Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
EPHB4_chr7_100797565_100832523	100818517	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(117): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG01099.hp1 HG01192.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02683.hp2 HG02738.hp2 HG02809.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp2 HG03654.hp2 HG03710.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19059.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0007 a0009	a0001c0001 a0001c0005 a0001c0011 others(9): Show a0001c0001 a0001c0005 a0001c0011 a0001c0014 a0001c0018 a0001c0025 a0001c0027 a0002c0012 a0004c0016 a0005c0017 a0007c0021 a0009c0024	a0001c0001t0002 a0001c0001t0005 a0001c0005t0006 others(14): Show a0001c0001t0002 a0001c0001t0005 a0001c0005t0006 a0001c0005t0007 a0001c0005t0008 a0001c0011t0002 a0001c0011t0005 a0001c0011t0010 a0001c0014t0002 a0001c0018t0001 a0001c0025t0002 a0001c0027t0002 a0002c0012t0002 a0004c0016t0002 a0005c0017t0001 a0007c0021t0002 a0009c0024t0002	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0006 others(91): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0280 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0005t0006g0016 a0001c0005t0006g0273 a0001c0005t0006g0274 a0001c0005t0006g0275 a0001c0005t0007g0241 a0001c0005t0007g0242 a0001c0005t0007g0271 a0001c0005t0008g0243 a0001c0005t0008g0264 a0001c0011t0002g0045 a0001c0011t0002g0081 a0001c0011t0005g0279 a0001c0011t0010g0078 a0001c0014t0002g0054 a0001c0014t0002g0055 a0001c0014t0002g0056 a0001c0018t0001g0229 a0001c0025t0002g0092 a0001c0027t0002g0117 a0002c0012t0002g0017 a0002c0012t0002g0047 a0002c0012t0002g0104 a0004c0016t0002g0040 a0004c0016t0002g0057 a0005c0017t0001g0120 a0007c0021t0002g0082 a0009c0024t0002g0089	120	364	0.3297	0	c.142 others(6): Show c.1422+3A>G		EPHB4	ENSG00000196411.10	transcript	ENST00000358173.8	protein_coding	7/16					chr7	TogoVar
EPHB6_chr7_142850076_142876093	142868365	AGCAGGGC others(8): Show AGCAGGGCCAAAGCAG	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp1 HG06807.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0004 a0012c0016t0004	a0012c0016t0004g0098 a0012c0016t0004g0098	1	311	0.0032	-15	c.203 others(29): Show c.2038+7_2038+21delCAGGGCCAAAGCAGG		EPHB6	ENSG00000106123.12	transcript	ENST00000652003.1	protein_coding	14/19				INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHX1_chr1_225805124_225850563	225838651	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0228 a0001c0012t0001g0228	1	422	0.0024	0	c.365 others(5): Show c.365-3C>A		EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding	3/8					chr1	TogoVar
EPHX2_chr8_27486143_27550564	27516406	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(131): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01106.hp1 HG01167.hp1 HG01192.hp2 HG01243.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18970.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18986.hp2 NA18992.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19012.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp2 NA19074.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19085.hp2 NA19086.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0008 a0011 a0015 a0016 a0018 a0019	a0001c0001 a0001c0002 a0001c0004 others(16): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0013 a0001c0014 a0001c0025 a0001c0032 a0003c0006 a0003c0007 a0004c0010 a0004c0015 a0008c0019 a0008c0034 a0011c0033 a0015c0024 a0016c0026 a0018c0022 a0019c0037	a0001c0001t0001 a0001c0002t0002 a0001c0004t0003 others(22): Show a0001c0001t0001 a0001c0002t0002 a0001c0004t0003 a0001c0004t0004 a0001c0005t0005 a0001c0013t0002 a0001c0013t0006 a0001c0014t0003 a0001c0025t0001 a0001c0032t0003 a0003c0006t0002 a0003c0007t0004 a0003c0007t0008 a0003c0007t0012 a0004c0010t0001 a0004c0010t0007 a0004c0015t0002 a0004c0015t0004 a0008c0019t0001 a0008c0034t0003 a0011c0033t0004 a0015c0024t0002 a0016c0026t0002 a0018c0022t0002 a0019c0037t0004	a0001c0001t0001g0012 a0001c0002t0002g0010 a0001c0002t0002g0017 others(128): Show a0001c0001t0001g0012 a0001c0002t0002g0010 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0224 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0004t0003g0011 a0001c0004t0003g0322 a0001c0004t0003g0323 a0001c0004t0003g0324 a0001c0004t0003g0325 a0001c0004t0003g0326 a0001c0004t0003g0331 a0001c0004t0003g0333 a0001c0004t0003g0335 a0001c0004t0003g0340 a0001c0004t0003g0342 a0001c0004t0004g0327 a0001c0004t0004g0328 a0001c0004t0004g0329 a0001c0004t0004g0336 a0001c0004t0004g0337 a0001c0004t0004g0338 a0001c0004t0004g0339 a0001c0004t0004g0341 a0001c0004t0004g0344 a0001c0005t0005g0230 a0001c0013t0002g0019 a0001c0013t0002g0273 a0001c0013t0006g0020 a0001c0014t0003g0345 a0001c0014t0003g0346 a0001c0014t0003g0347 a0001c0025t0001g0285 a0001c0032t0003g0343 a0003c0006t0002g0310 a0003c0006t0002g0311 a0003c0006t0002g0350 a0003c0006t0002g0351 a0003c0006t0002g0352 a0003c0006t0002g0353 a0003c0006t0002g0354 a0003c0006t0002g0356 a0003c0006t0002g0357 a0003c0006t0002g0358 a0003c0006t0002g0359 a0003c0006t0002g0360 a0003c0006t0002g0361 a0003c0007t0004g0312 a0003c0007t0004g0313 a0003c0007t0004g0314 a0003c0007t0004g0315 a0003c0007t0004g0316 a0003c0007t0004g0317 a0003c0007t0004g0319 a0003c0007t0004g0320 a0003c0007t0004g0321 a0003c0007t0008g0306 a0003c0007t0008g0307 a0003c0007t0012g0318 a0004c0010t0001g0292 a0004c0010t0001g0295 a0004c0010t0001g0296 a0004c0010t0001g0297 a0004c0010t0001g0298 a0004c0010t0007g0293 a0004c0010t0007g0294 a0004c0015t0002g0291 a0004c0015t0004g0288 a0004c0015t0004g0289 a0008c0019t0001g0330 a0008c0019t0001g0332 a0008c0034t0003g0334 a0011c0033t0004g0015 a0015c0024t0002g0267 a0016c0026t0002g0290 a0018c0022t0002g0283 a0019c0037t0004g0016	134	374	0.3583	0	c.910 others(5): Show c.910+8T>C		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	8/18					chr8	TogoVar
EPHX2_chr8_27486143_27550564	27520878	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02559.hp2 HG02818.hp1 others(2): Show HG02257.hp2 HG02559.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0012 a0003c0007t0004 a0003c0007t0012	a0003c0007t0004g0316 a0003c0007t0004g0317 a0003c0007t0004g0319 others(2): Show a0003c0007t0004g0316 a0003c0007t0004g0317 a0003c0007t0004g0319 a0003c0007t0004g0320 a0003c0007t0012g0318	5	374	0.0134	0	c.946 others(5): Show c.946-5C>T		EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	9/18					chr8	TogoVar
EPHX2_chr8_27486143_27550564	27538691	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00408.hp1 HG00423.hp2 HG00438.hp1 others(70): Show HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp2 HG00621.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02129.hp2 HG02165.hp1 HG02280.hp1 HG02602.hp2 HG02698.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp2 HG03490.hp2 HG03579.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp1 NA18964.hp1 NA18968.hp2 NA18970.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18991.hp2 NA18992.hp2 NA19002.hp1 NA19003.hp2 NA19012.hp1 NA19054.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19085.hp2 NA19086.hp2 NA20300.hp2	a0001 a0002 a0015 others(3): Show a0001 a0002 a0015 a0016 a0018 a0020	a0001c0002 a0001c0025 a0002c0008 others(4): Show a0001c0002 a0001c0025 a0002c0008 a0015c0024 a0016c0026 a0018c0022 a0020c0036	a0001c0002t0002 a0001c0025t0001 a0002c0008t0002 others(4): Show a0001c0002t0002 a0001c0025t0001 a0002c0008t0002 a0015c0024t0002 a0016c0026t0002 a0018c0022t0002 a0020c0036t0002	a0001c0002t0002g0010 a0001c0002t0002g0017 a0001c0002t0002g0018 others(69): Show a0001c0002t0002g0010 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0224 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0264 a0001c0002t0002g0265 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0284 a0001c0002t0002g0286 a0001c0002t0002g0287 a0001c0025t0001g0285 a0002c0008t0002g0034 a0002c0008t0002g0039 a0002c0008t0002g0041 a0002c0008t0002g0042 a0002c0008t0002g0044 a0002c0008t0002g0048 a0002c0008t0002g0053 a0002c0008t0002g0067 a0002c0008t0002g0068 a0015c0024t0002g0267 a0016c0026t0002g0290 a0018c0022t0002g0283 a0020c0036t0002g0060	73	374	0.1952	0	c.127 others(4): Show c.1275G>A	p.Ala others(6): Show p.Ala425Ala	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	14/19	1341/2776	1275/1668	425/555		chr8	TogoVar
EPN3_chr17_50527735_50548750	50538880	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp1 HG03453.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0081 a0013c0013t0001g0081	1	350	0.0029	0	c.682 others(5): Show c.682-4G>A		EPN3	ENSG00000049283.19	transcript	ENST00000268933.8	protein_coding	3/9					chr17	TogoVar
EPN3_chr17_50527735_50548750	50541465	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0002 a0002c0016t0001g0002	1	350	0.0029	0	c.135 others(4): Show c.1356G>A	p.Glu others(6): Show p.Glu452Glu	EPN3	ENSG00000049283.19	transcript	ENST00000268933.8	protein_coding	9/10	1743/3879	1356/1899	452/632		chr17	TogoVar
EPOR_chr19_11372207_11389314	11377208	T T	C C	splice_region_variant splice_region_variant	LOW	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0047 a0001c0001t0007g0047	1	404	0.0025	0	c.77 others(4): Show c.776A>G		EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding	8/8					chr19	TogoVar
EPOR_chr19_11372207_11389314	11383090	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 NA18979.hp2 HG00558.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	2	404	0.0050	0	c.251 others(5): Show c.251+7C>A		EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding	2/7					chr19	TogoVar
EPPIN_chr20_45535626_45552401	45540627	T T	C C	splice_region_variant splice_region_variant	LOW	HG00544.hp1 HG01106.hp2 HG01109.hp2 others(29): Show HG00544.hp1 HG01106.hp2 HG01109.hp2 HG02027.hp2 HG02080.hp1 HG02083.hp1 HG02155.hp1 HG02155.hp2 HG03017.hp1 HG03669.hp2 HG04199.hp1 NA18942.hp1 NA18949.hp1 NA18951.hp1 NA18967.hp1 NA18968.hp1 NA18983.hp2 NA18987.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp1 NA19000.hp2 NA19010.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0005 a0001c0001t0003g0030 a0001c0001t0003g0039 others(2): Show a0001c0001t0003g0005 a0001c0001t0003g0030 a0001c0001t0003g0039 a0001c0001t0003g0051 a0001c0001t0012g0026	32	438	0.0731	0	c.15 others(5): Show c.1517A>G		EPPIN	ENSG00000101448.14	transcript	ENST00000354280.9	protein_coding	4/4					chr20	TogoVar
EPPIN_chr20_45535626_45552401	45542158	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 HG00642.hp2 HG01070.hp2 others(40): Show HG00597.hp1 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01243.hp2 HG01361.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02055.hp1 HG02109.hp1 HG02165.hp1 HG02293.hp1 HG02622.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp2 HG03041.hp2 HG03209.hp2 HG03471.hp1 HG03540.hp2 HG06807.hp2 NA18906.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18960.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18980.hp2 NA18987.hp2 NA18989.hp1 NA18994.hp2 NA19009.hp2 NA19072.hp2 NA19077.hp1 NA19088.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 others(1): Show a0002c0002t0004 a0002c0002t0006 a0002c0002t0009 a0002c0002t0010	a0002c0002t0004g0006 a0002c0002t0004g0022 a0002c0002t0004g0029 others(6): Show a0002c0002t0004g0006 a0002c0002t0004g0022 a0002c0002t0004g0029 a0002c0002t0004g0031 a0002c0002t0004g0032 a0002c0002t0006g0008 a0002c0002t0006g0016 a0002c0002t0009g0011 a0002c0002t0010g0013	43	438	0.0982	0	c.392 others(5): Show c.392-4G>A		EPPIN	ENSG00000101448.14	transcript	ENST00000354280.9	protein_coding	3/3					chr20	TogoVar
EPRS1_chr1_219963600_220051505	219988587	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp2 HG02976.hp2 HG03195.hp2 others(1): Show HG02723.hp2 HG02976.hp2 HG03195.hp2 NA20300.hp2	a0006 a0019 a0006 a0019	a0006c0009 a0019c0014 a0006c0009 a0019c0014	a0006c0009t0001 a0019c0014t0001 a0006c0009t0001 a0019c0014t0001	a0006c0009t0001g0014 a0006c0009t0001g0017 a0006c0009t0001g0018 others(1): Show a0006c0009t0001g0014 a0006c0009t0001g0017 a0006c0009t0001g0018 a0019c0014t0001g0311	4	358	0.0112	0	c.277 others(6): Show c.2775+3T>C		EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	19/31					chr1	TogoVar
EPRS1_chr1_219963600_220051505	219988592	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp2 HG02818.hp1 HG01884.hp2 HG02818.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0335 a0007c0012t0001g0336 a0007c0012t0001g0335 a0007c0012t0001g0336	2	358	0.0056	0	c.277 others(4): Show c.2773A>C	p.Lys others(6): Show p.Lys925Gln	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	19/32	2890/4862	2773/4539	925/1512		chr1	TogoVar
EPRS1_chr1_219963600_220051505	220022340	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02055.hp1 HG02451.hp1 others(9): Show HG01884.hp2 HG02055.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02818.hp1 HG02896.hp2 HG03041.hp1 HG03540.hp1 HG03579.hp1	a0004 a0007 a0004 a0007	a0004c0006 a0007c0012 a0004c0006 a0007c0012	a0004c0006t0001 a0007c0012t0001 a0004c0006t0001 a0007c0012t0001	a0004c0006t0001g0337 a0004c0006t0001g0338 a0004c0006t0001g0339 others(9): Show a0004c0006t0001g0337 a0004c0006t0001g0338 a0004c0006t0001g0339 a0004c0006t0001g0340 a0004c0006t0001g0341 a0004c0006t0001g0342 a0004c0006t0001g0343 a0004c0006t0001g0344 a0004c0006t0001g0345 a0004c0006t0001g0346 a0007c0012t0001g0335 a0007c0012t0001g0336	12	358	0.0335	0	c.111 others(6): Show c.1115+7A>G		EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	9/31					chr1	TogoVar
EPS15L1_chr19_16350247_16476970	16425320	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	276	0.0036	0	c.559 others(5): Show c.559-4G>A		EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	8/23					chr19	TogoVar
EPS15L1_chr19_16350247_16476970	16441979	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02886.hp2 NA20129.hp1 HG02886.hp2 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0045 a0001c0004t0001g0046 a0001c0004t0001g0045 a0001c0004t0001g0046	2	276	0.0073	0	c.78C others(2): Show c.78C>T	p.Val others(5): Show p.Val26Val	EPS15L1	ENSG00000127527.14	transcript	ENST00000455140.7	protein_coding	3/24	103/3216	78/2733	26/910		chr19	TogoVar
EPS15_chr1_51349263_51524266	51405896	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp1 HG02145.hp1 HG02451.hp1 others(5): Show HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02559.hp1 HG02723.hp1 HG03098.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0052 a0001c0002t0003g0058 a0001c0002t0003g0059 others(5): Show a0001c0002t0001g0052 a0001c0002t0003g0058 a0001c0002t0003g0059 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0074 a0001c0002t0003g0075 a0001c0002t0003g0106	8	152	0.0526	1	c.167 others(7): Show c.1677+8dupT		EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	16/24					chr1	TogoVar
EPS8L1_chr19_55070869_55092923	55078135	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02258.hp2	a0013 a0013	a0013c0009 a0013c0009	a0013c0009t0001 a0013c0009t0001	a0013c0009t0001g0158 a0013c0009t0001g0158	1	340	0.0029	0	c.58+ others(4): Show c.58+7G>A		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	3/19					chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55079857	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02258.hp2	a0013 a0013	a0013c0009 a0013c0009	a0013c0009t0001 a0013c0009t0001	a0013c0009t0001g0158 a0013c0009t0001g0158	1	340	0.0029	0	c.279 others(5): Show c.279+6G>A		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	5/19					chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55082186	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	340	0.0029	0	c.990 others(5): Show c.990+6G>A		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	10/19					chr19	TogoVar
EPS8L1_chr19_55070869_55092923	55085833	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	340	0.0029	0	c.138 others(6): Show c.1386-8C>T		EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	14/19					chr19	TogoVar
EPS8L2_chr11_701231_732727	721696	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	406	0.0025	0	c.895 others(5): Show c.895+5A>G		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	10/20					chr11	TogoVar
EPS8L2_chr11_701231_732727	722395	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0365 a0002c0009t0001g0365	1	406	0.0025	0	c.106 others(6): Show c.1060-6C>T		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	12/20					chr11	TogoVar
EPS8L2_chr11_701231_732727	726615	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18970.hp1 NA18990.hp2 NA19089.hp2 NA18970.hp1 NA18990.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0184 a0001c0001t0001g0273 a0001c0001t0002g0128 a0001c0001t0001g0184 a0001c0001t0001g0273 a0001c0001t0002g0128	3	406	0.0074	0	c.193 others(6): Show c.1935-4C>A		EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	19/20					chr11	TogoVar
EPS8L3_chr1_109745080_109768923	109757802	C C	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19080.hp1 NA19080.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0003 a0002c0024t0003	a0002c0024t0003g0085 a0002c0024t0003g0085	1	426	0.0024	0	c.894 others(3): Show c.894G>T	p.Leu others(6): Show p.Leu298Leu	EPS8L3	ENSG00000198758.11	transcript	ENST00000361965.9	protein_coding	10/19	1020/2219	894/1782	298/593		chr1	TogoVar
EPS8L3_chr1_109745080_109768923	109758308	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	426	0.0024	0	c.717 others(5): Show c.717+8C>A		EPS8L3	ENSG00000198758.11	transcript	ENST00000361965.9	protein_coding	8/18					chr1	TogoVar
EPS8_chr12_15615134_15794388	15623289	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp1 HG01109.hp1 HG01884.hp2 others(13): Show HG00733.hp1 HG01109.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02451.hp1 HG02451.hp2 HG02630.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03486.hp1 NA19030.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0005t0005	a0001c0002t0001g0006 a0001c0002t0001g0032 a0001c0002t0001g0035 others(13): Show a0001c0002t0001g0006 a0001c0002t0001g0032 a0001c0002t0001g0035 a0001c0002t0001g0053 a0001c0002t0001g0069 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0003g0001 a0001c0002t0003g0002 a0001c0002t0003g0003 a0001c0002t0005g0014 a0001c0002t0008g0023 a0001c0002t0008g0051 a0001c0005t0005g0033 a0001c0005t0005g0043	16	102	0.1569	1	c.222 others(7): Show c.2226-3dupT		EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	19/20					chr12	TogoVar
EPS8_chr12_15615134_15794388	15669381	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG02145.hp2 HG02559.hp2 others(7): Show HG00733.hp2 HG02145.hp2 HG02559.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03486.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0006 a0001c0001t0001 a0001c0002t0001 a0001c0003t0006	a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 others(7): Show a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0055 a0001c0002t0001g0061 a0001c0003t0006g0066	10	102	0.0980	0	c.516 others(5): Show c.516+6A>G		EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	6/20					chr12	TogoVar
EPS8_chr12_15615134_15794388	15669833	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	102	0.0098	0	c.205 others(5): Show c.205-8A>G		EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	4/20					chr12	TogoVar
EPS8_chr12_15615134_15794388	15681305	G G	GTAA GTAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG02145.hp2 HG02523.hp2 others(9): Show HG00733.hp2 HG02145.hp2 HG02523.hp2 HG02559.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03486.hp1 HG03486.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0006 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0006 a0002c0004t0001	a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 others(9): Show a0001c0001t0001g0024 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0092 a0001c0002t0001g0032 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0055 a0001c0002t0001g0061 a0001c0003t0006g0066 a0002c0004t0001g0062	12	102	0.1177	3	c.60- others(12): Show c.60-6_60-4dupTTA		EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	2/20					chr12	TogoVar
EPS8_chr12_15615134_15794388	15681305	G G	GTAATAA GTAATAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp2 HG01256.hp2 HG01891.hp1 others(4): Show HG00597.hp2 HG01256.hp2 HG01891.hp1 HG02886.hp1 HG03098.hp1 HG03139.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0005 a0001c0001t0001 a0001c0001t0002 a0001c0002t0005	a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0052 others(4): Show a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0052 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0002t0005g0014	7	102	0.0686	6	c.60- others(15): Show c.60-9_60-4dupTTATTA		EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	2/20					chr12	TogoVar
EPS8_chr12_15615134_15794388	15681305	GTAATAA GTAATAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG02055.hp2 HG02922.hp1 others(3): Show HG01109.hp2 HG02055.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0002t0001g0006 a0001c0002t0001g0008 others(3): Show a0001c0001t0001g0011 a0001c0002t0001g0006 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0073 a0001c0002t0001g0074	6	102	0.0588	-6	c.60- others(15): Show c.60-9_60-4delTTATTA		EPS8	ENSG00000151491.14	transcript	ENST00000281172.10	protein_coding	2/20					chr12	TogoVar
EPSTI1_chr13_42881388_42997241	42886388	T T	A A	splice_region_variant splice_region_variant	LOW	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0328 a0001c0001t0056g0328	1	352	0.0028	0	c.21 others(5): Show c.2106A>T		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	11/11					chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42926429	G G	C C	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG01243.hp1 HG02451.hp1 HG03471.hp2 others(1): Show HG01243.hp1 HG02451.hp1 HG03471.hp2 NA18906.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0011 a0003c0004t0006 a0003c0004t0011	a0003c0004t0006g0241 a0003c0004t0006g0333 a0003c0004t0006g0335 others(1): Show a0003c0004t0006g0241 a0003c0004t0006g0333 a0003c0004t0006g0335 a0003c0004t0011g0051	4	352	0.0114	0	c.564 others(3): Show c.564C>G	p.Tyr others(4): Show p.Tyr188*	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/11	640/3106	564/924	188/307		chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42964145	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02630.hp1 HG02970.hp1 others(5): Show HG02258.hp1 HG02630.hp1 HG02970.hp1 HG03098.hp2 HG03225.hp1 HG03516.hp1 HG03579.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0009 a0001c0001t0018 a0001c0001t0022 others(3): Show a0001c0001t0009 a0001c0001t0018 a0001c0001t0022 a0001c0002t0007 a0001c0002t0011 a0001c0005t0008	a0001c0001t0009g0019 a0001c0001t0018g0017 a0001c0001t0018g0018 others(5): Show a0001c0001t0009g0019 a0001c0001t0018g0017 a0001c0001t0018g0018 a0001c0001t0022g0008 a0001c0002t0007g0347 a0001c0002t0011g0015 a0001c0002t0011g0016 a0001c0005t0008g0013	8	352	0.0227	1	c.332 others(6): Show c.332-7dupT		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10					chr13	TogoVar
EPSTI1_chr13_42881388_42997241	42970669	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0243 a0006c0014t0002g0243	1	352	0.0028	0	c.190 others(3): Show c.190A>G	p.Thr others(5): Show p.Thr64Ala	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	2/11	266/3106	190/924	64/307		chr13	TogoVar
EPX_chr17_58187726_58210174	58193034	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	404	0.0025	0	c.77- others(4): Show c.77-4A>T		EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding	1/12					chr17	TogoVar
EPX_chr17_58187726_58210174	58193550	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0128 a0001c0001t0005g0128	1	404	0.0025	0	c.346 others(5): Show c.346+4C>G		EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding	3/12					chr17	TogoVar
EPX_chr17_58187726_58210174	58193839	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02145.hp2 HG02257.hp2 others(7): Show HG01884.hp2 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02717.hp1 HG02896.hp1 HG02970.hp2 HG03453.hp2 HG03540.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0042 others(2): Show a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0042 a0001c0002t0003g0126 a0001c0002t0003g0127	10	404	0.0248	0	c.464 others(5): Show c.464+8C>T		EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding	4/12					chr17	TogoVar
EPX_chr17_58187726_58210174	58196934	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0072 a0002c0005t0002g0072	1	404	0.0025	0	c.802 others(5): Show c.802-5C>T		EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding	6/12					chr17	TogoVar
EPX_chr17_58187726_58210174	58200217	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0037 a0004c0003t0001g0037	2	404	0.0050	0	c.153 others(6): Show c.1538-8G>C		EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding	9/12					chr17	TogoVar
EPYC_chr12_90958682_91009972	90970142	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	346	0.0029	0	c.703 others(5): Show c.703-3C>T		EPYC	ENSG00000083782.8	transcript	ENST00000261172.8	protein_coding	5/6					chr12	TogoVar
EPYC_chr12_90958682_91009972	90978265	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(245): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0003c0004 a0004c0006 a0005c0010 a0006c0009 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0002 a0001c0005t0001 a0001c0007t0001 a0003c0004t0002 a0004c0006t0001 a0005c0010t0001 a0006c0009t0002 a0007c0008t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(180): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0002g0027 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0128 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0244 a0001c0001t0003g0007 a0001c0001t0003g0074 a0001c0003t0002g0015 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0089 a0001c0005t0001g0150 a0001c0007t0001g0190 a0003c0004t0002g0091 a0003c0004t0002g0093 a0004c0006t0001g0118 a0005c0010t0001g0158 a0006c0009t0002g0092 a0007c0008t0002g0222	248	346	0.7168	-1	c.166 others(6): Show c.166-4delT		EPYC	ENSG00000083782.8	transcript	ENST00000261172.8	protein_coding	2/6					chr12	TogoVar
EPYC_chr12_90958682_91009972	91004941	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	346	0.0029	0	c.-14 others(5): Show c.-14+6T>C		EPYC	ENSG00000083782.8	transcript	ENST00000261172.8	protein_coding	1/6					chr12	TogoVar
ERAL1_chr17_28850016_28866061	28856256	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	380	0.0026	0	c.284 others(5): Show c.284-8G>A		ERAL1	ENSG00000132591.12	transcript	ENST00000254928.10	protein_coding	1/9					chr17	TogoVar
ERAL1_chr17_28850016_28866061	28858569	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	380	0.0026	0	c.712 others(5): Show c.712-7T>C		ERAL1	ENSG00000132591.12	transcript	ENST00000254928.10	protein_coding	6/9					chr17	TogoVar
ERAP1_chr5_96769484_96812945	96786556	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(243): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19056.hp1 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(13): Show a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0022	a0002c0002 a0002c0020 a0003c0003 others(19): Show a0002c0002 a0002c0020 a0003c0003 a0004c0004 a0007c0008 a0007c0024 a0008c0007 a0009c0009 a0009c0027 a0010c0012 a0010c0018 a0011c0011 a0012c0014 a0014c0017 a0014c0022 a0015c0019 a0016c0021 a0017c0023 a0017c0032 a0018c0025 a0019c0026 a0022c0028	a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 others(41): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0002t0014 a0002c0002t0017 a0002c0002t0018 a0002c0002t0021 a0002c0002t0022 a0002c0020t0002 a0003c0003t0001 a0003c0003t0003 a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0004t0020 a0007c0008t0001 a0007c0008t0002 a0007c0008t0003 a0007c0024t0003 a0008c0007t0001 a0008c0007t0002 a0008c0007t0007 a0009c0009t0001 a0009c0009t0002 a0009c0009t0006 a0009c0009t0009 a0009c0009t0016 a0009c0027t0009 a0010c0012t0001 a0010c0018t0001 a0011c0011t0001 a0011c0011t0015 a0012c0014t0001 a0014c0017t0001 a0014c0022t0009 a0015c0019t0001 a0015c0019t0002 a0016c0021t0013 a0017c0023t0001 a0017c0032t0001 a0018c0025t0001 a0019c0026t0006 a0022c0028t0023	a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0016 others(202): Show a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0002t0001g0016 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0215 a0002c0002t0001g0219 a0002c0002t0001g0221 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0243 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0246 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0317 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0001g0320 a0002c0002t0003g0034 a0002c0002t0003g0223 a0002c0002t0003g0224 a0002c0002t0003g0237 a0002c0002t0006g0225 a0002c0002t0006g0260 a0002c0002t0008g0220 a0002c0002t0008g0238 a0002c0002t0008g0252 a0002c0002t0008g0261 a0002c0002t0008g0265 a0002c0002t0014g0264 a0002c0002t0017g0217 a0002c0002t0018g0250 a0002c0002t0021g0256 a0002c0002t0022g0218 a0002c0020t0002g0236 a0002c0020t0002g0251 a0003c0003t0001g0015 a0003c0003t0001g0185 a0003c0003t0001g0188 a0003c0003t0001g0209 a0003c0003t0003g0007 a0003c0003t0003g0014 a0003c0003t0003g0032 a0003c0003t0003g0174 a0003c0003t0003g0178 a0003c0003t0003g0179 a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0182 a0003c0003t0003g0183 a0003c0003t0003g0184 a0003c0003t0003g0186 a0003c0003t0003g0187 a0003c0003t0003g0189 a0003c0003t0003g0190 a0003c0003t0003g0191 a0003c0003t0003g0192 a0003c0003t0003g0193 a0003c0003t0003g0194 a0003c0003t0003g0196 a0003c0003t0003g0197 a0003c0003t0003g0198 a0003c0003t0003g0199 a0003c0003t0003g0200 a0003c0003t0003g0201 a0003c0003t0003g0203 a0003c0003t0003g0204 a0003c0003t0003g0205 a0003c0003t0003g0206 a0003c0003t0003g0207 a0003c0003t0003g0208 a0003c0003t0003g0211 a0003c0003t0003g0214 a0003c0003t0003g0216 a0004c0004t0001g0017 a0004c0004t0001g0018 a0004c0004t0001g0037 a0004c0004t0001g0038 a0004c0004t0001g0039 a0004c0004t0001g0055 a0004c0004t0001g0210 a0004c0004t0001g0272 a0004c0004t0001g0273 a0004c0004t0001g0274 a0004c0004t0001g0275 a0004c0004t0001g0276 a0004c0004t0001g0277 a0004c0004t0001g0278 a0004c0004t0001g0279 a0004c0004t0001g0280 a0004c0004t0001g0281 a0004c0004t0001g0282 a0004c0004t0001g0283 a0004c0004t0001g0284 a0004c0004t0001g0285 a0004c0004t0001g0286 a0004c0004t0001g0287 a0004c0004t0001g0288 a0004c0004t0001g0290 a0004c0004t0001g0292 a0004c0004t0001g0294 a0004c0004t0001g0295 a0004c0004t0001g0296 a0004c0004t0001g0297 a0004c0004t0001g0298 a0004c0004t0001g0299 a0004c0004t0001g0300 a0004c0004t0001g0301 a0004c0004t0002g0293 a0004c0004t0005g0289 a0004c0004t0020g0291 a0007c0008t0001g0053 a0007c0008t0002g0048 a0007c0008t0003g0008 a0007c0008t0003g0020 a0007c0008t0003g0021 a0007c0008t0003g0050 a0007c0008t0003g0051 a0007c0008t0003g0052 a0007c0008t0003g0054 a0007c0008t0003g0212 a0007c0008t0003g0213 a0007c0024t0003g0049 a0008c0007t0001g0027 a0008c0007t0001g0083 a0008c0007t0001g0113 a0008c0007t0001g0114 a0008c0007t0001g0116 a0008c0007t0001g0117 a0008c0007t0001g0160 a0008c0007t0002g0082 a0008c0007t0007g0084 a0008c0007t0007g0085 a0008c0007t0007g0089 a0008c0007t0007g0090 a0008c0007t0007g0091 a0008c0007t0007g0115 a0008c0007t0007g0159 a0009c0009t0001g0031 a0009c0009t0001g0168 a0009c0009t0001g0170 a0009c0009t0001g0171 a0009c0009t0001g0172 a0009c0009t0002g0169 a0009c0009t0006g0013 a0009c0009t0006g0163 a0009c0009t0006g0164 a0009c0009t0009g0156 a0009c0009t0016g0173 a0009c0027t0009g0094 a0010c0012t0001g0302 a0010c0012t0001g0308 a0010c0012t0001g0310 a0010c0012t0001g0312 a0010c0012t0001g0313 a0010c0012t0001g0314 a0010c0012t0001g0335 a0010c0018t0001g0309 a0010c0018t0001g0311 a0011c0011t0001g0043 a0011c0011t0001g0175 a0011c0011t0001g0176 a0011c0011t0001g0177 a0011c0011t0001g0331 a0011c0011t0001g0333 a0011c0011t0015g0332 a0012c0014t0001g0303 a0012c0014t0001g0304 a0012c0014t0001g0305 a0012c0014t0001g0306 a0014c0017t0001g0307 a0014c0017t0001g0315 a0014c0022t0009g0316 a0015c0019t0001g0195 a0015c0019t0002g0202 a0016c0021t0013g0057 a0016c0021t0013g0058 a0017c0023t0001g0162 a0017c0032t0001g0095 a0018c0025t0001g0222 a0019c0026t0006g0165 a0022c0028t0023g0059	246	416	0.5914	0	c.168 others(6): Show c.1680-7A>C		ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding	11/18					chr5	TogoVar
ERAP2_chr5_96871500_96924703	96886656	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02615.hp2 HG02615.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0144 a0010c0015t0001g0144	1	398	0.0025	0	c.716 others(3): Show c.716T>C	p.Val others(6): Show p.Val239Ala	ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	4/19	866/5131	716/2883	239/960		chr5	TogoVar
ERAP2_chr5_96871500_96924703	96900192	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(203): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18953.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19086.hp1 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0006 others(6): Show a0000 a0001 a0006 a0007 a0009 a0010 a0011 a0014 a0015	a0000c0010 a0001c0001 a0001c0004 others(11): Show a0000c0010 a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0001c0021 a0001c0022 a0006c0008 a0007c0012 a0009c0014 a0010c0015 a0011c0017 a0014c0023 a0015c0018	a0000c0010t0014 a0001c0001t0001 a0001c0001t0008 others(23): Show a0000c0010t0014 a0001c0001t0001 a0001c0001t0008 a0001c0001t0020 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0004t0006 a0001c0004t0007 a0001c0004t0011 a0001c0004t0015 a0001c0004t0022 a0001c0004t0024 a0001c0004t0030 a0001c0007t0001 a0001c0011t0001 a0001c0021t0001 a0001c0022t0001 a0006c0008t0008 a0006c0008t0021 a0007c0012t0001 a0009c0014t0001 a0010c0015t0001 a0011c0017t0001 a0014c0023t0001 a0015c0018t0001	a0000c0010t0014g0026 a0001c0001t0001g0005 a0001c0001t0001g0006 others(178): Show a0000c0010t0014g0026 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0065 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0127 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0008g0024 a0001c0001t0008g0045 a0001c0001t0008g0197 a0001c0001t0008g0307 a0001c0001t0020g0151 a0001c0001t0023g0216 a0001c0001t0027g0333 a0001c0001t0028g0189 a0001c0004t0006g0128 a0001c0004t0006g0130 a0001c0004t0006g0131 a0001c0004t0006g0132 a0001c0004t0006g0139 a0001c0004t0006g0147 a0001c0004t0006g0149 a0001c0004t0006g0150 a0001c0004t0006g0224 a0001c0004t0007g0114 a0001c0004t0007g0115 a0001c0004t0007g0116 a0001c0004t0007g0297 a0001c0004t0007g0298 a0001c0004t0007g0299 a0001c0004t0007g0303 a0001c0004t0011g0133 a0001c0004t0011g0134 a0001c0004t0011g0135 a0001c0004t0011g0136 a0001c0004t0011g0137 a0001c0004t0015g0129 a0001c0004t0015g0146 a0001c0004t0022g0225 a0001c0004t0024g0148 a0001c0004t0030g0226 a0001c0007t0001g0031 a0001c0007t0001g0258 a0001c0007t0001g0259 a0001c0007t0001g0260 a0001c0007t0001g0261 a0001c0007t0001g0266 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0296 a0001c0011t0001g0010 a0001c0011t0001g0184 a0001c0021t0001g0214 a0001c0022t0001g0145 a0006c0008t0008g0171 a0006c0008t0008g0172 a0006c0008t0008g0238 a0006c0008t0021g0159 a0007c0012t0001g0152 a0007c0012t0001g0154 a0009c0014t0001g0302 a0010c0015t0001g0144 a0011c0017t0001g0319 a0014c0023t0001g0217 a0015c0018t0001g0210	206	398	0.5176	0	c.157 others(6): Show c.1572+3A>G		ERAP2	ENSG00000164308.17	transcript	ENST00000437043.8	protein_coding	10/18					chr5	TogoVar

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