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
EEF1A2_chr20_63483014_63504083	63499060	G G	C C	splice_region_variant splice_region_variant	LOW	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0219 a0001c0001t0011g0219	1	374	0.0027	0	c.-74 others(3): Show c.-74C>G		EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	1/8					chr20	TogoVar
EEF1AKMT4_chr3_184244672_184263759	184249889	A A	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0030 a0002c0011t0001g0030	1	378	0.0027	0	c.195 others(3): Show c.195A>T	p.Leu others(5): Show p.Leu65Leu	EEF1AKMT4	ENSG00000284753.2	transcript	ENST00000324557.9	protein_coding	1/3	218/975	195/768	65/255		chr3	TogoVar
EEF1B2_chr2_206154895_206167928	206162617	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	360	0.0028	0	c.523 others(5): Show c.523+3G>A		EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding	5/5					chr2	TogoVar
EEF1B2_chr2_206154895_206167928	206162904	ATTTAAAT others(20): Show ATTTAAATAAAAGATTGAAAGATTACCT	A A	splice_region_variant splice_region_variant	LOW	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	360	0.0028	-27	c.22 others(34): Show c.22_*48delTTTAAATAAAAGATTGAAAGATTACCT		EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding	6/6					chr2	TogoVar
EEF1G_chr11_62554596_62578891	62567017	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	262	0.0038	0	c.653 others(5): Show c.653-7G>A		EEF1G	ENSG00000254772.10	transcript	ENST00000329251.5	protein_coding	6/9					chr11	TogoVar
EEF1G_chr11_62554596_62578891	62567400	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02135.hp2 HG02622.hp1 HG02135.hp2 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0001 a0001c0006t0001 a0001c0005t0001 a0001c0006t0001	a0001c0005t0001g0074 a0001c0006t0001g0050 a0001c0005t0001g0074 a0001c0006t0001g0050	2	262	0.0076	0	c.651 others(3): Show c.651T>C	p.Asp others(6): Show p.Asp217Asp	EEF1G	ENSG00000254772.10	transcript	ENST00000329251.5	protein_coding	6/10	700/1446	651/1314	217/437		chr11	TogoVar
EEF2KMT_chr16_5079284_5102795	5089099	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp1 HG03195.hp1 HG03130.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	2	442	0.0045	0	c.892 others(5): Show c.892+8T>C		EEF2KMT	ENSG00000118894.15	transcript	ENST00000427587.9	protein_coding	7/7					chr16	TogoVar
EEF2KMT_chr16_5079284_5102795	5093562	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02145.hp2 HG02615.hp1 HG02896.hp1 others(3): Show HG02145.hp2 HG02615.hp1 HG02896.hp1 HG02976.hp1 HG03139.hp2 NA20300.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0007 a0002c0007t0007	a0002c0007t0007g0005 a0002c0007t0007g0104 a0002c0007t0007g0005 a0002c0007t0007g0104	6	442	0.0136	0	c.162 others(3): Show c.162T>C	p.Thr others(5): Show p.Thr54Thr	EEF2KMT	ENSG00000118894.15	transcript	ENST00000427587.9	protein_coding	3/8	218/2397	162/993	54/330		chr16	TogoVar
EEF2KMT_chr16_5079284_5102795	5093571	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp1 HG01071.hp2 HG01243.hp1 others(3): Show HG01069.hp1 HG01071.hp2 HG01243.hp1 HG02602.hp1 HG04115.hp2 NA18906.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0038 a0002c0006t0006g0049 a0002c0006t0006g0213 others(1): Show a0002c0006t0006g0038 a0002c0006t0006g0049 a0002c0006t0006g0213 a0002c0006t0006g0214	6	442	0.0136	0	c.160 others(5): Show c.160-7G>C		EEF2KMT	ENSG00000118894.15	transcript	ENST00000427587.9	protein_coding	2/7					chr16	TogoVar
EEF2K_chr16_22201278_22293738	22251325	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0212 a0001c0002t0002g0212	1	290	0.0035	0	c.618 others(5): Show c.618+3G>A		EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	6/17					chr16	TogoVar
EEFSEC_chr3_128148481_128413646	128408645	T T	C C	splice_region_variant splice_region_variant	LOW	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	272	0.0037	0	c.38 others(4): Show c.386T>C		EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	7/7					chr3	TogoVar
EEIG2_chr1_108555100_108644322	108616377	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02886.hp2 HG02895.hp1 others(2): Show HG02559.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0177 a0001c0001t0010g0178 a0001c0001t0010g0179 others(2): Show a0001c0001t0010g0177 a0001c0001t0010g0178 a0001c0001t0010g0179 a0001c0001t0010g0180 a0001c0001t0010g0181	5	272	0.0184	0	c.406 others(5): Show c.406-5T>C		EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	4/10					chr1	TogoVar
EEPD1_chr7_36148254_36306538	36284826	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG00642.hp1 HG00733.hp2 others(16): Show HG00639.hp2 HG00642.hp1 HG00733.hp2 HG01099.hp2 HG01167.hp2 HG01358.hp1 HG02165.hp2 HG02293.hp1 HG02486.hp2 HG02572.hp1 HG03490.hp2 HG03492.hp1 HG04199.hp2 HG04228.hp1 NA18983.hp1 NA18995.hp1 NA19003.hp2 NA19009.hp2 NA19074.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0002 a0001c0001 a0001c0004 a0003c0002	a0001c0001t0002 a0001c0004t0011 a0003c0002t0007 others(7): Show a0001c0001t0002 a0001c0004t0011 a0003c0002t0007 a0003c0002t0017 a0003c0002t0020 a0003c0002t0021 a0003c0002t0026 a0003c0002t0034 a0003c0002t0040 a0003c0002t0062	a0001c0001t0002g0141 a0001c0004t0011g0019 a0003c0002t0007g0042 others(16): Show a0001c0001t0002g0141 a0001c0004t0011g0019 a0003c0002t0007g0042 a0003c0002t0007g0043 a0003c0002t0007g0055 a0003c0002t0017g0017 a0003c0002t0017g0018 a0003c0002t0017g0035 a0003c0002t0017g0049 a0003c0002t0020g0054 a0003c0002t0020g0057 a0003c0002t0021g0062 a0003c0002t0021g0227 a0003c0002t0021g0249 a0003c0002t0026g0052 a0003c0002t0034g0071 a0003c0002t0034g0142 a0003c0002t0040g0041 a0003c0002t0062g0244	19	346	0.0549	0	c.117 others(6): Show c.1176+6C>T		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	5/7					chr7	TogoVar
EEPD1_chr7_36148254_36306538	36284827	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00323.hp1 HG00544.hp1 others(72): Show HG00099.hp2 HG00323.hp1 HG00544.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02027.hp2 HG02040.hp1 HG02165.hp1 HG02273.hp1 HG02300.hp2 HG02572.hp2 HG02647.hp1 HG02698.hp1 HG02738.hp2 HG02970.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 NA18941.hp1 NA18943.hp2 NA18947.hp2 NA18967.hp1 NA18978.hp1 NA18989.hp1 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19090.hp2 NA19091.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0027 a0001c0001t0030 a0001c0001t0037 a0001c0001t0039 a0001c0001t0042 a0001c0001t0045 a0001c0001t0056 a0001c0001t0069 a0001c0004t0012 a0001c0006t0002 a0001c0006t0007 a0001c0006t0020 a0002c0003t0001 a0002c0003t0002 a0002c0003t0043 a0002c0003t0059	a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0092 others(72): Show a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0289 a0001c0001t0001g0295 a0001c0001t0001g0323 a0001c0001t0002g0067 a0001c0001t0002g0131 a0001c0001t0002g0161 a0001c0001t0002g0234 a0001c0001t0002g0270 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0205 a0001c0001t0004g0215 a0001c0001t0004g0223 a0001c0001t0004g0229 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0240 a0001c0001t0004g0248 a0001c0001t0005g0021 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0007g0034 a0001c0001t0007g0044 a0001c0001t0007g0053 a0001c0001t0008g0176 a0001c0001t0008g0206 a0001c0001t0008g0214 a0001c0001t0009g0331 a0001c0001t0010g0105 a0001c0001t0010g0194 a0001c0001t0027g0056 a0001c0001t0030g0209 a0001c0001t0030g0219 a0001c0001t0037g0106 a0001c0001t0039g0002 a0001c0001t0042g0037 a0001c0001t0045g0003 a0001c0001t0056g0076 a0001c0001t0069g0312 a0001c0004t0012g0324 a0001c0006t0002g0332 a0001c0006t0007g0046 a0001c0006t0020g0045 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0002g0081 a0002c0003t0043g0022 a0002c0003t0059g0145	75	346	0.2168	0	c.117 others(6): Show c.1176+7G>A		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	5/7					chr7	TogoVar
EFCAB12_chr3_129396321_129433636	129408863	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	386	0.0026	0	c.103 others(6): Show c.1036-5C>T		EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	5/8					chr3	TogoVar
EFCAB12_chr3_129396321_129433636	129411354	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00544.hp1 HG00544.hp2 HG00558.hp1 others(92): Show HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00673.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01884.hp2 HG01928.hp1 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02622.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03710.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18968.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19089.hp1 NA19090.hp1 NA19240.hp2 NA21309.hp1	a0002 a0013 a0016 others(1): Show a0002 a0013 a0016 a0018	a0002c0002 a0002c0016 a0013c0014 others(2): Show a0002c0002 a0002c0016 a0013c0014 a0016c0017 a0018c0021	a0002c0002t0001 a0002c0002t0002 a0002c0016t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0016t0001 a0013c0014t0001 a0016c0017t0001 a0018c0021t0001	a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0011 others(57): Show a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0039 a0002c0002t0001g0047 a0002c0002t0001g0081 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0180 a0002c0002t0001g0211 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0238 a0002c0002t0002g0045 a0002c0002t0002g0226 a0002c0016t0001g0120 a0013c0014t0001g0102 a0013c0014t0001g0122 a0016c0017t0001g0121 a0018c0021t0001g0133	95	386	0.2461	0	c.839 others(3): Show c.839A>G	p.His others(6): Show p.His280Arg	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	5/9	987/2139	839/1719	280/572		chr3	TogoVar
EFCAB12_chr3_129396321_129433636	129415399	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00544.hp1 HG00544.hp2 HG00558.hp1 others(92): Show HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00673.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01884.hp2 HG01928.hp1 HG01975.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02486.hp1 HG02523.hp1 HG02622.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03710.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18968.hp1 NA18973.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19089.hp1 NA19090.hp1 NA19240.hp2 NA21309.hp1	a0002 a0013 a0016 others(1): Show a0002 a0013 a0016 a0018	a0002c0002 a0002c0016 a0013c0014 others(2): Show a0002c0002 a0002c0016 a0013c0014 a0016c0017 a0018c0021	a0002c0002t0001 a0002c0002t0002 a0002c0016t0001 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0016t0001 a0013c0014t0001 a0016c0017t0001 a0018c0021t0001	a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0011 others(57): Show a0002c0002t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0039 a0002c0002t0001g0047 a0002c0002t0001g0081 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0180 a0002c0002t0001g0211 a0002c0002t0001g0225 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0238 a0002c0002t0002g0045 a0002c0002t0002g0226 a0002c0016t0001g0120 a0013c0014t0001g0102 a0013c0014t0001g0122 a0016c0017t0001g0121 a0018c0021t0001g0133	95	386	0.2461	0	c.684 others(3): Show c.684C>T	p.Val others(6): Show p.Val228Val	EFCAB12	ENSG00000172771.13	transcript	ENST00000505956.6	protein_coding	4/9	832/2139	684/1719	228/572		chr3	TogoVar
EFCAB13_chr17_47318955_47446312	47361520	CAGTG CAGTG	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(136): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18962.hp2 NA18971.hp2 NA18977.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp1 NA18995.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19062.hp2 NA19064.hp1 NA19066.hp2 NA19067.hp1 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0006 a0001c0013 others(6): Show a0001c0001 a0001c0006 a0001c0013 a0001c0015 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0012c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0006t0001 a0001c0006t0002 a0001c0006t0003 a0001c0013t0001 a0001c0015t0001 a0001c0022t0001 a0001c0023t0002 a0001c0024t0001 a0001c0025t0001 a0012c0026t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(136): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 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 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0254 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0002g0215 a0001c0001t0002g0240 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0006t0001g0093 a0001c0006t0001g0094 a0001c0006t0001g0095 a0001c0006t0001g0097 a0001c0006t0001g0098 a0001c0006t0001g0100 a0001c0006t0002g0072 a0001c0006t0002g0073 a0001c0006t0002g0092 a0001c0006t0002g0099 a0001c0006t0002g0102 a0001c0006t0003g0096 a0001c0006t0003g0101 a0001c0013t0001g0117 a0001c0013t0001g0196 a0001c0013t0001g0197 a0001c0015t0001g0106 a0001c0015t0001g0192 a0001c0022t0001g0194 a0001c0023t0002g0228 a0001c0024t0001g0191 a0001c0025t0001g0144 a0012c0026t0001g0164	139	356	0.3905	-4	c.805 others(15): Show c.805+3_805+6delGAGT		EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	10/24				INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47409691	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03017.hp1 HG03017.hp1	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0001 a0015c0018t0001	a0015c0018t0001g0337 a0015c0018t0001g0337	1	356	0.0028	0	c.227 others(4): Show c.2278G>A	p.Glu others(6): Show p.Glu760Lys	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	21/25	2715/3957	2278/2922	760/973		chr17	TogoVar
EFCAB14_chr1_46670159_46724114	46675159	T T	C C	splice_region_variant splice_region_variant	LOW	HG01884.hp2 HG03516.hp2 HG01884.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0118 a0001c0001t0015g0119 a0001c0001t0015g0118 a0001c0001t0015g0119	2	374	0.0054	0	c.33 others(5): Show c.3302A>G		EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding	11/11					chr1	TogoVar
EFCAB2_chr1_244964682_245092837	245082076	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00423.hp2 others(90): Show HG00140.hp1 HG00280.hp1 HG00423.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03704.hp2 HG04115.hp1 HG06807.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18949.hp2 NA18952.hp2 NA18960.hp2 NA18962.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19056.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19086.hp2 NA19091.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0002t0004 a0001c0001t0002 a0001c0002t0002 a0001c0002t0004	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 others(90): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0002g0164 a0001c0002t0002g0165 a0001c0002t0002g0166 a0001c0002t0002g0167 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0180 a0001c0002t0002g0181 a0001c0002t0002g0182 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0188 a0001c0002t0002g0195 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0232 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0289 a0001c0002t0004g0034 a0001c0002t0004g0047 a0001c0002t0004g0048 a0001c0002t0004g0055 a0001c0002t0004g0064 a0001c0002t0004g0066 a0001c0002t0004g0073 a0001c0002t0004g0113	93	290	0.3207	0	c.184 others(5): Show c.184-7T>C		EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	4/7					chr1	TogoVar
EFCAB3_chr17_62375553_62421480	62391965	C C	T T	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG01081.hp2 HG01081.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0030 a0005c0006t0001g0030	1	368	0.0027	0	c.295 others(3): Show c.295C>T	p.Arg others(3): Show p.Arg99*	EFCAB3	ENSG00000172421.10	transcript	ENST00000305286.8	protein_coding	4/10	373/1546	295/1317	99/438		chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30053249	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18955.hp2 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0055	1	248	0.0040	0	c.130 others(6): Show c.1301-6C>T		EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	9/22					chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43537372	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp1 HG02970.hp1 HG02922.hp1 HG02970.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0257 a0006c0006t0001g0270 a0006c0006t0001g0257 a0006c0006t0001g0270	2	290	0.0069	0	c.404 others(6): Show c.4048+5G>T		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	29/31					chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43672313	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01515.hp2 HG01517.hp2 HG02300.hp1 HG01515.hp2 HG01517.hp2 HG02300.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0276 a0006c0006t0001g0277 a0006c0006t0001g0278 a0006c0006t0001g0276 a0006c0006t0001g0277 a0006c0006t0001g0278	3	290	0.0103	0	c.142 others(6): Show c.1420-8C>T		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	13/31					chr22	TogoVar
EFCAB7_chr1_63518525_63577693	63525568	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	374	0.0027	0	c.-1- others(4): Show c.-1-4A>G		EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	1/13					chr1	TogoVar
EFCAB7_chr1_63518525_63577693	63534220	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00733.hp1 HG00741.hp2 others(64): Show HG00558.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01256.hp1 HG01358.hp1 HG01884.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02071.hp2 HG02145.hp1 HG02257.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02738.hp1 HG02809.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp2 NA18997.hp1 NA19002.hp2 NA19007.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19076.hp1 NA19077.hp1 NA19080.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA20805.hp1	a0002 a0009 a0002 a0009	a0002c0003 a0009c0013 a0002c0003 a0009c0013	a0002c0003t0001 a0009c0013t0001 a0002c0003t0001 a0009c0013t0001	a0002c0003t0001g0001 a0002c0003t0001g0011 a0002c0003t0001g0028 others(46): Show a0002c0003t0001g0001 a0002c0003t0001g0011 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0269 a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0272 a0002c0003t0001g0273 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0001g0276 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0311 a0002c0003t0001g0312 a0009c0013t0001g0291	67	374	0.1791	0	c.804 others(5): Show c.804+4T>C		EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	6/13					chr1	TogoVar
EFCAB7_chr1_63518525_63577693	63572436	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG00733.hp1 HG00741.hp2 others(93): Show HG00558.hp1 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp2 HG01256.hp1 HG01358.hp1 HG01884.hp1 HG01978.hp1 HG01981.hp2 HG02015.hp1 HG02055.hp1 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG03834.hp2 HG04199.hp1 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18963.hp1 NA18964.hp1 NA18966.hp2 NA18969.hp1 NA18973.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18995.hp2 NA18997.hp1 NA19002.hp2 NA19007.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19076.hp1 NA19077.hp1 NA19080.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp1 NA20805.hp1	a0002 a0003 a0009 others(3): Show a0002 a0003 a0009 a0010 a0011 a0012	a0002c0003 a0003c0004 a0009c0013 others(3): Show a0002c0003 a0003c0004 a0009c0013 a0010c0019 a0011c0017 a0012c0018	a0002c0003t0001 a0003c0004t0001 a0009c0013t0001 others(3): Show a0002c0003t0001 a0003c0004t0001 a0009c0013t0001 a0010c0019t0001 a0011c0017t0001 a0012c0018t0001	a0002c0003t0001g0001 a0002c0003t0001g0011 a0002c0003t0001g0028 others(71): Show a0002c0003t0001g0001 a0002c0003t0001g0011 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0033 a0002c0003t0001g0269 a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0272 a0002c0003t0001g0273 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0001g0276 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0288 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0297 a0002c0003t0001g0298 a0002c0003t0001g0299 a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0304 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0307 a0002c0003t0001g0311 a0002c0003t0001g0312 a0003c0004t0001g0002 a0003c0004t0001g0048 a0003c0004t0001g0049 a0003c0004t0001g0050 a0003c0004t0001g0053 a0003c0004t0001g0054 a0003c0004t0001g0055 a0003c0004t0001g0056 a0003c0004t0001g0057 a0003c0004t0001g0058 a0003c0004t0001g0059 a0003c0004t0001g0060 a0003c0004t0001g0200 a0003c0004t0001g0201 a0003c0004t0001g0202 a0003c0004t0001g0203 a0003c0004t0001g0204 a0003c0004t0001g0205 a0003c0004t0001g0206 a0003c0004t0001g0207 a0003c0004t0001g0208 a0003c0004t0001g0209 a0009c0013t0001g0291 a0010c0019t0001g0061 a0011c0017t0001g0309 a0012c0018t0001g0308	96	374	0.2567	0	c.181 others(6): Show c.1816-6G>T		EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	13/13					chr1	TogoVar
EFCAB8_chr20_32853923_32966845	32875928	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp2 HG02109.hp2	a0049 a0049	a0049c0066 a0049c0066	a0049c0066t0004 a0049c0066t0004	a0049c0066t0004g0107 a0049c0066t0004g0107	1	284	0.0035	0	c.211 others(3): Show c.211C>G	p.Leu others(5): Show p.Leu71Val	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	4/27	305/4197	211/3867	71/1288		chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32906558	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0047 a0002c0002t0002g0047	1	284	0.0035	0	c.108 others(6): Show c.1089-4G>A		EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	11/26					chr20	TogoVar
EFCAB9_chr5_172189172_172208454	172199376	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	408	0.0025	0	c.137 others(5): Show c.137-7T>A		EFCAB9	ENSG00000214360.5	transcript	ENST00000398186.5	protein_coding	1/3					chr5	TogoVar
EFCAB9_chr5_172189172_172208454	172200561	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	408	0.0025	0	c.286 others(5): Show c.286-5A>G		EFCAB9	ENSG00000214360.5	transcript	ENST00000398186.5	protein_coding	2/3					chr5	TogoVar
EFCAB9_chr5_172189172_172208454	172200748	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	408	0.0025	0	c.462 others(5): Show c.462+6T>C		EFCAB9	ENSG00000214360.5	transcript	ENST00000398186.5	protein_coding	3/3					chr5	TogoVar
EFCC1_chr3_128996304_129045742	129036971	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(230): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18963.hp1 NA18965.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0008 a0001c0015 others(14): Show a0001c0001 a0001c0008 a0001c0015 a0002c0002 a0003c0003 a0003c0009 a0003c0021 a0004c0004 a0005c0005 a0007c0007 a0008c0012 a0009c0011 a0012c0013 a0013c0018 a0014c0016 a0015c0017 a0016c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0008t0005 a0001c0015t0001 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0008 a0003c0003t0013 a0003c0009t0001 a0003c0021t0001 a0004c0004t0001 a0004c0004t0003 a0005c0005t0001 a0007c0007t0001 a0008c0012t0009 a0009c0011t0001 a0012c0013t0001 a0013c0018t0001 a0014c0016t0001 a0015c0017t0001 a0016c0014t0001	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0021 others(171): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0002g0215 a0001c0001t0002g0221 a0001c0001t0003g0029 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0187 a0001c0001t0004g0039 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0191 a0001c0001t0007g0192 a0001c0001t0007g0193 a0001c0001t0010g0222 a0001c0001t0012g0181 a0001c0008t0005g0010 a0001c0015t0001g0027 a0002c0002t0001g0055 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0003g0098 a0003c0003t0001g0002 a0003c0003t0001g0007 a0003c0003t0001g0008 a0003c0003t0001g0011 a0003c0003t0001g0019 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0033 a0003c0003t0001g0036 a0003c0003t0001g0112 a0003c0003t0001g0117 a0003c0003t0001g0133 a0003c0003t0001g0134 a0003c0003t0001g0135 a0003c0003t0001g0149 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0163 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0170 a0003c0003t0001g0173 a0003c0003t0001g0175 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0183 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0195 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0209 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0002g0038 a0003c0003t0002g0217 a0003c0003t0002g0218 a0003c0003t0002g0219 a0003c0003t0002g0220 a0003c0003t0002g0223 a0003c0003t0008g0132 a0003c0003t0008g0188 a0003c0003t0013g0007 a0003c0009t0001g0245 a0003c0009t0001g0246 a0003c0009t0001g0247 a0003c0021t0001g0184 a0004c0004t0001g0012 a0004c0004t0001g0228 a0004c0004t0001g0229 a0004c0004t0001g0230 a0004c0004t0001g0232 a0004c0004t0001g0239 a0004c0004t0001g0241 a0004c0004t0001g0242 a0004c0004t0003g0233 a0004c0004t0003g0234 a0004c0004t0003g0243 a0004c0004t0003g0244 a0005c0005t0001g0003 a0005c0005t0001g0235 a0005c0005t0001g0236 a0005c0005t0001g0237 a0005c0005t0001g0238 a0007c0007t0001g0022 a0007c0007t0001g0047 a0007c0007t0001g0061 a0007c0007t0001g0084 a0008c0012t0009g0002 a0008c0012t0009g0011 a0009c0011t0001g0130 a0009c0011t0001g0131 a0012c0013t0001g0177 a0013c0018t0001g0182 a0014c0016t0001g0008 a0015c0017t0001g0113 a0016c0014t0001g0169	233	354	0.6582	0	c.145 others(6): Show c.1453-6T>C		EFCC1	ENSG00000114654.8	transcript	ENST00000683648.1	protein_coding	5/7					chr3	TogoVar
EFCC1_chr3_128996304_129045742	129039713	G G	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0001 a0014c0016t0001	a0014c0016t0001g0008 a0014c0016t0001g0008	1	354	0.0028	0	c.166 others(4): Show c.1665G>C	p.Glu others(6): Show p.Glu555Asp	EFCC1	ENSG00000114654.8	transcript	ENST00000683648.1	protein_coding	8/8	1990/3019	1665/1800	555/599		chr3	TogoVar
EFCC1_chr3_128996304_129045742	129040742	A A	G G	splice_region_variant splice_region_variant	LOW	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0222 a0001c0001t0010g0222	1	354	0.0028	0	c.89 others(4): Show c.894A>G		EFCC1	ENSG00000114654.8	transcript	ENST00000683648.1	protein_coding	8/8					chr3	TogoVar
EFEMP1_chr2_55860967_55928782	55881606	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	350	0.0029	0	c.640 others(5): Show c.640+6T>C		EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	6/11					chr2	TogoVar
EFEMP1_chr2_55860967_55928782	55881739	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0243 a0001c0001t0005g0243	1	350	0.0029	0	c.518 others(5): Show c.518-5G>A		EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	5/11					chr2	TogoVar
EFEMP2_chr11_65861441_65877800	65869979	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0030 a0001c0002t0001g0030	1	374	0.0027	0	c.608 others(5): Show c.608-3C>G		EFEMP2	ENSG00000172638.13	transcript	ENST00000307998.11	protein_coding	6/10					chr11	TogoVar
EFEMP2_chr11_65861441_65877800	65870662	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	374	0.0027	0	c.368 others(5): Show c.368-4G>A		EFEMP2	ENSG00000172638.13	transcript	ENST00000307998.11	protein_coding	4/10					chr11	TogoVar
EFHB_chr3_19874472_19939217	19884615	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03831.hp1 HG03831.hp1	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0001 a0019c0030t0001	a0019c0030t0001g0112 a0019c0030t0001g0112	1	344	0.0029	0	c.193 others(4): Show c.1934G>A	p.Gly others(6): Show p.Gly645Asp	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	11/13	2133/2860	1934/2502	645/833		chr3	TogoVar
EFHB_chr3_19874472_19939217	19905613	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(46): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00642.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02148.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03195.hp2 HG03516.hp2 HG03540.hp1 HG03704.hp1 NA18522.hp2 NA18952.hp1 NA18961.hp1 NA18985.hp1 NA18994.hp1 NA19068.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(3): Show a0001 a0002 a0008 a0016 a0018 a0027	a0001c0028 a0002c0003 a0002c0019 others(5): Show a0001c0028 a0002c0003 a0002c0019 a0002c0024 a0008c0011 a0016c0021 a0018c0025 a0027c0023	a0001c0028t0002 a0002c0003t0001 a0002c0019t0001 others(5): Show a0001c0028t0002 a0002c0003t0001 a0002c0019t0001 a0002c0024t0001 a0008c0011t0001 a0016c0021t0001 a0018c0025t0001 a0027c0023t0001	a0001c0028t0002g0227 a0002c0003t0001g0002 a0002c0003t0001g0003 others(43): Show a0001c0028t0002g0227 a0002c0003t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0030 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0045 a0002c0003t0001g0046 a0002c0003t0001g0047 a0002c0003t0001g0048 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0052 a0002c0003t0001g0053 a0002c0003t0001g0054 a0002c0003t0001g0056 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0061 a0002c0019t0001g0031 a0002c0019t0001g0051 a0002c0024t0001g0028 a0008c0011t0001g0020 a0008c0011t0001g0021 a0008c0011t0001g0022 a0008c0011t0001g0023 a0008c0011t0001g0024 a0008c0011t0001g0025 a0008c0011t0001g0026 a0008c0011t0001g0027 a0016c0021t0001g0162 a0016c0021t0001g0163 a0018c0025t0001g0029 a0027c0023t0001g0019	49	344	0.1424	0	c.141 others(6): Show c.1418+7T>G		EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	6/12					chr3	TogoVar
EFHB_chr3_19874472_19939217	19905655	CATGGCTC others(5159): Show CATGGCTCGTCCATCATTAAAATGTGGTGTTGGTACTCCATACACACTAC ACCTATGGAAACTTGATGGGTTATACTTTCGGTTCTTTGCCTCTCCTGTG GAAAAAGAAAGGAAGACTTATGACTTAAGCAACACGAATAACCTTATCAT GCAAGATGCACACTATGTTCTCATTGACATTGAAAATGAGAATGGAACAA AAAATGAAATTGTAACAGTGCAGAAACTGCACAGATTTAGCTACAGATGA CAGAAGCATTCCCCCATGTGAGCTGGGAGACTGGTGGGATGCTACACACA ACAATACGTTGTGTTAATATTTGAAAAGACATATGTAAAAAACTCCAAAG ACTCCATCAAAAAACTGTTAGAACTAATGAATTTGGCTGGGCACAGTAGC TCATGCCTGTAATCCCAGCACTTTGTGAGGCCGAGACTGGTGGATCACTT GAGGCCAGGAGTTCGAGACCAGTTCACCAGTCTGGCCAACATGGTGAAAC CGTGTCTTCTCTAAAAATTCAAAAATTAGCTGGTCATGATGGCATGCACC TGTAATCCCAGCTACTTCGGAGGCTGAGGCACGAGAATCGCTTGAACCCA GGAGGCGGAGGTTGTGGTAAGCCAAGATCGTGCCACTGCACTCCAGCCTG GGCAACAGAGTGAGGCTCTTTCTCAAAAAACAAAAGAACTAATAAGTGAA TTAAGTAAAGTCAAAGAATACAAAATCAACACATAAAAGTCCATGGCATT TCTATAAAAAATAACAACCTAGACAAAAAAGAAATCAAGAAAATAATTCA ATTTATGATAGCATAAAAAAATACTTAGGAATAAACTTAACCAAGGGGGT AAAAGACCTGTACACTGAAAACTATAAAACAATGATGAAAGAAATTGAAG AGGACACAAATAAAATGAAGATATTCATTCCATGCTCATTGATCAGAATA ATTAATTTTCTTAAAATGTTCATACTACCCAAAGCAAAATGCAGATTCAA TGTGATCCCTATCAAAATTCCAATAGCATTCTTCACAGAAATAGAAAAAA AAAAATCTTAAAAATTTATATAGAACCACAAAAGGCTCTGAATAGCCAAA GTAATTATTAGGAAAAAGAAAAAAGTTAGAGGCATCACACATCCTAAATT TAAATTATATTACAGAGCTGTAGTAATTAGAACAGTATGGTACTGGCATA AAAACAGACATACAGGCTAGTGGAACAGAATGGAGAGCCCAGAAATAAAT CCAAACATATACAATACACTAATTTTCAACAAGGGCAGCAAGAAGAAATG ACGACACAAGGATAGTCTCTTCAATAAATGGTCCTGGGAAACCTGATTTC CACATGCAACACCATACACAAAAATCAACTAAAAATAGATTAAAAAAAAA AAACTAAACGTTAAGACCTGAAACCATAAAACTCATAGAAGAAAAAATAG AGGAAAAACTTATTGACATTGGCCTTGGCAATGATGTCTTAGATACAAAA GCTCAGACTACAAAAGCAAAAATAAATAAATGAGACTACATCAAATTAAA AACCTTCTGCATAGCAAAGGAAACAATCACCAAAATGAAAAGGCAACCTA TGAGTTGGGAAAAAAATATTTGCAAACTATGTATCTGATAGAGGGTTAAT ATTCAAAATTTATAGAAAATATGTAGCTCAATTCTTAAAATGGGTGAAGA ACTTTAATATTTAGAAAGTAAGTAAGGACATTGTATGGGAAAAAGAGATA TCAATGATGAAAAACTGCAGGGTCTCCACCATTGTTATGGAAATCCTGAA GATCAAGGGAGGTATGGCAATGATTTAGGTCTCTGGCAGCACTTTCCACT ATGCTAAGATTTGAGAGGTTTGGTGTTTTGCACTTGTTCTCACTGAGATT TGGTGCGATCATCAGAACATTGCGACCCTCATATTTCATTTACCTCATAT TAGAAACATTCAAAGGGTGATTGAGAGCTGAGAAACCAACAGAGGAGTCT TTTTATTTAAAACTGAATACTGTGCTTTTTTCTTTTCAAGTCTTGATGTG GTATTAGTTTTCTATTTCGAGATAAGAAAGTAGGACTGAAACTAGAGAAC AACCAAGAGGGTAAGAAATGTTGGAGTAAAGATATTCAGCCTCACTAGTA ACTCAAATAATGTAAATAAAAACAGTAAATGTCTTGTTATTGAAGTAACA AGAAATTATAATTGTCTCTTAGTTAAGCAAAAATAAAGAAGATTGGCTGA GCTCATTATTGGGAAGGGTGTGGAGAAATGGATATTCTCATACTCTGGGT CTAAGGGCAAATTGGGCAGTAATTTGAGCTGACAGTTTGGCTCTAAAAGT AAAAATTTCTCAGAAATCTAGGAATGTAACTTAAGGAAATAGCCAATCAC ATTTACAAAGGTATATCAACAATATGTTTTTGTAATAGTGAAAATATAAT GTAGATACTGACATGAAAAGACATTCCAAAATATTTCATAAGACAAAAAA AGCAAAAGGAAAAATGTATATATGATGTGGAACAAAATGAACATACATAC TGATATATACAAAAGTGCAAAGAAAAACATCTATGAACATATTATCGGCT GGGCGCAGTGGCTCACGCCTGTAATCCTAGCACTTTAGGAGGCCAAGGCA GATGGATCGCCTGAGATTAGAAGTTCGAGACCAGCCTGACCAACACGGTG AAACCCAGTCTCTACTAAAAATACAGAAATTAGCCAGGCATGGTGGCGGG CGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAA CCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCAGGCCACTTCACTCCAG CCTGGACGAAAGAGCAAAACTCCGTCTCAAAAAAAGAAAGAAAGAGAGAA AGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AAAGAAAGTTCTGTGTGAGATAGAGAATTGTGGGAATTTTTTGTATATTG TATATTTCTGTATAGCTTTCATTTTATAAAAGTATCTATCACTTTAGTAA TGATTAAAATTAAGTTATTTTAAAGTATTAAGTGTATTTTAAATGTTGTA GGTCCATATTTATTGCTATCTACATATTATTTAAGTAAAAAATTTAAAAT ATATAGAGCAGGCTCCCTAAAAGCATGGAGAGTATTATCCCATTTATTTA ATGATTAATGATTTAATGGCTGAATGGATGGGGGTTAGAAAAAATGTTCA GAGAGAGGAAGTGGAGCAAGACGGCAGAATAGAAAGCTCCACTGATCATG TCCCAGTCCCGTGTCCCAGACCCACACCCGCCCCCCACCCCCTACAAGGA CCAAGTTGACAACTATCTACACAGATATGAGTGCCCATCTCAAAAATCAG GTGGGCAACTCATAGTACTTGATTTTAACTTCATAGCACTGAAAAAAAAA AGGCACTCAAGAGATAGAAAAAATAGTTTTGAATCACAGACACCACCCCT CCCCAACCCCGGCAGCAGCAGAGTGATGGGCAGAGCTTCTCCTGGCACCA GGGCAGGGAGAACACAGCAATTGTGAGGTATCAAACTCAGTGCTTTCCTG TTAGAGCAGAATGGAAAACTGAACCAAACTCAGCTGATGCCCGTCCCCAG AGGCAGCATTTAAATCAGCCCCACCAGAAAAGGAATTGCCAATCCCAGTA GTCCAAACTTGAGTGCCTGCAAACCTCGCCACCAAGGGCTACAGCACTCT GTGTCTCCAAGTAACCTTGAAAGGCAGTCTAGGCCATAAGGACTGGAACT CTTAGGCGACTCCCAGAGCAGAACCAGGCCCAGAGACAGTGGACTGGGGG TGGGGTAGGTGGTGGGATACATGTCATACTGGGACACCAGCTGGGGCAGC CAAGGGAATGCTGGCATCACCCCTCCCTTAACCCCAGGCTGCACAGCTCC GCTCATGGCTCCAAAAGGGACCCCTTCCTTCCGCTTGAGGAGAGGAGAGG GAAGAGCAGGGAAGACTTCACCTTGCATCTAGGACACCACCTCAGCCACA GCAAGATAGGGCACTGTGGGACTCAGGAGGCCGCCATTCCAGGCCCTGGT TTGCAGATGACGTTTCTAGACACATCCGGGGCCAAAAGGATGTGTCTTTC CTTCACTGCCTTGAAGGAAAGAACCCAATCCTGGCAGCATTCATCACCTG CTAACCGAAGAGCTCTTGGGCCCTGAATAACCAGCTGCAGTTATTCAGGG CCCAGGTAGTATATCAAGGGCCTTGGGTAAGCCTCTGAGACTTCCTGGCT TCAGAAGAGACTTAGCACATTACCAGCTGTGGTAGCTACAGAGCAAAACT CCTTCTGCTTGAGAAAAGTAGAGGGAAAAGTAAGGGGAACTTTGTCCTAC ACCTTGGGTACCAGCATGGCCACAGGGGAGCAGAGCACGAAGCAGGCTCT TAGGGTTCCTGATTCCAGGACTTGGCTCTTGAATAGCATTTCTAGACCTG CTCTGGGCCATAGAGGAATCCACTTCCCTGAAGGGTAAGTCCCAGGCCAT TAACTTCAAGCTGACTTAAGAGACCTTGGGCCTTAAGAGAACATTGGTGG TAGTCTGGCAGTATTCCTCATGGCCTGGGGTGGCGGTGGCTACCCAGTGA GGTTCCTCTGTCTTTGGGAGGGGGAGGGAAGAGTGGGAAAGACTGTATCT TGTGGTTTGAGTGCCAGCTCAGCTGCAATACAGTAGAATACCTGGTAGAC GTCTAAAATTTTTGACTCTAGTCCTTGACTCCCAGACAGTACTTCTGTAC CCACCCAGGGCCTGGGGGACCTCACCACCCTGAAGGGAAGGACACAGGCC TGGCTGGCTTTACCACCTGTTAATTGTAGAGCCCCAGGACCTTGAGTGAA CGTAGGCTGCAGCCAGAGGTTGAGTACAGCAGGACTTGGGTGAGACCAAA TGCTACACTAGCTTCAAGTCTGATCCAATACAGTCAGCAGTGGTGGCCAC AGGGGTACTTGTGTCACTCAACCCCCAGCTTTAGGTGGCTCAGAACCGAG AGAAAGACTGTATGTTTAGGAGAAAGTAAAGGAAAAGAACATGAGCCTCT GCCTTGTAACCCAGGGA	C C	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03831.hp2 HG03831.hp2	a0025 a0025	a0025c0037 a0025c0037	a0025c0037t0001 a0025c0037t0001	a0025c0037t0001g0136 a0025c0037t0001g0136	1	344	0.0029	-5166	c.128 others(14): Show c.1288+4482_1382del	p.Glu others(5): Show p.Glu431fs	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	6/13	1581/2860	1289/2502	430/833		chr3	TogoVar
EFHC2_chrX_44142872_44348672	44147873	TC TC	T T	splice_region_variant splice_region_variant	LOW	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0016 a0011c0013t0016	a0011c0013t0016g0157 a0011c0013t0016g0157	1	221	0.0045	-1	c.92 others(5): Show c.921delG		EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	15/15					chrX	TogoVar
EFHC2_chrX_44142872_44348672	44250442	CA CA	C C	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0016 a0011c0013t0016	a0011c0013t0016g0157 a0011c0013t0016g0157	1	221	0.0045	-1	c.609 others(4): Show c.609delT	p.Val others(5): Show p.Val204fs	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	5/15	693/3257	609/2250	203/749		chrX	TogoVar
EFHC2_chrX_44142872_44348672	44250449	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19055.hp1 NA19055.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0016 a0011c0013t0016	a0011c0013t0016g0157 a0011c0013t0016g0157	1	221	0.0045	1	c.607 others(6): Show c.607-5dupT		EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14					chrX	TogoVar
EFL1_chr15_82125233_82267734	82241401	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02451.hp1 HG02896.hp2 HG02897.hp1 others(3): Show HG02451.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp2 NA21309.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0037 a0007c0010t0001g0038 a0007c0010t0001g0039 others(3): Show a0007c0010t0001g0037 a0007c0010t0001g0038 a0007c0010t0001g0039 a0007c0010t0001g0040 a0007c0010t0001g0340 a0007c0010t0001g0341	6	368	0.0163	0	c.247 others(3): Show c.247A>G	p.Asn others(5): Show p.Asn83Asp	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	5/20	387/3643	247/3363	83/1120		chr15	TogoVar
EFL1_chr15_82125233_82267734	82261682	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0350 a0001c0003t0001g0350	1	368	0.0027	0	c.91+ others(4): Show c.91+6A>G		EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	2/19					chr15	TogoVar
EFNA1_chr1_155122876_155139899	155128069	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18956.hp1 NA18956.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0005 a0005c0006t0002g0005	1	350	0.0029	0	c.92A others(2): Show c.92A>G	p.Lys others(5): Show p.Lys31Arg	EFNA1	ENSG00000169242.12	transcript	ENST00000368407.8	protein_coding	1/5	194/1552	92/618	31/205		chr1	TogoVar
EFNB1_chrX_68824021_68847160	68840235	TC TC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18989.hp1 NA18989.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0024 a0005c0004t0024	a0005c0004t0024g0137 a0005c0004t0024g0137	1	335	0.0030	-1	c.629 others(6): Show c.629-5delC		EFNB1	ENSG00000090776.6	transcript	ENST00000204961.5	protein_coding	4/4				INFO_REALIGN_3_PRIME	chrX	TogoVar

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Search Results (Total: 10000 hits)