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
ALPL_chr1_21504423_21583410	21576218	T T	TGATGGAT others(9): Show TGATGGATGGATGGATG	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA19091.hp2 HG03453.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0165 a0001c0001t0004g0289 a0001c0001t0004g0165 a0001c0001t0004g0289	2	370	0.0054	16	c.119 others(33): Show c.1190-283_1190-268dupGATGGATGGATGGATG	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALS2_chr2_201695267_201785933	201734467	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01934.hp1 HG01361.hp2 HG01934.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0049 a0001c0004t0001g0050 a0001c0004t0001g0049 a0001c0004t0001g0050	2	354	0.0057	16	c.241 others(35): Show c.2418-1030_2418-1029insTTTTTTTTTTTTTTTT	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	12/33			chr2	TogoVar
ALX4_chr11_44255440_44315139	44309154	T T	TCCCGCAG others(9): Show TCCCGCAGCCCCGCAGC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(63): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00609.hp1 HG00639.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG02258.hp2 HG02451.hp1 HG02572.hp1 HG02698.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03942.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18949.hp1 NA18966.hp1 NA18973.hp2 NA18982.hp2 NA18985.hp1 NA18991.hp2 NA18995.hp2 NA18997.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA20129.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0031 a0003c0006 a0003c0010 a0003c0015 a0004c0009 a0004c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0015 a0001c0002t0019 a0001c0002t0057 a0001c0005t0004 a0001c0005t0006 a0001c0005t0008 a0001c0007t0004 a0001c0031t0002 a0003c0006t0003 a0003c0006t0009 a0003c0006t0011 a0003c0006t0013 a0003c0006t0019 a0003c0006t0024 a0003c0006t0065 a0003c0010t0002 a0003c0010t0012 a0003c0015t0029 a0004c0009t0009 a0004c0009t0011 a0004c0009t0016 a0004c0024t0001	a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0315 others(61): Show a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0333 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0347 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0338 a0001c0001t0002g0342 a0001c0001t0002g0352 a0001c0001t0004g0311 a0001c0001t0004g0329 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0336 a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0018g0335 a0001c0002t0003g0314 a0001c0002t0003g0344 a0001c0002t0003g0349 a0001c0002t0003g0350 a0001c0002t0003g0351 a0001c0002t0005g0337 a0001c0002t0006g0323 a0001c0002t0006g0331 a0001c0002t0007g0341 a0001c0002t0008g0321 a0001c0002t0009g0348 a0001c0002t0015g0346 a0001c0002t0019g0312 a0001c0002t0057g0334 a0001c0005t0004g0309 a0001c0005t0006g0007 a0001c0005t0006g0320 a0001c0005t0006g0328 a0001c0005t0006g0339 a0001c0005t0008g0327 a0001c0007t0004g0006 a0001c0031t0002g0381 a0003c0006t0003g0036 a0003c0006t0009g0026 a0003c0006t0011g0031 a0003c0006t0013g0033 a0003c0006t0019g0030 a0003c0006t0024g0027 a0003c0006t0065g0035 a0003c0010t0002g0032 a0003c0010t0012g0028 a0003c0010t0012g0029 a0003c0015t0029g0034 a0003c0015t0029g0037 a0004c0009t0009g0172 a0004c0009t0009g0174 a0004c0009t0011g0176 a0004c0009t0016g0175 a0004c0024t0001g0173	66	388	0.1701	16	c.466 others(31): Show c.466+427_466+442dupGCTGCGGGGCTGCGGG	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3			chr11	TogoVar
ALX4_chr11_44255440_44315139	44309162	C C	CCCCGCAG others(9): Show CCCCGCAGCCCCGCTGT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01346.hp2 HG01975.hp1 others(10): Show HG00423.hp2 HG01346.hp2 HG01975.hp1 HG02155.hp1 HG03239.hp1 NA18747.hp2 NA18942.hp1 NA18950.hp1 NA18966.hp2 NA18969.hp2 NA18974.hp1 NA19066.hp1 NA19080.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0008 a0002c0003 a0002c0004 a0002c0008	a0002c0003t0001 a0002c0003t0010 a0002c0004t0003 others(3): Show a0002c0003t0001 a0002c0003t0010 a0002c0004t0003 a0002c0004t0007 a0002c0008t0005 a0002c0008t0006	a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0047 others(10): Show a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0047 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0053 a0002c0003t0001g0055 a0002c0003t0010g0052 a0002c0004t0003g0054 a0002c0004t0007g0043 a0002c0008t0005g0046 a0002c0008t0005g0048 a0002c0008t0006g0049	13	388	0.0335	16	c.466 others(31): Show c.466+434_466+435insACAGCGGGGCTGCGGG	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3			chr11	TogoVar
ALX4_chr11_44255440_44315139	44309180	T T	TCGCAGCC others(9): Show TCGCAGCCCCGCAGCCC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02965.hp1 others(3): Show HG02109.hp2 HG02145.hp1 HG02965.hp1 NA18522.hp1 NA19002.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0026 a0001c0001 a0001c0002 a0001c0026	a0001c0001t0002 a0001c0002t0023 a0001c0002t0027 others(2): Show a0001c0001t0002 a0001c0002t0023 a0001c0002t0027 a0001c0002t0052 a0001c0026t0023	a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0002t0023g0192 others(3): Show a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0002t0023g0192 a0001c0002t0027g0191 a0001c0002t0052g0193 a0001c0026t0023g0189	6	388	0.0155	16	c.466 others(31): Show c.466+401_466+416dupGGGCTGCGGGGCTGCG	ALX4	ENSG00000052850.8	transcript	ENST00000652299.1	protein_coding	1/3			chr11	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(9): Show CTCTCTCTATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 NA18966.hp1 HG01943.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0155 a0001c0004t0001g0008 a0001c0001t0001g0155 a0001c0004t0001g0008	2	480	0.0042	16	c.-36 others(27): Show c.-3652_-3651insTCTCTCTATATATATA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(9): Show CTCTCTCTCTATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	480	0.0021	16	c.-36 others(27): Show c.-3652_-3651insTCTCTCTCTATATATA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 NA18986.hp2 NA19002.hp2 others(1): Show HG04228.hp1 NA18986.hp2 NA19002.hp2 NA19074.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0021 a0001c0001 a0009c0021	a0001c0001t0001 a0001c0001t0003 a0009c0021t0001 a0001c0001t0001 a0001c0001t0003 a0009c0021t0001	a0001c0001t0001g0001 a0001c0001t0001g0157 a0001c0001t0003g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0157 a0001c0001t0003g0001 a0009c0021t0001g0153	4	480	0.0083	16	c.-36 others(27): Show c.-3652_-3651insTCTCTCTCTCTATATA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA19012.hp1 NA18979.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0156 a0001c0001t0001g0001 a0001c0001t0001g0156	2	480	0.0042	16	c.-36 others(27): Show c.-3652_-3651insTCTCTCTCTCTCTATA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBN_chr4_70587256_70612288	70588707	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	480	0.0021	16	c.-36 others(27): Show c.-3652_-3651insTCTCTCTCTCTCTCTA	AMBN	ENSG00000178522.15	transcript	ENST00000322937.10	protein_coding		3548		chr4	TogoVar
AMBP_chr9_114055127_114083300	114066376	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01074.hp1 others(44): Show HG00558.hp2 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01192.hp1 HG01433.hp2 HG01928.hp1 HG01975.hp2 HG02027.hp1 HG02040.hp2 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02486.hp2 HG02698.hp1 HG03688.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18612.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18957.hp2 NA18960.hp1 NA18967.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19011.hp1 NA19066.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19089.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0029 others(26): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0230 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280	47	454	0.1035	16	c.603 others(33): Show c.603+3307_603+3322dupACACACACACACACAC	AMBP	ENSG00000106927.12	transcript	ENST00000265132.8	protein_coding	6/9			chr9	TogoVar
AMBRA1_chr11_46391414_46599023	46400473	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0142 a0001c0002t0002g0142	1	160	0.0063	16	c.340 others(35): Show c.3404-2546_3404-2531dupAAAAAAAAAAAAAAAA	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	17/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46419995	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp2 HG02723.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0001g0092 a0001c0001t0001g0130	2	160	0.0125	16	c.297 others(35): Show c.2977-1959_2977-1944dupGTGTGTGTGTGTGTGT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	14/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46527477	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA19082.hp1 HG01515.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0088 a0001c0001t0001g0091	2	160	0.0125	16	c.207 others(37): Show c.2072+14452_2072+14467dupTTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46568803	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19240.hp2 HG02615.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0009 a0001c0003t0004g0010 a0001c0003t0004g0009 a0001c0003t0004g0010	2	160	0.0125	16	c.-12 others(37): Show c.-120-20319_-120-20304dupAAAAAAAAAAAAAAAA	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMDHD1_chr12_95938331_95973720	95964928	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp2 HG03516.hp1 others(1): Show HG02886.hp1 HG02922.hp2 HG03516.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0003 a0001c0001t0001 a0001c0001t0007 a0001c0002t0003	a0001c0001t0001g0139 a0001c0001t0001g0235 a0001c0001t0007g0116 others(1): Show a0001c0001t0001g0139 a0001c0001t0001g0235 a0001c0001t0007g0116 a0001c0002t0003g0303	4	404	0.0099	16	c.939 others(31): Show c.939-750_939-735dupAAAAAAAAAAAAAAAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95971936	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01192.hp2 HG01884.hp1 others(4): Show HG00735.hp1 HG01192.hp2 HG01884.hp1 HG03041.hp1 HG06807.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0003 a0002c0003t0008 a0001c0001t0001 a0001c0002t0003 a0002c0003t0008	a0001c0001t0001g0142 a0001c0001t0001g0194 a0001c0002t0003g0019 others(4): Show a0001c0001t0001g0142 a0001c0001t0001g0194 a0001c0002t0003g0019 a0001c0002t0003g0043 a0001c0002t0003g0292 a0001c0002t0003g0299 a0002c0003t0008g0104	7	404	0.0173	16	c.40 others(27): Show c.4093_*4094insTTTTTTTTTTTTTTTT	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding		3217		chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02486.hp1 HG02622.hp2 others(1): Show HG00544.hp2 HG02486.hp1 HG02622.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0001 a0001c0001t0001g0040 a0001c0001t0001g0044	4	318	0.0126	16	c.38 others(27): Show c.3867_*3868insTTTTTTTTTTTTTTTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2014		chr16	TogoVar
AMER1_chrX_64180117_64210708	64189514	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG02622.hp2 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0037 a0001c0003t0037	a0001c0003t0037g0155 a0001c0003t0037g0163 a0001c0003t0037g0155 a0001c0003t0037g0163	2	243	0.0082	16	c.36 others(25): Show c.364_*365insTATATACACACACACA	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	364		chrX	TogoVar
AMER1_chrX_64180117_64210708	64189514	G G	GTGTGTGT others(9): Show GTGTGTGTGTGTGTATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0075 a0001c0003t0075	a0001c0003t0075g0161 a0001c0003t0075g0161	1	243	0.0041	16	c.36 others(25): Show c.364_*365insTATACACACACACACA	AMER1	ENSG00000184675.11	transcript	ENST00000374869.8	protein_coding	2/2	364		chrX	TogoVar
AMER2_chr13_25156679_25177288	25174782	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG03491.hp2 others(2): Show HG00544.hp2 HG00621.hp1 HG03491.hp2 HG03831.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0027 a0001c0001t0028 a0001c0001t0060	a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0027g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0006g0000 a0001c0001t0027g0000 a0001c0001t0028g0000 a0001c0001t0060g0000	5	416	0.0120	16	c.-31 others(27): Show c.-3164_-3163insGGAAGGAAGGAAGGAA	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2495		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(9): Show CCTTCCTTCCTTCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01934.hp2 HG01928.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	2	416	0.0048	16	c.-32 others(27): Show c.-3207_-3206insAAAGGAAGGAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(9): Show CCTTCCTTCCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02273.hp1 HG03540.hp2 HG02258.hp1 HG02273.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0067 a0001c0001t0071 a0001c0001t0004 a0001c0001t0067 a0001c0001t0071	a0001c0001t0004g0000 a0001c0001t0067g0000 a0001c0001t0071g0000 a0001c0001t0004g0000 a0001c0001t0067g0000 a0001c0001t0071g0000	3	416	0.0072	16	c.-32 others(27): Show c.-3207_-3206insAAAGAAAGGAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(9): Show CCTTCCTTTCTTCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0000 a0001c0001t0074g0000	1	416	0.0024	16	c.-32 others(27): Show c.-3207_-3206insAAAGGAAGAAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTCCTT others(9): Show CCTTCCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG03017.hp2 HG03225.hp1 others(2): Show HG01192.hp2 HG03017.hp2 HG03225.hp1 HG04228.hp1 HG04228.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0002c0002t0008 others(1): Show a0001c0001t0004 a0001c0001t0006 a0002c0002t0008 a0002c0002t0045	a0001c0001t0004g0000 a0001c0001t0006g0000 a0002c0002t0008g0000 others(1): Show a0001c0001t0004g0000 a0001c0001t0006g0000 a0002c0002t0008g0000 a0002c0002t0045g0000	5	416	0.0120	16	c.-32 others(27): Show c.-3207_-3206insAAAGAAAGAAAGGAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174825	C C	CCTTTCTT others(9): Show CCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03130.hp1 HG03491.hp1 others(1): Show HG02055.hp1 HG03130.hp1 HG03491.hp1 HG03492.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0010 a0002c0002t0008 a0001c0001t0003 a0001c0001t0010 a0002c0002t0008	a0001c0001t0003g0000 a0001c0001t0010g0000 a0002c0002t0008g0000 a0001c0001t0003g0000 a0001c0001t0010g0000 a0002c0002t0008g0000	4	416	0.0096	16	c.-32 others(27): Show c.-3207_-3206insAAAGAAAGAAAGAAAG	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2538		chr13	TogoVar
AMER2_chr13_25156679_25177288	25174875	T T	TTTCTTTC others(9): Show TTTCTTTCTTTCTTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0000 a0001c0001t0009g0000	1	416	0.0024	16	c.-32 others(27): Show c.-3257_-3256insGGAAAGAAAGAAAGAA	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2588		chr13	TogoVar
AMFR_chr16_56356452_56430545	56359468	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02083.hp2 HG03017.hp1 others(5): Show HG00673.hp1 HG02083.hp2 HG03017.hp1 NA18952.hp1 NA18969.hp1 NA18979.hp2 NA18987.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0020 a0001c0001t0046 others(1): Show a0001c0001t0009 a0001c0001t0020 a0001c0001t0046 a0001c0001t0047	a0001c0001t0009g0210 a0001c0001t0009g0212 a0001c0001t0009g0218 others(5): Show a0001c0001t0009g0210 a0001c0001t0009g0212 a0001c0001t0009g0218 a0001c0001t0020g0219 a0001c0001t0020g0221 a0001c0001t0020g0222 a0001c0001t0046g0220 a0001c0001t0047g0214	8	356	0.0225	16	c.34 others(27): Show c.3440_*3441insTTTTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding		1983		chr16	TogoVar
AMFR_chr16_56356452_56430545	56374415	A A	AAAAAACA others(9): Show AAAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02717.hp1 HG02818.hp2 others(4): Show HG02280.hp1 HG02717.hp1 HG02818.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0322 a0001c0002t0012g0323 a0001c0002t0012g0324 others(4): Show a0001c0002t0012g0322 a0001c0002t0012g0323 a0001c0002t0012g0324 a0001c0002t0012g0325 a0001c0002t0012g0326 a0001c0002t0012g0327 a0001c0002t0012g0328	7	356	0.0197	16	c.138 others(35): Show c.1381-5089_1381-5088insGTTTTGTTTTGTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	10/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56374415	A A	ACAAAACA others(9): Show ACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0329 a0001c0002t0012g0329	1	356	0.0028	16	c.138 others(35): Show c.1381-5089_1381-5088insGTTTTGTTTTGTTTTG	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	10/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406072	A A	AGGGGGAG others(9): Show AGGGGGAGGGGGGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	356	0.0028	16	c.667 others(31): Show c.667-844_667-829dupCTCTCCCCCCTCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMIGO1_chr1_109499178_109514727	109501054	T T	TACACACA others(9): Show TACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00741.hp1 others(15): Show HG00140.hp1 HG00323.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01123.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG02809.hp2 HG03490.hp1 HG03492.hp1 HG03704.hp1 NA19063.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0005g0005 a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0005g0005	18	400	0.0450	16	c.63 others(27): Show c.6361_*6376dupGTGTGTGTGTGTGTGT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		3123		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109503476	T T	TCATATAT others(9): Show TCATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG02027.hp2 others(11): Show HG00639.hp1 HG00673.hp2 HG02027.hp2 HG02155.hp1 HG02735.hp1 NA18612.hp2 NA18951.hp2 NA18960.hp2 NA18963.hp2 NA18966.hp2 NA18980.hp2 NA19011.hp1 NA19062.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	14	400	0.0350	16	c.39 others(27): Show c.3954_*3955insTATATATATATATATG	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		701		chr1	TogoVar
AMIGO1_chr1_109499178_109514727	109513895	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	16	c.-45 others(27): Show c.-4564_-4563insTTTTTTTTTTTTTTTT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		4169		chr1	TogoVar
AMN1_chr12_31666142_31734021	31696280	G G	GTATTTAT others(9): Show GTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18612.hp1 NA18948.hp1 others(13): Show HG02027.hp2 NA18612.hp1 NA18948.hp1 NA18962.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp2 NA19004.hp2 NA19011.hp2 NA19060.hp1 NA19063.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(13): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0382	16	432	0.0370	16	c.591 others(33): Show c.591+1080_591+1081insAATAAATAAATAAATA	AMN1	ENSG00000151743.11	transcript	ENST00000281471.11	protein_coding	5/6			chr12	TogoVar
AMOTL1_chr11_94763356_94881748	94840654	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG02647.hp1 HG02809.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0017 a0005c0008t0015 a0001c0001t0017 a0005c0008t0015	a0001c0001t0017g0194 a0005c0008t0015g0224 a0001c0001t0017g0194 a0005c0008t0015g0224	2	246	0.0081	16	c.164 others(35): Show c.1648+9126_1648+9141dupTATATATATATATATA	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
AMOTL1_chr11_94763356_94881748	94840681	T T	TATATATA others(9): Show TATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02683.hp2 HG02602.hp2 HG02683.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0021 a0003c0004t0043 a0003c0004t0021 a0003c0004t0043	a0003c0004t0021g0222 a0003c0004t0043g0223 a0003c0004t0021g0222 a0003c0004t0043g0223	2	246	0.0081	16	c.164 others(35): Show c.1648+9141_1648+9142insTATATATATACACACA	AMOTL1	ENSG00000166025.18	transcript	ENST00000433060.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
AMOTL2_chr3_134350347_134379447	134372530	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01256.hp2 others(13): Show HG00735.hp2 HG01109.hp1 HG01256.hp2 HG01258.hp1 HG02257.hp1 HG02486.hp1 HG02622.hp2 HG02723.hp1 HG03225.hp1 HG03453.hp1 HG03834.hp2 HG03927.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA19064.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0005 a0015c0022 a0001c0001 a0001c0005 a0015c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0033 a0001c0005t0011 a0015c0022t0037	a0001c0001t0001g0061 a0001c0001t0002g0108 a0001c0001t0002g0110 others(10): Show a0001c0001t0001g0061 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0171 a0001c0001t0004g0015 a0001c0001t0004g0125 a0001c0001t0005g0035 a0001c0001t0005g0139 a0001c0001t0009g0124 a0001c0001t0033g0107 a0001c0005t0011g0126 a0001c0005t0011g0143 a0015c0022t0037g0109	16	336	0.0476	16	c.-61 others(33): Show c.-61-1052_-61-1037dupGTGTGTGTGTGTGTGT	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding	1/9			chr3	TogoVar
AMOT_chrX_112769877_112845831	112843628	A A	AAAAACAA others(9): Show AAAAACAAAAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01952.hp1 HG02559.hp1 others(6): Show HG01192.hp1 HG01952.hp1 HG02559.hp1 HG02717.hp1 HG02818.hp1 HG02897.hp2 HG03579.hp1 NA20300.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0030 a0002c0003t0007	a0001c0001t0001g0214 a0001c0001t0005g0249 a0001c0001t0005g0251 others(6): Show a0001c0001t0001g0214 a0001c0001t0005g0249 a0001c0001t0005g0251 a0001c0001t0005g0252 a0001c0001t0009g0248 a0001c0001t0010g0253 a0001c0001t0030g0250 a0002c0003t0007g0008 a0002c0003t0007g0179	9	270	0.0333	16	c.-34 others(27): Show c.-3466_-3465insGTTTGTTTTTTGTTTT	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding		2798		chrX	TogoVar
AMPD1_chr1_114668098_114700546	114677795	C C	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	358	0.0028	16	c.122 others(33): Show c.1224+114_1224+115insAGGAAGGAAGGAAGGA	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	9/15			chr1	TogoVar
AMPD1_chr1_114668098_114700546	114677799	C C	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01192.hp2 HG01261.hp1 others(9): Show HG00323.hp1 HG01192.hp2 HG01261.hp1 HG01891.hp2 HG02922.hp1 HG03098.hp2 HG03453.hp2 NA18612.hp2 NA19055.hp1 NA19085.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 others(5): Show a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0092 a0001c0001t0001g0148 a0001c0001t0001g0190	12	358	0.0335	16	c.122 others(32): Show c.1224+95_1224+110dupAGGAAGGAAGGAAGGA	AMPD1	ENSG00000116748.22	transcript	ENST00000520113.7	protein_coding	9/15			chr1	TogoVar
AMPD2_chr1_109614837_109637051	109615620	A A	AAAAAAGA others(9): Show AAAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18978.hp2 NA19070.hp2 NA18940.hp2 NA18978.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0003 a0002c0002t0002g0006	3	388	0.0077	16	c.-49 others(27): Show c.-4921_-4920insAAAAAGAAAAGAAAAG	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding		4216		chr1	TogoVar
AMPH_chr7_38378704_38636373	38406713	C C	CCTCTCTC others(9): Show CCTCTCTCCCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0250 a0001c0001t0003g0250	1	288	0.0035	16	c.139 others(37): Show c.1398+11111_1398+11112insAGAGAGAGGGAGAGAG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38406728	T T	TTCTCTCT others(9): Show TTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03669.hp1 NA18984.hp1 others(2): Show HG03490.hp2 HG03669.hp1 NA18984.hp1 NA18986.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0172 a0001c0001t0001g0241 a0001c0001t0001g0262 others(2): Show a0001c0001t0001g0172 a0001c0001t0001g0241 a0001c0001t0001g0262 a0001c0001t0006g0027 a0001c0001t0006g0277	5	288	0.0174	16	c.139 others(37): Show c.1398+11096_1398+11097insGAGAGAGAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38406731	C C	CCTCTCTC others(9): Show CCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	288	0.0035	16	c.139 others(37): Show c.1398+11078_1398+11093dupAGAGAGAGAGAGAGAG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407021	C C	CCTCTCTC others(9): Show CCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01496.hp2 HG01981.hp2 others(12): Show HG00621.hp1 HG01496.hp2 HG01981.hp2 HG02145.hp2 HG03486.hp1 HG03834.hp2 HG04228.hp2 NA18906.hp1 NA18963.hp1 NA18995.hp1 NA19007.hp2 NA19009.hp1 NA19054.hp1 NA19066.hp2 NA19076.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0009 a0008c0015	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0007t0005 a0001c0009t0006 a0008c0015t0001	a0001c0001t0001g0071 a0001c0001t0001g0117 a0001c0001t0001g0147 others(12): Show a0001c0001t0001g0071 a0001c0001t0001g0117 a0001c0001t0001g0147 a0001c0001t0001g0174 a0001c0001t0001g0199 a0001c0001t0001g0224 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0261 a0001c0002t0002g0031 a0001c0003t0002g0127 a0001c0003t0002g0160 a0001c0007t0005g0104 a0001c0009t0006g0036 a0008c0015t0001g0226	15	288	0.0521	16	c.139 others(37): Show c.1398+10788_1398+10803dupAGAGAGAGAGAGAGAG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(9): Show CTCTCTCTCTATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA20752.hp2 HG02258.hp2 NA20752.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0014 a0001c0001 a0006c0014	a0001c0001t0004 a0006c0014t0005 a0001c0001t0004 a0006c0014t0005	a0001c0001t0004g0276 a0006c0014t0005g0123 a0001c0001t0004g0276 a0006c0014t0005g0123	2	288	0.0069	16	c.139 others(37): Show c.1398+10776_1398+10777insTATATATAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03209.hp2 HG02976.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0112 a0001c0003t0002g0268 a0001c0001t0001g0112 a0001c0003t0002g0268	2	288	0.0069	16	c.139 others(37): Show c.1398+10776_1398+10777insTATATAGAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0275 a0001c0003t0002g0275	1	288	0.0035	16	c.139 others(37): Show c.1398+10776_1398+10777insTATAGAGAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38407048	C C	CTCTCTCT others(9): Show CTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03139.hp1 HG03834.hp1 others(1): Show HG02809.hp2 HG03139.hp1 HG03834.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0003t0002g0005 others(1): Show a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0003t0002g0005 a0001c0003t0002g0043	4	288	0.0139	16	c.139 others(37): Show c.1398+10776_1398+10777insTAGAGAGAGAGAGAGA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	17/20			chr7	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)