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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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
HELZ_chr17_67065444_67250196	67125286	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18998.hp2 NA18971.hp1 NA18998.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0126 a0001c0003t0002g0127	2	274	0.0073	-32	c.338 others(51): Show c.3388-1304_3388-1273delTATATATATATATATATATATATATA TATATA	HELZ	ENSG00000198265.12	transcript	ENST00000358691.10	protein_coding	24/32			chr17	TogoVar
HEPHL1_chr11_94016354_94119208	94060092	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02896.hp1 HG02897.hp2 others(3): Show HG02280.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp2 HG03471.hp1 HG03579.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0029 a0005c0008 a0001c0001 a0001c0029 a0005c0008	a0001c0001t0002 a0001c0029t0010 a0005c0008t0010 a0001c0001t0002 a0001c0029t0010 a0005c0008t0010	a0001c0001t0002g0172 a0001c0001t0002g0226 a0001c0001t0002g0227 others(3): Show a0001c0001t0002g0172 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0029t0010g0052 a0005c0008t0010g0053 a0005c0008t0010g0054	6	368	0.0163	-32	c.416 others(49): Show c.416-3389_416-3358delTATATATATATATATATATATATATATA TATA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HEPHL1_chr11_94016354_94119208	94115572	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01884.hp2 HG02486.hp2 others(5): Show HG01255.hp1 HG01884.hp2 HG02486.hp2 HG02896.hp1 HG02897.hp2 HG03195.hp2 NA18940.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0019 a0002c0002t0003	a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0259 others(5): Show a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0259 a0001c0001t0002g0283 a0001c0001t0003g0164 a0001c0001t0003g0277 a0001c0001t0019g0262 a0002c0002t0003g0167	8	368	0.0217	-32	c.36 others(43): Show c.3679_*3710delATATATATATATATATATATATATATATATAT	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding		1365		chr11	TogoVar
HERC1_chr15_63603618_63838948	63744134	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	216	0.0046	-32	c.252 others(51): Show c.2520+2752_2520+2783delGACACACACACACACACACACACACA CACACA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63744136	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG02976.hp2 others(9): Show HG02145.hp1 HG02630.hp1 HG02976.hp2 HG03209.hp1 HG03540.hp1 NA18944.hp1 NA18954.hp1 NA18961.hp2 NA18981.hp1 NA18991.hp2 NA19003.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0148 a0001c0001t0001g0166 a0001c0001t0001g0168 others(9): Show a0001c0001t0001g0148 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0188 a0001c0008t0001g0143 a0001c0008t0001g0144 a0001c0008t0001g0145 a0001c0008t0001g0146 a0001c0008t0001g0147 a0001c0008t0001g0160 a0001c0008t0001g0161	12	216	0.0556	-32	c.252 others(51): Show c.2520+2750_2520+2781delGAGACACACACACACACACACACACA CACACA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	12/77			chr15	TogoVar
HERC2_chr15_28106040_28327179	28301733	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0207 a0001c0003t0001g0207	1	250	0.0040	-32	c.73- others(47): Show c.73-2249_73-2218delTATATATATATATATATATATATATATATA CA	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	2/92			chr15	TogoVar
HERC4_chr10_67916905_68080283	67927379	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00673.hp2 HG02135.hp1 others(8): Show HG00621.hp2 HG00673.hp2 HG02135.hp1 NA18942.hp2 NA18952.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp1 NA18975.hp2 NA18999.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0105 others(8): Show a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132	11	360	0.0306	-32	c.283 others(51): Show c.2839-2224_2839-2193delATATATATATATATATATATATATAT ATATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	23/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059873	AATAATAT others(25): Show AATAATATTATATATCATAATATTATATATTAT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	360	0.0028	-32	c.226 others(51): Show c.226+12978_226+13009delATAATATATAATATTATGATATATAA TATTAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC6_chr4_88373852_88448097	88443026	CCTGTGGA others(25): Show CCTGTGGAATGTACTTTCACTTTTGCTGCTTCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG03195.hp2 NA18906.hp2 HG02559.hp2 HG03195.hp2 NA18906.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0002 a0008c0010t0002	a0008c0010t0002g0006 a0008c0010t0002g0099 a0008c0010t0002g0100 a0008c0010t0002g0006 a0008c0010t0002g0099 a0008c0010t0002g0100	3	174	0.0172	-32	c.57 others(41): Show c.570_*601delTGGAATGTACTTTCACTTTTGCTGCTTCACTG	HERC6	ENSG00000138642.16	transcript	ENST00000264346.12	protein_coding	23/23	570	INFO_REALIGN_3_PRIME	chr4	TogoVar
HERPUD2_chr7_35627659_35700135	35631778	AATTATAT others(25): Show AATTATATATAAATATATAAATTATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01081.hp1 HG01106.hp2 others(16): Show HG00642.hp2 HG01081.hp1 HG01106.hp2 HG01256.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG02257.hp2 HG02735.hp2 HG02970.hp2 HG03491.hp1 HG03704.hp2 HG03834.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0012 a0002c0002t0002 a0002c0002t0012	a0002c0002t0002g0287 a0002c0002t0002g0353 a0002c0002t0002g0366 others(16): Show a0002c0002t0002g0287 a0002c0002t0002g0353 a0002c0002t0002g0366 a0002c0002t0002g0374 a0002c0002t0002g0375 a0002c0002t0002g0376 a0002c0002t0002g0377 a0002c0002t0002g0378 a0002c0002t0002g0380 a0002c0002t0002g0381 a0002c0002t0002g0382 a0002c0002t0002g0383 a0002c0002t0002g0384 a0002c0002t0002g0385 a0002c0002t0002g0386 a0002c0002t0002g0387 a0002c0002t0002g0388 a0002c0002t0002g0389 a0002c0002t0012g0302	19	392	0.0485	-32	c.18 others(43): Show c.1880_*1911delATATATATATAATTTATATATTTATATATAAT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding		880		chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35631910	TATATAAT others(25): Show TATATAATATATAAATATATAAATTATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0136 a0001c0001t0007g0136	1	392	0.0026	-32	c.17 others(43): Show c.1748_*1779delTTATATATAATTTATATATTTATATATTATAT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding		748		chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35674404	TAGAGAGA others(25): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0151 a0001c0001t0008g0151	1	392	0.0026	-32	c.148 others(49): Show c.148-1158_148-1127delCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HERPUD2_chr7_35627659_35700135	35682294	TGTGTGTA others(25): Show TGTGTGTATATATAGATATATACACATACACAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	392	0.0026	-32	c.148 others(49): Show c.148-9048_148-9017delGTGTGTATGTGTATATATCTATATATAC ACAC	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding	2/8			chr7	TogoVar
HFM1_chr1_91255766_91409837	91404732	ACTTCCCC others(25): Show ACTTCCCCGCGGGCGTCGGGCCCCCGTCCCCAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01361.hp2 HG01981.hp1 HG00639.hp1 HG01361.hp2 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359	3	362	0.0083	-32	c.-28 others(45): Show c.-28+34_-28+65delGTGGGGACGGGGGCCCGACGCCCGCGGGGAAG	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	1/38			chr1	TogoVar
HGSNAT_chr8_43135464_43207855	43181110	GGAGAGGG others(25): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	234	0.0043	-32	c.101 others(51): Show c.1013-1031_1013-1000delAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43181122	GGAGAGGG others(25): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02976.hp2 HG01167.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0157 a0001c0001t0002g0065 a0001c0001t0001g0157 a0001c0001t0002g0065	2	234	0.0086	-32	c.101 others(50): Show c.1013-1019_1013-988delAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43181128	GGAGAGGG others(25): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01928.hp2 HG02004.hp2 others(3): Show HG01346.hp2 HG01928.hp2 HG02004.hp2 HG03704.hp2 HG04184.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0098 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0159	6	234	0.0256	-32	c.101 others(50): Show c.1013-1013_1013-982delAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HGSNAT_chr8_43135464_43207855	43181134	GGAGAGGG others(25): Show GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	234	0.0043	-32	c.101 others(50): Show c.1013-1007_1013-976delAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAG	HGSNAT	ENSG00000165102.15	transcript	ENST00000379644.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr8	TogoVar
HHAT_chr1_210323902_210681290	210428286	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01257.hp2 HG02056.hp2 others(15): Show HG01070.hp1 HG01257.hp2 HG02056.hp2 HG02074.hp2 HG02559.hp2 HG02717.hp2 HG03130.hp1 HG03516.hp2 HG03540.hp2 NA18949.hp2 NA18955.hp2 NA18961.hp2 NA18985.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012	a0001c0001t0001g0221 a0001c0001t0003g0083 a0001c0001t0005g0213 others(15): Show a0001c0001t0001g0221 a0001c0001t0003g0083 a0001c0001t0005g0213 a0001c0001t0006g0084 a0001c0001t0006g0197 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0062 a0001c0002t0002g0021 a0001c0002t0002g0033 a0001c0002t0002g0038 a0001c0002t0003g0043 a0001c0002t0003g0061 a0001c0002t0003g0101 a0001c0002t0003g0245 a0001c0002t0005g0035 a0001c0002t0006g0042 a0001c0002t0012g0123	18	268	0.0672	-32	c.856 others(50): Show c.856+9990_856+10021delTATATATATATATATATATATATATAT ATATA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHIPL1_chr14_99640129_99685569	99656836	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00642.hp1 others(15): Show HG00544.hp2 HG00621.hp2 HG00642.hp1 HG01175.hp1 HG01361.hp2 HG02056.hp1 HG02273.hp1 HG02683.hp2 HG03041.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03831.hp1 NA18943.hp1 NA18969.hp1 NA19066.hp2 NA19067.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0002t0003 a0001c0002t0033 others(4): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0033 a0001c0003t0002 a0001c0003t0003 a0002c0001t0001 a0002c0001t0010	a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0049 others(15): Show a0001c0002t0002g0016 a0001c0002t0002g0020 a0001c0002t0002g0049 a0001c0002t0002g0065 a0001c0002t0003g0029 a0001c0002t0003g0030 a0001c0002t0003g0070 a0001c0002t0033g0018 a0001c0003t0002g0125 a0001c0003t0002g0142 a0001c0003t0002g0147 a0001c0003t0003g0124 a0002c0001t0001g0042 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0079 a0002c0001t0010g0062 a0002c0001t0010g0063	18	374	0.0481	-32	c.903 others(47): Show c.903-135_903-104delAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GG	HHIPL1	ENSG00000182218.10	transcript	ENST00000330710.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr14	TogoVar
HHIPL2_chr1_222517264_222553104	222538195	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0321 a0004c0006t0001g0321	1	418	0.0024	-32	c.157 others(49): Show c.1577+421_1577+452delACACACACACACACACACACACACACAC ACAC	HHIPL2	ENSG00000143512.13	transcript	ENST00000343410.7	protein_coding	5/8			chr1	TogoVar
HHLA1_chr8_132056480_132116157	132100621	TCATTCAA others(25): Show TCATTCAACAAATATTCACTGAGGGCCAAGCTA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	380	0.0026	-32	c.140 others(47): Show c.140-519_140-488delTAGCTTGGCCCTCAGTGAATATTTGTTGAA TG	HHLA1	ENSG00000132297.13	transcript	ENST00000414222.2	protein_coding	3/16			chr8	TogoVar
HIBADH_chr7_27520442_27667883	27613147	TTTTATAT others(25): Show TTTTATATAAATATATATATTTATATAAATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(271): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(271): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0003g0001 a0001c0001t0003g0031 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0141 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0182 a0001c0001t0004g0161 a0001c0001t0006g0083 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0257 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0293 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0311 a0001c0002t0001g0312 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0005g0285 a0001c0002t0007g0317 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0263 a0001c0003t0001g0274 a0001c0003t0001g0307 a0001c0003t0001g0313 a0001c0005t0001g0036 a0001c0005t0001g0037	274	326	0.8405	-32	c.484 others(51): Show c.484+16192_484+16223delTATATTTATATAAATATATATATTTA TATAAA	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	4/7			chr7	TogoVar
HID1_chr17_74945742_74977759	74976723	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0170 a0001c0007t0001g0170	1	364	0.0028	-32	c.-40 others(43): Show c.-4099_-4068delATATATATATATATTTTTTTTTTTTTTTTTTT	HID1	ENSG00000167861.16	transcript	ENST00000425042.7	protein_coding		3965		chr17	TogoVar
HIKESHI_chr11_86297240_86350943	86307728	GTATACAT others(25): Show GTATACATTATATAAAATATATATTATGTGTAA	G G	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	398	0.0025	-32	c.268 others(49): Show c.268+1326_268+1357delATATATATTATGTGTAATATACATTATA TAAA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINT3_chr6_125951770_125985244	125962161	CACATATA others(25): Show CACATATATATATATATATATATATACACATAT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG01070.hp2 others(13): Show HG00609.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01169.hp1 HG01361.hp1 HG02683.hp2 HG03490.hp2 HG03492.hp1 HG03927.hp1 NA18941.hp2 NA18945.hp1 NA19012.hp1 NA19084.hp1 NA20129.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0002 a0002c0005t0002 a0002c0002t0002 a0002c0005t0002	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0061 others(8): Show a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0223 a0002c0005t0002g0002	16	268	0.0597	-32	c.202 others(49): Show c.202-4724_202-4693delCATATATATATATATATATATATACACA TATA	HINT3	ENSG00000111911.7	transcript	ENST00000229633.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIP1R_chr12_122830457_122867961	122850405	CGCTGGGT others(25): Show CGCTGGGTTGGGGGGCCCCCTGGTTCGGTGGCT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA20300.hp1 NA21309.hp2 NA19030.hp2 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0158 a0001c0001t0001g0032 a0001c0001t0001g0158	3	348	0.0086	-32	c.439 others(47): Show c.439-422_439-391delTGGGGGGCCCCCTGGTTCGGTGGCTGCTGG GT	HIP1R	ENSG00000130787.14	transcript	ENST00000253083.9	protein_coding	5/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
HIPK1_chr1_113924324_113982869	113977586	GAGTATGT others(25): Show GAGTATGTAAAATAATCATTTTAACAAAAGAAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0022	a0001c0003t0022g0305 a0001c0003t0022g0305	1	382	0.0026	-32	c.40 others(43): Show c.4075_*4106delAGTATGTAAAATAATCATTTTAACAAAAGAAA	HIPK1	ENSG00000163349.22	transcript	ENST00000426820.7	protein_coding	16/16	4075		chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41531230	AACAGGAG others(25): Show AACAGGAGAGATGGAGGACAGGGGAGATGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG01109.hp1 others(23): Show HG00280.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG02004.hp1 HG02145.hp1 HG02622.hp1 HG02723.hp2 HG02735.hp1 HG02922.hp1 HG03041.hp1 HG03225.hp2 HG03516.hp1 HG03579.hp2 HG03710.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA21309.hp1	a0001 a0003 a0007 others(9): Show a0001 a0003 a0007 a0011 a0013 a0023 a0026 a0027 a0028 a0029 a0031 a0033	a0001c0004 a0001c0028 a0003c0006 others(10): Show a0001c0004 a0001c0028 a0003c0006 a0007c0008 a0011c0022 a0013c0015 a0023c0027 a0026c0033 a0027c0026 a0028c0035 a0029c0041 a0031c0036 a0033c0019	a0001c0004t0006 a0001c0004t0007 a0001c0004t0012 others(19): Show a0001c0004t0006 a0001c0004t0007 a0001c0004t0012 a0001c0004t0081 a0001c0004t0082 a0001c0004t0084 a0001c0004t0085 a0001c0028t0080 a0003c0006t0030 a0003c0006t0041 a0003c0006t0057 a0003c0006t0058 a0007c0008t0007 a0011c0022t0015 a0013c0015t0014 a0023c0027t0003 a0026c0033t0011 a0027c0026t0054 a0028c0035t0019 a0029c0041t0027 a0031c0036t0048 a0033c0019t0015	a0001c0004t0006g0088 a0001c0004t0007g0087 a0001c0004t0012g0108 others(23): Show a0001c0004t0006g0088 a0001c0004t0007g0087 a0001c0004t0012g0108 a0001c0004t0012g0113 a0001c0004t0081g0104 a0001c0004t0082g0129 a0001c0004t0084g0105 a0001c0004t0085g0128 a0001c0028t0080g0063 a0003c0006t0030g0045 a0003c0006t0041g0091 a0003c0006t0057g0023 a0003c0006t0058g0021 a0007c0008t0007g0020 a0007c0008t0007g0061 a0007c0008t0007g0067 a0011c0022t0015g0068 a0013c0015t0014g0024 a0013c0015t0014g0032 a0023c0027t0003g0077 a0026c0033t0011g0095 a0027c0026t0054g0076 a0028c0035t0019g0026 a0029c0041t0027g0005 a0031c0036t0048g0119 a0033c0019t0015g0057	26	134	0.1940	-32	c.520 others(51): Show c.5208-6352_5208-6321delCCTCCATCTCCCCTGTCCTCCATCTC TCCTGT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824766	TATATATA others(25): Show TATATATATATATATATATAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG06807.hp1 NA18906.hp2 others(1): Show HG02109.hp1 HG06807.hp1 NA18906.hp2 NA18986.hp2	a0002 a0009 a0012 others(1): Show a0002 a0009 a0012 a0028	a0002c0002 a0009c0009 a0012c0016 others(1): Show a0002c0002 a0009c0009 a0012c0016 a0028c0035	a0002c0002t0032 a0009c0009t0016 a0012c0016t0003 others(1): Show a0002c0002t0032 a0009c0009t0016 a0012c0016t0003 a0028c0035t0019	a0002c0002t0032g0103 a0009c0009t0016g0079 a0012c0016t0003g0092 others(1): Show a0002c0002t0032g0103 a0009c0009t0016g0079 a0012c0016t0003g0092 a0028c0035t0019g0026	4	134	0.0299	-32	c.-80 others(53): Show c.-801+93615_-801+93646delCTCTCTCTCTCTCTATATATATAT ATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824768	TATATATA others(25): Show TATATATATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA19003.hp2 HG00280.hp1 NA19003.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0028 a0002c0002t0029 a0001c0003t0028 a0002c0002t0029	a0001c0003t0028g0029 a0002c0002t0029g0059 a0001c0003t0028g0029 a0002c0002t0029g0059	2	134	0.0149	-32	c.-80 others(53): Show c.-801+93613_-801+93644delCTCTCTCTCTCTCTCTATATATAT ATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824770	TATATATA others(25): Show TATATATATATATATAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp2 HG03540.hp1 others(1): Show HG02145.hp1 HG03130.hp2 HG03540.hp1 HG04204.hp1	a0001 a0021 a0027 a0001 a0021 a0027	a0001c0001 a0001c0003 a0021c0040 others(1): Show a0001c0001 a0001c0003 a0021c0040 a0027c0026	a0001c0001t0019 a0001c0003t0002 a0021c0040t0043 others(1): Show a0001c0001t0019 a0001c0003t0002 a0021c0040t0043 a0027c0026t0054	a0001c0001t0019g0096 a0001c0003t0002g0066 a0021c0040t0043g0078 others(1): Show a0001c0001t0019g0096 a0001c0003t0002g0066 a0021c0040t0043g0078 a0027c0026t0054g0076	4	134	0.0299	-32	c.-80 others(53): Show c.-801+93611_-801+93642delCTCTCTCTCTCTCTCTCTATATAT ATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824772	TATATATA others(25): Show TATATATATATATAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19057.hp1 NA19076.hp1 HG02004.hp2 NA19057.hp1 NA19076.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0029 a0001c0001 a0003c0029	a0001c0001t0001 a0001c0001t0074 a0003c0029t0061 a0001c0001t0001 a0001c0001t0074 a0003c0029t0061	a0001c0001t0001g0102 a0001c0001t0074g0106 a0003c0029t0061g0071 a0001c0001t0001g0102 a0001c0001t0074g0106 a0003c0029t0061g0071	3	134	0.0224	-32	c.-80 others(53): Show c.-801+93609_-801+93640delCTCTCTCTCTCTCTCTCTCTATAT ATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824774	TATATATA others(25): Show TATATATATATAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18961.hp1 NA18906.hp1 NA18961.hp1	a0013 a0030 a0013 a0030	a0013c0015 a0030c0034 a0013c0015 a0030c0034	a0013c0015t0014 a0030c0034t0011 a0013c0015t0014 a0030c0034t0011	a0013c0015t0014g0024 a0030c0034t0011g0101 a0013c0015t0014g0024 a0030c0034t0011g0101	2	134	0.0149	-32	c.-80 others(53): Show c.-801+93607_-801+93638delCTCTCTCTCTCTCTCTCTCTCTAT ATATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41824778	TATATATA others(25): Show TATATATAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0049 a0008c0010t0049	a0008c0010t0049g0028 a0008c0010t0049g0028	1	134	0.0075	-32	c.-80 others(53): Show c.-801+93603_-801+93634delCTCTCTCTCTCTCTCTCTCTCTCT CTATATAT	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	1/8			chr1	TogoVar
HJURP_chr2_233831702_233859535	233855120	ATGTATTT others(25): Show ATGTATTTCTGATTGCATATTCTGCTTCTTCAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0159 a0007c0008t0001g0159	1	450	0.0022	-32	c.-65 others(41): Show c.-652_-621delATGAAGAAGCAGAATATGCAATCAGAAATACA	HJURP	ENSG00000123485.12	transcript	ENST00000411486.7	protein_coding		586		chr2	TogoVar
HLA-DRA_chr6_32434887_32450046	32449132	CAAGGAAG others(25): Show CAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02965.hp1 HG03041.hp2 others(2): Show HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03139.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0020 a0002c0002t0005g0020	5	459	0.0109	-32	c.44 others(43): Show c.4493_*4524delAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	HLA-DRA	ENSG00000204287.14	transcript	ENST00000395388.7	protein_coding		4087		chr6	TogoVar
HLCS_chr21_36743626_36971669	36888435	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0223 a0001c0001t0013g0223	1	258	0.0039	-32	c.189 others(51): Show c.1892+8393_1892+8424delATATATATATATATATATATATTTTT TTTTTT	HLCS	ENSG00000159267.17	transcript	ENST00000674895.3	protein_coding	6/10			chr21	TogoVar
HLX_chr1_220874443_220890059	220883284	TACACACA others(25): Show TACACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0076 a0001c0001t0008g0076	1	438	0.0023	-32	c.958 others(47): Show c.958-894_958-863delACACACACACACACACACACACACACACAC AC	HLX	ENSG00000136630.13	transcript	ENST00000366903.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186005212	TGTTTATA others(25): Show TGTTTATAAACAATTTTTTAATTGTTTATAAAC	T T	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0037 a0037	a0037c0038 a0037c0038	a0037c0038t0001 a0037c0038t0001	a0037c0038t0001g0038 a0037c0038t0001g0038	1	92	0.0109	-32	c.447 others(51): Show c.4475+1381_4475+1412delTTTTTTAATTGTTTATAAACGTTTAT AAACAA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	29/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186005225	TTTTTTAA others(25): Show TTTTTTAATTGTTTATAAACGTTTATAAACAAA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0053 a0006c0006t0002g0053	1	92	0.0109	-32	c.447 others(51): Show c.4475+1400_4475+1431delCGTTTATAAACAAATTTTTAATTGTT TATAAA	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	29/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMCN1_chr1_185729391_186195949	186063449	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	92	0.0109	-32	c.751 others(49): Show c.7513+883_7513+914delAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGG	HMCN1	ENSG00000143341.12	transcript	ENST00000271588.9	protein_coding	48/106		INFO_REALIGN_3_PRIME	chr1	TogoVar
HMGB2_chr4_173326376_173339358	173331353	CGTATATA others(25): Show CGTATATATGTGTATATATATACATATATATAT	C C	splice_region_variant splice_region_variant	LOW	HG01884.hp1 HG02145.hp1 HG02257.hp2 others(8): Show HG01884.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG03130.hp1 HG03209.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0004 a0001c0001t0006g0019 a0001c0001t0006g0020	11	370	0.0297	-32	c.69 others(41): Show c.695_*726delATATATATATGTATATATATACACATATATAC	HMGB2	ENSG00000164104.12	transcript	ENST00000296503.10	protein_coding	5/5			chr4	TogoVar
HMGCLL1_chr6_55429373_55584192	55539974	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03209.hp1 NA20300.hp2 HG01243.hp1 HG03209.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0148 a0001c0001t0003g0147 a0001c0001t0009g0247 a0001c0001t0001g0148 a0001c0001t0003g0147 a0001c0001t0009g0247	3	334	0.0090	-32	c.297 others(49): Show c.297+1723_297+1754delCCCTCCCTCCCTTCCTTCCTTCCTTCCT TCCT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	3/8			chr6	TogoVar
HMGCLL1_chr6_55429373_55584192	55539982	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	334	0.0030	-32	c.297 others(49): Show c.297+1715_297+1746delCCCTCCCTCCCTCCCTCCCTTCCTTCCT TCCT	HMGCLL1	ENSG00000146151.14	transcript	ENST00000274901.9	protein_coding	3/8			chr6	TogoVar
HMGCR_chr5_75332220_75367101	75363978	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02056.hp1 HG02132.hp2 others(3): Show HG02027.hp1 HG02056.hp1 HG02132.hp2 HG02135.hp1 NA18962.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0009 a0001c0001t0003 a0001c0002t0009	a0001c0001t0003g0032 a0001c0002t0009g0025 a0001c0002t0009g0026 others(1): Show a0001c0001t0003g0032 a0001c0002t0009g0025 a0001c0002t0009g0026 a0001c0002t0009g0056	6	390	0.0154	-32	c.36 others(43): Show c.3637_*3668delGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGT	HMGCR	ENSG00000113161.17	transcript	ENST00000287936.9	protein_coding		1878		chr5	TogoVar
HMOX1_chr22_35376096_35399207	35387626	CTAGCCAG others(25): Show CTAGCCAGAGAGGTTTACCTCTTTCTACAAGTG	C C	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	384	0.0026	-32	c.636 others(47): Show c.636+452_636+483delAGCCAGAGAGGTTTACCTCTTTCTACAAGT GT	HMOX1	ENSG00000100292.18	transcript	ENST00000216117.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
HNRNPA1L2_chr13_52637431_52648773	52638472	TTTGGTTC others(25): Show TTTGGTTCTAAAGAATGTATTATCCTTAGATTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02630.hp1 others(4): Show HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02922.hp2 HG03130.hp1 NA19030.hp2 NA20300.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0001 a0001c0001t0001 a0008c0010t0001	a0001c0001t0001g0000 a0008c0010t0001g0000 a0001c0001t0001g0000 a0008c0010t0001g0000	7	436	0.0161	-32	c.-40 others(43): Show c.-4020_-3989delTTGGTTCTAAAGAATGTATTATCCTTAGATTC	HNRNPA1L2	ENSG00000139675.13	transcript	ENST00000357495.5	protein_coding		3958		chr13	TogoVar
HNRNPK_chr9_83963083_83985215	83965604	ACCTCCGC others(25): Show ACCTCCGCCTCCCAGATTCAAGCAATTCTCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02559.hp1 others(13): Show HG02109.hp2 HG02257.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02970.hp2 HG03139.hp1 HG03471.hp1 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0012 a0001c0001t0003g0020 a0001c0001t0003g0044 others(5): Show a0001c0001t0003g0012 a0001c0001t0003g0020 a0001c0001t0003g0044 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0114 a0001c0001t0010g0113	16	414	0.0387	-32	c.37 others(43): Show c.3771_*3802delCAGGAGAATTGCTTGAATCTGGGAGGCGGAGG	HNRNPK	ENSG00000165119.22	transcript	ENST00000376263.8	protein_coding		2478		chr9	TogoVar
HNRNPR_chr1_23299688_23349284	23314170	ATTAGAAA others(25): Show ATTAGAAAAAAAGGAGAAAAGCTGGTCCATGCC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	354	0.0028	-32	c.101 others(49): Show c.1018-500_1018-469delGGCATGGACCAGCTTTTCTCCTTTTTTT CTAA	HNRNPR	ENSG00000125944.22	transcript	ENST00000302271.11	protein_coding	8/10			chr1	TogoVar

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Search Results (Total: 5012 hits)