349		chr17	TogoVar
KRTAP4-5_chr17_41143924_41154825	41145114	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	402	0.0025	-28	c.40 others(39): Show c.4080_*4107delAAGGAAGGAAGGAAGGAAGGAAGGAAGG	KRTAP4-5	ENSG00000198271.5	transcript	ENST00000343246.6	protein_coding		3809		chr17	TogoVar
KRTAP4-6_chr17_41134433_41145544	41145114	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0000 a0001c0002t0009g0000	1	438	0.0023	-28	c.-46 others(39): Show c.-4655_-4628delAAGGAAGGAAGGAAGGAAGGAAGGAAGG	KRTAP4-6	ENSG00000198090.4	transcript	ENST00000345847.5	protein_coding		4571		chr17	TogoVar
KRTAP4-7_chr17_41079150_41090144	41090041	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGCAAGCAAGCAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03225.hp2 HG01891.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	442	0.0045	-28	c.53 others(39): Show c.5368_*5395delAGAAAGAAAGAAAGCAAGCAAGCAAGAA	KRTAP4-7	ENSG00000240871.7	transcript	ENST00000391417.6	protein_coding		4898		chr17	TogoVar
KSR2_chr12_117448012_117973990	117583405	GTGGATGG others(21): Show GTGGATGGATGGATGGATGGATGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0091	1	196	0.0051	-28	c.117 others(47): Show c.1172-1074_1172-1047delTCCATCCATCCATCCATCCATCCATC CA	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19			chr12	TogoVar
KSR2_chr12_117448012_117973990	117692449	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp2 HG02004.hp2 others(7): Show HG00280.hp1 HG01106.hp2 HG02004.hp2 HG02257.hp2 HG02559.hp2 HG03209.hp2 HG03669.hp2 NA19007.hp1 NA19060.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0009 a0001c0001t0014 a0001c0001t0069 others(7): Show a0001c0001t0009 a0001c0001t0014 a0001c0001t0069 a0001c0001t0093 a0001c0002t0004 a0001c0002t0106 a0001c0003t0024 a0001c0004t0003 a0001c0004t0056 a0001c0004t0096	a0001c0001t0009g0184 a0001c0001t0014g0066 a0001c0001t0069g0052 others(7): Show a0001c0001t0009g0184 a0001c0001t0014g0066 a0001c0001t0069g0052 a0001c0001t0093g0170 a0001c0002t0004g0084 a0001c0002t0106g0168 a0001c0003t0024g0080 a0001c0004t0003g0029 a0001c0004t0056g0033 a0001c0004t0096g0105	10	196	0.0510	-28	c.987 others(47): Show c.987-24819_987-24792delATATATATATATATATATATATATAT AT	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	4/19			chr12	TogoVar
KYAT1_chr9_128827942_128886950	128865308	CATATATA others(21): Show CATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	326	0.0031	-28	c.-7+ others(45): Show c.-7+16561_-7+16588delATATATATATATATATATATATATATAT	KYAT1	ENSG00000171097.14	transcript	ENST00000302586.8	protein_coding	1/12			chr9	TogoVar
L3MBTL2_chr22_41200312_41236271	41215630	AAACATTC others(21): Show AAACATTCGCCTATGTGGACCCTCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0060	1	370	0.0027	-28	c.397 others(43): Show c.397-425_397-398delGAACATTCGCCTATGTGGACCCTCTCCC	L3MBTL2	ENSG00000100395.15	transcript	ENST00000216237.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
L3MBTL4_chr18_5949717_6419911	6071733	GAAAGAAG others(21): Show GAAAGAAGGAAGGAAAGAAAGAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0042 a0002c0002t0001g0042	1	94	0.0106	-28	c.144 others(47): Show c.1444+9120_1444+9147delTTTTCTTTCTTTCTTTCCTTCCTTCT TT	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18			chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6322477	GGAAGGAA others(21): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02818.hp1 HG02622.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0001 a0001c0001t0005 a0002c0002t0001	a0001c0001t0005g0088 a0002c0002t0001g0090 a0001c0001t0005g0088 a0002c0002t0001g0090	2	94	0.0213	-28	c.-90 others(47): Show c.-90-10449_-90-10422delTTTCCTTCCTTCCTTCCTTCCTTCCT TC	L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	1/18			chr18	TogoVar
LACC1_chr13_43874904_43898932	43879799	GAGGCGAG others(21): Show GAGGCGAGGCGGGGCGAGGTGGGCGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	456	0.0022	-28	c.-35 others(37): Show c.-354_-327delAGGCGAGGCGGGGCGAGGTGGGCGAGGT	LACC1	ENSG00000179630.11	transcript	ENST00000325686.7	protein_coding		104		chr13	TogoVar

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Search Results (Total: 7045 hits)