Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG02622.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	2	334	0.0060	34	c.32 others(45): Show c.3298_*3299insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18980.hp2 NA18971.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0098 a0001c0001t0001g0077 a0001c0001t0001g0098	2	418	0.0048	34	c.39+ others(47): Show c.39+492_39+493insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP6V0A4_chr7_138701294_138803196	138705111	T T	TTATCACA others(27): Show TTATCACATATATCATATATGATATATATCTTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03579.hp1 HG03453.hp2 HG03579.hp1	a0002 a0003 a0002 a0003	a0002c0049 a0003c0031 a0002c0049 a0003c0031	a0002c0049t0006 a0003c0031t0006 a0002c0049t0006 a0003c0031t0006	a0002c0049t0006g0044 a0003c0031t0006g0344 a0002c0049t0006g0044 a0003c0031t0006g0344	2	376	0.0053	34	c.15 others(45): Show c.1512_*1513insCACAAGATATATATCATATATGATATATGTGATA	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding		1182		chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138737115	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG02280.hp2 HG02965.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0036 a0002c0002 a0003c0036	a0002c0002t0001 a0003c0036t0001 a0002c0002t0001 a0003c0036t0001	a0002c0002t0001g0360 a0003c0036t0001g0046 a0002c0002t0001g0360 a0003c0036t0001g0046	2	376	0.0053	34	c.157 others(53): Show c.1572+2424_1572+2425insATATATATATATATATATATATATAT ATATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	15/21			chr7	TogoVar
ATP6V0A4_chr7_138701294_138803196	138784255	T T	TATATATA others(27): Show TATATATATACATATATATATATACATATATATAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG02486.hp1 HG02896.hp2 HG02897.hp2 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0021 a0001c0001 a0001c0010 a0001c0021	a0001c0001t0002 a0001c0010t0002 a0001c0021t0001 a0001c0001t0002 a0001c0010t0002 a0001c0021t0001	a0001c0001t0002g0199 a0001c0010t0002g0197 a0001c0010t0002g0198 others(2): Show a0001c0001t0002g0199 a0001c0010t0002g0197 a0001c0010t0002g0198 a0001c0021t0001g0195 a0001c0021t0001g0196	5	376	0.0133	34	c.-18 others(51): Show c.-18+1902_-18+1903insGTATATATATGTATATATATATATGTAT ATATAT	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	2/21			chr7	TogoVar
ATP6V0D2_chr8_86093910_86159225	86126236	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	360	0.0028	34	c.302 others(53): Show c.302+12383_302+12384insATATATATATATATATATATATATAT ATATATAT	ATP6V0D2	ENSG00000147614.4	transcript	ENST00000285393.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP8B1_chr18_57641426_57808315	57672993	A A	ATATATAT others(27): Show ATATATATATATAAATATAAATATATAAATATATG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0230 a0001c0001t0009g0230	1	314	0.0032	34	c.182 others(53): Show c.1820-1414_1820-1413insCATATATTTATATATTTATATTTATA TATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672995	G G	GTATATAT others(27): Show GTATATATATAAATATAAATATATAAATATATGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(134): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02132.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG03098.hp1 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp2 HG03540.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19054.hp2 NA19057.hp2 NA19062.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0012	a0001c0001 a0001c0005 a0001c0012 others(3): Show a0001c0001 a0001c0005 a0001c0012 a0005c0007 a0008c0013 a0012c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0036 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0005t0016 a0001c0012t0035 a0005c0007t0030 a0008c0013t0017 a0012c0020t0012	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 others(134): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0251 a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0003g0194 a0001c0001t0003g0198 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0233 a0001c0001t0003g0236 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0244 a0001c0001t0003g0258 a0001c0001t0003g0261 a0001c0001t0003g0264 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0303 a0001c0001t0004g0022 a0001c0001t0004g0087 a0001c0001t0004g0138 a0001c0001t0005g0011 a0001c0001t0005g0017 a0001c0001t0005g0025 a0001c0001t0005g0029 a0001c0001t0005g0036 a0001c0001t0005g0039 a0001c0001t0005g0042 a0001c0001t0005g0046 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0068 a0001c0001t0005g0072 a0001c0001t0005g0085 a0001c0001t0005g0118 a0001c0001t0005g0127 a0001c0001t0005g0136 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0054 a0001c0001t0006g0057 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0090 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0106 a0001c0001t0007g0226 a0001c0001t0009g0199 a0001c0001t0009g0205 a0001c0001t0009g0215 a0001c0001t0009g0225 a0001c0001t0009g0235 a0001c0001t0009g0243 a0001c0001t0009g0246 a0001c0001t0009g0249 a0001c0001t0009g0259 a0001c0001t0009g0262 a0001c0001t0009g0286 a0001c0001t0009g0288 a0001c0001t0010g0151 a0001c0001t0010g0186 a0001c0001t0010g0188 a0001c0001t0011g0145 a0001c0001t0011g0147 a0001c0001t0011g0161 a0001c0001t0011g0174 a0001c0001t0011g0181 a0001c0001t0011g0184 a0001c0001t0011g0191 a0001c0001t0012g0160 a0001c0001t0012g0178 a0001c0001t0012g0180 a0001c0001t0012g0183 a0001c0001t0012g0189 a0001c0001t0013g0216 a0001c0001t0013g0223 a0001c0001t0013g0271 a0001c0001t0013g0272 a0001c0001t0015g0163 a0001c0001t0015g0166 a0001c0001t0015g0177 a0001c0001t0016g0021 a0001c0001t0016g0027 a0001c0001t0016g0040 a0001c0001t0017g0217 a0001c0001t0017g0222 a0001c0001t0017g0248 a0001c0001t0018g0296 a0001c0001t0018g0297 a0001c0001t0021g0001 a0001c0001t0021g0002 a0001c0001t0025g0313 a0001c0001t0026g0314 a0001c0001t0029g0092 a0001c0001t0036g0179 a0001c0001t0038g0190 a0001c0001t0043g0299 a0001c0001t0044g0197 a0001c0001t0048g0312 a0001c0005t0016g0056 a0001c0012t0035g0008 a0005c0007t0030g0007 a0008c0013t0017g0260 a0012c0020t0012g0173	137	314	0.4363	34	c.182 others(53): Show c.1820-1416_1820-1415insTACATATATTTATATATTTATATTTA TATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57672995	G G	GTATATAT others(27): Show GTATATATATAAATATACATATATAAATATATGTA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG01123.hp2 others(24): Show HG00733.hp1 HG00741.hp1 HG01123.hp2 HG01168.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG02109.hp2 HG02647.hp2 HG02738.hp2 HG02886.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03490.hp1 HG03669.hp2 HG03688.hp1 HG04184.hp2 HG04199.hp2 NA19087.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0004 a0004c0008 others(1): Show a0001c0001 a0004c0004 a0004c0008 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0004c0004t0034 a0004c0004t0046 a0004c0004t0047 a0004c0008t0004 a0006c0009t0033	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(24): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0061 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0003g0265 a0001c0001t0003g0269 a0001c0001t0003g0273 a0001c0001t0006g0045 a0001c0001t0006g0074 a0001c0001t0006g0082 a0001c0001t0010g0162 a0001c0001t0011g0159 a0001c0001t0013g0231 a0001c0001t0013g0268 a0001c0001t0013g0294 a0001c0001t0015g0187 a0004c0004t0034g0088 a0004c0004t0046g0291 a0004c0004t0047g0204 a0004c0008t0004g0004 a0006c0009t0033g0080	27	314	0.0860	34	c.182 others(53): Show c.1820-1416_1820-1415insTACATATATTTATATATGTATATTTA TATATATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	16/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57712048	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03831.hp2 HG02572.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0002 a0001c0019t0031 a0001c0001t0002 a0001c0019t0031	a0001c0001t0002g0290 a0001c0019t0031g0062 a0001c0001t0002g0290 a0001c0019t0031g0062	2	314	0.0064	34	c.182 others(51): Show c.182-5462_182-5461insATATATATATATATATATATATATATAT ATATAT	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	2/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57732233	G G	GTATATAT others(27): Show GTATATATGTGTATATATGTATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0304 a0001c0001t0028g0304	1	314	0.0032	34	c.-25 others(49): Show c.-25-402_-25-401insTATATACACATATATACATATATACACATA TATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B1_chr18_57641426_57808315	57732309	G G	GTATATAT others(27): Show GTATATATATGTGTATATATGTATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00423.hp1 others(52): Show HG00099.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG01074.hp1 HG01109.hp1 HG01123.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02897.hp1 HG03130.hp2 HG03195.hp2 NA18612.hp1 NA18942.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18968.hp2 NA18978.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19054.hp2 NA19057.hp2 NA19074.hp2 NA19079.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0025 a0001c0001t0036 a0001c0001t0043 a0001c0006t0001	a0001c0001t0001g0086 a0001c0001t0001g0112 a0001c0001t0001g0115 others(52): Show a0001c0001t0001g0086 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0002g0214 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0003g0211 a0001c0001t0003g0233 a0001c0001t0003g0277 a0001c0001t0003g0284 a0001c0001t0003g0287 a0001c0001t0004g0120 a0001c0001t0005g0017 a0001c0001t0005g0036 a0001c0001t0005g0046 a0001c0001t0005g0064 a0001c0001t0005g0065 a0001c0001t0005g0068 a0001c0001t0005g0072 a0001c0001t0005g0127 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0007g0196 a0001c0001t0008g0142 a0001c0001t0009g0199 a0001c0001t0009g0205 a0001c0001t0009g0215 a0001c0001t0009g0225 a0001c0001t0009g0230 a0001c0001t0009g0235 a0001c0001t0009g0243 a0001c0001t0009g0246 a0001c0001t0009g0253 a0001c0001t0009g0259 a0001c0001t0010g0186 a0001c0001t0010g0188 a0001c0001t0011g0161 a0001c0001t0012g0160 a0001c0001t0012g0180 a0001c0001t0012g0189 a0001c0001t0013g0231 a0001c0001t0013g0294 a0001c0001t0015g0187 a0001c0001t0017g0222 a0001c0001t0025g0313 a0001c0001t0036g0179 a0001c0001t0043g0299 a0001c0006t0001g0114	55	314	0.1752	34	c.-25 others(49): Show c.-25-478_-25-477insTATACACATATATACATATATACACATATA TATA	ATP8B1	ENSG00000081923.15	transcript	ENST00000648908.2	protein_coding	1/27			chr18	TogoVar
ATP8B4_chr15_49853238_50124233	50085864	G G	GTATCATA others(27): Show GTATCATAAATATTTATATATTTATATATGATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02602.hp2 HG02683.hp1 others(3): Show HG02109.hp1 HG02602.hp2 HG02683.hp1 HG03654.hp1 HG03704.hp1 HG04228.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0002 a0015c0015 a0001c0001 a0002c0002 a0015c0015	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0002c0002t0001 a0015c0015t0027	a0001c0001t0001g0238 a0001c0001t0006g0156 a0001c0001t0013g0102 others(3): Show a0001c0001t0001g0238 a0001c0001t0006g0156 a0001c0001t0013g0102 a0002c0002t0001g0151 a0002c0002t0001g0153 a0015c0015t0027g0154	6	254	0.0236	34	c.29- others(51): Show c.29-11680_29-11679insTATATCATATATAAATATATAAATATTT ATGATA	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP8B4_chr15_49853238_50124233	50086792	T T	TATAGAGA others(27): Show TATAGAGATCTATATTTATTATATATAATAAAATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18522.hp1 HG03516.hp1 NA18522.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0005 a0001c0001t0002 a0004c0004t0005	a0001c0001t0002g0005 a0004c0004t0005g0249 a0001c0001t0002g0005 a0004c0004t0005g0249	2	254	0.0079	34	c.29- others(51): Show c.29-12641_29-12608dupTATTTTATTATATATAATAAATATAGAT CTCTAT	ATP8B4	ENSG00000104043.15	transcript	ENST00000284509.11	protein_coding	2/27			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79071399	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	298	0.0034	34	c.119 others(51): Show c.119+1884_119+1885insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATRNL1_chr10_115088365_115953999	115381432	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0049 a0001c0003t0003g0049	1	128	0.0078	34	c.317 others(55): Show c.3176-13210_3176-13209insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	19/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115445813	G G	GTCTGTAT others(27): Show GTCTGTATGGATTTGTCTATTTTGTTATGTCCAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00735.hp1 others(124): Show HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0002c0004 a0002c0008 a0002c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0035 a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0048 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0014 a0001c0003t0015 a0001c0003t0031 a0001c0003t0037 a0001c0003t0038 a0001c0003t0039 a0001c0003t0041 a0001c0003t0045 a0001c0003t0047 a0001c0005t0007 a0001c0005t0018 a0001c0005t0021 a0001c0005t0032 a0001c0006t0009 a0001c0006t0013 a0001c0006t0033 a0001c0007t0027 a0001c0007t0030 a0001c0009t0005 a0001c0010t0006 a0001c0011t0002 a0001c0012t0001 a0001c0013t0009 a0001c0015t0034 a0001c0016t0003 a0002c0004t0002 a0002c0004t0006 a0002c0004t0007 a0002c0004t0012 a0002c0008t0011 a0002c0008t0044 a0002c0014t0009	a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0065 others(124): Show a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0123 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0003g0074 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0104 a0001c0001t0006g0100 a0001c0001t0006g0109 a0001c0001t0007g0027 a0001c0001t0008g0014 a0001c0001t0008g0023 a0001c0001t0008g0030 a0001c0001t0008g0079 a0001c0001t0008g0082 a0001c0001t0009g0122 a0001c0001t0010g0018 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0011g0112 a0001c0001t0011g0119 a0001c0001t0013g0019 a0001c0001t0014g0001 a0001c0001t0015g0064 a0001c0001t0016g0031 a0001c0001t0017g0028 a0001c0001t0019g0020 a0001c0001t0020g0115 a0001c0001t0022g0032 a0001c0001t0023g0022 a0001c0001t0024g0024 a0001c0001t0025g0021 a0001c0001t0026g0010 a0001c0001t0029g0075 a0001c0001t0035g0118 a0001c0001t0036g0117 a0001c0001t0042g0095 a0001c0001t0043g0094 a0001c0001t0046g0099 a0001c0001t0048g0107 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0103 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0004g0054 a0001c0002t0004g0056 a0001c0002t0004g0058 a0001c0002t0004g0067 a0001c0002t0004g0127 a0001c0002t0005g0037 a0001c0002t0005g0043 a0001c0002t0005g0044 a0001c0002t0005g0046 a0001c0002t0005g0053 a0001c0002t0005g0057 a0001c0002t0006g0062 a0001c0002t0006g0086 a0001c0002t0028g0076 a0001c0003t0001g0083 a0001c0003t0002g0081 a0001c0003t0003g0049 a0001c0003t0003g0060 a0001c0003t0004g0042 a0001c0003t0014g0089 a0001c0003t0015g0108 a0001c0003t0031g0016 a0001c0003t0037g0121 a0001c0003t0038g0106 a0001c0003t0039g0126 a0001c0003t0041g0047 a0001c0003t0045g0090 a0001c0003t0047g0128 a0001c0005t0007g0002 a0001c0005t0007g0004 a0001c0005t0007g0009 a0001c0005t0018g0003 a0001c0005t0021g0007 a0001c0005t0032g0005 a0001c0006t0009g0038 a0001c0006t0013g0029 a0001c0006t0033g0035 a0001c0007t0027g0006 a0001c0007t0030g0008 a0001c0009t0005g0059 a0001c0010t0006g0087 a0001c0011t0002g0116 a0001c0012t0001g0071 a0001c0013t0009g0078 a0001c0015t0034g0110 a0001c0016t0003g0097 a0002c0004t0002g0012 a0002c0004t0002g0013 a0002c0004t0006g0084 a0002c0004t0007g0011 a0002c0004t0012g0025 a0002c0004t0012g0026 a0002c0008t0011g0073 a0002c0008t0044g0063 a0002c0014t0009g0072	127	128	0.9922	34	c.332 others(55): Show c.3323-16105_3323-16104insTTATGTCCAAATCTGTATGGATTT GTCTATTTTG	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRNL1_chr10_115088365_115953999	115621276	T T	TATATATA others(27): Show TATATATATATATATATAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0115 a0001c0001t0020g0115	1	128	0.0078	34	c.379 others(55): Show c.3795+71741_3795+71742insTATATATATATATATAGAGAGAGA GAGAGAGAGA	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3597071	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp2 NA18612.hp2 HG02922.hp1 HG02976.hp2 NA18612.hp2	a0001 a0014 a0001 a0014	a0001c0002 a0014c0026 a0001c0002 a0014c0026	a0001c0002t0008 a0014c0026t0001 a0001c0002t0008 a0014c0026t0001	a0001c0002t0008g0131 a0001c0002t0008g0132 a0014c0026t0001g0032 a0001c0002t0008g0131 a0001c0002t0008g0132 a0014c0026t0001g0032	3	220	0.0136	34	c.346 others(51): Show c.3469+645_3469+646insTATATATATATATATATATATATATATA TAAATA	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	21/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATRX_chrX_77499880_77791216	77790990	C C	CTATAAAT others(27): Show CTATAAATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG01167.hp1 HG02615.hp2 others(5): Show HG00558.hp1 HG01167.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG03225.hp1 HG03490.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0007 others(1): Show a0001c0001 a0001c0005 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0005t0005 a0001c0007t0005 a0002c0002t0001	a0001c0001t0002g0158 a0001c0001t0002g0178 a0001c0001t0003g0137 others(5): Show a0001c0001t0002g0158 a0001c0001t0002g0178 a0001c0001t0003g0137 a0001c0001t0004g0186 a0001c0001t0005g0074 a0001c0005t0005g0081 a0001c0007t0005g0079 a0002c0002t0001g0026	8	218	0.0367	34	c.-49 others(45): Show c.-4990_-4989insTATATATATATATATATATATATATATATTTATA	ATRX	ENSG00000085224.23	transcript	ENST00000373344.11	protein_coding		4775		chrX	TogoVar
ATXN1_chr6_16294112_16766460	16606867	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02155.hp1 HG02735.hp1 others(2): Show HG02132.hp2 HG02155.hp1 HG02735.hp1 NA18942.hp1 NA19062.hp1	a0004 a0008 a0011 others(1): Show a0004 a0008 a0011 a0020	a0004c0005 a0008c0024 a0011c0007 others(1): Show a0004c0005 a0008c0024 a0011c0007 a0020c0020	a0004c0005t0008 a0008c0024t0001 a0011c0007t0002 others(2): Show a0004c0005t0008 a0008c0024t0001 a0011c0007t0002 a0020c0020t0026 a0020c0020t0032	a0004c0005t0008g0068 a0008c0024t0001g0143 a0011c0007t0002g0162 others(2): Show a0004c0005t0008g0068 a0008c0024t0001g0143 a0011c0007t0002g0162 a0020c0020t0026g0088 a0020c0020t0032g0099	5	182	0.0275	34	c.-48 others(55): Show c.-488-20961_-488-20960insCACACACACACACACACACACACA CACACACACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	3/7			chr6	TogoVar
ATXN1_chr6_16294112_16766460	16730487	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03927.hp1 HG03492.hp2 HG03927.hp1	a0012 a0017 a0012 a0017	a0012c0011 a0017c0040 a0012c0011 a0017c0040	a0012c0011t0004 a0017c0040t0007 a0012c0011t0004 a0017c0040t0007	a0012c0011t0004g0050 a0017c0040t0007g0022 a0012c0011t0004g0050 a0017c0040t0007g0022	2	182	0.0110	34	c.-61 others(55): Show c.-615+22745_-615+22746insTATATATATATATATATATATATA TATATATACA	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	2/7			chr6	TogoVar
ATXN7L1_chr7_105599772_105881599	105664575	G G	GTGTGTAT others(27): Show GTGTGTATGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0068 a0001c0001t0034g0068	1	252	0.0040	34	c.578 others(49): Show c.578+490_578+491insTATATATATATATATATATATATACACATA CACA	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	4/11			chr7	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(27): Show TATATATATATATATATATATACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	428	0.0023	34	c.-41 others(45): Show c.-4104_-4103insGTGTGTGTGTGTGTATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(27): Show TATATATATATATATATATATATACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02451.hp1 HG02559.hp1 others(6): Show HG01106.hp2 HG02451.hp1 HG02559.hp1 HG02970.hp1 HG03017.hp2 HG03516.hp2 HG03540.hp1 HG06807.hp1 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0015 others(6): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0067 a0001c0001t0001g0083 a0002c0002t0001g0014 a0002c0002t0001g0069	9	428	0.0210	34	c.-41 others(45): Show c.-4104_-4103insGTGTGTGTGTGTATATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(27): Show TATATATATATATATATATATATATACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01516.hp2 HG01517.hp1 others(7): Show HG00140.hp2 HG01516.hp2 HG01517.hp1 HG02258.hp2 HG02300.hp2 HG02630.hp2 HG03130.hp2 HG04228.hp1 NA18956.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0015 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0075	10	428	0.0234	34	c.-41 others(45): Show c.-4104_-4103insGTGTGTGTGTATATATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG03492.hp1 NA18950.hp1 HG02735.hp2 HG03492.hp1 NA18950.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0005 a0001c0003 a0004c0005	a0001c0003t0001 a0004c0005t0001 a0001c0003t0001 a0004c0005t0001	a0001c0003t0001g0006 a0004c0005t0001g0056 a0004c0005t0001g0059 a0001c0003t0001g0006 a0004c0005t0001g0056 a0004c0005t0001g0059	3	428	0.0070	34	c.-41 others(45): Show c.-4104_-4103insGTGTATATATATATATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKB_chr17_8199734_8215575	8214607	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02004.hp2 NA18947.hp1 HG00741.hp2 HG02004.hp2 NA18947.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0006 a0001c0003t0001g0031 a0002c0002t0001g0022 a0001c0003t0001g0006 a0001c0003t0001g0031 a0002c0002t0001g0022	3	428	0.0070	34	c.-41 others(45): Show c.-4104_-4103insGTATATATATATATATATATATATATATATATAT	AURKB	ENSG00000178999.13	transcript	ENST00000585124.6	protein_coding		4033		chr17	TogoVar
AURKC_chr19_57226023_57240548	57239587	T T	TAGAGAGA others(27): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02572.hp2 NA19030.hp1 HG02135.hp1 HG02572.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0001 a0001c0001t0001g0023	3	410	0.0073	34	c.41 others(45): Show c.4170_*4171insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	AURKC	ENSG00000105146.14	transcript	ENST00000302804.12	protein_coding		4040		chr19	TogoVar
AUTS2_chr7_69593475_70798506	70003832	A A	AATATATG others(27): Show AATATATGAATGTGTTATATATGAATATATATATT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	76	0.0132	34	c.522 others(55): Show c.522+104367_522+104368insTATATATGAATGTGTTATATATGA ATATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003866	A A	AATATATG others(27): Show AATATATGAATGTGTTATATATGAATATATATATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG01243.hp1 others(11): Show HG00099.hp1 HG00280.hp2 HG01243.hp1 HG01433.hp2 HG01952.hp1 HG02257.hp1 HG02886.hp1 HG03139.hp1 HG03239.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp2 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0021 a0001c0001t0025 a0001c0008t0017	a0001c0001t0001g0058 a0001c0001t0002g0047 a0001c0001t0002g0049 others(11): Show a0001c0001t0001g0058 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0062 a0001c0001t0003g0066 a0001c0001t0004g0048 a0001c0001t0004g0056 a0001c0001t0005g0028 a0001c0001t0007g0055 a0001c0001t0008g0063 a0001c0001t0010g0064 a0001c0001t0021g0060 a0001c0001t0025g0050 a0001c0008t0017g0046	14	76	0.1842	34	c.522 others(55): Show c.522+104524_522+104557dupATGAATATATATATTATATATGAA TGTGTTATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70003954	A A	ATGAATAT others(27): Show ATGAATATATATAATATATATGAATGTGTTATATG	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19030.hp2 NA19240.hp2 HG02257.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0004t0012 a0001c0004t0013 a0001c0001t0006 a0001c0004t0012 a0001c0004t0013	a0001c0001t0006g0010 a0001c0004t0012g0024 a0001c0004t0013g0025 a0001c0001t0006g0010 a0001c0004t0012g0024 a0001c0004t0013g0025	3	76	0.0395	34	c.522 others(55): Show c.522+104468_522+104469insATATATATGAATGTGTTATATGTG AATATATATA	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70004170	A A	AATATGAA others(27): Show AATATGAATGTGTTATATGTGAATATATATATTAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG03041.hp2 others(1): Show HG00280.hp1 HG00597.hp1 HG03041.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0001t0001 a0001c0001t0003 a0001c0001t0018	a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0071 a0001c0001t0003g0068 a0001c0001t0018g0003	4	76	0.0526	34	c.522 others(55): Show c.522+104701_522+104702insATTATATATGAATGTGTTATATGT GAATATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AUTS2_chr7_69593475_70798506	70004170	A A	AATATGAA others(27): Show AATATGAATGTGTTATATGTGAATATATATTATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0060 a0001c0001t0021g0060	1	76	0.0132	34	c.522 others(55): Show c.522+104734_522+104767dupATTATATATATGAATGTGTTATAT GTGAATATAT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVEN_chr15_33861227_34044204	33899460	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0183 a0001c0001t0004g0183	1	266	0.0038	34	c.446 others(53): Show c.446-23466_446-23465insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	AVEN	ENSG00000169857.9	transcript	ENST00000306730.8	protein_coding	2/5			chr15	TogoVar
AVL9_chr7_32490489_32593726	32503367	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0275 a0001c0001t0034g0275	1	330	0.0030	34	c.93+ others(49): Show c.93+7566_93+7567insCACACACACACACACACACACACACACACA CACA	AVL9	ENSG00000105778.20	transcript	ENST00000318709.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678880	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01891.hp2 HG00621.hp2 HG01891.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0215 a0002c0002t0002g0093 a0001c0001t0001g0215 a0002c0002t0002g0093	2	446	0.0045	34	c.287 others(49): Show c.287+705_287+738dupACACACACACACACACACACACACACACAC ACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AXIN1_chr16_282440_357723	285937	C C	CCCCGCGG others(27): Show CCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0194 a0001c0003t0027g0194	1	378	0.0027	34	c.21 others(45): Show c.2184_*2185insAGAACCGCGGGGTTGGGGTTGGGAGAACCGCGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1502		chr16	TogoVar
AXIN1_chr16_282440_357723	286073	G G	GTCCCTCC others(27): Show GTCCCTCCCCCCCCACCAAACCCCACCCGAGTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	378	0.0027	34	c.20 others(45): Show c.2048_*2049insGAAACTCGGGTGGGGTTTGGTGGGGGGGGAGGGA	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1366		chr16	TogoVar
AXIN1_chr16_282440_357723	326394	T T	TATATATA others(27): Show TATATATATATATACATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0181 a0001c0004t0023g0181	1	378	0.0027	34	c.879 others(53): Show c.879-11712_879-11711insGTGTGTATATATATATATATGTATAT ATATATAT	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
AXIN1_chr16_282440_357723	326394	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0183 a0001c0003t0003g0183	1	378	0.0027	34	c.879 others(53): Show c.879-11712_879-11711insGTGTGTATATATATATATATATATAT ATATATAT	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding	2/10			chr16	TogoVar
B3GALT1_chr2_167288001_167879045	167876003	G G	GTATATAT others(27): Show GTATATATATATACGTATATATATATATATACGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	118	0.0085	34	c.59 others(45): Show c.5983_*5984insTATATATATATACGTATATATATATATATACGTA	B3GALT1	ENSG00000172318.6	transcript	ENST00000392690.4	protein_coding		1959		chr2	TogoVar
B3GALT5_chr21_39607940_39678137	39639446	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTTTTTCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01192.hp2 HG01071.hp1 HG01192.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0117 a0002c0002t0024 a0001c0001t0117 a0002c0002t0024	a0001c0001t0117g0066 a0002c0002t0024g0227 a0001c0001t0117g0066 a0002c0002t0024g0227	2	336	0.0060	34	c.-39 others(53): Show c.-391-6937_-391-6936insCTTTTTTTCTTTCTCTCTCTCTCTCT CTTTCTTT	B3GALT5	ENSG00000183778.19	transcript	ENST00000684187.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr21	TogoVar
B3GAT1_chr11_134373508_134417242	134392189	T T	TCCGTGGA others(27): Show TCCGTGGAACTGAGTCCTGACTTAAGGGCCAGCAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG01891.hp2 others(19): Show HG01074.hp2 HG01243.hp1 HG01891.hp2 HG02055.hp1 HG02258.hp1 HG02280.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp1 HG02965.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 NA18522.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0004 a0001c0001t0044 a0001c0001t0047 others(6): Show a0001c0001t0004 a0001c0001t0044 a0001c0001t0047 a0001c0003t0004 a0001c0003t0048 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0016	a0001c0001t0004g0248 a0001c0001t0044g0057 a0001c0001t0047g0247 others(19): Show a0001c0001t0004g0248 a0001c0001t0044g0057 a0001c0001t0047g0247 a0001c0003t0004g0249 a0001c0003t0004g0250 a0001c0003t0004g0251 a0001c0003t0004g0267 a0001c0003t0048g0268 a0002c0002t0001g0082 a0002c0002t0001g0190 a0002c0002t0001g0194 a0002c0002t0001g0219 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0234 a0002c0002t0002g0334 a0002c0002t0006g0050 a0002c0002t0006g0051 a0002c0002t0016g0018	22	352	0.0625	34	c.-28 others(53): Show c.-281-4283_-281-4250dupGTGCTGGCCCTTAAGTCAGGACTCAG TTCCACGG	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT3_chr11_62610296_62626986	62619724	T T	TTTTTTTT others(27): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	290	0.0035	34	c.257 others(49): Show c.257+772_257+773insCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	B3GAT3	ENSG00000149541.10	transcript	ENST00000265471.10	protein_coding	2/4			chr11	TogoVar
B3GLCT_chr13_31194975_31337276	31196186	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG02056.hp2 others(2): Show HG00738.hp1 HG01123.hp2 HG02056.hp2 HG02735.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0002c0002t0003 a0001c0001t0001 a0001c0001t0007 a0002c0002t0003	a0001c0001t0001g0024 a0001c0001t0001g0168 a0001c0001t0007g0016 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0168 a0001c0001t0007g0016 a0001c0001t0007g0027 a0002c0002t0003g0012	5	268	0.0187	34	c.-38 others(45): Show c.-3899_-3898insATATATATATATATATATATATATATATATATAT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3788		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0023 a0002c0007t0023	a0002c0007t0023g0004 a0002c0007t0023g0004	1	268	0.0037	34	c.-38 others(45): Show c.-3878_-3877insTATATATATATATATATATATATATATATATTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp2 NA18953.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0061 a0001c0001t0004g0038 a0001c0001t0004g0061	2	268	0.0075	34	c.-38 others(45): Show c.-3878_-3877insTATATATATATATATATATATATATATTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp2 NA19082.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0002 a0001c0001t0010 a0002c0002t0002	a0001c0001t0010g0114 a0002c0002t0002g0140 a0001c0001t0010g0114 a0002c0002t0002g0140	2	268	0.0075	34	c.-38 others(45): Show c.-3878_-3877insTATATATATATATATATATATATATTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar
B3GLCT_chr13_31194975_31337276	31196207	A A	ATATATAT others(27): Show ATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0135 a0002c0002t0002g0135	1	268	0.0037	34	c.-38 others(45): Show c.-3878_-3877insTATATATATATATATATATATATTTTTTTTTTTT	B3GLCT	ENSG00000187676.8	transcript	ENST00000343307.5	protein_coding		3767		chr13	TogoVar

Search by Variant

Search

Search Results (Total: 7994 hits)