Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATAT1_chr6_30621874_30651821	30650700	T T	TGCACATT others(13): Show TGCACATTTTCTCGTTTTTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	405	0.0025	20	c.40 others(31): Show c.4057_*4058insGCACATTTTCTCGTTTTTGC	ATAT1	ENSG00000137343.18	transcript	ENST00000376485.9	protein_coding		3880		chr6	TogoVar
ATCAY_chr19_3875685_3933082	3884286	C C	CTAAATAA others(13): Show CTAAATAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0383 a0001c0001t0002g0383	1	384	0.0026	20	c.-41 others(37): Show c.-41-1436_-41-1417dupTAAATAAATAAATAAATAAA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATCAY_chr19_3875685_3933082	3914235	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp2 HG03225.hp1 HG02622.hp1 HG02809.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0290 a0001c0002t0009g0333 a0001c0002t0009g0334 a0001c0002t0009g0290 a0001c0002t0009g0333 a0001c0002t0009g0334	3	384	0.0078	20	c.965 others(35): Show c.965+394_965+395insAAAAAAAAAAAAAAAAAAAA	ATCAY	ENSG00000167654.18	transcript	ENST00000450849.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ATE1_chr10_121735424_121933031	121842816	A A	AACAAACT others(13): Show AACAAACTGGGAACAGTTTGT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	320	0.0031	20	c.976 others(37): Show c.976-1554_976-1553insACAAACTGTTCCCAGTTTGT	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	8/11			chr10	TogoVar
ATE1_chr10_121735424_121933031	121858660	A A	ATATATAT others(13): Show ATATATATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(272): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0009 a0001c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0016 a0001c0002t0021 a0001c0002t0022 a0001c0005t0004 a0001c0005t0007 a0001c0005t0009 a0001c0007t0003 a0001c0007t0005 a0001c0009t0001 a0001c0009t0023 a0001c0011t0008	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(272): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0057 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0201 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0260 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0047 a0001c0001t0002g0146 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0219 a0001c0001t0002g0245 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0265 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0003g0072 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0004g0067 a0001c0001t0004g0218 a0001c0001t0005g0016 a0001c0001t0006g0066 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0081 a0001c0001t0006g0087 a0001c0001t0006g0204 a0001c0001t0007g0046 a0001c0001t0007g0145 a0001c0001t0007g0170 a0001c0001t0008g0071 a0001c0001t0010g0043 a0001c0001t0010g0157 a0001c0001t0013g0001 a0001c0001t0013g0002 a0001c0001t0014g0085 a0001c0001t0014g0086 a0001c0001t0015g0208 a0001c0001t0017g0104 a0001c0001t0018g0240 a0001c0001t0019g0143 a0001c0001t0020g0190 a0001c0002t0001g0005 a0001c0002t0001g0019 a0001c0002t0001g0033 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0076 a0001c0002t0001g0092 a0001c0002t0001g0108 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0139 a0001c0002t0001g0150 a0001c0002t0001g0158 a0001c0002t0001g0171 a0001c0002t0001g0175 a0001c0002t0001g0202 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0239 a0001c0002t0001g0244 a0001c0002t0001g0258 a0001c0002t0001g0270 a0001c0002t0001g0272 a0001c0002t0002g0013 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0041 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0048 a0001c0002t0002g0059 a0001c0002t0002g0065 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0147 a0001c0002t0002g0237 a0001c0002t0002g0247 a0001c0002t0002g0253 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0003g0003 a0001c0002t0003g0037 a0001c0002t0003g0078 a0001c0002t0003g0100 a0001c0002t0003g0114 a0001c0002t0003g0119 a0001c0002t0003g0127 a0001c0002t0003g0173 a0001c0002t0003g0262 a0001c0002t0003g0271 a0001c0002t0004g0004 a0001c0002t0004g0020 a0001c0002t0004g0021 a0001c0002t0004g0023 a0001c0002t0004g0024 a0001c0002t0004g0025 a0001c0002t0004g0026 a0001c0002t0004g0074 a0001c0002t0004g0075 a0001c0002t0004g0077 a0001c0002t0004g0093 a0001c0002t0004g0137 a0001c0002t0004g0205 a0001c0002t0005g0022 a0001c0002t0005g0079 a0001c0002t0005g0080 a0001c0002t0005g0194 a0001c0002t0005g0207 a0001c0002t0006g0073 a0001c0002t0006g0088 a0001c0002t0006g0089 a0001c0002t0006g0090 a0001c0002t0006g0126 a0001c0002t0006g0203 a0001c0002t0006g0211 a0001c0002t0007g0031 a0001c0002t0007g0096 a0001c0002t0007g0232 a0001c0002t0007g0236 a0001c0002t0007g0246 a0001c0002t0007g0264 a0001c0002t0008g0027 a0001c0002t0008g0028 a0001c0002t0008g0029 a0001c0002t0008g0030 a0001c0002t0009g0068 a0001c0002t0009g0109 a0001c0002t0010g0014 a0001c0002t0010g0094 a0001c0002t0012g0050 a0001c0002t0012g0051 a0001c0002t0012g0064 a0001c0002t0016g0156 a0001c0002t0021g0034 a0001c0002t0022g0243 a0001c0005t0004g0313 a0001c0005t0007g0317 a0001c0005t0009g0314 a0001c0005t0009g0318 a0001c0005t0009g0319 a0001c0007t0003g0266 a0001c0007t0005g0229 a0001c0007t0005g0230 a0001c0009t0001g0316 a0001c0009t0023g0315 a0001c0011t0008g0311	275	320	0.8594	20	c.975 others(39): Show c.975+11345_975+11346insAAATATATATTATATATATA	ATE1	ENSG00000107669.19	transcript	ENST00000224652.12	protein_coding	8/11			chr10	TogoVar
ATF2_chr2_175067259_175173203	175110337	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG02622.hp2 others(12): Show HG01109.hp1 HG01496.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02738.hp2 HG02896.hp1 HG02965.hp1 HG03195.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp1 HG03927.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0001 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(12): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0011g0010 a0001c0001t0013g0014	15	224	0.0670	20	c.828 others(37): Show c.828+1211_828+1230dupATTTATTTATTTATTTATTT	ATF2	ENSG00000115966.18	transcript	ENST00000264110.7	protein_coding	10/13			chr2	TogoVar
ATF4_chr22_39515562_39527683	39523993	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA19059.hp1 NA18974.hp1 NA19059.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	354	0.0057	20	c.13 others(31): Show c.1391_*1392insTTTTTTTTTTTTTTTTTTTT	ATF4	ENSG00000128272.18	transcript	ENST00000674920.3	protein_coding		1311		chr22	TogoVar
ATF6_chr1_161761320_161969070	161920294	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02132.hp2 NA18969.hp2 others(1): Show HG00408.hp2 HG02132.hp2 NA18969.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0122 a0001c0001t0005g0130 a0001c0001t0005g0139 others(1): Show a0001c0001t0005g0122 a0001c0001t0005g0130 a0001c0001t0005g0139 a0001c0001t0005g0140	4	332	0.0121	20	c.180 others(39): Show c.1804+7932_1804+7933insTTTTTTTTTTTTTTTTTTTT	ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF7_chr12_53507054_53631382	53529710	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp2 HG01891.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0030 a0001c0003t0001 a0001c0003t0030	a0001c0003t0001g0235 a0001c0003t0030g0330 a0001c0003t0001g0235 a0001c0003t0030g0330	2	330	0.0061	20	c.927 others(37): Show c.927+2014_927+2033dupGTGTGTGTGTGTGTGTGTGT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	9/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53529710	T T	TATACACA others(13): Show TATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18993.hp1 HG03942.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0153 a0001c0001t0002g0122 a0001c0001t0002g0153	2	330	0.0061	20	c.927 others(37): Show c.927+2033_927+2034insGTGTGTGTGTGTGTGTGTAT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	9/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53529734	C C	CACACACA others(13): Show CACACACACACACACACATAT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	330	0.0030	20	c.927 others(37): Show c.927+2009_927+2010insATATGTGTGTGTGTGTGTGT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	9/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53535328	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	330	0.0030	20	c.403 others(35): Show c.403-670_403-669insTTTTTTTTTTTTTTTTTTTT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	5/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587820	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02258.hp2 HG02451.hp1 HG02080.hp1 HG02258.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0052 a0001c0001t0001g0091 a0001c0006t0001g0082 a0001c0001t0001g0052 a0001c0001t0001g0091 a0001c0006t0001g0082	3	330	0.0091	20	c.48+ others(37): Show c.48+13113_48+13132dupATATATATATATATATATAT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587820	C C	CATATATA others(13): Show CATATATATATATATATATGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp2 HG01891.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0030 a0001c0003t0001 a0001c0003t0030	a0001c0003t0001g0235 a0001c0003t0030g0330 a0001c0003t0001g0235 a0001c0003t0030g0330	2	330	0.0061	20	c.48+ others(37): Show c.48+13132_48+13133insACATATATATATATATATAT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATG10_chr5_81967023_82261133	81967163	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(87): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG01891.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02145.hp1 HG02165.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18952.hp1 NA18952.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18972.hp1 NA18974.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA19003.hp1 NA19003.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(25): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0043 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0030 a0002c0002t0032 a0002c0002t0034 a0002c0002t0035 a0002c0002t0040 a0002c0002t0045 a0003c0003t0001 a0003c0003t0003 a0003c0003t0007 a0003c0003t0012 a0004c0004t0002 a0004c0004t0008 a0004c0004t0013 a0004c0004t0027 a0005c0005t0010 a0005c0005t0029	a0001c0001t0001g0009 a0001c0001t0001g0108 a0001c0001t0001g0157 others(87): Show a0001c0001t0001g0009 a0001c0001t0001g0108 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0192 a0001c0001t0003g0051 a0001c0001t0003g0058 a0001c0001t0003g0111 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0005g0022 a0001c0001t0005g0025 a0001c0001t0009g0216 a0001c0001t0009g0218 a0001c0001t0012g0154 a0001c0001t0012g0155 a0001c0001t0014g0217 a0001c0001t0014g0219 a0001c0001t0016g0031 a0001c0001t0016g0032 a0001c0001t0043g0017 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0066 a0002c0002t0002g0069 a0002c0002t0002g0088 a0002c0002t0002g0093 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0004g0085 a0002c0002t0004g0117 a0002c0002t0004g0148 a0002c0002t0006g0071 a0002c0002t0006g0095 a0002c0002t0006g0107 a0002c0002t0006g0112 a0002c0002t0006g0116 a0002c0002t0008g0059 a0002c0002t0030g0084 a0002c0002t0032g0120 a0002c0002t0034g0086 a0002c0002t0035g0063 a0002c0002t0040g0004 a0002c0002t0045g0072 a0003c0003t0001g0171 a0003c0003t0001g0175 a0003c0003t0001g0176 a0003c0003t0001g0178 a0003c0003t0001g0189 a0003c0003t0001g0191 a0003c0003t0001g0194 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0206 a0003c0003t0003g0207 a0003c0003t0007g0041 a0003c0003t0012g0193 a0004c0004t0002g0172 a0004c0004t0002g0173 a0004c0004t0002g0174 a0004c0004t0002g0179 a0004c0004t0002g0180 a0004c0004t0002g0182 a0004c0004t0002g0185 a0004c0004t0002g0187 a0004c0004t0002g0195 a0004c0004t0008g0198 a0004c0004t0013g0196 a0004c0004t0027g0186 a0005c0005t0010g0001 a0005c0005t0010g0002 a0005c0005t0010g0006 a0005c0005t0010g0007 a0005c0005t0010g0008 a0005c0005t0010g0068 a0005c0005t0029g0005	90	226	0.3982	20	c.-51 others(31): Show c.-5156_-5155insAAAATAAAATAAAATAAAAT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding		4859		chr5	TogoVar
ATG10_chr5_81967023_82261133	81993352	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG03098.hp2 HG03834.hp2 others(1): Show HG02080.hp1 HG03098.hp2 HG03834.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0003c0003t0007 a0003c0003t0037 a0001c0001t0005 a0003c0003t0007 a0003c0003t0037	a0001c0001t0005g0011 a0001c0001t0005g0013 a0003c0003t0007g0044 others(1): Show a0001c0001t0005g0011 a0001c0001t0005g0013 a0003c0003t0007g0044 a0003c0003t0037g0036	4	226	0.0177	20	c.108 others(37): Show c.108+5681_108+5682insTTTCTTTCTTTCCTTCTTTC	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82118387	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp2 HG02976.hp2 others(5): Show HG02647.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03453.hp2 HG03471.hp1 HG03579.hp2 HG04199.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0018 a0008c0008t0026	a0001c0001t0001g0137 a0001c0001t0001g0166 a0001c0001t0003g0130 others(5): Show a0001c0001t0001g0137 a0001c0001t0001g0166 a0001c0001t0003g0130 a0001c0001t0005g0011 a0001c0001t0005g0025 a0001c0001t0014g0217 a0001c0001t0018g0168 a0008c0008t0026g0208	8	226	0.0354	20	c.217 others(39): Show c.217-45994_217-45993insATATATATATATATATATAT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82121941	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	226	0.0044	20	c.217 others(39): Show c.217-42439_217-42438insTTTTTTTTTTTTTTTTTTTT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG10_chr5_81967023_82261133	82161696	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02109.hp1 HG02280.hp1 others(3): Show HG01256.hp2 HG02109.hp1 HG02280.hp1 HG03209.hp2 NA18939.hp1 NA18962.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0003 a0001c0001t0016 a0001c0001t0021 others(2): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0021 a0002c0002t0006 a0005c0005t0010	a0001c0001t0003g0146 a0001c0001t0016g0032 a0001c0001t0021g0145 others(3): Show a0001c0001t0003g0146 a0001c0001t0016g0032 a0001c0001t0021g0145 a0002c0002t0006g0112 a0005c0005t0010g0008 a0005c0005t0010g0068	6	226	0.0266	20	c.217 others(37): Show c.217-2685_217-2666dupCACACACACACACACACACA	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG14_chr14_55361391_55416830	55402926	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0046 a0001c0002t0002g0046	1	366	0.0027	20	c.222 others(37): Show c.222-5493_222-5492insATATATATATATATATATTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG16L1_chr2_233246673_233300669	233289376	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0250 a0002c0002t0002g0250	1	354	0.0028	20	c.120 others(37): Show c.1204-478_1204-477insGTGTGTGTGTGTGTGTGTGT	ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17			chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233289377	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG01081.hp2 others(21): Show HG00099.hp1 HG00558.hp1 HG01081.hp2 HG01517.hp2 HG01943.hp1 HG01978.hp1 HG02040.hp2 HG02155.hp2 HG02523.hp1 HG03471.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG04184.hp1 NA18939.hp1 NA18947.hp1 NA18983.hp2 NA18994.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19077.hp1 NA19089.hp1 NA20905.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0004c0009 a0005c0006	a0001c0001t0003 a0001c0001t0019 a0002c0002t0002 others(4): Show a0001c0001t0003 a0001c0001t0019 a0002c0002t0002 a0002c0002t0005 a0002c0004t0002 a0004c0009t0002 a0005c0006t0003	a0001c0001t0003g0153 a0001c0001t0003g0158 a0001c0001t0003g0160 others(20): Show a0001c0001t0003g0153 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0167 a0001c0001t0003g0176 a0001c0001t0003g0180 a0001c0001t0019g0170 a0002c0002t0002g0034 a0002c0002t0002g0210 a0002c0002t0002g0216 a0002c0002t0002g0223 a0002c0002t0002g0239 a0002c0002t0002g0245 a0002c0002t0002g0249 a0002c0002t0002g0280 a0002c0002t0005g0230 a0002c0002t0005g0235 a0002c0002t0005g0257 a0002c0002t0005g0260 a0002c0002t0005g0278 a0002c0004t0002g0208 a0004c0009t0002g0266 a0005c0006t0003g0162	24	354	0.0678	20	c.120 others(37): Show c.1204-464_1204-445dupTGTGTGTGTGTGTGTGTGTG	ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233289408	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02809.hp2 HG02559.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0190 a0001c0001t0003g0191	2	354	0.0057	20	c.120 others(37): Show c.1204-445_1204-444insTGTGTGTGTGAGAGAGAGAG	ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233289408	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03540.hp2 HG03579.hp1 others(1): Show HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0023 a0001c0001t0004 a0001c0001t0023	a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0114 others(1): Show a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0114 a0001c0001t0023g0110	4	354	0.0113	20	c.120 others(37): Show c.1204-445_1204-444insTGTGTGTGTGTGAGAGAGAG	ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG16L1_chr2_233246673_233300669	233296608	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	354	0.0028	20	c.22 others(31): Show c.2258_*2259insGTGTGTGTGTGTGTGTGTGT	ATG16L1	ENSG00000085978.22	transcript	ENST00000392017.9	protein_coding		940		chr2	TogoVar
ATG2A_chr11_64889546_64922209	64920943	C C	CTATATAT others(13): Show CTATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	372	0.0027	20	c.-38 others(31): Show c.-3809_-3808insTATATATATATATATATATA	ATG2A	ENSG00000110046.14	transcript	ENST00000377264.8	protein_coding		3735		chr11	TogoVar
ATG2B_chr14_96274195_96368341	96295727	C C	CCACACAC others(13): Show CCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00738.hp1 others(15): Show HG00609.hp1 HG00639.hp2 HG00738.hp1 HG01169.hp2 HG01496.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 NA18906.hp1 NA18942.hp1 NA18955.hp1 NA18963.hp2 NA18994.hp1 NA19086.hp2	a0001 a0002 a0014 others(1): Show a0001 a0002 a0014 a0028	a0001c0002 a0001c0005 a0001c0032 others(3): Show a0001c0002 a0001c0005 a0001c0032 a0002c0001 a0014c0019 a0028c0031	a0001c0002t0001 a0001c0005t0005 a0001c0032t0056 others(4): Show a0001c0002t0001 a0001c0005t0005 a0001c0032t0056 a0002c0001t0006 a0002c0001t0042 a0014c0019t0001 a0028c0031t0001	a0001c0002t0001g0011 a0001c0002t0001g0263 a0001c0002t0001g0270 others(14): Show a0001c0002t0001g0011 a0001c0002t0001g0263 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0291 a0001c0002t0001g0294 a0001c0002t0001g0324 a0001c0005t0005g0056 a0001c0032t0056g0310 a0002c0001t0006g0164 a0002c0001t0042g0158 a0014c0019t0001g0273 a0014c0019t0001g0274 a0028c0031t0001g0277	18	356	0.0506	20	c.514 others(37): Show c.5140-187_5140-168dupTGTGTGTGTGTGTGTGTGTG	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	34/41			chr14	TogoVar
ATG3_chr3_112527510_112566962	112530048	T T	TACACATT others(13): Show TACACATTGAGGGCTGCTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	20	c.26 others(31): Show c.2650_*2651insTACAGCAGCCCTCAATGTGT	ATG3	ENSG00000144848.11	transcript	ENST00000283290.10	protein_coding		2461		chr3	TogoVar
ATG4A_chrX_108086778_108159671	108141001	T T	TATATATA others(13): Show TATATATACGTATATATACAC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	249	0.0040	20	c.814 others(37): Show c.814+2818_814+2837dupCGTATATATACACATATATA	ATG4A	ENSG00000101844.18	transcript	ENST00000372232.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
ATG4B_chr2_241632693_241678857	241637872	G G	GGGGCGGT others(13): Show GGGGCGGTGTTGGTGGGTGGT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01071.hp1 HG02572.hp1 HG00741.hp1 HG01071.hp1 HG02572.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0351 a0002c0003t0014g0352 a0002c0003t0014g0353 a0002c0003t0014g0351 a0002c0003t0014g0352 a0002c0003t0014g0353	3	410	0.0073	20	c.10+ others(33): Show c.10+157_10+176dupTTGGTGGGTGGTGGGCGGTG	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATG4B_chr2_241632693_241678857	241642871	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19068.hp1 HG02155.hp2 NA19068.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0082 a0002c0003t0004g0083 a0002c0003t0004g0082 a0002c0003t0004g0083	2	410	0.0049	20	c.10+ others(35): Show c.10+5147_10+5148insTTTTTTTTTTTTTTTTTTTT	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12			chr2	TogoVar
ATG7_chr3_11267397_11562665	11268006	T T	TCTCTCTC others(13): Show TCTCTCTCTCTCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0136 a0001c0001t0030g0136	1	292	0.0034	20	c.-47 others(31): Show c.-4790_-4789insCTCTCTCTCTCACACACACA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding		4390		chr3	TogoVar
ATG7_chr3_11267397_11562665	11378027	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp2 HG02622.hp1 others(3): Show HG00741.hp1 HG01891.hp2 HG02622.hp1 HG02818.hp1 HG03471.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 a0001c0001 a0002c0003 a0002c0004	a0001c0001t0002 a0002c0003t0008 a0002c0003t0023 others(1): Show a0001c0001t0002 a0002c0003t0008 a0002c0003t0023 a0002c0004t0025	a0001c0001t0002g0206 a0002c0003t0008g0277 a0002c0003t0008g0279 others(3): Show a0001c0001t0002g0206 a0002c0003t0008g0277 a0002c0003t0008g0279 a0002c0003t0008g0280 a0002c0003t0023g0285 a0002c0004t0025g0292	6	292	0.0206	20	c.187 others(39): Show c.1876-1927_1876-1926insTTTTTTTTTTTTTTTTTTTT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11475868	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01256.hp1 HG02717.hp2 others(2): Show HG00609.hp2 HG01256.hp1 HG02717.hp2 HG03579.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0048	a0001c0001t0001g0090 a0001c0001t0002g0202 a0001c0001t0003g0108 others(2): Show a0001c0001t0001g0090 a0001c0001t0002g0202 a0001c0001t0003g0108 a0001c0001t0006g0182 a0001c0001t0048g0010	5	292	0.0171	20	c.207 others(41): Show c.2079+48963_2079+48982dupACACACACACACACACACAC	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11497357	C C	CTATATAT others(13): Show CTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01123.hp1 HG01516.hp2 others(1): Show HG00609.hp1 HG01123.hp1 HG01516.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0113 a0001c0001t0001g0131 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0113 a0001c0001t0001g0131 a0001c0001t0001g0234 a0001c0001t0005g0071	4	292	0.0137	20	c.208 others(41): Show c.2080-57438_2080-57419dupATATATATATATATATATAT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11497357	C C	CTATATAT others(13): Show CTATATATATATGTATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03195.hp1 HG03130.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0015 a0001c0001t0003 a0001c0002t0015	a0001c0001t0003g0255 a0001c0002t0015g0291 a0001c0001t0003g0255 a0001c0002t0015g0291	2	292	0.0069	20	c.208 others(41): Show c.2080-57443_2080-57442insGTATATATATATATATATAT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11497357	C C	CTATATAT others(13): Show CTATATATATATGTATATGTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19240.hp2 HG02055.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0266 a0001c0001t0004g0268 a0001c0001t0004g0266 a0001c0001t0004g0268	2	292	0.0069	20	c.208 others(41): Show c.2080-57443_2080-57442insGTATATGTATATATATATAT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11521181	C C	CTAGGCAG others(13): Show CTAGGCAGCCATTGGTTGCCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	292	0.0034	20	c.208 others(41): Show c.2080-33618_2080-33599dupTGGTTGCCATAGGCAGCCAT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATL1_chr14_50555145_50638045	50574935	G G	GTATATAT others(13): Show GTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	320	0.0031	20	c.35- others(37): Show c.35-12895_35-12894insATATATATATATATATATAT	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ATL1_chr14_50555145_50638045	50574937	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0031 a0001c0004t0001g0031	1	320	0.0031	20	c.35- others(37): Show c.35-12893_35-12892insGTGTATATATATATATATAT	ATL1	ENSG00000198513.14	transcript	ENST00000358385.12	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ATL2_chr2_38288954_38382273	38329423	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	236	0.0042	20	c.364 others(39): Show c.364-10424_364-10405dupTTTTTTTTTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03490.hp1 HG03704.hp2 others(1): Show HG02970.hp1 HG03490.hp1 HG03704.hp2 HG03831.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0011 a0001c0001 a0006c0011	a0001c0001t0002 a0001c0001t0004 a0006c0011t0002 a0001c0001t0002 a0001c0001t0004 a0006c0011t0002	a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0004g0060 others(1): Show a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0004g0060 a0006c0011t0002g0069	4	236	0.0170	20	c.363 others(37): Show c.363+5762_363+5781dupTTTTTTTTTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38365170	C C	CACACACA others(13): Show CACACACACACACACACAAAT	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0145 a0001c0001t0012g0145	1	236	0.0042	20	c.118 others(39): Show c.118+11972_118+11973insATTTGTGTGTGTGTGTGTGT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	1/12			chr2	TogoVar
ATL3_chr11_63619087_63676376	63657208	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18906.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0028 a0001c0001t0007g0029	2	242	0.0083	20	c.405 others(37): Show c.405+1552_405+1553insTTTTTTTTTTTTTTTTTTTT	ATL3	ENSG00000184743.13	transcript	ENST00000398868.8	protein_coding	3/12			chr11	TogoVar
ATM_chr11_108218067_108374102	108317615	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0002 a0007c0011t0002	a0007c0011t0002g0124 a0007c0011t0002g0124	1	304	0.0033	20	c.634 others(37): Show c.6347+113_6347+132dupTATATATATATATATATATA	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	43/62		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATM_chr11_108218067_108374102	108317652	T T	TATATATA others(13): Show TATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18939.hp2 NA18992.hp2 others(1): Show HG02602.hp1 NA18939.hp2 NA18992.hp2 NA19058.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0166 a0005c0006t0005g0170 a0005c0006t0005g0172 others(1): Show a0005c0006t0005g0166 a0005c0006t0005g0170 a0005c0006t0005g0172 a0005c0006t0005g0173	4	304	0.0132	20	c.634 others(37): Show c.6347+132_6347+133insTATATATACACACACACACA	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	43/62		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATM_chr11_108218067_108374102	108317652	T T	TATATATA others(13): Show TATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0197 a0001c0001t0011g0197	1	304	0.0033	20	c.634 others(37): Show c.6347+132_6347+133insTATATATATACACACACACA	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	43/62		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATM_chr11_108218067_108374102	108317652	T T	TATATATA others(13): Show TATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0154 a0001c0001t0011g0155 a0001c0001t0011g0154 a0001c0001t0011g0155	2	304	0.0066	20	c.634 others(37): Show c.6347+132_6347+133insTATATATATATACACACACA	ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	43/62		INFO_REALIGN_3_PRIME	chr11	TogoVar
ATOH1_chr4_93823753_93835964	93831405	C C	CCTCTCTC others(13): Show CCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00639.hp1 others(100): Show HG00423.hp2 HG00544.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02055.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02717.hp1 HG02809.hp1 HG03017.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG04204.hp1 NA18522.hp1 NA18939.hp1 NA18945.hp1 NA18948.hp1 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18998.hp2 NA19000.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp2 NA19085.hp1 NA19089.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0001t0019	a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 others(3): Show a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 a0001c0001t0008g0000 a0001c0001t0018g0000 a0001c0001t0019g0000	103	458	0.2249	20	c.14 others(31): Show c.1414_*1415insCTCTCTCTCTCTCTCTCTCT	ATOH1	ENSG00000172238.6	transcript	ENST00000306011.6	protein_coding		442		chr4	TogoVar
ATOSA_chr15_52576321_52684388	52583390	G G	GTCATTCA others(13): Show GTCATTCATTCATTCATTCAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18944.hp2 NA18948.hp2 others(1): Show HG02071.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0131 a0001c0003t0001g0136 a0001c0003t0001g0141 others(1): Show a0001c0003t0001g0131 a0001c0003t0001g0136 a0001c0003t0001g0141 a0001c0003t0001g0164	4	362	0.0111	20	c.307 others(39): Show c.3078-1103_3078-1084dupATGAATGAATGAATGAATGA	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	12/12			chr15	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)