Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	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
EOGT_chr3_68970225_69018684	69012511	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0386 a0001c0002t0001g0386	1	444	0.0023	0	c.-71 others(5): Show c.-71+4A>G		EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	2/17					chr3	TogoVar
EOGT_chr3_68970225_69018684	69012805	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0063 a0003c0008t0063	a0003c0008t0063g0393 a0003c0008t0063g0393	1	444	0.0023	0	c.-35 others(6): Show c.-355-6C>A		EOGT	ENSG00000163378.14	transcript	ENST00000383701.8	protein_coding	1/17					chr3	TogoVar
EP300_chr22_41087592_41185077	41127755	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0242 a0001c0001t0008g0242	1	300	0.0033	0	c.116 others(6): Show c.1168+7G>C		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	4/30					chr22	TogoVar
EP300_chr22_41087592_41185077	41131380	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG01891.hp2 HG02145.hp2 others(7): Show HG01884.hp1 HG01891.hp2 HG02145.hp2 HG02717.hp1 HG02970.hp1 HG03098.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0017 a0001c0005t0072 others(1): Show a0001c0005t0016 a0001c0005t0017 a0001c0005t0072 a0001c0005t0075	a0001c0005t0016g0106 a0001c0005t0016g0109 a0001c0005t0016g0110 others(7): Show a0001c0005t0016g0106 a0001c0005t0016g0109 a0001c0005t0016g0110 a0001c0005t0016g0135 a0001c0005t0017g0107 a0001c0005t0017g0108 a0001c0005t0017g0111 a0001c0005t0017g0112 a0001c0005t0072g0113 a0001c0005t0075g0134	10	300	0.0333	0	c.128 others(6): Show c.1283-8T>C		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	5/30					chr22	TogoVar
EP300_chr22_41087592_41185077	41141230	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(287): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0004 others(28): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0016 a0001c0018 a0001c0021 a0001c0022 a0001c0023 a0001c0028 a0001c0030 a0002c0003 a0002c0024 a0002c0027 a0002c0029 a0003c0008 a0004c0020 a0005c0019 a0006c0017 a0007c0015 a0008c0014 a0009c0025 a0010c0026 a0011c0012 a0012c0031	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(109): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0001t0047 a0001c0001t0070 a0001c0001t0077 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0020 a0001c0002t0021 a0001c0002t0022 a0001c0002t0023 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0030 a0001c0002t0032 a0001c0002t0036 a0001c0002t0043 a0001c0002t0045 a0001c0002t0048 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0002t0059 a0001c0002t0060 a0001c0002t0061 a0001c0002t0062 a0001c0002t0063 a0001c0002t0064 a0001c0002t0065 a0001c0002t0069 a0001c0002t0071 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0007 a0001c0004t0008 a0001c0004t0010 a0001c0004t0011 a0001c0004t0025 a0001c0004t0026 a0001c0004t0033 a0001c0004t0034 a0001c0004t0035 a0001c0004t0044 a0001c0004t0076 a0001c0005t0016 a0001c0005t0017 a0001c0005t0072 a0001c0005t0075 a0001c0006t0003 a0001c0006t0007 a0001c0006t0010 a0001c0006t0046 a0001c0007t0003 a0001c0007t0066 a0001c0007t0067 a0001c0009t0002 a0001c0010t0005 a0001c0011t0031 a0001c0013t0004 a0001c0016t0058 a0001c0018t0052 a0001c0021t0005 a0001c0022t0003 a0001c0023t0004 a0001c0028t0015 a0001c0030t0042 a0002c0003t0001 a0002c0003t0013 a0002c0003t0018 a0002c0003t0073 a0002c0024t0074 a0002c0027t0001 a0002c0029t0001 a0003c0008t0005 a0004c0020t0007 a0005c0019t0006 a0006c0017t0006 a0007c0015t0002 a0008c0014t0068 a0009c0025t0001 a0010c0026t0001 a0011c0012t0018 a0012c0031t0004	a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 others(287): Show a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0003g0249 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0004g0251 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0264 a0001c0001t0004g0266 a0001c0001t0004g0280 a0001c0001t0004g0282 a0001c0001t0005g0210 a0001c0001t0007g0286 a0001c0001t0007g0287 a0001c0001t0007g0288 a0001c0001t0008g0218 a0001c0001t0008g0238 a0001c0001t0008g0241 a0001c0001t0008g0242 a0001c0001t0008g0253 a0001c0001t0008g0254 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0274 a0001c0001t0010g0265 a0001c0001t0010g0267 a0001c0001t0011g0236 a0001c0001t0011g0252 a0001c0001t0011g0271 a0001c0001t0011g0273 a0001c0001t0011g0276 a0001c0001t0015g0189 a0001c0001t0015g0195 a0001c0001t0015g0196 a0001c0001t0019g0204 a0001c0001t0019g0205 a0001c0001t0019g0235 a0001c0001t0024g0277 a0001c0001t0024g0283 a0001c0001t0024g0284 a0001c0001t0025g0188 a0001c0001t0026g0281 a0001c0001t0037g0243 a0001c0001t0040g0263 a0001c0001t0041g0187 a0001c0001t0047g0285 a0001c0001t0070g0233 a0001c0001t0077g0248 a0001c0002t0001g0103 a0001c0002t0003g0115 a0001c0002t0004g0087 a0001c0002t0004g0092 a0001c0002t0004g0097 a0001c0002t0005g0018 a0001c0002t0005g0020 a0001c0002t0005g0070 a0001c0002t0006g0055 a0001c0002t0006g0062 a0001c0002t0006g0063 a0001c0002t0006g0082 a0001c0002t0006g0084 a0001c0002t0006g0085 a0001c0002t0006g0119 a0001c0002t0006g0122 a0001c0002t0006g0125 a0001c0002t0009g0051 a0001c0002t0009g0074 a0001c0002t0009g0079 a0001c0002t0009g0091 a0001c0002t0009g0093 a0001c0002t0009g0094 a0001c0002t0009g0105 a0001c0002t0009g0121 a0001c0002t0009g0126 a0001c0002t0009g0127 a0001c0002t0010g0056 a0001c0002t0010g0057 a0001c0002t0013g0166 a0001c0002t0014g0141 a0001c0002t0014g0164 a0001c0002t0014g0165 a0001c0002t0014g0167 a0001c0002t0014g0168 a0001c0002t0020g0054 a0001c0002t0020g0099 a0001c0002t0020g0117 a0001c0002t0021g0052 a0001c0002t0021g0080 a0001c0002t0021g0300 a0001c0002t0022g0069 a0001c0002t0022g0086 a0001c0002t0022g0098 a0001c0002t0023g0068 a0001c0002t0023g0077 a0001c0002t0023g0130 a0001c0002t0027g0076 a0001c0002t0027g0116 a0001c0002t0028g0072 a0001c0002t0028g0128 a0001c0002t0029g0095 a0001c0002t0029g0124 a0001c0002t0030g0060 a0001c0002t0030g0066 a0001c0002t0032g0101 a0001c0002t0032g0102 a0001c0002t0036g0118 a0001c0002t0043g0058 a0001c0002t0045g0075 a0001c0002t0048g0120 a0001c0002t0049g0090 a0001c0002t0050g0061 a0001c0002t0051g0065 a0001c0002t0053g0114 a0001c0002t0054g0088 a0001c0002t0055g0299 a0001c0002t0056g0078 a0001c0002t0057g0100 a0001c0002t0059g0129 a0001c0002t0060g0073 a0001c0002t0061g0059 a0001c0002t0062g0071 a0001c0002t0063g0089 a0001c0002t0064g0053 a0001c0002t0065g0083 a0001c0002t0069g0064 a0001c0002t0071g0081 a0001c0004t0002g0033 a0001c0004t0003g0003 a0001c0004t0003g0005 a0001c0004t0003g0008 a0001c0004t0003g0009 a0001c0004t0003g0010 a0001c0004t0003g0012 a0001c0004t0003g0014 a0001c0004t0003g0021 a0001c0004t0003g0022 a0001c0004t0003g0027 a0001c0004t0003g0035 a0001c0004t0003g0038 a0001c0004t0004g0006 a0001c0004t0004g0011 a0001c0004t0004g0013 a0001c0004t0004g0016 a0001c0004t0004g0040 a0001c0004t0005g0019 a0001c0004t0005g0029 a0001c0004t0005g0031 a0001c0004t0005g0034 a0001c0004t0007g0001 a0001c0004t0007g0039 a0001c0004t0008g0026 a0001c0004t0010g0036 a0001c0004t0011g0023 a0001c0004t0025g0028 a0001c0004t0026g0004 a0001c0004t0033g0002 a0001c0004t0033g0025 a0001c0004t0034g0030 a0001c0004t0034g0037 a0001c0004t0035g0017 a0001c0004t0044g0015 a0001c0004t0076g0032 a0001c0005t0016g0106 a0001c0005t0016g0109 a0001c0005t0016g0110 a0001c0005t0016g0135 a0001c0005t0017g0107 a0001c0005t0017g0108 a0001c0005t0017g0111 a0001c0005t0017g0112 a0001c0005t0072g0113 a0001c0005t0075g0134 a0001c0006t0003g0044 a0001c0006t0007g0043 a0001c0006t0007g0045 a0001c0006t0007g0046 a0001c0006t0007g0048 a0001c0006t0010g0042 a0001c0006t0046g0047 a0001c0007t0003g0198 a0001c0007t0066g0194 a0001c0007t0067g0192 a0001c0009t0002g0199 a0001c0009t0002g0200 a0001c0010t0005g0201 a0001c0010t0005g0202 a0001c0011t0031g0190 a0001c0011t0031g0191 a0001c0013t0004g0007 a0001c0016t0058g0096 a0001c0018t0052g0123 a0001c0021t0005g0298 a0001c0022t0003g0296 a0001c0023t0004g0250 a0001c0028t0015g0197 a0001c0030t0042g0041 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0104 a0002c0003t0001g0131 a0002c0003t0001g0133 a0002c0003t0001g0140 a0002c0003t0001g0142 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0175 a0002c0003t0001g0177 a0002c0003t0001g0178 a0002c0003t0001g0180 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0002c0003t0013g0136 a0002c0003t0013g0137 a0002c0003t0013g0150 a0002c0003t0013g0174 a0002c0003t0013g0176 a0002c0003t0018g0138 a0002c0003t0018g0144 a0002c0003t0018g0145 a0002c0003t0073g0132 a0002c0024t0074g0160 a0002c0027t0001g0179 a0002c0029t0001g0154 a0003c0008t0005g0203 a0003c0008t0005g0216 a0003c0008t0005g0220 a0004c0020t0007g0186 a0005c0019t0006g0297 a0006c0017t0006g0067 a0007c0015t0002g0024 a0008c0014t0068g0193 a0009c0025t0001g0139 a0010c0026t0001g0185 a0011c0012t0018g0143 a0012c0031t0004g0247	290	300	0.9667	0	c.205 others(6): Show c.2053+8G>T		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	10/30					chr22	TogoVar
EP300_chr22_41087592_41185077	41149020	G G	GT GT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG02071.hp1 HG02257.hp2 others(14): Show HG01891.hp1 HG02071.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02698.hp1 HG02738.hp2 HG02895.hp1 HG02897.hp2 HG03209.hp2 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 NA19010.hp2 NA19090.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0030 a0002c0003 a0007c0015	a0001c0001t0002 a0001c0001t0077 a0001c0002t0045 others(9): Show a0001c0001t0002 a0001c0001t0077 a0001c0002t0045 a0001c0004t0003 a0001c0004t0004 a0001c0006t0003 a0001c0006t0007 a0001c0006t0010 a0001c0006t0046 a0001c0030t0042 a0002c0003t0001 a0007c0015t0002	a0001c0001t0002g0237 a0001c0001t0077g0248 a0001c0002t0045g0075 others(14): Show a0001c0001t0002g0237 a0001c0001t0077g0248 a0001c0002t0045g0075 a0001c0004t0003g0012 a0001c0004t0003g0021 a0001c0004t0004g0013 a0001c0006t0003g0044 a0001c0006t0007g0043 a0001c0006t0007g0045 a0001c0006t0007g0046 a0001c0006t0007g0048 a0001c0006t0010g0042 a0001c0006t0046g0047 a0001c0030t0042g0041 a0002c0003t0001g0049 a0002c0003t0001g0050 a0007c0015t0002g0024	17	300	0.0567	1	c.224 others(7): Show c.2242-4dupT		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	12/30				INFO_REALIGN_3_PRIME	chr22	TogoVar
EP400_chr12_131944942_132085460	131979801	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp1 HG01169.hp2 HG02965.hp1 others(5): Show HG01167.hp1 HG01169.hp2 HG02965.hp1 HG02976.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2	a0004 a0006 a0017 a0004 a0006 a0017	a0004c0009 a0006c0010 a0017c0028 a0004c0009 a0006c0010 a0017c0028	a0004c0009t0004 a0006c0010t0004 a0017c0028t0004 a0004c0009t0004 a0006c0010t0004 a0017c0028t0004	a0004c0009t0004g0078 a0004c0009t0004g0079 a0004c0009t0004g0153 others(5): Show a0004c0009t0004g0078 a0004c0009t0004g0079 a0004c0009t0004g0153 a0004c0009t0004g0156 a0006c0010t0004g0150 a0006c0010t0004g0154 a0006c0010t0004g0157 a0017c0028t0004g0155	8	208	0.0385	0	c.143 others(6): Show c.1435+8G>A		EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	3/52					chr12	TogoVar
EP400_chr12_131944942_132085460	132044179	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0057 a0001c0057	a0001c0057t0012 a0001c0057t0012	a0001c0057t0012g0171 a0001c0057t0012g0171	1	208	0.0048	0	c.645 others(4): Show c.6453C>T	p.Asp others(7): Show p.Asp2151Asp	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	35/53	6583/12289	6453/9372	2151/3123		chr12	TogoVar
EP400_chr12_131944942_132085460	132054955	A A	AT AT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02056.hp2 HG02735.hp1 HG03654.hp2 others(2): Show HG02056.hp2 HG02735.hp1 HG03654.hp2 NA18952.hp2 NA19080.hp1	a0001 a0015 a0001 a0015	a0001c0018 a0001c0025 a0001c0026 others(1): Show a0001c0018 a0001c0025 a0001c0026 a0015c0027	a0001c0018t0001 a0001c0018t0005 a0001c0025t0001 others(2): Show a0001c0018t0001 a0001c0018t0005 a0001c0025t0001 a0001c0026t0002 a0015c0027t0005	a0001c0018t0001g0204 a0001c0018t0005g0203 a0001c0025t0001g0202 others(2): Show a0001c0018t0001g0204 a0001c0018t0005g0203 a0001c0025t0001g0202 a0001c0026t0002g0201 a0015c0027t0005g0205	5	208	0.0240	1	c.772 others(7): Show c.7729-7dupT		EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	43/52				INFO_REALIGN_3_PRIME	chr12	TogoVar
EPAS1_chr2_46292407_46391697	46356142	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00621.hp1 HG00673.hp1 others(73): Show HG00323.hp2 HG00621.hp1 HG00673.hp1 HG00738.hp1 HG01106.hp1 HG01256.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02257.hp1 HG02293.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18953.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18985.hp1 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19062.hp1 NA19065.hp2 NA19067.hp1 NA19076.hp1 NA19076.hp2 NA19081.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0003c0004 a0004c0007 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0036 a0001c0001t0038 a0001c0001t0040 a0002c0002t0001 a0002c0002t0005 a0002c0002t0015 a0002c0002t0020 a0003c0003t0006 a0003c0004t0021 a0004c0007t0013 a0006c0009t0004	a0001c0001t0001g0009 a0001c0001t0001g0050 a0001c0001t0001g0054 others(72): Show a0001c0001t0001g0009 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0208 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0266 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0293 a0001c0001t0001g0296 a0001c0001t0001g0308 a0001c0001t0001g0314 a0001c0001t0002g0007 a0001c0001t0002g0077 a0001c0001t0002g0129 a0001c0001t0002g0261 a0001c0001t0003g0249 a0001c0001t0003g0290 a0001c0001t0004g0051 a0001c0001t0005g0025 a0001c0001t0005g0028 a0001c0001t0005g0036 a0001c0001t0007g0174 a0001c0001t0007g0221 a0001c0001t0007g0310 a0001c0001t0017g0302 a0001c0001t0023g0139 a0001c0001t0024g0065 a0001c0001t0025g0096 a0001c0001t0036g0186 a0001c0001t0038g0287 a0001c0001t0040g0013 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0152 a0002c0002t0001g0179 a0002c0002t0001g0292 a0002c0002t0005g0016 a0002c0002t0005g0021 a0002c0002t0015g0189 a0002c0002t0015g0297 a0002c0002t0020g0018 a0003c0003t0006g0053 a0003c0004t0021g0137 a0004c0007t0013g0055 a0006c0009t0004g0223	76	326	0.2331	1	c.218 others(12): Show c.218-9_218-8insT		EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	2/15					chr2	TogoVar
EPAS1_chr2_46292407_46391697	46376532	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(77): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01952.hp2 HG01981.hp2 HG02055.hp2 HG02074.hp2 HG02135.hp2 HG02155.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03704.hp1 HG03831.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp2 NA18950.hp2 NA18956.hp1 NA18968.hp2 NA18975.hp2 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18999.hp1 NA18999.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19030.hp1 NA19065.hp2 NA19067.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0006 a0001c0010 others(6): Show a0001c0001 a0001c0006 a0001c0010 a0001c0011 a0001c0016 a0002c0002 a0003c0004 a0004c0007 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0016 a0001c0001t0027 a0001c0001t0044 a0001c0006t0029 a0001c0006t0039 a0001c0010t0016 a0001c0011t0001 a0001c0016t0005 a0002c0002t0001 a0002c0002t0005 a0002c0002t0043 a0003c0004t0008 a0004c0007t0013 a0005c0008t0042	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(72): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0269 a0001c0001t0001g0296 a0001c0001t0001g0300 a0001c0001t0001g0311 a0001c0001t0001g0316 a0001c0001t0002g0007 a0001c0001t0002g0261 a0001c0001t0003g0248 a0001c0001t0003g0263 a0001c0001t0003g0281 a0001c0001t0005g0025 a0001c0001t0007g0219 a0001c0001t0010g0003 a0001c0001t0010g0142 a0001c0001t0016g0125 a0001c0001t0027g0084 a0001c0001t0044g0213 a0001c0006t0029g0194 a0001c0006t0039g0032 a0001c0010t0016g0309 a0001c0011t0001g0105 a0001c0016t0005g0030 a0002c0002t0001g0052 a0002c0002t0001g0182 a0002c0002t0005g0012 a0002c0002t0005g0033 a0002c0002t0043g0037 a0003c0004t0008g0218 a0004c0007t0013g0055 a0004c0007t0013g0172 a0005c0008t0042g0023	80	326	0.2454	0	c.103 others(6): Show c.1035-7C>G		EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	8/15					chr2	TogoVar
EPB41L1_chr20_36149740_36237799	36187770	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02723.hp1 HG03130.hp2 HG03471.hp2 HG02723.hp1 HG03130.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0011 a0001c0002t0006 a0001c0002t0011	a0001c0002t0006g0031 a0001c0002t0011g0033 a0001c0002t0011g0211 a0001c0002t0006g0031 a0001c0002t0011g0033 a0001c0002t0011g0211	3	236	0.0127	0	c.873 others(5): Show c.873+7C>G		EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	8/21					chr20	TogoVar
EPB41L2_chr6_130834347_131068245	130863630	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(158): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01257.hp1 HG01258.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18946.hp1 NA18951.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18981.hp1 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19068.hp1 NA19068.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0009 a0001 a0004 a0009	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0013 a0001c0015 a0001c0017 a0004c0008 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0006 a0001c0003t0014 a0001c0007t0003 a0001c0013t0002 a0001c0015t0002 a0001c0017t0002 a0004c0008t0007 a0009c0012t0003	a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 others(158): Show a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0002g0006 a0001c0001t0002g0100 a0001c0001t0002g0111 a0001c0001t0002g0113 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0159 a0001c0001t0002g0187 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0328 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0003g0005 a0001c0001t0003g0108 a0001c0001t0003g0160 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0004g0244 a0001c0001t0006g0056 a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0001t0009g0001 a0001c0001t0010g0002 a0001c0002t0001g0069 a0001c0002t0001g0096 a0001c0002t0001g0247 a0001c0002t0002g0007 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0130 a0001c0002t0002g0138 a0001c0002t0002g0173 a0001c0002t0002g0195 a0001c0002t0002g0237 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0319 a0001c0002t0002g0320 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0324 a0001c0002t0002g0325 a0001c0002t0002g0326 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0341 a0001c0002t0002g0342 a0001c0002t0007g0074 a0001c0002t0007g0238 a0001c0003t0006g0020 a0001c0003t0006g0057 a0001c0003t0006g0128 a0001c0003t0014g0127 a0001c0007t0003g0184 a0001c0007t0003g0188 a0001c0013t0002g0112 a0001c0015t0002g0309 a0001c0017t0002g0059 a0004c0008t0007g0075 a0004c0008t0007g0076 a0009c0012t0003g0191	161	356	0.4523	0	c.291 others(6): Show c.2910+8A>C		EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	18/19					chr6	TogoVar
EPB41L4A_chr5_112157619_112424277	112170372	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(196): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18950.hp1 NA18950.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0021 others(21): Show a0001c0001 a0001c0002 a0001c0021 a0001c0026 a0002c0003 a0002c0007 a0002c0008 a0002c0018 a0004c0010 a0004c0011 a0004c0014 a0006c0012 a0006c0016 a0006c0023 a0007c0013 a0007c0017 a0008c0009 a0009c0029 a0010c0025 a0012c0024 a0014c0028 a0015c0027 a0016c0019 a0017c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0045 a0001c0001t0046 a0001c0001t0051 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0014 a0001c0002t0015 a0001c0002t0019 a0001c0002t0022 a0001c0002t0025 a0001c0002t0031 a0001c0002t0032 a0001c0002t0036 a0001c0002t0039 a0001c0002t0041 a0001c0002t0042 a0001c0002t0043 a0001c0002t0049 a0001c0002t0050 a0001c0021t0002 a0001c0026t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0019 a0002c0003t0026 a0002c0003t0044 a0002c0007t0002 a0002c0007t0021 a0002c0007t0030 a0002c0007t0034 a0002c0008t0001 a0002c0008t0016 a0002c0008t0021 a0002c0018t0035 a0004c0010t0011 a0004c0011t0001 a0004c0014t0011 a0006c0012t0002 a0006c0012t0015 a0006c0016t0001 a0006c0023t0002 a0007c0013t0007 a0007c0017t0002 a0008c0009t0010 a0008c0009t0023 a0009c0029t0010 a0010c0025t0001 a0012c0024t0033 a0014c0028t0003 a0015c0027t0010 a0016c0019t0010 a0017c0030t0001	a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0103 others(194): Show a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0002g0031 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0003g0219 a0001c0001t0005g0113 a0001c0001t0005g0116 a0001c0001t0005g0123 a0001c0001t0005g0139 a0001c0001t0005g0157 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0005g0179 a0001c0001t0005g0180 a0001c0001t0005g0184 a0001c0001t0005g0199 a0001c0001t0006g0013 a0001c0001t0006g0039 a0001c0001t0006g0040 a0001c0001t0007g0126 a0001c0001t0007g0141 a0001c0001t0007g0145 a0001c0001t0007g0147 a0001c0001t0007g0197 a0001c0001t0008g0009 a0001c0001t0008g0010 a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0024 a0001c0001t0014g0182 a0001c0001t0016g0044 a0001c0001t0017g0004 a0001c0001t0017g0048 a0001c0001t0018g0021 a0001c0001t0018g0051 a0001c0001t0020g0002 a0001c0001t0022g0209 a0001c0001t0024g0111 a0001c0001t0024g0129 a0001c0001t0027g0064 a0001c0001t0028g0014 a0001c0001t0029g0005 a0001c0001t0037g0135 a0001c0001t0038g0169 a0001c0001t0040g0137 a0001c0001t0045g0200 a0001c0001t0046g0104 a0001c0001t0051g0226 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0105 a0001c0002t0001g0110 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0119 a0001c0002t0001g0122 a0001c0002t0001g0127 a0001c0002t0001g0131 a0001c0002t0001g0143 a0001c0002t0001g0162 a0001c0002t0001g0168 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0185 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0201 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0212 a0001c0002t0001g0216 a0001c0002t0002g0012 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0058 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0067 a0001c0002t0003g0097 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0108 a0001c0002t0003g0115 a0001c0002t0003g0118 a0001c0002t0003g0140 a0001c0002t0003g0146 a0001c0002t0003g0159 a0001c0002t0003g0160 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0198 a0001c0002t0003g0213 a0001c0002t0005g0142 a0001c0002t0005g0150 a0001c0002t0005g0222 a0001c0002t0014g0098 a0001c0002t0014g0124 a0001c0002t0015g0046 a0001c0002t0019g0075 a0001c0002t0022g0109 a0001c0002t0025g0223 a0001c0002t0025g0224 a0001c0002t0031g0059 a0001c0002t0032g0042 a0001c0002t0036g0125 a0001c0002t0039g0173 a0001c0002t0041g0082 a0001c0002t0042g0194 a0001c0002t0043g0165 a0001c0002t0049g0094 a0001c0002t0050g0225 a0001c0021t0002g0016 a0001c0026t0001g0203 a0002c0003t0001g0155 a0002c0003t0002g0006 a0002c0003t0003g0096 a0002c0003t0006g0038 a0002c0003t0006g0054 a0002c0003t0006g0055 a0002c0003t0006g0056 a0002c0003t0012g0095 a0002c0003t0012g0215 a0002c0003t0012g0218 a0002c0003t0012g0221 a0002c0003t0019g0073 a0002c0003t0026g0003 a0002c0003t0044g0220 a0002c0007t0002g0052 a0002c0007t0021g0076 a0002c0007t0030g0053 a0002c0007t0034g0079 a0002c0008t0001g0132 a0002c0008t0001g0214 a0002c0008t0016g0057 a0002c0008t0021g0078 a0002c0018t0035g0077 a0004c0010t0011g0071 a0004c0010t0011g0072 a0004c0010t0011g0080 a0004c0011t0001g0152 a0004c0011t0001g0153 a0004c0014t0011g0069 a0004c0014t0011g0070 a0006c0012t0002g0047 a0006c0012t0015g0045 a0006c0016t0001g0130 a0006c0023t0002g0015 a0007c0013t0007g0106 a0007c0013t0007g0107 a0007c0017t0002g0029 a0008c0009t0010g0049 a0008c0009t0010g0050 a0008c0009t0023g0202 a0009c0029t0010g0037 a0010c0025t0001g0138 a0012c0024t0033g0074 a0014c0028t0003g0163 a0015c0027t0010g0036 a0016c0019t0010g0011 a0017c0030t0001g0188	199	228	0.8728	0	c.167 others(6): Show c.1671-3C>T		EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	19/22					chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112204369	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0002 a0006c0023t0002	a0006c0023t0002g0015 a0006c0023t0002g0015	1	228	0.0044	0	c.137 others(6): Show c.1376+6C>T		EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	15/22					chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109185481	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG01123.hp2 HG01167.hp2 HG00642.hp1 HG01123.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0092 a0001c0001t0002g0179 a0001c0001t0003g0243 a0001c0001t0001g0092 a0001c0001t0002g0179 a0001c0001t0003g0243	3	318	0.0094	0	c.241 others(6): Show c.2418+8C>A		EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	23/25					chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109194214	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG01192.hp2 HG01243.hp1 others(25): Show HG00639.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01884.hp1 HG01884.hp2 HG02109.hp2 HG02280.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03942.hp1 NA18906.hp1 NA19030.hp2 NA19240.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0002c0005 a0008c0019	a0001c0001t0012 a0001c0002t0002 a0001c0002t0012 others(13): Show a0001c0001t0012 a0001c0002t0002 a0001c0002t0012 a0001c0002t0022 a0001c0002t0028 a0001c0002t0050 a0001c0002t0061 a0001c0010t0058 a0002c0005t0008 a0002c0005t0009 a0002c0005t0016 a0002c0005t0025 a0002c0005t0035 a0002c0005t0051 a0002c0005t0064 a0008c0019t0069	a0001c0001t0012g0143 a0001c0002t0002g0183 a0001c0002t0012g0135 others(25): Show a0001c0001t0012g0143 a0001c0002t0002g0183 a0001c0002t0012g0135 a0001c0002t0012g0208 a0001c0002t0012g0209 a0001c0002t0022g0075 a0001c0002t0022g0079 a0001c0002t0028g0081 a0001c0002t0050g0134 a0001c0002t0061g0225 a0001c0010t0058g0215 a0002c0005t0008g0082 a0002c0005t0009g0132 a0002c0005t0009g0155 a0002c0005t0009g0158 a0002c0005t0009g0189 a0002c0005t0009g0190 a0002c0005t0009g0195 a0002c0005t0016g0047 a0002c0005t0016g0078 a0002c0005t0016g0125 a0002c0005t0025g0247 a0002c0005t0025g0252 a0002c0005t0025g0255 a0002c0005t0035g0301 a0002c0005t0051g0160 a0002c0005t0064g0245 a0008c0019t0069g0312	28	318	0.0881	0	c.222 others(6): Show c.2223+6G>A		EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	21/25					chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109258173	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0008 a0002c0003t0008	a0002c0003t0008g0059 a0002c0003t0008g0059	1	318	0.0031	0	c.752 others(5): Show c.752+4C>T		EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	7/25					chr9	TogoVar
EPB41L4B_chr9_109166974_109326059	109263044	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	318	0.0031	0	c.631 others(5): Show c.631+6T>G		EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	6/25					chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120127681	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0113 a0001c0001t0004g0113	1	278	0.0036	0	c.133 others(6): Show c.1338-7A>G		EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	16/24					chr2	TogoVar
EPB41L5_chr2_120008077_120184119	120131599	C C	CT CT	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG01109.hp1 HG01891.hp1 others(12): Show HG00639.hp2 HG01109.hp1 HG01891.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 others(12): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0109 a0001c0001t0002g0276	15	278	0.0540	1	c.150 others(7): Show c.1502-9dupT		EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	17/24				INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB42_chr15_43192227_43226018	43207195	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	3	288	0.0104	0	c.131 others(6): Show c.1318+4C>T		EPB42	ENSG00000166947.15	transcript	ENST00000441366.7	protein_coding	9/12					chr15	TogoVar
EPB42_chr15_43192227_43226018	43208779	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp1 HG01891.hp2 HG02055.hp1 others(17): Show HG00621.hp1 HG01891.hp2 HG02055.hp1 HG02129.hp1 HG02132.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG02922.hp1 HG02965.hp2 HG03139.hp1 HG03486.hp1 HG03516.hp2 NA18906.hp1 NA18980.hp2 NA19055.hp1 NA19084.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008	a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 a0001c0008t0002	a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0002t0002g0008 others(10): Show a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0002t0002g0008 a0001c0002t0002g0018 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0004t0002g0017 a0001c0008t0002g0029	20	288	0.0694	0	c.833 others(5): Show c.833-4A>G		EPB42	ENSG00000166947.15	transcript	ENST00000441366.7	protein_coding	6/12					chr15	TogoVar
EPC1_chr10_32262751_32352158	32286841	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19072.hp2 NA19072.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0185 a0005c0011t0001g0185	1	318	0.0031	0	c.124 others(4): Show c.1244C>A	p.Pro others(6): Show p.Pro415His	EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding	9/14	1487/3997	1244/2442	415/813		chr10	TogoVar
EPCAM_chr2_47364311_47392020	47377009	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp1 HG01069.hp1 HG01071.hp1 others(4): Show HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01192.hp2 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 others(4): Show a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340	7	450	0.0156	0	c.492 others(5): Show c.492-5T>C		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	4/8					chr2	TogoVar
EPCAM_chr2_47364311_47392020	47379969	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0141 a0001c0009t0001g0141	1	450	0.0022	0	c.858 others(3): Show c.858G>A	p.Leu others(6): Show p.Leu286Leu	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	7/9	1053/1547	858/945	286/314		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47385159	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp2 HG02630.hp2 HG03098.hp1 others(2): Show HG02559.hp2 HG02630.hp2 HG03098.hp1 HG03098.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0047 a0001c0001t0004g0341 a0001c0001t0004g0342 others(1): Show a0001c0001t0004g0047 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0350	5	450	0.0111	0	c.859 others(5): Show c.859-7C>T		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	7/8					chr2	TogoVar
EPCAM_chr2_47364311_47392020	47385160	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 HG00621.hp2 HG02056.hp1 others(1): Show HG00597.hp1 HG00621.hp2 HG02056.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0227 a0001c0001t0002g0228 others(1): Show a0001c0001t0002g0216 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0240	4	450	0.0089	0	c.859 others(5): Show c.859-6A>G		EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	7/8					chr2	TogoVar
EPG5_chr18_45842609_45972329	45865765	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG01175.hp1 HG01243.hp1 others(10): Show HG00735.hp1 HG01175.hp1 HG01243.hp1 HG01258.hp2 HG01358.hp1 HG01975.hp2 HG01981.hp2 HG02109.hp2 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG06807.hp1 NA18994.hp2	a0001 a0003 a0028 a0001 a0003 a0028	a0001c0001 a0003c0003 a0028c0045 a0001c0001 a0003c0003 a0028c0045	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0003c0003t0003 a0028c0045t0001	a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0080 others(10): Show a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0003g0132 a0001c0001t0004g0058 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0076 a0001c0001t0009g0161 a0003c0003t0003g0191 a0028c0045t0001g0115	13	304	0.0428	1	c.662 others(7): Show c.6622-7dupT		EPG5	ENSG00000152223.16	transcript	ENST00000282041.11	protein_coding	38/43					chr18	TogoVar
EPG5_chr18_45842609_45972329	45865765	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 HG01891.hp1	a0018 a0018	a0018c0043 a0018c0043	a0018c0043t0023 a0018c0043t0023	a0018c0043t0023g0046 a0018c0043t0023g0046	1	304	0.0033	10	c.662 others(24): Show c.6622-16_6622-7dupTTTTTTTTTT		EPG5	ENSG00000152223.16	transcript	ENST00000282041.11	protein_coding	38/43					chr18	TogoVar
EPG5_chr18_45842609_45972329	45865765	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01496.hp1 NA20300.hp1 HG01496.hp1 NA20300.hp1	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0020 a0016c0022t0021 a0016c0022t0020 a0016c0022t0021	a0016c0022t0020g0044 a0016c0022t0021g0045 a0016c0022t0020g0044 a0016c0022t0021g0045	2	304	0.0066	12	c.662 others(26): Show c.6622-18_6622-7dupTTTTTTTTTTTT		EPG5	ENSG00000152223.16	transcript	ENST00000282041.11	protein_coding	38/43					chr18	TogoVar
EPG5_chr18_45842609_45972329	45865765	CA CA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00438.hp2 HG00621.hp1 others(72): Show HG00099.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01928.hp1 HG01943.hp2 HG01981.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02886.hp1 HG03017.hp1 HG03139.hp2 HG03491.hp1 HG03704.hp2 HG03927.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18951.hp2 NA18952.hp1 NA18955.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0008 a0017 a0018 a0026 a0030	a0001c0001 a0002c0002 a0002c0009 others(7): Show a0001c0001 a0002c0002 a0002c0009 a0002c0040 a0003c0003 a0008c0008 a0017c0023 a0018c0042 a0026c0039 a0030c0047	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(19): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0032 a0002c0002t0002 a0002c0002t0008 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0009t0002 a0002c0040t0002 a0003c0003t0002 a0008c0008t0002 a0008c0008t0028 a0017c0023t0002 a0018c0042t0022 a0026c0039t0002 a0030c0047t0002	a0001c0001t0002g0173 a0001c0001t0002g0190 a0001c0001t0004g0074 others(69): Show a0001c0001t0002g0173 a0001c0001t0002g0190 a0001c0001t0004g0074 a0001c0001t0012g0157 a0001c0001t0032g0113 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0065 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0266 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0281 a0002c0002t0002g0284 a0002c0002t0008g0050 a0002c0002t0008g0062 a0002c0002t0008g0066 a0002c0002t0008g0243 a0002c0002t0008g0244 a0002c0002t0008g0275 a0002c0002t0024g0265 a0002c0002t0025g0067 a0002c0002t0026g0235 a0002c0002t0027g0233 a0002c0002t0029g0228 a0002c0002t0030g0049 a0002c0002t0031g0048 a0002c0009t0002g0276 a0002c0009t0002g0277 a0002c0009t0002g0278 a0002c0009t0002g0279 a0002c0009t0002g0280 a0002c0040t0002g0267 a0003c0003t0002g0287 a0008c0008t0002g0018 a0008c0008t0002g0019 a0008c0008t0002g0020 a0008c0008t0002g0035 a0008c0008t0028g0017 a0017c0023t0002g0258 a0017c0023t0002g0259 a0018c0042t0022g0043 a0026c0039t0002g0242 a0030c0047t0002g0268	75	304	0.2467	-1	c.662 others(7): Show c.6622-7delT		EPG5	ENSG00000152223.16	transcript	ENST00000282041.11	protein_coding	38/43					chr18	TogoVar
EPHA10_chr1_37710976_37770120	37719904	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0162 a0001c0001t0002g0162	1	382	0.0026	0	c.256 others(6): Show c.2562+5G>C		EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	14/16					chr1	TogoVar
EPHA10_chr1_37710976_37770120	37723169	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00323.hp1 HG00639.hp2 others(42): Show HG00099.hp2 HG00323.hp1 HG00639.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02602.hp2 HG02630.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG03098.hp1 HG03195.hp1 HG03453.hp1 HG03491.hp2 HG03540.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0010 a0016 a0018	a0001c0001 a0001c0006 a0002c0002 others(5): Show a0001c0001 a0001c0006 a0002c0002 a0002c0015 a0004c0003 a0010c0017 a0016c0045 a0018c0043	a0001c0001t0001 a0001c0006t0007 a0002c0002t0001 others(5): Show a0001c0001t0001 a0001c0006t0007 a0002c0002t0001 a0002c0015t0007 a0004c0003t0003 a0010c0017t0003 a0016c0045t0003 a0018c0043t0003	a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0191 others(41): Show a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0222 a0001c0001t0001g0305 a0001c0006t0007g0176 a0001c0006t0007g0177 a0001c0006t0007g0178 a0001c0006t0007g0179 a0001c0006t0007g0180 a0001c0006t0007g0181 a0001c0006t0007g0182 a0001c0006t0007g0201 a0002c0002t0001g0240 a0002c0015t0007g0021 a0002c0015t0007g0040 a0002c0015t0007g0232 a0002c0015t0007g0233 a0004c0003t0003g0008 a0004c0003t0003g0033 a0004c0003t0003g0035 a0004c0003t0003g0072 a0004c0003t0003g0079 a0004c0003t0003g0188 a0004c0003t0003g0190 a0004c0003t0003g0192 a0004c0003t0003g0193 a0004c0003t0003g0198 a0004c0003t0003g0200 a0004c0003t0003g0204 a0004c0003t0003g0205 a0004c0003t0003g0213 a0004c0003t0003g0215 a0004c0003t0003g0216 a0004c0003t0003g0224 a0004c0003t0003g0269 a0004c0003t0003g0280 a0004c0003t0003g0284 a0010c0017t0003g0225 a0010c0017t0003g0237 a0010c0017t0003g0238 a0016c0045t0003g0123 a0018c0043t0003g0212	45	382	0.1178	0	c.183 others(6): Show c.1835-3C>T		EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	9/16					chr1	TogoVar
EPHA10_chr1_37710976_37770120	37727104	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0001 a0001c0036t0001	a0001c0036t0001g0066 a0001c0036t0001g0066	1	382	0.0026	0	c.177 others(4): Show c.1770G>A	p.Arg others(6): Show p.Arg590Arg	EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	8/17	1824/5477	1770/3027	590/1008		chr1	TogoVar
EPHA1_chr7_143386129_143413856	143391774	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(417): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024	a0001c0001 a0001c0002 a0001c0004 others(32): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0021 a0001c0025 a0001c0034 a0002c0003 a0002c0013 a0002c0031 a0003c0006 a0003c0010 a0003c0026 a0004c0005 a0007c0029 a0008c0030 a0009c0028 a0010c0027 a0011c0014 a0012c0015 a0013c0016 a0014c0037 a0015c0017 a0016c0032 a0017c0033 a0018c0023 a0019c0022 a0020c0035 a0021c0019 a0022c0024 a0023c0036 a0024c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0007t0002 a0001c0008t0001 a0001c0008t0002 a0001c0011t0003 a0001c0012t0001 a0001c0021t0001 a0001c0025t0001 a0001c0034t0002 a0002c0003t0001 a0002c0003t0005 a0002c0013t0001 a0002c0031t0001 a0003c0006t0001 a0003c0010t0001 a0003c0026t0001 a0004c0005t0001 a0007c0029t0003 a0008c0030t0001 a0009c0028t0001 a0010c0027t0001 a0011c0014t0001 a0012c0015t0001 a0013c0016t0001 a0014c0037t0001 a0015c0017t0001 a0016c0032t0001 a0017c0033t0002 a0018c0023t0001 a0019c0022t0001 a0020c0035t0001 a0021c0019t0004 a0022c0024t0003 a0023c0036t0001 a0024c0038t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(179): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0002g0039 a0001c0001t0002g0065 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0087 a0001c0001t0002g0113 a0001c0001t0003g0005 a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0003g0079 a0001c0001t0003g0091 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0125 a0001c0002t0001g0012 a0001c0002t0001g0021 a0001c0002t0001g0035 a0001c0002t0001g0047 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0173 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0186 a0001c0002t0002g0003 a0001c0002t0002g0013 a0001c0002t0002g0025 a0001c0002t0002g0048 a0001c0002t0002g0164 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0181 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0004t0001g0024 a0001c0004t0001g0033 a0001c0004t0001g0159 a0001c0004t0002g0034 a0001c0004t0002g0165 a0001c0004t0002g0177 a0001c0007t0002g0045 a0001c0007t0002g0106 a0001c0007t0002g0107 a0001c0008t0001g0055 a0001c0008t0001g0066 a0001c0008t0001g0098 a0001c0008t0002g0062 a0001c0011t0003g0041 a0001c0012t0001g0037 a0001c0021t0001g0077 a0001c0025t0001g0127 a0001c0034t0002g0178 a0002c0003t0001g0002 a0002c0003t0001g0020 a0002c0003t0001g0032 a0002c0003t0001g0046 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0146 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0005g0147 a0002c0013t0001g0144 a0002c0013t0001g0145 a0002c0031t0001g0142 a0003c0006t0001g0051 a0003c0006t0001g0053 a0003c0006t0001g0072 a0003c0006t0001g0130 a0003c0006t0001g0131 a0003c0010t0001g0026 a0003c0010t0001g0073 a0003c0026t0001g0071 a0004c0005t0001g0014 a0004c0005t0001g0184 a0007c0029t0003g0143 a0008c0030t0001g0150 a0009c0028t0001g0151 a0010c0027t0001g0092 a0011c0014t0001g0059 a0012c0015t0001g0104 a0013c0016t0001g0105 a0014c0037t0001g0162 a0015c0017t0001g0108 a0016c0032t0001g0171 a0017c0033t0002g0175 a0018c0023t0001g0115 a0019c0022t0001g0056 a0020c0035t0001g0158 a0021c0019t0004g0118 a0022c0024t0003g0090 a0023c0036t0001g0157 a0024c0038t0001g0168	420	426	0.9859	0	c.269 others(4): Show c.2698A>G	p.Met others(6): Show p.Met900Val	EPHA1	ENSG00000146904.9	transcript	ENST00000275815.4	protein_coding	17/18	2749/3310	2698/2931	900/976		chr7	TogoVar
EPHA1_chr7_143386129_143413856	143395319	G G	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA19076.hp2 NA19076.hp2	a0021 a0021	a0021c0019 a0021c0019	a0021c0019t0004 a0021c0019t0004	a0021c0019t0004g0118 a0021c0019t0004g0118	1	426	0.0024	0	c.208 others(4): Show c.2083C>A	p.Arg others(6): Show p.Arg695Arg	EPHA1	ENSG00000146904.9	transcript	ENST00000275815.4	protein_coding	12/18	2134/3310	2083/2931	695/976		chr7	TogoVar
EPHA1_chr7_143386129_143413856	143395507	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03654.hp2 HG03654.hp2	a0015 a0015	a0015c0017 a0015c0017	a0015c0017t0001 a0015c0017t0001	a0015c0017t0001g0108 a0015c0017t0001g0108	1	426	0.0024	0	c.189 others(6): Show c.1898-3C>G		EPHA1	ENSG00000146904.9	transcript	ENST00000275815.4	protein_coding	11/17					chr7	TogoVar
EPHA1_chr7_143386129_143413856	143399643	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0129 a0005c0009t0001g0129	1	426	0.0024	0	c.835 others(5): Show c.835+8C>T		EPHA1	ENSG00000146904.9	transcript	ENST00000275815.4	protein_coding	4/17					chr7	TogoVar
EPHA3_chr3_89102621_89487134	89419394	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0194 a0002c0002t0012g0194	1	200	0.0050	0	c.207 others(6): Show c.2074+4A>G		EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	11/16					chr3	TogoVar
EPHA5_chr4_65314567_65675489	65353038	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 HG02572.hp1 HG02622.hp1 others(3): Show HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02976.hp1 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0017 a0001c0001 a0001c0006 a0001c0017	a0001c0001t0027 a0001c0001t0047 a0001c0006t0044 others(2): Show a0001c0001t0027 a0001c0001t0047 a0001c0006t0044 a0001c0006t0054 a0001c0017t0025	a0001c0001t0027g0140 a0001c0001t0027g0143 a0001c0001t0047g0146 others(3): Show a0001c0001t0027g0140 a0001c0001t0027g0143 a0001c0001t0047g0146 a0001c0006t0044g0038 a0001c0006t0054g0172 a0001c0017t0025g0120	6	234	0.0256	0	c.223 others(6): Show c.2235+4G>A		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	12/16					chr4	TogoVar
EPHA5_chr4_65314567_65675489	65365009	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp2 HG02818.hp2 HG03195.hp2 others(1): Show HG01884.hp2 HG02818.hp2 HG03195.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0018 a0001c0001t0028 a0001c0001t0010 a0001c0001t0018 a0001c0001t0028	a0001c0001t0010g0139 a0001c0001t0018g0112 a0001c0001t0028g0141 others(1): Show a0001c0001t0010g0139 a0001c0001t0018g0112 a0001c0001t0028g0141 a0001c0001t0028g0142	4	234	0.0171	0	c.217 others(6): Show c.2173+8T>A		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	11/16					chr4	TogoVar
EPHA5_chr4_65314567_65675489	65404367	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	234	0.0043	0	c.179 others(6): Show c.1793+7G>C		EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	8/16					chr4	TogoVar
EPHA7_chr6_93235020_93424559	93410501	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp2 HG00408.hp2 HG00735.hp2 others(17): Show HG00280.hp2 HG00408.hp2 HG00735.hp2 HG01081.hp1 HG01433.hp2 HG02004.hp1 HG02040.hp2 HG02129.hp2 HG02273.hp2 HG03704.hp1 HG04115.hp1 NA18950.hp2 NA18966.hp1 NA18966.hp2 NA18981.hp1 NA18983.hp1 NA18989.hp1 NA19056.hp2 NA19079.hp1 NA19088.hp1	a0002 a0002	a0002c0005 a0002c0010 a0002c0014 others(1): Show a0002c0005 a0002c0010 a0002c0014 a0002c0015	a0002c0005t0001 a0002c0005t0004 a0002c0005t0018 others(6): Show a0002c0005t0001 a0002c0005t0004 a0002c0005t0018 a0002c0005t0019 a0002c0005t0024 a0002c0005t0025 a0002c0010t0003 a0002c0014t0001 a0002c0015t0002	a0002c0005t0001g0029 a0002c0005t0001g0030 a0002c0005t0001g0033 others(17): Show a0002c0005t0001g0029 a0002c0005t0001g0030 a0002c0005t0001g0033 a0002c0005t0001g0034 a0002c0005t0001g0035 a0002c0005t0004g0026 a0002c0005t0004g0027 a0002c0005t0004g0028 a0002c0005t0004g0038 a0002c0005t0004g0039 a0002c0005t0018g0251 a0002c0005t0019g0025 a0002c0005t0024g0031 a0002c0005t0025g0277 a0002c0010t0003g0022 a0002c0010t0003g0032 a0002c0010t0003g0036 a0002c0010t0003g0037 a0002c0014t0001g0023 a0002c0015t0002g0024	20	280	0.0714	0	c.832 others(3): Show c.832C>T	p.Pro others(6): Show p.Pro278Ser	EPHA7	ENSG00000135333.15	transcript	ENST00000369303.9	protein_coding	3/17	1050/6621	832/2997	278/998		chr6	TogoVar
EPHA8_chr1_22558489_22608595	22593318	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0035 a0001c0005t0003g0035	1	342	0.0029	0	c.131 others(6): Show c.1316-8C>T		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	5/16					chr1	TogoVar
EPHA8_chr1_22558489_22608595	22598153	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02145.hp1 HG02257.hp1 HG02809.hp2 others(1): Show HG02145.hp1 HG02257.hp1 HG02809.hp2 HG02922.hp2	a0004 a0004	a0004c0012 a0004c0044 a0004c0012 a0004c0044	a0004c0012t0002 a0004c0044t0002 a0004c0012t0002 a0004c0044t0002	a0004c0012t0002g0007 a0004c0012t0002g0025 a0004c0044t0002g0296 a0004c0012t0002g0007 a0004c0012t0002g0025 a0004c0044t0002g0296	4	342	0.0117	0	c.211 others(4): Show c.2119C>T	p.Arg others(6): Show p.Arg707Cys	EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	12/17	2266/5019	2119/3018	707/1005		chr1	TogoVar
EPHA8_chr1_22558489_22608595	22600891	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	342	0.0029	0	c.253 others(6): Show c.2539-7C>T		EPHA8	ENSG00000070886.12	transcript	ENST00000166244.8	protein_coding	14/16					chr1	TogoVar
EPHB2_chr1_22705839_22926500	22892884	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0049 a0003c0011t0002g0049	1	248	0.0040	0	c.142 others(4): Show c.1429G>A	p.Glu others(6): Show p.Glu477Lys	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	7/16	1573/11035	1429/2961	477/986		chr1	TogoVar
EPHB3_chr3_184556785_184587408	184575822	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp2 HG00438.hp1 HG00558.hp1 others(51): Show HG00323.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp1 HG01069.hp1 HG01071.hp1 HG01123.hp1 HG01192.hp2 HG01358.hp1 HG01884.hp1 HG01884.hp2 HG01993.hp1 HG02602.hp1 HG02602.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03490.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp2 NA18939.hp2 NA18942.hp1 NA18944.hp2 NA18949.hp2 NA18951.hp2 NA18952.hp1 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18969.hp1 NA18976.hp1 NA18990.hp2 NA18994.hp2 NA18997.hp2 NA18999.hp1 NA19005.hp2 NA19010.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19064.hp1 NA19066.hp1 NA19075.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0015 others(1): Show a0001c0003 a0001c0004 a0001c0015 a0001c0020	a0001c0003t0002 a0001c0003t0005 a0001c0003t0028 others(4): Show a0001c0003t0002 a0001c0003t0005 a0001c0003t0028 a0001c0003t0031 a0001c0004t0015 a0001c0015t0002 a0001c0020t0002	a0001c0003t0002g0005 a0001c0003t0002g0010 a0001c0003t0002g0013 others(35): Show a0001c0003t0002g0005 a0001c0003t0002g0010 a0001c0003t0002g0013 a0001c0003t0002g0019 a0001c0003t0002g0022 a0001c0003t0002g0026 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0054 a0001c0003t0002g0061 a0001c0003t0002g0062 a0001c0003t0002g0064 a0001c0003t0002g0065 a0001c0003t0002g0069 a0001c0003t0002g0070 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0075 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0097 a0001c0003t0002g0109 a0001c0003t0002g0114 a0001c0003t0002g0123 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0148 a0001c0003t0002g0166 a0001c0003t0002g0171 a0001c0003t0002g0188 a0001c0003t0005g0170 a0001c0003t0028g0073 a0001c0003t0031g0095 a0001c0004t0015g0056 a0001c0004t0015g0096 a0001c0015t0002g0051 a0001c0020t0002g0087	54	358	0.1508	0	c.857 others(5): Show c.857-8T>C		EPHB3	ENSG00000182580.3	transcript	ENST00000330394.3	protein_coding	3/15					chr3	TogoVar
EPHB3_chr3_184556785_184587408	184578010	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01169.hp1 HG02965.hp2 others(3): Show HG01167.hp2 HG01169.hp1 HG02965.hp2 HG06807.hp2 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0012 a0001c0003t0012g0021 a0001c0003t0012g0012 a0001c0003t0012g0021	6	358	0.0168	0	c.174 others(6): Show c.1748+4C>T		EPHB3	ENSG00000182580.3	transcript	ENST00000330394.3	protein_coding	8/15					chr3	TogoVar

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