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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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	cds cds pos length	aa aa pos length	distance	status	chr	external
ELAPOR1_chr1_109109115_109211781	109113392	CAGAGAGA others(21): Show CAGAGAGAGAGAGAGAGAGAGAGAAAGAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01074.hp1 HG01106.hp1 others(4): Show HG01070.hp2 HG01074.hp1 HG01106.hp1 HG01346.hp2 HG01993.hp1 HG02273.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0047 others(4): Show a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041	7	230	0.0304	-28	c.-79 others(37): Show c.-791_-764delAGAGAGAGAGAGAGAGAGAGAGAAAGAG		ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding				722		chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86905070	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03453.hp1 HG01167.hp1 HG03453.hp1	a0001 a0008 a0001 a0008	a0001c0003 a0008c0010 a0001c0003 a0008c0010	a0001c0003t0004 a0008c0010t0004 a0001c0003t0004 a0008c0010t0004	a0001c0003t0004g0006 a0008c0010t0004g0176 a0001c0003t0004g0006 a0008c0010t0004g0176	2	196	0.0102	-28	c.255 others(47): Show c.2558+2572_2558+2599delCTTCCTTCCTTCCTTCCTTCCTTCCT TC		ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	18/21					chr7	TogoVar
ELAVL1_chr19_7953573_8010641	7961303	GCCTTCCA others(21): Show GCCTTCCATCAGAAGGGTGTTGGCTCCCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00642.hp1 others(42): Show HG00280.hp1 HG00408.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01928.hp2 HG01975.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02083.hp1 HG02135.hp1 HG02273.hp1 HG02300.hp1 HG02523.hp2 HG02622.hp1 HG02717.hp2 HG02922.hp1 HG03130.hp2 HG03453.hp2 HG03516.hp2 HG03688.hp2 NA18747.hp1 NA18943.hp2 NA18945.hp2 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18980.hp2 NA19009.hp1 NA19065.hp2 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0031 a0001c0002t0005 others(5): Show a0001c0001t0003 a0001c0001t0031 a0001c0002t0005 a0001c0002t0011 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029	a0001c0001t0003g0001 a0001c0001t0003g0015 a0001c0001t0003g0072 others(31): Show a0001c0001t0003g0001 a0001c0001t0003g0015 a0001c0001t0003g0072 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0082 a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0101 a0001c0001t0003g0105 a0001c0001t0003g0133 a0001c0001t0003g0136 a0001c0001t0003g0153 a0001c0001t0031g0073 a0001c0002t0005g0016 a0001c0002t0005g0017 a0001c0002t0005g0018 a0001c0002t0005g0206 a0001c0002t0005g0207 a0001c0002t0005g0208 a0001c0002t0005g0212 a0001c0002t0005g0214 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0005g0217 a0001c0002t0005g0218 a0001c0002t0011g0024 a0001c0002t0011g0025 a0001c0002t0011g0026 a0001c0002t0011g0027 a0001c0002t0026g0209 a0001c0002t0027g0204 a0001c0002t0028g0205 a0001c0002t0029g0213	45	276	0.1630	-28	c.21 others(39): Show c.2152_*2179delTGGGAGCCAACACCCTTCTGATGGAAGG		ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding	6/6			2152		chr19	TogoVar
ELF2_chr4_139052265_139182218	139151032	AAAAGAAA others(21): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02040.hp1 HG02056.hp2 others(12): Show HG00438.hp2 HG02040.hp1 HG02056.hp2 HG02109.hp2 HG02257.hp2 HG02723.hp1 HG02965.hp1 HG03540.hp2 NA18941.hp2 NA18942.hp2 NA18950.hp1 NA18971.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 others(12): Show a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0198 a0002c0002t0002g0205 a0002c0002t0002g0334 a0002c0002t0004g0110 a0002c0002t0004g0120 a0002c0002t0004g0123	15	342	0.0439	-28	c.-25 others(49): Show c.-251-11563_-251-11536delCTTTCTTTCTTTCTTTCTTTCTTT CTTT		ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9					chr4	TogoVar
ELFN2_chr22_37362960_37432479	37397803	CCGGGCTG others(21): Show CCGGGCTGGGCATTTTACAGGCGTTCTGG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0204 a0001c0001t0027g0204	1	334	0.0030	-28	c.-46 others(49): Show c.-463+19938_-463+19965delCCAGAACGCCTGTAAAATGCCCAG CCCG		ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2					chr22	TogoVar
ELL2_chr5_95880098_95966851	95927548	TACACACA others(21): Show TACACACACACGTGTGTATATAGACATAC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	314	0.0032	-28	c.196 others(45): Show c.196-8031_196-8004delGTATGTCTATATACACACGTGTGTGTGT		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11					chr5	TogoVar
ELL2_chr5_95880098_95966851	95927574	TACACACA others(21): Show TACACACACACGTGTGTATATAGACATAC	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	314	0.0032	-28	c.196 others(45): Show c.196-8057_196-8030delGTATGTCTATATACACACGTGTGTGTGT		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11					chr5	TogoVar
ELL_chr19_18437663_18527070	18509591	GCGCACAT others(21): Show GCGCACATACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	244	0.0041	-28	c.135 others(47): Show c.135+12302_135+12329delTGTGTGTGTGTGTGTGTGTGTATGTG CG		ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11					chr19	TogoVar
ELL_chr19_18437663_18527070	18509593	GCACATAC others(21): Show GCACATACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02896.hp1 HG02257.hp2 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0007 a0002c0002t0001 a0001c0005t0007 a0002c0002t0001	a0001c0005t0007g0176 a0002c0002t0001g0140 a0001c0005t0007g0176 a0002c0002t0001g0140	2	244	0.0082	-28	c.135 others(47): Show c.135+12300_135+12327delTGTGTGTGTGTGTGTGTGTGTGTATG TG		ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11					chr19	TogoVar
ELMO1_chr7_36847906_37453864	36953839	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0003 a0001c0004t0002g0003	1	92	0.0109	-28	c.143 others(49): Show c.1438-58850_1438-58823delCACACACACACACACACACACACA CACA		ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21					chr7	TogoVar
ELMOD1_chr11_107586147_107671779	107590332	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00621.hp2 others(58): Show HG00099.hp2 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG02015.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02717.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA18940.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18960.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18992.hp2 NA18999.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19081.hp2 NA19085.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0021 a0001c0001t0025 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0002t0012 a0001c0002t0019 a0001c0002t0030 a0001c0002t0034 a0002c0003t0001 a0004c0004t0023	a0001c0001t0001g0004 a0001c0001t0001g0139 a0001c0001t0001g0146 others(57): Show a0001c0001t0001g0004 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0056 a0001c0001t0002g0147 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0171 a0001c0001t0002g0178 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0263 a0001c0001t0003g0153 a0001c0001t0003g0162 a0001c0001t0003g0188 a0001c0001t0003g0201 a0001c0001t0005g0164 a0001c0001t0005g0165 a0001c0001t0005g0167 a0001c0001t0005g0196 a0001c0001t0008g0157 a0001c0001t0008g0160 a0001c0001t0008g0180 a0001c0001t0008g0192 a0001c0001t0008g0198 a0001c0001t0010g0140 a0001c0001t0013g0177 a0001c0001t0021g0161 a0001c0001t0025g0143 a0001c0002t0002g0110 a0001c0002t0004g0277 a0001c0002t0005g0145 a0001c0002t0006g0152 a0001c0002t0006g0155 a0001c0002t0006g0175 a0001c0002t0006g0194 a0001c0002t0007g0183 a0001c0002t0007g0189 a0001c0002t0009g0144 a0001c0002t0009g0264 a0001c0002t0009g0265 a0001c0002t0011g0181 a0001c0002t0011g0182 a0001c0002t0012g0142 a0001c0002t0019g0318 a0001c0002t0030g0151 a0001c0002t0034g0163 a0002c0003t0001g0190 a0004c0004t0023g0179	61	342	0.1784	-28	c.-11 others(39): Show c.-1162_-1135delTCTCTCTCTCTCTCTCTCTCTCTCTCTC		ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding				814		chr11	TogoVar
ELMOD1_chr11_107586147_107671779	107665962	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0272 a0001c0002t0018g0272	1	342	0.0029	-28	c.79 others(37): Show c.793_*820delTAAATAAATAAATAAATAAATAAATAAA		ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	12/12			793	INFO_REALIGN_3_PRIME	chr11	TogoVar
ELMOD2_chr4_140519168_140558770	140548873	TATATGAT others(21): Show TATATGATAAACTGCACATATTATATGAC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	370	0.0027	-28	c.737 others(45): Show c.737-1335_737-1308delATATGACATATGATAAACTGCACATATT		ELMOD2	ENSG00000179387.10	transcript	ENST00000323570.8	protein_coding	8/8				INFO_REALIGN_3_PRIME	chr4	TogoVar
ELOF1_chr19_11548046_11564230	11553582	TACACACA others(21): Show TACACACACACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02148.hp2 HG03834.hp2 HG02148.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0036 a0001c0001t0032g0036	2	412	0.0049	-28	c.13 others(37): Show c.136_*163delGTGTGTGTGTGTGTGTGTGTGTGTGTGT		ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding	4/4			136		chr19	TogoVar
ELP3_chr8_28088139_28196153	28119572	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02155.hp2 HG02976.hp1 others(3): Show HG01167.hp1 HG02155.hp2 HG02976.hp1 NA18612.hp2 NA18944.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010	a0001c0001t0003g0028 a0001c0001t0004g0262 a0001c0001t0004g0263 others(3): Show a0001c0001t0003g0028 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0010g0362 a0001c0001t0010g0363	6	398	0.0151	-28	c.617 others(45): Show c.617+6429_617+6456delATATATATATATATATATATATATATAT		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP3_chr8_28088139_28196153	28138404	TCTCATTT others(21): Show TCTCATTTACAATCAGGAACCTTATCTAC	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	398	0.0025	-28	c.110 others(45): Show c.1100+516_1100+543delCATTTACAATCAGGAACCTTATCTACCT		ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	10/14				INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP4_chr11_31504767_31795324	31794420	CCACACAC others(21): Show CCACACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0050 a0001c0001t0027g0050	1	270	0.0037	-28	c.10 others(41): Show c.10897_*10924delCACACACACACACACACACACACACACA		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding				4097		chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48016456	TTTTCTTT others(21): Show TTTTCTTTCCTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01243.hp2 HG02109.hp2 others(15): Show HG00280.hp2 HG01243.hp2 HG02109.hp2 HG02148.hp2 HG02258.hp2 HG02559.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03453.hp1 HG03491.hp1 NA18906.hp1 NA18940.hp2 NA18988.hp1 NA19064.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0010 a0015	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005 a0010c0011 a0015c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0002c0002t0001 a0004c0004t0001 a0005c0005t0003 a0010c0011t0001 a0015c0016t0002	a0001c0001t0001g0113 a0001c0001t0001g0262 a0001c0001t0001g0302 others(15): Show a0001c0001t0001g0113 a0001c0001t0001g0262 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0002g0134 a0001c0001t0002g0145 a0001c0001t0002g0192 a0001c0001t0002g0223 a0001c0001t0011g0239 a0002c0002t0001g0003 a0004c0004t0001g0072 a0005c0005t0003g0283 a0010c0011t0001g0251 a0010c0011t0001g0316 a0015c0016t0002g0146	18	388	0.0464	-28	c.355 others(43): Show c.355+426_355+453delCTTCTTTCTTTCTTTCTTTCTTTCTTTC		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6				INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016503	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0076 a0002c0002t0001g0063 a0002c0002t0001g0076	2	388	0.0052	-28	c.355 others(43): Show c.355+468_355+495delTCTTTCTTTCTTTCTTTCTTTCTTCCTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6				INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016507	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02055.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0090 a0001c0001t0002g0121 a0001c0001t0001g0090 a0001c0001t0002g0121	2	388	0.0052	-28	c.355 others(43): Show c.355+472_355+499delTCTTTCTTTCTTTCTTTCTTCCTTCCTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6				INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016511	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTTCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0379 a0003c0007t0001g0379	1	388	0.0026	-28	c.355 others(43): Show c.355+476_355+503delTCTTTCTTTCTTTCTTCCTTCCTTCCTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6				INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016515	TCTTTCTT others(21): Show TCTTTCTTTCTTTCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03239.hp1 HG03540.hp2 others(2): Show HG01433.hp1 HG03239.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp1	a0003 a0009 a0003 a0009	a0003c0003 a0003c0007 a0009c0012 a0003c0003 a0003c0007 a0009c0012	a0003c0003t0001 a0003c0003t0002 a0003c0007t0001 others(1): Show a0003c0003t0001 a0003c0003t0002 a0003c0007t0001 a0009c0012t0001	a0003c0003t0001g0338 a0003c0003t0002g0151 a0003c0007t0001g0008 others(2): Show a0003c0003t0001g0338 a0003c0003t0002g0151 a0003c0007t0001g0008 a0003c0007t0001g0353 a0009c0012t0001g0315	5	388	0.0129	-28	c.355 others(43): Show c.355+480_355+507delTCTTTCTTTCTTCCTTCCTTCCTTCCTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6				INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016519	TCTTTCTT others(21): Show TCTTTCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03710.hp1 NA18940.hp1 others(6): Show HG00738.hp2 HG03710.hp1 NA18940.hp1 NA18957.hp1 NA18968.hp2 NA19009.hp1 NA19066.hp2 NA19080.hp1 NA20905.hp1	a0003 a0006 a0003 a0006	a0003c0003 a0006c0014 a0003c0003 a0006c0014	a0003c0003t0001 a0003c0003t0002 a0006c0014t0002 a0003c0003t0001 a0003c0003t0002 a0006c0014t0002	a0003c0003t0001g0031 a0003c0003t0001g0106 a0003c0003t0001g0339 others(6): Show a0003c0003t0001g0031 a0003c0003t0001g0106 a0003c0003t0001g0339 a0003c0003t0001g0387 a0003c0003t0002g0166 a0003c0003t0002g0177 a0003c0003t0002g0204 a0003c0003t0002g0238 a0006c0014t0002g0185	9	388	0.0232	-28	c.355 others(43): Show c.355+484_355+511delTCTTTCTTCCTTCCTTCCTTCCTTCCTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6				INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC10_chr19_50471507_50495871	50472243	TTATATAT others(21): Show TTATATATACATGTATGTGTGTATATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	352	0.0028	-28	c.-43 others(39): Show c.-4301_-4274delTATATATACATGTATGTGTGTATATATG		EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding				4263		chr19	TogoVar
EMCN_chr4_100390341_100523022	100459168	GCTCTCTC others(21): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG03927.hp1 HG01975.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0013 a0001c0001t0029g0159 a0001c0001t0002g0013 a0001c0001t0029g0159	2	262	0.0076	-28	c.376 others(45): Show c.376+6227_376+6254delAGAGAGAGAGAGAGAGAGAGAGAGAGAG		EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11					chr4	TogoVar
EMID1_chr22_29200896_29264597	29221066	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0226 a0003c0003t0001g0226	1	348	0.0029	-28	c.320 others(45): Show c.320-4036_320-4009delGTGTGTGTGTGTGTGTGTGTGTGTGTGT		EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	3/14				INFO_REALIGN_3_PRIME	chr22	TogoVar
EMILIN2_chr18_2842006_2921003	2858573	GTGTGTGT others(21): Show GTGTGTGTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0185 a0001c0001t0005g0185	1	452	0.0022	-28	c.257 others(47): Show c.257+10648_257+10675delGTGTGTATATATATATATATATATGT GT		EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7				INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2906766	TCCCCGAC others(21): Show TCCCCGACGCCCGGCAGAGGCGCCCTCGC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01123.hp1 HG03669.hp1 NA18945.hp2 others(4): Show HG01123.hp1 HG03669.hp1 NA18945.hp2 NA18950.hp2 NA18966.hp1 NA19065.hp2 NA19066.hp2	a0004 a0004	a0004c0011 a0004c0039 a0004c0043 a0004c0011 a0004c0039 a0004c0043	a0004c0011t0002 a0004c0011t0003 a0004c0039t0063 others(1): Show a0004c0011t0002 a0004c0011t0003 a0004c0039t0063 a0004c0043t0003	a0004c0011t0002g0184 a0004c0011t0003g0148 a0004c0011t0003g0287 others(4): Show a0004c0011t0002g0184 a0004c0011t0003g0148 a0004c0011t0003g0287 a0004c0011t0003g0329 a0004c0011t0003g0397 a0004c0039t0063g0017 a0004c0043t0003g0164	7	452	0.0155	-28	c.236 others(40): Show c.2360-11_2376delACGCCCGGCAGAGGCGCCCTCGCCCCCG	p.Lys others(5): Show p.Lys787fs	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	5/8	2360/3162	787/1053		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99919398	CCACACAC others(21): Show CCACACACACACATACGCATGCACACAGA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01175.hp1 HG01943.hp1 others(2): Show HG00438.hp1 HG01175.hp1 HG01943.hp1 HG02040.hp1 NA19074.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0003 a0003c0002t0001 a0003c0002t0003	a0003c0002t0001g0053 a0003c0002t0001g0192 a0003c0002t0001g0209 others(2): Show a0003c0002t0001g0053 a0003c0002t0001g0192 a0003c0002t0001g0209 a0003c0002t0001g0262 a0003c0002t0003g0230	5	288	0.0174	-28	c.182 others(47): Show c.1821-1378_1821-1351delTACGCATGCACACAGACACACACACA CA		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	16/21				INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42244073	TGTTTTTT others(21): Show TGTTTTTTGTTTTTTGTTTTTGTTTTTTG	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	358	0.0028	-28	c.26- others(43): Show c.26-1431_26-1404delGTTTTTTGTTTTTTGTTTTTGTTTTTTG		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22					chr2	TogoVar
EML4_chr2_42164353_42337548	42325596	TTATATTT others(21): Show TTATATTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	358	0.0028	-28	c.224 others(43): Show c.2242+48_2242+75delTTATATATATATATATATATATATATAT		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22				INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88796660	TATATTAT others(21): Show TATATTATATATATTATGTATATTATATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	332	0.0030	-28	c.-41 others(39): Show c.-4185_-4158delCATATAATATACATAATATATATAATAT		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding				3708		chr14	TogoVar
EML6_chr2_54718662_54977025	54907930	AGATAGAT others(21): Show AGATAGATAGATAGATAAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01433.hp1 HG02698.hp2 others(6): Show HG01070.hp2 HG01433.hp1 HG02698.hp2 HG02738.hp1 HG03239.hp2 HG03704.hp2 HG04115.hp1 NA18963.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0009 a0001c0010t0004	a0001c0003t0001g0261 a0001c0003t0002g0193 a0001c0003t0002g0204 others(6): Show a0001c0003t0001g0261 a0001c0003t0002g0193 a0001c0003t0002g0204 a0001c0003t0002g0253 a0001c0003t0002g0254 a0001c0003t0002g0257 a0001c0003t0009g0097 a0001c0003t0009g0111 a0001c0010t0004g0260	9	264	0.0341	-28	c.341 others(47): Show c.3410-3023_3410-2996delGATAGATAGATAGATAAGATAGATAG AT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41					chr2	TogoVar
EMP3_chr19_48320552_48335553	48334416	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	-28	c.39 others(39): Show c.3947_*3974delTCTTTCTTTCTTTCTTTCTTTCTTTCTT		EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding				3864		chr19	TogoVar
EMSY_chr11_76440018_76558031	76494649	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01167.hp1 others(29): Show HG00639.hp2 HG00733.hp1 HG01167.hp1 HG01192.hp1 HG01361.hp1 HG01361.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02717.hp2 HG02976.hp1 HG03209.hp2 HG03540.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 NA18522.hp2 NA18747.hp2 NA18964.hp1 NA18970.hp1 NA18974.hp2 NA18993.hp1 NA19030.hp1 NA19062.hp1 NA19079.hp1 NA19079.hp2 NA19084.hp2 NA19086.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0004c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0020 a0001c0003t0001 a0001c0004t0003 a0004c0007t0002	a0001c0001t0002g0004 a0001c0001t0002g0104 a0001c0001t0002g0160 others(29): Show a0001c0001t0002g0004 a0001c0001t0002g0104 a0001c0001t0002g0160 a0001c0001t0002g0165 a0001c0001t0002g0194 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0254 a0001c0001t0002g0257 a0001c0001t0003g0083 a0001c0001t0003g0112 a0001c0001t0003g0184 a0001c0001t0003g0200 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0235 a0001c0001t0003g0241 a0001c0001t0003g0321 a0001c0001t0005g0110 a0001c0001t0005g0111 a0001c0001t0006g0012 a0001c0001t0008g0188 a0001c0001t0012g0218 a0001c0001t0020g0240 a0001c0003t0001g0253 a0001c0004t0003g0199 a0004c0007t0002g0121	32	360	0.0889	-28	c.115 others(47): Show c.1154-1505_1154-1478delCCTTCCTTCCTTCCTTCCTTCCTTCC TT		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21				INFO_REALIGN_3_PRIME	chr11	TogoVar
ENAH_chr1_225481829_225658123	225520922	AAGGGAGG others(21): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00438.hp1 others(55): Show HG00099.hp1 HG00140.hp1 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01981.hp2 HG02040.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02293.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp2 HG02735.hp2 HG02965.hp2 HG03130.hp1 HG03195.hp1 HG03516.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp1 NA18906.hp2 NA18963.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18986.hp2 NA18988.hp2 NA18991.hp2 NA18992.hp1 NA18995.hp1 NA19002.hp2 NA19009.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19076.hp2 NA19077.hp2 NA19081.hp1 NA19084.hp2 NA19090.hp2 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0008c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0024 a0001c0001t0045 a0001c0001t0052 a0001c0001t0063 a0002c0002t0001 a0004c0005t0024 a0004c0005t0031 a0004c0005t0064 a0008c0007t0061	a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0082 others(55): Show a0001c0001t0001g0018 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0172 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0005g0124 a0001c0001t0005g0130 a0001c0001t0005g0140 a0001c0001t0005g0155 a0001c0001t0005g0222 a0001c0001t0006g0120 a0001c0001t0006g0121 a0001c0001t0006g0145 a0001c0001t0006g0156 a0001c0001t0006g0213 a0001c0001t0006g0216 a0001c0001t0006g0265 a0001c0001t0007g0014 a0001c0001t0007g0148 a0001c0001t0007g0217 a0001c0001t0007g0219 a0001c0001t0007g0221 a0001c0001t0007g0228 a0001c0001t0012g0149 a0001c0001t0012g0220 a0001c0001t0024g0218 a0001c0001t0045g0209 a0001c0001t0052g0097 a0001c0001t0063g0147 a0002c0002t0001g0076 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0132 a0002c0002t0001g0136 a0004c0005t0024g0272 a0004c0005t0031g0215 a0004c0005t0064g0210 a0008c0007t0061g0116	58	308	0.1883	-28	c.435 others(45): Show c.435-1385_435-1358delCCCTCCCTCCCTCCCTCCCTCCCTCCCT		ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	4/13					chr1	TogoVar
ENDOD1_chr11_95084846_95137645	95113614	GCATATGT others(21): Show GCATATGTATGTACCACATTTTCTTTATT	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02897.hp1 others(4): Show HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03195.hp2 HG03453.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0002c0002t0002	a0001c0001t0002g0184 a0001c0001t0004g0025 a0001c0001t0007g0017 others(2): Show a0001c0001t0002g0184 a0001c0001t0004g0025 a0001c0001t0007g0017 a0002c0002t0002g0046 a0002c0002t0002g0205	7	368	0.0190	-28	c.301 others(47): Show c.301-14759_301-14732delATGTATGTACCACATTTTCTTTATTC AT		ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding	1/1				INFO_REALIGN_3_PRIME	chr11	TogoVar
ENKUR_chr10_24976985_25021158	24988664	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	384	0.0026	-28	c.594 others(45): Show c.594+1771_594+1798delTATATATATATATATATATATATATATA		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	4/5					chr10	TogoVar
ENOSF1_chr18_665318_717630	667273	GGTGATGG others(21): Show GGTGATGGGATGGTGATGGAGATGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0148 a0001c0006t0004g0148	1	418	0.0024	-28	c.70 others(39): Show c.7004_*7031delATCACCATCTCCATCACCATCCCATCAC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding				3044		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43417193	AGGGAGAC others(21): Show AGGGAGACGGGAGACGGGAGACGGGAGAC	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02622.hp1 others(6): Show HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02922.hp1 HG03139.hp2 HG03471.hp1 HG03831.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0003t0011 a0001c0003t0013	a0001c0001t0003g0055 a0001c0001t0003g0097 a0001c0001t0004g0003 others(6): Show a0001c0001t0003g0055 a0001c0001t0003g0097 a0001c0001t0004g0003 a0001c0001t0005g0140 a0001c0001t0015g0004 a0001c0003t0011g0163 a0001c0003t0011g0171 a0001c0003t0013g0093 a0001c0003t0013g0095	9	188	0.0479	-28	c.-74 others(45): Show c.-74-4233_-74-4206delGTCTCCCGTCTCCCGTCTCCCGTCTCCC		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16					chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790583	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	188	0.0053	-28	c.-42 others(39): Show c.-4244_-4217delTTTTTTTTTTTTTTTTTTTTTTTTTTTT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding				3612		chr13	TogoVar
ENOX2_chrX_130617325_130908209	130617502	TTTTCTTT others(21): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	154	0.0065	-28	c.77 others(39): Show c.7784_*7811delGAAAGAAAGAAAGAAAGAAAGAAAGAAA		ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding				4822		chrX	TogoVar
ENPP1_chr6_131803020_131900155	131896227	AACACACA others(21): Show AACACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00673.hp2 others(32): Show HG00609.hp1 HG00609.hp2 HG00673.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01891.hp1 HG01952.hp1 HG02056.hp1 HG02145.hp1 HG02155.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02976.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03516.hp1 HG04184.hp2 NA18941.hp2 NA18942.hp1 NA18955.hp1 NA18995.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19065.hp1 NA19066.hp1 NA19240.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0023 a0012c0014	a0001c0001t0004 a0001c0001t0033 a0001c0001t0058 others(17): Show a0001c0001t0004 a0001c0001t0033 a0001c0001t0058 a0001c0001t0074 a0001c0001t0076 a0002c0002t0004 a0002c0002t0006 a0002c0002t0015 a0002c0002t0020 a0002c0002t0021 a0002c0002t0022 a0002c0002t0033 a0002c0002t0044 a0002c0002t0066 a0002c0002t0077 a0002c0002t0079 a0002c0004t0039 a0002c0004t0040 a0002c0023t0060 a0012c0014t0004	a0001c0001t0004g0008 a0001c0001t0004g0017 a0001c0001t0033g0016 others(32): Show a0001c0001t0004g0008 a0001c0001t0004g0017 a0001c0001t0033g0016 a0001c0001t0058g0035 a0001c0001t0074g0141 a0001c0001t0076g0176 a0002c0002t0004g0009 a0002c0002t0004g0049 a0002c0002t0004g0058 a0002c0002t0004g0060 a0002c0002t0004g0068 a0002c0002t0004g0092 a0002c0002t0004g0096 a0002c0002t0004g0228 a0002c0002t0004g0235 a0002c0002t0004g0259 a0002c0002t0004g0273 a0002c0002t0006g0044 a0002c0002t0015g0113 a0002c0002t0020g0285 a0002c0002t0020g0287 a0002c0002t0020g0288 a0002c0002t0021g0111 a0002c0002t0021g0112 a0002c0002t0022g0046 a0002c0002t0022g0081 a0002c0002t0033g0075 a0002c0002t0044g0116 a0002c0002t0066g0215 a0002c0002t0077g0072 a0002c0002t0079g0210 a0002c0004t0039g0225 a0002c0004t0040g0289 a0002c0023t0060g0020 a0012c0014t0004g0074	35	292	0.1199	-28	c.57 others(39): Show c.5717_*5744delACACACACACACACACACACACACACAC		ENPP1	ENSG00000197594.14	transcript	ENST00000647893.1	protein_coding				1073		chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678907	CTCTTTCT others(21): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	278	0.0036	-28	c.101 others(46): Show c.1011+994_1011+1021delTTTCTTTCTTTCTTTCTTTCTTTCTTT C		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24				INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678938	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	278	0.0036	-28	c.101 others(47): Show c.1011+1002_1011+1029delTTTCTTTCTTTCTTTCTTTCCTTCCT TC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24				INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678946	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	278	0.0036	-28	c.101 others(47): Show c.1011+1010_1011+1037delTTTCTTTCTTTCCTTCCTTCCTTCCT TC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24				INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131679010	CTTCCTTC others(21): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	278	0.0036	-28	c.101 others(47): Show c.1011+1074_1011+1101delCTTCCTTCCTTCCTTCTTTCTTTCTT TC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24				INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP7_chr17_79725943_79747219	79746195	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0162 a0002c0001t0001g0162	1	430	0.0023	-28	c.44 others(39): Show c.4419_*4446delAAAAAAAAAAAAAAAAAAAAAAAAAAAA		ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding				3977		chr17	TogoVar
ENTHD1_chr22_39738044_39898760	39890099	AAAATAAA others(21): Show AAAATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	218	0.0046	-28	c.-15 others(47): Show c.-155-2224_-155-2197delATTTATTTATTTATTTATTTATTTAT TT		ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	1/6					chr22	TogoVar
ENTREP2_chr15_29115252_29575979	29306664	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03098.hp2 HG02258.hp2 HG03098.hp2	a0002 a0003 a0002 a0003	a0002c0009 a0003c0023 a0002c0009 a0003c0023	a0002c0009t0003 a0003c0023t0022 a0002c0009t0003 a0003c0023t0022	a0002c0009t0003g0044 a0003c0023t0022g0030 a0002c0009t0003g0044 a0003c0023t0022g0030	2	125	0.0160	-28	c.277 others(47): Show c.277-54214_277-54187delAAAAAAAAAAAAAAAAAAAAAAAAAA AA		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10					chr15	TogoVar

Search by Variant

Search

Search Results (Total: 7045 hits)