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.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CYP1B1_chr2_38062509_38081151	38078098	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01517.hp2 others(2): Show HG01516.hp2 HG01517.hp1 HG01517.hp2 HG02809.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0012 a0002c0002t0003 a0002c0002t0012	a0002c0002t0003g0002 a0002c0002t0012g0017 a0002c0002t0003g0002 a0002c0002t0012g0017	5	368	0.0136	21	c.-23 others(32): Show c.-2341_-2321dupTTTTTTTTTTTTTTTTTTTTT	CYP1B1	ENSG00000138061.12	transcript	ENST00000610745.5	protein_coding		1948		chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203286430	G G	GCAGTATT others(14): Show GCAGTATTATTCAAAATAGCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(293): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19084.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(4): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0007 a0006c0006 a0007c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(150): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0048 a0001c0001t0049 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0110 a0001c0001t0111 a0001c0001t0134 a0001c0001t0138 a0001c0001t0139 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0013 a0002c0002t0018 a0002c0002t0019 a0002c0002t0039 a0002c0002t0040 a0002c0002t0041 a0002c0002t0042 a0002c0002t0043 a0002c0002t0047 a0002c0002t0050 a0002c0002t0051 a0002c0002t0053 a0002c0002t0055 a0002c0002t0098 a0002c0002t0099 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0103 a0002c0002t0104 a0002c0002t0105 a0002c0002t0106 a0002c0002t0107 a0002c0002t0108 a0002c0002t0109 a0002c0002t0112 a0002c0002t0113 a0002c0002t0114 a0002c0002t0115 a0002c0002t0116 a0002c0002t0117 a0002c0002t0118 a0002c0002t0119 a0002c0002t0120 a0002c0002t0121 a0002c0002t0122 a0002c0002t0123 a0002c0002t0124 a0002c0002t0125 a0002c0002t0126 a0002c0002t0127 a0002c0002t0128 a0002c0002t0129 a0002c0002t0130 a0002c0002t0131 a0002c0002t0132 a0002c0002t0142 a0002c0002t0143 a0002c0002t0147 a0002c0002t0149 a0002c0002t0158 a0002c0002t0162 a0002c0002t0163 a0002c0002t0164 a0002c0002t0165 a0003c0003t0097 a0004c0004t0005 a0004c0004t0133 a0005c0007t0018 a0006c0006t0006 a0007c0005t0034	a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0046 others(291): Show a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0176 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0055 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0180 a0001c0001t0006g0128 a0001c0001t0006g0131 a0001c0001t0006g0136 a0001c0001t0006g0146 a0001c0001t0006g0148 a0001c0001t0006g0163 a0001c0001t0007g0068 a0001c0001t0007g0070 a0001c0001t0007g0080 a0001c0001t0007g0082 a0001c0001t0007g0086 a0001c0001t0007g0161 a0001c0001t0007g0168 a0001c0001t0010g0040 a0001c0001t0010g0071 a0001c0001t0010g0074 a0001c0001t0010g0075 a0001c0001t0010g0154 a0001c0001t0010g0159 a0001c0001t0011g0054 a0001c0001t0011g0056 a0001c0001t0011g0057 a0001c0001t0011g0095 a0001c0001t0011g0156 a0001c0001t0011g0179 a0001c0001t0012g0125 a0001c0001t0012g0130 a0001c0001t0012g0132 a0001c0001t0012g0135 a0001c0001t0012g0164 a0001c0001t0014g0294 a0001c0001t0014g0301 a0001c0001t0014g0303 a0001c0001t0014g0307 a0001c0001t0014g0309 a0001c0001t0015g0314 a0001c0001t0015g0315 a0001c0001t0015g0316 a0001c0001t0015g0317 a0001c0001t0016g0038 a0001c0001t0016g0140 a0001c0001t0016g0141 a0001c0001t0016g0142 a0001c0001t0017g0112 a0001c0001t0017g0117 a0001c0001t0017g0166 a0001c0001t0017g0319 a0001c0001t0021g0078 a0001c0001t0021g0096 a0001c0001t0021g0177 a0001c0001t0023g0299 a0001c0001t0023g0302 a0001c0001t0023g0311 a0001c0001t0024g0296 a0001c0001t0024g0297 a0001c0001t0024g0298 a0001c0001t0025g0066 a0001c0001t0025g0093 a0001c0001t0026g0004 a0001c0001t0027g0043 a0001c0001t0027g0138 a0001c0001t0028g0143 a0001c0001t0028g0155 a0001c0001t0029g0076 a0001c0001t0029g0099 a0001c0001t0030g0109 a0001c0001t0030g0320 a0001c0001t0031g0037 a0001c0001t0031g0120 a0001c0001t0032g0150 a0001c0001t0032g0170 a0001c0001t0033g0121 a0001c0001t0033g0147 a0001c0001t0034g0044 a0001c0001t0035g0100 a0001c0001t0035g0114 a0001c0001t0036g0126 a0001c0001t0036g0127 a0001c0001t0037g0003 a0001c0001t0038g0145 a0001c0001t0038g0149 a0001c0001t0048g0310 a0001c0001t0048g0312 a0001c0001t0049g0094 a0001c0001t0054g0106 a0001c0001t0056g0165 a0001c0001t0057g0151 a0001c0001t0058g0108 a0001c0001t0059g0118 a0001c0001t0060g0111 a0001c0001t0061g0321 a0001c0001t0062g0039 a0001c0001t0063g0047 a0001c0001t0064g0318 a0001c0001t0065g0134 a0001c0001t0066g0116 a0001c0001t0067g0129 a0001c0001t0068g0107 a0001c0001t0069g0160 a0001c0001t0070g0084 a0001c0001t0071g0104 a0001c0001t0072g0172 a0001c0001t0073g0036 a0001c0001t0074g0139 a0001c0001t0075g0171 a0001c0001t0076g0119 a0001c0001t0077g0137 a0001c0001t0078g0144 a0001c0001t0079g0105 a0001c0001t0080g0178 a0001c0001t0081g0092 a0001c0001t0082g0079 a0001c0001t0083g0122 a0001c0001t0084g0124 a0001c0001t0085g0123 a0001c0001t0086g0152 a0001c0001t0087g0153 a0001c0001t0088g0157 a0001c0001t0089g0110 a0001c0001t0090g0045 a0001c0001t0091g0063 a0001c0001t0092g0050 a0001c0001t0093g0061 a0001c0001t0094g0053 a0001c0001t0095g0064 a0001c0001t0096g0065 a0001c0001t0110g0174 a0001c0001t0111g0186 a0001c0001t0134g0173 a0001c0001t0138g0330 a0001c0001t0139g0175 a0001c0001t0159g0185 a0001c0001t0160g0184 a0001c0001t0161g0062 a0001c0001t0166g0239 a0001c0001t0167g0305 a0001c0001t0168g0304 a0001c0001t0169g0293 a0001c0001t0170g0308 a0001c0001t0171g0295 a0001c0001t0172g0306 a0001c0001t0173g0300 a0002c0002t0002g0193 a0002c0002t0002g0196 a0002c0002t0002g0205 a0002c0002t0002g0219 a0002c0002t0002g0222 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0234 a0002c0002t0002g0236 a0002c0002t0002g0244 a0002c0002t0002g0279 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0003g0203 a0002c0002t0003g0233 a0002c0002t0003g0253 a0002c0002t0003g0257 a0002c0002t0003g0259 a0002c0002t0003g0261 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0268 a0002c0002t0005g0212 a0002c0002t0005g0217 a0002c0002t0005g0232 a0002c0002t0005g0267 a0002c0002t0005g0269 a0002c0002t0005g0274 a0002c0002t0005g0276 a0002c0002t0005g0313 a0002c0002t0008g0033 a0002c0002t0008g0195 a0002c0002t0008g0198 a0002c0002t0008g0202 a0002c0002t0008g0250 a0002c0002t0008g0262 a0002c0002t0008g0290 a0002c0002t0013g0192 a0002c0002t0013g0229 a0002c0002t0013g0230 a0002c0002t0013g0231 a0002c0002t0013g0242 a0002c0002t0018g0270 a0002c0002t0018g0275 a0002c0002t0018g0286 a0002c0002t0019g0207 a0002c0002t0019g0226 a0002c0002t0019g0256 a0002c0002t0019g0282 a0002c0002t0039g0248 a0002c0002t0039g0255 a0002c0002t0040g0220 a0002c0002t0040g0287 a0002c0002t0041g0285 a0002c0002t0041g0288 a0002c0002t0042g0200 a0002c0002t0042g0251 a0002c0002t0043g0182 a0002c0002t0043g0183 a0002c0002t0047g0197 a0002c0002t0047g0238 a0002c0002t0050g0190 a0002c0002t0051g0191 a0002c0002t0053g0260 a0002c0002t0055g0273 a0002c0002t0098g0283 a0002c0002t0099g0206 a0002c0002t0100g0281 a0002c0002t0101g0247 a0002c0002t0102g0252 a0002c0002t0103g0254 a0002c0002t0104g0243 a0002c0002t0105g0258 a0002c0002t0106g0245 a0002c0002t0107g0194 a0002c0002t0108g0237 a0002c0002t0109g0199 a0002c0002t0112g0223 a0002c0002t0113g0224 a0002c0002t0114g0225 a0002c0002t0115g0188 a0002c0002t0116g0187 a0002c0002t0117g0221 a0002c0002t0118g0278 a0002c0002t0119g0213 a0002c0002t0120g0209 a0002c0002t0121g0210 a0002c0002t0122g0280 a0002c0002t0123g0289 a0002c0002t0124g0189 a0002c0002t0125g0201 a0002c0002t0126g0284 a0002c0002t0127g0211 a0002c0002t0128g0215 a0002c0002t0129g0208 a0002c0002t0130g0216 a0002c0002t0131g0181 a0002c0002t0132g0272 a0002c0002t0142g0277 a0002c0002t0143g0204 a0002c0002t0147g0249 a0002c0002t0149g0218 a0002c0002t0158g0214 a0002c0002t0162g0241 a0002c0002t0163g0271 a0002c0002t0164g0246 a0002c0002t0165g0240 a0003c0003t0097g0034 a0004c0004t0005g0031 a0004c0004t0133g0032 a0005c0007t0018g0235 a0006c0006t0006g0133 a0007c0005t0034g0041	296	334	0.8862	21	c.971 others(36): Show c.971+700_971+701insGTATTATTCAAAATAGCCCCA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP27C1_chr2_127178832_127225299	127204625	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03209.hp1 HG03139.hp2 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0006 a0002c0004t0019 a0002c0003t0006 a0002c0004t0019	a0002c0003t0006g0026 a0002c0004t0019g0015 a0002c0003t0006g0026 a0002c0004t0019g0015	2	352	0.0057	21	c.474 others(38): Show c.474-1055_474-1054insTCTTTCTTTCTTTCTTTCTTT	CYP27C1	ENSG00000186684.14	transcript	ENST00000664447.2	protein_coding	2/8			chr2	TogoVar
CYP2B6_chr19_40986282_41023398	40992201	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0051 a0001c0018t0051	a0001c0018t0051g0067 a0001c0018t0051g0067	1	440	0.0023	21	c.171 others(36): Show c.171+745_171+746insAAAAAAAAAAAAAAAAAAAAA	CYP2B6	ENSG00000197408.10	transcript	ENST00000324071.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP2C18_chr10_94678729_94741190	94712008	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02293.hp2 HG02451.hp1 others(2): Show HG00639.hp1 HG02293.hp2 HG02451.hp1 NA18985.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0003 a0001c0001t0004 a0002c0002t0003	a0001c0001t0004g0028 a0001c0001t0004g0124 a0002c0002t0003g0080 others(1): Show a0001c0001t0004g0028 a0001c0001t0004g0124 a0002c0002t0003g0080 a0002c0002t0003g0085	5	378	0.0132	21	c.819 others(38): Show c.819+5068_819+5069insTTTTTTTTTTTTTTTTTTTTT	CYP2C18	ENSG00000108242.13	transcript	ENST00000285979.11	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
CYP2S1_chr19_41188219_41212539	41205342	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	422	0.0024	21	c.116 others(38): Show c.1165-616_1165-615insCTTTCTTTCTTTCTTTCTTTC	CYP2S1	ENSG00000167600.14	transcript	ENST00000310054.9	protein_coding	7/8			chr19	TogoVar
CYP2S1_chr19_41188219_41212539	41205342	T T	TTTTTCTT others(14): Show TTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19089.hp1 NA19003.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0219 a0001c0001t0001g0063 a0001c0001t0001g0219	2	422	0.0047	21	c.116 others(38): Show c.1165-613_1165-612insTCTTTCTTTCTTTCTTTCTTT	CYP2S1	ENSG00000167600.14	transcript	ENST00000310054.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP39A1_chr6_46544580_46657818	46616163	T T	TCTTTCTT others(14): Show TCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	310	0.0032	21	c.931 others(38): Show c.931+9254_931+9255insGAAAGAAAGAAAGAAAGAAAG	CYP39A1	ENSG00000146233.8	transcript	ENST00000275016.3	protein_coding	7/11			chr6	TogoVar
CYP4F11_chr19_15907377_15939529	15931575	A A	AGTGAGCG others(14): Show AGTGAGCGAGGAGAGGAATGAT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0314 a0002c0001t0029g0314	1	386	0.0026	21	c.199 others(38): Show c.199-1975_199-1974insATCATTCCTCTCCTCGCTCAC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15931659	A A	AGTGAGGA others(14): Show AGTGAGGAGAGGAATGAGTGAG	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0373 a0002c0001t0013g0373	1	386	0.0026	21	c.199 others(38): Show c.199-2059_199-2058insCTCACTCATTCCTCTCCTCAC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932775	A A	AGTGAGCG others(14): Show AGTGAGCGAGGAGAGGAATGAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0186 a0002c0001t0186	a0002c0001t0186g0359 a0002c0001t0186g0359	1	386	0.0026	21	c.198 others(38): Show c.198+1435_198+1436insCTCATTCCTCTCCTCGCTCAC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932823	A A	AGGCAGAG others(14): Show AGGCAGAGGAATGAGTGAGCGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0015 a0002c0001t0015	a0002c0001t0015g0180 a0002c0001t0015g0180	1	386	0.0026	21	c.198 others(38): Show c.198+1387_198+1388insCCGCTCACTCATTCCTCTGCC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F12_chr19_15668087_15702174	15689143	A A	AATAATAA others(14): Show AATAATAATAATAATAATAATC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0004 a0014c0021t0004	a0014c0021t0004g0206 a0014c0021t0004g0206	1	410	0.0024	21	c.111 others(40): Show c.1115+3949_1115+3950insATAATAATAATAATAATCATA	CYP4F12	ENSG00000186204.15	transcript	ENST00000550308.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F22_chr19_15503525_15557317	15547018	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0009 a0005c0006t0005g0009	1	384	0.0026	21	c.113 others(40): Show c.1137-1088_1137-1068dupTTTTTTTTTTTTTTTTTTTTT	CYP4F22	ENSG00000171954.13	transcript	ENST00000269703.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650676	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0050 a0001c0004t0007g0050	1	424	0.0024	21	c.918 others(36): Show c.918+496_918+516dupTCTTTCTTTCTTTCTTTCTTT	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15650883	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	424	0.0024	21	c.918 others(36): Show c.918+700_918+701insCTCTCTCTCTCTCTCTCTCTC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	7/12			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15656524	T T	TCTATGTA others(14): Show TCTATGTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG02683.hp1 others(3): Show HG01256.hp2 HG01258.hp2 HG02683.hp1 HG03704.hp1 HG03834.hp2 NA18959.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0007 a0001c0004t0011 others(1): Show a0001c0004t0005 a0001c0004t0007 a0001c0004t0011 a0001c0004t0042	a0001c0004t0005g0004 a0001c0004t0005g0055 a0001c0004t0005g0065 others(3): Show a0001c0004t0005g0004 a0001c0004t0005g0055 a0001c0004t0005g0065 a0001c0004t0007g0050 a0001c0004t0011g0064 a0001c0004t0042g0004	6	424	0.0142	21	c.111 others(40): Show c.1116-1740_1116-1739insCTATGTATCTATCTATCTATC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	9/12			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15656524	T T	TGTATCTA others(14): Show TGTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0023 a0001c0005t0004g0023	1	424	0.0024	21	c.111 others(40): Show c.1116-1740_1116-1739insGTATCTATCTATCTATCTATC	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	9/12			chr19	TogoVar
CYP4F3_chr19_15635897_15667825	15662270	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0201 a0001c0001t0054g0201	1	424	0.0024	21	c.28 others(32): Show c.2885_*2886insAAAAAAAAAAAAAAAAAAAAA	CYP4F3	ENSG00000186529.16	transcript	ENST00000221307.13	protein_coding	13/13	2886		chr19	TogoVar
CYP4X1_chr1_47018669_47055751	47036365	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	350	0.0029	21	c.775 others(36): Show c.775+194_775+195insTATATATATATATATATATAT	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11			chr1	TogoVar
CYP4X1_chr1_47018669_47055751	47036368	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	350	0.0029	21	c.775 others(36): Show c.775+197_775+198insATATATATATATATATATATA	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11			chr1	TogoVar
CYP4X1_chr1_47018669_47055751	47036370	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	350	0.0029	21	c.775 others(36): Show c.775+199_775+200insATATATATATATATATATATA	CYP4X1	ENSG00000186377.8	transcript	ENST00000371901.4	protein_coding	6/11			chr1	TogoVar
CYP7B1_chr8_64585851_64803737	64771047	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02818.hp2 NA19030.hp1 HG01109.hp1 HG02818.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0002c0002t0009 a0001c0001t0008 a0002c0002t0009	a0001c0001t0008g0069 a0001c0001t0008g0071 a0002c0002t0009g0015 a0001c0001t0008g0069 a0001c0001t0008g0071 a0002c0002t0009g0015	3	258	0.0116	21	c.122 others(40): Show c.122+27398_122+27418dupAAAAAAAAAAAAAAAAAAAAA	CYP7B1	ENSG00000172817.4	transcript	ENST00000310193.4	protein_coding	1/5			chr8	TogoVar
CYSLTR2_chr13_48648929_48716226	48695068	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0007 a0005c0008t0007	a0005c0008t0007g0100 a0005c0008t0007g0100	1	318	0.0031	21	c.-10 others(40): Show c.-102-1452_-102-1432dupTTTTTTTTTTTTTTTTTTTTT	CYSLTR2	ENSG00000152207.8	transcript	ENST00000682523.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
CYTH3_chr7_6156779_6277624	6259757	T T	TTATATAT others(14): Show TTATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03688.hp2 NA19084.hp1 HG03492.hp1 HG03688.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0091 a0001c0001t0003g0277 a0001c0001t0004g0104 a0001c0001t0003g0091 a0001c0001t0003g0277 a0001c0001t0004g0104	3	348	0.0086	21	c.34+ others(38): Show c.34+12716_34+12717insTTATATATATATATATATATA	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TAATATAT others(14): Show TAATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0109 a0001c0002t0004g0109	1	348	0.0029	21	c.34+ others(38): Show c.34+12701_34+12702insTTATATATATATATATATATT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
CYTH3_chr7_6156779_6277624	6259772	T T	TATAATAT others(14): Show TATAATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02074.hp2 HG02735.hp1 others(9): Show HG00621.hp2 HG02074.hp2 HG02735.hp1 NA18945.hp1 NA18955.hp2 NA18959.hp1 NA18982.hp2 NA18989.hp1 NA18990.hp2 NA18999.hp2 NA19054.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0038	a0001c0001t0002g0115 a0001c0001t0002g0257 a0001c0001t0003g0087 others(9): Show a0001c0001t0002g0115 a0001c0001t0002g0257 a0001c0001t0003g0087 a0001c0001t0003g0114 a0001c0001t0003g0118 a0001c0001t0003g0132 a0001c0001t0003g0147 a0001c0001t0003g0276 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0006g0116 a0001c0001t0038g0117	12	348	0.0345	21	c.34+ others(38): Show c.34+12701_34+12702insTTATATATATATATATATTAT	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
DAAM1_chr14_59183667_59376403	59289784	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0255 a0001c0001t0012g0255	1	298	0.0034	21	c.184 others(38): Show c.184-1433_184-1432insTATATATATATATATATATAT	DAAM1	ENSG00000100592.16	transcript	ENST00000360909.8	protein_coding	2/24			chr14	TogoVar
DAAM2_chr6_39787376_39909869	39789919	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0278 a0001c0002t0002g0278	1	300	0.0033	21	c.-26 others(32): Show c.-2603_-2602insAAAAAAAAAAAAAAAAAAAAA	DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding		2456		chr6	TogoVar
DAAM2_chr6_39787376_39909869	39898416	A A	AGCATCTG others(14): Show AGCATCTGCTAGGCAAGATATC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0154 a0001c0003t0003g0154	1	300	0.0033	21	c.261 others(38): Show c.2619-460_2619-440dupGCATCTGCTAGGCAAGATATC	DAAM2	ENSG00000146122.17	transcript	ENST00000274867.9	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
DAB1_chr1_56989778_57429060	57207446	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02897.hp1 HG01109.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0111 a0001c0001t0008g0025 a0001c0001t0001g0111 a0001c0001t0008g0025	2	138	0.0145	21	c.68- others(38): Show c.68-62018_68-62017insAAAAAAAAAAAAAAAAAAAAA	DAB1	ENSG00000173406.16	transcript	ENST00000371236.7	protein_coding	2/14			chr1	TogoVar
DAB2IP_chr9_121646634_121790530	121757271	G G	GGGCCAGG others(14): Show GGGCCAGGATCTTGGGGATAGT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0142 a0007c0016t0001g0142	1	224	0.0045	21	c.516 others(36): Show c.516+112_516+113insATCTTGGGGATAGTGGCCAGG	DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAB2IP_chr9_121646634_121790530	121757279	G G	GTCTTGGG others(14): Show GTCTTGGGGATAGTGGCCAGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02280.hp1 others(15): Show HG01109.hp2 HG02109.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG06807.hp1 NA19030.hp1 NA19043.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0005 a0001c0007 others(2): Show a0001c0001 a0001c0005 a0001c0007 a0003c0006 a0007c0015	a0001c0001t0009 a0001c0005t0002 a0001c0005t0021 others(7): Show a0001c0001t0009 a0001c0005t0002 a0001c0005t0021 a0001c0005t0028 a0001c0005t0029 a0001c0007t0005 a0001c0007t0033 a0003c0006t0001 a0003c0006t0002 a0007c0015t0002	a0001c0001t0009g0171 a0001c0001t0009g0176 a0001c0005t0002g0014 others(13): Show a0001c0001t0009g0171 a0001c0001t0009g0176 a0001c0005t0002g0014 a0001c0005t0002g0172 a0001c0005t0002g0174 a0001c0005t0021g0013 a0001c0005t0028g0206 a0001c0005t0029g0217 a0001c0007t0005g0010 a0001c0007t0005g0138 a0001c0007t0005g0139 a0001c0007t0033g0137 a0003c0006t0001g0064 a0003c0006t0002g0001 a0003c0006t0002g0063 a0007c0015t0002g0177	18	224	0.0804	21	c.516 others(36): Show c.516+122_516+123insTAGTGGCCAGGCTCTTGGGGA	DAB2IP	ENSG00000136848.19	transcript	ENST00000408936.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
DACH1_chr13_71432966_71872204	71821429	A A	ATTTAAAT others(14): Show ATTTAAATTTAAATTCTAAGAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0071	1	102	0.0098	21	c.848 others(40): Show c.848+44492_848+44493insATCTTAGAATTTAAATTTAAA	DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10			chr13	TogoVar
DACH2_chrX_86143451_86837602	86147115	A A	AAAAAAGT others(14): Show AAAAAAGTATGTATATGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 NA19043.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0125 a0001c0001t0001g0001 a0001c0001t0004g0125	2	166	0.0121	21	c.-15 others(32): Show c.-1506_-1505insAAAAAGTATGTATATGTGTGT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding		1335		chrX	TogoVar
DACH2_chrX_86143451_86837602	86546357	C C	CTCTTCTT others(14): Show CTCTTCTTCTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01074.hp1 HG01255.hp1 others(6): Show HG00738.hp1 HG01074.hp1 HG01255.hp1 HG02055.hp1 HG02083.hp1 HG02922.hp2 HG03688.hp1 NA19009.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0088 others(6): Show a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0001t0001g0164 a0001c0001t0002g0102 a0001c0001t0002g0103	9	166	0.0542	21	c.640 others(40): Show c.640+31993_640+32013dupTTCTTCTTCTTCTTCTTCTTC	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(14): Show CTTCTTCTTCTTCTTCCTTCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG02615.hp1 others(2): Show HG01884.hp1 HG02451.hp2 HG02615.hp1 HG03041.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(2): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0130 a0001c0001t0002g0156	5	166	0.0301	21	c.640 others(40): Show c.640+32013_640+32014insTTCTTCTTCTTCTTCCTTCTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11			chrX	TogoVar
DACH2_chrX_86143451_86837602	86546404	C C	CTTCTTCT others(14): Show CTTCTTCTTCTTCTTCTTCCTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	166	0.0060	21	c.640 others(40): Show c.640+32013_640+32014insTTCTTCTTCTTCTTCTTCCTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	3/11			chrX	TogoVar
DACH2_chrX_86143451_86837602	86667545	G G	GAAAGAAA others(14): Show GAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19006.hp1 HG02027.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0087 a0001c0001t0002g0153 a0001c0001t0001g0087 a0001c0001t0002g0153	2	166	0.0121	21	c.772 others(40): Show c.772+16380_772+16381insAGAAAGAAAGAAAGAAAGAAA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86698521	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19002.hp1 HG02451.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0143 a0001c0001t0001g0002 a0001c0001t0001g0143	2	166	0.0121	21	c.931 others(38): Show c.931+3349_931+3369dupTTTTTTTTTTTTTTTTTTTTT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86705029	T T	TATATATA others(14): Show TATATATATATATATATCTCAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01074.hp1 HG01192.hp1 others(10): Show HG00140.hp1 HG01074.hp1 HG01192.hp1 HG01433.hp1 HG01884.hp1 HG02451.hp2 HG02559.hp1 HG02922.hp2 HG03516.hp1 HG03654.hp1 HG04199.hp1 NA20805.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0093 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0003c0002t0001g0013	13	166	0.0783	21	c.932 others(38): Show c.932-9489_932-9469dupATATATATCTCACATATATAT	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DACH2_chrX_86143451_86837602	86707912	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA19007.hp1 HG01106.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0066 a0001c0001t0002g0021 a0001c0001t0002g0066	2	166	0.0121	21	c.932 others(38): Show c.932-6618_932-6617insAAAAAAAAAAAAAAAAAAAAA	DACH2	ENSG00000126733.22	transcript	ENST00000373125.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
DAG1_chr3_49465267_49540615	49528275	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	238	0.0042	21	c.286 others(38): Show c.286-2515_286-2495dupTTTTTTTTTTTTTTTTTTTTT	DAG1	ENSG00000173402.13	transcript	ENST00000308775.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
DAOA_chr13_105461045_105496034	105493422	C C	CTCTCTCT others(14): Show CTCTCTCTCATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0248 a0001c0001t0007g0248	1	412	0.0024	21	c.26 others(32): Show c.2622_*2623insTCTCTCTCATATATATATATA	DAOA	ENSG00000182346.22	transcript	ENST00000375936.9	protein_coding		2389		chr13	TogoVar
DAPK1_chr9_87492867_87713634	87662560	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01928.hp2 HG01934.hp2 others(2): Show HG00323.hp2 HG01928.hp2 HG01934.hp2 HG02300.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0006t0001	a0001c0001t0001g0101 a0001c0001t0001g0186 a0001c0002t0001g0166 others(2): Show a0001c0001t0001g0101 a0001c0001t0001g0186 a0001c0002t0001g0166 a0001c0004t0001g0002 a0002c0006t0001g0064	5	236	0.0212	21	c.192 others(40): Show c.1923+4438_1923+4458dupTTTTTTTTTTTTTTTTTTTTT	DAPK1	ENSG00000196730.13	transcript	ENST00000408954.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
DAPK2_chr15_63902036_64051485	64033286	G G	GAAGGAAG others(14): Show GAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG04115.hp2 HG02280.hp1 HG02451.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0037 a0001c0001t0011 a0001c0001t0012 a0001c0001t0037	a0001c0001t0011g0027 a0001c0001t0012g0185 a0001c0001t0037g0192 a0001c0001t0011g0027 a0001c0001t0012g0185 a0001c0001t0037g0192	3	214	0.0140	21	c.92+ others(36): Show c.92+6883_92+6884insTCCTTCCTTCCTTCCTTCCTT	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK2_chr15_63902036_64051485	64033325	G G	GAAGGAAG others(14): Show GAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02717.hp1 HG01069.hp2 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0076 a0001c0001t0001g0077	2	214	0.0094	21	c.92+ others(36): Show c.92+6844_92+6845insTCCTTCCTTCCTTCCTTCCTT	DAPK2	ENSG00000035664.11	transcript	ENST00000457488.6	protein_coding	2/11			chr15	TogoVar
DAPK3_chr19_3953453_3976099	3953637	A A	AGGGGGGC others(14): Show AGGGGGGCGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	364	0.0028	21	c.54 others(32): Show c.5463_*5464insCCCCCCCCCCCCCCGCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4815		chr19	TogoVar
DAPK3_chr19_3953453_3976099	3953645	G G	GGGGGGGG others(14): Show GGGGGGGGGGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	21	c.54 others(32): Show c.5455_*5456insGCCCCCCCCCCCCCCCCCCCC	DAPK3	ENSG00000167657.14	transcript	ENST00000545797.7	protein_coding		4807		chr19	TogoVar
DAP_chr5_10674230_10766234	10707460	T T	TGATGCAC others(14): Show TGATGCACGGGTGATGTGGTGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0193 a0001c0001t0010g0193	1	372	0.0027	21	c.153 others(40): Show c.153-23910_153-23890dupGCACCACATCACCCGTGCATC	DAP	ENSG00000112977.16	transcript	ENST00000230895.11	protein_coding	2/3			chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)