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 per page.

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
ENPP6_chr4_184083706_184222873	184207156	ATATACTG others(33): Show ATATACTGTGGAACAAACTTATTTCAGCATCTGTTCATCTC	A A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0169 a0002c0001t0006g0169	1	320	0.0031	-40	c.241 others(59): Show c.241+10383_241+10422delGAGATGAACAGATGCTGAAATAAGTT TGTTCCACAGTATA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	1/7			chr4	TogoVar
EP300_chr22_41087592_41185077	41167584	GTATATAT others(33): Show GTATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03490.hp1 HG03492.hp1 HG03017.hp2 HG03490.hp1 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0133 a0002c0003t0001g0049 a0002c0003t0001g0050 a0002c0003t0001g0133	3	300	0.0100	-40	c.387 others(57): Show c.3875-852_3875-813delTATATATATATATATATATATATATATA TATATATATATA	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP400_chr12_131944942_132085460	132080746	CACTGGCA others(33): Show CACTGGCACCAGTGTCCTTCCACACCCAGTCTGTGTGCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA19010.hp2 NA18993.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0023 a0001c0003t0002g0024	2	208	0.0096	-40	c.30 others(51): Show c.3074_*3113delACTGGCACCAGTGTCCTTCCACACCCAGTCTGTG TGCCCA	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding		287		chr12	TogoVar
EPHA5_chr4_65314567_65675489	65465520	AAAGAAAG others(33): Show AAAGAAAGAAAAGAAAGGAAAGGAAGGAAAGGAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0135 a0001c0004t0001g0135	1	234	0.0043	-40	c.140 others(61): Show c.1402+24817_1402+24856delCCTTTCCTTCCTTTCCTTCCTTTC CTTTCTTTTCTTTCTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	5/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65574679	CATATATA others(33): Show CATATATATACATATATATACATATATATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0230 a0001c0002t0051g0230	1	234	0.0043	-40	c.910 others(59): Show c.910+26922_910+26961delATATATATATGTATATATATGTATAT ATATGTATATATAT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPN3_chr17_50527735_50548750	50534116	TCCCTTCT others(33): Show TCCCTTCTCTGCGCTTGGGCAGGCTTCTTCCTTTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	350	0.0029	-40	c.-13 others(59): Show c.-137+1134_-137+1173delCTTCTCTGCGCTTGGGCAGGCTTCTT CCTTTCCTCCTCCC	EPN3	ENSG00000049283.19	transcript	ENST00000268933.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPSTI1_chr13_42881388_42997241	42966326	CTAGGAAG others(33): Show CTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATCACATT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00733.hp2 HG01069.hp1 others(48): Show HG00642.hp2 HG00733.hp2 HG01069.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01516.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02129.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02572.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp1 HG03834.hp1 HG04199.hp1 HG04204.hp1 NA18906.hp2 NA18940.hp2 NA18945.hp1 NA18949.hp2 NA18954.hp2 NA18966.hp1 NA18972.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19030.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19091.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(19): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0010 a0001c0002t0011 a0001c0002t0045 a0001c0002t0049 a0001c0002t0052	a0001c0001t0002g0196 a0001c0001t0002g0219 a0001c0001t0002g0278 others(47): Show a0001c0001t0002g0196 a0001c0001t0002g0219 a0001c0001t0002g0278 a0001c0001t0004g0157 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0004g0176 a0001c0001t0006g0296 a0001c0001t0008g0160 a0001c0001t0012g0218 a0001c0001t0012g0249 a0001c0001t0012g0308 a0001c0001t0014g0259 a0001c0001t0014g0273 a0001c0001t0014g0274 a0001c0001t0014g0298 a0001c0001t0015g0270 a0001c0001t0016g0293 a0001c0001t0017g0159 a0001c0001t0017g0174 a0001c0001t0020g0154 a0001c0001t0021g0148 a0001c0001t0021g0155 a0001c0001t0022g0020 a0001c0001t0022g0021 a0001c0001t0024g0339 a0001c0002t0001g0151 a0001c0002t0001g0158 a0001c0002t0001g0175 a0001c0002t0003g0238 a0001c0002t0003g0269 a0001c0002t0003g0272 a0001c0002t0003g0275 a0001c0002t0003g0277 a0001c0002t0005g0149 a0001c0002t0005g0181 a0001c0002t0007g0001 a0001c0002t0007g0236 a0001c0002t0007g0267 a0001c0002t0007g0271 a0001c0002t0007g0276 a0001c0002t0010g0261 a0001c0002t0010g0268 a0001c0002t0011g0009 a0001c0002t0011g0022 a0001c0002t0011g0147 a0001c0002t0011g0156 a0001c0002t0045g0294 a0001c0002t0049g0248 a0001c0002t0052g0222	51	352	0.1449	-40	c.332 others(57): Show c.332-2227_332-2188delAATGTGATGGCGGCTGGGAAGAGGCGCT CCTCACTTCCTA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10			chr13	TogoVar
ERAP1_chr5_96769484_96812945	96808187	CGTGTGTG others(33): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 NA19030.hp2 NA19240.hp2 HG02976.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0010 a0001c0015t0010	a0001c0015t0010g0269 a0001c0015t0010g0270 a0001c0015t0010g0271 a0001c0015t0010g0269 a0001c0015t0010g0270 a0001c0015t0010g0271	3	416	0.0072	-40	c.-38 others(49): Show c.-385_-346delACACACACACACACACACACACACACACACACACAC ACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERBB4_chr2_211370717_212543802	211622988	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG03579.hp1 others(1): Show HG02258.hp2 HG02717.hp1 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 others(1): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0028	a0001c0001t0007g0018 a0001c0001t0009g0046 a0001c0001t0017g0029 others(1): Show a0001c0001t0007g0018 a0001c0001t0009g0046 a0001c0001t0017g0029 a0001c0001t0028g0053	4	56	0.0714	-40	c.220 others(57): Show c.2202+894_2202+933delATATATATATATATATATATATATATAT ATATATATATTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	18/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015041	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0055 a0001c0001t0027g0055	1	56	0.0179	-40	c.235 others(59): Show c.235-67465_235-67426delATATATATATATATATATATATATAT ATATATATATATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1121640	GATCTCTA others(33): Show GATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03654.hp2 HG00544.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0124 a0001c0001t0013 a0001c0001t0124	a0001c0001t0013g0015 a0001c0001t0124g0050 a0001c0001t0013g0015 a0001c0001t0124g0050	2	162	0.0124	-40	c.156 others(59): Show c.1569+5636_1569+5675delCTATCTCTATCTATCTCTATCTCTAT CTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122589	ATCTCTAT others(33): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTGTGTCTC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01261.hp1 others(11): Show HG00323.hp2 HG00639.hp1 HG01261.hp1 HG01496.hp1 HG01891.hp1 HG01993.hp2 HG02280.hp2 HG02615.hp1 HG02622.hp2 HG02970.hp1 HG03209.hp2 HG03516.hp1 NA19090.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0019 a0001c0001t0020 others(11): Show a0001c0001t0004 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0001t0031 a0001c0001t0071 a0001c0001t0074 a0001c0001t0130 a0001c0001t0132 a0002c0002t0047 a0002c0002t0060 a0002c0002t0127	a0001c0001t0004g0075 a0001c0001t0019g0120 a0001c0001t0020g0113 others(11): Show a0001c0001t0004g0075 a0001c0001t0019g0120 a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0024g0112 a0001c0001t0029g0160 a0001c0001t0031g0118 a0001c0001t0071g0074 a0001c0001t0074g0039 a0001c0001t0130g0102 a0001c0001t0132g0103 a0002c0002t0047g0104 a0002c0002t0060g0040 a0002c0002t0127g0155	14	162	0.0864	-40	c.156 others(59): Show c.1569+6558_1569+6597delCTCTATCTGTGTCTCTATCTCTATCT CTATCTGTGTCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1138171	GTATATAA others(33): Show GTATATAATATATATCATATATAATTATATATGATATATAT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0066 a0001c0001t0045g0066	1	162	0.0062	-40	c.157 others(59): Show c.1570-3431_1570-3392delATATAATTATATATGATATATATTAT ATAATATATATCAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196905	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01358.hp2 others(16): Show HG01109.hp1 HG01109.hp2 HG01358.hp2 HG01517.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02809.hp1 HG02896.hp2 HG03225.hp1 HG03669.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0138 a0002c0002t0001 others(14): Show a0001c0001t0008 a0001c0001t0138 a0002c0002t0001 a0002c0002t0006 a0002c0002t0026 a0002c0002t0039 a0002c0002t0070 a0002c0002t0075 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0085 a0002c0002t0115 a0002c0002t0129 a0002c0002t0139 a0002c0002t0140	a0001c0001t0008g0086 a0001c0001t0138g0095 a0002c0002t0001g0149 others(16): Show a0001c0001t0008g0086 a0001c0001t0138g0095 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0026g0115 a0002c0002t0039g0151 a0002c0002t0070g0138 a0002c0002t0075g0073 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0080g0127 a0002c0002t0081g0123 a0002c0002t0085g0142 a0002c0002t0115g0049 a0002c0002t0129g0106 a0002c0002t0139g0096 a0002c0002t0140g0108	19	162	0.1173	-40	c.235 others(59): Show c.2351+6871_2351+6910delCACACACACACACACACACACACACA CACACACACACACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1243353	AAGATACT others(33): Show AAGATACTGAGGTGCTATGTAGGGATGTAATGAAACGTGAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp1 HG01358.hp2 others(21): Show HG01109.hp1 HG01257.hp1 HG01358.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02970.hp2 HG03195.hp2 HG03225.hp1 HG03669.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0008 a0001c0001t0058 others(19): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0058 a0001c0001t0074 a0001c0001t0138 a0002c0002t0001 a0002c0002t0006 a0002c0002t0037 a0002c0002t0039 a0002c0002t0064 a0002c0002t0070 a0002c0002t0075 a0002c0002t0078 a0002c0002t0079 a0002c0002t0080 a0002c0002t0081 a0002c0002t0085 a0002c0002t0115 a0002c0002t0129 a0002c0002t0135 a0002c0002t0139 a0002c0002t0140	a0001c0001t0005g0041 a0001c0001t0008g0086 a0001c0001t0058g0141 others(21): Show a0001c0001t0005g0041 a0001c0001t0008g0086 a0001c0001t0058g0141 a0001c0001t0074g0039 a0001c0001t0138g0095 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0006g0122 a0002c0002t0006g0125 a0002c0002t0037g0042 a0002c0002t0039g0151 a0002c0002t0064g0069 a0002c0002t0070g0138 a0002c0002t0075g0073 a0002c0002t0078g0128 a0002c0002t0079g0124 a0002c0002t0080g0127 a0002c0002t0081g0123 a0002c0002t0085g0142 a0002c0002t0115g0049 a0002c0002t0129g0106 a0002c0002t0135g0093 a0002c0002t0139g0096 a0002c0002t0140g0108	24	162	0.1482	-40	c.248 others(59): Show c.2487+6542_2487+6581delGCTATGTAGGGATGTAATGAAACGTG AGAGATACTGAGGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55720203	TTCTTCTT others(33): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp1 HG03098.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0007 a0001c0001t0007g0024 a0001c0001t0001g0007 a0001c0001t0007g0024	2	74	0.0270	-40	c.271 others(61): Show c.2712+14528_2712+14567delGAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERCC6_chr10_49449470_49544121	49507920	AGATATAT others(33): Show AGATATATATACACTTTCCTGATACACATATCTGAATTCTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(25): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0024 a0025 a0026 a0027 a0028 a0029 a0030	a0001c0001 a0001c0004 a0001c0005 others(36): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009 a0001c0029 a0001c0030 a0001c0038 a0001c0040 a0002c0002 a0002c0007 a0002c0012 a0002c0025 a0003c0003 a0004c0006 a0004c0023 a0005c0008 a0006c0010 a0008c0014 a0009c0013 a0010c0017 a0011c0015 a0012c0018 a0013c0019 a0014c0016 a0015c0022 a0016c0028 a0017c0020 a0018c0024 a0019c0021 a0020c0031 a0021c0026 a0022c0039 a0024c0033 a0025c0032 a0026c0041 a0027c0035 a0028c0034 a0029c0036 a0030c0037	a0001c0001t0002 a0001c0001t0019 a0001c0001t0023 others(61): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0023 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0004t0001 a0001c0005t0003 a0001c0005t0025 a0001c0005t0026 a0001c0009t0002 a0001c0009t0035 a0001c0029t0001 a0001c0030t0031 a0001c0038t0002 a0001c0040t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0009 a0002c0002t0012 a0002c0002t0015 a0002c0002t0017 a0002c0002t0020 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0040 a0002c0007t0004 a0002c0007t0021 a0002c0012t0001 a0002c0012t0014 a0002c0025t0014 a0003c0003t0001 a0004c0006t0001 a0004c0006t0010 a0004c0023t0010 a0005c0008t0001 a0005c0008t0029 a0006c0010t0008 a0008c0014t0003 a0009c0013t0013 a0010c0017t0003 a0010c0017t0024 a0011c0015t0004 a0012c0018t0002 a0013c0019t0002 a0014c0016t0018 a0015c0022t0004 a0016c0028t0001 a0017c0020t0005 a0018c0024t0001 a0019c0021t0012 a0020c0031t0002 a0021c0026t0030 a0022c0039t0002 a0024c0033t0003 a0025c0032t0016 a0026c0041t0002 a0027c0035t0001 a0028c0034t0001 a0029c0036t0016 a0030c0037t0003	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(312): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0173 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0019g0217 a0001c0001t0019g0220 a0001c0001t0023g0206 a0001c0001t0032g0228 a0001c0001t0033g0172 a0001c0001t0034g0176 a0001c0001t0036g0233 a0001c0004t0001g0015 a0001c0004t0001g0016 a0001c0004t0001g0140 a0001c0004t0001g0143 a0001c0004t0001g0144 a0001c0004t0001g0145 a0001c0004t0001g0146 a0001c0004t0001g0147 a0001c0004t0001g0148 a0001c0004t0001g0149 a0001c0004t0001g0150 a0001c0004t0001g0151 a0001c0004t0001g0153 a0001c0004t0001g0157 a0001c0005t0003g0003 a0001c0005t0003g0027 a0001c0005t0003g0029 a0001c0005t0003g0256 a0001c0005t0003g0257 a0001c0005t0003g0260 a0001c0005t0003g0267 a0001c0005t0003g0268 a0001c0005t0003g0269 a0001c0005t0003g0270 a0001c0005t0003g0271 a0001c0005t0003g0272 a0001c0005t0003g0273 a0001c0005t0003g0274 a0001c0005t0003g0275 a0001c0005t0003g0276 a0001c0005t0003g0278 a0001c0005t0003g0279 a0001c0005t0003g0280 a0001c0005t0003g0281 a0001c0005t0003g0284 a0001c0005t0003g0285 a0001c0005t0003g0286 a0001c0005t0003g0288 a0001c0005t0003g0289 a0001c0005t0003g0290 a0001c0005t0003g0291 a0001c0005t0003g0292 a0001c0005t0003g0293 a0001c0005t0003g0294 a0001c0005t0003g0295 a0001c0005t0003g0297 a0001c0005t0003g0298 a0001c0005t0003g0299 a0001c0005t0003g0332 a0001c0005t0025g0156 a0001c0005t0026g0092 a0001c0009t0002g0017 a0001c0009t0002g0159 a0001c0009t0002g0164 a0001c0009t0002g0167 a0001c0009t0002g0189 a0001c0009t0002g0320 a0001c0009t0035g0193 a0001c0029t0001g0152 a0001c0030t0031g0175 a0001c0038t0002g0184 a0001c0040t0002g0245 a0002c0002t0004g0007 a0002c0002t0004g0008 a0002c0002t0004g0039 a0002c0002t0004g0040 a0002c0002t0004g0041 a0002c0002t0004g0042 a0002c0002t0004g0043 a0002c0002t0004g0044 a0002c0002t0004g0048 a0002c0002t0004g0049 a0002c0002t0004g0051 a0002c0002t0004g0053 a0002c0002t0004g0054 a0002c0002t0004g0057 a0002c0002t0004g0058 a0002c0002t0004g0059 a0002c0002t0004g0074 a0002c0002t0004g0075 a0002c0002t0004g0079 a0002c0002t0004g0082 a0002c0002t0004g0086 a0002c0002t0004g0087 a0002c0002t0004g0089 a0002c0002t0005g0036 a0002c0002t0005g0045 a0002c0002t0005g0046 a0002c0002t0005g0047 a0002c0002t0005g0050 a0002c0002t0005g0052 a0002c0002t0005g0076 a0002c0002t0005g0078 a0002c0002t0005g0080 a0002c0002t0005g0083 a0002c0002t0005g0084 a0002c0002t0005g0085 a0002c0002t0005g0088 a0002c0002t0006g0333 a0002c0002t0006g0334 a0002c0002t0006g0336 a0002c0002t0006g0337 a0002c0002t0006g0338 a0002c0002t0006g0340 a0002c0002t0006g0341 a0002c0002t0006g0343 a0002c0002t0009g0012 a0002c0002t0009g0204 a0002c0002t0009g0326 a0002c0002t0009g0328 a0002c0002t0012g0161 a0002c0002t0012g0162 a0002c0002t0015g0055 a0002c0002t0015g0056 a0002c0002t0017g0120 a0002c0002t0017g0327 a0002c0002t0020g0081 a0002c0002t0037g0342 a0002c0002t0038g0339 a0002c0002t0039g0335 a0002c0002t0040g0344 a0002c0007t0004g0009 a0002c0007t0004g0061 a0002c0007t0004g0063 a0002c0007t0004g0064 a0002c0007t0004g0065 a0002c0007t0004g0066 a0002c0007t0004g0068 a0002c0007t0004g0069 a0002c0007t0004g0070 a0002c0007t0004g0071 a0002c0007t0004g0072 a0002c0007t0004g0073 a0002c0007t0004g0077 a0002c0007t0021g0067 a0002c0012t0001g0113 a0002c0012t0014g0323 a0002c0012t0014g0325 a0002c0025t0014g0324 a0003c0003t0001g0002 a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0013 a0003c0003t0001g0026 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0003c0003t0001g0108 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0112 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0135 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0142 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0266 a0003c0003t0001g0277 a0003c0003t0001g0283 a0004c0006t0001g0022 a0004c0006t0001g0023 a0004c0006t0001g0030 a0004c0006t0001g0031 a0004c0006t0001g0032 a0004c0006t0001g0033 a0004c0006t0001g0236 a0004c0006t0001g0301 a0004c0006t0001g0302 a0004c0006t0001g0303 a0004c0006t0001g0304 a0004c0006t0001g0305 a0004c0006t0001g0306 a0004c0006t0001g0307 a0004c0006t0001g0308 a0004c0006t0001g0310 a0004c0006t0001g0311 a0004c0006t0001g0312 a0004c0006t0001g0313 a0004c0006t0001g0314 a0004c0006t0001g0315 a0004c0006t0001g0316 a0004c0006t0001g0318 a0004c0006t0001g0319 a0004c0006t0001g0321 a0004c0006t0010g0006 a0004c0006t0010g0317 a0004c0023t0010g0309 a0005c0008t0001g0014 a0005c0008t0001g0128 a0005c0008t0001g0129 a0005c0008t0001g0130 a0005c0008t0001g0131 a0005c0008t0001g0132 a0005c0008t0001g0133 a0005c0008t0001g0134 a0005c0008t0001g0141 a0005c0008t0029g0139 a0006c0010t0008g0114 a0006c0010t0008g0115 a0006c0010t0008g0117 a0006c0010t0008g0118 a0006c0010t0008g0119 a0006c0010t0008g0154 a0008c0014t0003g0028 a0008c0014t0003g0282 a0009c0013t0013g0034 a0009c0013t0013g0329 a0010c0017t0003g0258 a0010c0017t0024g0259 a0011c0015t0004g0037 a0011c0015t0004g0038 a0012c0018t0002g0224 a0012c0018t0002g0225 a0013c0019t0002g0214 a0013c0019t0002g0219 a0014c0016t0018g0035 a0015c0022t0004g0062 a0016c0028t0001g0091 a0017c0020t0005g0060 a0018c0024t0001g0322 a0019c0021t0012g0205 a0020c0031t0002g0215 a0021c0026t0030g0330 a0022c0039t0002g0185 a0024c0033t0003g0296 a0025c0032t0016g0155 a0026c0041t0002g0174 a0027c0035t0001g0265 a0028c0034t0001g0121 a0029c0036t0016g0093 a0030c0037t0003g0287	357	388	0.9201	-40	c.139 others(59): Show c.1398-1948_1398-1909delAAGAATTCAGATATGTGTATCAGGAA AGTGTATATATATC	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	5/20			chr10	TogoVar
ERFL_chr19_41902704_41933449	41914819	TGTCTCCC others(33): Show TGTCTCCCCCCCTTTCCACCGTCTCTGTCTCTCCCCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA18945.hp1 HG01952.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0244 a0001c0001t0003g0231 a0001c0001t0003g0244	2	330	0.0061	-40	c.-13 others(57): Show c.-13-1927_-13-1888delGAGGGGGGGAGAGACAGAGACGGTGGAA AGGGGGGGAGAC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERG_chr21_38375036_38503477	38429515	ATACATGT others(33): Show ATACATGTATGCACATGTACATATATACATATGTGTATATG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19043.hp1 NA20129.hp1 HG02572.hp1 NA19043.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0350 a0001c0001t0011g0205 a0001c0001t0011g0320 a0001c0001t0002g0350 a0001c0001t0011g0205 a0001c0001t0011g0320	3	360	0.0083	-40	c.237 others(57): Show c.237-5994_237-5955delCATATACACATATGTATATATGTACATG TGCATACATGTA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	2/9			chr21	TogoVar
ERI3_chr1_44216070_44360257	44342821	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	340	0.0029	-40	c.212 others(57): Show c.212-3539_212-3500delAAAATATATATATATATATATATATATA TATATATATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH5_chr8_98059568_98098609	98073476	ATATATAT others(33): Show ATATATATATGTATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18998.hp1 HG03130.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0002g0257 a0001c0001t0001g0037 a0001c0001t0002g0257	2	442	0.0045	-40	c.58+ others(55): Show c.58+8759_58+8798delGTATATATATATATATATATATATATATAT GTATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERO1B_chr1_236210101_236286958	236245524	GTGTATAT others(33): Show GTGTATATATATGTGTGTATGTATGTGTGTGTATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA19075.hp1 HG03225.hp2 NA19075.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0007c0011t0071 a0001c0001t0001 a0007c0011t0071	a0001c0001t0001g0087 a0007c0011t0071g0016 a0001c0001t0001g0087 a0007c0011t0071g0016	2	396	0.0051	-40	c.432 others(57): Show c.432-2069_432-2030delTATATATATACACACACATACATACACA CATATATATACA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERV3-1_chr7_64985356_65011687	64989443	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	458	0.0022	-40	c.17 others(51): Show c.1729_*1768delTATATATATATATATATATATATATATATATATA TATATA	ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding		912		chr7	TogoVar
ESCO1_chr18_21524284_21605704	21592719	TGGCTGCC others(33): Show TGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	310	0.0032	-40	c.-82 others(59): Show c.-825+7864_-825+7903delGCCCCGTCTGAGAAGTGAGGAGCCCC TCCGCCCGGCAGCC	ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11			chr18	TogoVar
ESCO1_chr18_21524284_21605704	21593008	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18940.hp1 HG02273.hp2 NA18940.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0141 a0002c0002t0001g0278 a0001c0001t0001g0141 a0002c0002t0001g0278	2	310	0.0065	-40	c.-82 others(59): Show c.-825+7575_-825+7614delCCTCTTCCCGGCCGCCATCCCATCTA GGAAGTGAGGAGCG	ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding	1/11			chr18	TogoVar
ESF1_chr20_13709325_13789919	13760524	ACCCCGTC others(33): Show ACCCCGTCTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCG	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0163 a0002c0003t0001g0163	1	390	0.0026	-40	c.166 others(57): Show c.1667-711_1667-672delCGGCTGCCGGGCGGAGGGGCTCCTCACT TCTCAGACGGGG	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	8/13			chr20	TogoVar
ESRRG_chr1_216498251_216728429	216658848	AAGAAGAG others(33): Show AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0026 a0001c0003t0004g0026	1	286	0.0035	-40	c.473 others(57): Show c.473-7799_473-7760delCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTCT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	2/6			chr1	TogoVar
ETS2_chr21_38800929_38829955	38816002	GGAAGGAA others(33): Show GGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00438.hp2 others(37): Show HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00673.hp2 HG00735.hp1 HG01074.hp1 HG01261.hp2 HG01981.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp2 HG02083.hp2 HG02155.hp2 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02922.hp1 HG02976.hp1 HG03834.hp2 NA18612.hp1 NA18941.hp2 NA18947.hp1 NA18953.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp2 NA18980.hp1 NA18983.hp1 NA18987.hp2 NA19012.hp1 NA19043.hp1 NA19058.hp2 NA19065.hp1 NA19074.hp1 NA19077.hp2 NA19087.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 others(28): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0167 a0001c0001t0001g0209 a0001c0001t0001g0221 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0001t0003g0058 a0001c0002t0002g0202 a0001c0002t0002g0204 a0001c0002t0002g0273 a0001c0002t0002g0282 a0001c0002t0003g0223 a0001c0002t0004g0052 a0001c0002t0004g0314 a0001c0002t0005g0329 a0001c0002t0005g0338 a0001c0007t0001g0003	40	426	0.0939	-40	c.506 others(56): Show c.506-1003_506-964delAGGAAGGAGGGAGGGAGGGAAGGAAGGAA GGAAAGAAAGA	ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr21	TogoVar
EXOC2_chr6_480154_698139	601282	GTGCGAAT others(33): Show GTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG02257.hp2 others(1): Show HG01109.hp2 HG02257.hp1 HG02257.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0003 a0001c0001t0002 a0001c0007t0003	a0001c0001t0002g0189 a0001c0001t0002g0197 a0001c0001t0002g0227 others(1): Show a0001c0001t0002g0189 a0001c0001t0002g0197 a0001c0001t0002g0227 a0001c0007t0003g0171	4	272	0.0147	-40	c.743 others(57): Show c.743-2097_743-2058delGACGGGGTGTTCTTGGTGTGAGAATGTG TGTGGATTCGCA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	602242	GTGCGAAT others(33): Show GTGCGAATCCACACACATTCTCACACCAAGAACACCCCGTC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG02723.hp1 others(2): Show HG02559.hp2 HG02717.hp1 HG02723.hp1 HG04199.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0027 a0001c0007t0002	a0001c0001t0003g0217 a0001c0001t0005g0024 a0001c0001t0007g0212 others(2): Show a0001c0001t0003g0217 a0001c0001t0005g0024 a0001c0001t0007g0212 a0001c0001t0027g0272 a0001c0007t0002g0196	5	272	0.0184	-40	c.743 others(57): Show c.743-3057_743-3018delGACGGGGTGTTCTTGGTGTGAGAATGTG TGTGGATTCGCA	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC2_chr6_480154_698139	602406	GAATCCAC others(33): Show GAATCCACACACATTCTCACACCAAGAACACCCCGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp1 HG02451.hp2 others(9): Show HG01081.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp1 HG04199.hp2 NA18522.hp2 NA18973.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0025 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0007t0002 a0001c0007t0003	a0001c0001t0001g0131 a0001c0001t0002g0188 a0001c0001t0002g0197 others(9): Show a0001c0001t0001g0131 a0001c0001t0002g0188 a0001c0001t0002g0197 a0001c0001t0003g0217 a0001c0001t0005g0024 a0001c0001t0007g0212 a0001c0001t0025g0216 a0001c0001t0027g0272 a0001c0002t0001g0253 a0001c0002t0002g0231 a0001c0007t0002g0196 a0001c0007t0003g0171	12	272	0.0441	-40	c.743 others(57): Show c.743-3221_743-3182delTGCACACGGGGTGTTCTTGGTGTGAGAA TGTGTGTGGATT	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	7/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133823872	TTATATAT others(33): Show TTATATATATATATATATATATTTTATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02559.hp2 NA18983.hp1 HG01943.hp2 HG02559.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0008 a0001c0001 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0004t0001 a0001c0008t0015 a0001c0001t0001 a0001c0004t0001 a0001c0008t0015	a0001c0001t0001g0033 a0001c0004t0001g0062 a0001c0008t0015g0078 a0001c0001t0001g0033 a0001c0004t0001g0062 a0001c0008t0015g0078	3	102	0.0294	-40	c.173 others(59): Show c.1734+6329_1734+6368delTATATATATATATATATATATTTTAT ATATATATATATAA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17			chr7	TogoVar
EXOC4_chr7_133248078_134070761	133857285	ATATATAT others(33): Show ATATATATATATACACGTATATATATATATATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19043.hp2 HG02055.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0075 a0001c0001t0001g0077	2	102	0.0196	-40	c.173 others(61): Show c.1735-38301_1735-38262delCACGTATATATATATATATATATA CACGTATATATATATA	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC4_chr7_133248078_134070761	133950445	ACATCTTC others(33): Show ACATCTTCTGTCATTGGGAACTCTCTCCTTAGGCCTCAGGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03041.hp1 HG03098.hp1 HG01099.hp2 HG03041.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0100 a0001c0001t0003g0057 a0001c0001t0006g0059 a0001c0001t0002g0100 a0001c0001t0003g0057 a0001c0001t0006g0059	3	102	0.0294	-40	c.220 others(61): Show c.2206+12417_2206+12456delCATCTTCTGTCATTGGGAACTCTC TCCTTAGGCCTCAGGG	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
EXOC6B_chr2_72170984_72831033	72512327	GGAAGGAA others(33): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02486.hp1 HG03139.hp2 others(2): Show HG01256.hp1 HG02486.hp1 HG03139.hp2 HG03516.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0002 a0001c0003t0001 a0001c0001t0003 a0001c0002t0002 a0001c0003t0001	a0001c0001t0003g0053 a0001c0002t0002g0065 a0001c0002t0002g0066 others(2): Show a0001c0001t0003g0053 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0003t0001g0085 a0001c0003t0001g0093	5	104	0.0481	-40	c.116 others(57): Show c.1167+765_1167+804delTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	11/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72631453	TATATATA others(33): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 NA20905.hp2 HG01123.hp1 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0015 a0001c0003t0001 a0001c0003t0015	a0001c0003t0001g0085 a0001c0003t0015g0099 a0001c0003t0001g0085 a0001c0003t0015g0099	2	104	0.0192	-40	c.670 others(59): Show c.670-55825_670-55786delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTATATATAT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	6/21			chr2	TogoVar
EXOG_chr3_38491340_38531303	38492731	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	412	0.0024	-40	c.-36 others(51): Show c.-3636_-3597delACACACACACACACACACACACACACACACACAC ACACAC	EXOG	ENSG00000157036.13	transcript	ENST00000287675.10	protein_coding		3608		chr3	TogoVar
EXT1_chr8_117789490_118116826	117858840	GGAAGGAA others(33): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0186 a0001c0003t0017g0186	1	190	0.0053	-40	c.963 others(59): Show c.963-21679_963-21640delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCCTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EXT1_chr8_117789490_118116826	117858844	GGAAAGAA others(33): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02970.hp1 HG02976.hp2 others(2): Show HG02723.hp1 HG02970.hp1 HG02976.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0012 a0001c0003t0025 a0001c0003t0062 others(1): Show a0001c0001t0012 a0001c0003t0025 a0001c0003t0062 a0001c0003t0070	a0001c0001t0012g0175 a0001c0003t0025g0183 a0001c0003t0025g0184 others(2): Show a0001c0001t0012g0175 a0001c0003t0025g0183 a0001c0003t0025g0184 a0001c0003t0062g0166 a0001c0003t0070g0185	5	190	0.0263	-40	c.963 others(59): Show c.963-21683_963-21644delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	EXT1	ENSG00000182197.13	transcript	ENST00000378204.7	protein_coding	1/10			chr8	TogoVar
EYA2_chr20_46889843_47193844	46987954	CTCTCTCT others(33): Show CTCTCTCTCTCTATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01884.hp1 HG02109.hp2 others(5): Show HG01358.hp1 HG01884.hp1 HG02109.hp2 HG02257.hp1 HG02895.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0007 a0001c0001 a0001c0002 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0003c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0148 a0001c0001t0001g0173 others(5): Show a0001c0001t0001g0020 a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0001t0001g0237 a0001c0001t0003g0022 a0001c0002t0001g0073 a0001c0002t0001g0109 a0003c0007t0001g0007	8	238	0.0336	-40	c.-10 others(57): Show c.-10-2045_-10-2006delCTCTCTCTCTATATATATATATATATAT ATATATATATAT	EYA2	ENSG00000064655.19	transcript	ENST00000327619.10	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
EYS_chr6_63714980_65712226	65317809	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0019 a0003c0002t0002g0019	1	24	0.0417	-40	c.176 others(61): Show c.1766+17131_1766+17170delAAAGAAAGAAAGAAAGAAAGAAAG GAAGGAAGGAAGGAAG	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	11/42			chr6	TogoVar
EZR_chr6_158760748_158824368	158803542	TATGTATA others(33): Show TATGTATATATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01993.hp1 HG02273.hp2 others(1): Show HG01934.hp1 HG01993.hp1 HG02273.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083	4	312	0.0128	-40	c.13- others(57): Show c.13-14211_13-14172delGTATATATATATATATATATATATATAT ATATATATACAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
F13A1_chr6_6139084_6325662	6316078	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA19003.hp1 NA19065.hp2 HG01496.hp2 NA19003.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0032 a0001c0001t0001g0059 a0001c0001t0007g0263 a0001c0001t0001g0032 a0001c0001t0001g0059 a0001c0001t0007g0263	3	292	0.0103	-40	c.130 others(57): Show c.130+2417_130+2456delATATATATATATATATATATATATATAT ATATATATATAT	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	2/14			chr6	TogoVar
FAAP100_chr17_81534891_81557353	81542195	AAAAAAAT others(33): Show AAAAAAATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	436	0.0023	-40	c.242 others(57): Show c.2428-840_2428-801delCATATATATATATATATATATATATATA TATATATTTTTT	FAAP100	ENSG00000185504.17	transcript	ENST00000327787.13	protein_coding	7/8			chr17	TogoVar
FAM107A_chr3_58559117_58582391	58574024	CGCTTGGG others(33): Show CGCTTGGGGCTGGCTACCAGGGCTGCCACATACAACAGGCT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0299 a0002c0002t0001g0299	1	438	0.0023	-40	c.-6+ others(55): Show c.-6+3245_-6+3284delAGCCTGTTGTATGTGGCAGCCCTGGTAGCC AGCCCCAAGC	FAM107A	ENSG00000168309.18	transcript	ENST00000360997.7	protein_coding	1/3			chr3	TogoVar
FAM110A_chr20_828715_851277	844397	CTCCCTTT others(33): Show CTCCCTTTAGCGCGTGCCTTGCCCTGTCTTTTCTGCTCAGG	C C	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0024 a0004c0008t0024	a0004c0008t0024g0129 a0004c0008t0024g0129	1	436	0.0023	-40	c.-97 others(55): Show c.-97-309_-97-270delCCCTTTAGCGCGTGCCTTGCCCTGTCTTTT CTGCTCAGGT	FAM110A	ENSG00000125898.13	transcript	ENST00000381941.8	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr20	TogoVar
FAM135B_chr8_138125023_138502261	138425964	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01952.hp2 others(3): Show HG01515.hp2 HG01517.hp1 HG01952.hp2 HG02615.hp1 HG03239.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0002c0002 a0003c0001 a0001c0006 a0002c0002 a0003c0001	a0001c0006t0015 a0002c0002t0001 a0003c0001t0007 others(1): Show a0001c0006t0015 a0002c0002t0001 a0003c0001t0007 a0003c0001t0030	a0001c0006t0015g0114 a0002c0002t0001g0007 a0002c0002t0001g0008 others(3): Show a0001c0006t0015g0114 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0036 a0003c0001t0007g0037 a0003c0001t0030g0125	6	212	0.0283	-40	c.-19 others(59): Show c.-19-58002_-19-57963delATATATATATATATATATATATATAT ATATATATATATAT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	1/19			chr8	TogoVar
FAM135B_chr8_138125023_138502261	138425980	TATATATA others(33): Show TATATATATATATATATATATATATATATATATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp1 NA18906.hp2 HG02559.hp2 HG02723.hp1 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0010 a0001c0005 a0001c0006 a0001c0010	a0001c0005t0002 a0001c0006t0005 a0001c0010t0034 a0001c0005t0002 a0001c0006t0005 a0001c0010t0034	a0001c0005t0002g0141 a0001c0006t0005g0211 a0001c0010t0034g0163 a0001c0005t0002g0141 a0001c0006t0005g0211 a0001c0010t0034g0163	3	212	0.0142	-40	c.-19 others(59): Show c.-19-58018_-19-57979delGTGTGTGTATATATATATATATATAT ATATATATATATAT	FAM135B	ENSG00000147724.12	transcript	ENST00000395297.6	protein_coding	1/19			chr8	TogoVar
FAM161A_chr2_61819848_61859060	61848926	TTATATAT others(33): Show TTATATATATATATTTATATATATTTATATATATATTTATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0118 a0001c0001t0017g0118	1	400	0.0025	-40	c.183 others(57): Show c.183+4893_183+4932delTATAAATATATATATAAATATATATAAA TATATATATATA	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FAM168A_chr11_73395487_73603112	73572031	AGAAGTGA others(33): Show AGAAGTGAGGAGCCCCTCCGCCCGGCAGCCACCCCGTCTGG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0028 a0001c0003t0028	a0001c0003t0028g0064 a0001c0003t0028g0064	1	180	0.0056	-40	c.-19 others(59): Show c.-19+25852_-19+25891delCCAGACGGGGTGGCTGCCGGGCGGAG GGGCTCCTCACTTC	FAM168A	ENSG00000054965.11	transcript	ENST00000356467.5	protein_coding	1/7			chr11	TogoVar

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Search Results (Total: 3176 hits)