Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	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
ALPK3_chr15_84812356_84878479	84858420	C C	T T	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0022 a0022	a0022c0034 a0022c0034	a0022c0034t0001 a0022c0034t0001	a0022c0034t0001g0189 a0022c0034t0001g0189	1	340	0.0029	c.368 others(4): Show c.3682C>T	p.Arg others(7): Show p.Arg1228Trp	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	6/14	3779/10238	3682/5118	1228/1705	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84858421	G G	A A	missense_variant missense_variant	MODERATE	NA19085.hp1 NA19085.hp1	a0023 a0023	a0023c0040 a0023c0040	a0023c0040t0004 a0023c0040t0004	a0023c0040t0004g0263 a0023c0040t0004g0263	1	340	0.0029	c.368 others(4): Show c.3683G>A	p.Arg others(7): Show p.Arg1228Gln	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	6/14	3780/10238	3683/5118	1228/1705	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84859257	C C	T T	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01257.hp1	a0017 a0017	a0017c0048 a0017c0048	a0017c0048t0003 a0017c0048t0003	a0017c0048t0003g0063 a0017c0048t0003g0063	1	340	0.0029	c.383 others(4): Show c.3832C>T	p.Arg others(7): Show p.Arg1278Trp	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	7/14	3929/10238	3832/5118	1278/1705	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84859793	C C	T T	missense_variant missense_variant	MODERATE	NA18992.hp2 NA18992.hp2	a0019 a0019	a0019c0046 a0019c0046	a0019c0046t0004 a0019c0046t0004	a0019c0046t0004g0253 a0019c0046t0004g0253	1	340	0.0029	c.398 others(4): Show c.3983C>T	p.Pro others(7): Show p.Pro1328Leu	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	8/14	4080/10238	3983/5118	1328/1705	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84859873	G G	A A	missense_variant missense_variant	MODERATE	HG02818.hp2 HG02895.hp1 HG02897.hp1 others(1): Show HG02818.hp2 HG02895.hp1 HG02897.hp1 NA20300.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0009 a0009c0013t0020 a0009c0013t0009 a0009c0013t0020	a0009c0013t0009g0023 a0009c0013t0009g0183 a0009c0013t0020g0187 a0009c0013t0009g0023 a0009c0013t0009g0183 a0009c0013t0020g0187	4	340	0.0118	c.406 others(4): Show c.4063G>A	p.Ala others(7): Show p.Ala1355Thr	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	8/14	4160/10238	4063/5118	1355/1705	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84859874	C C	A A	missense_variant missense_variant	MODERATE	HG01167.hp1 HG03492.hp1 HG01167.hp1 HG03492.hp1	a0015 a0015	a0015c0020 a0015c0020	a0015c0020t0030 a0015c0020t0031 a0015c0020t0030 a0015c0020t0031	a0015c0020t0030g0147 a0015c0020t0031g0146 a0015c0020t0030g0147 a0015c0020t0031g0146	2	340	0.0059	c.406 others(4): Show c.4064C>A	p.Ala others(7): Show p.Ala1355Asp	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	8/14	4161/10238	4064/5118	1355/1705	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84862764	T T	C C	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00423.hp1 HG00544.hp1 others(45): Show HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp2 HG02040.hp2 HG02083.hp2 HG02129.hp2 HG02486.hp1 HG02602.hp2 HG03491.hp2 HG03492.hp1 HG04204.hp1 NA18612.hp1 NA18949.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18985.hp1 NA18994.hp2 NA19009.hp2 NA19058.hp1 NA19070.hp2 NA19091.hp2 NA20905.hp2	a0003 a0004 a0008 others(5): Show a0003 a0004 a0008 a0012 a0015 a0016 a0017 a0025	a0003c0005 a0003c0050 a0004c0007 others(7): Show a0003c0005 a0003c0050 a0004c0007 a0008c0014 a0008c0042 a0012c0019 a0015c0020 a0016c0049 a0017c0048 a0025c0036	a0003c0005t0003 a0003c0050t0003 a0004c0007t0003 others(10): Show a0003c0005t0003 a0003c0050t0003 a0004c0007t0003 a0004c0007t0024 a0008c0014t0003 a0008c0014t0022 a0008c0042t0003 a0012c0019t0003 a0015c0020t0030 a0015c0020t0031 a0016c0049t0003 a0017c0048t0003 a0025c0036t0003	a0003c0005t0003g0004 a0003c0005t0003g0011 a0003c0005t0003g0013 others(37): Show a0003c0005t0003g0004 a0003c0005t0003g0011 a0003c0005t0003g0013 a0003c0005t0003g0040 a0003c0005t0003g0041 a0003c0005t0003g0042 a0003c0005t0003g0043 a0003c0005t0003g0044 a0003c0005t0003g0045 a0003c0005t0003g0046 a0003c0005t0003g0048 a0003c0005t0003g0049 a0003c0005t0003g0053 a0003c0005t0003g0054 a0003c0005t0003g0056 a0003c0005t0003g0058 a0003c0005t0003g0060 a0003c0005t0003g0064 a0003c0005t0003g0065 a0003c0005t0003g0066 a0003c0005t0003g0188 a0003c0050t0003g0047 a0004c0007t0003g0003 a0004c0007t0003g0004 a0004c0007t0003g0012 a0004c0007t0003g0059 a0004c0007t0003g0067 a0004c0007t0003g0211 a0004c0007t0024g0062 a0008c0014t0003g0020 a0008c0014t0003g0089 a0008c0014t0022g0141 a0008c0042t0003g0267 a0012c0019t0003g0038 a0012c0019t0003g0039 a0015c0020t0030g0147 a0015c0020t0031g0146 a0016c0049t0003g0003 a0017c0048t0003g0063 a0025c0036t0003g0159	48	340	0.1412	c.425 others(4): Show c.4259T>C	p.Leu others(7): Show p.Leu1420Pro	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	10/14	4356/10238	4259/5118	1420/1705	chr15	TogoVar
ALPK3_chr15_84812356_84878479	84868119	G G	A A	missense_variant missense_variant	MODERATE	NA18961.hp2 NA19091.hp1 NA18961.hp2 NA19091.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0001 a0014c0021t0001g0144 a0014c0021t0001g0001 a0014c0021t0001g0144	2	340	0.0059	c.478 others(4): Show c.4781G>A	p.Gly others(7): Show p.Gly1594Asp	ALPK3	ENSG00000136383.7	transcript	ENST00000258888.6	protein_coding	14/14	4878/10238	4781/5118	1594/1705	chr15	TogoVar
ALPL_chr1_21504423_21583410	21560653	G G	A A	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0017 a0007c0010t0003g0017	1	370	0.0027	c.89G others(2): Show c.89G>A	p.Arg others(5): Show p.Arg30Gln	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	3/12	288/2536	89/1575	30/524	chr1	TogoVar
ALPL_chr1_21504423_21583410	21563267	G G	A A	missense_variant missense_variant	MODERATE	HG02683.hp1 HG03831.hp1 HG02683.hp1 HG03831.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0041 a0005c0007t0002g0042 a0005c0007t0002g0041 a0005c0007t0002g0042	2	370	0.0054	c.455 others(3): Show c.455G>A	p.Arg others(6): Show p.Arg152His	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	5/12	654/2536	455/1575	152/524	chr1	TogoVar
ALPL_chr1_21504423_21583410	21564097	G G	A A	missense_variant missense_variant	MODERATE	NA18983.hp1 NA18983.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0199 a0010c0011t0001g0199	1	370	0.0027	c.529 others(3): Show c.529G>A	p.Ala others(6): Show p.Ala177Thr	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	6/12	728/2536	529/1575	177/524	chr1	TogoVar
ALPL_chr1_21504423_21583410	21568242	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00280.hp2 HG00423.hp1 others(127): Show HG00140.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01358.hp1 HG01433.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18946.hp1 NA18950.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA19002.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0007 others(2): Show a0002 a0004 a0007 a0008 a0010	a0002c0002 a0002c0013 a0002c0014 others(5): Show a0002c0002 a0002c0013 a0002c0014 a0002c0020 a0004c0006 a0007c0010 a0008c0015 a0010c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(13): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0010 a0002c0002t0012 a0002c0002t0016 a0002c0013t0001 a0002c0014t0001 a0002c0020t0002 a0004c0006t0004 a0007c0010t0003 a0008c0015t0001 a0010c0011t0001	a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 others(127): Show a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0021 a0002c0002t0001g0037 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0060 a0002c0002t0001g0064 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0087 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0173 a0002c0002t0001g0176 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0205 a0002c0002t0001g0207 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0281 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0297 a0002c0002t0001g0302 a0002c0002t0001g0303 a0002c0002t0001g0304 a0002c0002t0001g0317 a0002c0002t0001g0319 a0002c0002t0001g0321 a0002c0002t0001g0322 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0340 a0002c0002t0001g0341 a0002c0002t0001g0342 a0002c0002t0001g0343 a0002c0002t0001g0345 a0002c0002t0001g0346 a0002c0002t0001g0354 a0002c0002t0001g0357 a0002c0002t0002g0068 a0002c0002t0002g0079 a0002c0002t0002g0105 a0002c0002t0002g0120 a0002c0002t0002g0124 a0002c0002t0002g0145 a0002c0002t0002g0284 a0002c0002t0002g0364 a0002c0002t0003g0112 a0002c0002t0003g0172 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0003g0325 a0002c0002t0003g0355 a0002c0002t0004g0177 a0002c0002t0004g0301 a0002c0002t0004g0365 a0002c0002t0005g0126 a0002c0002t0005g0132 a0002c0002t0005g0136 a0002c0002t0005g0157 a0002c0002t0005g0267 a0002c0002t0005g0274 a0002c0002t0005g0275 a0002c0002t0005g0352 a0002c0002t0007g0153 a0002c0002t0007g0156 a0002c0002t0010g0279 a0002c0002t0010g0282 a0002c0002t0010g0283 a0002c0002t0012g0123 a0002c0002t0016g0276 a0002c0013t0001g0203 a0002c0014t0001g0212 a0002c0020t0002g0288 a0004c0006t0004g0144 a0004c0006t0004g0168 a0004c0006t0004g0169 a0007c0010t0003g0017 a0008c0015t0001g0356 a0010c0011t0001g0199	130	370	0.3514	c.787 others(3): Show c.787T>C	p.Tyr others(6): Show p.Tyr263His	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	7/12	986/2536	787/1575	263/524	chr1	TogoVar
ALPL_chr1_21504423_21583410	21573763	C C	T T	missense_variant missense_variant	MODERATE	NA18969.hp2 NA18969.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0356 a0008c0015t0001g0356	1	370	0.0027	c.961 others(3): Show c.961C>T	p.Arg others(6): Show p.Arg321Trp	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	9/12	1160/2536	961/1575	321/524	chr1	TogoVar
ALPL_chr1_21504423_21583410	21577422	G G	A A	missense_variant missense_variant	MODERATE	HG04199.hp2 HG04199.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0002 a0009c0016t0002	a0009c0016t0002g0171 a0009c0016t0002g0171	1	370	0.0027	c.134 others(4): Show c.1349G>A	p.Arg others(6): Show p.Arg450His	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	12/12	1548/2536	1349/1575	450/524	chr1	TogoVar
ALPL_chr1_21504423_21583410	21577454	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02486.hp1 HG02145.hp1 HG02486.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0004 a0006c0009t0004	a0006c0009t0004g0299 a0006c0009t0004g0300 a0006c0009t0004g0299 a0006c0009t0004g0300	2	370	0.0054	c.138 others(4): Show c.1381G>A	p.Val others(6): Show p.Val461Ile	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	12/12	1580/2536	1381/1575	461/524	chr1	TogoVar
ALPL_chr1_21504423_21583410	21577638	T T	C C	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp1 HG01243.hp2 others(13): Show HG01069.hp1 HG01071.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02109.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG03239.hp2 HG03471.hp2 HG03831.hp2 NA18906.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0006 a0003c0004 a0004c0006	a0003c0004t0005 a0004c0006t0004 a0003c0004t0005 a0004c0006t0004	a0003c0004t0005g0003 a0003c0004t0005g0019 a0003c0004t0005g0099 others(12): Show a0003c0004t0005g0003 a0003c0004t0005g0019 a0003c0004t0005g0099 a0003c0004t0005g0100 a0003c0004t0005g0180 a0003c0004t0005g0181 a0003c0004t0005g0182 a0003c0004t0005g0195 a0003c0004t0005g0196 a0003c0004t0005g0239 a0003c0004t0005g0241 a0003c0004t0005g0273 a0004c0006t0004g0144 a0004c0006t0004g0168 a0004c0006t0004g0169	16	370	0.0432	c.156 others(4): Show c.1565T>C	p.Val others(6): Show p.Val522Ala	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	12/12	1764/2536	1565/1575	522/524	chr1	TogoVar
ALPP_chr2_232373751_232387889	232378876	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(52): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00738.hp2 HG01358.hp2 HG01433.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02165.hp2 HG02559.hp1 HG02615.hp1 HG02683.hp1 HG02976.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp2 NA18940.hp2 NA18952.hp2 NA18954.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18998.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19081.hp1 NA19089.hp1	a0003 a0007 a0013 others(1): Show a0003 a0007 a0013 a0014	a0003c0003 a0003c0008 a0007c0020 others(2): Show a0003c0003 a0003c0008 a0007c0020 a0013c0036 a0014c0035	a0003c0003t0002 a0003c0008t0002 a0007c0020t0002 others(2): Show a0003c0003t0002 a0003c0008t0002 a0007c0020t0002 a0013c0036t0002 a0014c0035t0002	a0003c0003t0002g0003 a0003c0003t0002g0006 a0003c0003t0002g0023 others(5): Show a0003c0003t0002g0003 a0003c0003t0002g0006 a0003c0003t0002g0023 a0003c0003t0002g0024 a0003c0008t0002g0003 a0007c0020t0002g0003 a0013c0036t0002g0003 a0014c0035t0002g0006	55	410	0.1342	c.74C others(2): Show c.74C>T	p.Pro others(5): Show p.Pro25Leu	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	1/11	126/2754	74/1608	25/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232379003	G G	C C	missense_variant missense_variant	MODERATE	HG00558.hp1 HG01993.hp1 HG02258.hp1 others(8): Show HG00558.hp1 HG01993.hp1 HG02258.hp1 HG02280.hp2 HG02895.hp1 HG03486.hp2 HG03669.hp2 NA18963.hp2 NA18994.hp1 NA19064.hp1 NA19084.hp1	a0005 a0012 a0025 others(1): Show a0005 a0012 a0025 a0026	a0005c0007 a0012c0013 a0025c0021 others(1): Show a0005c0007 a0012c0013 a0025c0021 a0026c0022	a0005c0007t0004 a0012c0013t0007 a0025c0021t0001 others(1): Show a0005c0007t0004 a0012c0013t0007 a0025c0021t0001 a0026c0022t0001	a0005c0007t0004g0010 a0012c0013t0007g0022 a0025c0021t0001g0004 others(1): Show a0005c0007t0004g0010 a0012c0013t0007g0022 a0025c0021t0001g0004 a0026c0022t0001g0004	11	410	0.0268	c.109 others(3): Show c.109G>C	p.Glu others(5): Show p.Glu37Gln	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	2/11	161/2754	109/1608	37/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232379027	G G	A A	missense_variant missense_variant	MODERATE	NA18966.hp2 NA18966.hp2	a0014 a0014	a0014c0035 a0014c0035	a0014c0035t0002 a0014c0035t0002	a0014c0035t0002g0006 a0014c0035t0002g0006	1	410	0.0024	c.133 others(3): Show c.133G>A	p.Ala others(5): Show p.Ala45Thr	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	2/11	185/2754	133/1608	45/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232379271	A A	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00423.hp1 HG00544.hp1 others(155): Show HG00323.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp2 NA19240.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0006 a0022 others(2): Show a0001 a0006 a0022 a0023 a0024	a0001c0001 a0001c0019 a0006c0011 others(3): Show a0001c0001 a0001c0019 a0006c0011 a0022c0034 a0023c0033 a0024c0032	a0001c0001t0001 a0001c0001t0010 a0001c0019t0001 others(4): Show a0001c0001t0001 a0001c0001t0010 a0001c0019t0001 a0006c0011t0001 a0022c0034t0001 a0023c0033t0001 a0024c0032t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0015 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0010g0001 a0001c0019t0001g0019 a0006c0011t0001g0012 a0022c0034t0001g0001 a0023c0033t0001g0026 a0024c0032t0001g0001	158	410	0.3854	c.265 others(3): Show c.265A>T	p.Ile others(5): Show p.Ile89Leu	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	3/11	317/2754	265/1608	89/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232379513	A A	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18983.hp2 NA18983.hp2	a0015 a0015	a0015c0031 a0015c0031	a0015c0031t0001 a0015c0031t0001	a0015c0031t0001g0025 a0015c0031t0001g0025	1	410	0.0024	c.310 others(3): Show c.310A>C	p.Thr others(6): Show p.Thr104Pro	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	4/11	362/2754	310/1608	104/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232379544	G G	C C	missense_variant missense_variant	MODERATE	NA18991.hp2 NA18991.hp2	a0021 a0021	a0021c0023 a0021c0023	a0021c0023t0001 a0021c0023t0001	a0021c0023t0001g0004 a0021c0023t0001g0004	1	410	0.0024	c.341 others(3): Show c.341G>C	p.Ser others(6): Show p.Ser114Thr	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	4/11	393/2754	341/1608	114/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232379615	G G	A A	missense_variant missense_variant	MODERATE	NA18947.hp2 NA18947.hp2	a0024 a0024	a0024c0032 a0024c0032	a0024c0032t0001 a0024c0032t0001	a0024c0032t0001g0001 a0024c0032t0001g0001	1	410	0.0024	c.412 others(3): Show c.412G>A	p.Ala others(6): Show p.Ala138Thr	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	4/11	464/2754	412/1608	138/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232379619	G G	T T	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0001 a0016c0030t0001	a0016c0030t0001g0009 a0016c0030t0001g0009	1	410	0.0024	c.416 others(3): Show c.416G>T	p.Arg others(6): Show p.Arg139Leu	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	4/11	468/2754	416/1608	139/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232379623	T T	A A	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0001 a0016c0030t0001	a0016c0030t0001g0009 a0016c0030t0001g0009	1	410	0.0024	c.420 others(3): Show c.420T>A	p.Phe others(6): Show p.Phe140Leu	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	4/11	472/2754	420/1608	140/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232379820	A A	G G	missense_variant missense_variant	MODERATE	NA18984.hp1 NA18995.hp2 NA19010.hp1 NA18984.hp1 NA18995.hp2 NA19010.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0012 a0006c0011t0001g0012	3	410	0.0073	c.541 others(3): Show c.541A>G	p.Thr others(6): Show p.Thr181Ala	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	5/11	593/2754	541/1608	181/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232380205	G G	A A	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0001 a0017c0024t0001	a0017c0024t0001g0001 a0017c0024t0001g0001	1	410	0.0024	c.677 others(3): Show c.677G>A	p.Arg others(6): Show p.Arg226Gln	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	6/11	729/2754	677/1608	226/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232380220	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00408.hp2 HG00642.hp1 others(37): Show HG00099.hp2 HG00408.hp2 HG00642.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01981.hp1 HG02129.hp2 HG02622.hp2 HG02698.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18993.hp1 NA19030.hp1 NA19080.hp1 NA19088.hp1 NA20129.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0004 a0008 a0009 a0004 a0008 a0009	a0004c0004 a0004c0025 a0008c0015 others(1): Show a0004c0004 a0004c0025 a0008c0015 a0009c0014	a0004c0004t0001 a0004c0004t0006 a0004c0004t0008 others(5): Show a0004c0004t0001 a0004c0004t0006 a0004c0004t0008 a0004c0004t0011 a0004c0004t0012 a0004c0025t0001 a0008c0015t0001 a0009c0014t0001	a0004c0004t0001g0002 a0004c0004t0001g0007 a0004c0004t0001g0032 others(7): Show a0004c0004t0001g0002 a0004c0004t0001g0007 a0004c0004t0001g0032 a0004c0004t0006g0002 a0004c0004t0008g0002 a0004c0004t0011g0002 a0004c0004t0012g0002 a0004c0025t0001g0002 a0008c0015t0001g0002 a0009c0014t0001g0002	40	410	0.0976	c.692 others(3): Show c.692G>C	p.Arg others(6): Show p.Arg231Pro	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	6/11	744/2754	692/1608	231/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232380224	G G	A A	missense_variant missense_variant	MODERATE	HG02145.hp1 NA20129.hp1 HG02145.hp1 NA20129.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0004 a0010c0016t0001g0004	2	410	0.0049	c.696 others(3): Show c.696G>A	p.Met others(6): Show p.Met232Ile	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	6/11	748/2754	696/1608	232/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232380258	A A	G G	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02895.hp1 HG02258.hp1 HG02895.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0007 a0012c0013t0007	a0012c0013t0007g0022 a0012c0013t0007g0022	2	410	0.0049	c.730 others(3): Show c.730A>G	p.Ser others(6): Show p.Ser244Gly	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	6/11	782/2754	730/1608	244/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232380316	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(51): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00738.hp2 HG01358.hp2 HG01433.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02165.hp2 HG02559.hp1 HG02615.hp1 HG02683.hp1 HG02976.hp1 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG03710.hp2 NA18940.hp2 NA18952.hp2 NA18954.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp2 NA18986.hp2 NA18988.hp2 NA18991.hp1 NA18998.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19081.hp1 NA19089.hp1	a0003 a0007 a0014 a0003 a0007 a0014	a0003c0003 a0003c0008 a0007c0020 others(1): Show a0003c0003 a0003c0008 a0007c0020 a0014c0035	a0003c0003t0002 a0003c0008t0002 a0007c0020t0002 others(1): Show a0003c0003t0002 a0003c0008t0002 a0007c0020t0002 a0014c0035t0002	a0003c0003t0002g0003 a0003c0003t0002g0006 a0003c0003t0002g0023 others(4): Show a0003c0003t0002g0003 a0003c0003t0002g0006 a0003c0003t0002g0023 a0003c0003t0002g0024 a0003c0008t0002g0003 a0007c0020t0002g0003 a0014c0035t0002g0006	54	410	0.1317	c.788 others(3): Show c.788G>A	p.Arg others(6): Show p.Arg263His	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	6/11	840/2754	788/1608	263/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232380432	G G	C C	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0023 a0023	a0023c0033 a0023c0033	a0023c0033t0001 a0023c0033t0001	a0023c0033t0001g0026 a0023c0033t0001g0026	1	410	0.0024	c.805 others(3): Show c.805G>C	p.Val others(6): Show p.Val269Leu	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	7/11	857/2754	805/1608	269/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232380453	A A	C C	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02895.hp1 HG02258.hp1 HG02895.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0007 a0012c0013t0007	a0012c0013t0007g0022 a0012c0013t0007g0022	2	410	0.0049	c.826 others(3): Show c.826A>C	p.Met others(6): Show p.Met276Leu	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	7/11	878/2754	826/1608	276/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232380733	C C	T T	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0002 a0008c0015t0001g0002	2	410	0.0049	c.976 others(3): Show c.976C>T	p.Arg others(6): Show p.Arg326Cys	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	8/11	1028/2754	976/1608	326/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232380881	C C	G G	missense_variant missense_variant	MODERATE	HG00558.hp1 HG02280.hp2 HG03486.hp2 others(4): Show HG00558.hp1 HG02280.hp2 HG03486.hp2 NA18963.hp2 NA18994.hp1 NA19064.hp1 NA19084.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0004 a0005c0007t0004	a0005c0007t0004g0010 a0005c0007t0004g0010	7	410	0.0171	c.104 others(4): Show c.1042C>G	p.Arg others(6): Show p.Arg348Gly	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	9/11	1094/2754	1042/1608	348/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232380881	C C	T T	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01169.hp2 HG01993.hp1 HG01168.hp2 HG01169.hp2 HG01993.hp1	a0011 a0026 a0011 a0026	a0011c0017 a0026c0022 a0011c0017 a0026c0022	a0011c0017t0001 a0026c0022t0001 a0011c0017t0001 a0026c0022t0001	a0011c0017t0001g0004 a0026c0022t0001g0004 a0011c0017t0001g0004 a0026c0022t0001g0004	3	410	0.0073	c.104 others(4): Show c.1042C>T	p.Arg others(6): Show p.Arg348Trp	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	9/11	1094/2754	1042/1608	348/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232380903	T T	A A	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0001 a0016c0030t0001	a0016c0030t0001g0009 a0016c0030t0001g0009	1	410	0.0024	c.106 others(4): Show c.1064T>A	p.Met others(6): Show p.Met355Lys	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	9/11	1116/2754	1064/1608	355/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232381263	G G	A A	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0018 a0018	a0018c0026 a0018c0026	a0018c0026t0003 a0018c0026t0003	a0018c0026t0003g0002 a0018c0026t0003g0002	1	410	0.0024	c.120 others(4): Show c.1205G>A	p.Gly others(6): Show p.Gly402Asp	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	10/11	1257/2754	1205/1608	402/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232381271	C C	G G	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0001 a0016c0030t0001	a0016c0030t0001g0009 a0016c0030t0001g0009	1	410	0.0024	c.121 others(4): Show c.1213C>G	p.Arg others(6): Show p.Arg405Gly	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	10/11	1265/2754	1213/1608	405/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232381272	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00140.hp2	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0001 a0019c0028t0001	a0019c0028t0001g0018 a0019c0028t0001g0018	1	410	0.0024	c.121 others(4): Show c.1214G>A	p.Arg others(6): Show p.Arg405Gln	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	10/11	1266/2754	1214/1608	405/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232381511	C C	T T	missense_variant missense_variant	MODERATE	HG01257.hp2 HG01361.hp2 HG01257.hp2 HG01361.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0002 a0009c0014t0001g0002	2	410	0.0049	c.132 others(4): Show c.1324C>T	p.Arg others(6): Show p.Arg442Trp	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	11/11	1376/2754	1324/1608	442/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232381539	A A	G G	missense_variant missense_variant	MODERATE	HG01993.hp2 HG01993.hp2	a0022 a0022	a0022c0034 a0022c0034	a0022c0034t0001 a0022c0034t0001	a0022c0034t0001g0001 a0022c0034t0001g0001	1	410	0.0024	c.135 others(4): Show c.1352A>G	p.Glu others(6): Show p.Glu451Gly	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	11/11	1404/2754	1352/1608	451/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232381689	C C	G G	missense_variant missense_variant	MODERATE	HG03516.hp1 HG03516.hp1	a0020 a0020	a0020c0027 a0020c0027	a0020c0027t0001 a0020c0027t0001	a0020c0027t0001g0001 a0020c0027t0001g0001	1	410	0.0024	c.150 others(4): Show c.1502C>G	p.Pro others(6): Show p.Pro501Arg	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	11/11	1554/2754	1502/1608	501/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232381733	C C	A A	missense_variant missense_variant	MODERATE	NA18972.hp2 NA19060.hp1 NA18972.hp2 NA19060.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0002 a0007c0020t0002	a0007c0020t0002g0003 a0007c0020t0002g0003	2	410	0.0049	c.154 others(4): Show c.1546C>A	p.Pro others(6): Show p.Pro516Thr	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	11/11	1598/2754	1546/1608	516/535	chr2	TogoVar
ALPP_chr2_232373751_232387889	232381779	C C	A A	missense_variant missense_variant	MODERATE	NA18983.hp2 NA18983.hp2	a0015 a0015	a0015c0031 a0015c0031	a0015c0031t0001 a0015c0031t0001	a0015c0031t0001g0025 a0015c0031t0001g0025	1	410	0.0024	c.159 others(4): Show c.1592C>A	p.Thr others(6): Show p.Thr531Lys	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	11/11	1644/2754	1592/1608	531/535	chr2	TogoVar
ALS2CL_chr3_46663995_46698679	46671000	G G	A A	missense_variant missense_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0006 a0013c0023t0006	a0013c0023t0006g0102 a0013c0023t0006g0102	1	390	0.0026	c.284 others(4): Show c.2846C>T	p.Ser others(6): Show p.Ser949Phe	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	26/26	2908/4913	2846/2862	949/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46671045	T T	C C	missense_variant missense_variant	MODERATE	HG02132.hp1 HG02132.hp1	a0007 a0007	a0007c0033 a0007c0033	a0007c0033t0001 a0007c0033t0001	a0007c0033t0001g0156 a0007c0033t0001g0156	1	390	0.0026	c.280 others(4): Show c.2801A>G	p.Gln others(6): Show p.Gln934Arg	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	26/26	2863/4913	2801/2862	934/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46671977	A A	G G	missense_variant missense_variant	MODERATE	NA18998.hp1 NA18998.hp1	a0008 a0008	a0008c0032 a0008c0032	a0008c0032t0003 a0008c0032t0003	a0008c0032t0003g0148 a0008c0032t0003g0148	1	390	0.0026	c.259 others(4): Show c.2591T>C	p.Ile others(6): Show p.Ile864Thr	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	24/26	2653/4913	2591/2862	864/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46675685	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01261.hp1 HG02257.hp1 HG01261.hp1 HG02257.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0037 a0005c0013t0002g0037	2	390	0.0051	c.218 others(4): Show c.2188G>A	p.Gly others(6): Show p.Gly730Ser	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	20/26	2250/4913	2188/2862	730/953	chr3	TogoVar
ALS2CL_chr3_46663995_46698679	46676961	G G	A A	missense_variant missense_variant	MODERATE	HG03486.hp1 HG03486.hp1	a0017 a0017	a0017c0038 a0017c0038	a0017c0038t0021 a0017c0038t0021	a0017c0038t0021g0196 a0017c0038t0021g0196	1	390	0.0026	c.181 others(4): Show c.1819C>T	p.Arg others(6): Show p.Arg607Trp	ALS2CL	ENSG00000178038.17	transcript	ENST00000318962.9	protein_coding	17/26	1881/4913	1819/2862	607/953	chr3	TogoVar

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