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
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18943.hp2 NA18952.hp1 others(2): Show NA18942.hp1 NA18943.hp2 NA18952.hp1 NA18974.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0338 others(2): Show a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0338 a0001c0001t0002g0354 a0001c0001t0002g0360	5	370	0.0135	13	c.317 others(30): Show c.3171+229_3171+230insAAAAAAAAAAATA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19011.hp2 HG00609.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0109 a0001c0001t0002g0019 a0001c0001t0002g0109	2	370	0.0054	13	c.317 others(30): Show c.3171+229_3171+230insAAAAAAAAATATA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657190	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0248 a0003c0003t0001g0248	1	370	0.0027	13	c.317 others(30): Show c.3171+254_3171+255insATATATATTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1B1_chr22_29322680_29393570	29370466	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0035 a0001c0003t0002g0035	1	378	0.0027	13	c.-27 others(30): Show c.-27-3197_-27-3196insCTTTCTTTCTTTT	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	1/22			chr22	TogoVar
AP1G1_chr16_71724000_71813834	71736098	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG01258.hp2 others(16): Show HG00609.hp1 HG00621.hp2 HG01258.hp2 HG01358.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02630.hp1 HG02735.hp2 NA18952.hp1 NA19003.hp1 NA19004.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0013	a0001c0001t0002g0198 a0001c0001t0002g0210 a0001c0001t0002g0215 others(16): Show a0001c0001t0002g0198 a0001c0001t0002g0210 a0001c0001t0002g0215 a0001c0001t0002g0220 a0001c0001t0002g0269 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0309 a0001c0001t0003g0209 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0227 a0001c0001t0003g0254 a0001c0001t0011g0222 a0001c0001t0011g0246 a0001c0001t0011g0247 a0001c0001t0013g0288 a0001c0001t0013g0289	19	320	0.0594	13	c.226 others(32): Show c.2269-1404_2269-1392dupTTTTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71736117	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA21309.hp2 HG02132.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0306 a0001c0001t0011g0256 a0001c0001t0002g0306 a0001c0001t0011g0256	2	320	0.0063	13	c.226 others(32): Show c.2269-1411_2269-1410insATTTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71736117	A A	AAAAAAAA others(6): Show AAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0294 a0001c0001t0002g0239 a0001c0001t0002g0294	2	320	0.0063	13	c.226 others(32): Show c.2269-1411_2269-1410insATATTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71768500	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0061 a0001c0001t0004g0061	1	320	0.0031	13	c.642 others(30): Show c.642+1110_642+1122dupTTTTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	6/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71794835	C C	CTTTTCTT others(6): Show CTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0184 a0001c0003t0008g0184	1	320	0.0031	13	c.-3- others(28): Show c.-3-5354_-3-5353insAAAAAAAAGAAAA	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	1/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71794835	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02602.hp2 NA18984.hp1 HG02074.hp2 HG02602.hp2 NA18984.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0006 a0001c0001 a0002c0002 a0005c0006	a0001c0001t0005 a0002c0002t0001 a0005c0006t0001 a0001c0001t0005 a0002c0002t0001 a0005c0006t0001	a0001c0001t0005g0050 a0002c0002t0001g0167 a0005c0006t0001g0132 a0001c0001t0005g0050 a0002c0002t0001g0167 a0005c0006t0001g0132	3	320	0.0094	13	c.-3- others(28): Show c.-3-5366_-3-5354dupAAAAAAAAAAAAA	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	1/22			chr16	TogoVar
AP1M1_chr19_16192911_16250906	16215194	C C	CAGGGGCG others(6): Show CAGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18983.hp1 HG02895.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0129 a0001c0001t0037 a0001c0001t0129	a0001c0001t0037g0233 a0001c0001t0129g0232 a0001c0001t0037g0233 a0001c0001t0129g0232	2	308	0.0065	13	c.546 others(30): Show c.546+6017_546+6018insAGGGGCGGGGGGG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11			chr19	TogoVar
AP1M1_chr19_16192911_16250906	16215216	G G	GGGGGGGG others(6): Show GGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0234 a0001c0001t0037g0234	1	308	0.0033	13	c.546 others(30): Show c.546+6043_546+6044insGGGGGGGGAGGGG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01975.hp1 others(4): Show HG01167.hp1 HG01169.hp2 HG01975.hp1 HG02145.hp1 NA18948.hp1 NA18986.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0260 a0001c0002t0002g0001 a0001c0002t0002g0008 others(3): Show a0001c0002t0001g0260 a0001c0002t0002g0001 a0001c0002t0002g0008 a0001c0002t0002g0088 a0001c0002t0002g0090 a0001c0002t0002g0121	7	394	0.0178	13	c.25 others(24): Show c.2518_*2519insTTTTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP1S2_chrX_15820806_15859813	15834439	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	318	0.0031	13	c.427 others(30): Show c.427-6240_427-6239insATATATATATATA	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP1S2_chrX_15820806_15859813	15834479	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02083.hp1 HG02683.hp2 others(6): Show HG01070.hp1 HG02083.hp1 HG02683.hp2 HG02738.hp1 HG03225.hp1 NA18941.hp1 NA18980.hp2 NA19089.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0009 a0001c0001t0001g0143 a0001c0001t0001g0161 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0004g0155 a0001c0001t0004g0178	9	318	0.0283	13	c.427 others(30): Show c.427-6280_427-6279insTATATATATATAT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP1S3_chr2_223750326_223842582	223756453	G G	GAAAGAAA others(6): Show GAAAGAAAGAAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(114): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 NA18612.hp1 NA18612.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0045 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0059 a0001c0001t0060 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0002c0002t0002 a0005c0005t0046	a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 others(114): Show a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0109 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0002g0189 a0001c0001t0002g0196 a0001c0001t0002g0209 a0001c0001t0002g0226 a0001c0001t0002g0229 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0263 a0001c0001t0002g0273 a0001c0001t0002g0294 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0330 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0052 a0001c0001t0003g0056 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0071 a0001c0001t0003g0075 a0001c0001t0003g0092 a0001c0001t0003g0184 a0001c0001t0003g0198 a0001c0001t0003g0224 a0001c0001t0003g0270 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0287 a0001c0001t0003g0312 a0001c0001t0008g0176 a0001c0001t0008g0187 a0001c0001t0008g0188 a0001c0001t0008g0223 a0001c0001t0008g0230 a0001c0001t0008g0233 a0001c0001t0008g0243 a0001c0001t0011g0022 a0001c0001t0011g0036 a0001c0001t0011g0200 a0001c0001t0011g0214 a0001c0001t0011g0228 a0001c0001t0011g0238 a0001c0001t0015g0069 a0001c0001t0015g0095 a0001c0001t0015g0186 a0001c0001t0015g0217 a0001c0001t0016g0045 a0001c0001t0016g0047 a0001c0001t0016g0089 a0001c0001t0016g0288 a0001c0001t0017g0096 a0001c0001t0017g0185 a0001c0001t0017g0210 a0001c0001t0017g0212 a0001c0001t0027g0332 a0001c0001t0027g0335 a0001c0001t0028g0117 a0001c0001t0028g0178 a0001c0001t0033g0093 a0001c0001t0045g0227 a0001c0001t0051g0256 a0001c0001t0052g0254 a0001c0001t0053g0321 a0001c0001t0059g0082 a0001c0001t0060g0190 a0001c0001t0069g0059 a0001c0001t0071g0338 a0001c0001t0072g0339 a0002c0002t0002g0171 a0002c0002t0002g0291 a0002c0002t0002g0292 a0005c0005t0046g0065	117	340	0.3441	13	c.22 others(24): Show c.2249_*2261dupTCTTTCTTTCTTT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	5/5	2261		chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780397	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	340	0.0029	13	c.4-2 others(26): Show c.4-2529_4-2528insCACACACACACAC	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02083.hp2 HG02132.hp2 others(3): Show HG00544.hp2 HG02083.hp2 HG02132.hp2 HG02896.hp1 NA18945.hp1 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0209 a0001c0002t0002g0247 a0001c0003t0002g0196 others(3): Show a0001c0002t0002g0209 a0001c0002t0002g0247 a0001c0003t0002g0196 a0001c0003t0002g0208 a0001c0003t0002g0216 a0001c0003t0002g0222	6	268	0.0224	13	c.67+ others(28): Show c.67+9525_67+9537dupTTTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2B1_chr17_35582322_35731413	35720573	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	372	0.0027	13	c.278 others(32): Show c.2782-3051_2782-3050insATATATATATATT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720573	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0151 a0001c0001t0005g0151	1	372	0.0027	13	c.278 others(32): Show c.2782-3051_2782-3050insATATATATTTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720574	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	372	0.0027	13	c.278 others(32): Show c.2782-3051_2782-3050insATATATATATATA	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21			chr17	TogoVar
AP2S1_chr19_46833167_46855846	46839286	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	424	0.0024	13	c.267 others(28): Show c.267+166_267+178dupTTTTTTTTTTTTT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding	3/4			chr19	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	226	0.0044	13	c.787 others(32): Show c.787-12109_787-12108insAAAAAAATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78223027	C C	CTCTTTTT others(6): Show CTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	226	0.0044	13	c.603 others(30): Show c.603+2514_603+2515insAAAAAAAAAAAGA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	6/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78284374	G G	GGTTATTC others(6): Show GGTTATTCTATTAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0045 a0002c0003t0001g0045	1	226	0.0044	13	c.128 others(32): Show c.128+10077_128+10078insATAATAGAATAAC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	1/26			chr5	TogoVar
AP3B2_chr15_82654281_82714875	82700397	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01975.hp2 NA18612.hp2 others(6): Show HG01069.hp1 HG01975.hp2 NA18612.hp2 NA18941.hp2 NA18955.hp1 NA18982.hp2 NA19004.hp2 NA19070.hp1 NA19083.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0006c0012t0001 a0001c0001t0001 a0006c0012t0001	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 others(6): Show a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0150 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0333 a0006c0012t0001g0138	9	368	0.0245	13	c.113 others(30): Show c.113+9184_113+9196dupAAAAAAAAAAAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP3M2_chr8_42148063_42176183	42166591	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00609.hp2 others(24): Show HG00423.hp2 HG00544.hp1 HG00609.hp2 HG00673.hp1 HG01361.hp2 HG01975.hp2 HG02027.hp1 HG02040.hp2 HG02132.hp1 HG02135.hp2 HG02738.hp1 HG03017.hp2 HG03471.hp1 HG03579.hp2 HG03831.hp1 HG03927.hp1 NA18940.hp1 NA18959.hp1 NA18973.hp2 NA18978.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19067.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016	a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0100 others(10): Show a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0140 a0001c0001t0005g0035 a0001c0001t0005g0037 a0001c0001t0005g0059 a0001c0001t0005g0092 a0001c0001t0009g0048 a0001c0001t0016g0008	27	392	0.0689	13	c.804 others(28): Show c.804-566_804-554dupAAAAAAAAAAAAA	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
AP3S1_chr5_115836935_115919081	115845836	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0229	1	378	0.0027	13	c.69+ others(28): Show c.69+3756_69+3768dupAAAAAAAAAAAAA	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAGA others(6): Show GAGAGAGAGAAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	312	0.0032	13	c.345 others(32): Show c.345+12951_345+12952insTTCTTCTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4B1_chr1_113889194_113909799	113907204	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 NA18972.hp1 HG03927.hp1 NA18972.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0003 a0002c0002t0003g0012 a0002c0002t0002g0003 a0002c0002t0003g0012	2	434	0.0046	13	c.-25 others(24): Show c.-2500_-2488dupAAAAAAAAAAAAA	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		2406		chr1	TogoVar
AP4M1_chr7_100096643_100114039	100099418	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG02165.hp2 HG02698.hp1 others(4): Show HG00738.hp1 HG02165.hp2 HG02698.hp1 HG03710.hp2 HG04228.hp2 NA18747.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0019 a0001c0001t0003g0020 others(1): Show a0001c0001t0003g0010 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0070	7	416	0.0168	13	c.-22 others(24): Show c.-2297_-2296insAAAAAAAAAAAAA	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding		2224		chr7	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	346	0.0029	13	c.-71 others(32): Show c.-71-16697_-71-16696insAAAAAAATATATA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	346	0.0029	13	c.-71 others(32): Show c.-71-16698_-71-16697insTATATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5			chr14	TogoVar
AP4S1_chr14_31020649_31101450	31083496	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp1 HG03209.hp2 others(1): Show HG02055.hp2 HG02647.hp1 HG03209.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0006 a0001c0001t0015	a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0327 others(1): Show a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0327 a0001c0001t0015g0263	4	346	0.0116	13	c.306 others(30): Show c.306+2926_306+2938dupTTTTTTTTTTTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31096689	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0243 a0001c0001t0029g0243	1	346	0.0029	13	c.36 others(24): Show c.3654_*3655insTATATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding		240		chr14	TogoVar
AP5S1_chr20_3815547_3833838	3816995	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0015 a0001c0001t0031g0015	1	412	0.0024	13	c.-37 others(24): Show c.-3780_-3779insTTTTTTTTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		3551		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831679	A A	ATATATAT others(6): Show ATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	412	0.0024	13	c.73 others(24): Show c.7382_*7383insTATATATATATTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2842		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3832236	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	412	0.0024	13	c.79 others(24): Show c.7939_*7940insAAAAAAAAAAAAA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		3399		chr20	TogoVar
APAF1_chr12_98640290_98740433	98653689	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG02135.hp1 others(4): Show HG00280.hp1 HG00733.hp1 HG02135.hp1 HG02258.hp1 HG02896.hp2 HG03453.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0108 others(4): Show a0001c0001t0001g0081 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0236 a0001c0001t0001g0272 a0001c0001t0005g0082 a0001c0001t0005g0115	7	366	0.0191	13	c.526 others(30): Show c.526+4005_526+4006insTATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AAATATAT others(6): Show AAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19012.hp1 HG02129.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0111 a0001c0001t0001g0113	2	366	0.0055	13	c.526 others(30): Show c.526+4008_526+4009insATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19056.hp2 HG02922.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0206 a0001c0001t0001g0057 a0001c0001t0001g0206	2	366	0.0055	13	c.526 others(30): Show c.526+4007_526+4008insTATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APBA1_chr9_69422532_69677371	69600806	T T	TAAATAAA others(6): Show TAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp1 HG03195.hp1 others(2): Show HG02809.hp1 HG02976.hp1 HG03195.hp1 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 others(2): Show a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0008g0073	5	210	0.0238	13	c.-70 others(32): Show c.-70+71346_-70+71347insTATTTATTTATTT	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658304	C C	CTCTCTTC others(6): Show CTCTCTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0070 a0001c0001t0008g0070	1	210	0.0048	13	c.-70 others(32): Show c.-70+13848_-70+13849insAAGAAAGAAGAGA	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA1_chr9_69422532_69677371	69658308	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0081 a0002c0002t0002g0081	1	210	0.0048	13	c.-70 others(32): Show c.-70+13844_-70+13845insGAGAGAGAGAGAG	APBA1	ENSG00000107282.9	transcript	ENST00000265381.7	protein_coding	1/12			chr9	TogoVar
APBA2_chr15_28880974_29123315	29052454	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00597.hp2 others(68): Show HG00323.hp2 HG00408.hp1 HG00597.hp2 HG00738.hp2 HG01071.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA18953.hp2 NA18971.hp1 NA18986.hp2 NA19002.hp1 NA19030.hp1 NA19060.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0007 a0002c0002 others(7): Show a0001c0001 a0001c0007 a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0012 a0004c0015 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0007t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0015 a0002c0002t0019 a0002c0002t0020 a0002c0002t0023 a0002c0002t0032 a0002c0002t0041 a0002c0002t0043 a0002c0002t0045 a0002c0003t0006 a0002c0003t0012 a0002c0003t0018 a0002c0004t0004 a0002c0004t0009 a0002c0005t0001 a0002c0005t0004 a0002c0006t0016 a0002c0006t0017 a0002c0012t0010 a0004c0015t0006 a0005c0010t0037	a0001c0001t0001g0005 a0001c0001t0002g0116 a0001c0001t0002g0117 others(68): Show a0001c0001t0001g0005 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0003g0164 a0001c0001t0005g0009 a0001c0001t0008g0163 a0001c0007t0004g0043 a0002c0002t0001g0050 a0002c0002t0001g0076 a0002c0002t0002g0095 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0165 a0002c0002t0003g0101 a0002c0002t0003g0143 a0002c0002t0003g0167 a0002c0002t0003g0172 a0002c0002t0003g0174 a0002c0002t0003g0182 a0002c0002t0003g0193 a0002c0002t0003g0204 a0002c0002t0004g0013 a0002c0002t0004g0025 a0002c0002t0004g0089 a0002c0002t0005g0012 a0002c0002t0005g0026 a0002c0002t0006g0093 a0002c0002t0006g0098 a0002c0002t0006g0108 a0002c0002t0006g0178 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0007g0115 a0002c0002t0007g0137 a0002c0002t0007g0140 a0002c0002t0008g0192 a0002c0002t0008g0201 a0002c0002t0008g0202 a0002c0002t0009g0176 a0002c0002t0010g0072 a0002c0002t0010g0073 a0002c0002t0010g0074 a0002c0002t0011g0102 a0002c0002t0011g0110 a0002c0002t0011g0123 a0002c0002t0015g0084 a0002c0002t0015g0091 a0002c0002t0019g0132 a0002c0002t0020g0133 a0002c0002t0023g0028 a0002c0002t0032g0082 a0002c0002t0041g0119 a0002c0002t0043g0200 a0002c0002t0045g0113 a0002c0003t0006g0189 a0002c0003t0012g0092 a0002c0003t0018g0145 a0002c0003t0018g0146 a0002c0004t0004g0069 a0002c0004t0009g0106 a0002c0004t0009g0121 a0002c0005t0001g0053 a0002c0005t0001g0054 a0002c0005t0004g0022 a0002c0005t0004g0048 a0002c0006t0016g0100 a0002c0006t0017g0203 a0002c0012t0010g0027 a0004c0015t0006g0120 a0005c0010t0037g0175	71	204	0.3480	13	c.-40 others(30): Show c.-40-1389_-40-1377dupAAAAAAAAAAAAA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29052454	C C	CAAAAAAA others(6): Show CAAAAAAAGAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0035 a0002c0014t0035	a0002c0014t0035g0191 a0002c0014t0035g0191	1	204	0.0049	13	c.-40 others(30): Show c.-40-1384_-40-1383insGAAAAAAAAAAAA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29056610	C C	CTCCCTCC others(6): Show CTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03540.hp2 HG02896.hp1 HG02897.hp2 HG03540.hp2	a0001 a0001	a0001c0007 a0001c0013 a0001c0007 a0001c0013	a0001c0007t0004 a0001c0013t0009 a0001c0007t0004 a0001c0013t0009	a0001c0007t0004g0043 a0001c0007t0004g0044 a0001c0013t0009g0127 a0001c0007t0004g0043 a0001c0007t0004g0044 a0001c0013t0009g0127	3	204	0.0147	13	c.951 others(30): Show c.951+1778_951+1779insCTCCCTCCCTTCC	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29056610	C C	CTCCCTTC others(6): Show CTCCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01081.hp2 others(53): Show HG00323.hp2 HG00738.hp2 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03831.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18944.hp2 NA18953.hp2 NA18956.hp2 NA18971.hp1 NA18986.hp2 NA19030.hp2 NA19060.hp1 NA19088.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0004 others(2): Show a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(24): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0015 a0002c0002t0020 a0002c0002t0023 a0002c0002t0032 a0002c0002t0043 a0002c0002t0045 a0002c0003t0006 a0002c0003t0012 a0002c0003t0013 a0002c0003t0018 a0002c0004t0004 a0002c0004t0009 a0002c0005t0001 a0002c0005t0004 a0002c0012t0010	a0002c0002t0001g0020 a0002c0002t0001g0050 a0002c0002t0002g0095 others(53): Show a0002c0002t0001g0020 a0002c0002t0001g0050 a0002c0002t0002g0095 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0180 a0002c0002t0003g0094 a0002c0002t0003g0167 a0002c0002t0003g0172 a0002c0002t0003g0174 a0002c0002t0003g0182 a0002c0002t0003g0193 a0002c0002t0004g0025 a0002c0002t0004g0042 a0002c0002t0004g0089 a0002c0002t0005g0012 a0002c0002t0005g0026 a0002c0002t0006g0093 a0002c0002t0006g0098 a0002c0002t0006g0108 a0002c0002t0006g0161 a0002c0002t0006g0178 a0002c0002t0007g0002 a0002c0002t0007g0004 a0002c0002t0007g0115 a0002c0002t0007g0140 a0002c0002t0008g0192 a0002c0002t0008g0198 a0002c0002t0008g0201 a0002c0002t0008g0202 a0002c0002t0009g0176 a0002c0002t0010g0072 a0002c0002t0010g0073 a0002c0002t0010g0074 a0002c0002t0011g0102 a0002c0002t0011g0110 a0002c0002t0012g0187 a0002c0002t0015g0084 a0002c0002t0020g0133 a0002c0002t0023g0028 a0002c0002t0032g0082 a0002c0002t0043g0200 a0002c0002t0045g0113 a0002c0003t0006g0189 a0002c0003t0012g0092 a0002c0003t0013g0029 a0002c0003t0018g0145 a0002c0003t0018g0146 a0002c0004t0004g0069 a0002c0004t0009g0106 a0002c0004t0009g0121 a0002c0005t0001g0053 a0002c0005t0001g0054 a0002c0005t0004g0022 a0002c0005t0004g0048 a0002c0012t0010g0027	56	204	0.2745	13	c.951 others(30): Show c.951+1778_951+1779insCTTCCTTCCTTCC	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	29058860	T T	TTGTAGAA others(6): Show TTGTAGAATTCCAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03540.hp1 HG02280.hp1 HG03540.hp1	a0002 a0002	a0002c0004 a0002c0016 a0002c0004 a0002c0016	a0002c0004t0022 a0002c0016t0036 a0002c0004t0022 a0002c0016t0036	a0002c0004t0022g0080 a0002c0016t0036g0001 a0002c0004t0022g0080 a0002c0016t0036g0001	2	204	0.0098	13	c.951 others(30): Show c.951+4032_951+4044dupATTCCACTGTAGA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26516543	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01081.hp1 HG01099.hp1 others(27): Show HG00140.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01256.hp2 HG01496.hp2 HG02148.hp2 HG02165.hp2 HG02486.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG03516.hp2 HG03704.hp2 NA18747.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18956.hp2 NA18962.hp1 NA18968.hp1 NA18969.hp2 NA18990.hp2 NA18991.hp2 NA19060.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0014t0006	a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0066 others(27): Show a0001c0001t0001g0027 a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0138 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0229 a0001c0001t0001g0244 a0001c0001t0002g0249 a0001c0001t0002g0257 a0001c0001t0002g0260 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0295 a0001c0001t0002g0310 a0001c0001t0002g0329 a0001c0001t0003g0317 a0001c0014t0006g0337	30	358	0.0838	13	c.813 others(30): Show c.813+2889_813+2901dupAAAAAAAAAAAAA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)