Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(12): Show GGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA18939.hp1 NA18972.hp1 HG02257.hp1 NA18939.hp1 NA18972.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0026 a0001c0001 a0001c0002 a0004c0026	a0001c0001t0004 a0001c0002t0007 a0004c0026t0005 a0001c0001t0004 a0001c0002t0007 a0004c0026t0005	a0001c0001t0004g0003 a0001c0002t0007g0300 a0004c0026t0005g0076 a0001c0001t0004g0003 a0001c0002t0007g0300 a0004c0026t0005g0076	3	344	0.0087	19	c.448 others(34): Show c.448+824_448+825insGTTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTN4_chr19_38642649_38736589	38677611	A A	AGCTGACC others(12): Show AGCTGACCCTACACTAAGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(202): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19070.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0020 a0002c0008 a0004c0019 a0005c0018	a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 others(49): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0036 a0001c0001t0043 a0001c0001t0044 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0012 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0035 a0001c0002t0040 a0001c0002t0041 a0001c0002t0042 a0001c0002t0045 a0001c0002t0050 a0001c0003t0003 a0001c0003t0009 a0001c0003t0051 a0001c0004t0005 a0001c0004t0013 a0001c0004t0048 a0001c0005t0001 a0001c0005t0008 a0001c0005t0018 a0001c0005t0027 a0001c0005t0028 a0001c0006t0005 a0001c0006t0046 a0001c0006t0047 a0001c0007t0001 a0001c0010t0001 a0001c0011t0012 a0001c0012t0003 a0001c0013t0003 a0001c0014t0003 a0001c0015t0004 a0001c0020t0001 a0002c0008t0011 a0004c0019t0052 a0005c0018t0001	a0001c0001t0004g0221 a0001c0001t0004g0255 a0001c0001t0004g0256 others(200): Show a0001c0001t0004g0221 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0285 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0251 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0006g0298 a0001c0001t0011g0281 a0001c0001t0016g0302 a0001c0001t0016g0303 a0001c0001t0017g0284 a0001c0001t0017g0288 a0001c0001t0019g0297 a0001c0001t0019g0299 a0001c0001t0020g0269 a0001c0001t0020g0277 a0001c0001t0022g0198 a0001c0001t0022g0199 a0001c0001t0025g0286 a0001c0001t0026g0287 a0001c0001t0030g0294 a0001c0001t0036g0268 a0001c0001t0043g0295 a0001c0001t0044g0259 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0197 a0001c0002t0001g0218 a0001c0002t0001g0226 a0001c0002t0001g0270 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0289 a0001c0002t0001g0293 a0001c0002t0005g0054 a0001c0002t0007g0023 a0001c0002t0007g0214 a0001c0002t0007g0215 a0001c0002t0007g0216 a0001c0002t0007g0217 a0001c0002t0007g0219 a0001c0002t0007g0220 a0001c0002t0012g0003 a0001c0002t0012g0301 a0001c0002t0031g0046 a0001c0002t0033g0300 a0001c0002t0034g0045 a0001c0002t0035g0050 a0001c0002t0040g0203 a0001c0002t0041g0007 a0001c0002t0042g0290 a0001c0002t0045g0186 a0001c0002t0050g0069 a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0177 a0001c0003t0003g0178 a0001c0003t0003g0179 a0001c0003t0003g0180 a0001c0003t0003g0184 a0001c0003t0003g0185 a0001c0003t0003g0188 a0001c0003t0003g0191 a0001c0003t0003g0194 a0001c0003t0003g0195 a0001c0003t0003g0213 a0001c0003t0009g0176 a0001c0003t0009g0181 a0001c0003t0009g0182 a0001c0003t0009g0183 a0001c0003t0009g0192 a0001c0003t0051g0189 a0001c0004t0005g0095 a0001c0004t0005g0222 a0001c0004t0005g0224 a0001c0004t0005g0225 a0001c0004t0005g0227 a0001c0004t0005g0229 a0001c0004t0005g0230 a0001c0004t0005g0231 a0001c0004t0005g0232 a0001c0004t0005g0233 a0001c0004t0005g0240 a0001c0004t0005g0242 a0001c0004t0005g0243 a0001c0004t0005g0244 a0001c0004t0005g0245 a0001c0004t0005g0246 a0001c0004t0013g0228 a0001c0004t0013g0235 a0001c0004t0013g0236 a0001c0004t0013g0241 a0001c0004t0048g0223 a0001c0005t0001g0304 a0001c0005t0008g0001 a0001c0005t0008g0004 a0001c0005t0008g0077 a0001c0005t0008g0305 a0001c0005t0018g0307 a0001c0005t0018g0308 a0001c0005t0027g0306 a0001c0005t0028g0001 a0001c0006t0005g0237 a0001c0006t0046g0238 a0001c0006t0047g0239 a0001c0007t0001g0200 a0001c0007t0001g0202 a0001c0007t0001g0204 a0001c0010t0001g0292 a0001c0011t0012g0291 a0001c0012t0003g0190 a0001c0013t0003g0187 a0001c0014t0003g0193 a0001c0015t0004g0247 a0001c0020t0001g0234 a0002c0008t0011g0278 a0002c0008t0011g0279 a0002c0008t0011g0280 a0004c0019t0052g0031 a0005c0018t0001g0201	205	314	0.6529	19	c.163 others(38): Show c.163-22988_163-22987insCTGACCCTACACTAAGCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTR1A_chr10_102474229_102507712	102493001	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01361.hp1 HG01934.hp2 others(9): Show HG01346.hp1 HG01361.hp1 HG01934.hp2 HG01943.hp2 HG02040.hp1 HG02083.hp1 HG03492.hp2 HG04199.hp2 NA18955.hp1 NA18959.hp1 NA19003.hp1 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0003 a0001c0001t0003 a0003c0003t0003	a0001c0001t0003g0009 a0001c0001t0003g0050 a0001c0001t0003g0231 others(3): Show a0001c0001t0003g0009 a0001c0001t0003g0050 a0001c0001t0003g0231 a0001c0001t0003g0245 a0001c0001t0003g0253 a0003c0003t0003g0232	12	388	0.0309	19	c.49- others(34): Show c.49-2407_49-2389dupTTTTTTTTTTTTTTTTTTT	ACTR1A	ENSG00000138107.13	transcript	ENST00000369905.9	protein_coding	1/10			chr10	TogoVar
ACTR3B_chr7_152754752_152860378	152785504	A A	ACAGAGAG others(12): Show ACAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0301 a0001c0005t0001g0301	1	310	0.0032	19	c.100 others(36): Show c.100+2262_100+2263insCAGAGAGAGAGAGAGAGAG	ACTR3B	ENSG00000133627.18	transcript	ENST00000256001.13	protein_coding	2/11			chr7	TogoVar
ACTR3C_chr7_150242212_150328545	150248659	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02809.hp1 HG02717.hp1 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0200 a0002c0002t0001g0119 a0001c0001t0001g0200 a0002c0002t0001g0119	2	294	0.0068	19	c.38 others(34): Show c.38+288_*38+289insTTTTTTTTTTTTTTTTTTT	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding	7/7			chr7	TogoVar
ACTRT3_chr3_169761921_169774561	169771080	A A	ATATAAAA others(12): Show ATATAAAAATTTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	19	c.-15 others(30): Show c.-1561_-1560insATATATATAAATTTTTATA	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1520		chr3	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAAGAA others(12): Show GAGAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	216	0.0046	19	c.544 others(36): Show c.544+1891_544+1892insTTCTTTCTTTCTTTCTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157555101	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG03041.hp2 others(4): Show HG02630.hp1 HG02717.hp2 HG03041.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp2 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0008 a0002c0003t0021 a0002c0003t0005 a0002c0003t0008 a0002c0003t0021	a0002c0003t0005g0008 a0002c0003t0005g0076 a0002c0003t0005g0077 others(4): Show a0002c0003t0005g0008 a0002c0003t0005g0076 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0003t0008g0012 a0002c0003t0021g0096	7	216	0.0324	19	c.544 others(34): Show c.544+973_544+991dupAAAAAAAAAAAAAAAAAAA	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACYP1_chr14_75048243_75069024	75062101	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02615.hp1 HG02647.hp1 others(5): Show HG02109.hp2 HG02615.hp1 HG02647.hp1 HG02818.hp1 HG03098.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0054 a0001c0001t0001g0055 others(2): Show a0001c0001t0001g0010 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0083	8	322	0.0248	19	c.84+ others(34): Show c.84+1350_84+1368dupTTTTTTTTTTTTTTTTTTT	ACYP1	ENSG00000119640.9	transcript	ENST00000238618.8	protein_coding	2/2			chr14	TogoVar
ACYP1_chr14_75048243_75069024	75062120	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	322	0.0031	19	c.84+ others(34): Show c.84+1349_84+1350insCTTTTTTTTTTTTTTTTTT	ACYP1	ENSG00000119640.9	transcript	ENST00000238618.8	protein_coding	2/2			chr14	TogoVar
ACYP2_chr2_53966113_54310300	54035009	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG01070.hp1 others(16): Show HG00423.hp2 HG00621.hp2 HG01070.hp1 HG01109.hp1 HG01256.hp2 HG01257.hp1 HG02083.hp1 HG02129.hp2 HG02698.hp2 HG02735.hp2 HG02895.hp2 HG02922.hp2 HG03669.hp1 HG03831.hp1 HG04228.hp2 NA18945.hp2 NA19002.hp1 NA19056.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0016	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 others(16): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0002t0002g0020 a0001c0002t0002g0028 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0087 a0001c0002t0002g0091 a0001c0002t0008g0094 a0001c0002t0016g0055	19	272	0.0699	19	c.63- others(36): Show c.63-15944_63-15926dupAAAAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54102638	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	272	0.0037	19	c.278 others(38): Show c.278-32797_278-32779dupAAAAAAAAAAAAAAAAAAA	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201679	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0099 a0001c0002t0001g0099	1	272	0.0037	19	c.404 others(38): Show c.404+62935_404+62936insTTCTTTCTTTCTTTCTTCT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54202405	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	272	0.0037	19	c.404 others(38): Show c.404+63675_404+63676insTTTTTTTTTTTTTTTTTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54202706	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	272	0.0037	19	c.404 others(38): Show c.404+63981_404+63999dupTTTTTTTTTTTTTTTTTTT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17188863	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(78): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02293.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18959.hp1 NA18962.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp2 NA18987.hp2 NA18992.hp2 NA18994.hp2 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19085.hp2 NA19087.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002 a0002c0007 a0006c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0040 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0007 a0001c0004t0013 a0001c0004t0036 a0001c0004t0038 a0001c0008t0006 a0002c0002t0001 a0002c0002t0008 a0002c0002t0009 a0002c0002t0012 a0002c0007t0001 a0002c0007t0009 a0006c0015t0001	a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0094 others(76): Show a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0227 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0004g0329 a0001c0001t0004g0380 a0001c0001t0004g0381 a0001c0001t0004g0396 a0001c0001t0004g0402 a0001c0001t0005g0115 a0001c0001t0005g0226 a0001c0001t0005g0270 a0001c0001t0040g0321 a0001c0003t0001g0134 a0001c0003t0001g0151 a0001c0003t0001g0230 a0001c0003t0001g0232 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0242 a0001c0003t0001g0311 a0001c0003t0004g0328 a0001c0003t0004g0342 a0001c0003t0004g0346 a0001c0003t0004g0359 a0001c0003t0004g0368 a0001c0003t0005g0241 a0001c0003t0008g0389 a0001c0003t0012g0001 a0001c0003t0012g0007 a0001c0003t0013g0108 a0001c0004t0001g0068 a0001c0004t0001g0070 a0001c0004t0001g0091 a0001c0004t0001g0126 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0001g0150 a0001c0004t0001g0201 a0001c0004t0001g0260 a0001c0004t0001g0261 a0001c0004t0001g0264 a0001c0004t0001g0324 a0001c0004t0004g0395 a0001c0004t0005g0124 a0001c0004t0005g0235 a0001c0004t0007g0263 a0001c0004t0013g0074 a0001c0004t0036g0253 a0001c0004t0038g0138 a0001c0008t0006g0349 a0002c0002t0001g0002 a0002c0002t0008g0377 a0002c0002t0009g0274 a0002c0002t0012g0005 a0002c0007t0001g0148 a0002c0007t0001g0149 a0002c0007t0009g0237 a0006c0015t0001g0167	81	408	0.1985	19	c.973 others(34): Show c.973-417_973-416insTTTTTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0273 a0001c0001t0005g0273	1	408	0.0025	19	c.973 others(34): Show c.973-422_973-421insATTTTTTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAL_chr15_43325672_43359569	43334664	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp2 HG01346.hp1 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0083 a0001c0002t0001g0084	2	386	0.0052	19	c.-16 others(36): Show c.-163-281_-163-280insATATATATATATATATATA	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding	3/12			chr15	TogoVar
ADAL_chr15_43325672_43359569	43357270	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01358.hp1 NA18522.hp2 HG00733.hp2 HG01358.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0097 a0001c0001t0004g0131 a0001c0001t0004g0025 a0001c0001t0004g0097 a0001c0001t0004g0131	3	386	0.0078	19	c.53 others(30): Show c.5325_*5326insTTTTTTTTTTTTTTTTTTT	ADAL	ENSG00000168803.16	transcript	ENST00000562188.7	protein_coding		2702		chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647246	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0135 a0001c0001t0024g0152 a0001c0001t0001g0135 a0001c0001t0024g0152	2	342	0.0059	19	c.586 others(36): Show c.586-1043_586-1042insAAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647248	A A	ATTTCTTT others(12): Show ATTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18943.hp1 NA18978.hp2 others(1): Show HG02886.hp2 NA18943.hp1 NA18978.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0021 others(1): Show a0001c0001t0007 a0001c0001t0013 a0001c0001t0021 a0001c0001t0051	a0001c0001t0007g0304 a0001c0001t0013g0305 a0001c0001t0021g0326 others(1): Show a0001c0001t0007g0304 a0001c0001t0013g0305 a0001c0001t0021g0326 a0001c0001t0051g0289	4	342	0.0117	19	c.586 others(36): Show c.586-1045_586-1044insAAAAAAAAAAAAAAAGAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM10_chr15_58583809_58754707	58647248	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02818.hp1 HG02559.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0034 a0001c0001t0006 a0001c0001t0034	a0001c0001t0006g0080 a0001c0001t0034g0025 a0001c0001t0006g0080 a0001c0001t0034g0025	2	342	0.0059	19	c.586 others(36): Show c.586-1063_586-1045dupAAAAAAAAAAAAAAAAAAA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM11_chr17_44753988_44786846	44778688	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAGAAA	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0162 a0001c0002t0010g0162	1	336	0.0030	19	c.227 others(36): Show c.2276+461_2276+462insGAAAAAAAAAAAAAAAAAA	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr17	TogoVar
ADAM11_chr17_44753988_44786846	44778713	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0120 a0001c0002t0028g0120	1	336	0.0030	19	c.227 others(36): Show c.2276+471_2276+472insAAAAAAAAAAAAAAAAAAG	ADAM11	ENSG00000073670.14	transcript	ENST00000200557.11	protein_coding	25/26			chr17	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0003 a0001c0036t0003	a0001c0036t0003g0100 a0001c0036t0003g0100	1	252	0.0040	19	c.114 others(38): Show c.1145+7304_1145+7305insATATATATATATTTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp1 HG01109.hp2 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0031 a0001c0002 a0001c0031	a0001c0002t0019 a0001c0031t0002 a0001c0002t0019 a0001c0031t0002	a0001c0002t0019g0188 a0001c0031t0002g0181 a0001c0002t0019g0188 a0001c0031t0002g0181	2	252	0.0079	19	c.114 others(38): Show c.1145+7304_1145+7305insATATATATATATATTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126086707	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0010 a0010	a0010c0058 a0010c0058	a0010c0058t0014 a0010c0058t0014	a0010c0058t0014g0010 a0010c0058t0014g0010	1	252	0.0040	19	c.114 others(38): Show c.1145+7277_1145+7278insATATATATATATATATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113687	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0129 a0001c0004t0004g0129	1	252	0.0040	19	c.604 others(36): Show c.604-3848_604-3847insATATATATATATTTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113687	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0082 a0002c0006t0004g0082	1	252	0.0040	19	c.604 others(36): Show c.604-3848_604-3847insATATATATATATATATATT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM12_chr10_126007391_126393477	126113687	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0109 a0002c0006t0001g0109	1	252	0.0040	19	c.604 others(36): Show c.604-3848_604-3847insATATATATATATATATATA	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	6/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9489259	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 NA18522.hp1 HG03098.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0066 a0001c0001t0028g0067 a0001c0001t0028g0066 a0001c0001t0028g0067	2	234	0.0086	19	c.89 others(28): Show c.899_*917dupAAAAAAAAAAAAAAAAAAA	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	19/19	917		chr2	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0068 a0007c0009t0068	a0007c0009t0068g0143 a0007c0009t0068g0143	1	234	0.0043	19	c.957 others(34): Show c.957+220_957+238dupTTTTTTTTTTTTTTTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar
ADAM18_chr8_39579568_39735065	39701117	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01993.hp2 HG02165.hp1 others(4): Show HG00323.hp1 HG01993.hp2 HG02165.hp1 HG02273.hp2 HG03041.hp2 HG03225.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0010 a0001c0002t0001g0045 a0001c0002t0001g0101 others(4): Show a0001c0002t0001g0010 a0001c0002t0001g0045 a0001c0002t0001g0101 a0001c0002t0001g0120 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0289	7	347	0.0202	19	c.190 others(38): Show c.1903-5659_1903-5641dupAAAAAAAAAAAAAAAAAAA	ADAM18	ENSG00000168619.16	transcript	ENST00000265707.10	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADAM20_chr14_70517358_70540004	70536465	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 NA18979.hp2 HG03017.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0069 a0001c0001t0001g0071	2	400	0.0050	19	c.-18 others(30): Show c.-1846_-1845insTTTTTTTTTTTTTTTTTTT	ADAM20	ENSG00000134007.5	transcript	ENST00000256389.5	protein_coding		1462		chr14	TogoVar
ADAM22_chr7_87929251_88207889	87982699	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00639.hp2 others(30): Show HG00140.hp1 HG00597.hp2 HG00639.hp2 HG00673.hp2 HG00738.hp2 HG01071.hp1 HG01106.hp2 HG01192.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02109.hp2 HG02258.hp2 HG02630.hp2 HG02717.hp2 HG02976.hp2 HG03195.hp2 HG03453.hp2 HG03492.hp1 HG03579.hp2 NA18612.hp2 NA18939.hp1 NA18942.hp2 NA18952.hp1 NA18980.hp1 NA19009.hp2 NA19066.hp1 NA19070.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0009 a0012 a0013	a0001c0001 a0001c0019 a0002c0002 others(4): Show a0001c0001 a0001c0019 a0002c0002 a0003c0003 a0009c0009 a0012c0016 a0013c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 a0001c0001t0023 a0001c0019t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0003c0003t0001 a0003c0003t0009 a0009c0009t0004 a0012c0016t0002 a0013c0015t0003	a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0035 others(30): Show a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0113 a0001c0001t0001g0140 a0001c0001t0001g0154 a0001c0001t0001g0166 a0001c0001t0001g0186 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0001t0003g0032 a0001c0001t0006g0228 a0001c0001t0008g0087 a0001c0001t0022g0066 a0001c0001t0023g0028 a0001c0019t0001g0078 a0002c0002t0001g0175 a0002c0002t0001g0209 a0002c0002t0001g0226 a0002c0002t0002g0199 a0002c0002t0004g0179 a0003c0003t0001g0118 a0003c0003t0009g0030 a0009c0009t0004g0069 a0012c0016t0002g0042 a0013c0015t0003g0031	33	230	0.1435	19	c.323 others(36): Show c.323+4287_323+4288insTATATATATATATATATAT	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31			chr7	TogoVar
ADAM23_chr2_206438532_206626127	206477895	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	358	0.0028	19	c.433 others(36): Show c.433-3337_433-3336insTATATATATATATATATAT	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	2/25			chr2	TogoVar
ADAM23_chr2_206438532_206626127	206477897	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	358	0.0028	19	c.433 others(36): Show c.433-3334_433-3333insAAAAATATATATATATATA	ADAM23	ENSG00000114948.13	transcript	ENST00000264377.8	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS10_chr19_8575240_8615715	8581130	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03669.hp2 NA18946.hp1 others(1): Show HG01975.hp1 HG03669.hp2 NA18946.hp1 NA18948.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0005 a0005c0015 a0001c0002 a0002c0005 a0005c0015	a0001c0002t0001 a0002c0005t0001 a0005c0015t0001 a0001c0002t0001 a0002c0005t0001 a0005c0015t0001	a0001c0002t0001g0071 a0001c0002t0001g0150 a0002c0005t0001g0208 others(1): Show a0001c0002t0001g0071 a0001c0002t0001g0150 a0002c0005t0001g0208 a0005c0015t0001g0223	4	384	0.0104	19	c.320 others(36): Show c.3203-147_3203-129dupAAAAAAAAAAAAAAAAAAA	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding	25/25			chr19	TogoVar
ADAMTS10_chr19_8575240_8615715	8612550	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02015.hp1 HG02080.hp1 others(9): Show HG00597.hp2 HG02015.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG03688.hp1 HG04228.hp2 NA18950.hp2 NA18954.hp2 NA18960.hp1 NA18999.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0006c0008t0006	a0001c0001t0001g0036 a0001c0001t0001g0137 a0001c0001t0001g0139 others(9): Show a0001c0001t0001g0036 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0202 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0003g0263 a0001c0001t0012g0151 a0006c0008t0006g0167	12	384	0.0313	19	c.-21 others(30): Show c.-2122_-2121insAAAAAAAAAAAAAAAAAAA	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding		1836		chr19	TogoVar
ADAMTS10_chr19_8575240_8615715	8613742	G G	GTGGCGCG others(12): Show GTGGCGCGATCTCAGCTCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0354 a0003c0004t0003g0354	1	384	0.0026	19	c.-33 others(30): Show c.-3314_-3313insGTGAGCTGAGATCGCGCCA	ADAMTS10	ENSG00000142303.14	transcript	ENST00000597188.6	protein_coding		3028		chr19	TogoVar
ADAMTS12_chr5_33518535_33896990	33835907	A A	ATCTTCTC others(12): Show ATCTTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0040 a0003c0005t0007g0040	1	224	0.0045	19	c.489 others(38): Show c.489+45211_489+45212insGAGAGAGAGAGAGAGAAGA	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS12_chr5_33518535_33896990	33849462	T T	TATATATA others(12): Show TATATATATATTGCACAGCA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0028 a0028	a0028c0030 a0028c0030	a0028c0030t0012 a0028c0030t0012	a0028c0030t0012g0200 a0028c0030t0012g0200	1	224	0.0045	19	c.489 others(38): Show c.489+31656_489+31657insTGCTGTGCAATATATATAT	ADAMTS12	ENSG00000151388.11	transcript	ENST00000504830.6	protein_coding	2/23			chr5	TogoVar
ADAMTS14_chr10_70667506_70767441	70688864	A A	AGGGGGAG others(12): Show AGGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0070 a0003c0070	a0003c0070t0044 a0003c0070t0044	a0003c0070t0044g0348 a0003c0070t0044g0348	1	354	0.0028	19	c.523 others(38): Show c.523-13443_523-13425dupGAGGGGGAGGGGGAGGGGG	ADAMTS14	ENSG00000138316.11	transcript	ENST00000373207.2	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADAMTS15_chr11_130443645_130481645	130468939	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp2 HG02717.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0339 a0001c0001t0005g0356 a0001c0001t0003g0339 a0001c0001t0005g0356	2	398	0.0050	19	c.154 others(36): Show c.1543-314_1543-296dupAAAAAAAAAAAAAAAAAAA	ADAMTS15	ENSG00000166106.4	transcript	ENST00000299164.4	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
ADAMTS17_chr15_99966437_100346975	100116132	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0024 a0002c0001t0024	a0002c0001t0024g0175 a0002c0001t0024g0175	1	228	0.0044	19	c.188 others(36): Show c.1888+696_1888+714dupTTTTTTTTTTTTTTTTTTT	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	13/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100276227	A A	AGTGGGTG others(12): Show AGTGGGTGCCTGGTGGGAGG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0001 a0009c0027t0001	a0009c0027t0001g0196 a0009c0027t0001g0196	1	228	0.0044	19	c.789 others(36): Show c.789+5001_789+5002insCCTCCCACCAGGCACCCAC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	4/21			chr15	TogoVar
ADAMTS19_chr5_129455298_129743683	129645885	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01081.hp2 HG01433.hp2 others(6): Show HG00639.hp2 HG01081.hp2 HG01433.hp2 HG01943.hp2 HG02083.hp1 HG02523.hp1 HG03710.hp2 HG03927.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0133 a0001c0001t0001g0158 a0001c0001t0001g0191 others(6): Show a0001c0001t0001g0133 a0001c0001t0001g0158 a0001c0001t0001g0191 a0001c0001t0002g0139 a0001c0003t0001g0217 a0001c0003t0002g0209 a0001c0006t0001g0122 a0002c0002t0001g0064 a0002c0002t0002g0089	9	226	0.0398	19	c.187 others(38): Show c.1873-1877_1873-1859dupTTTTTTTTTTTTTTTTTTT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129702939	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	226	0.0044	19	c.316 others(38): Show c.3160-1300_3160-1299insTATATATATATATATATAT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	20/22			chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129702941	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0112 a0002c0004t0001g0112	1	226	0.0044	19	c.316 others(38): Show c.3160-1297_3160-1296insAAAAATATATATATATATA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS19_chr5_129455298_129743683	129702941	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0217 a0001c0003t0001g0217	1	226	0.0044	19	c.316 others(38): Show c.3160-1297_3160-1296insATATATATATATATATATA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar

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