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 (≤).

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⚠️ 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
ALOX5_chr10_45369216_45451117	45384833	C C	CTATTATT others(8): Show CTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03239.hp2 HG00323.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0181 a0001c0002t0002g0293 a0001c0001t0001g0181 a0001c0002t0002g0293	2	345	0.0058	15	c.349 others(32): Show c.349+2163_349+2177dupATTATTATTATTATT	ALOX5	ENSG00000012779.12	transcript	ENST00000374391.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ALOXE3_chr17_8090900_8123514	8101810	T T	TTGTGTTT others(8): Show TTGTGTTTTGGGTAGA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0307	1	422	0.0024	15	c.195 others(34): Show c.1956+1498_1956+1512dupTCTACCCAAAACACA	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	15/15			chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8106776	T T	TTCCCTTT others(8): Show TTCCCTTTTTAAATAC	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	422	0.0024	15	c.168 others(34): Show c.1684+1677_1684+1691dupGTATTTAAAAAGGGA	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8108016	A A	AGGAAAGA others(8): Show AGGAAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	422	0.0024	15	c.168 others(32): Show c.1684+451_1684+452insCTTCTTCTTCTTTCC	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPI_chr2_232451153_232465753	232465429	C C	CTATTTTA others(8): Show CTATTTTATTTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	446	0.0022	15	c.62 others(26): Show c.6283_*6284insTATTTTATTTTATTT	ALPI	ENSG00000163295.5	transcript	ENST00000295463.4	protein_coding		4677		chr2	TogoVar
ALPI_chr2_232451153_232465753	232465431	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG00735.hp1 others(43): Show HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01109.hp1 HG01261.hp2 HG01346.hp2 HG02145.hp1 HG02615.hp1 HG02622.hp1 HG02683.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18959.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp2 NA18978.hp1 NA18986.hp2 NA18987.hp2 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19010.hp2 NA19055.hp2 NA19070.hp2 NA19081.hp1 NA19081.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0007c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0002t0002 a0001c0003t0001 a0007c0009t0014	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0001t0012g0002 a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0003t0001g0002 a0007c0009t0014g0010	46	446	0.1031	15	c.62 others(26): Show c.6285_*6286insTTTTATTTTATTTTA	ALPI	ENSG00000163295.5	transcript	ENST00000295463.4	protein_coding		4679		chr2	TogoVar
ALPK2_chr18_58476247_58634091	58484752	T T	TATAATAA others(8): Show TATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02135.hp1 HG03579.hp1 HG01243.hp1 HG02135.hp1 HG03579.hp1	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0006c0024 a0009c0008 a0001c0001 a0006c0024 a0009c0008	a0001c0001t0006 a0006c0024t0013 a0009c0008t0001 a0001c0001t0006 a0006c0024t0013 a0009c0008t0001	a0001c0001t0006g0073 a0006c0024t0013g0090 a0009c0008t0001g0258 a0001c0001t0006g0073 a0006c0024t0013g0090 a0009c0008t0001g0258	3	320	0.0094	15	c.629 others(34): Show c.6297-2728_6297-2714dupTATTATTATTATTAT	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	12/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58521625	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18971.hp1 NA18986.hp1 others(3): Show NA18964.hp1 NA18971.hp1 NA18986.hp1 NA19002.hp1 NA19010.hp2 NA19085.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0080 a0004c0004 others(1): Show a0002c0002 a0002c0080 a0004c0004 a0004c0068	a0002c0002t0001 a0002c0080t0001 a0004c0004t0001 others(1): Show a0002c0002t0001 a0002c0080t0001 a0004c0004t0001 a0004c0068t0002	a0002c0002t0001g0126 a0002c0002t0001g0146 a0002c0002t0001g0240 others(3): Show a0002c0002t0001g0126 a0002c0002t0001g0146 a0002c0002t0001g0240 a0002c0080t0001g0300 a0004c0004t0001g0302 a0004c0068t0002g0076	6	320	0.0188	15	c.566 others(34): Show c.5665+2180_5665+2181insAAAAAAAAAAAAAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58521627	C C	CTCTTTTT others(8): Show CTCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0079 a0004c0004t0002g0079	1	320	0.0031	15	c.566 others(34): Show c.5665+2178_5665+2179insAAAAAAAAAAAAAGA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58521627	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02717.hp2 NA19060.hp2 HG01943.hp1 HG02717.hp2 NA19060.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0014 a0004c0004 a0002c0002 a0002c0014 a0004c0004	a0002c0002t0002 a0002c0014t0020 a0004c0004t0018 a0002c0002t0002 a0002c0014t0020 a0004c0004t0018	a0002c0002t0002g0031 a0002c0014t0020g0089 a0004c0004t0018g0025 a0002c0002t0002g0031 a0002c0014t0020g0089 a0004c0004t0018g0025	3	320	0.0094	15	c.566 others(34): Show c.5665+2164_5665+2178dupAAAAAAAAAAAAAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	8/12			chr18	TogoVar
ALPK2_chr18_58476247_58634091	58564123	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0023 a0017c0017t0023	a0017c0017t0023g0139 a0017c0017t0023g0139	1	320	0.0031	15	c.196 others(36): Show c.1962+14676_1962+14690dupAAAAAAAAAAAAAAA	ALPK2	ENSG00000198796.7	transcript	ENST00000361673.4	protein_coding	4/12			chr18	TogoVar
ALPL_chr1_21504423_21583410	21527015	G G	GTTCTTTT others(8): Show GTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02258.hp1 HG02723.hp2 others(8): Show HG01106.hp2 HG02258.hp1 HG02723.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 NA18906.hp1 NA20129.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0006 a0001c0001 a0002c0002 a0004c0006	a0001c0001t0004 a0001c0001t0013 a0002c0002t0002 others(3): Show a0001c0001t0004 a0001c0001t0013 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0004c0006t0004	a0001c0001t0004g0135 a0001c0001t0004g0165 a0001c0001t0013g0134 others(8): Show a0001c0001t0004g0135 a0001c0001t0004g0165 a0001c0001t0013g0134 a0002c0002t0002g0105 a0002c0002t0002g0124 a0002c0002t0002g0364 a0002c0002t0004g0177 a0002c0002t0004g0365 a0002c0002t0007g0153 a0002c0002t0007g0156 a0004c0006t0004g0169	11	370	0.0297	15	c.-10 others(36): Show c.-105+17515_-105+17529dupTCTTTTCTTTTCTTT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPL_chr1_21504423_21583410	21552100	T T	TTCCTCCC others(8): Show TTCCTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0220 a0001c0001t0002g0220	1	370	0.0027	15	c.-10 others(34): Show c.-104-1878_-104-1877insTCCTCCCCTCCCCTC	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11			chr1	TogoVar
ALPP_chr2_232373751_232387889	232385077	G G	GGAAGAAG others(8): Show GGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00741.hp1 HG02056.hp1 others(5): Show HG00099.hp1 HG00741.hp1 HG02056.hp1 HG02622.hp1 HG03017.hp1 NA18954.hp1 NA18962.hp2 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0001c0001t0001 a0002c0002t0001 a0002c0005t0001	a0001c0001t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0011 others(1): Show a0001c0001t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0011 a0002c0005t0001g0009	8	410	0.0195	15	c.32 others(26): Show c.3282_*3283insGAAGAAGAAGAAGAA	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2189		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(8): Show AAGAAGAAGAAGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG03834.hp1 NA18993.hp2 HG02630.hp2 HG03834.hp1 NA18993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0001c0001t0001 a0002c0002t0001 a0002c0005t0001	a0001c0001t0001g0001 a0002c0002t0001g0004 a0002c0005t0001g0005 a0001c0001t0001g0001 a0002c0002t0001g0004 a0002c0005t0001g0005	3	410	0.0073	15	c.33 others(26): Show c.3320_*3321insAGAAGAAGAAGAAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(8): Show AAGAAGAAGAAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0001 a0002c0006t0001g0001	1	410	0.0024	15	c.33 others(26): Show c.3320_*3321insAGAAGAAGAAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALPP_chr2_232373751_232387889	232385115	A A	AAGAAGAA others(8): Show AAGAAGAAGGAGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0007 a0012c0013t0007	a0012c0013t0007g0022 a0012c0013t0007g0022	1	410	0.0024	15	c.33 others(26): Show c.3320_*3321insAGAAGAAGGAGGAGG	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding		2227		chr2	TogoVar
ALS2_chr2_201695267_201785933	201734467	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00738.hp2 HG01257.hp2 others(2): Show HG00642.hp1 HG00738.hp2 HG01257.hp2 HG01884.hp1 HG02055.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0001 a0002c0006t0001 a0001c0004t0001 a0002c0006t0001	a0001c0004t0001g0003 a0001c0004t0001g0048 a0001c0004t0001g0157 others(1): Show a0001c0004t0001g0003 a0001c0004t0001g0048 a0001c0004t0001g0157 a0002c0006t0001g0056	5	354	0.0141	15	c.241 others(34): Show c.2418-1030_2418-1029insTTTTTTTTTTTTTTT	ALS2	ENSG00000003393.16	transcript	ENST00000264276.11	protein_coding	12/33			chr2	TogoVar
ALX3_chr1_110054870_110075672	110062645	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03540.hp1 HG02965.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0148 a0001c0001t0001g0150	2	422	0.0047	15	c.595 others(32): Show c.595-1083_595-1082insACACACACACACACA	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3			chr1	TogoVar
AMACR_chr5_33981165_34013050	33991726	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00558.hp1 others(43): Show HG00408.hp2 HG00423.hp2 HG00558.hp1 HG01255.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02165.hp2 HG02258.hp1 HG02559.hp2 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02922.hp1 HG02976.hp2 HG03471.hp1 HG03669.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04228.hp2 NA18906.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18966.hp1 NA18978.hp2 NA18989.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19012.hp1 NA19057.hp2 NA19064.hp2 NA19080.hp1 NA19083.hp2 NA19087.hp1 NA20905.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0007	a0001c0001 a0003c0003 a0004c0004 others(2): Show a0001c0001 a0003c0003 a0004c0004 a0005c0005 a0007c0007	a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 others(13): Show a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0022 a0003c0003t0001 a0003c0003t0003 a0003c0003t0004 a0003c0003t0037 a0004c0004t0001 a0005c0005t0001 a0005c0005t0002 a0005c0005t0005 a0005c0005t0006 a0005c0005t0023 a0005c0005t0043 a0007c0007t0004	a0001c0001t0009g0019 a0001c0001t0011g0050 a0001c0001t0018g0202 others(21): Show a0001c0001t0009g0019 a0001c0001t0011g0050 a0001c0001t0018g0202 a0001c0001t0022g0093 a0003c0003t0001g0192 a0003c0003t0001g0198 a0003c0003t0003g0191 a0003c0003t0004g0009 a0003c0003t0004g0138 a0003c0003t0004g0180 a0003c0003t0037g0151 a0004c0004t0001g0045 a0005c0005t0001g0015 a0005c0005t0001g0054 a0005c0005t0001g0153 a0005c0005t0002g0147 a0005c0005t0002g0205 a0005c0005t0005g0033 a0005c0005t0005g0146 a0005c0005t0005g0149 a0005c0005t0006g0150 a0005c0005t0023g0148 a0005c0005t0043g0196 a0007c0007t0004g0073	46	438	0.1050	15	c.740 others(32): Show c.740-2239_740-2225dupTAATAATAATAATAA	AMACR	ENSG00000242110.9	transcript	ENST00000335606.11	protein_coding	4/4			chr5	TogoVar
AMBRA1_chr11_46391414_46599023	46527477	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02145.hp2 HG02559.hp2 others(7): Show HG01257.hp2 HG02145.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02886.hp2 HG03017.hp2 HG03471.hp1 HG03579.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0067 others(7): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0087 a0001c0001t0001g0093	10	160	0.0625	15	c.207 others(36): Show c.2072+14453_2072+14467dupTTTTTTTTTTTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	7/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	160	0.0063	15	c.-12 others(34): Show c.-121+8132_-121+8133insATATATATATATTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMDHD1_chr12_95938331_95973720	95954573	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp2 HG01975.hp1 others(7): Show HG01109.hp1 HG01496.hp2 HG01975.hp1 HG02015.hp1 HG03491.hp1 HG03710.hp2 HG03834.hp2 NA18981.hp2 NA19002.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0014 a0001c0002 a0008c0014	a0001c0002t0003 a0008c0014t0003 a0001c0002t0003 a0008c0014t0003	a0001c0002t0003g0018 a0001c0002t0003g0261 a0001c0002t0003g0262 others(5): Show a0001c0002t0003g0018 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0002t0003g0273 a0008c0014t0003g0048	10	404	0.0248	15	c.245 others(30): Show c.245-314_245-300dupTAAAATAAAATAAAA	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
AMDHD1_chr12_95938331_95973720	95964928	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG02886.hp2 others(2): Show HG01891.hp1 HG02622.hp1 HG02886.hp2 HG02970.hp1 HG03579.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0001c0001t0005 a0005c0010t0001 a0001c0001t0001 a0001c0001t0005 a0005c0010t0001	a0001c0001t0001g0039 a0001c0001t0005g0147 a0001c0001t0005g0148 others(2): Show a0001c0001t0001g0039 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0186 a0005c0010t0001g0039	5	404	0.0124	15	c.939 others(30): Show c.939-749_939-735dupAAAAAAAAAAAAAAA	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(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01069.hp1 HG01071.hp2 others(15): Show HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG02015.hp2 HG02055.hp1 HG03017.hp1 HG03834.hp1 HG03927.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0003 a0001c0002t0008 a0002c0003t0015 a0001c0002t0003 a0001c0002t0008 a0002c0003t0015	a0001c0002t0003g0019 a0001c0002t0003g0043 a0001c0002t0003g0044 others(13): Show a0001c0002t0003g0019 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0291 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0008g0295 a0002c0003t0015g0089	18	404	0.0446	15	c.40 others(26): Show c.4093_*4094insTTTTTTTTTTTTTTT	AMDHD1	ENSG00000139344.8	transcript	ENST00000266736.7	protein_coding		3217		chr12	TogoVar
AMDHD2_chr16_2515371_2536417	2533430	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG01081.hp1 others(13): Show HG00621.hp2 HG00639.hp2 HG01081.hp1 HG01346.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02559.hp2 HG02630.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG04115.hp2 NA18952.hp2 NA19076.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0016 a0001c0001t0001 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0015g0042 a0001c0001t0016g0001	16	318	0.0503	15	c.38 others(26): Show c.3867_*3868insTTTTTTTTTTTTTTT	AMDHD2	ENSG00000162066.16	transcript	ENST00000293971.11	protein_coding		2014		chr16	TogoVar
AMFR_chr16_56356452_56430545	56359468	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0217 a0001c0001t0009g0217	1	356	0.0028	15	c.34 others(26): Show c.3440_*3441insTTTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding		1983		chr16	TogoVar
AMFR_chr16_56356452_56430545	56359469	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0329 a0001c0002t0012g0329	1	356	0.0028	15	c.34 others(26): Show c.3439_*3440insTTTTTTTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding		1982		chr16	TogoVar
AMFR_chr16_56356452_56430545	56374410	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	356	0.0028	15	c.138 others(34): Show c.1381-5084_1381-5083insGTTTTGTTTTGTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	10/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56374414	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0196 a0001c0001t0004g0196	1	356	0.0028	15	c.138 others(34): Show c.1381-5088_1381-5087insGTTTTGTTTTGTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	10/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56374415	A A	AAAAAAAA others(8): Show AAAAAAAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp2 HG03098.hp1 HG02257.hp2 HG02809.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0051 a0001c0001t0004 a0001c0001t0014 a0001c0001t0051	a0001c0001t0004g0182 a0001c0001t0014g0137 a0001c0001t0051g0343 a0001c0001t0004g0182 a0001c0001t0014g0137 a0001c0001t0051g0343	3	356	0.0084	15	c.138 others(34): Show c.1381-5089_1381-5088insGTTTTGTTTTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	10/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56374415	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01168.hp2 HG01433.hp2 others(7): Show HG00099.hp1 HG01168.hp2 HG01433.hp2 HG01515.hp1 HG01975.hp1 HG02129.hp2 HG02145.hp1 HG02698.hp1 NA18949.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0201 others(7): Show a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0201 a0001c0001t0001g0296 a0001c0001t0003g0266 a0001c0001t0004g0143 a0001c0001t0004g0170 a0001c0001t0005g0011 a0001c0001t0005g0032 a0001c0001t0005g0036	10	356	0.0281	15	c.138 others(34): Show c.1381-5089_1381-5088insGTTTTGTTTTGTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	10/13			chr16	TogoVar
AMFR_chr16_56356452_56430545	56406095	G G	GGGGGGAG others(8): Show GGGGGGAGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	356	0.0028	15	c.667 others(30): Show c.667-852_667-851insTCCCCCCTCTCCCCC	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMOT_chrX_112769877_112845831	112806337	T T	TATATATG others(8): Show TATATATGTTTTATAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG06807.hp2 HG01167.hp1 HG01169.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0014 a0001c0001t0004 a0001c0001t0014	a0001c0001t0004g0153 a0001c0001t0014g0003 a0001c0001t0004g0153 a0001c0001t0014g0003	3	270	0.0111	15	c.163 others(34): Show c.1631-1246_1631-1245insGTATAAAACATATAT	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding	7/13			chrX	TogoVar
AMOT_chrX_112769877_112845831	112843628	A A	AAAACAAA others(8): Show AAAACAAAAAACAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00438.hp2 others(143): Show HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01515.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18982.hp1 NA18984.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0002c0003 a0005c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0021 a0001c0001t0026 a0001c0001t0034 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0017 a0001c0002t0018 a0001c0004t0002 a0001c0005t0008 a0001c0007t0004 a0001c0007t0022 a0001c0008t0001 a0002c0003t0007 a0002c0003t0011 a0005c0010t0003	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0032 others(139): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0003g0001 a0001c0001t0003g0056 a0001c0001t0003g0081 a0001c0001t0003g0083 a0001c0001t0003g0088 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0134 a0001c0001t0003g0138 a0001c0001t0004g0026 a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0001t0004g0139 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0004g0155 a0001c0001t0005g0011 a0001c0001t0005g0021 a0001c0001t0005g0023 a0001c0001t0005g0028 a0001c0001t0005g0059 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0125 a0001c0001t0005g0128 a0001c0001t0005g0154 a0001c0001t0005g0257 a0001c0001t0006g0039 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0073 a0001c0001t0006g0074 a0001c0001t0008g0025 a0001c0001t0008g0129 a0001c0001t0008g0137 a0001c0001t0009g0029 a0001c0001t0009g0163 a0001c0001t0009g0259 a0001c0001t0009g0260 a0001c0001t0010g0024 a0001c0001t0010g0048 a0001c0001t0010g0113 a0001c0001t0012g0037 a0001c0001t0012g0089 a0001c0001t0013g0016 a0001c0001t0013g0017 a0001c0001t0015g0022 a0001c0001t0015g0126 a0001c0001t0016g0258 a0001c0001t0019g0131 a0001c0001t0021g0100 a0001c0001t0026g0140 a0001c0001t0034g0262 a0001c0001t0035g0263 a0001c0002t0001g0122 a0001c0002t0002g0002 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0045 a0001c0002t0002g0049 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0070 a0001c0002t0002g0075 a0001c0002t0002g0084 a0001c0002t0002g0110 a0001c0002t0002g0115 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0123 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0211 a0001c0002t0002g0228 a0001c0002t0017g0124 a0001c0002t0017g0142 a0001c0002t0018g0031 a0001c0004t0002g0015 a0001c0004t0002g0085 a0001c0004t0002g0157 a0001c0005t0008g0019 a0001c0007t0004g0027 a0001c0007t0022g0082 a0001c0008t0001g0106 a0002c0003t0007g0013 a0002c0003t0007g0020 a0002c0003t0007g0076 a0002c0003t0011g0006 a0002c0003t0011g0007 a0005c0010t0003g0127	146	270	0.5407	15	c.-34 others(26): Show c.-3466_-3465insGTTTGTTTTTTGTTT	AMOT	ENSG00000126016.17	transcript	ENST00000371959.9	protein_coding		2798		chrX	TogoVar
AMPD2_chr1_109614837_109637051	109615620	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02027.hp2 HG02071.hp1 others(34): Show HG00597.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp2 HG02155.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp2 HG02735.hp1 HG02818.hp2 HG03225.hp2 HG03579.hp2 HG03834.hp1 HG03834.hp2 NA18612.hp2 NA18942.hp2 NA18946.hp2 NA18947.hp2 NA18955.hp1 NA18962.hp1 NA18964.hp1 NA18972.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA18990.hp2 NA18991.hp2 NA19004.hp1 NA19007.hp2 NA19057.hp1 NA19063.hp1 NA19072.hp2 NA19081.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0007	a0001c0001t0001 a0001c0001t0011 a0001c0003t0004 others(4): Show a0001c0001t0001 a0001c0001t0011 a0001c0003t0004 a0002c0002t0002 a0002c0002t0013 a0002c0004t0005 a0002c0007t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0011g0005 a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0059 a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0018 a0002c0002t0002g0026 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0013g0053 a0002c0004t0005g0040 a0002c0007t0002g0046	37	388	0.0954	15	c.-49 others(26): Show c.-4921_-4920insAAAAGAAAAGAAAAG	AMPD2	ENSG00000116337.20	transcript	ENST00000528667.7	protein_coding		4216		chr1	TogoVar
AMPH_chr7_38378704_38636373	38433724	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0257 a0001c0005t0001g0257	1	288	0.0035	15	c.113 others(34): Show c.1135-1527_1135-1513dupTTTTTTTTTTTTTTT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	12/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38437639	A A	AAAAAAAA others(8): Show AAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0226 a0008c0015t0001g0226	1	288	0.0035	15	c.101 others(34): Show c.1018-1252_1018-1251insCTTTTCTTTTTTTTT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38613323	C C	CCCTTATA others(8): Show CCCTTATAGCATACCA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG01192.hp2 others(11): Show HG00140.hp1 HG00733.hp1 HG01192.hp2 HG01346.hp2 HG01975.hp2 HG01978.hp2 HG02148.hp1 HG02300.hp2 HG02809.hp2 HG02895.hp1 HG03130.hp2 HG03669.hp1 HG04184.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0003c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0007t0008 a0003c0006t0004	a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0281 others(11): Show a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0288 a0001c0001t0004g0006 a0001c0001t0006g0277 a0001c0002t0002g0008 a0001c0002t0002g0280 a0001c0002t0002g0282 a0001c0003t0001g0284 a0001c0003t0001g0287 a0001c0003t0002g0005 a0001c0007t0008g0283 a0003c0006t0004g0007	14	288	0.0486	15	c.69+ others(32): Show c.69+17959_69+17960insTGGTATGCTATAAGG	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
AMPH_chr7_38378704_38636373	38624379	T T	TTATTATT others(8): Show TTATTATTAGTATTAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02895.hp1 HG03130.hp2 others(1): Show HG02809.hp2 HG02895.hp1 HG03130.hp2 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0004 a0001c0002t0002 a0001c0003t0002 others(1): Show a0001c0001t0004 a0001c0002t0002 a0001c0003t0002 a0003c0006t0004	a0001c0001t0004g0006 a0001c0002t0002g0008 a0001c0003t0002g0005 others(1): Show a0001c0001t0004g0006 a0001c0002t0002g0008 a0001c0003t0002g0005 a0003c0006t0004g0007	4	288	0.0139	15	c.69+ others(30): Show c.69+6903_69+6904insCTAATACTAATAATA	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	1/20			chr7	TogoVar
ANAPC10_chr4_144989576_145103196	145011336	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01261.hp2 HG01346.hp1 others(25): Show HG00280.hp2 HG01261.hp2 HG01346.hp1 HG01515.hp1 HG01928.hp1 HG01943.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02257.hp1 HG02559.hp1 HG02735.hp1 HG03239.hp1 HG03492.hp2 HG03831.hp2 HG06807.hp2 NA18954.hp2 NA18969.hp1 NA18970.hp2 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA19054.hp1 NA19062.hp1 NA19074.hp2 NA19086.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 others(25): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0049 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0093 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0306 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0007g0001 a0001c0001t0008g0285	28	336	0.0833	15	c.328 others(34): Show c.328-15748_328-15734dupATTTTATTTTATTTT	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANAPC13_chr3_134472706_134490985	134474506	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01891.hp2 others(8): Show HG01243.hp1 HG01884.hp2 HG01891.hp2 HG02258.hp2 HG02970.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp1 NA19079.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0002g0006 a0001c0001t0004g0026	11	394	0.0279	15	c.40 others(26): Show c.4083_*4084insAAAAAAAAAAAAAAA	ANAPC13	ENSG00000129055.13	transcript	ENST00000354910.10	protein_coding		3199		chr3	TogoVar
ANAPC13_chr3_134472706_134490985	134490647	T T	TCCCATAA others(8): Show TCCCATAAAACAAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(262): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0002g0006 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0003g0009 a0001c0001t0005g0012 a0001c0001t0006g0019 a0001c0001t0007g0042 a0001c0001t0008g0029 a0001c0001t0009g0039 a0001c0002t0004g0018	265	394	0.6726	15	c.-47 others(26): Show c.-4738_-4724dupTACTTGTTTTATGGG	ANAPC13	ENSG00000129055.13	transcript	ENST00000354910.10	protein_coding		4663		chr3	TogoVar
ANAPC16_chr10_72211012_72240860	72218145	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	352	0.0028	15	c.-28 others(32): Show c.-28+2014_-28+2028dupAAAAAAAAAAAAAAA	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111764893	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG04115.hp2 HG02165.hp2 HG04115.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0027 a0001c0006t0005g0028 a0001c0006t0005g0027 a0001c0006t0005g0028	2	370	0.0054	15	c.43 others(26): Show c.4397_*4398insTATATATATATATAT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding		2746		chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111832937	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp2 HG02071.hp2 others(5): Show HG01109.hp1 HG01361.hp2 HG02071.hp2 HG02148.hp2 HG02300.hp1 NA18939.hp2 NA18968.hp1 NA18989.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0029 a0001c0002 a0001c0003 a0001c0029	a0001c0002t0002 a0001c0003t0004 a0001c0003t0018 others(1): Show a0001c0002t0002 a0001c0003t0004 a0001c0003t0018 a0001c0029t0002	a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0219 others(5): Show a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0219 a0001c0002t0002g0225 a0001c0002t0002g0239 a0001c0003t0004g0287 a0001c0003t0018g0295 a0001c0029t0002g0210	8	370	0.0216	15	c.247 others(32): Show c.2476+268_2476+282dupTTTTTTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	20/47			chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111833681	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00733.hp2 others(36): Show HG00140.hp1 HG00140.hp2 HG00733.hp2 HG01099.hp2 HG01346.hp2 HG01496.hp1 HG01891.hp2 HG01943.hp2 HG01975.hp1 HG02071.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02698.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03669.hp1 HG06807.hp2 NA18939.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18975.hp2 NA18982.hp2 NA18989.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp2 NA19043.hp2 NA19085.hp2 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0008 others(4): Show a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0012 a0001c0017	a0001c0004t0003 a0001c0004t0017 a0001c0007t0002 others(6): Show a0001c0004t0003 a0001c0004t0017 a0001c0007t0002 a0001c0007t0007 a0001c0008t0008 a0001c0010t0007 a0001c0011t0003 a0001c0012t0002 a0001c0017t0003	a0001c0004t0003g0153 a0001c0004t0003g0154 a0001c0004t0003g0155 others(35): Show a0001c0004t0003g0153 a0001c0004t0003g0154 a0001c0004t0003g0155 a0001c0004t0003g0157 a0001c0004t0003g0158 a0001c0004t0003g0159 a0001c0004t0003g0163 a0001c0004t0003g0164 a0001c0004t0003g0165 a0001c0004t0003g0167 a0001c0004t0003g0168 a0001c0004t0003g0169 a0001c0004t0003g0171 a0001c0004t0003g0172 a0001c0004t0003g0175 a0001c0004t0003g0176 a0001c0004t0003g0178 a0001c0004t0003g0179 a0001c0004t0003g0180 a0001c0004t0003g0181 a0001c0004t0003g0183 a0001c0004t0003g0185 a0001c0004t0017g0161 a0001c0007t0002g0143 a0001c0007t0007g0259 a0001c0007t0007g0260 a0001c0007t0007g0261 a0001c0008t0008g0004 a0001c0008t0008g0145 a0001c0008t0008g0146 a0001c0008t0008g0147 a0001c0008t0008g0148 a0001c0010t0007g0311 a0001c0010t0007g0313 a0001c0011t0003g0187 a0001c0011t0003g0188 a0001c0012t0002g0309 a0001c0017t0003g0156	39	370	0.1054	15	c.238 others(32): Show c.2385-371_2385-370insTTTTTTTTTTTTTTT	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	19/47			chr2	TogoVar
ANAPC5_chr12_121303245_121357411	121352707	G G	GGTTGTTG others(8): Show GGTTGTTGTTGTTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0099 a0001c0004t0001g0099	1	278	0.0036	15	c.-36 others(24): Show c.-368_-367insAACAACAACAACAAC	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		297		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGGTGGT others(8): Show TTGGTGGTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0096 a0001c0002t0001g0097	2	278	0.0072	15	c.-39 others(24): Show c.-393_-379dupCCACCACCACCACCA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121352718	T T	TTGTTGTT others(8): Show TTGTTGTTGGTGGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG01099.hp2 others(4): Show HG01069.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01975.hp2 HG03831.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(4): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0146	7	278	0.0252	15	c.-37 others(24): Show c.-379_-378insCCACCACCAACAACA	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding		308		chr12	TogoVar

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