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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ELP1_chr9_108862517_108939124	108900809	A A	ACACACAC others(25): Show ACACACACATACACGCCACACACACATACACGC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0009 a0007c0010t0009	a0007c0010t0009g0383 a0007c0010t0009g0383	1	416	0.0024	32	c.201 others(49): Show c.2015-466_2015-435dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ELP1_chr9_108862517_108939124	108900826	A A	ACACACAC others(25): Show ACACACACATACACGCCACACACACATACACGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp1 HG00673.hp2 others(16): Show HG00280.hp1 HG00544.hp1 HG00673.hp2 HG02015.hp2 HG02486.hp2 HG02572.hp1 HG02647.hp1 HG03098.hp1 NA18906.hp2 NA18989.hp2 NA18998.hp2 NA19000.hp2 NA19012.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19078.hp2 NA19240.hp1 NA20300.hp1	a0002 a0006 a0023 a0002 a0006 a0023	a0002c0003 a0006c0006 a0023c0037 a0002c0003 a0006c0006 a0023c0037	a0002c0003t0001 a0006c0006t0008 a0023c0037t0001 a0002c0003t0001 a0006c0006t0008 a0023c0037t0001	a0002c0003t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0007 others(13): Show a0002c0003t0001g0005 a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0031 a0002c0003t0001g0038 a0002c0003t0001g0039 a0002c0003t0001g0041 a0002c0003t0001g0042 a0006c0006t0008g0364 a0006c0006t0008g0365 a0006c0006t0008g0366 a0006c0006t0008g0372 a0006c0006t0008g0373 a0006c0006t0008g0374 a0006c0006t0008g0377 a0023c0037t0001g0037	19	416	0.0457	32	c.201 others(49): Show c.2015-483_2015-452dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ELP1_chr9_108862517_108939124	108900843	A A	ACACACAC others(25): Show ACACACACATACACGCCACACACACATACACGC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18963.hp1 NA18964.hp2 others(1): Show NA18943.hp1 NA18963.hp1 NA18964.hp2 NA18993.hp1	a0002 a0011 a0022 a0002 a0011 a0022	a0002c0003 a0011c0020 a0022c0038 a0002c0003 a0011c0020 a0022c0038	a0002c0003t0007 a0011c0020t0007 a0022c0038t0007 a0002c0003t0007 a0011c0020t0007 a0022c0038t0007	a0002c0003t0007g0112 a0011c0020t0007g0128 a0011c0020t0007g0129 others(1): Show a0002c0003t0007g0112 a0011c0020t0007g0128 a0011c0020t0007g0129 a0022c0038t0007g0100	4	416	0.0096	32	c.201 others(49): Show c.2015-500_2015-469dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ELP4_chr11_31504767_31795324	31668675	C C	CATGTGTG others(25): Show CATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0176 a0001c0001t0047g0176	1	270	0.0037	32	c.114 others(53): Show c.1143+18454_1143+18455insATGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	9/9			chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48023490	G G	GGAGGGAA others(25): Show GGAGGGAAGGAAGGGAGGAAGGAAGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(215): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0012 a0013 a0017	a0001c0001 a0001c0022 a0002c0002 others(9): Show a0001c0001 a0001c0022 a0002c0002 a0003c0003 a0004c0004 a0006c0013 a0006c0014 a0007c0008 a0008c0009 a0012c0015 a0013c0018 a0017c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0004c0004t0001 a0004c0004t0002 a0006c0013t0001 a0006c0014t0002 a0007c0008t0001 a0008c0009t0001 a0008c0009t0002 a0012c0015t0001 a0012c0015t0002 a0013c0018t0001 a0013c0018t0002 a0017c0021t0002	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 others(215): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0183 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0331 a0001c0001t0001g0351 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0385 a0001c0001t0001g0386 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0005g0006 a0001c0001t0005g0067 a0001c0001t0006g0258 a0001c0001t0006g0259 a0001c0001t0007g0301 a0001c0001t0008g0069 a0001c0001t0010g0245 a0001c0001t0011g0239 a0001c0022t0001g0097 a0002c0002t0001g0091 a0002c0002t0001g0282 a0002c0002t0002g0197 a0003c0003t0002g0186 a0003c0003t0002g0244 a0004c0004t0001g0064 a0004c0004t0001g0072 a0004c0004t0001g0304 a0004c0004t0001g0336 a0004c0004t0001g0366 a0004c0004t0002g0125 a0004c0004t0002g0181 a0004c0004t0002g0191 a0004c0004t0002g0252 a0006c0013t0001g0372 a0006c0013t0001g0382 a0006c0014t0002g0136 a0006c0014t0002g0185 a0007c0008t0001g0328 a0007c0008t0001g0329 a0007c0008t0001g0347 a0007c0008t0001g0348 a0008c0009t0001g0354 a0008c0009t0002g0153 a0012c0015t0001g0277 a0012c0015t0002g0235 a0013c0018t0001g0018 a0013c0018t0002g0180 a0017c0021t0002g0254	218	388	0.5619	32	c.7+ others(47): Show c.7+1157_*7+1158insAGGGAAGGAAGGGAGGAAGGAAGGGAGGGA AG	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC10_chr19_50471507_50495871	50486382	G G	GGGTTTTT others(25): Show GGGTTTTTATTTTTGTTTTTTTTTGGGTTGGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0002 a0001c0001t0137g0002	1	352	0.0028	32	c.41 others(43): Show c.4123_*4124insGGTTTTTATTTTTGTTTTTTTTTGGGTTGGTT	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding	7/7	4124		chr19	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(25): Show AACACACACACACACACACACACACCCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG02486.hp2 HG02683.hp2 others(3): Show HG00733.hp2 HG02486.hp2 HG02683.hp2 HG02886.hp1 HG03239.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0051 others(3): Show a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0016g0048 a0001c0001t0016g0049	6	364	0.0165	32	c.-30 others(41): Show c.-309_-308insACACACACACACACACACACACACCCACACCC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar
EMC2_chr8_108438624_108494196	108443355	A A	ACACACAC others(25): Show ACACACACACACACACACACACACACCCACACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02145.hp2 others(14): Show HG01243.hp1 HG01261.hp1 HG02145.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02922.hp2 HG02976.hp2 HG03540.hp1 HG03579.hp1 NA18522.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0004 a0001c0001t0020	a0001c0001t0004g0028 a0001c0001t0004g0156 a0001c0001t0004g0157 others(14): Show a0001c0001t0004g0028 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0182 a0001c0001t0004g0250 a0001c0001t0020g0164	17	364	0.0467	32	c.-30 others(41): Show c.-304_-303insCACACACACACACACACACACACACCCACACC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		268		chr8	TogoVar
EMC3_chr3_9957682_9991841	9963477	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0126 a0001c0001t0038g0126	1	322	0.0031	32	c.59 others(41): Show c.591_*592insAAAATATATATATATATATATATATATATATA	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	591		chr3	TogoVar
EMC3_chr3_9957682_9991841	9963477	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0078 a0001c0001t0048g0078	1	322	0.0031	32	c.59 others(41): Show c.591_*592insAAAAAAAAAAAAAAAATATATATATATATATA	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	591		chr3	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(25): Show CACACACACACACACACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	410	0.0024	32	c.356 others(49): Show c.356+2088_356+2089insATATATATATATATGTGTGTGTGTGTGT GTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(25): Show CACACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	410	0.0024	32	c.356 others(49): Show c.356+2088_356+2089insATATATATATATATATATATGTGTGTGT GTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMCN_chr4_100390341_100523022	100403447	A A	ATGGGCAT others(25): Show ATGGGCATCTAGGTTGGTGGGCATCTAGGTTGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0036 a0003c0003t0036	a0003c0003t0036g0160 a0003c0003t0036g0160	1	262	0.0038	32	c.40 others(49): Show c.40-5106_*40-5075dupCCAACCTAGATGCCCACCAACCTAGATG CCCA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	11/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100448795	T T	TTTTCTTT others(25): Show TTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	262	0.0038	32	c.377 others(49): Show c.377-1225_377-1224insGAAGGAAGGAAGGAAGGAAGGAAGGAAA GAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMCN_chr4_100390341_100523022	100448795	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp2 HG03453.hp1 others(1): Show HG02055.hp2 HG03041.hp2 HG03453.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0202 a0001c0001t0005g0257 a0001c0001t0011g0112 others(1): Show a0001c0001t0005g0202 a0001c0001t0005g0257 a0001c0001t0011g0112 a0001c0001t0011g0113	4	262	0.0153	32	c.377 others(49): Show c.377-1225_377-1224insGAAGGAAGGAAGGAAGGAAGGAAAGAAA GAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMILIN2_chr18_2842006_2921003	2858583	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0437 a0003c0012t0002g0437	1	452	0.0022	32	c.257 others(51): Show c.257+10653_257+10654insGTGTGTGTGTGTGTGTGTATATATAT ATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03579.hp2 HG02895.hp1 HG03579.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0305 a0003c0003t0002g0353 a0001c0001t0002g0305 a0003c0003t0002g0353	2	358	0.0056	32	c.26- others(45): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18961.hp1 HG00423.hp2 NA18961.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0004 a0003c0003t0002 a0003c0003t0004	a0003c0003t0002g0293 a0003c0003t0004g0256 a0003c0003t0002g0293 a0003c0003t0004g0256	2	358	0.0056	32	c.224 others(47): Show c.2242+54_2242+85dupATATATATATATATATATATATATATATAT AT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03491.hp1 HG03492.hp1 others(1): Show HG03486.hp2 HG03491.hp1 HG03492.hp1 NA18612.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0001c0014 a0009c0024 a0001c0002 a0001c0014 a0009c0024	a0001c0002t0020 a0001c0014t0003 a0009c0024t0003 a0001c0002t0020 a0001c0014t0003 a0009c0024t0003	a0001c0002t0020g0162 a0001c0002t0020g0163 a0001c0014t0003g0128 others(1): Show a0001c0002t0020g0162 a0001c0002t0020g0163 a0001c0014t0003g0128 a0009c0024t0003g0110	4	264	0.0152	32	c.525 others(49): Show c.525+3415_525+3416insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54823870	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0158 a0001c0003t0002g0158	1	264	0.0038	32	c.525 others(49): Show c.525+3415_525+3416insCTCTCTCTCTCTCTCTCTCTCTCTGTCT CTCT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02622.hp2 NA19081.hp2 HG00735.hp2 HG02622.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0037 a0001c0002 a0001c0004 a0001c0037	a0001c0002t0011 a0001c0004t0001 a0001c0037t0015 a0001c0002t0011 a0001c0004t0001 a0001c0037t0015	a0001c0002t0011g0136 a0001c0004t0001g0206 a0001c0037t0015g0113 a0001c0002t0011g0136 a0001c0004t0001g0206 a0001c0037t0015g0113	3	264	0.0114	32	c.243 others(51): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG04199.hp2 HG01255.hp1 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0024 a0001c0002t0001 a0001c0005t0024	a0001c0002t0001g0218 a0001c0005t0024g0050 a0001c0002t0001g0218 a0001c0005t0024g0050	2	264	0.0076	32	c.243 others(51): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54943831	A A	AACTTTTC others(25): Show AACTTTTCAGTAGGACTTCAAATTCCAGTGTGT	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0196 a0001c0003t0004g0196	1	264	0.0038	32	c.400 others(51): Show c.4005-5049_4005-5018dupCTTTTCAGTAGGACTTCAAATTCCAG TGTGTA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	28/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(25): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0022 a0002c0008t0022	a0002c0008t0022g0102 a0002c0008t0022g0102	1	264	0.0038	32	c.496 others(49): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0091 a0001c0016t0001g0091	1	264	0.0038	32	c.496 others(49): Show c.4968+869_4968+870insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54976195	A A	AGGGGGGG others(25): Show AGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0200 a0001c0004t0001g0200	1	264	0.0038	32	c.61 others(43): Show c.6100_*6101insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding		4171		chr2	TogoVar
EMP2_chr16_10523422_10585598	10575237	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA20805.hp1 HG02738.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0016 a0001c0002t0002 a0001c0001t0016 a0001c0002t0002	a0001c0001t0016g0056 a0001c0002t0002g0202 a0001c0001t0016g0056 a0001c0002t0002g0202	2	402	0.0050	32	c.-61 others(49): Show c.-61+5280_-61+5311dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
EMSY_chr11_76440018_76558031	76446349	G G	GTATATAT others(25): Show GTATATATATATGTATATATATATGTGTATATA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	360	0.0028	32	c.-39 others(47): Show c.-39-540_-39-539insGTATATATATATGTGTATATATATATATAT AT	EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ENOX1_chr13_43208130_43791972	43417242	C C	CGGGAGAC others(25): Show CGGGAGACGGGAGACGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0107 a0001c0001t0008g0107	1	188	0.0053	32	c.-74 others(49): Show c.-74-4255_-74-4254insTCTCCCTCTCCCTCTCCCGTCTCCCGTC TCCC	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43616103	G G	GATAGATA others(25): Show GATAGATATCTATATATCTATAGATATCTATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0025 a0001c0001t0008g0025	1	188	0.0053	32	c.-21 others(53): Show c.-219+51375_-219+51376insATATAGATATCTATAGATATATAG ATATCTAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43754011	T T	TATACACA others(25): Show TATACACATATATATACATATATACGTATATAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02647.hp2 others(2): Show HG02145.hp2 HG02280.hp2 HG02647.hp2 HG02809.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004	a0001c0001t0009 a0001c0002t0016 a0001c0005t0003 others(1): Show a0001c0001t0009 a0001c0002t0016 a0001c0005t0003 a0002c0004t0024	a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0002t0016g0018 others(2): Show a0001c0001t0009g0019 a0001c0001t0009g0020 a0001c0002t0016g0018 a0001c0005t0003g0052 a0002c0004t0024g0051	5	188	0.0266	32	c.-28 others(53): Show c.-285+32640_-285+32641insTTATATACGTATATATGTATATAT ATGTGTAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43754011	T T	TATACACA others(25): Show TATACACATATATATACATATATATGTATATAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02622.hp1 HG01496.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0040 a0001c0001t0005 a0001c0001t0040	a0001c0001t0005g0140 a0001c0001t0040g0139 a0001c0001t0005g0140 a0001c0001t0040g0139	2	188	0.0106	32	c.-28 others(53): Show c.-285+32609_-285+32640dupTTATATACATATATATGTATATAT ATGTGTAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	1/16			chr13	TogoVar
ENPP1_chr6_131803020_131900155	131811376	A A	ATATATCT others(25): Show ATATATCTATATCTATATCTATATCTATATATC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0118 a0002c0003t0011g0118	1	292	0.0034	32	c.240 others(49): Show c.240+3130_240+3131insATCTATATCTATATCTATATCTATATCT ATAT	ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678958	T T	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	278	0.0036	32	c.101 others(51): Show c.1011+1021_1011+1022insTTTCTTTCTTTCTTTCTTTCTTTCTT TCCTTC	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131679026	C C	CTTCCTTC others(25): Show CTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	278	0.0036	32	c.101 others(51): Show c.1011+1089_1011+1090insCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTC	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131679026	C C	CTTCCTTC others(25): Show CTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	278	0.0036	32	c.101 others(51): Show c.1011+1089_1011+1090insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP4_chr6_46124989_46151688	46142352	A A	ATATATAT others(25): Show ATATATATAATATATATAATGTATATTATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA20129.hp2 HG02615.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0030 a0002c0002t0006g0030	2	426	0.0047	32	c.998 others(47): Show c.998-908_998-877dupTAATGTATATTATATATTATATATAATATA TA	ENPP4	ENSG00000001561.7	transcript	ENST00000321037.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP4_chr6_46124989_46151688	46142392	A A	AATATATA others(25): Show AATATATATAATGTATATTATATATTATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(106): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02970.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18942.hp1 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18964.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18980.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18997.hp2 NA19001.hp1 NA19002.hp2 NA19005.hp1 NA19054.hp1 NA19056.hp2 NA19063.hp2 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0004 a0005c0007 a0002c0002 a0003c0004 a0005c0007	a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 others(6): Show a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0013 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0003c0004t0001 a0005c0007t0001	a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0025 others(15): Show a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0025 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0006g0041 a0002c0002t0007g0006 a0002c0002t0013g0002 a0002c0002t0020g0006 a0002c0002t0021g0042 a0002c0002t0022g0006 a0003c0004t0001g0002 a0003c0004t0001g0043 a0003c0004t0001g0075 a0005c0007t0001g0002	109	426	0.2559	32	c.998 others(47): Show c.998-877_998-876insTAATGTATATTATATATTATATATTATATA TA	ENPP4	ENSG00000001561.7	transcript	ENST00000321037.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP6_chr4_184083706_184222873	184131259	T T	TTTCTCTT others(25): Show TTTCTCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0254 a0001c0003t0018g0254	1	320	0.0031	32	c.422 others(49): Show c.422-6988_422-6987insGAAGGAAGGAAGGAAGGAAGGAAGGAAG AGAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184162547	A A	AGAAGGAG others(25): Show AGAAGGAGGGAGGGAAGGAGGGAAGGAAGAAAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG03130.hp1 others(3): Show HG02723.hp1 HG02965.hp1 HG03130.hp1 HG03139.hp2 HG03471.hp2 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0005 a0001c0002t0009 a0001c0003t0014 others(2): Show a0001c0002t0005 a0001c0002t0009 a0001c0003t0014 a0001c0003t0017 a0002c0001t0001	a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0002t0009g0054 others(3): Show a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0002t0009g0054 a0001c0003t0014g0167 a0001c0003t0017g0165 a0002c0001t0001g0016	6	320	0.0188	32	c.242 others(49): Show c.242-8815_242-8814insCTTTCTTCCTTCCCTCCTTCCCTCCCTC CTTC	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	1/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(25): Show CATATATATATATATACATATATACACATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01099.hp2 HG03225.hp1 others(1): Show HG00140.hp2 HG01099.hp2 HG03225.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0027 a0002c0001 a0001c0027 a0002c0001	a0001c0027t0002 a0002c0001t0001 a0001c0027t0002 a0002c0001t0001	a0001c0027t0002g0197 a0002c0001t0001g0024 a0001c0027t0002g0197 a0002c0001t0001g0024	4	430	0.0093	32	c.253 others(47): Show c.253+739_253+740insATATACATATATACACATATATATATATAT AT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732136	A A	ATATATAT others(25): Show ATATATATATATACACACACATATATATATATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(42): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00738.hp2 HG01069.hp1 HG02056.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02602.hp1 HG02735.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 NA18941.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18957.hp1 NA18965.hp1 NA18971.hp1 NA18973.hp2 NA18980.hp2 NA18984.hp1 NA18994.hp2 NA19002.hp2 NA19003.hp2 NA19012.hp1 NA19057.hp2 NA19060.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19090.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0019 a0001c0026 a0002c0012 a0013c0025	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(5): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0019t0001 a0001c0026t0001 a0002c0012t0002 a0013c0025t0001	a0001c0002t0001g0216 a0001c0002t0001g0221 a0001c0003t0001g0006 others(22): Show a0001c0002t0001g0216 a0001c0002t0001g0221 a0001c0003t0001g0006 a0001c0003t0001g0017 a0001c0003t0001g0032 a0001c0003t0001g0209 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0215 a0001c0003t0001g0218 a0001c0003t0002g0017 a0001c0003t0002g0214 a0001c0004t0002g0007 a0001c0004t0002g0036 a0001c0004t0002g0063 a0001c0004t0002g0064 a0001c0004t0002g0217 a0001c0004t0002g0219 a0001c0004t0002g0220 a0001c0019t0001g0006 a0001c0019t0001g0246 a0001c0026t0001g0017 a0002c0012t0002g0007 a0013c0025t0001g0210	45	430	0.1047	32	c.253 others(47): Show c.253+756_253+757insCACACACATATATATATATGTATATATATA TA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732136	A A	ATATATAT others(25): Show ATATATATATATACACACATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp1 HG02970.hp2 others(4): Show HG01106.hp2 HG01175.hp1 HG02970.hp2 NA18522.hp1 NA18989.hp2 NA19005.hp1 NA19085.hp1	a0001 a0001	a0001c0007 a0001c0017 a0001c0007 a0001c0017	a0001c0007t0001 a0001c0007t0002 a0001c0017t0001 a0001c0007t0001 a0001c0007t0002 a0001c0017t0001	a0001c0007t0001g0066 a0001c0007t0001g0226 a0001c0007t0001g0228 others(2): Show a0001c0007t0001g0066 a0001c0007t0001g0226 a0001c0007t0001g0228 a0001c0007t0002g0227 a0001c0017t0001g0070	7	430	0.0163	32	c.253 others(47): Show c.253+756_253+757insCACACATATATATATATATGTATATATATA TA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENY2_chr8_109329347_109350954	109349396	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	428	0.0023	32	c.59 others(43): Show c.5915_*5916insATATATATATATATATATATATATATATATAT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding		3443		chr8	TogoVar
EPB41L2_chr6_130834347_131068245	131045318	C C	CATATTTA others(25): Show CATATTTAAATATTCATTTAATATGAATATTTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00609.hp2 others(69): Show HG00423.hp1 HG00544.hp1 HG00609.hp2 HG00673.hp2 HG00741.hp1 HG01081.hp1 HG01123.hp2 HG01496.hp1 HG01515.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02280.hp1 HG02683.hp2 HG02735.hp1 HG02818.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp2 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18963.hp2 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18981.hp2 NA18993.hp1 NA18994.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19081.hp1 NA19083.hp2 NA19086.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0013 others(2): Show a0001c0001 a0001c0002 a0001c0013 a0001c0015 a0007c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0002t0002 a0001c0013t0002 a0001c0015t0002 a0007c0016t0001	a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 others(69): Show a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0340 a0001c0001t0002g0006 a0001c0001t0002g0251 a0001c0001t0002g0255 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0308 a0001c0001t0002g0335 a0001c0001t0002g0346 a0001c0001t0004g0289 a0001c0001t0004g0300 a0001c0001t0011g0288 a0001c0002t0002g0319 a0001c0013t0002g0112 a0001c0015t0002g0309 a0007c0016t0001g0286	72	356	0.2023	32	c.-15 others(51): Show c.-15+17805_-15+17836dupTAAATATTCATATTAAATGAATATTT AAATAT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	131066406	T T	TGTATATG others(25): Show TGTATATGACTTTGTTCTTGGATGGAGGGTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	356	0.0028	32	c.-32 others(43): Show c.-3267_-3266insCCCACCCTCCATCCAAGAACAAAGTCATATAC	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding		3162		chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01255.hp2 HG01257.hp2 others(8): Show HG01074.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01978.hp1 HG01993.hp2 HG02698.hp2 HG03831.hp2 NA19057.hp2 NA19063.hp2	a0001 a0002 a0013 a0001 a0002 a0013	a0001c0001 a0001c0018 a0002c0003 others(2): Show a0001c0001 a0001c0018 a0002c0003 a0002c0022 a0013c0016	a0001c0001t0001 a0001c0001t0003 a0001c0018t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0018t0001 a0002c0003t0003 a0002c0022t0001 a0013c0016t0001	a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0083 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0135 a0001c0001t0003g0081 a0001c0018t0001g0044 a0002c0003t0003g0079 a0002c0022t0001g0082 a0013c0016t0001g0152	11	222	0.0496	32	c.-11 others(51): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA TACACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	222	0.0045	32	c.-11 others(51): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA CACACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112339474	C C	CTAGATAT others(25): Show CTAGATATATAGATATATATCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0002 a0006c0012t0002	a0006c0012t0002g0047 a0006c0012t0002g0047	1	228	0.0044	32	c.100 others(51): Show c.100-31985_100-31984insTATATATATATAGATATATATCTATA TATCTA	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41_chr1_28909569_29125041	28921961	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19085.hp1 HG01934.hp1 NA19085.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0009 a0001c0001 a0004c0009	a0001c0001t0002 a0004c0009t0002 a0001c0001t0002 a0004c0009t0002	a0001c0001t0002g0124 a0004c0009t0002g0125 a0001c0001t0002g0124 a0004c0009t0002g0125	2	312	0.0064	32	c.-8+ others(47): Show c.-8+7194_-8+7195insTATATATATATATATATATATATATATATA CA	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

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