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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Select column to sort.

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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	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AHCTF1_chr1_246834098_246936948	246855759	G G	A A	missense_variant missense_variant	MODERATE	HG01261.hp2 HG02280.hp2 HG02647.hp2 others(5): Show HG01261.hp2 HG02280.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG03579.hp1 NA18522.hp2 NA19043.hp2	a0005 a0005	a0005c0006 a0005c0027 a0005c0006 a0005c0027	a0005c0006t0001 a0005c0027t0001 a0005c0006t0001 a0005c0027t0001	a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 others(5): Show a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 a0005c0006t0001g0177 a0005c0006t0001g0214 a0005c0006t0001g0256 a0005c0006t0001g0289 a0005c0027t0001g0197	8	376	0.0213	c.432 others(4): Show c.4325C>T	p.Thr others(7): Show p.Thr1442Ile	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	31/36	4703/8887	4325/6801	1442/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246861022	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00609.hp2	a0022 a0022	a0022c0031 a0022c0031	a0022c0031t0001 a0022c0031t0001	a0022c0031t0001g0137 a0022c0031t0001g0137	1	376	0.0027	c.400 others(4): Show c.4009G>A	p.Ala others(7): Show p.Ala1337Thr	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	29/36	4387/8887	4009/6801	1337/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246861024	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00642.hp1 HG01978.hp2 HG00099.hp1 HG00642.hp1 HG01978.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0075 a0007c0009t0001g0083 a0007c0009t0001g0105 a0007c0009t0001g0075 a0007c0009t0001g0083 a0007c0009t0001g0105	3	376	0.0080	c.400 others(4): Show c.4007C>T	p.Thr others(7): Show p.Thr1336Met	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	29/36	4385/8887	4007/6801	1336/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246861097	T T	C C	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02723.hp2 HG03041.hp2 others(2): Show HG02559.hp1 HG02723.hp2 HG03041.hp2 HG03195.hp2 HG03540.hp2	a0006 a0023 a0006 a0023	a0006c0011 a0006c0039 a0023c0038 a0006c0011 a0006c0039 a0023c0038	a0006c0011t0007 a0006c0039t0007 a0023c0038t0001 a0006c0011t0007 a0006c0039t0007 a0023c0038t0001	a0006c0011t0007g0020 a0006c0011t0007g0025 a0006c0011t0007g0156 others(2): Show a0006c0011t0007g0020 a0006c0011t0007g0025 a0006c0011t0007g0156 a0006c0039t0007g0024 a0023c0038t0001g0026	5	376	0.0133	c.393 others(4): Show c.3934A>G	p.Ile others(7): Show p.Ile1312Val	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	29/36	4312/8887	3934/6801	1312/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246861226	A A	G G	missense_variant missense_variant	MODERATE	NA20129.hp1 NA20129.hp1	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0005 a0018c0030t0005	a0018c0030t0005g0009 a0018c0030t0005g0009	1	376	0.0027	c.380 others(4): Show c.3805T>C	p.Trp others(7): Show p.Trp1269Arg	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	29/36	4183/8887	3805/6801	1269/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246861247	C C	T T	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00438.hp2	a0024 a0024	a0024c0029 a0024c0029	a0024c0029t0001 a0024c0029t0001	a0024c0029t0001g0351 a0024c0029t0001g0351	1	376	0.0027	c.378 others(4): Show c.3784G>A	p.Ala others(7): Show p.Ala1262Thr	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	29/36	4162/8887	3784/6801	1262/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246867245	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA20129.hp2 NA20129.hp2	a0017 a0017	a0017c0040 a0017c0040	a0017c0040t0002 a0017c0040t0002	a0017c0040t0002g0358 a0017c0040t0002g0358	1	376	0.0027	c.334 others(4): Show c.3346A>G	p.Arg others(7): Show p.Arg1116Gly	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	26/36	3724/8887	3346/6801	1116/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246877229	T T	C C	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01069.hp2 HG00639.hp1 HG01069.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0159 a0010c0015t0001g0160 a0010c0015t0001g0159 a0010c0015t0001g0160	2	376	0.0053	c.273 others(4): Show c.2734A>G	p.Met others(6): Show p.Met912Val	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	22/36	3112/8887	2734/6801	912/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246877270	T T	C C	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0001 a0025c0041t0001	a0025c0041t0001g0157 a0025c0041t0001g0157	1	376	0.0027	c.269 others(4): Show c.2693A>G	p.Gln others(6): Show p.Gln898Arg	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	22/36	3071/8887	2693/6801	898/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246885532	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(279): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(17): Show a0001 a0003 a0004 a0005 a0006 a0009 a0010 a0011 a0012 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027	a0001c0001 a0001c0004 a0001c0007 others(33): Show a0001c0001 a0001c0004 a0001c0007 a0001c0010 a0001c0012 a0001c0018 a0001c0019 a0001c0026 a0001c0037 a0001c0044 a0003c0003 a0003c0020 a0003c0028 a0004c0005 a0004c0021 a0004c0042 a0005c0006 a0005c0027 a0006c0011 a0006c0039 a0009c0034 a0009c0035 a0010c0015 a0011c0016 a0012c0017 a0017c0040 a0018c0030 a0019c0033 a0020c0036 a0021c0032 a0022c0031 a0023c0038 a0024c0029 a0025c0041 a0026c0043 a0027c0045	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0023 a0001c0004t0001 a0001c0004t0002 a0001c0004t0008 a0001c0004t0012 a0001c0004t0015 a0001c0004t0020 a0001c0007t0001 a0001c0010t0001 a0001c0012t0002 a0001c0018t0001 a0001c0019t0001 a0001c0026t0001 a0001c0037t0001 a0001c0044t0002 a0003c0003t0001 a0003c0003t0010 a0003c0020t0022 a0003c0028t0001 a0004c0005t0005 a0004c0005t0006 a0004c0021t0006 a0004c0042t0006 a0005c0006t0001 a0005c0027t0001 a0006c0011t0007 a0006c0039t0007 a0009c0034t0002 a0009c0035t0002 a0010c0015t0001 a0011c0016t0001 a0012c0017t0013 a0017c0040t0002 a0018c0030t0005 a0019c0033t0001 a0020c0036t0002 a0021c0032t0001 a0022c0031t0001 a0023c0038t0001 a0024c0029t0001 a0025c0041t0001 a0026c0043t0001 a0027c0045t0001	a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 others(278): Show a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0361 a0001c0001t0002g0034 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0320 a0001c0001t0003g0350 a0001c0001t0004g0363 a0001c0001t0004g0364 a0001c0001t0004g0365 a0001c0001t0004g0366 a0001c0001t0004g0367 a0001c0001t0004g0368 a0001c0001t0004g0369 a0001c0001t0004g0370 a0001c0001t0004g0371 a0001c0001t0004g0372 a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0011g0144 a0001c0001t0011g0338 a0001c0001t0014g0003 a0001c0001t0018g0318 a0001c0001t0023g0374 a0001c0004t0001g0292 a0001c0004t0002g0021 a0001c0004t0002g0022 a0001c0004t0002g0023 a0001c0004t0002g0059 a0001c0004t0002g0143 a0001c0004t0002g0145 a0001c0004t0002g0146 a0001c0004t0002g0148 a0001c0004t0002g0158 a0001c0004t0002g0161 a0001c0004t0002g0167 a0001c0004t0002g0253 a0001c0004t0002g0290 a0001c0004t0002g0291 a0001c0004t0002g0298 a0001c0004t0002g0327 a0001c0004t0002g0340 a0001c0004t0002g0356 a0001c0004t0002g0357 a0001c0004t0008g0294 a0001c0004t0008g0325 a0001c0004t0008g0326 a0001c0004t0012g0355 a0001c0004t0012g0359 a0001c0004t0015g0010 a0001c0004t0020g0147 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0277 a0001c0010t0001g0045 a0001c0010t0001g0186 a0001c0010t0001g0187 a0001c0012t0002g0268 a0001c0012t0002g0269 a0001c0018t0001g0352 a0001c0019t0001g0171 a0001c0026t0001g0223 a0001c0037t0001g0287 a0001c0044t0002g0149 a0003c0003t0001g0001 a0003c0003t0001g0015 a0003c0003t0001g0108 a0003c0003t0001g0129 a0003c0003t0001g0130 a0003c0003t0001g0132 a0003c0003t0001g0136 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0168 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0196 a0003c0003t0001g0198 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0222 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0001g0233 a0003c0003t0001g0234 a0003c0003t0001g0235 a0003c0003t0001g0236 a0003c0003t0001g0237 a0003c0003t0001g0238 a0003c0003t0001g0239 a0003c0003t0001g0240 a0003c0003t0001g0242 a0003c0003t0001g0246 a0003c0003t0001g0255 a0003c0003t0001g0257 a0003c0003t0001g0259 a0003c0003t0001g0278 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0288 a0003c0003t0001g0301 a0003c0003t0001g0321 a0003c0003t0001g0341 a0003c0003t0010g0200 a0003c0003t0010g0201 a0003c0020t0022g0373 a0003c0028t0001g0241 a0004c0005t0005g0004 a0004c0005t0005g0005 a0004c0005t0005g0006 a0004c0005t0005g0007 a0004c0005t0005g0008 a0004c0005t0006g0044 a0004c0005t0006g0189 a0004c0005t0006g0199 a0004c0005t0006g0360 a0004c0021t0006g0276 a0004c0042t0006g0190 a0005c0006t0001g0017 a0005c0006t0001g0018 a0005c0006t0001g0019 a0005c0006t0001g0177 a0005c0006t0001g0214 a0005c0006t0001g0256 a0005c0006t0001g0289 a0005c0027t0001g0197 a0006c0011t0007g0020 a0006c0011t0007g0025 a0006c0011t0007g0156 a0006c0039t0007g0024 a0009c0034t0002g0164 a0009c0035t0002g0165 a0010c0015t0001g0159 a0010c0015t0001g0160 a0011c0016t0001g0274 a0011c0016t0001g0275 a0012c0017t0013g0002 a0017c0040t0002g0358 a0018c0030t0005g0009 a0019c0033t0001g0279 a0020c0036t0002g0166 a0021c0032t0001g0258 a0022c0031t0001g0137 a0023c0038t0001g0026 a0024c0029t0001g0351 a0025c0041t0001g0157 a0026c0043t0001g0170 a0027c0045t0001g0349	282	376	0.7500	c.262 others(4): Show c.2621A>G	p.Asn others(6): Show p.Asn874Ser	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	21/36	2999/8887	2621/6801	874/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246891042	T T	C C	missense_variant missense_variant	MODERATE	HG01515.hp1 HG01515.hp1	a0026 a0026	a0026c0043 a0026c0043	a0026c0043t0001 a0026c0043t0001	a0026c0043t0001g0170 a0026c0043t0001g0170	1	376	0.0027	c.196 others(4): Show c.1964A>G	p.Asn others(6): Show p.Asn655Ser	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	16/36	2342/8887	1964/6801	655/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246904023	C C	T T	missense_variant missense_variant	MODERATE	HG01981.hp2 HG01981.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0013 a0012c0017t0013	a0012c0017t0013g0002 a0012c0017t0013g0002	1	376	0.0027	c.892 others(3): Show c.892G>A	p.Val others(6): Show p.Val298Ile	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	7/36	1270/8887	892/6801	298/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246916339	T T	C C	missense_variant missense_variant	MODERATE	HG02717.hp1 HG03098.hp1 HG02717.hp1 HG03098.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0274 a0011c0016t0001g0275 a0011c0016t0001g0274 a0011c0016t0001g0275	2	376	0.0053	c.178 others(3): Show c.178A>G	p.Ile others(5): Show p.Ile60Val	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	3/36	556/8887	178/6801	60/2266	chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246916357	G G	C C	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00423.hp1	a0027 a0027	a0027c0045 a0027c0045	a0027c0045t0001 a0027c0045t0001	a0027c0045t0001g0349 a0027c0045t0001g0349	1	376	0.0027	c.160 others(3): Show c.160C>G	p.Leu others(5): Show p.Leu54Val	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	3/36	538/8887	160/6801	54/2266	chr1	TogoVar
AHCYL1_chr1_109979765_110028742	110018391	C C	T T	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03704.hp2 HG03654.hp1 HG03704.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0041 a0002c0002t0001g0042	2	350	0.0057	c.114 others(4): Show c.1142C>T	p.Thr others(6): Show p.Thr381Ile	AHCYL1	ENSG00000168710.18	transcript	ENST00000369799.10	protein_coding	12/17	1430/3943	1142/1593	381/530	chr1	TogoVar
AHCYL1_chr1_109979765_110028742	110019055	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0048 a0003c0005t0005g0048	1	350	0.0029	c.132 others(4): Show c.1322G>A	p.Arg others(6): Show p.Arg441His	AHCYL1	ENSG00000168710.18	transcript	ENST00000369799.10	protein_coding	14/17	1610/3943	1322/1593	441/530	chr1	TogoVar
AHCYL2_chr7_129220030_129435211	129225252	G G	C C	missense_variant missense_variant	MODERATE	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0199 a0002c0003t0002g0199	1	292	0.0034	c.176 others(3): Show c.176G>C	p.Arg others(5): Show p.Arg59Pro	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/17	223/5049	176/1836	59/611	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129225410	G G	A A	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0042 a0003c0004t0001g0042	1	292	0.0034	c.334 others(3): Show c.334G>A	p.Val others(6): Show p.Val112Ile	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/17	381/5049	334/1836	112/611	chr7	TogoVar
AHCY_chr20_34275268_34308355	34292436	C C	T T	missense_variant missense_variant	MODERATE	HG01981.hp1 HG01981.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0118 a0003c0003t0004g0118	1	300	0.0033	c.367 others(3): Show c.367G>A	p.Gly others(6): Show p.Gly123Arg	AHCY	ENSG00000101444.13	transcript	ENST00000217426.7	protein_coding	4/10	452/2150	367/1299	123/432	chr20	TogoVar
AHCY_chr20_34275268_34308355	34294102	T T	C C	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0131 a0004c0007t0001g0131	1	300	0.0033	c.274 others(3): Show c.274A>G	p.Ile others(5): Show p.Ile92Val	AHCY	ENSG00000101444.13	transcript	ENST00000217426.7	protein_coding	3/10	359/2150	274/1299	92/432	chr20	TogoVar
AHCY_chr20_34275268_34308355	34295412	C C	T T	missense_variant missense_variant	MODERATE	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	300	0.0033	c.202 others(3): Show c.202G>A	p.Val others(5): Show p.Val68Ile	AHCY	ENSG00000101444.13	transcript	ENST00000217426.7	protein_coding	2/10	287/2150	202/1299	68/432	chr20	TogoVar
AHCY_chr20_34275268_34308355	34295502	G G	A A	missense_variant missense_variant	MODERATE	HG00639.hp1 HG00639.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0132 a0005c0008t0001g0132	1	300	0.0033	c.112 others(3): Show c.112C>T	p.Arg others(5): Show p.Arg38Trp	AHCY	ENSG00000101444.13	transcript	ENST00000217426.7	protein_coding	2/10	197/2150	112/1299	38/432	chr20	TogoVar
AHDC1_chr1_27529245_27609144	27548095	A A	C C	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01069.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0027 a0008c0014t0001g0027	1	180	0.0056	c.402 others(4): Show c.4021T>G	p.Cys others(7): Show p.Cys1341Gly	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	4922/6428	4021/4812	1341/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27549313	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp2 HG00621.hp1 others(176): Show HG00323.hp1 HG00323.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19066.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0005 others(18): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0001c0021 a0002c0003 a0003c0004 a0003c0009 a0004c0010 a0005c0019 a0006c0018 a0008c0014 a0009c0017 a0010c0020 a0011c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(33): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0005t0001 a0001c0006t0008 a0001c0007t0007 a0001c0007t0013 a0001c0008t0001 a0001c0008t0003 a0001c0011t0001 a0001c0013t0014 a0001c0015t0001 a0001c0016t0001 a0001c0021t0004 a0002c0003t0002 a0002c0003t0006 a0003c0004t0001 a0003c0004t0002 a0003c0004t0006 a0003c0004t0015 a0003c0009t0002 a0003c0009t0006 a0004c0010t0001 a0005c0019t0001 a0006c0018t0010 a0008c0014t0001 a0009c0017t0007 a0010c0020t0007 a0011c0022t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(168): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0003g0007 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0110 a0001c0001t0003g0164 a0001c0001t0004g0002 a0001c0001t0004g0030 a0001c0001t0004g0041 a0001c0001t0004g0047 a0001c0001t0004g0116 a0001c0001t0004g0129 a0001c0001t0004g0135 a0001c0001t0004g0156 a0001c0001t0005g0001 a0001c0001t0005g0168 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0009g0106 a0001c0001t0011g0090 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0093 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0140 a0001c0002t0001g0146 a0001c0002t0001g0152 a0001c0002t0009g0053 a0001c0002t0010g0083 a0001c0002t0012g0118 a0001c0005t0001g0049 a0001c0005t0001g0066 a0001c0005t0001g0117 a0001c0005t0001g0125 a0001c0005t0001g0137 a0001c0006t0008g0051 a0001c0006t0008g0067 a0001c0006t0008g0147 a0001c0007t0007g0060 a0001c0007t0007g0099 a0001c0007t0013g0163 a0001c0008t0001g0108 a0001c0008t0003g0020 a0001c0011t0001g0154 a0001c0013t0014g0059 a0001c0015t0001g0016 a0001c0016t0001g0037 a0001c0021t0004g0084 a0002c0003t0002g0005 a0002c0003t0002g0009 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0098 a0002c0003t0002g0104 a0002c0003t0002g0166 a0002c0003t0006g0144 a0003c0004t0001g0054 a0003c0004t0001g0107 a0003c0004t0002g0074 a0003c0004t0006g0014 a0003c0004t0006g0061 a0003c0004t0006g0075 a0003c0004t0015g0169 a0003c0009t0002g0065 a0003c0009t0006g0145 a0004c0010t0001g0010 a0004c0010t0001g0013 a0005c0019t0001g0160 a0006c0018t0010g0097 a0008c0014t0001g0027 a0009c0017t0007g0100 a0010c0020t0007g0103 a0011c0022t0001g0157	179	180	0.9944	c.280 others(4): Show c.2803G>A	p.Ala others(6): Show p.Ala935Thr	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	3704/6428	2803/4812	935/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27549519	T T	C C	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0007 a0009c0017t0007	a0009c0017t0007g0100 a0009c0017t0007g0100	1	180	0.0056	c.259 others(4): Show c.2597A>G	p.Lys others(6): Show p.Lys866Arg	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	3498/6428	2597/4812	866/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27550758	G G	A A	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01175.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0010 a0006c0018t0010	a0006c0018t0010g0097 a0006c0018t0010g0097	1	180	0.0056	c.135 others(4): Show c.1358C>T	p.Pro others(6): Show p.Pro453Leu	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	2259/6428	1358/4812	453/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27551284	G G	A A	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp2 HG01255.hp2 others(7): Show HG01070.hp1 HG01071.hp2 HG01255.hp2 HG02257.hp1 HG02818.hp1 HG02965.hp2 HG03209.hp1 HG03486.hp2 NA18906.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0006 a0002c0003t0002 a0002c0003t0006	a0002c0003t0002g0005 a0002c0003t0002g0009 a0002c0003t0002g0062 others(6): Show a0002c0003t0002g0005 a0002c0003t0002g0009 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0098 a0002c0003t0002g0104 a0002c0003t0002g0166 a0002c0003t0006g0144	10	180	0.0556	c.832 others(3): Show c.832C>T	p.Pro others(6): Show p.Pro278Ser	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	1733/6428	832/4812	278/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27551305	G G	C C	missense_variant missense_variant	MODERATE	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0019 a0005c0019	a0005c0019t0001 a0005c0019t0001	a0005c0019t0001g0160 a0005c0019t0001g0160	1	180	0.0056	c.811 others(3): Show c.811C>G	p.Pro others(6): Show p.Pro271Ala	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	1712/6428	811/4812	271/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27551454	G G	A A	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0007 a0010c0020t0007	a0010c0020t0007g0103 a0010c0020t0007g0103	1	180	0.0056	c.662 others(3): Show c.662C>T	p.Ala others(6): Show p.Ala221Val	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	1563/6428	662/4812	221/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27551646	G G	A A	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0157 a0011c0022t0001g0157	1	180	0.0056	c.470 others(3): Show c.470C>T	p.Ala others(6): Show p.Ala157Val	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	1371/6428	470/4812	157/1603	chr1	TogoVar
AHDC1_chr1_27529245_27609144	27551830	G G	A A	missense_variant missense_variant	MODERATE	HG02486.hp1 NA19043.hp2 HG02486.hp1 NA19043.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0010 a0004c0010t0001g0013 a0004c0010t0001g0010 a0004c0010t0001g0013	2	180	0.0111	c.286 others(3): Show c.286C>T	p.Arg others(5): Show p.Arg96Cys	AHDC1	ENSG00000126705.15	transcript	ENST00000673934.1	protein_coding	8/9	1187/6428	286/4812	96/1603	chr1	TogoVar
AHI1_chr6_135278532_135502740	135290465	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0003 a0009c0017t0003	a0009c0017t0003g0030 a0009c0017t0003g0030	1	220	0.0046	c.354 others(4): Show c.3546G>A	p.Met others(7): Show p.Met1182Ile	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	28/29	3905/6063	3546/3591	1182/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135323233	T T	C C	missense_variant missense_variant	MODERATE	HG02132.hp1 NA18747.hp2 NA19000.hp1 HG02132.hp1 NA18747.hp2 NA19000.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0094 a0003c0005t0001g0108 a0003c0005t0001g0110 a0003c0005t0001g0094 a0003c0005t0001g0108 a0003c0005t0001g0110	3	220	0.0136	c.325 others(4): Show c.3257A>G	p.Glu others(7): Show p.Glu1086Gly	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	25/29	3616/6063	3257/3591	1086/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135358133	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0003 a0008c0019t0003	a0008c0019t0003g0211 a0008c0019t0003g0211	1	220	0.0046	c.316 others(4): Show c.3164C>T	p.Thr others(7): Show p.Thr1055Met	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/29	3523/6063	3164/3591	1055/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135394832	T T	G G	missense_variant missense_variant	MODERATE	HG02109.hp2 HG03098.hp2 HG03195.hp1 others(1): Show HG02109.hp2 HG03098.hp2 HG03195.hp1 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0013 a0002c0004t0002g0014 a0002c0004t0002g0015 others(1): Show a0002c0004t0002g0013 a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0047	4	220	0.0182	c.305 others(4): Show c.3053A>C	p.Gln others(7): Show p.Gln1018Pro	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/29	3412/6063	3053/3591	1018/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135411508	T T	C C	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0004 a0010c0020t0004	a0010c0020t0004g0115 a0010c0020t0004g0115	1	220	0.0046	c.280 others(4): Show c.2801A>G	p.Asn others(6): Show p.Asn934Ser	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	21/29	3160/6063	2801/3591	934/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135427217	C C	G G	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02976.hp1 HG02280.hp2 HG02976.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0011 a0004c0007t0011	a0004c0007t0011g0072 a0004c0007t0011g0102 a0004c0007t0011g0072 a0004c0007t0011g0102	2	220	0.0091	c.271 others(4): Show c.2714G>C	p.Cys others(6): Show p.Cys905Ser	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	20/29	3073/6063	2714/3591	905/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135429886	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01516.hp1 HG01109.hp2 HG01516.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0068 a0005c0008t0001g0086 a0005c0008t0001g0068 a0005c0008t0001g0086	2	220	0.0091	c.248 others(4): Show c.2488C>T	p.Arg others(6): Show p.Arg830Trp	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	18/29	2847/6063	2488/3591	830/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135447144	C C	T T	missense_variant missense_variant	MODERATE	HG00738.hp2 HG00738.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0158 a0007c0012t0001g0158	1	220	0.0046	c.164 others(4): Show c.1643G>A	p.Arg others(6): Show p.Arg548His	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	13/29	2002/6063	1643/3591	548/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135457503	T T	G G	missense_variant missense_variant	MODERATE	HG01943.hp1 HG01943.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0089 a0011c0022t0001g0089	1	220	0.0046	c.114 others(4): Show c.1142A>C	p.Lys others(6): Show p.Lys381Thr	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	9/29	1501/6063	1142/3591	381/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135465839	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02257.hp2 HG01884.hp1 HG02257.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0008 a0006c0009t0008	a0006c0009t0008g0005 a0006c0009t0008g0006 a0006c0009t0008g0005 a0006c0009t0008g0006	2	220	0.0091	c.724 others(3): Show c.724C>T	p.Pro others(6): Show p.Pro242Ser	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	7/29	1083/6063	724/3591	242/1196	chr6	TogoVar
AHI1_chr6_135278532_135502740	135466046	C C	T T	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0059 a0012c0011t0001g0059	1	220	0.0046	c.517 others(3): Show c.517G>A	p.Ala others(6): Show p.Ala173Thr	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	7/29	876/6063	517/3591	173/1196	chr6	TogoVar
AHNAK2_chr14_104932253_104983374	104938197	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02809.hp2 HG03453.hp1 HG01884.hp1 HG02809.hp2 HG03453.hp1	a0061 a0062 a0098 a0061 a0062 a0098	a0061c0166 a0062c0167 a0098c0204 a0061c0166 a0062c0167 a0098c0204	a0061c0166t0002 a0062c0167t0002 a0098c0204t0002 a0061c0166t0002 a0062c0167t0002 a0098c0204t0002	a0061c0166t0002g0293 a0062c0167t0002g0230 a0098c0204t0002g0292 a0061c0166t0002g0293 a0062c0167t0002g0230 a0098c0204t0002g0292	3	356	0.0084	c.172 others(5): Show c.17254G>A	p.Gly others(7): Show p.Gly5752Arg	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	17391/18335	17254/17388	5752/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104938256	G G	A A	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02630.hp2 HG02723.hp2 others(3): Show HG02280.hp1 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG03130.hp1 HG03209.hp2	a0036 a0064 a0133 others(2): Show a0036 a0064 a0133 a0191 a0204	a0036c0030 a0064c0165 a0133c0097 others(2): Show a0036c0030 a0064c0165 a0133c0097 a0191c0150 a0204c0053	a0036c0030t0001 a0064c0165t0001 a0133c0097t0001 others(2): Show a0036c0030t0001 a0064c0165t0001 a0133c0097t0001 a0191c0150t0001 a0204c0053t0001	a0036c0030t0001g0018 a0064c0165t0001g0247 a0133c0097t0001g0116 others(2): Show a0036c0030t0001g0018 a0064c0165t0001g0247 a0133c0097t0001g0116 a0191c0150t0001g0090 a0204c0053t0001g0065	6	356	0.0169	c.171 others(5): Show c.17195C>T	p.Thr others(7): Show p.Thr5732Met	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	17332/18335	17195/17388	5732/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104938518	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0105 a0105	a0105c0211 a0105c0211	a0105c0211t0002 a0105c0211t0002	a0105c0211t0002g0061 a0105c0211t0002g0061	1	356	0.0028	c.169 others(5): Show c.16933C>T	p.Leu others(7): Show p.Leu5645Phe	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	17070/18335	16933/17388	5645/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104938523	C C	A A	missense_variant missense_variant	MODERATE	NA18966.hp2 NA18966.hp2	a0211 a0211	a0211c0247 a0211c0247	a0211c0247t0002 a0211c0247t0002	a0211c0247t0002g0206 a0211c0247t0002g0206	1	356	0.0028	c.169 others(5): Show c.16928G>T	p.Gly others(7): Show p.Gly5643Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	17065/18335	16928/17388	5643/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104938607	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00735.hp1	a0176 a0176	a0176c0135 a0176c0135	a0176c0135t0001 a0176c0135t0001	a0176c0135t0001g0077 a0176c0135t0001g0077	1	356	0.0028	c.168 others(5): Show c.16844C>T	p.Pro others(7): Show p.Pro5615Leu	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	16981/18335	16844/17388	5615/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104938739	C C	G G	missense_variant missense_variant	MODERATE	NA18968.hp2 NA18968.hp2	a0093 a0093	a0093c0192 a0093c0192	a0093c0192t0002 a0093c0192t0002	a0093c0192t0002g0197 a0093c0192t0002g0197	1	356	0.0028	c.167 others(5): Show c.16712G>C	p.Gly others(7): Show p.Gly5571Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	16849/18335	16712/17388	5571/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104938943	T T	A A	missense_variant missense_variant	MODERATE	HG01928.hp2 HG01928.hp2	a0168 a0168	a0168c0102 a0168c0102	a0168c0102t0001 a0168c0102t0001	a0168c0102t0001g0236 a0168c0102t0001g0236	1	356	0.0028	c.165 others(5): Show c.16508A>T	p.Glu others(7): Show p.Glu5503Val	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	16645/18335	16508/17388	5503/5795	chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104939262	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(189): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19058.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(114): Show a0001 a0004 a0006 a0009 a0010 a0011 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0034 a0035 a0044 a0046 a0052 a0053 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0093 a0094 a0095 a0096 a0097 a0098 a0100 a0101 a0102 a0103 a0104 a0105 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0125 a0126 a0127 a0128 a0130 a0131 a0132 a0144 a0149 a0157 a0161 a0169 a0170 a0173 a0179 a0180 a0182 a0183 a0195 a0196 a0203 a0205 a0207 a0208 a0209 a0210 a0211	a0001c0001 a0001c0003 a0001c0045 others(131): Show a0001c0001 a0001c0003 a0001c0045 a0004c0005 a0004c0157 a0004c0158 a0006c0006 a0006c0200 a0009c0043 a0009c0185 a0009c0186 a0010c0011 a0011c0012 a0015c0035 a0015c0122 a0015c0125 a0016c0041 a0016c0160 a0017c0015 a0018c0017 a0019c0016 a0020c0018 a0021c0219 a0021c0220 a0021c0244 a0022c0044 a0022c0215 a0025c0052 a0025c0248 a0026c0042 a0027c0189 a0027c0190 a0028c0019 a0029c0047 a0030c0223 a0030c0226 a0031c0046 a0032c0050 a0034c0048 a0035c0023 a0044c0049 a0046c0032 a0052c0208 a0052c0209 a0053c0246 a0055c0205 a0056c0159 a0057c0156 a0058c0155 a0059c0161 a0060c0162 a0061c0166 a0062c0167 a0065c0203 a0066c0202 a0067c0058 a0068c0169 a0069c0184 a0070c0170 a0071c0177 a0072c0178 a0073c0171 a0074c0179 a0077c0182 a0078c0175 a0079c0183 a0080c0180 a0081c0173 a0082c0174 a0083c0176 a0084c0181 a0085c0172 a0086c0188 a0087c0187 a0088c0198 a0089c0196 a0090c0195 a0091c0193 a0093c0192 a0094c0194 a0095c0197 a0096c0199 a0097c0201 a0098c0204 a0100c0062 a0101c0063 a0102c0064 a0103c0065 a0104c0212 a0105c0211 a0107c0234 a0108c0218 a0109c0222 a0110c0221 a0111c0232 a0112c0227 a0113c0216 a0114c0225 a0115c0217 a0116c0229 a0117c0224 a0118c0230 a0119c0228 a0120c0214 a0121c0231 a0122c0213 a0123c0233 a0125c0242 a0126c0240 a0127c0241 a0128c0239 a0130c0075 a0131c0235 a0132c0236 a0144c0238 a0149c0086 a0157c0080 a0161c0079 a0169c0237 a0170c0105 a0173c0114 a0179c0121 a0180c0120 a0182c0128 a0183c0130 a0195c0243 a0196c0207 a0203c0210 a0205c0245 a0207c0206 a0208c0056 a0209c0054 a0210c0055 a0211c0247	a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 others(131): Show a0001c0001t0002 a0001c0003t0002 a0001c0045t0002 a0004c0005t0004 a0004c0157t0004 a0004c0158t0004 a0006c0006t0002 a0006c0200t0002 a0009c0043t0002 a0009c0185t0002 a0009c0186t0002 a0010c0011t0002 a0011c0012t0002 a0015c0035t0002 a0015c0122t0002 a0015c0125t0002 a0016c0041t0006 a0016c0160t0006 a0017c0015t0002 a0018c0017t0005 a0019c0016t0005 a0020c0018t0002 a0021c0219t0002 a0021c0220t0002 a0021c0244t0002 a0022c0044t0002 a0022c0215t0002 a0025c0052t0002 a0025c0248t0002 a0026c0042t0002 a0027c0189t0002 a0027c0190t0002 a0028c0019t0009 a0029c0047t0002 a0030c0223t0007 a0030c0226t0007 a0031c0046t0002 a0032c0050t0003 a0034c0048t0003 a0035c0023t0002 a0044c0049t0003 a0046c0032t0002 a0052c0208t0002 a0052c0209t0002 a0053c0246t0002 a0055c0205t0002 a0056c0159t0004 a0057c0156t0010 a0058c0155t0004 a0059c0161t0013 a0060c0162t0006 a0061c0166t0002 a0062c0167t0002 a0065c0203t0002 a0066c0202t0005 a0067c0058t0002 a0068c0169t0002 a0069c0184t0002 a0070c0170t0002 a0071c0177t0002 a0072c0178t0002 a0073c0171t0002 a0074c0179t0003 a0077c0182t0003 a0078c0175t0002 a0079c0183t0003 a0080c0180t0002 a0081c0173t0002 a0082c0174t0003 a0083c0176t0003 a0084c0181t0002 a0085c0172t0002 a0086c0188t0002 a0087c0187t0002 a0088c0198t0002 a0089c0196t0002 a0090c0195t0002 a0091c0193t0001 a0093c0192t0002 a0094c0194t0002 a0095c0197t0005 a0096c0199t0002 a0097c0201t0002 a0098c0204t0002 a0100c0062t0002 a0101c0063t0002 a0102c0064t0003 a0103c0065t0003 a0104c0212t0002 a0105c0211t0002 a0107c0234t0002 a0108c0218t0002 a0109c0222t0007 a0110c0221t0002 a0111c0232t0002 a0112c0227t0007 a0113c0216t0002 a0114c0225t0002 a0115c0217t0002 a0116c0229t0002 a0117c0224t0002 a0118c0230t0002 a0119c0228t0002 a0120c0214t0002 a0121c0231t0002 a0122c0213t0015 a0123c0233t0002 a0125c0242t0003 a0126c0240t0003 a0127c0241t0003 a0128c0239t0003 a0130c0075t0002 a0131c0235t0003 a0132c0236t0003 a0144c0238t0003 a0149c0086t0002 a0157c0080t0003 a0161c0079t0012 a0169c0237t0003 a0170c0105t0002 a0173c0114t0002 a0179c0121t0002 a0180c0120t0002 a0182c0128t0002 a0183c0130t0002 a0195c0243t0003 a0196c0207t0002 a0203c0210t0003 a0205c0245t0002 a0207c0206t0002 a0208c0056t0003 a0209c0054t0003 a0210c0055t0003 a0211c0247t0002	a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 others(157): Show a0001c0001t0002g0001 a0001c0001t0002g0012 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0003t0002g0002 a0001c0003t0002g0055 a0001c0003t0002g0060 a0001c0003t0002g0264 a0001c0045t0002g0013 a0004c0005t0004g0010 a0004c0005t0004g0011 a0004c0005t0004g0040 a0004c0005t0004g0041 a0004c0005t0004g0043 a0004c0157t0004g0038 a0004c0158t0004g0039 a0006c0006t0002g0005 a0006c0006t0002g0029 a0006c0006t0002g0163 a0006c0200t0002g0199 a0009c0043t0002g0173 a0009c0043t0002g0194 a0009c0185t0002g0193 a0009c0186t0002g0195 a0010c0011t0002g0176 a0010c0011t0002g0179 a0010c0011t0002g0204 a0010c0011t0002g0219 a0011c0012t0002g0006 a0015c0035t0002g0020 a0015c0122t0002g0102 a0015c0125t0002g0084 a0016c0041t0006g0036 a0016c0041t0006g0045 a0016c0160t0006g0044 a0017c0015t0002g0030 a0017c0015t0002g0162 a0018c0017t0005g0008 a0019c0016t0005g0028 a0019c0016t0005g0177 a0020c0018t0002g0009 a0021c0219t0002g0260 a0021c0220t0002g0263 a0021c0244t0002g0261 a0022c0044t0002g0057 a0022c0044t0002g0059 a0022c0215t0002g0224 a0025c0052t0002g0014 a0025c0248t0002g0063 a0026c0042t0002g0124 a0026c0042t0002g0295 a0027c0189t0002g0227 a0027c0190t0002g0228 a0028c0019t0009g0049 a0028c0019t0009g0050 a0029c0047t0002g0031 a0030c0223t0007g0255 a0030c0226t0007g0256 a0031c0046t0002g0250 a0031c0046t0002g0257 a0032c0050t0003g0136 a0032c0050t0003g0145 a0034c0048t0003g0023 a0035c0023t0002g0017 a0044c0049t0003g0131 a0044c0049t0003g0133 a0046c0032t0002g0019 a0052c0208t0002g0231 a0052c0209t0002g0232 a0053c0246t0002g0074 a0055c0205t0002g0069 a0056c0159t0004g0042 a0057c0156t0010g0046 a0058c0155t0004g0047 a0059c0161t0013g0128 a0060c0162t0006g0035 a0061c0166t0002g0293 a0062c0167t0002g0230 a0065c0203t0002g0201 a0066c0202t0005g0203 a0067c0058t0002g0302 a0068c0169t0002g0071 a0069c0184t0002g0209 a0070c0170t0002g0246 a0071c0177t0002g0144 a0072c0178t0002g0298 a0073c0171t0002g0140 a0074c0179t0003g0297 a0077c0182t0003g0170 a0078c0175t0002g0192 a0079c0183t0003g0164 a0080c0180t0002g0181 a0081c0173t0002g0180 a0082c0174t0003g0072 a0083c0176t0003g0073 a0084c0181t0002g0159 a0085c0172t0002g0296 a0086c0188t0002g0182 a0087c0187t0002g0208 a0088c0198t0002g0175 a0089c0196t0002g0198 a0090c0195t0002g0205 a0091c0193t0001g0160 a0093c0192t0002g0197 a0094c0194t0002g0166 a0095c0197t0005g0178 a0096c0199t0002g0229 a0097c0201t0002g0200 a0098c0204t0002g0292 a0100c0062t0002g0154 a0101c0063t0002g0155 a0102c0064t0003g0157 a0103c0065t0003g0156 a0104c0212t0002g0259 a0105c0211t0002g0061 a0107c0234t0002g0252 a0108c0218t0002g0303 a0109c0222t0007g0254 a0110c0221t0002g0253 a0111c0232t0002g0066 a0112c0227t0007g0207 a0113c0216t0002g0058 a0114c0225t0002g0234 a0115c0217t0002g0064 a0116c0229t0002g0233 a0117c0224t0002g0249 a0118c0230t0002g0262 a0119c0228t0002g0258 a0120c0214t0002g0062 a0121c0231t0002g0251 a0122c0213t0015g0304 a0123c0233t0002g0299 a0125c0242t0003g0137 a0126c0240t0003g0146 a0127c0241t0003g0138 a0128c0239t0003g0135 a0130c0075t0002g0093 a0131c0235t0003g0132 a0132c0236t0003g0147 a0144c0238t0003g0070 a0149c0086t0002g0081 a0157c0080t0003g0121 a0161c0079t0012g0141 a0169c0237t0003g0139 a0170c0105t0002g0076 a0173c0114t0002g0288 a0179c0121t0002g0101 a0180c0120t0002g0279 a0182c0128t0002g0269 a0183c0130t0002g0105 a0195c0243t0003g0148 a0196c0207t0002g0153 a0203c0210t0003g0149 a0205c0245t0002g0067 a0207c0206t0002g0223 a0208c0056t0003g0115 a0209c0054t0003g0134 a0210c0055t0003g0114 a0211c0247t0002g0206	192	356	0.5393	c.161 others(5): Show c.16189C>G	p.Pro others(7): Show p.Pro5397Ala	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding	7/7	16326/18335	16189/17388	5397/5795	chr14	TogoVar

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