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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ASCC1_chr10_72091032_72221276	72198285	T T	TGGGGGGG others(8): Show TGGGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG06807.hp1 HG02895.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0002 a0003c0003t0002g0001 a0001c0001t0001g0002 a0003c0003t0002g0001	2	216	0.0093	15	c.311 others(32): Show c.311-1297_311-1296insCTCCCCCTCCCCCCC		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9						chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198365	G G	GGGGAGGG others(8): Show GGGGAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	216	0.0046	15	c.311 others(32): Show c.311-1377_311-1376insTCCCCCTCCCCTCCC		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9						chr10	TogoVar
ASCC2_chr22_29783611_29843274	29838203	T T	TGCCGCCG others(8): Show TGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp1 HG01070.hp1 HG01934.hp1 others(15): Show HG00423.hp1 HG01070.hp1 HG01934.hp1 HG01978.hp1 HG02080.hp2 HG02132.hp1 HG02145.hp2 HG02735.hp2 HG03516.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18956.hp2 NA18985.hp2 NA19005.hp1 NA19009.hp1 NA19054.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0005 a0004c0004t0005 a0001c0001t0005 a0004c0004t0005	a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 others(15): Show a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0061 a0004c0004t0005g0047 a0004c0004t0005g0053 a0004c0004t0005g0054 a0004c0004t0005g0055 a0004c0004t0005g0056 a0004c0004t0005g0057 a0004c0004t0005g0058 a0004c0004t0005g0059 a0004c0004t0005g0060 a0004c0004t0005g0062 a0004c0004t0005g0063 a0004c0004t0005g0064	18	372	0.0484	15	c.-58 others(22): Show c.-58_-44dupGGCGGCGGCGGCGGC		ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	1/20				5879		chr22	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG03017.hp2 HG03942.hp2 others(2): Show HG00609.hp2 HG03017.hp2 HG03942.hp2 NA18612.hp2 NA18943.hp1	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0005 a0002c0003t0002 a0001c0006t0005 a0002c0003t0002	a0001c0006t0005g0161 a0001c0006t0005g0163 a0001c0006t0005g0166 others(2): Show a0001c0006t0005g0161 a0001c0006t0005g0163 a0001c0006t0005g0166 a0001c0006t0005g0170 a0002c0003t0002g0059	5	314	0.0159	15	c.530 others(34): Show c.5303+3986_5303+4000dupTTTTTTTTTTTTTTT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608479	T T	TTATATAT others(8): Show TTATATATATATTTTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	314	0.0032	15	c.478 others(34): Show c.4786-1392_4786-1391insTAAAATATATATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608507	T T	TTATATAT others(8): Show TTATATATATATTTTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00621.hp2 others(30): Show HG00423.hp1 HG00609.hp1 HG00621.hp2 HG01099.hp1 HG01192.hp2 HG01496.hp1 HG01928.hp2 HG01993.hp2 HG02004.hp1 HG02129.hp2 HG02273.hp1 HG02300.hp1 HG02572.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp1 NA18522.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18963.hp2 NA18971.hp1 NA18977.hp1 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA18994.hp1 NA19010.hp1 NA19060.hp2 NA19070.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0017	a0001c0002 a0001c0020 a0004c0008 others(2): Show a0001c0002 a0001c0020 a0004c0008 a0005c0022 a0017c0031	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(5): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0013 a0001c0020t0003 a0004c0008t0003 a0005c0022t0003 a0017c0031t0003	a0001c0002t0002g0083 a0001c0002t0002g0135 a0001c0002t0003g0075 others(30): Show a0001c0002t0002g0083 a0001c0002t0002g0135 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0078 a0001c0002t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0097 a0001c0002t0003g0099 a0001c0002t0003g0102 a0001c0002t0003g0104 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0122 a0001c0002t0003g0126 a0001c0002t0003g0137 a0001c0002t0003g0140 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0153 a0001c0002t0006g0181 a0001c0002t0006g0183 a0001c0002t0006g0186 a0001c0002t0013g0121 a0001c0020t0003g0134 a0004c0008t0003g0063 a0005c0022t0003g0098 a0017c0031t0003g0110	33	314	0.1051	15	c.478 others(34): Show c.4786-1420_4786-1419insTAAAATATATATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608535	T T	TTATATAT others(8): Show TTATATATATATTTTA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02280.hp2 others(5): Show HG01884.hp2 HG01891.hp1 HG02280.hp2 HG02451.hp1 HG02922.hp2 HG02976.hp2 HG03490.hp2 NA19003.hp1	a0001 a0008 a0001 a0008	a0001c0002 a0008c0010 a0001c0002 a0008c0010	a0001c0002t0002 a0001c0002t0003 a0008c0010t0003 a0001c0002t0002 a0001c0002t0003 a0008c0010t0003	a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0127 others(5): Show a0001c0002t0002g0091 a0001c0002t0002g0093 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0142 a0001c0002t0003g0096 a0001c0002t0003g0114 a0008c0010t0003g0092	8	314	0.0255	15	c.478 others(34): Show c.4786-1448_4786-1447insTAAAATATATATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608602	T T	TTTTATAT others(8): Show TTTTATATATATATAC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19010.hp2 NA19003.hp2 NA19010.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0003 a0004c0013t0003	a0004c0013t0003g0040 a0004c0013t0003g0065 a0004c0013t0003g0040 a0004c0013t0003g0065	2	314	0.0064	15	c.478 others(34): Show c.4786-1529_4786-1515dupGTATATATATATAAA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100677337	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0187 a0003c0004t0004g0187	1	314	0.0032	15	c.228 others(34): Show c.2286+2280_2286+2281insTTTTTTTTTTTTTTT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	14/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100699532	C C	CCAGTAGA others(8): Show CCAGTAGAGTGAGGTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp2 HG01928.hp1 others(12): Show HG00621.hp1 HG00738.hp2 HG01928.hp1 HG01943.hp1 HG02004.hp2 HG02074.hp1 HG02132.hp2 HG02148.hp2 HG02523.hp1 NA18944.hp2 NA18964.hp2 NA18980.hp2 NA18981.hp1 NA19002.hp2 NA19054.hp2	a0002 a0009 a0010 others(1): Show a0002 a0009 a0010 a0022	a0002c0003 a0009c0036 a0010c0035 others(1): Show a0002c0003 a0009c0036 a0010c0035 a0022c0037	a0002c0003t0002 a0009c0036t0002 a0010c0035t0002 others(1): Show a0002c0003t0002 a0009c0036t0002 a0010c0035t0002 a0022c0037t0002	a0002c0003t0002g0028 a0002c0003t0002g0035 a0002c0003t0002g0043 others(12): Show a0002c0003t0002g0028 a0002c0003t0002g0035 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0051 a0002c0003t0002g0066 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0009c0036t0002g0049 a0010c0035t0002g0044 a0022c0037t0002g0056	15	314	0.0478	15	c.215 others(36): Show c.2151+15915_2151+15929dupCACCTCACTCTACTG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	13/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100723860	T T	TCATATAT others(8): Show TCATATATATAATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0003 a0016c0017t0003	a0016c0017t0003g0133 a0016c0017t0003g0133	1	314	0.0032	15	c.190 others(34): Show c.1902+1678_1902+1679insTATATTATATATATG		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	11/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100730298	G G	GAAAACAA others(8): Show GAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00735.hp2 others(41): Show HG00423.hp2 HG00438.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01257.hp1 HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG02040.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02165.hp1 HG02258.hp2 HG02486.hp2 HG02683.hp2 HG03017.hp1 HG03225.hp1 HG03492.hp1 HG03516.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03942.hp1 HG04204.hp1 NA18944.hp1 NA18955.hp2 NA18963.hp1 NA18991.hp2 NA18994.hp2 NA19011.hp2 NA19058.hp1 NA19070.hp1 NA19078.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0021	a0001c0001 a0001c0015 a0003c0004 others(3): Show a0001c0001 a0001c0015 a0003c0004 a0003c0026 a0005c0007 a0021c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0016 a0001c0015t0001 a0003c0004t0004 a0003c0026t0001 a0005c0007t0001 a0005c0007t0008 a0021c0014t0014	a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0001g0226 others(41): Show a0001c0001t0001g0208 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0002g0095 a0001c0001t0002g0138 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0010g0001 a0001c0001t0016g0230 a0001c0015t0001g0281 a0003c0004t0004g0173 a0003c0026t0001g0259 a0005c0007t0001g0291 a0005c0007t0001g0292 a0005c0007t0001g0293 a0005c0007t0008g0309 a0021c0014t0014g0242	44	314	0.1401	15	c.173 others(34): Show c.1738-4610_1738-4596dupGTTTTGTTTTGTTTT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	10/41						chr6	TogoVar
ASCL1_chr12_102952674_102965513	102958393	C C	CGCAGCAG others(8): Show CGCAGCAGCAGCAGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02257.hp2 HG02280.hp1 HG02257.hp2 HG02280.hp1	a0008 a0008	a0008c0017 a0008c0018 a0008c0017 a0008c0018	a0008c0017t0012 a0008c0018t0005 a0008c0017t0012 a0008c0018t0005	a0008c0017t0012g0001 a0008c0018t0005g0001 a0008c0017t0012g0001 a0008c0018t0005g0001	2	354	0.0057	15	c.172 others(22): Show c.172_186dupCAGCAGCAGCAGCAG	p.Gln others(11): Show p.Gln58_Gln62dup	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	758/2481	187/711	63/236		INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL3_chr11_8932578_8948016	8936744	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(159): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18995.hp1 NA18999.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19070.hp2 NA19072.hp1 NA19075.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0007	a0001c0001 a0001c0012 a0004c0013 others(3): Show a0001c0001 a0001c0012 a0004c0013 a0005c0009 a0006c0010 a0007c0011	a0001c0001t0001 a0001c0012t0001 a0004c0013t0001 others(3): Show a0001c0001t0001 a0001c0012t0001 a0004c0013t0001 a0005c0009t0001 a0006c0010t0001 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0012t0001g0061 a0004c0013t0001g0056 a0005c0009t0001g0060 a0006c0010t0001g0055 a0007c0011t0001g0062	162	440	0.3682	15	c.87 others(24): Show c.871_*872insAAAAAAAAAAAAAAA		ASCL3	ENSG00000176009.4	transcript	ENST00000531618.2	protein_coding					833		chr11	TogoVar
ASCL4_chr12_107769704_107781644	107773043	A A	AAATAATA others(8): Show AAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG03471.hp2 HG03486.hp2 others(2): Show HG02129.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0008g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0008g0000	5	462	0.0108	15	c.-21 others(26): Show c.-2176_-2175insAATAATAATAATAAT		ASCL4	ENSG00000187855.6	transcript	ENST00000342331.5	protein_coding					1660		chr12	TogoVar
ASIC2_chr17_33008087_33298295	33032440	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0150 a0001c0004t0002g0150	1	240	0.0042	15	c.988 others(32): Show c.988-4063_988-4049dupAAAAAAAAAAAAAAA		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33068528	T T	TCAAAACA others(8): Show TCAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA19030.hp1 NA19060.hp1 HG01433.hp2 NA19030.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001	a0001c0001t0006g0050 a0001c0001t0007g0234 a0001c0002t0001g0129 a0001c0001t0006g0050 a0001c0001t0007g0234 a0001c0002t0001g0129	3	240	0.0125	15	c.987 others(34): Show c.987+20320_987+20334dupTTTTGTTTTGTTTTG		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	3/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33232436	T T	TATGGTAT others(8): Show TATGGTATGGTATGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0214 a0002c0003t0002g0214	1	240	0.0042	15	c.708 others(34): Show c.708+58971_708+58972insTCCATACCATACCAT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC2_chr17_33008087_33298295	33232446	A A	AATGGTAT others(8): Show AATGGTATGGTATGGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp2 HG00735.hp2 others(15): Show HG00597.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01258.hp2 HG01943.hp1 HG01952.hp2 HG02145.hp2 HG02258.hp2 HG02622.hp1 HG02896.hp2 HG03453.hp2 NA18943.hp1 NA18944.hp1 NA18970.hp1 NA18985.hp1 NA19004.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0004 a0001c0001t0007 a0001c0001t0020 others(7): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0020 a0001c0002t0002 a0001c0002t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0002c0003t0001 a0002c0003t0030	a0001c0001t0004g0019 a0001c0001t0007g0236 a0001c0001t0020g0021 others(15): Show a0001c0001t0004g0019 a0001c0001t0007g0236 a0001c0001t0020g0021 a0001c0002t0002g0095 a0001c0002t0002g0100 a0001c0002t0002g0113 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0003g0005 a0001c0002t0003g0006 a0001c0004t0001g0157 a0001c0004t0002g0150 a0001c0004t0010g0151 a0002c0003t0001g0211 a0002c0003t0001g0219 a0002c0003t0030g0220	18	240	0.0750	15	c.708 others(34): Show c.708+58947_708+58961dupACCATACCATACCAT		ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9						chr17	TogoVar
ASIC4_chr2_219509482_219543772	219510595	T T	TCCTGATG others(8): Show TCCTGATGCCCCCATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	372	0.0027	15	c.-41 others(26): Show c.-4130_-4129insCCTGATGCCCCCATC		ASIC4	ENSG00000072182.14	transcript	ENST00000358078.5	protein_coding					3886		chr2	TogoVar
ASIP_chr20_34236423_34274344	34269946	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	15	c.77 others(24): Show c.779_*780insAAAAAAAAAAAAAAA		ASIP	ENSG00000101440.10	transcript	ENST00000374954.4	protein_coding					603		chr20	TogoVar
ASMT_chrX_1610059_1648081	1619549	T T	TATAATAA others(8): Show TATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	223	0.0045	15	c.70- others(30): Show c.70-3564_70-3550dupTAATAATAATAATAA		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASNS_chr7_97846677_97877408	97847270	C C	CTCCATCA others(8): Show CTCCATCAGCCTCGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0058 a0003c0005t0001g0058	1	436	0.0023	15	c.49 others(26): Show c.4988_*4989insACCGAGGCTGATGGA		ASNS	ENSG00000070669.17	transcript	ENST00000394308.8	protein_coding					4406		chr7	TogoVar
ASPHD2_chr22_26424260_26450015	26435710	T T	TAAAAGAA others(8): Show TAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA19002.hp2 HG00323.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0035 a0001c0001t0006 a0001c0001t0035	a0001c0001t0006g0144 a0001c0001t0035g0207 a0001c0001t0006g0144 a0001c0001t0035g0207	2	428	0.0047	15	c.886 others(32): Show c.886+1249_886+1263dupGAAAAGAAAAGAAAA		ASPHD2	ENSG00000128203.7	transcript	ENST00000215906.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr22	TogoVar
ASPM_chr1_197079127_197151669	197148333	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02523.hp2 HG02897.hp1 others(4): Show HG02155.hp2 HG02523.hp2 HG02897.hp1 HG03098.hp1 NA18612.hp2 NA18969.hp1 NA19072.hp1	a0001 a0003 a0011 others(1): Show a0001 a0003 a0011 a0013	a0001c0001 a0003c0005 a0011c0016 others(1): Show a0001c0001 a0003c0005 a0011c0016 a0013c0025	a0001c0001t0001 a0003c0005t0003 a0011c0016t0001 others(1): Show a0001c0001t0001 a0003c0005t0003 a0011c0016t0001 a0013c0025t0004	a0001c0001t0001g0121 a0003c0005t0003g0015 a0003c0005t0003g0038 others(4): Show a0001c0001t0001g0121 a0003c0005t0003g0015 a0003c0005t0003g0038 a0003c0005t0003g0039 a0003c0005t0003g0042 a0011c0016t0001g0009 a0013c0025t0004g0022	7	296	0.0237	15	c.-18 others(26): Show c.-1897_-1896insTTTTTTTTTTTTTTT		ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding					1665		chr1	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(8): Show GGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	1	464	0.0022	15	c.42 others(26): Show c.4205_*4206insTTCTTCTTCTTCTTC		ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding					3637		chr2	TogoVar
ASRGL1_chr11_62332448_62398412	62357224	C C	CTTTTGTT others(8): Show CTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp2 HG01168.hp2 others(23): Show HG00642.hp1 HG01074.hp2 HG01168.hp2 HG01169.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03453.hp1 HG04115.hp1 NA18942.hp1 NA18953.hp1 NA18980.hp2 NA19060.hp1 NA19079.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0020 a0001c0001t0026 a0001c0003t0001	a0001c0001t0001g0048 a0001c0001t0001g0088 a0001c0001t0001g0108 others(23): Show a0001c0001t0001g0048 a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0246 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0006g0241 a0001c0001t0006g0254 a0001c0001t0006g0264 a0001c0001t0006g0265 a0001c0001t0006g0280 a0001c0001t0020g0340 a0001c0001t0020g0341 a0001c0001t0026g0132 a0001c0003t0001g0089 a0001c0003t0001g0090 a0001c0003t0001g0114	26	370	0.0703	15	c.491 others(30): Show c.491+109_491+123dupTGTTTTGTTTTGTTT		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62383602	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02572.hp2 NA19078.hp1 HG02109.hp1 HG02572.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0143 a0001c0001t0003g0176 a0001c0002t0003g0311 a0001c0001t0003g0143 a0001c0001t0003g0176 a0001c0002t0003g0311	3	370	0.0081	15	c.492 others(32): Show c.492-5519_492-5505dupAAAAAAAAAAAAAAA		ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr11	TogoVar
ASTN1_chr1_176856067_177169712	176922556	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0015 a0002c0011t0001g0015	1	112	0.0089	15	c.267 others(36): Show c.2671+11581_2671+11595dupTTTTTTTTTTTTTTT		ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	16/22						chr1	TogoVar
ASTN2_chr9_116418112_117420057	116439194	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG02572.hp2 others(1): Show HG00735.hp2 HG01891.hp1 HG02572.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0002 a0001c0001t0016 a0001c0003t0004 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0003t0004 a0001c0011t0004	a0001c0001t0002g0040 a0001c0001t0016g0075 a0001c0003t0004g0085 others(1): Show a0001c0001t0002g0040 a0001c0001t0016g0075 a0001c0003t0004g0085 a0001c0011t0004g0097	4	102	0.0392	15	c.378 others(34): Show c.3782+1400_3782+1414dupAAAAAAAAAAAAAAA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	22/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116453593	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0008 a0001c0001t0008g0008	1	102	0.0098	15	c.349 others(36): Show c.3498-11055_3498-11041dupTTTTTTTTTTTTTTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116530151	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0087 a0001c0001t0007g0087	1	102	0.0098	15	c.335 others(36): Show c.3356-42652_3356-42651insATATATATATATATA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116632205	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01243.hp2 HG02965.hp2 HG00099.hp1 HG01243.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0014 a0001c0001 a0001c0008 a0001c0014	a0001c0001t0003 a0001c0008t0005 a0001c0014t0017 a0001c0001t0003 a0001c0008t0005 a0001c0014t0017	a0001c0001t0003g0063 a0001c0008t0005g0073 a0001c0014t0017g0050 a0001c0001t0003g0063 a0001c0008t0005g0073 a0001c0014t0017g0050	3	102	0.0294	15	c.307 others(36): Show c.3073-11763_3073-11762insCTTTCTTTCTTTCTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116815804	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01261.hp1 HG01884.hp1 others(11): Show HG00639.hp1 HG01261.hp1 HG01884.hp1 HG03017.hp1 HG03139.hp1 HG03139.hp2 HG03471.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19066.hp2 NA20300.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0004c0024	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(11): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0005 a0001c0003t0010 a0001c0005t0005 a0001c0009t0004 a0001c0009t0008 a0004c0024t0013	a0001c0001t0003g0013 a0001c0001t0007g0078 a0001c0001t0011g0002 others(11): Show a0001c0001t0003g0013 a0001c0001t0007g0078 a0001c0001t0011g0002 a0001c0001t0015g0045 a0001c0002t0001g0093 a0001c0002t0002g0059 a0001c0002t0003g0094 a0001c0002t0004g0043 a0001c0003t0005g0082 a0001c0003t0010g0052 a0001c0005t0005g0076 a0001c0009t0004g0032 a0001c0009t0008g0088 a0004c0024t0013g0101	14	102	0.1373	15	c.220 others(34): Show c.2207+4798_2207+4812dupTTTTTTTTTTTTTTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116933979	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02698.hp2 HG03130.hp2 others(2): Show HG01081.hp2 HG02698.hp2 HG03130.hp2 NA19011.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0003t0010 a0001c0008t0005	a0001c0001t0004g0060 a0001c0001t0008g0065 a0001c0002t0001g0036 others(2): Show a0001c0001t0004g0060 a0001c0001t0008g0065 a0001c0002t0001g0036 a0001c0003t0010g0052 a0001c0008t0005g0081	5	102	0.0490	15	c.188 others(36): Show c.1889+41214_1889+41228dupAAAAAAAAAAAAAAA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117048963	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03540.hp1 HG02615.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0014 a0001c0003t0007 a0001c0003t0014	a0001c0003t0007g0071 a0001c0003t0014g0083 a0001c0003t0007g0071 a0001c0003t0014g0083	2	102	0.0196	15	c.127 others(34): Show c.1277-9013_1277-8999dupAAAAAAAAAAAAAAA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117215472	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	102	0.0098	15	c.631 others(30): Show c.631-731_631-730insTATATATATATATAT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	2/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117374369	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03130.hp2 HG02886.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0005 a0001c0001t0001 a0001c0008t0005	a0001c0001t0001g0100 a0001c0008t0005g0081 a0001c0001t0001g0100 a0001c0008t0005g0081	2	102	0.0196	15	c.442 others(34): Show c.442+40113_442+40127dupTTTTTTTTTTTTTTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22						chr9	TogoVar
ASXL1_chr20_32353331_32444319	32398603	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	282	0.0036	15	c.252 others(34): Show c.252+29491_252+29492insTGTTTTTTTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32418809	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA19043.hp1 NA18978.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0145 a0001c0001t0001g0146	2	282	0.0071	15	c.253 others(32): Show c.253-9292_253-9278dupTTTTTTTTTTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL2_chr2_25728753_25883487	25786243	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00621.hp2 HG02145.hp1 others(5): Show HG00423.hp1 HG00621.hp2 HG02145.hp1 HG02602.hp2 HG03041.hp1 HG03516.hp2 NA18977.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0019 a0001c0001t0023 a0001c0008t0030	a0001c0001t0001g0085 a0001c0001t0001g0148 a0001c0001t0001g0187 others(5): Show a0001c0001t0001g0085 a0001c0001t0001g0148 a0001c0001t0001g0187 a0001c0001t0004g0170 a0001c0001t0010g0211 a0001c0001t0019g0219 a0001c0001t0023g0188 a0001c0008t0030g0093	8	222	0.0360	15	c.403 others(34): Show c.403+13127_403+13141dupAAAAAAAAAAAAAAA		ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	5/12						chr2	TogoVar
ASXL3_chr18_33573219_33756195	33578458	C C	CCCGCCGC others(8): Show CCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02615.hp1 others(3): Show HG01891.hp1 HG02258.hp1 HG02615.hp1 HG02647.hp2 HG03471.hp2 NA19043.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0070 a0001c0001t0071 a0001c0001t0075 others(3): Show a0001c0001t0070 a0001c0001t0071 a0001c0001t0075 a0003c0003t0073 a0003c0003t0074 a0004c0004t0072	a0001c0001t0070g0214 a0001c0001t0071g0118 a0001c0001t0075g0184 others(3): Show a0001c0001t0070g0214 a0001c0001t0071g0118 a0001c0001t0075g0184 a0003c0003t0073g0009 a0003c0003t0074g0173 a0004c0004t0072g0177	6	220	0.0273	15	c.-14 others(24): Show c.-147_-133dupGCCGCCGCCGCCGCC		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/12				132	INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33590111	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02965.hp2 HG03516.hp1 others(1): Show HG02895.hp2 HG02965.hp2 HG03516.hp1 NA18906.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0002c0006 others(1): Show a0001c0001 a0002c0002 a0002c0006 a0004c0004	a0001c0001t0012 a0002c0002t0018 a0002c0006t0009 others(1): Show a0001c0001t0012 a0002c0002t0018 a0002c0006t0009 a0004c0004t0078	a0001c0001t0012g0015 a0002c0002t0018g0181 a0002c0006t0009g0030 others(1): Show a0001c0001t0012g0015 a0002c0002t0018g0181 a0002c0006t0009g0030 a0004c0004t0078g0215	4	220	0.0182	15	c.54+ others(32): Show c.54+11431_54+11445dupTTTTTTTTTTTTTTT		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASXL3_chr18_33573219_33756195	33676222	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA21309.hp1 HG03098.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0038 a0003c0003t0031 a0001c0001t0038 a0003c0003t0031	a0001c0001t0038g0183 a0003c0003t0031g0174 a0001c0001t0038g0183 a0003c0003t0031g0174	2	220	0.0091	15	c.715 others(32): Show c.715+4367_715+4381dupAAAAAAAAAAAAAAA		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
ASZ1_chr7_117358222_117432493	117387307	T T	TCAACAAC others(8): Show TCAACAACAACAACAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	306	0.0033	15	c.441 others(32): Show c.441-1513_441-1499dupTTGTTGTTGTTGTTG		ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	4/12						chr7	TogoVar
ATAD1_chr10_87746512_87823226	87819263	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02630.hp2 HG02280.hp1 HG02451.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0110 a0001c0001t0003g0106 a0001c0001t0003g0108 a0001c0001t0003g0110	3	360	0.0083	15	c.-11 others(26): Show c.-1125_-1111dupTTTTTTTTTTTTTTT		ATAD1	ENSG00000138138.14	transcript	ENST00000680024.1	protein_coding					1038		chr10	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(8): Show AAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 NA18522.hp2 HG03209.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0143 a0001c0001t0001g0145	2	246	0.0081	15	c.66 others(26): Show c.6623_*6624insCCTTCCTTCCTTCCT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding					3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23862401	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	246	0.0041	15	c.147 others(32): Show c.1479+965_1479+979dupAAAAAAAAAAAAAAA		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	12/27						chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878010	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03453.hp2 HG02922.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0006 a0002c0003t0003 a0002c0003t0006	a0002c0003t0003g0138 a0002c0003t0006g0136 a0002c0003t0003g0138 a0002c0003t0006g0136	2	246	0.0081	15	c.902 others(32): Show c.902-2107_902-2106insTTTTTTTTTTTTTTT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27						chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03239.hp1 NA18943.hp2 others(3): Show HG00741.hp1 HG03239.hp1 NA18943.hp2 NA18949.hp1 NA19011.hp1 NA19083.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0014 a0001c0001 a0009c0014	a0001c0001t0002 a0009c0014t0002 a0001c0001t0002 a0009c0014t0002	a0001c0001t0002g0008 a0001c0001t0002g0030 a0001c0001t0002g0032 others(3): Show a0001c0001t0002g0008 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0037 a0001c0001t0002g0041 a0009c0014t0002g0057	6	246	0.0244	15	c.902 others(32): Show c.902-2136_902-2122dupCTTTTTTTTTTTTTT		ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27						chr2	TogoVar

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