Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ASB15_chr7_123596821_123644481	123620542	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18967.hp1 HG03209.hp2 NA18967.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0007c0010 a0001c0002 a0007c0010	a0001c0002t0001 a0007c0010t0024 a0001c0002t0001 a0007c0010t0024	a0001c0002t0001g0047 a0007c0010t0024g0126 a0001c0002t0001g0047 a0007c0010t0024g0126	2	380	0.0053	-18	c.451 others(35): Show c.451+2807_451+2824delATATATATATATTTTTTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123620544	ATATATAT others(11): Show ATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0023 a0007c0010t0023	a0007c0010t0023g0125 a0007c0010t0023g0125	1	380	0.0026	-18	c.451 others(35): Show c.451+2809_451+2826delATATATATATTTTTTTTT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123640623	AGGAGAGG others(11): Show AGGAGAGGAGGGGGAGGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(346): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016 a0018	a0001c0001 a0001c0002 a0002c0003 others(15): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0003c0006 a0004c0004 a0005c0007 a0006c0008 a0007c0010 a0008c0009 a0009c0013 a0011c0012 a0012c0020 a0013c0018 a0014c0019 a0015c0016 a0016c0017 a0018c0014	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(78): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 a0001c0002t0022 a0001c0002t0026 a0001c0002t0042 a0001c0002t0043 a0001c0002t0044 a0001c0002t0046 a0001c0002t0049 a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 a0002c0003t0013 a0002c0003t0016 a0002c0003t0017 a0002c0003t0018 a0002c0003t0019 a0002c0003t0041 a0003c0005t0001 a0003c0005t0002 a0003c0006t0005 a0003c0006t0006 a0003c0006t0007 a0003c0006t0009 a0003c0006t0012 a0004c0004t0001 a0004c0004t0002 a0004c0004t0003 a0004c0004t0013 a0004c0004t0018 a0004c0004t0047 a0005c0007t0003 a0005c0007t0004 a0005c0007t0010 a0005c0007t0031 a0006c0008t0003 a0006c0008t0004 a0006c0008t0033 a0007c0010t0023 a0007c0010t0024 a0007c0010t0025 a0008c0009t0001 a0008c0009t0015 a0009c0013t0004 a0009c0013t0011 a0011c0012t0006 a0011c0012t0007 a0012c0020t0009 a0013c0018t0002 a0014c0019t0002 a0015c0016t0039 a0016c0017t0002 a0018c0014t0001	a0001c0001t0002g0001 a0001c0001t0002g0030 a0001c0001t0002g0056 others(336): Show a0001c0001t0002g0001 a0001c0001t0002g0030 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0092 a0001c0001t0002g0123 a0001c0001t0002g0163 a0001c0001t0003g0055 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0136 a0001c0001t0003g0158 a0001c0001t0003g0165 a0001c0001t0003g0175 a0001c0001t0003g0243 a0001c0001t0003g0274 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0344 a0001c0001t0003g0346 a0001c0001t0003g0347 a0001c0001t0004g0009 a0001c0001t0004g0012 a0001c0001t0004g0044 a0001c0001t0004g0088 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0132 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0162 a0001c0001t0004g0241 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0275 a0001c0001t0004g0289 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0348 a0001c0001t0005g0001 a0001c0001t0005g0026 a0001c0001t0005g0033 a0001c0001t0005g0063 a0001c0001t0005g0071 a0001c0001t0005g0074 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0083 a0001c0001t0005g0106 a0001c0001t0005g0114 a0001c0001t0005g0156 a0001c0001t0005g0174 a0001c0001t0005g0292 a0001c0001t0006g0003 a0001c0001t0006g0005 a0001c0001t0006g0032 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0067 a0001c0001t0006g0077 a0001c0001t0006g0084 a0001c0001t0006g0237 a0001c0001t0007g0027 a0001c0001t0007g0040 a0001c0001t0007g0043 a0001c0001t0007g0066 a0001c0001t0007g0075 a0001c0001t0007g0091 a0001c0001t0007g0143 a0001c0001t0008g0267 a0001c0001t0008g0321 a0001c0001t0008g0322 a0001c0001t0008g0324 a0001c0001t0008g0325 a0001c0001t0008g0326 a0001c0001t0008g0327 a0001c0001t0009g0001 a0001c0001t0009g0041 a0001c0001t0009g0073 a0001c0001t0009g0076 a0001c0001t0009g0089 a0001c0001t0009g0094 a0001c0001t0009g0176 a0001c0001t0009g0305 a0001c0001t0010g0039 a0001c0001t0010g0045 a0001c0001t0010g0113 a0001c0001t0010g0287 a0001c0001t0010g0306 a0001c0001t0010g0311 a0001c0001t0010g0314 a0001c0001t0010g0317 a0001c0001t0010g0345 a0001c0001t0011g0012 a0001c0001t0011g0078 a0001c0001t0011g0155 a0001c0001t0011g0161 a0001c0001t0011g0173 a0001c0001t0011g0258 a0001c0001t0011g0273 a0001c0001t0011g0320 a0001c0001t0011g0356 a0001c0001t0012g0060 a0001c0001t0012g0068 a0001c0001t0012g0069 a0001c0001t0012g0070 a0001c0001t0013g0319 a0001c0001t0014g0054 a0001c0001t0014g0062 a0001c0001t0014g0086 a0001c0001t0014g0087 a0001c0001t0014g0297 a0001c0001t0015g0042 a0001c0001t0015g0238 a0001c0001t0017g0006 a0001c0001t0027g0029 a0001c0001t0028g0036 a0001c0001t0029g0018 a0001c0001t0030g0288 a0001c0001t0032g0061 a0001c0001t0034g0081 a0001c0001t0035g0064 a0001c0001t0036g0272 a0001c0001t0037g0244 a0001c0001t0038g0072 a0001c0001t0048g0065 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0134 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0166 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0240 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0349 a0001c0002t0001g0350 a0001c0002t0001g0351 a0001c0002t0001g0352 a0001c0002t0001g0354 a0001c0002t0002g0010 a0001c0002t0002g0017 a0001c0002t0002g0046 a0001c0002t0002g0082 a0001c0002t0002g0168 a0001c0002t0002g0361 a0001c0002t0003g0167 a0001c0002t0015g0360 a0001c0002t0022g0262 a0001c0002t0022g0263 a0001c0002t0026g0340 a0001c0002t0042g0281 a0001c0002t0043g0103 a0001c0002t0044g0264 a0001c0002t0046g0353 a0001c0002t0049g0107 a0002c0003t0001g0206 a0002c0003t0001g0222 a0002c0003t0002g0002 a0002c0003t0002g0016 a0002c0003t0002g0124 a0002c0003t0002g0128 a0002c0003t0002g0130 a0002c0003t0002g0146 a0002c0003t0002g0147 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0188 a0002c0003t0002g0194 a0002c0003t0002g0196 a0002c0003t0002g0197 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0204 a0002c0003t0002g0207 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0212 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0002g0218 a0002c0003t0002g0227 a0002c0003t0002g0228 a0002c0003t0002g0229 a0002c0003t0002g0230 a0002c0003t0002g0255 a0002c0003t0002g0256 a0002c0003t0002g0257 a0002c0003t0002g0261 a0002c0003t0002g0290 a0002c0003t0002g0358 a0002c0003t0008g0133 a0002c0003t0008g0200 a0002c0003t0008g0216 a0002c0003t0008g0217 a0002c0003t0013g0135 a0002c0003t0013g0198 a0002c0003t0013g0205 a0002c0003t0016g0189 a0002c0003t0016g0190 a0002c0003t0016g0191 a0002c0003t0016g0192 a0002c0003t0017g0219 a0002c0003t0017g0220 a0002c0003t0018g0215 a0002c0003t0019g0013 a0002c0003t0041g0226 a0003c0005t0001g0129 a0003c0005t0002g0182 a0003c0005t0002g0245 a0003c0005t0002g0246 a0003c0005t0002g0247 a0003c0005t0002g0248 a0003c0005t0002g0249 a0003c0005t0002g0250 a0003c0005t0002g0251 a0003c0005t0002g0252 a0003c0005t0002g0253 a0003c0006t0005g0181 a0003c0006t0006g0185 a0003c0006t0006g0187 a0003c0006t0007g0014 a0003c0006t0007g0195 a0003c0006t0009g0131 a0003c0006t0012g0186 a0004c0004t0001g0038 a0004c0004t0001g0234 a0004c0004t0002g0031 a0004c0004t0002g0037 a0004c0004t0002g0232 a0004c0004t0002g0235 a0004c0004t0002g0236 a0004c0004t0002g0242 a0004c0004t0003g0149 a0004c0004t0013g0231 a0004c0004t0013g0233 a0004c0004t0018g0268 a0004c0004t0047g0269 a0005c0007t0003g0293 a0005c0007t0003g0308 a0005c0007t0003g0309 a0005c0007t0003g0318 a0005c0007t0004g0323 a0005c0007t0010g0310 a0005c0007t0031g0285 a0006c0008t0003g0303 a0006c0008t0003g0307 a0006c0008t0004g0298 a0006c0008t0004g0299 a0006c0008t0004g0302 a0006c0008t0033g0294 a0007c0010t0023g0125 a0007c0010t0024g0126 a0007c0010t0025g0127 a0008c0009t0001g0266 a0008c0009t0015g0341 a0008c0009t0015g0342 a0009c0013t0004g0164 a0009c0013t0011g0239 a0011c0012t0006g0085 a0011c0012t0007g0090 a0012c0020t0009g0057 a0013c0018t0002g0291 a0014c0019t0002g0337 a0015c0016t0039g0357 a0016c0017t0002g0343 a0018c0014t0001g0053	349	380	0.9184	-18	c.36 others(29): Show c.3643_*3660delGGAGAGGAGGGGGAGGGG	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding		1143		chr7	TogoVar
ASB18_chr2_236188459_236269406	236224821	CATCTCAT others(11): Show CATCTCATTCTTCTCTGAG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0229 a0001c0008t0003g0229	1	250	0.0040	-18	c.597 others(35): Show c.597-9973_597-9956delCTCAGAGAAGAATGAGAT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	3/5			chr2	TogoVar
ASB18_chr2_236188459_236269406	236252267	TCACACAC others(11): Show TCACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01346.hp1 HG02451.hp2 others(17): Show HG00597.hp2 HG01346.hp1 HG02451.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03453.hp1 HG03579.hp2 HG04199.hp2 HG06807.hp2 NA18946.hp1 NA18957.hp1 NA19030.hp1 NA19074.hp1 NA19240.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0011	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0003c0004 a0003c0015 a0006c0021 a0011c0023	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0006 a0001c0008t0003 a0003c0004t0004 a0003c0004t0012 a0003c0015t0019 a0006c0021t0021 a0011c0023t0001	a0001c0001t0001g0210 a0001c0001t0001g0223 a0001c0001t0001g0224 others(16): Show a0001c0001t0001g0210 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0002g0227 a0001c0003t0001g0228 a0001c0003t0006g0075 a0001c0003t0006g0218 a0001c0008t0003g0003 a0001c0008t0003g0077 a0001c0008t0003g0078 a0001c0008t0003g0229 a0003c0004t0004g0016 a0003c0004t0012g0225 a0003c0015t0019g0008 a0006c0021t0021g0214 a0011c0023t0001g0076	20	250	0.0800	-18	c.206 others(37): Show c.206-10883_206-10866delTGTGTGTGTGTGTGTGTG	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	1/5			chr2	TogoVar
ASB4_chr7_95480943_95545233	95484966	GTGTGTAT others(11): Show GTGTGTATATATGTATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01515.hp2 HG01256.hp1 HG01258.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092	3	388	0.0077	-18	c.-10 others(28): Show c.-1005_-988delTGTGTATATATGTATATA	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding		976		chr7	TogoVar
ASB4_chr7_95480943_95545233	95493374	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18977.hp1 NA18999.hp1 HG02083.hp1 NA18977.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200	3	388	0.0077	-18	c.188 others(35): Show c.188-2368_188-2351delGTATGTGTGTGTGTGTGT	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB4_chr7_95480943_95545233	95505295	TTGCATTT others(11): Show TTGCATTTCTGTATACCAG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19043.hp1 HG02486.hp2 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0028 a0002c0002t0004g0029 a0002c0002t0004g0028 a0002c0002t0004g0029	2	388	0.0052	-18	c.487 others(35): Show c.487+9239_487+9256delTGCATTTCTGTATACCAG	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4			chr7	TogoVar
ASB4_chr7_95480943_95545233	95515249	TTCCTTCT others(11): Show TTCCTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0041 a0001c0001t0011g0041	1	388	0.0026	-18	c.488 others(37): Show c.488-12561_488-12544delCTTCTTTCTTTCTTTCTC	ASB4	ENSG00000005981.13	transcript	ENST00000325885.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB5_chr4_176208673_176274222	176219556	AATATGTA others(11): Show AATATGTATATATTTGTAT	A A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	410	0.0024	-18	c.670 others(35): Show c.670+1581_670+1598delATACAAATATATACATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219575	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 NA18948.hp1 others(2): Show HG00423.hp2 HG00621.hp2 NA18948.hp1 NA18959.hp2 NA19084.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0340 a0001c0002t0002g0354 others(1): Show a0001c0002t0002g0030 a0001c0002t0002g0340 a0001c0002t0002g0354 a0001c0002t0002g0360	5	410	0.0122	-18	c.670 others(35): Show c.670+1562_670+1579delATATATATATATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASCC1_chr10_72091032_72221276	72218159	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG03927.hp2 HG01496.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0115 a0001c0001t0002g0119	2	216	0.0093	-18	c.-20 others(29): Show c.-2004_-1987delATATATATATATTTTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1884		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218161	AAAAAATA others(11): Show AAAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01993.hp1 HG02040.hp2 others(4): Show HG01433.hp1 HG01993.hp1 HG02040.hp2 HG02735.hp1 HG02886.hp2 NA18973.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0002g0112 others(4): Show a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0002g0112 a0001c0001t0002g0120 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0002g0141	7	216	0.0324	-18	c.-20 others(29): Show c.-2006_-1989delATATATATATATATTTTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1886		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218163	AAAATATA others(11): Show AAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02165.hp2 NA18977.hp1 others(2): Show HG02132.hp2 HG02165.hp2 NA18977.hp1 NA19084.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 others(2): Show a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0080 a0001c0001t0002g0026	5	216	0.0232	-18	c.-20 others(29): Show c.-2008_-1991delATATATATATATATATTT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1888		chr10	TogoVar
ASCC1_chr10_72091032_72221276	72218165	AATATATA others(11): Show AATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01192.hp2 HG02698.hp2 others(1): Show HG00735.hp1 HG01192.hp2 HG02698.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0001g0067 a0001c0001t0002g0009 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0067 a0001c0001t0002g0009 a0001c0001t0002g0098	4	216	0.0185	-18	c.-20 others(29): Show c.-2010_-1993delATATATATATATATATAT	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding		1890		chr10	TogoVar
ASCC2_chr22_29783611_29843274	29818403	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp2 HG01891.hp1 others(2): Show HG00558.hp2 HG00733.hp2 HG01891.hp1 HG03239.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0243 others(2): Show a0001c0001t0001g0227 a0001c0001t0001g0233 a0001c0001t0001g0243 a0001c0001t0001g0259 a0001c0001t0007g0042	5	372	0.0134	-18	c.542 others(35): Show c.542-2348_542-2331delGTGTGTGTGTGTGTGTGT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	5/19			chr22	TogoVar
ASCC2_chr22_29783611_29843274	29824251	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0310 a0001c0001t0003g0310	1	372	0.0027	-18	c.411 others(33): Show c.411+818_411+835delGTGTGTGTGTGTGTGTGT	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	4/19			chr22	TogoVar
ASCC3_chr6_100503194_100886329	100608659	TTTATATA others(11): Show TTTATATATATATACTTTA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18945.hp1 NA18955.hp1 others(1): Show HG02132.hp1 NA18945.hp1 NA18955.hp1 NA18974.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0174 a0003c0004t0004g0178 a0003c0004t0004g0195 others(1): Show a0003c0004t0004g0174 a0003c0004t0004g0178 a0003c0004t0004g0195 a0003c0004t0004g0200	4	314	0.0127	-18	c.478 others(37): Show c.4786-1589_4786-1572delTAAAGTATATATATATAA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100723860	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02280.hp1 HG02486.hp1 others(6): Show HG01358.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG03139.hp1 HG03453.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0010 a0001c0002 a0008c0010	a0001c0002t0001 a0001c0002t0011 a0008c0010t0007 a0001c0002t0001 a0001c0002t0011 a0008c0010t0007	a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 others(6): Show a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0011g0003 a0008c0010t0007g0002 a0008c0010t0007g0004	9	314	0.0287	-18	c.190 others(37): Show c.1902+1661_1902+1678delTATATATATATATATATA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	11/41			chr6	TogoVar
ASCL3_chr11_8932578_8948016	8946547	GCTAGGAC others(11): Show GCTAGGACTTCCAGTACAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0019 a0001c0006t0001g0019	1	440	0.0023	-18	c.-35 others(29): Show c.-3592_-3575delTTGTACTGGAAGTCCTAG	ASCL3	ENSG00000176009.4	transcript	ENST00000531618.2	protein_coding		3532		chr11	TogoVar
ASDURF_chr2_189656459_189671401	189665596	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18970.hp1 NA18977.hp2 others(2): Show NA18946.hp2 NA18970.hp1 NA18977.hp2 NA19006.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0042 a0001c0001t0002g0024 a0001c0001t0002g0113 a0001c0001t0001g0042 a0001c0001t0002g0024 a0001c0001t0002g0113	5	340	0.0147	-18	c.220 others(33): Show c.220+147_220+164delGTATATATATATATATAT	ASDURF	ENSG00000286053.2	transcript	ENST00000607829.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASF1B_chr19_14114512_14141589	14134201	CATCTCCT others(11): Show CATCTCCTCCTGGCTTTTA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	334	0.0030	-18	c.109 others(35): Show c.109+2129_109+2146delTAAAAGCCAGGAGGAGAT	ASF1B	ENSG00000105011.9	transcript	ENST00000263382.8	protein_coding	1/3			chr19	TogoVar
ASH1L_chr1_155330268_155567803	155411582	AATAAATA others(11): Show AATAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01261.hp1 HG01516.hp2 others(8): Show HG01192.hp1 HG01261.hp1 HG01516.hp2 HG01978.hp1 HG02280.hp2 HG02572.hp2 HG02922.hp2 HG03017.hp2 HG03486.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0010 a0001c0009t0015 a0001c0001t0001 a0001c0001t0010 a0001c0009t0015	a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0076 others(8): Show a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0010g0001 a0001c0009t0015g0009	11	182	0.0604	-18	c.600 others(37): Show c.6008+4144_6008+4161delATATATATATATATTTAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155411586	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	182	0.0055	-18	c.600 others(37): Show c.6008+4140_6008+4157delATATATATATATATATAT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	6/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155490968	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03453.hp1 HG03516.hp2 others(4): Show HG02145.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0008 a0011c0014 a0001c0001 a0001c0008 a0011c0014	a0001c0001t0001 a0001c0008t0002 a0011c0014t0002 a0001c0001t0001 a0001c0008t0002 a0011c0014t0002	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0008t0002g0168 a0011c0014t0002g0173	7	182	0.0385	-18	c.421 others(35): Show c.421-8537_421-8520delTTTTTTTTTTTTTTTTTT	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	2/27			chr1	TogoVar
ASH1L_chr1_155330268_155567803	155542123	GGAGGGGG others(11): Show GGAGGGGGATAGGAATGTA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	182	0.0055	-18	c.-10 others(39): Show c.-100+20012_-100+20029delTACATTCCTATCCCCCTC	ASH1L	ENSG00000116539.14	transcript	ENST00000392403.8	protein_coding	1/27			chr1	TogoVar
ASIC1_chr12_50052596_50088611	50074860	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG00733.hp2 others(20): Show HG00544.hp1 HG00642.hp1 HG00733.hp2 HG01071.hp2 HG01081.hp1 HG01255.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02273.hp2 HG02572.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG03130.hp2 HG03239.hp2 HG04199.hp2 HG04204.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0059 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0030 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0110 a0001c0001t0001g0151 a0001c0001t0002g0026 a0001c0001t0003g0008 a0001c0001t0003g0060 a0001c0001t0003g0119 a0001c0001t0005g0005	23	324	0.0710	-18	c.559 others(35): Show c.559-2323_559-2306delGTGTGTGTGTGTGTGTGT	ASIC1	ENSG00000110881.12	transcript	ENST00000447966.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
ASIC2_chr17_33008087_33298295	33288715	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(46): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG01168.hp1 HG01261.hp1 HG01358.hp1 HG01884.hp1 HG01934.hp1 HG02015.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02451.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03453.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03942.hp2 HG04228.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18960.hp1 NA18960.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18985.hp1 NA18993.hp1 NA19004.hp2 NA19007.hp1 NA19043.hp2 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0001c0004t0008 a0001c0004t0010 a0001c0004t0016 a0001c0004t0027	a0001c0001t0003g0058 a0001c0001t0003g0081 a0001c0002t0001g0110 others(46): Show a0001c0001t0003g0058 a0001c0001t0003g0081 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0129 a0001c0002t0002g0113 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0010g0134 a0001c0004t0001g0141 a0001c0004t0001g0149 a0001c0004t0001g0153 a0001c0004t0001g0174 a0001c0004t0002g0142 a0001c0004t0002g0150 a0001c0004t0002g0152 a0001c0004t0002g0175 a0001c0004t0004g0008 a0001c0004t0005g0144 a0001c0004t0005g0146 a0001c0004t0008g0143 a0001c0004t0008g0154 a0001c0004t0010g0145 a0001c0004t0010g0151 a0001c0004t0016g0148 a0001c0004t0027g0147	49	240	0.2042	-18	c.708 others(35): Show c.708+2675_708+2692delGTGTGTGTGTGTGTGTGT	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33294892	GCTGTACT others(11): Show GCTGTACTGGGGCCTCTAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0100 a0001c0002t0002g0100	1	240	0.0042	-18	c.-27 others(29): Show c.-2795_-2778delGTAGAGGCCCCAGTACAG	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding		1598		chr17	TogoVar
ASMTL_chrX_1398139_1457909	1403027	TCCTCCTT others(11): Show TCCTCCTTCCCAAAAGCAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0035 a0003c0005t0001g0035	1	185	0.0054	-18	c.22 others(27): Show c.224_*241delCTGCTTTTGGGAAGGAGG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		111		chrX	TogoVar
ASMTL_chrX_1398139_1457909	1417755	CATGCTCC others(11): Show CATGCTCCATGTCACAGGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00423.hp2 others(50): Show HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01169.hp1 HG01257.hp1 HG01346.hp2 HG01358.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02004.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02615.hp1 HG02622.hp2 HG02683.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03540.hp2 HG03669.hp1 HG04184.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18955.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18971.hp2 NA18992.hp1 NA18993.hp2 NA18997.hp2 NA19057.hp2 NA19064.hp2 NA19081.hp2 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp2	a0000 a0001 a0002 others(8): Show a0000 a0001 a0002 a0004 a0005 a0007 a0010 a0014 a0016 a0017 a0018	a0000c0007 a0000c0030 a0000c0039 others(20): Show a0000c0007 a0000c0030 a0000c0039 a0000c0043 a0001c0011 a0001c0013 a0001c0040 a0001c0042 a0002c0003 a0002c0009 a0002c0014 a0002c0031 a0002c0033 a0004c0006 a0004c0010 a0005c0027 a0005c0038 a0007c0017 a0010c0041 a0014c0025 a0016c0028 a0017c0022 a0018c0032	a0000c0007t0001 a0000c0030t0001 a0000c0039t0001 others(20): Show a0000c0007t0001 a0000c0030t0001 a0000c0039t0001 a0000c0043t0001 a0001c0011t0001 a0001c0013t0001 a0001c0040t0001 a0001c0042t0001 a0002c0003t0001 a0002c0009t0001 a0002c0014t0001 a0002c0031t0001 a0002c0033t0001 a0004c0006t0001 a0004c0010t0001 a0005c0027t0001 a0005c0038t0001 a0007c0017t0001 a0010c0041t0001 a0014c0025t0001 a0016c0028t0001 a0017c0022t0001 a0018c0032t0001	a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 others(50): Show a0000c0007t0001g0033 a0000c0007t0001g0034 a0000c0007t0001g0043 a0000c0007t0001g0044 a0000c0007t0001g0061 a0000c0007t0001g0086 a0000c0007t0001g0092 a0000c0007t0001g0126 a0000c0030t0001g0026 a0000c0039t0001g0148 a0000c0043t0001g0069 a0001c0011t0001g0014 a0001c0011t0001g0174 a0001c0011t0001g0178 a0001c0013t0001g0068 a0001c0013t0001g0164 a0001c0040t0001g0099 a0001c0042t0001g0005 a0002c0003t0001g0009 a0002c0003t0001g0091 a0002c0003t0001g0093 a0002c0003t0001g0143 a0002c0003t0001g0153 a0002c0003t0001g0176 a0002c0009t0001g0072 a0002c0009t0001g0119 a0002c0009t0001g0128 a0002c0014t0001g0015 a0002c0014t0001g0177 a0002c0031t0001g0131 a0002c0033t0001g0171 a0004c0006t0001g0007 a0004c0006t0001g0016 a0004c0006t0001g0025 a0004c0006t0001g0058 a0004c0006t0001g0059 a0004c0006t0001g0084 a0004c0006t0001g0102 a0004c0006t0001g0133 a0004c0006t0001g0135 a0004c0010t0001g0029 a0004c0010t0001g0082 a0004c0010t0001g0123 a0004c0010t0001g0125 a0005c0027t0001g0175 a0005c0038t0001g0113 a0007c0017t0001g0167 a0007c0017t0001g0168 a0010c0041t0001g0161 a0014c0025t0001g0152 a0016c0028t0001g0160 a0017c0022t0001g0017 a0018c0032t0001g0105	53	185	0.2865	-18	c.152 others(35): Show c.1522+200_1522+217delACCTGTGACATGGAGCAT	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	11/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1450078	CCCCATCA others(11): Show CCCCATCACCAGTAACTAT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01934.hp1 HG01975.hp1 others(5): Show HG01346.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 NA19057.hp2 NA19074.hp2 NA19083.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0003 others(2): Show a0001c0001 a0001c0008 a0002c0003 a0003c0002 a0003c0005	a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 others(2): Show a0001c0001t0001 a0001c0008t0001 a0002c0003t0001 a0003c0002t0001 a0003c0005t0001	a0001c0001t0001g0085 a0001c0008t0001g0145 a0001c0008t0001g0154 others(5): Show a0001c0001t0001g0085 a0001c0008t0001g0145 a0001c0008t0001g0154 a0002c0003t0001g0143 a0002c0003t0001g0153 a0003c0002t0001g0144 a0003c0005t0001g0146 a0003c0005t0001g0179	8	185	0.0432	-18	c.93+ others(33): Show c.93+2652_93+2669delATAGTTACTGGTGATGGG	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	1/12			chrX	TogoVar
ASMT_chrX_1610059_1648081	1619549	TATAATAA others(11): Show TATAATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA18906.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0144 a0001c0001t0002g0145	2	223	0.0090	-18	c.70- others(33): Show c.70-3567_70-3550delTAATAATAATAATAATAA	ASMT	ENSG00000196433.13	transcript	ENST00000381241.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ASNSD1_chr2_189656459_189675831	189665596	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18970.hp1 NA19006.hp2 others(1): Show NA18946.hp2 NA18970.hp1 NA19006.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0039 a0001c0001t0002g0116 a0001c0002t0001g0045 a0001c0001t0002g0039 a0001c0001t0002g0116 a0001c0002t0001g0045	4	340	0.0118	-18	c.-93 others(33): Show c.-93+147_-93+164delGTATATATATATATATAT	ASNSD1	ENSG00000138381.10	transcript	ENST00000260952.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASPH_chr8_61495556_61719592	61704194	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0097 a0001c0001t0006g0097	1	258	0.0039	-18	c.103 others(37): Show c.103+10057_103+10074delTTTTTTTTTTTTTTTTTT	ASPH	ENSG00000198363.18	transcript	ENST00000379454.9	protein_coding	1/24			chr8	TogoVar
ASPM_chr1_197079127_197151669	197087531	TATTATAG others(11): Show TATTATAGTCAACATAGCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(77): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG02004.hp2 HG02071.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02523.hp1 HG02735.hp1 HG03017.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18987.hp1 NA18988.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp2 NA19079.hp2 NA19083.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA20300.hp2	a0001 a0008 a0009 others(6): Show a0001 a0008 a0009 a0017 a0018 a0022 a0023 a0034 a0035	a0001c0001 a0001c0008 a0001c0026 others(8): Show a0001c0001 a0001c0008 a0001c0026 a0008c0014 a0009c0015 a0017c0021 a0018c0020 a0022c0047 a0023c0046 a0034c0038 a0035c0048	a0001c0001t0001 a0001c0001t0009 a0001c0008t0001 others(9): Show a0001c0001t0001 a0001c0001t0009 a0001c0008t0001 a0001c0026t0001 a0008c0014t0001 a0009c0015t0001 a0017c0021t0001 a0018c0020t0001 a0022c0047t0001 a0023c0046t0001 a0034c0038t0001 a0035c0048t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(52): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0216 a0001c0001t0009g0217 a0001c0008t0001g0130 a0001c0026t0001g0043 a0008c0014t0001g0025 a0008c0014t0001g0116 a0009c0015t0001g0095 a0009c0015t0001g0102 a0009c0015t0001g0123 a0017c0021t0001g0027 a0018c0020t0001g0103 a0018c0020t0001g0104 a0022c0047t0001g0134 a0023c0046t0001g0131 a0034c0038t0001g0122 a0035c0048t0001g0135	80	296	0.2703	-18	c.101 others(37): Show c.10162-577_10162-560delTGCTATGTTGACTATAAT	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding	26/27			chr1	TogoVar
ASPM_chr1_197079127_197151669	197149810	TCACACTG others(11): Show TCACACTGGTTCCTAGATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp2 HG00438.hp1 others(80): Show HG00099.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01934.hp1 HG02004.hp2 HG02071.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02523.hp1 HG02735.hp1 HG03017.hp2 HG03098.hp1 HG03490.hp2 HG03492.hp2 HG03704.hp2 HG03831.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18987.hp1 NA18988.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19066.hp1 NA19076.hp2 NA19079.hp2 NA19083.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA20300.hp2	a0001 a0008 a0009 others(7): Show a0001 a0008 a0009 a0011 a0017 a0018 a0022 a0023 a0034 a0035	a0001c0001 a0001c0008 a0001c0026 others(9): Show a0001c0001 a0001c0008 a0001c0026 a0008c0014 a0009c0015 a0011c0016 a0017c0021 a0018c0020 a0022c0047 a0023c0046 a0034c0038 a0035c0048	a0001c0001t0001 a0001c0001t0009 a0001c0008t0001 others(10): Show a0001c0001t0001 a0001c0001t0009 a0001c0008t0001 a0001c0026t0001 a0008c0014t0001 a0009c0015t0001 a0011c0016t0001 a0017c0021t0001 a0018c0020t0001 a0022c0047t0001 a0023c0046t0001 a0034c0038t0001 a0035c0048t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0216 a0001c0001t0009g0217 a0001c0008t0001g0130 a0001c0026t0001g0043 a0008c0014t0001g0025 a0008c0014t0001g0116 a0009c0015t0001g0095 a0009c0015t0001g0102 a0009c0015t0001g0123 a0011c0016t0001g0009 a0017c0021t0001g0027 a0018c0020t0001g0103 a0018c0020t0001g0104 a0022c0047t0001g0134 a0023c0046t0001g0131 a0034c0038t0001g0122 a0035c0048t0001g0135	83	296	0.2804	-18	c.-33 others(29): Show c.-3391_-3374delGATCTAGGAACCAGTGTG	ASPM	ENSG00000066279.19	transcript	ENST00000367409.9	protein_coding		3142		chr1	TogoVar
ASRGL1_chr11_62332448_62398412	62362544	ATATATAA others(11): Show ATATATAACATATATTATT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00597.hp1 others(79): Show HG00140.hp2 HG00323.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01257.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02027.hp2 HG02083.hp2 HG02132.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02970.hp2 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03688.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 NA18612.hp1 NA18939.hp1 NA18948.hp2 NA18949.hp1 NA18955.hp1 NA18962.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp2 NA18998.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19240.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0007 others(2): Show a0001c0001 a0001c0002 a0001c0007 a0002c0004 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0002t0003 a0001c0007t0003 a0002c0004t0034 a0002c0004t0035 a0003c0009t0015	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0003g0004 others(79): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0003g0004 a0001c0001t0003g0039 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0306 a0001c0001t0005g0363 a0001c0001t0005g0364 a0001c0001t0007g0317 a0001c0001t0011g0138 a0001c0001t0011g0144 a0001c0001t0011g0150 a0001c0001t0011g0152 a0001c0001t0015g0135 a0001c0001t0016g0310 a0001c0001t0023g0137 a0001c0001t0025g0145 a0001c0001t0028g0147 a0001c0001t0029g0106 a0001c0002t0003g0290 a0001c0002t0003g0291 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0298 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0304 a0001c0002t0003g0305 a0001c0002t0003g0307 a0001c0002t0003g0308 a0001c0002t0003g0309 a0001c0002t0003g0311 a0001c0002t0003g0312 a0001c0007t0003g0134 a0002c0004t0034g0184 a0002c0004t0035g0183 a0003c0009t0015g0156	82	370	0.2216	-18	c.491 others(35): Show c.491+5408_491+5425delCATATATTATTTATATAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362552	CATATATT others(11): Show CATATATTATTTATATAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(61): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00642.hp1 HG00673.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp1 HG01168.hp1 HG01255.hp1 HG01258.hp1 HG01358.hp1 HG01517.hp1 HG01884.hp1 HG01943.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG03017.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 NA18747.hp1 NA18945.hp1 NA18959.hp2 NA18966.hp2 NA18978.hp2 NA18980.hp2 NA18983.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19004.hp1 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19072.hp1 NA19082.hp1 NA19085.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0018 a0001c0001t0027 a0001c0001t0031 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0017 others(60): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0368 a0001c0001t0002g0056 a0001c0001t0013g0049 a0001c0001t0018g0077 a0001c0001t0018g0110 a0001c0001t0027g0166 a0001c0001t0031g0016 a0001c0003t0001g0090	64	370	0.1730	-18	c.491 others(35): Show c.491+5418_491+5435delTTATATAATATATATTAT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62362891	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0342 a0001c0001t0039g0342	1	370	0.0027	-18	c.491 others(35): Show c.491+5775_491+5792delTTTTTTTTTTTTTTTTTT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62375428	TTATATAT others(11): Show TTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02486.hp1 HG02622.hp2 others(11): Show HG01496.hp2 HG02486.hp1 HG02622.hp2 HG02922.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 NA18906.hp2 NA18942.hp1 NA18945.hp2 NA18953.hp1 NA18995.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 a0001c0001t0039 a0001c0003t0001	a0001c0001t0002g0191 a0001c0001t0002g0235 a0001c0001t0002g0252 others(11): Show a0001c0001t0002g0191 a0001c0001t0002g0235 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0024g0031 a0001c0001t0039g0342 a0001c0003t0001g0114	14	370	0.0378	-18	c.492 others(37): Show c.492-13669_492-13652delATATATATATATATATAT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASRGL1_chr11_62332448_62398412	62375464	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03017.hp2 NA18978.hp1 others(8): Show HG00597.hp1 HG03017.hp2 NA18978.hp1 NA18979.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18998.hp1 NA19058.hp1 NA19078.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0136 a0001c0001t0003g0161 a0001c0001t0003g0169 others(8): Show a0001c0001t0003g0136 a0001c0001t0003g0161 a0001c0001t0003g0169 a0001c0002t0003g0290 a0001c0002t0003g0296 a0001c0002t0003g0299 a0001c0002t0003g0302 a0001c0002t0003g0303 a0001c0002t0003g0305 a0001c0002t0003g0307 a0001c0002t0003g0311	11	370	0.0297	-18	c.492 others(37): Show c.492-13667_492-13650delATATATATATATATATTT	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASTN1_chr1_176856067_177169712	176942816	GTGTGTAT others(11): Show GTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03471.hp1 NA18906.hp2 HG02109.hp1 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0015 a0001c0005t0004 a0001c0002t0015 a0001c0005t0004	a0001c0002t0015g0039 a0001c0005t0004g0072 a0001c0005t0004g0085 a0001c0002t0015g0039 a0001c0005t0004g0072 a0001c0005t0004g0085	3	112	0.0268	-18	c.237 others(37): Show c.2377+1057_2377+1074delTATATATATATATACACA	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	14/22			chr1	TogoVar
ASTN1_chr1_176856067_177169712	177027713	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0111 a0001c0006t0011g0111	1	112	0.0089	-18	c.112 others(37): Show c.1120+1903_1120+1920delACACACACACACACACAC	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	5/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116457085	AGAACACA others(11): Show AGAACACACATTGGGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0013 a0004c0024t0013	a0004c0024t0013g0101 a0004c0024t0013g0101	1	102	0.0098	-18	c.349 others(39): Show c.3498-14550_3498-14533delCTTCCCCAATGTGTGTTC	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	20/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116490272	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0006 a0002c0004t0005g0006	1	102	0.0098	-18	c.335 others(37): Show c.3356-2790_3356-2773delTTTTTTTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116530094	GATATATA others(11): Show GATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02572.hp1 HG02004.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0010 a0001c0013t0009 a0001c0002t0010 a0001c0013t0009	a0001c0002t0010g0064 a0001c0013t0009g0072 a0001c0002t0010g0064 a0001c0013t0009g0072	2	102	0.0196	-18	c.335 others(39): Show c.3356-42612_3356-42595delATATATATATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116530134	TATATATA others(11): Show TATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0098 a0001c0012t0001g0098	1	102	0.0098	-18	c.335 others(39): Show c.3356-42652_3356-42635delTTATATATATATATATAT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565385	CTCCATAT others(11): Show CTCCATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	102	0.0098	-18	c.335 others(39): Show c.3355+52921_3355+52938delTATATATATATATATGGA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116565387	CCATATAT others(11): Show CCATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0011 a0001c0007t0001g0011	1	102	0.0098	-18	c.335 others(39): Show c.3355+52919_3355+52936delTATATATATATATATATG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)