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
ASB18_chr2_236188459_236269406	236188826	A A	ATTTTTTT others(2): Show ATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02559.hp1 HG02615.hp1 others(2): Show HG01099.hp1 HG02559.hp1 HG02615.hp1 HG02895.hp1 HG03209.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0004 a0004c0006 a0002c0002 a0003c0004 a0004c0006	a0002c0002t0006 a0003c0004t0012 a0004c0006t0008 others(1): Show a0002c0002t0006 a0003c0004t0012 a0004c0006t0008 a0004c0006t0009	a0002c0002t0006g0020 a0002c0002t0006g0021 a0003c0004t0012g0225 others(2): Show a0002c0002t0006g0020 a0002c0002t0006g0021 a0003c0004t0012g0225 a0004c0006t0008g0079 a0004c0006t0009g0096	5	250	0.0200	9	c.60 others(20): Show c.6045_*6046insAAAAAAAAA		ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding					4632		chr2	TogoVar
ASB18_chr2_236188459_236269406	236246346	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02717.hp2 others(8): Show HG01884.hp1 HG02258.hp2 HG02717.hp2 HG02723.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03540.hp1 HG03834.hp2 NA19043.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0012c0020	a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0005 a0001c0008t0003 a0012c0020t0009	a0001c0001t0001g0203 a0001c0003t0001g0011 a0001c0003t0001g0093 others(7): Show a0001c0001t0001g0203 a0001c0003t0001g0011 a0001c0003t0001g0093 a0001c0003t0005g0002 a0001c0003t0005g0023 a0001c0003t0005g0027 a0001c0003t0005g0215 a0001c0003t0005g0216 a0001c0008t0003g0026 a0012c0020t0009g0015	11	250	0.0440	9	c.206 others(26): Show c.206-4953_206-4945dupTTTTTTTTT		ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	1/5						chr2	TogoVar
ASB1_chr2_238421927_238457250	238438199	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00408.hp2 others(89): Show HG00099.hp1 HG00323.hp1 HG00408.hp2 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01069.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03490.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp2 HG04199.hp1 HG04204.hp2 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18952.hp2 NA18956.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19012.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19067.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0002c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0001t0028 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0004t0006 a0001c0004t0012 a0001c0006t0006 a0002c0005t0006	a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0018 others(46): Show a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0082 a0001c0001t0002g0095 a0001c0001t0003g0120 a0001c0001t0003g0127 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0004g0029 a0001c0001t0004g0048 a0001c0001t0004g0053 a0001c0001t0004g0065 a0001c0001t0008g0161 a0001c0001t0009g0013 a0001c0001t0009g0097 a0001c0001t0009g0098 a0001c0001t0017g0002 a0001c0001t0018g0006 a0001c0001t0020g0080 a0001c0001t0024g0121 a0001c0001t0028g0143 a0001c0001t0042g0056 a0001c0001t0043g0081 a0001c0001t0044g0002 a0001c0004t0006g0014 a0001c0004t0012g0014 a0001c0006t0006g0134 a0001c0006t0006g0135 a0002c0005t0006g0014 a0002c0005t0006g0034 a0002c0005t0006g0133 a0002c0005t0006g0154	92	416	0.2212	9	c.494 others(26): Show c.494+2196_494+2204dupTTTTTTTTT		ASB1	ENSG00000065802.12	transcript	ENST00000264607.9	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
ASB4_chr7_95480943_95545233	95530105	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01261.hp1 HG02738.hp2 others(3): Show HG00621.hp2 HG01261.hp1 HG02738.hp2 HG04115.hp1 NA18944.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0017 a0001c0001t0001 a0001c0001t0014 a0001c0001t0017	a0001c0001t0001g0181 a0001c0001t0001g0210 a0001c0001t0001g0222 others(3): Show a0001c0001t0001g0181 a0001c0001t0001g0210 a0001c0001t0001g0222 a0001c0001t0001g0244 a0001c0001t0014g0098 a0001c0001t0017g0291	6	388	0.0155	9	c.978 others(26): Show c.978+1809_978+1817dupAAAAAAAAA		ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB5_chr4_176208673_176274222	176219593	T T	TATTTGTA others(2): Show TATTTGTATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00639.hp2 others(19): Show HG00280.hp1 HG00323.hp2 HG00639.hp2 HG00735.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp2 HG01496.hp1 HG01928.hp2 HG01952.hp2 HG02004.hp2 HG02738.hp2 HG03834.hp2 HG03942.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0003 a0001c0002t0013 a0001c0006t0003 a0001c0002t0003 a0001c0002t0013 a0001c0006t0003	a0001c0002t0003g0004 a0001c0002t0003g0018 a0001c0002t0003g0043 others(16): Show a0001c0002t0003g0004 a0001c0002t0003g0018 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0056 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0099 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0013g0233 a0001c0006t0003g0017	22	410	0.0537	9	c.670 others(26): Show c.670+1561_670+1562insCATACAAAT		ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6						chr4	TogoVar
ASB7_chr15_100597589_100656701	100600551	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(79): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp1 HG00733.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02109.hp2 HG02280.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp2 NA18956.hp2 NA18957.hp2 NA18977.hp1 NA18981.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19043.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0008 a0001c0001 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0026 a0001c0006t0002 a0001c0008t0002	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 others(71): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0012 a0001c0001t0002g0052 a0001c0001t0002g0108 a0001c0001t0002g0121 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0143 a0001c0001t0002g0154 a0001c0001t0002g0161 a0001c0001t0002g0177 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0191 a0001c0001t0002g0206 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0288 a0001c0001t0002g0293 a0001c0001t0003g0003 a0001c0001t0003g0120 a0001c0001t0003g0165 a0001c0001t0003g0260 a0001c0001t0003g0262 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0004g0006 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0153 a0001c0001t0005g0010 a0001c0001t0005g0033 a0001c0001t0005g0287 a0001c0001t0005g0312 a0001c0001t0009g0031 a0001c0001t0009g0284 a0001c0001t0011g0171 a0001c0001t0012g0186 a0001c0001t0012g0272 a0001c0001t0026g0264 a0001c0006t0002g0014 a0001c0008t0002g0311	82	368	0.2228	9	c.-27 others(20): Show c.-2768_-2767insAAAAAAAAA		ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding					2037		chr15	TogoVar
ASB7_chr15_100597589_100656701	100600551	C C	CCAAAAAA others(2): Show CCAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02280.hp1 HG02723.hp1 others(3): Show HG01243.hp2 HG02280.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014	a0001c0001t0002g0122 a0001c0001t0002g0207 a0001c0001t0004g0123 others(3): Show a0001c0001t0002g0122 a0001c0001t0002g0207 a0001c0001t0004g0123 a0001c0001t0008g0170 a0001c0001t0014g0208 a0001c0001t0014g0209	6	368	0.0163	9	c.-27 others(20): Show c.-2768_-2767insCAAAAAAAA		ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding					2037		chr15	TogoVar
ASB8_chr12_48142789_48162515	48158545	T T	TTTATTAT others(2): Show TTTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(131): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp2 HG02027.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18946.hp2 NA18949.hp1 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18972.hp1 NA18973.hp1 NA18979.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA19005.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19055.hp1 NA19056.hp2 NA19059.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19080.hp2 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0021 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0036 a0001c0001t0042 a0001c0001t0043 a0001c0004t0019 a0002c0002t0003 a0002c0002t0008	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(74): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0029 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0161 a0001c0001t0002g0205 a0001c0001t0003g0004 a0001c0001t0003g0007 a0001c0001t0003g0035 a0001c0001t0003g0051 a0001c0001t0003g0187 a0001c0001t0004g0014 a0001c0001t0004g0018 a0001c0001t0004g0023 a0001c0001t0004g0100 a0001c0001t0004g0104 a0001c0001t0004g0106 a0001c0001t0004g0173 a0001c0001t0005g0005 a0001c0001t0005g0013 a0001c0001t0005g0079 a0001c0001t0005g0082 a0001c0001t0005g0083 a0001c0001t0005g0084 a0001c0001t0006g0008 a0001c0001t0006g0028 a0001c0001t0006g0138 a0001c0001t0007g0006 a0001c0001t0007g0044 a0001c0001t0007g0204 a0001c0001t0008g0015 a0001c0001t0008g0016 a0001c0001t0008g0037 a0001c0001t0008g0087 a0001c0001t0008g0125 a0001c0001t0008g0126 a0001c0001t0009g0147 a0001c0001t0011g0038 a0001c0001t0011g0040 a0001c0001t0011g0120 a0001c0001t0013g0197 a0001c0001t0014g0030 a0001c0001t0016g0061 a0001c0001t0016g0090 a0001c0001t0016g0098 a0001c0001t0021g0093 a0001c0001t0021g0186 a0001c0001t0028g0121 a0001c0001t0030g0089 a0001c0001t0031g0096 a0001c0001t0032g0124 a0001c0001t0036g0066 a0001c0001t0042g0164 a0001c0001t0043g0160 a0001c0004t0019g0130 a0001c0004t0019g0192 a0002c0002t0003g0026 a0002c0002t0003g0039 a0002c0002t0008g0041	134	450	0.2978	9	c.-11 others(20): Show c.-1129_-1121dupTAATAATAA		ASB8	ENSG00000177981.11	transcript	ENST00000317697.8	protein_coding					1031		chr12	TogoVar
ASCC1_chr10_72091032_72221276	72220325	C C	CAAAAAAA others(2): Show CAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG02970.hp1 others(5): Show HG02615.hp2 HG02895.hp1 HG02970.hp1 HG03098.hp2 HG03486.hp2 HG06807.hp1 NA19043.hp1 NA20300.hp2	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0008	a0001c0001 a0003c0003 a0007c0008 others(1): Show a0001c0001 a0003c0003 a0007c0008 a0008c0007	a0001c0001t0001 a0003c0003t0002 a0007c0008t0002 others(1): Show a0001c0001t0001 a0003c0003t0002 a0007c0008t0002 a0008c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0145 a0001c0001t0001g0146 others(5): Show a0001c0001t0001g0002 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0003c0003t0002g0001 a0007c0008t0002g0164 a0008c0007t0001g0197	8	216	0.0370	9	c.-41 others(20): Show c.-4161_-4153dupTTTTTTTTT		ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding					4050		chr10	TogoVar
ASCC2_chr22_29783611_29843274	29838203	T T	TGCCGCCG others(2): Show TGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01891.hp1 HG02257.hp2 others(6): Show HG01081.hp2 HG01891.hp1 HG02257.hp2 HG02280.hp1 HG03130.hp1 HG03486.hp1 HG06807.hp2 NA18969.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0007 a0001c0001t0009 a0001c0011t0009 a0001c0001t0007 a0001c0001t0009 a0001c0011t0009	a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0007g0040 others(6): Show a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0009g0346 a0001c0001t0009g0347 a0001c0011t0009g0348	9	372	0.0242	9	c.-52 others(16): Show c.-52_-44dupGGCGGCGGC		ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	1/20				5879		chr22	TogoVar
ASCC3_chr6_100503194_100886329	100608258	A A	ATATATAC others(2): Show ATATATACTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG02083.hp2 others(7): Show HG00280.hp2 HG00609.hp2 HG02083.hp2 HG02129.hp1 HG03942.hp2 NA18612.hp2 NA18943.hp1 NA18945.hp2 NA19007.hp1 NA19068.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(7): Show a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 a0001c0006t0005g0164 a0001c0006t0005g0165 a0001c0006t0005g0166 a0001c0006t0005g0167 a0001c0006t0005g0168 a0001c0006t0005g0169 a0001c0006t0005g0170	10	314	0.0319	9	c.478 others(28): Show c.4786-1171_4786-1170insAAGTATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608386	A A	ATATATAT others(2): Show ATATATATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00741.hp2 others(11): Show HG00140.hp1 HG00558.hp2 HG00741.hp2 HG01168.hp2 HG01175.hp1 HG01515.hp1 HG01517.hp1 HG02523.hp2 HG02818.hp2 HG02965.hp2 HG03831.hp1 HG03834.hp2 NA18950.hp1 NA19054.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0002 a0002c0003 a0004c0008 others(1): Show a0001c0002 a0002c0003 a0004c0008 a0009c0036	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0002 a0004c0008t0003 a0009c0036t0002	a0001c0002t0001g0290 a0001c0002t0002g0090 a0001c0002t0003g0125 others(11): Show a0001c0002t0001g0290 a0001c0002t0002g0090 a0001c0002t0003g0125 a0002c0003t0002g0019 a0002c0003t0002g0022 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0039 a0002c0003t0002g0054 a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0003t0002g0159 a0004c0008t0003g0055 a0009c0036t0002g0049	14	314	0.0446	9	c.478 others(28): Show c.4786-1299_4786-1298insAAATATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608401	A A	ATATATAT others(2): Show ATATATATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00558.hp2 HG00741.hp2 others(10): Show HG00140.hp1 HG00558.hp2 HG00741.hp2 HG01168.hp2 HG01175.hp1 HG01515.hp1 HG01517.hp1 HG02818.hp2 HG02965.hp2 HG03831.hp1 HG03834.hp2 NA18950.hp1 NA19054.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0002 a0002c0003 a0004c0008 others(1): Show a0001c0002 a0002c0003 a0004c0008 a0009c0036	a0001c0002t0001 a0001c0002t0002 a0002c0003t0002 others(2): Show a0001c0002t0001 a0001c0002t0002 a0002c0003t0002 a0004c0008t0003 a0009c0036t0002	a0001c0002t0001g0290 a0001c0002t0002g0090 a0002c0003t0002g0019 others(10): Show a0001c0002t0001g0290 a0001c0002t0002g0090 a0002c0003t0002g0019 a0002c0003t0002g0022 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0039 a0002c0003t0002g0054 a0002c0003t0002g0157 a0002c0003t0002g0158 a0002c0003t0002g0159 a0004c0008t0003g0055 a0009c0036t0002g0049	13	314	0.0414	9	c.478 others(28): Show c.4786-1314_4786-1313insAAATATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608608	A A	ATATATAC others(2): Show ATATATACCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG03516.hp1 others(2): Show HG02615.hp1 HG02809.hp2 HG03516.hp1 HG03579.hp2 NA18612.hp2	a0001 a0007 a0018 a0001 a0007 a0018	a0001c0006 a0007c0012 a0007c0025 others(1): Show a0001c0006 a0007c0012 a0007c0025 a0018c0032	a0001c0006t0005 a0007c0012t0009 a0007c0025t0017 others(1): Show a0001c0006t0005 a0007c0012t0009 a0007c0025t0017 a0018c0032t0019	a0001c0006t0005g0161 a0007c0012t0009g0312 a0007c0012t0009g0313 others(2): Show a0001c0006t0005g0161 a0007c0012t0009g0312 a0007c0012t0009g0313 a0007c0025t0017g0227 a0018c0032t0019g0314	5	314	0.0159	9	c.478 others(28): Show c.4786-1521_4786-1520insAGGTATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608636	A A	ATATATAC others(2): Show ATATATACCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG02129.hp1 others(10): Show HG00280.hp2 HG00609.hp2 HG02129.hp1 HG02615.hp1 HG02809.hp2 HG03516.hp1 HG03579.hp2 HG03942.hp2 NA18612.hp2 NA18943.hp1 NA18945.hp2 NA19007.hp1 NA19068.hp1	a0001 a0007 a0018 a0001 a0007 a0018	a0001c0006 a0007c0012 a0007c0025 others(1): Show a0001c0006 a0007c0012 a0007c0025 a0018c0032	a0001c0006t0005 a0007c0012t0009 a0007c0025t0017 others(1): Show a0001c0006t0005 a0007c0012t0009 a0007c0025t0017 a0018c0032t0019	a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 others(10): Show a0001c0006t0005g0161 a0001c0006t0005g0162 a0001c0006t0005g0163 a0001c0006t0005g0164 a0001c0006t0005g0165 a0001c0006t0005g0166 a0001c0006t0005g0167 a0001c0006t0005g0169 a0001c0006t0005g0170 a0007c0012t0009g0312 a0007c0012t0009g0313 a0007c0025t0017g0227 a0018c0032t0019g0314	13	314	0.0414	9	c.478 others(28): Show c.4786-1549_4786-1548insAGGTATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608664	A A	ATATATAC others(2): Show ATATATACCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG03516.hp1 others(1): Show HG02615.hp1 HG02809.hp2 HG03516.hp1 HG03579.hp2	a0007 a0018 a0007 a0018	a0007c0012 a0007c0025 a0018c0032 a0007c0012 a0007c0025 a0018c0032	a0007c0012t0009 a0007c0025t0017 a0018c0032t0019 a0007c0012t0009 a0007c0025t0017 a0018c0032t0019	a0007c0012t0009g0312 a0007c0012t0009g0313 a0007c0025t0017g0227 others(1): Show a0007c0012t0009g0312 a0007c0012t0009g0313 a0007c0025t0017g0227 a0018c0032t0019g0314	4	314	0.0127	9	c.478 others(28): Show c.4786-1577_4786-1576insAGGTATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100723902	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02071.hp2 HG03831.hp2 others(2): Show HG01978.hp2 HG02071.hp2 HG03831.hp2 HG04184.hp2 NA19002.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0175 a0003c0004t0004g0176 a0003c0004t0004g0180 others(2): Show a0003c0004t0004g0175 a0003c0004t0004g0176 a0003c0004t0004g0180 a0003c0004t0004g0184 a0003c0004t0004g0191	5	314	0.0159	9	c.190 others(28): Show c.1902+1636_1902+1637insATATATATA		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	11/41						chr6	TogoVar
ASCC3_chr6_100503194_100886329	100727649	T T	TAACAACA others(2): Show TAACAACAAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01192.hp1 HG02040.hp1 others(3): Show HG01071.hp1 HG01192.hp1 HG02040.hp1 HG03710.hp2 NA18966.hp1 NA19060.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0003 a0003c0005 a0004c0008 a0002c0003 a0003c0005 a0004c0008	a0002c0003t0002 a0003c0005t0002 a0004c0008t0003 a0002c0003t0002 a0003c0005t0002 a0004c0008t0003	a0002c0003t0002g0006 a0002c0003t0002g0042 a0002c0003t0002g0068 others(3): Show a0002c0003t0002g0006 a0002c0003t0002g0042 a0002c0003t0002g0068 a0003c0005t0002g0131 a0003c0005t0002g0151 a0004c0008t0003g0057	6	314	0.0191	9	c.173 others(28): Show c.1738-1955_1738-1947dupGTTGTTGTT		ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	10/41						chr6	TogoVar
ASCL1_chr12_102952674_102965513	102958393	C C	CGCAGCAG others(2): Show CGCAGCAGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00558.hp1 HG00558.hp2 HG01257.hp1 others(37): Show HG00558.hp1 HG00558.hp2 HG01257.hp1 HG01934.hp1 HG01934.hp2 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02486.hp1 HG02818.hp2 HG02886.hp2 HG03098.hp1 HG03491.hp1 HG03579.hp2 HG04115.hp1 NA18522.hp2 NA18941.hp1 NA18943.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18961.hp1 NA18962.hp2 NA18969.hp2 NA18977.hp1 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18993.hp1 NA19006.hp2 NA19012.hp1 NA19054.hp2 NA19058.hp2 NA19066.hp1 NA19077.hp2 NA19078.hp1 NA19084.hp2 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 others(3): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0004 a0003c0003t0008 a0003c0003t0016 a0003c0003t0020	a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0004g0001 others(3): Show a0003c0003t0001g0001 a0003c0003t0002g0001 a0003c0003t0004g0001 a0003c0003t0008g0001 a0003c0003t0016g0001 a0003c0003t0020g0001	40	354	0.1130	9	c.178 others(16): Show c.178_186dupCAGCAGCAG	p.Gln others(11): Show p.Gln60_Gln62dup	ASCL1	ENSG00000139352.4	transcript	ENST00000266744.4	protein_coding	1/2	758/2481	187/711	63/236		INFO_REALIGN_3_PRIME	chr12	TogoVar
ASCL4_chr12_107769704_107781644	107773043	A A	AAATAATA others(2): Show AAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00621.hp1 others(43): Show HG00099.hp1 HG00438.hp1 HG00621.hp1 HG00642.hp2 HG01099.hp2 HG01109.hp1 HG01256.hp2 HG01516.hp2 HG01884.hp1 HG02015.hp1 HG02027.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02647.hp2 HG02818.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03927.hp1 HG04184.hp2 NA18522.hp2 NA18906.hp1 NA18942.hp2 NA18946.hp1 NA18954.hp2 NA18964.hp2 NA18966.hp2 NA18976.hp2 NA19030.hp2 NA19056.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0004t0002 a0002c0002t0003	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 others(7): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0006g0000 a0001c0001t0008g0000 a0001c0001t0011g0000 a0001c0001t0017g0000 a0001c0001t0018g0000 a0001c0004t0002g0000 a0002c0002t0003g0000	46	462	0.0996	9	c.-21 others(20): Show c.-2176_-2175insAATAATAAT		ASCL4	ENSG00000187855.6	transcript	ENST00000342331.5	protein_coding					1660		chr12	TogoVar
ASGR2_chr17_7096326_7119822	7104348	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18964.hp2 NA18970.hp2 others(5): Show NA18961.hp1 NA18964.hp2 NA18970.hp2 NA18992.hp2 NA18997.hp1 NA19006.hp2 NA19030.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0103 a0001c0001t0003g0049 a0001c0001t0004g0303 others(4): Show a0001c0001t0002g0103 a0001c0001t0003g0049 a0001c0001t0004g0303 a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0315	8	432	0.0185	9	c.649 others(26): Show c.649-2161_649-2153dupTTTTTTTTT		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding	7/8						chr17	TogoVar
ASGR2_chr17_7096326_7119822	7118496	G G	GGAGGGAA others(2): Show GGAGGGAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02080.hp2 NA18943.hp1 others(10): Show HG00597.hp1 HG02080.hp2 NA18943.hp1 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18968.hp1 NA18992.hp2 NA18997.hp1 NA19005.hp2 NA19006.hp2 NA19072.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0020 a0001c0001t0004g0303 a0001c0001t0004g0304 others(10): Show a0001c0001t0004g0020 a0001c0001t0004g0303 a0001c0001t0004g0304 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0310 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0002t0004g0302	13	432	0.0301	9	c.-39 others(20): Show c.-3953_-3952insTCTTCCCTC		ASGR2	ENSG00000161944.17	transcript	ENST00000691900.1	protein_coding					3675		chr17	TogoVar
ASIC1_chr12_50052596_50088611	50071266	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02559.hp1 HG02622.hp1 others(6): Show HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02723.hp1 HG02922.hp2 HG03209.hp1 HG03471.hp2 NA18906.hp1 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0001 a0001c0003t0004	a0001c0003t0001g0028 a0001c0003t0001g0068 a0001c0003t0001g0069 others(5): Show a0001c0003t0001g0028 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0071 a0001c0003t0001g0165 a0001c0003t0004g0063 a0001c0003t0004g0064 a0001c0003t0004g0070	9	324	0.0278	9	c.559 others(26): Show c.559-5937_559-5929dupTTTTTTTTT		ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	3/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIC1_chr12_50052596_50088611	50086481	G G	GGTGGTGG others(2): Show GGTGGTGGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02572.hp2 others(11): Show HG01109.hp1 HG02109.hp2 HG02572.hp2 HG02630.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA18522.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0001 a0001c0004t0001 a0001c0004t0006 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0006 a0001c0010t0001	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0050 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0050 a0001c0004t0001g0052 a0001c0004t0001g0111 a0001c0004t0001g0112 a0001c0004t0001g0113 a0001c0004t0001g0120 a0001c0004t0006g0038 a0001c0004t0006g0137 a0001c0010t0001g0096	14	324	0.0432	9	c.48 others(20): Show c.4832_*4833insGTGGTGGTA		ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding					2871		chr12	TogoVar
ASMT_chrX_1610059_1648081	1610474	A A	AAAATAAA others(2): Show AAAATAAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0193 a0001c0003t0001g0193	1	223	0.0045	9	c.-47 others(20): Show c.-4726_-4725insAAATAAATG		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding					4584		chrX	TogoVar
ASMT_chrX_1610059_1648081	1612949	A A	AGGATTTC others(2): Show AGGATTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0222 a0002c0002t0001g0222	1	223	0.0045	9	c.-22 others(20): Show c.-2251_-2250insGGATTTCTT		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding					2109		chrX	TogoVar
ASMT_chrX_1610059_1648081	1619549	T T	TATAATAA others(2): Show TATAATAATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02109.hp1 others(6): Show HG01891.hp1 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02602.hp2 HG02723.hp1 HG03516.hp2 HG06807.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0014 a0001c0001t0001g0118 a0001c0001t0001g0205 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0118 a0001c0001t0001g0205 a0001c0001t0001g0212 a0001c0001t0002g0164 a0001c0003t0001g0022 a0002c0002t0001g0069 a0002c0002t0001g0208 a0002c0002t0002g0160	9	223	0.0404	9	c.70- others(24): Show c.70-3558_70-3550dupTAATAATAA		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1619587	T T	TAATAATA others(2): Show TAATAATAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03453.hp2 HG03540.hp1 HG02622.hp1 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0072 a0001c0001t0001g0214 a0001c0001t0001g0006 a0001c0001t0001g0072 a0001c0001t0001g0214	3	223	0.0135	9	c.70- others(24): Show c.70-3550_70-3549insTAATAAAAA		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1619591	A A	AAAAAAAA others(2): Show AAAAAAAAGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG02818.hp2 others(4): Show HG01884.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG03041.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0071 a0001c0001t0001g0123 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0071 a0001c0001t0001g0123 a0001c0001t0001g0211 a0001c0001t0001g0215 a0001c0001t0003g0090 a0002c0002t0001g0009	7	223	0.0314	9	c.70- others(24): Show c.70-3547_70-3546insAAAAAAGTA		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
ASMT_chrX_1610059_1648081	1644219	T T	TTTATTAT others(2): Show TTTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG01071.hp1 others(18): Show HG00639.hp2 HG01070.hp1 HG01071.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG02293.hp2 HG02523.hp2 HG02818.hp1 HG02818.hp2 HG02896.hp1 HG03041.hp1 HG03041.hp2 HG03669.hp2 HG03831.hp1 HG03927.hp2 NA18941.hp1 NA18968.hp1 NA18974.hp1 NA19072.hp2 NA19081.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0011	a0001c0001 a0002c0002 a0002c0006 others(2): Show a0001c0001 a0002c0002 a0002c0006 a0010c0015 a0011c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0006t0001 a0010c0015t0002 a0011c0008t0001	a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0047 others(18): Show a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0121 a0001c0001t0001g0211 a0001c0001t0002g0120 a0001c0001t0003g0090 a0002c0002t0001g0054 a0002c0002t0001g0098 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0127 a0002c0002t0002g0112 a0002c0002t0002g0154 a0002c0002t0002g0186 a0002c0006t0001g0104 a0010c0015t0002g0179 a0011c0008t0001g0034	21	223	0.0942	9	c.12 others(20): Show c.1205_*1206insTTATTATTA		ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding					1139		chrX	TogoVar
ASPA_chr17_3470997_3508405	3490306	A A	ATTTATTT others(2): Show ATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18747.hp1 NA18948.hp2 others(6): Show HG02071.hp1 NA18747.hp1 NA18948.hp2 NA18966.hp2 NA18999.hp2 NA19011.hp1 NA19012.hp1 NA19080.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0009 a0001c0001t0001g0071 a0001c0001t0001g0153 others(3): Show a0001c0001t0001g0009 a0001c0001t0001g0071 a0001c0001t0001g0153 a0001c0001t0001g0295 a0001c0001t0001g0333 a0001c0003t0002g0022	9	450	0.0200	9	c.634 others(24): Show c.634+964_634+965insTTTATTTAT		ASPA	ENSG00000108381.11	transcript	ENST00000263080.3	protein_coding	4/5						chr17	TogoVar
ASPDH_chr19_50506603_50518913	50510051	C C	CAAAAAAA others(2): Show CAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(137): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01081.hp1 HG01167.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA19081.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0001c0008 others(4): Show a0001c0001 a0001c0005 a0001c0008 a0002c0002 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0001 a0001c0005t0001 a0001c0008t0001 others(4): Show a0001c0001t0001 a0001c0005t0001 a0001c0008t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0005t0001g0016 a0001c0008t0001g0022 a0002c0002t0001g0002 a0003c0003t0001g0005 a0003c0003t0001g0011 a0003c0003t0001g0026 a0004c0004t0001g0010 a0005c0006t0001g0018	140	372	0.3763	9	c.16 others(20): Show c.1670_*1678dupTTTTTTTTT		ASPDH	ENSG00000204653.10	transcript	ENST00000389208.9	protein_coding					1551		chr19	TogoVar
ASPH_chr8_61495556_61719592	61706457	G G	GGAAGAGG others(2): Show GGAAGAGGAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp1 HG02976.hp1 others(1): Show HG02145.hp1 HG02451.hp1 HG02976.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0001t0001 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0193 a0001c0001t0007g0191 a0001c0001t0007g0192 others(1): Show a0001c0001t0001g0193 a0001c0001t0007g0191 a0001c0001t0007g0192 a0001c0002t0002g0194	4	258	0.0155	9	c.103 others(26): Show c.103+7811_103+7812insTTCCTCTTC		ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	1/24						chr8	TogoVar
ASPRV1_chr2_69955089_69966631	69956451	G G	GGAAGAAG others(2): Show GGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02970.hp1 NA21309.hp1 HG01243.hp2 HG02970.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0000 a0001c0001t0006g0000 a0001c0001t0005g0000 a0001c0001t0006g0000	3	464	0.0065	9	c.42 others(20): Show c.4205_*4206insTTCTTCTTC		ASPRV1	ENSG00000244617.3	transcript	ENST00000320256.6	protein_coding					3637		chr2	TogoVar
ASTN2_chr9_116418112_117420057	116642132	C C	CCAAAAAA others(2): Show CCAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp2 HG01884.hp2 HG02965.hp2	a0001 a0001	a0001c0014 a0001c0025 a0001c0014 a0001c0025	a0001c0014t0017 a0001c0025t0001 a0001c0014t0017 a0001c0025t0001	a0001c0014t0017g0050 a0001c0025t0001g0080 a0001c0014t0017g0050 a0001c0025t0001g0080	2	102	0.0196	9	c.307 others(28): Show c.3072+9395_3072+9396insTTTTTTTTG		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	17/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116790970	A A	AAGAAAGA others(2): Show AAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01884.hp2 HG03017.hp1 others(2): Show HG01256.hp1 HG01884.hp2 HG03017.hp1 HG03130.hp1 NA19012.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0021 others(2): Show a0001c0001 a0001c0002 a0001c0021 a0001c0025 a0004c0024	a0001c0001t0001 a0001c0002t0004 a0001c0021t0006 others(2): Show a0001c0001t0001 a0001c0002t0004 a0001c0021t0006 a0001c0025t0001 a0004c0024t0013	a0001c0001t0001g0054 a0001c0002t0004g0043 a0001c0021t0006g0056 others(2): Show a0001c0001t0001g0054 a0001c0002t0004g0043 a0001c0021t0006g0056 a0001c0025t0001g0080 a0004c0024t0013g0101	5	102	0.0490	9	c.239 others(30): Show c.2396+14661_2396+14662insCTTCTTTCT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116790974	A A	AAGAAAGA others(2): Show AAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA19010.hp2 HG01261.hp1 NA19010.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0005c0015 a0001c0005 a0005c0015	a0001c0005t0005 a0005c0015t0003 a0001c0005t0005 a0005c0015t0003	a0001c0005t0005g0076 a0005c0015t0003g0019 a0001c0005t0005g0076 a0005c0015t0003g0019	2	102	0.0196	9	c.239 others(30): Show c.2396+14657_2396+14658insCTTCTTTCT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	13/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116815804	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp2 HG01256.hp2 others(9): Show HG00639.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01496.hp2 HG02109.hp1 HG03130.hp1 HG03239.hp2 HG04199.hp2 NA19030.hp1 NA19065.hp1 NA19066.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0003 a0001c0021 others(2): Show a0001c0002 a0001c0003 a0001c0021 a0001c0022 a0006c0020	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0001 a0001c0021t0006 a0001c0022t0001 a0006c0020t0001	a0001c0002t0001g0036 a0001c0002t0001g0057 a0001c0002t0002g0023 others(9): Show a0001c0002t0001g0036 a0001c0002t0001g0057 a0001c0002t0002g0023 a0001c0002t0002g0053 a0001c0002t0003g0022 a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0004g0092 a0001c0003t0001g0038 a0001c0021t0006g0056 a0001c0022t0001g0020 a0006c0020t0001g0039	12	102	0.1177	9	c.220 others(28): Show c.2207+4804_2207+4812dupTTTTTTTTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116815816	A A	AAAAAAAA others(2): Show AAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02572.hp1 HG02615.hp1 others(1): Show HG02451.hp1 HG02572.hp1 HG02615.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0002t0001 a0001c0003t0007 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0007 a0001c0013t0009	a0001c0001t0001g0028 a0001c0002t0001g0033 a0001c0003t0007g0071 others(1): Show a0001c0001t0001g0028 a0001c0002t0001g0033 a0001c0003t0007g0071 a0001c0013t0009g0072	4	102	0.0392	9	c.220 others(28): Show c.2207+4800_2207+4801insGTTTTTTTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	12/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	116941167	A A	AACTGAGG others(2): Show AACTGAGGAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01099.hp1 others(28): Show HG00099.hp2 HG01081.hp2 HG01099.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01891.hp2 HG01934.hp1 HG02004.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02698.hp2 HG02886.hp1 HG02896.hp2 HG02965.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03471.hp2 HG03540.hp1 HG03540.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0017 a0002c0004 a0007c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0004 a0001c0003t0007 a0001c0003t0014 a0001c0006t0002 a0001c0008t0005 a0001c0009t0008 a0001c0010t0004 a0001c0011t0004 a0001c0013t0009 a0001c0014t0017 a0001c0017t0002 a0002c0004t0001 a0007c0018t0003	a0001c0001t0001g0028 a0001c0001t0003g0013 a0001c0001t0004g0060 others(28): Show a0001c0001t0001g0028 a0001c0001t0003g0013 a0001c0001t0004g0060 a0001c0001t0005g0096 a0001c0001t0006g0079 a0001c0001t0007g0078 a0001c0001t0007g0087 a0001c0001t0008g0065 a0001c0002t0001g0042 a0001c0002t0001g0093 a0001c0002t0002g0023 a0001c0002t0002g0046 a0001c0002t0002g0053 a0001c0002t0002g0061 a0001c0002t0003g0068 a0001c0002t0004g0043 a0001c0002t0004g0062 a0001c0002t0004g0091 a0001c0003t0004g0085 a0001c0003t0007g0074 a0001c0003t0014g0083 a0001c0006t0002g0012 a0001c0008t0005g0073 a0001c0009t0008g0088 a0001c0010t0004g0009 a0001c0011t0004g0097 a0001c0013t0009g0072 a0001c0014t0017g0050 a0001c0017t0002g0089 a0002c0004t0001g0004 a0007c0018t0003g0031	31	102	0.3039	9	c.188 others(30): Show c.1889+34032_1889+34040dupATCCTCAGT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117016778	A A	ATATATAG others(2): Show ATATATAGGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19011.hp2 NA19066.hp2 HG03130.hp1 NA19011.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0021 a0001c0002 a0001c0009 a0001c0021	a0001c0002t0002 a0001c0009t0004 a0001c0021t0006 a0001c0002t0002 a0001c0009t0004 a0001c0021t0006	a0001c0002t0002g0059 a0001c0009t0004g0032 a0001c0021t0006g0056 a0001c0002t0002g0059 a0001c0009t0004g0032 a0001c0021t0006g0056	3	102	0.0294	9	c.142 others(28): Show c.1424-8520_1424-8519insACCTATATA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	6/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117048963	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02004.hp1 HG02109.hp2 others(1): Show HG01261.hp1 HG02004.hp1 HG02109.hp2 HG04199.hp2	a0001 a0006 a0001 a0006	a0001c0002 a0001c0005 a0001c0007 others(1): Show a0001c0002 a0001c0005 a0001c0007 a0006c0020	a0001c0002t0010 a0001c0005t0005 a0001c0007t0001 others(1): Show a0001c0002t0010 a0001c0005t0005 a0001c0007t0001 a0006c0020t0001	a0001c0002t0010g0064 a0001c0005t0005g0076 a0001c0007t0001g0010 others(1): Show a0001c0002t0010g0064 a0001c0005t0005g0076 a0001c0007t0001g0010 a0006c0020t0001g0039	4	102	0.0392	9	c.127 others(28): Show c.1277-9007_1277-8999dupAAAAAAAAA		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117192391	G G	GAAAAAAA others(2): Show GAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG03139.hp1 others(2): Show HG01243.hp1 HG01891.hp1 HG03139.hp1 HG03471.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0001t0016 a0001c0002t0002 others(2): Show a0001c0001t0003 a0001c0001t0016 a0001c0002t0002 a0002c0004t0001 a0002c0004t0006	a0001c0001t0003g0013 a0001c0001t0016g0075 a0001c0002t0002g0061 others(2): Show a0001c0001t0003g0013 a0001c0001t0016g0075 a0001c0002t0002g0061 a0002c0004t0001g0004 a0002c0004t0006g0003	5	102	0.0490	9	c.101 others(30): Show c.1015+21966_1015+21967insTTTTTTTTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	3/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117323356	T T	TACCACCA others(2): Show TACCACCACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp2 HG00735.hp1 others(49): Show HG00099.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01099.hp1 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01934.hp2 HG02004.hp2 HG02109.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02698.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG04199.hp1 HG04199.hp2 NA18906.hp1 NA18959.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19066.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0014 a0001c0017 a0001c0021 a0001c0023 a0003c0016 a0003c0019 a0004c0024 a0005c0015 a0006c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0010 a0001c0005t0005 a0001c0006t0002 a0001c0007t0001 a0001c0009t0004 a0001c0010t0001 a0001c0010t0004 a0001c0011t0004 a0001c0014t0017 a0001c0017t0002 a0001c0021t0006 a0001c0023t0002 a0003c0016t0004 a0003c0019t0002 a0004c0024t0013 a0005c0015t0003 a0006c0020t0001	a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0054 others(49): Show a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0054 a0001c0001t0002g0018 a0001c0001t0002g0040 a0001c0001t0002g0051 a0001c0001t0003g0063 a0001c0001t0005g0035 a0001c0001t0005g0096 a0001c0001t0006g0014 a0001c0001t0006g0016 a0001c0001t0006g0079 a0001c0001t0007g0087 a0001c0001t0008g0065 a0001c0001t0011g0002 a0001c0001t0015g0045 a0001c0002t0001g0033 a0001c0002t0001g0042 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0067 a0001c0002t0001g0093 a0001c0002t0002g0059 a0001c0002t0003g0022 a0001c0002t0003g0066 a0001c0002t0003g0068 a0001c0002t0003g0094 a0001c0002t0004g0029 a0001c0002t0004g0092 a0001c0003t0004g0085 a0001c0003t0006g0017 a0001c0003t0006g0026 a0001c0003t0007g0074 a0001c0003t0010g0052 a0001c0005t0005g0007 a0001c0005t0005g0048 a0001c0006t0002g0012 a0001c0007t0001g0010 a0001c0007t0001g0011 a0001c0009t0004g0032 a0001c0010t0001g0102 a0001c0010t0004g0009 a0001c0011t0004g0097 a0001c0014t0017g0050 a0001c0017t0002g0089 a0001c0021t0006g0056 a0001c0023t0002g0069 a0003c0016t0004g0027 a0003c0019t0002g0025 a0004c0024t0013g0101 a0005c0015t0003g0019 a0006c0020t0001g0039	52	102	0.5098	9	c.443 others(28): Show c.443-31852_443-31844dupGGTGGTGGT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117346010	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02572.hp1 others(1): Show HG01243.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0008 others(1): Show a0001c0001 a0001c0003 a0001c0008 a0001c0013	a0001c0001t0002 a0001c0003t0007 a0001c0008t0005 others(1): Show a0001c0001t0002 a0001c0003t0007 a0001c0008t0005 a0001c0013t0009	a0001c0001t0002g0070 a0001c0003t0007g0071 a0001c0008t0005g0073 others(1): Show a0001c0001t0002g0070 a0001c0003t0007g0071 a0001c0008t0005g0073 a0001c0013t0009g0072	4	102	0.0392	9	c.443 others(28): Show c.443-54506_443-54498dupTTTTTTTTT		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/22						chr9	TogoVar
ASTN2_chr9_116418112_117420057	117414968	C C	CGGCGGCG others(2): Show CGGCGGCGGT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01884.hp1 HG03209.hp1 HG01884.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0012 a0001c0001t0011 a0001c0003t0012	a0001c0001t0011g0002 a0001c0003t0012g0001 a0001c0001t0011g0002 a0001c0003t0012g0001	2	102	0.0196	9	c.-39 others(16): Show c.-39_-31dupACCGCCGCC		ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	1/23				31		chr9	TogoVar
ASXL1_chr20_32353331_32444319	32401544	G G	GTGTGTGT others(2): Show GTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03098.hp2 HG03225.hp1 others(2): Show HG02895.hp2 HG03098.hp2 HG03225.hp1 NA18522.hp1 NA18906.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0004 a0006c0007t0001 a0006c0007t0004	a0006c0007t0001g0045 a0006c0007t0001g0046 a0006c0007t0001g0047 others(2): Show a0006c0007t0001g0045 a0006c0007t0001g0046 a0006c0007t0001g0047 a0006c0007t0001g0049 a0006c0007t0004g0048	5	282	0.0177	9	c.253 others(28): Show c.253-26583_253-26582insGTGTGTGTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL1_chr20_32353331_32444319	32401544	G G	GTGTGTTT others(2): Show GTGTGTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG03098.hp1 others(1): Show HG01243.hp2 HG02486.hp2 HG03098.hp1 NA19043.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0004 a0001c0008t0001 a0001c0008t0004	a0001c0008t0001g0050 a0001c0008t0001g0052 a0001c0008t0001g0053 others(1): Show a0001c0008t0001g0050 a0001c0008t0001g0052 a0001c0008t0001g0053 a0001c0008t0004g0044	4	282	0.0142	9	c.253 others(28): Show c.253-26583_253-26582insGTGTTTTTT		ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL2_chr2_25728753_25883487	25856363	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp1 HG02109.hp2 others(9): Show HG00438.hp1 HG01243.hp1 HG02109.hp2 HG02148.hp2 HG02572.hp2 HG02630.hp2 HG02647.hp1 HG02738.hp2 HG03516.hp2 HG03540.hp1 HG03831.hp2 HG04204.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0012 a0001c0001t0025 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0025 a0001c0001t0031 a0003c0005t0007	a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0099 others(9): Show a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0099 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0153 a0001c0001t0012g0151 a0001c0001t0012g0161 a0001c0001t0025g0190 a0001c0001t0031g0156 a0003c0005t0007g0154	12	222	0.0541	9	c.58- others(26): Show c.58-10809_58-10801dupAAAAAAAAA		ASXL2	ENSG00000143970.18	transcript	ENST00000435504.9	protein_coding	1/12						chr2	TogoVar
ASXL3_chr18_33573219_33756195	33578458	C C	CCCGCCGC others(2): Show CCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02922.hp2 HG02280.hp1 HG02572.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0028 a0001c0001t0022 a0001c0001t0028	a0001c0001t0022g0076 a0001c0001t0022g0176 a0001c0001t0028g0036 a0001c0001t0022g0076 a0001c0001t0022g0176 a0001c0001t0028g0036	3	220	0.0136	9	c.-14 others(18): Show c.-141_-133dupGCCGCCGCC		ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	1/12				132	INFO_REALIGN_3_PRIME	chr18	TogoVar

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