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
AASDH_chr4_56333290_56392491	56338591	C C	T T	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0001 a0013c0017t0001	a0013c0017t0001g0211 a0013c0017t0001g0211	1	382	0.0026	c.310 others(4): Show c.3108G>A	p.Met others(7): Show p.Met1036Ile	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	15/15	3280/3581	3108/3297	1036/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56338611	A A	C C	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00735.hp2 HG01069.hp1 others(96): Show HG00597.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG03098.hp2 HG03195.hp1 HG03239.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG04184.hp1 HG04199.hp2 NA18944.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18987.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19077.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0002 a0006 a0012 others(2): Show a0002 a0006 a0012 a0013 a0014	a0002c0002 a0002c0006 a0002c0024 others(5): Show a0002c0002 a0002c0006 a0002c0024 a0006c0009 a0006c0020 a0012c0015 a0013c0017 a0014c0016	a0002c0002t0001 a0002c0002t0007 a0002c0006t0001 others(6): Show a0002c0002t0001 a0002c0002t0007 a0002c0006t0001 a0002c0024t0001 a0006c0009t0004 a0006c0020t0001 a0012c0015t0001 a0013c0017t0001 a0014c0016t0001	a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0017 others(84): Show a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0329 a0002c0002t0007g0330 a0002c0006t0001g0024 a0002c0006t0001g0188 a0002c0006t0001g0228 a0002c0006t0001g0229 a0002c0006t0001g0230 a0002c0006t0001g0231 a0002c0006t0001g0236 a0002c0006t0001g0237 a0002c0024t0001g0234 a0006c0009t0004g0029 a0006c0009t0004g0331 a0006c0020t0001g0092 a0012c0015t0001g0194 a0013c0017t0001g0211 a0014c0016t0001g0218	99	382	0.2592	c.308 others(4): Show c.3088T>G	p.Tyr others(7): Show p.Tyr1030Asp	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	15/15	3260/3581	3088/3297	1030/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56342905	C C	T T	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02895.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0218 a0014c0016t0001g0218	1	382	0.0026	c.283 others(4): Show c.2837G>A	p.Cys others(6): Show p.Cys946Tyr	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	14/15	3009/3581	2837/3297	946/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56345186	T T	C C	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00735.hp2 HG01069.hp1 others(94): Show HG00597.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG03098.hp2 HG03239.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG04184.hp1 HG04199.hp2 NA18944.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18986.hp2 NA18987.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19077.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp1 NA21309.hp1	a0002 a0008 a0012 others(2): Show a0002 a0008 a0012 a0013 a0014	a0002c0002 a0002c0006 a0002c0024 others(4): Show a0002c0002 a0002c0006 a0002c0024 a0008c0011 a0012c0015 a0013c0017 a0014c0016	a0002c0002t0001 a0002c0002t0007 a0002c0006t0001 others(5): Show a0002c0002t0001 a0002c0002t0007 a0002c0006t0001 a0002c0024t0001 a0008c0011t0002 a0012c0015t0001 a0013c0017t0001 a0014c0016t0001	a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0017 others(83): Show a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0023 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0235 a0002c0002t0001g0329 a0002c0002t0007g0330 a0002c0006t0001g0024 a0002c0006t0001g0188 a0002c0006t0001g0228 a0002c0006t0001g0229 a0002c0006t0001g0230 a0002c0006t0001g0231 a0002c0006t0001g0236 a0002c0006t0001g0237 a0002c0024t0001g0234 a0008c0011t0002g0205 a0008c0011t0002g0206 a0012c0015t0001g0194 a0013c0017t0001g0211 a0014c0016t0001g0218	97	382	0.2539	c.259 others(4): Show c.2593A>G	p.Thr others(6): Show p.Thr865Ala	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	12/15	2765/3581	2593/3297	865/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56349392	T T	C C	missense_variant missense_variant	MODERATE	HG02145.hp2 HG03041.hp2 HG03130.hp2 others(2): Show HG02145.hp2 HG03041.hp2 HG03130.hp2 NA18522.hp1 NA20300.hp2	a0007 a0011 a0007 a0011	a0007c0008 a0011c0014 a0007c0008 a0011c0014	a0007c0008t0001 a0011c0014t0001 a0007c0008t0001 a0011c0014t0001	a0007c0008t0001g0059 a0007c0008t0001g0060 a0007c0008t0001g0061 others(2): Show a0007c0008t0001g0059 a0007c0008t0001g0060 a0007c0008t0001g0061 a0007c0008t0001g0326 a0011c0014t0001g0282	5	382	0.0131	c.235 others(4): Show c.2359A>G	p.Ile others(6): Show p.Ile787Val	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	11/15	2531/3581	2359/3297	787/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56349428	T T	C C	missense_variant missense_variant	MODERATE	NA18954.hp2 NA18954.hp2	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0001 a0015c0021t0001	a0015c0021t0001g0325 a0015c0021t0001g0325	1	382	0.0026	c.232 others(4): Show c.2323A>G	p.Ile others(6): Show p.Ile775Val	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	11/15	2495/3581	2323/3297	775/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56349431	C C	T T	missense_variant missense_variant	MODERATE	NA18997.hp2 NA18997.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0194 a0012c0015t0001g0194	1	382	0.0026	c.232 others(4): Show c.2320G>A	p.Val others(6): Show p.Val774Ile	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	11/15	2492/3581	2320/3297	774/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56349511	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(75): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02083.hp1 HG02148.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18966.hp2 NA18989.hp1 NA19030.hp2 NA19060.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0003 a0018 a0003 a0018	a0003c0003 a0018c0023 a0003c0003 a0018c0023	a0003c0003t0001 a0003c0003t0002 a0018c0023t0002 a0003c0003t0001 a0003c0003t0002 a0018c0023t0002	a0003c0003t0001g0220 a0003c0003t0002g0003 a0003c0003t0002g0010 others(67): Show a0003c0003t0001g0220 a0003c0003t0002g0003 a0003c0003t0002g0010 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0042 a0003c0003t0002g0044 a0003c0003t0002g0045 a0003c0003t0002g0046 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0049 a0003c0003t0002g0052 a0003c0003t0002g0238 a0003c0003t0002g0239 a0003c0003t0002g0240 a0003c0003t0002g0241 a0003c0003t0002g0243 a0003c0003t0002g0244 a0003c0003t0002g0245 a0003c0003t0002g0246 a0003c0003t0002g0247 a0003c0003t0002g0248 a0003c0003t0002g0249 a0003c0003t0002g0250 a0003c0003t0002g0251 a0003c0003t0002g0252 a0003c0003t0002g0253 a0003c0003t0002g0254 a0003c0003t0002g0255 a0003c0003t0002g0256 a0003c0003t0002g0257 a0003c0003t0002g0258 a0003c0003t0002g0259 a0003c0003t0002g0260 a0003c0003t0002g0261 a0003c0003t0002g0262 a0003c0003t0002g0263 a0003c0003t0002g0264 a0003c0003t0002g0265 a0003c0003t0002g0266 a0003c0003t0002g0267 a0003c0003t0002g0268 a0003c0003t0002g0269 a0003c0003t0002g0270 a0003c0003t0002g0271 a0003c0003t0002g0272 a0003c0003t0002g0273 a0003c0003t0002g0274 a0003c0003t0002g0275 a0003c0003t0002g0276 a0003c0003t0002g0277 a0003c0003t0002g0278 a0003c0003t0002g0279 a0003c0003t0002g0286 a0003c0003t0002g0287 a0003c0003t0002g0288 a0003c0003t0002g0289 a0003c0003t0002g0290 a0003c0003t0002g0291 a0003c0003t0002g0292 a0003c0003t0002g0293 a0003c0003t0002g0294 a0003c0003t0002g0295 a0003c0003t0002g0296 a0003c0003t0002g0297 a0003c0003t0002g0327 a0003c0003t0002g0328 a0018c0023t0002g0043	78	382	0.2042	c.224 others(4): Show c.2240C>T	p.Ala others(6): Show p.Ala747Val	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	11/15	2412/3581	2240/3297	747/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56349637	G G	A A	missense_variant missense_variant	MODERATE	HG01261.hp1 HG03654.hp2 HG01261.hp1 HG03654.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0152 a0009c0012t0001g0153 a0009c0012t0001g0152 a0009c0012t0001g0153	2	382	0.0052	c.211 others(4): Show c.2114C>T	p.Ala others(6): Show p.Ala705Val	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	11/15	2286/3581	2114/3297	705/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56349803	C C	T T	missense_variant missense_variant	MODERATE	HG03491.hp2 HG03491.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0167 a0016c0018t0001g0167	1	382	0.0026	c.194 others(4): Show c.1948G>A	p.Asp others(6): Show p.Asp650Asn	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	11/15	2120/3581	1948/3297	650/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56355182	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(54): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG01261.hp1 HG01891.hp1 HG02015.hp1 HG02080.hp2 HG02523.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20905.hp2	a0004 a0009 a0017 a0004 a0009 a0017	a0004c0004 a0004c0025 a0009c0012 others(1): Show a0004c0004 a0004c0025 a0009c0012 a0017c0022	a0004c0004t0001 a0004c0004t0006 a0004c0025t0001 others(2): Show a0004c0004t0001 a0004c0004t0006 a0004c0025t0001 a0009c0012t0001 a0017c0022t0001	a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0020 others(46): Show a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0041 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0130 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0001g0133 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0004t0001g0139 a0004c0004t0001g0140 a0004c0004t0001g0141 a0004c0004t0001g0142 a0004c0004t0001g0143 a0004c0004t0001g0144 a0004c0004t0001g0145 a0004c0004t0001g0146 a0004c0004t0001g0147 a0004c0004t0001g0148 a0004c0004t0001g0149 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0154 a0004c0004t0001g0155 a0004c0004t0001g0156 a0004c0004t0001g0169 a0004c0004t0001g0170 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0173 a0004c0004t0001g0221 a0004c0004t0001g0222 a0004c0004t0001g0223 a0004c0004t0001g0224 a0004c0004t0001g0225 a0004c0004t0006g0031 a0004c0025t0001g0126 a0009c0012t0001g0152 a0009c0012t0001g0153 a0017c0022t0001g0109	57	382	0.1492	c.110 others(4): Show c.1103A>G	p.Lys others(6): Show p.Lys368Arg	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	6/15	1275/3581	1103/3297	368/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56371486	C C	T T	missense_variant missense_variant	MODERATE	NA20300.hp2 NA20300.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0282 a0011c0014t0001g0282	1	382	0.0026	c.826 others(3): Show c.826G>A	p.Val others(6): Show p.Val276Ile	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	5/15	998/3581	826/3297	276/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56378283	T T	C C	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0002 a0018c0023t0002	a0018c0023t0002g0043 a0018c0023t0002g0043	1	382	0.0026	c.533 others(3): Show c.533A>G	p.Glu others(6): Show p.Glu178Gly	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	4/15	705/3581	533/3297	178/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56382550	G G	C C	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(53): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG01261.hp1 HG01891.hp1 HG02015.hp1 HG02080.hp2 HG02523.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20905.hp2	a0004 a0009 a0004 a0009	a0004c0004 a0004c0025 a0009c0012 a0004c0004 a0004c0025 a0009c0012	a0004c0004t0001 a0004c0004t0006 a0004c0025t0001 others(1): Show a0004c0004t0001 a0004c0004t0006 a0004c0025t0001 a0009c0012t0001	a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0020 others(45): Show a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0041 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0130 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0001g0133 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0004t0001g0139 a0004c0004t0001g0140 a0004c0004t0001g0141 a0004c0004t0001g0142 a0004c0004t0001g0143 a0004c0004t0001g0144 a0004c0004t0001g0145 a0004c0004t0001g0146 a0004c0004t0001g0147 a0004c0004t0001g0148 a0004c0004t0001g0149 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0154 a0004c0004t0001g0155 a0004c0004t0001g0156 a0004c0004t0001g0169 a0004c0004t0001g0170 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0173 a0004c0004t0001g0221 a0004c0004t0001g0222 a0004c0004t0001g0223 a0004c0004t0001g0224 a0004c0004t0001g0225 a0004c0004t0006g0031 a0004c0025t0001g0126 a0009c0012t0001g0152 a0009c0012t0001g0153	56	382	0.1466	c.278 others(3): Show c.278C>G	p.Pro others(5): Show p.Pro93Arg	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/15	450/3581	278/3297	93/1098	chr4	TogoVar
AASDH_chr4_56333290_56392491	56384119	T T	C C	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00423.hp1 HG00423.hp2 others(53): Show HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG01261.hp1 HG01891.hp1 HG02015.hp1 HG02080.hp2 HG02523.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18994.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19055.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20905.hp2	a0004 a0009 a0004 a0009	a0004c0004 a0004c0025 a0009c0012 a0004c0004 a0004c0025 a0009c0012	a0004c0004t0001 a0004c0004t0006 a0004c0025t0001 others(1): Show a0004c0004t0001 a0004c0004t0006 a0004c0025t0001 a0009c0012t0001	a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0020 others(45): Show a0004c0004t0001g0005 a0004c0004t0001g0008 a0004c0004t0001g0020 a0004c0004t0001g0021 a0004c0004t0001g0022 a0004c0004t0001g0041 a0004c0004t0001g0127 a0004c0004t0001g0128 a0004c0004t0001g0129 a0004c0004t0001g0130 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0001g0133 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0137 a0004c0004t0001g0138 a0004c0004t0001g0139 a0004c0004t0001g0140 a0004c0004t0001g0141 a0004c0004t0001g0142 a0004c0004t0001g0143 a0004c0004t0001g0144 a0004c0004t0001g0145 a0004c0004t0001g0146 a0004c0004t0001g0147 a0004c0004t0001g0148 a0004c0004t0001g0149 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0154 a0004c0004t0001g0155 a0004c0004t0001g0156 a0004c0004t0001g0169 a0004c0004t0001g0170 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0173 a0004c0004t0001g0221 a0004c0004t0001g0222 a0004c0004t0001g0223 a0004c0004t0001g0224 a0004c0004t0001g0225 a0004c0004t0006g0031 a0004c0025t0001g0126 a0009c0012t0001g0152 a0009c0012t0001g0153	56	382	0.1466	c.181 others(3): Show c.181A>G	p.Ile others(5): Show p.Ile61Val	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	2/15	353/3581	181/3297	61/1098	chr4	TogoVar
AASS_chr7_122068549_122149249	122076515	T T	A A	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0011 a0004c0005t0008g0011	2	384	0.0052	c.275 others(4): Show c.2755A>T	p.Thr others(6): Show p.Thr919Ser	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	24/24	2859/5825	2755/2781	919/926	chr7	TogoVar
AASS_chr7_122068549_122149249	122076556	C C	T T	missense_variant missense_variant	MODERATE	HG00544.hp1 HG02080.hp1 NA18992.hp1 HG00544.hp1 HG02080.hp1 NA18992.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0129 a0003c0004t0001g0136 a0003c0004t0001g0139 a0003c0004t0001g0129 a0003c0004t0001g0136 a0003c0004t0001g0139	3	384	0.0078	c.271 others(4): Show c.2714G>A	p.Gly others(6): Show p.Gly905Glu	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	24/24	2818/5825	2714/2781	905/926	chr7	TogoVar
AASS_chr7_122068549_122149249	122078888	T T	C C	missense_variant missense_variant	MODERATE	HG02896.hp2 HG02897.hp1 NA18906.hp2 others(1): Show HG02896.hp2 HG02897.hp1 NA18906.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 others(1): Show a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257	4	384	0.0104	c.245 others(4): Show c.2459A>G	p.Lys others(6): Show p.Lys820Arg	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	22/24	2563/5825	2459/2781	820/926	chr7	TogoVar
AASS_chr7_122068549_122149249	122079679	G G	C C	missense_variant missense_variant	MODERATE	HG02027.hp2 HG02027.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0040 a0008c0009t0002g0040	1	384	0.0026	c.231 others(4): Show c.2314C>G	p.Pro others(6): Show p.Pro772Ala	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	21/24	2418/5825	2314/2781	772/926	chr7	TogoVar
AASS_chr7_122068549_122149249	122086155	A A	C C	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00621.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0004 a0007c0008t0004	a0007c0008t0004g0160 a0007c0008t0004g0160	1	384	0.0026	c.204 others(4): Show c.2041T>G	p.Ser others(6): Show p.Ser681Ala	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	19/24	2145/5825	2041/2781	681/926	chr7	TogoVar
AASS_chr7_122068549_122149249	122093136	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00323.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0007 a0009c0010t0007	a0009c0010t0007g0143 a0009c0010t0007g0143	1	384	0.0026	c.167 others(4): Show c.1678C>T	p.Pro others(6): Show p.Pro560Ser	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	16/24	1782/5825	1678/2781	560/926	chr7	TogoVar
AASS_chr7_122068549_122149249	122098525	T T	G G	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0011 a0010c0011t0011	a0010c0011t0011g0049 a0010c0011t0011g0049	1	384	0.0026	c.158 others(4): Show c.1580A>C	p.Asn others(6): Show p.Asn527Thr	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	15/24	1684/5825	1580/2781	527/926	chr7	TogoVar
AASS_chr7_122068549_122149249	122098821	C C	A A	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0003 a0006c0012t0003	a0006c0012t0003g0290 a0006c0012t0003g0290	1	384	0.0026	c.145 others(4): Show c.1452G>T	p.Leu others(6): Show p.Leu484Phe	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	14/24	1556/5825	1452/2781	484/926	chr7	TogoVar
AASS_chr7_122068549_122149249	122101667	G G	A A	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02897.hp2 NA21309.hp1 HG02895.hp1 HG02897.hp2 NA21309.hp1	a0004 a0011 a0004 a0011	a0004c0005 a0011c0013 a0004c0005 a0011c0013	a0004c0005t0008 a0011c0013t0001 a0004c0005t0008 a0011c0013t0001	a0004c0005t0008g0011 a0011c0013t0001g0058 a0004c0005t0008g0011 a0011c0013t0001g0058	3	384	0.0078	c.129 others(4): Show c.1292C>T	p.Ala others(6): Show p.Ala431Val	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	12/24	1396/5825	1292/2781	431/926	chr7	TogoVar
AASS_chr7_122068549_122149249	122126429	C C	T T	missense_variant missense_variant	MODERATE	HG02135.hp1 HG02135.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0003 a0005c0007t0003	a0005c0007t0003g0281 a0005c0007t0003g0281	1	384	0.0026	c.418 others(3): Show c.418G>A	p.Val others(6): Show p.Val140Met	AASS	ENSG00000008311.16	transcript	ENST00000417368.7	protein_coding	4/24	522/5825	418/2781	140/926	chr7	TogoVar
AATF_chr17_36943954_37061871	36950225	A A	G G	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0018 a0004c0010t0001g0018	1	245	0.0041	c.103 others(3): Show c.103A>G	p.Arg others(5): Show p.Arg35Gly	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	2/12	275/2062	103/1683	35/560	chr17	TogoVar
AATF_chr17_36943954_37061871	36950372	G G	A A	missense_variant missense_variant	MODERATE	NA20300.hp2 NA20300.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0036 a0006c0006t0001g0036	1	245	0.0041	c.250 others(3): Show c.250G>A	p.Asp others(5): Show p.Asp84Asn	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	2/12	422/2062	250/1683	84/560	chr17	TogoVar
AATF_chr17_36943954_37061871	36952895	T T	C C	missense_variant missense_variant	MODERATE	HG02647.hp1 HG03098.hp2 HG03540.hp1 others(1): Show HG02647.hp1 HG03098.hp2 HG03540.hp1 NA18906.hp1	a0003 a0003	a0003c0005 a0003c0007 a0003c0005 a0003c0007	a0003c0005t0001 a0003c0007t0001 a0003c0005t0001 a0003c0007t0001	a0003c0005t0001g0013 a0003c0005t0001g0093 a0003c0005t0001g0095 others(1): Show a0003c0005t0001g0013 a0003c0005t0001g0093 a0003c0005t0001g0095 a0003c0007t0001g0094	4	245	0.0163	c.293 others(3): Show c.293T>C	p.Ile others(5): Show p.Ile98Thr	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	3/12	465/2062	293/1683	98/560	chr17	TogoVar
AATF_chr17_36943954_37061871	36953122	G G	A A	missense_variant missense_variant	MODERATE	HG02135.hp2 HG02293.hp2 HG02723.hp1 others(3): Show HG02135.hp2 HG02293.hp2 HG02723.hp1 HG03834.hp1 HG06807.hp1 NA19068.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0008 a0002c0004 a0005c0008	a0002c0004t0001 a0005c0008t0001 a0002c0004t0001 a0005c0008t0001	a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0099 others(3): Show a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0102 a0005c0008t0001g0101	6	245	0.0245	c.520 others(3): Show c.520G>A	p.Glu others(6): Show p.Glu174Lys	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	3/12	692/2062	520/1683	174/560	chr17	TogoVar
AATF_chr17_36943954_37061871	37056614	C C	T T	missense_variant missense_variant	MODERATE	HG02293.hp2 HG02293.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0101 a0005c0008t0001g0101	1	245	0.0041	c.163 others(4): Show c.1633C>T	p.Arg others(6): Show p.Arg545Cys	AATF	ENSG00000275700.6	transcript	ENST00000619387.5	protein_coding	12/12	1805/2062	1633/1683	545/560	chr17	TogoVar
AATK_chr17_81112295_81171221	81119470	C C	T T	missense_variant missense_variant	MODERATE	HG01928.hp1 HG01928.hp1	a0028 a0028	a0028c0051 a0028c0051	a0028c0051t0001 a0028c0051t0001	a0028c0051t0001g0029 a0028c0051t0001g0029	1	368	0.0027	c.399 others(4): Show c.3994G>A	p.Ala others(7): Show p.Ala1332Thr	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/14	4223/5461	3994/4125	1332/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81119475	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG01361.hp2 HG02257.hp1 others(16): Show HG00099.hp2 HG01361.hp2 HG02257.hp1 HG02280.hp2 HG02630.hp2 HG02717.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp1 HG03540.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0005 a0017 a0005 a0017	a0005c0006 a0005c0021 a0005c0033 others(2): Show a0005c0006 a0005c0021 a0005c0033 a0005c0059 a0017c0074	a0005c0006t0003 a0005c0006t0014 a0005c0006t0021 others(4): Show a0005c0006t0003 a0005c0006t0014 a0005c0006t0021 a0005c0021t0001 a0005c0033t0020 a0005c0059t0003 a0017c0074t0001	a0005c0006t0003g0018 a0005c0006t0003g0115 a0005c0006t0003g0187 others(15): Show a0005c0006t0003g0018 a0005c0006t0003g0115 a0005c0006t0003g0187 a0005c0006t0003g0230 a0005c0006t0003g0232 a0005c0006t0003g0263 a0005c0006t0003g0294 a0005c0006t0003g0295 a0005c0006t0003g0300 a0005c0006t0003g0301 a0005c0006t0003g0328 a0005c0006t0014g0293 a0005c0006t0021g0345 a0005c0021t0001g0206 a0005c0021t0001g0337 a0005c0033t0020g0324 a0005c0059t0003g0233 a0017c0074t0001g0182	19	368	0.0516	c.398 others(4): Show c.3989C>T	p.Thr others(7): Show p.Thr1330Met	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/14	4218/5461	3989/4125	1330/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81119524	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01978.hp2 NA18966.hp2 HG01109.hp1 HG01978.hp2 NA18966.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0001 a0011c0018t0001	a0011c0018t0001g0072 a0011c0018t0001g0080 a0011c0018t0001g0090 a0011c0018t0001g0072 a0011c0018t0001g0080 a0011c0018t0001g0090	3	368	0.0082	c.394 others(4): Show c.3940G>A	p.Ala others(7): Show p.Ala1314Thr	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	13/14	4169/5461	3940/4125	1314/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81119971	G G	C C	missense_variant missense_variant	MODERATE	NA19072.hp2 NA19072.hp2	a0029 a0029	a0029c0050 a0029c0050	a0029c0050t0001 a0029c0050t0001	a0029c0050t0001g0287 a0029c0050t0001g0287	1	368	0.0027	c.384 others(4): Show c.3848C>G	p.Ala others(7): Show p.Ala1283Gly	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	12/14	4077/5461	3848/4125	1283/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81119972	C C	G G	missense_variant missense_variant	MODERATE	NA19072.hp2 NA19072.hp2	a0029 a0029	a0029c0050 a0029c0050	a0029c0050t0001 a0029c0050t0001	a0029c0050t0001g0287 a0029c0050t0001g0287	1	368	0.0027	c.384 others(4): Show c.3847G>C	p.Ala others(7): Show p.Ala1283Pro	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	12/14	4076/5461	3847/4125	1283/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81120022	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(116): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02965.hp2 HG03017.hp1 HG03130.hp2 HG03239.hp2 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18966.hp2 NA18967.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp1 NA18993.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19091.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0007 others(7): Show a0002 a0004 a0007 a0010 a0011 a0018 a0028 a0029 a0031 a0034	a0002c0002 a0002c0032 a0002c0057 others(19): Show a0002c0002 a0002c0032 a0002c0057 a0002c0061 a0002c0064 a0002c0073 a0002c0075 a0004c0005 a0004c0029 a0004c0035 a0004c0062 a0007c0008 a0007c0031 a0007c0071 a0010c0014 a0010c0030 a0011c0018 a0018c0072 a0028c0051 a0029c0050 a0031c0049 a0034c0038	a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 others(25): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0017 a0002c0002t0018 a0002c0032t0001 a0002c0057t0001 a0002c0061t0001 a0002c0064t0001 a0002c0073t0007 a0002c0075t0001 a0004c0005t0001 a0004c0005t0005 a0004c0029t0001 a0004c0035t0001 a0004c0062t0001 a0007c0008t0001 a0007c0008t0015 a0007c0031t0001 a0007c0071t0001 a0010c0014t0001 a0010c0030t0001 a0011c0018t0001 a0018c0072t0001 a0028c0051t0001 a0029c0050t0001 a0031c0049t0001 a0034c0038t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0016 others(109): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0110 a0002c0002t0001g0117 a0002c0002t0001g0128 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0161 a0002c0002t0001g0171 a0002c0002t0001g0185 a0002c0002t0001g0193 a0002c0002t0001g0203 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0259 a0002c0002t0001g0270 a0002c0002t0001g0275 a0002c0002t0001g0282 a0002c0002t0001g0290 a0002c0002t0001g0304 a0002c0002t0001g0327 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0006g0218 a0002c0002t0007g0140 a0002c0002t0007g0148 a0002c0002t0007g0175 a0002c0002t0017g0097 a0002c0002t0018g0151 a0002c0032t0001g0292 a0002c0057t0001g0241 a0002c0061t0001g0044 a0002c0064t0001g0269 a0002c0073t0007g0196 a0002c0075t0001g0344 a0004c0005t0001g0015 a0004c0005t0001g0057 a0004c0005t0001g0058 a0004c0005t0001g0059 a0004c0005t0001g0065 a0004c0005t0001g0077 a0004c0005t0001g0086 a0004c0005t0001g0113 a0004c0005t0001g0122 a0004c0005t0001g0180 a0004c0005t0001g0181 a0004c0005t0001g0253 a0004c0005t0001g0258 a0004c0005t0001g0317 a0004c0005t0005g0024 a0004c0029t0001g0021 a0004c0035t0001g0114 a0004c0062t0001g0200 a0007c0008t0001g0068 a0007c0008t0001g0091 a0007c0008t0001g0118 a0007c0008t0001g0130 a0007c0008t0001g0215 a0007c0008t0001g0227 a0007c0008t0001g0229 a0007c0008t0001g0320 a0007c0008t0015g0201 a0007c0031t0001g0261 a0007c0071t0001g0204 a0010c0014t0001g0020 a0010c0014t0001g0251 a0010c0030t0001g0289 a0011c0018t0001g0072 a0011c0018t0001g0080 a0011c0018t0001g0090 a0018c0072t0001g0322 a0028c0051t0001g0029 a0029c0050t0001g0287 a0031c0049t0001g0067 a0034c0038t0001g0169	119	368	0.3234	c.379 others(4): Show c.3797T>C	p.Phe others(7): Show p.Phe1266Ser	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	12/14	4026/5461	3797/4125	1266/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81120490	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp2 HG02258.hp1 others(5): Show HG01167.hp2 HG01169.hp2 HG02258.hp1 HG02723.hp1 HG02886.hp2 HG02970.hp1 HG02970.hp2 HG03453.hp2	a0009 a0025 a0027 a0009 a0025 a0027	a0009c0019 a0009c0025 a0009c0065 others(2): Show a0009c0019 a0009c0025 a0009c0065 a0025c0070 a0027c0048	a0009c0019t0004 a0009c0025t0004 a0009c0065t0004 others(2): Show a0009c0019t0004 a0009c0025t0004 a0009c0065t0004 a0025c0070t0004 a0027c0048t0004	a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 others(5): Show a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 a0009c0025t0004g0334 a0009c0025t0004g0336 a0009c0065t0004g0236 a0025c0070t0004g0183 a0027c0048t0004g0310	8	368	0.0217	c.344 others(4): Show c.3446G>A	p.Gly others(7): Show p.Gly1149Asp	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	3675/5461	3446/4125	1149/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81120638	A A	C C	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0030 a0030	a0030c0043 a0030c0043	a0030c0043t0002 a0030c0043t0002	a0030c0043t0002g0312 a0030c0043t0002g0312	1	368	0.0027	c.329 others(4): Show c.3298T>G	p.Phe others(7): Show p.Phe1100Val	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	3527/5461	3298/4125	1100/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81120695	G G	A A	missense_variant missense_variant	MODERATE	HG03927.hp1 HG03927.hp1	a0031 a0031	a0031c0049 a0031c0049	a0031c0049t0001 a0031c0049t0001	a0031c0049t0001g0067 a0031c0049t0001g0067	1	368	0.0027	c.324 others(4): Show c.3241C>T	p.Pro others(7): Show p.Pro1081Ser	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	3470/5461	3241/4125	1081/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81120956	C C	T T	missense_variant missense_variant	MODERATE	HG03927.hp1 HG03927.hp1	a0031 a0031	a0031c0049 a0031c0049	a0031c0049t0001 a0031c0049t0001	a0031c0049t0001g0067 a0031c0049t0001g0067	1	368	0.0027	c.298 others(4): Show c.2980G>A	p.Asp others(6): Show p.Asp994Asn	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	3209/5461	2980/4125	994/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121265	G G	A A	missense_variant missense_variant	MODERATE	HG01934.hp1 HG01934.hp1	a0026 a0026	a0026c0046 a0026c0046	a0026c0046t0002 a0026c0046t0002	a0026c0046t0002g0298 a0026c0046t0002g0298	1	368	0.0027	c.267 others(4): Show c.2671C>T	p.Arg others(6): Show p.Arg891Cys	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2900/5461	2671/4125	891/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121285	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp2 HG02258.hp1 others(6): Show HG01167.hp2 HG01169.hp2 HG02258.hp1 HG02723.hp1 HG02970.hp1 HG02970.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1	a0009 a0019 a0020 others(1): Show a0009 a0019 a0020 a0025	a0009c0019 a0009c0025 a0009c0065 others(3): Show a0009c0019 a0009c0025 a0009c0065 a0019c0067 a0020c0068 a0025c0070	a0009c0019t0004 a0009c0025t0004 a0009c0065t0004 others(3): Show a0009c0019t0004 a0009c0025t0004 a0009c0065t0004 a0019c0067t0004 a0020c0068t0004 a0025c0070t0004	a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 others(6): Show a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 a0009c0025t0004g0334 a0009c0025t0004g0336 a0009c0065t0004g0236 a0019c0067t0004g0333 a0020c0068t0004g0231 a0025c0070t0004g0183	9	368	0.0245	c.265 others(4): Show c.2651C>T	p.Pro others(6): Show p.Pro884Leu	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2880/5461	2651/4125	884/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121559	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02630.hp1	a0032 a0032	a0032c0041 a0032c0041	a0032c0041t0006 a0032c0041t0006	a0032c0041t0006g0341 a0032c0041t0006g0341	1	368	0.0027	c.237 others(4): Show c.2377C>T	p.Arg others(6): Show p.Arg793Cys	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2606/5461	2377/4125	793/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121559	G G	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG03225.hp2 HG03516.hp1 HG02055.hp2 HG03225.hp2 HG03516.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0008 a0013c0015t0008	a0013c0015t0008g0001 a0013c0015t0008g0001	3	368	0.0082	c.237 others(4): Show c.2377C>A	p.Arg others(6): Show p.Arg793Ser	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2606/5461	2377/4125	793/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121789	C C	T T	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02895.hp1 HG02809.hp1 HG02895.hp1	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0012 a0015c0022t0012	a0015c0022t0012g0246 a0015c0022t0012g0266 a0015c0022t0012g0246 a0015c0022t0012g0266	2	368	0.0054	c.214 others(4): Show c.2147G>A	p.Arg others(6): Show p.Arg716Gln	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2376/5461	2147/4125	716/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121829	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(196): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18943.hp2 NA18945.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18960.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp2 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 others(20): Show a0002 a0003 a0006 a0008 a0009 a0010 a0011 a0015 a0016 a0019 a0020 a0022 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0033 a0034 a0036	a0002c0002 a0002c0032 a0002c0057 others(44): Show a0002c0002 a0002c0032 a0002c0057 a0002c0061 a0002c0064 a0002c0073 a0002c0075 a0003c0003 a0003c0007 a0003c0009 a0003c0020 a0003c0023 a0003c0024 a0003c0027 a0003c0044 a0003c0045 a0003c0047 a0003c0058 a0006c0012 a0006c0013 a0006c0017 a0006c0042 a0006c0056 a0006c0069 a0008c0010 a0009c0019 a0009c0025 a0009c0065 a0010c0014 a0010c0030 a0011c0018 a0015c0022 a0016c0026 a0019c0067 a0020c0068 a0022c0054 a0024c0052 a0025c0070 a0026c0046 a0027c0048 a0028c0051 a0029c0050 a0030c0043 a0031c0049 a0033c0039 a0034c0038 a0036c0037	a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 others(53): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0017 a0002c0002t0018 a0002c0032t0001 a0002c0057t0001 a0002c0061t0001 a0002c0064t0001 a0002c0073t0007 a0002c0075t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0006 a0003c0007t0001 a0003c0007t0019 a0003c0009t0001 a0003c0009t0005 a0003c0020t0001 a0003c0023t0001 a0003c0024t0001 a0003c0027t0001 a0003c0044t0002 a0003c0045t0002 a0003c0047t0001 a0003c0058t0002 a0006c0012t0001 a0006c0012t0010 a0006c0013t0001 a0006c0017t0002 a0006c0042t0011 a0006c0056t0011 a0006c0069t0001 a0008c0010t0002 a0009c0019t0004 a0009c0025t0004 a0009c0065t0004 a0010c0014t0001 a0010c0030t0001 a0011c0018t0001 a0015c0022t0012 a0016c0026t0001 a0019c0067t0004 a0020c0068t0004 a0022c0054t0001 a0024c0052t0001 a0025c0070t0004 a0026c0046t0002 a0027c0048t0004 a0028c0051t0001 a0029c0050t0001 a0030c0043t0002 a0031c0049t0001 a0033c0039t0001 a0034c0038t0001 a0036c0037t0002	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0016 others(185): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0055 a0002c0002t0001g0061 a0002c0002t0001g0066 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0078 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0110 a0002c0002t0001g0117 a0002c0002t0001g0128 a0002c0002t0001g0134 a0002c0002t0001g0137 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0161 a0002c0002t0001g0171 a0002c0002t0001g0185 a0002c0002t0001g0193 a0002c0002t0001g0203 a0002c0002t0001g0207 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0259 a0002c0002t0001g0270 a0002c0002t0001g0275 a0002c0002t0001g0282 a0002c0002t0001g0290 a0002c0002t0001g0304 a0002c0002t0001g0327 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0006g0218 a0002c0002t0007g0140 a0002c0002t0007g0148 a0002c0002t0007g0175 a0002c0002t0017g0097 a0002c0002t0018g0151 a0002c0032t0001g0292 a0002c0057t0001g0241 a0002c0061t0001g0044 a0002c0064t0001g0269 a0002c0073t0007g0196 a0002c0075t0001g0344 a0003c0003t0001g0195 a0003c0003t0001g0240 a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0009 a0003c0003t0002g0047 a0003c0003t0002g0054 a0003c0003t0002g0064 a0003c0003t0002g0081 a0003c0003t0002g0084 a0003c0003t0002g0095 a0003c0003t0002g0096 a0003c0003t0002g0109 a0003c0003t0002g0112 a0003c0003t0002g0116 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0135 a0003c0003t0002g0142 a0003c0003t0002g0152 a0003c0003t0002g0154 a0003c0003t0002g0159 a0003c0003t0002g0160 a0003c0003t0002g0162 a0003c0003t0002g0186 a0003c0003t0002g0197 a0003c0003t0002g0220 a0003c0003t0002g0243 a0003c0003t0002g0260 a0003c0003t0002g0279 a0003c0003t0002g0299 a0003c0003t0002g0307 a0003c0003t0006g0060 a0003c0007t0001g0121 a0003c0007t0001g0190 a0003c0007t0001g0235 a0003c0007t0001g0262 a0003c0007t0001g0268 a0003c0007t0001g0271 a0003c0007t0001g0276 a0003c0007t0001g0278 a0003c0007t0001g0280 a0003c0007t0001g0286 a0003c0007t0001g0311 a0003c0007t0001g0318 a0003c0007t0001g0319 a0003c0007t0019g0321 a0003c0009t0001g0046 a0003c0009t0001g0062 a0003c0009t0001g0158 a0003c0009t0001g0245 a0003c0009t0001g0247 a0003c0009t0001g0248 a0003c0009t0001g0257 a0003c0009t0001g0326 a0003c0009t0005g0027 a0003c0020t0001g0008 a0003c0023t0001g0172 a0003c0023t0001g0202 a0003c0024t0001g0082 a0003c0024t0001g0191 a0003c0027t0001g0281 a0003c0027t0001g0323 a0003c0044t0002g0252 a0003c0045t0002g0156 a0003c0047t0001g0303 a0003c0058t0002g0063 a0006c0012t0001g0146 a0006c0012t0001g0226 a0006c0012t0010g0106 a0006c0012t0010g0250 a0006c0013t0001g0013 a0006c0013t0001g0205 a0006c0013t0001g0224 a0006c0017t0002g0094 a0006c0017t0002g0124 a0006c0017t0002g0126 a0006c0042t0011g0335 a0006c0056t0011g0332 a0006c0069t0001g0340 a0008c0010t0002g0199 a0008c0010t0002g0244 a0008c0010t0002g0288 a0008c0010t0002g0306 a0008c0010t0002g0308 a0008c0010t0002g0313 a0008c0010t0002g0314 a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 a0009c0025t0004g0334 a0009c0025t0004g0336 a0009c0065t0004g0236 a0010c0014t0001g0020 a0010c0014t0001g0251 a0010c0030t0001g0289 a0011c0018t0001g0072 a0011c0018t0001g0080 a0011c0018t0001g0090 a0015c0022t0012g0246 a0015c0022t0012g0266 a0016c0026t0001g0011 a0019c0067t0004g0333 a0020c0068t0004g0231 a0022c0054t0001g0225 a0024c0052t0001g0165 a0025c0070t0004g0183 a0026c0046t0002g0298 a0027c0048t0004g0310 a0028c0051t0001g0029 a0029c0050t0001g0287 a0030c0043t0002g0312 a0031c0049t0001g0067 a0033c0039t0001g0265 a0034c0038t0001g0169 a0036c0037t0002g0315	199	368	0.5408	c.210 others(4): Show c.2107G>T	p.Gly others(6): Show p.Gly703Cys	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2336/5461	2107/4125	703/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121871	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0033 a0033	a0033c0039 a0033c0039	a0033c0039t0001 a0033c0039t0001	a0033c0039t0001g0265 a0033c0039t0001g0265	1	368	0.0027	c.206 others(4): Show c.2065G>A	p.Gly others(6): Show p.Gly689Ser	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2294/5461	2065/4125	689/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121907	G G	A A	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp2 HG02258.hp1 others(4): Show HG01167.hp2 HG01169.hp2 HG02258.hp1 HG02723.hp1 HG02970.hp1 HG03453.hp2 HG03471.hp2	a0009 a0020 a0009 a0020	a0009c0019 a0009c0025 a0009c0065 others(1): Show a0009c0019 a0009c0025 a0009c0065 a0020c0068	a0009c0019t0004 a0009c0025t0004 a0009c0065t0004 others(1): Show a0009c0019t0004 a0009c0025t0004 a0009c0065t0004 a0020c0068t0004	a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 others(4): Show a0009c0019t0004g0237 a0009c0019t0004g0238 a0009c0019t0004g0239 a0009c0025t0004g0334 a0009c0025t0004g0336 a0009c0065t0004g0236 a0020c0068t0004g0231	7	368	0.0190	c.202 others(4): Show c.2029C>T	p.His others(6): Show p.His677Tyr	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2258/5461	2029/4125	677/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121912	C C	T T	missense_variant missense_variant	MODERATE	NA19068.hp1 NA19068.hp1	a0034 a0034	a0034c0038 a0034c0038	a0034c0038t0001 a0034c0038t0001	a0034c0038t0001g0169 a0034c0038t0001g0169	1	368	0.0027	c.202 others(4): Show c.2024G>A	p.Arg others(6): Show p.Arg675His	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2253/5461	2024/4125	675/1374	chr17	TogoVar
AATK_chr17_81112295_81171221	81121915	T T	C C	missense_variant missense_variant	MODERATE	NA19068.hp1 NA19068.hp1	a0034 a0034	a0034c0038 a0034c0038	a0034c0038t0001 a0034c0038t0001	a0034c0038t0001g0169 a0034c0038t0001g0169	1	368	0.0027	c.202 others(4): Show c.2021A>G	p.Gln others(6): Show p.Gln674Arg	AATK	ENSG00000181409.14	transcript	ENST00000326724.9	protein_coding	11/14	2250/5461	2021/4125	674/1374	chr17	TogoVar

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