Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PXDNL_chr8_51314577_51814445	51577991	GAAAGAAA others(29): Show GAAAGAAAGAGGAAGGAAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02615.hp1 HG02886.hp2 others(1): Show HG00741.hp2 HG02615.hp1 HG02886.hp2 HG02897.hp1	a0004 a0009 a0021 a0004 a0009 a0021	a0004c0004 a0009c0012 a0021c0022 a0004c0004 a0009c0012 a0021c0022	a0004c0004t0001 a0009c0012t0003 a0021c0022t0003 a0004c0004t0001 a0009c0012t0003 a0021c0022t0003	a0004c0004t0001g0049 a0004c0004t0001g0065 a0009c0012t0003g0012 others(1): Show a0004c0004t0001g0049 a0004c0004t0001g0065 a0009c0012t0003g0012 a0021c0022t0003g0004	4	122	0.0328	-36	c.308 others(55): Show c.308+14600_308+14635delTCCTTCCTTCCTTCCTTCCTTCCTTC CTCTTTCTTT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	3/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51600640	GTTAGATA others(29): Show GTTAGATAATAAATTATATCTTATATAAATTATATAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01517.hp2 others(9): Show HG01167.hp1 HG01169.hp1 HG01517.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG03486.hp1 HG03669.hp2 NA18956.hp2 NA18979.hp2 NA19086.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0015 a0031	a0001c0001 a0001c0011 a0001c0032 others(6): Show a0001c0001 a0001c0011 a0001c0032 a0002c0002 a0003c0003 a0003c0005 a0007c0007 a0015c0044 a0031c0020	a0001c0001t0001 a0001c0001t0002 a0001c0011t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0011t0002 a0001c0032t0002 a0002c0002t0001 a0003c0003t0001 a0003c0005t0001 a0007c0007t0001 a0015c0044t0001 a0031c0020t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0002g0095 others(9): Show a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0011t0002g0100 a0001c0032t0002g0106 a0002c0002t0001g0039 a0003c0003t0001g0021 a0003c0005t0001g0070 a0007c0007t0001g0031 a0015c0044t0001g0061 a0031c0020t0001g0084	12	122	0.0984	-36	c.237 others(53): Show c.237-7978_237-7943delTTATATAATTTATATAAGATATAATTTA TTATCTAA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51744958	AAGAAAGA others(29): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02155.hp2 NA18959.hp2 HG00438.hp2 HG02155.hp2 NA18959.hp2	a0001 a0002 a0001 a0002	a0001c0032 a0002c0002 a0001c0032 a0002c0002	a0001c0032t0002 a0002c0002t0002 a0001c0032t0002 a0002c0002t0002	a0001c0032t0002g0106 a0002c0002t0002g0104 a0002c0002t0002g0109 a0001c0032t0002g0106 a0002c0002t0002g0104 a0002c0002t0002g0109	3	122	0.0246	-36	c.164 others(55): Show c.164+64187_164+64222delCCCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	1/22			chr8	TogoVar
PYGB_chr20_25243085_25303012	25298918	TGGTGCCC others(29): Show TGGTGCCCTGGGAGTCTCTGCCTCCCCAGGTCTGTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0028 a0001c0004t0002g0028	1	372	0.0027	-36	c.23 others(47): Show c.2397_*2432delGGTGCCCTGGGAGTCTCTGCCTCCCCAGGTCTGT GG	PYGB	ENSG00000100994.12	transcript	ENST00000216962.9	protein_coding		907		chr20	TogoVar
QRFPR_chr4_121323642_121386018	121365638	ATTTTATA others(29): Show ATTTTATATATTATATATTATATATATTTTATATATT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(67): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00558.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02300.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18747.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18953.hp1 NA18965.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18975.hp1 NA18981.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18993.hp2 NA18994.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19082.hp2 NA19089.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0011	a0001c0001 a0002c0002 a0009c0017 others(1): Show a0001c0001 a0002c0002 a0009c0017 a0011c0014	a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 others(5): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0001t0025 a0001c0001t0026 a0002c0002t0004 a0009c0017t0002 a0011c0014t0002	a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 others(64): Show a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0232 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0009g0233 a0001c0001t0009g0241 a0001c0001t0009g0244 a0001c0001t0009g0245 a0001c0001t0009g0246 a0001c0001t0009g0247 a0001c0001t0009g0248 a0001c0001t0012g0068 a0001c0001t0012g0093 a0001c0001t0025g0321 a0001c0001t0026g0328 a0002c0002t0004g0297 a0002c0002t0004g0306 a0002c0002t0004g0330 a0009c0017t0002g0336 a0011c0014t0002g0311	70	384	0.1823	-36	c.340 others(55): Show c.340+14634_340+14669delAATATATAAAATATATATAATATATA ATATATAAAA	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
R3HDM4_chr19_891503_918219	891731	CGGGGCTG others(29): Show CGGGGCTGACTGACAGGGAACACCTGTGGCCGAGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG03209.hp2 HG01243.hp1 HG02647.hp1 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0003c0006t0009 a0001c0001t0001 a0003c0006t0001 a0003c0006t0009	a0001c0001t0001g0211 a0003c0006t0001g0388 a0003c0006t0009g0032 a0001c0001t0001g0211 a0003c0006t0001g0388 a0003c0006t0009g0032	3	432	0.0069	-36	c.56 others(47): Show c.5670_*5705delCGCCTCGGCCACAGGTGTTCCCTGTCAGTCAGCC CC	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		4771		chr19	TogoVar
R3HDM4_chr19_891503_918219	891805	GGGGCTGA others(29): Show GGGGCTGAGTGTGACGGGGAACACCTGTGGCCGAGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03209.hp2 HG02647.hp1 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0211 a0003c0006t0001g0388 a0001c0001t0001g0211 a0003c0006t0001g0388	2	432	0.0046	-36	c.55 others(47): Show c.5596_*5631delGCCTCGGCCACAGGTGTTCCCCGTCACACTCAGC CC	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		4697		chr19	TogoVar
RAB10_chr2_26029084_26142454	26092261	CTGTGTGT others(29): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	212	0.0047	-36	c.128 others(53): Show c.128-6375_128-6340delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445552	ATATATAT others(29): Show ATATATATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01167.hp1 HG02683.hp2 HG00099.hp1 HG01167.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208	3	310	0.0097	-36	c.336 others(55): Show c.336+11432_336+11467delATATATATATATATATATATATATAT TTTTTTTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB18_chr10_27499304_27547239	27508079	ATCTAATA others(29): Show ATCTAATAGAGAAATGGACTCTCTGTCCCTTTCAAAG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03942.hp2 others(1): Show HG03491.hp2 HG03492.hp2 HG03942.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0033 a0001c0001t0001g0092 a0001c0001t0001g0104	4	410	0.0098	-36	c.69- others(51): Show c.69-1771_69-1736delTCCCTTTCAAAGTCTAATAGAGAAATGGAC TCTCTG	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
RAB31_chr18_9703301_9867551	9837075	AGAGAGTC others(29): Show AGAGAGTCAGTGTGAGGAATGGGGTGAGACACCTGGG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp2 HG02080.hp1 others(16): Show HG01099.hp1 HG01884.hp2 HG02080.hp1 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03669.hp2 HG03710.hp1 NA18612.hp1 NA18612.hp2 NA18951.hp2 NA18954.hp1 NA19070.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0013 a0001c0001t0015 a0001c0001t0035 a0001c0001t0044	a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0197 others(16): Show a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0197 a0001c0001t0001g0234 a0001c0001t0001g0277 a0001c0001t0002g0051 a0001c0001t0002g0080 a0001c0001t0002g0110 a0001c0001t0002g0171 a0001c0001t0002g0262 a0001c0001t0003g0020 a0001c0001t0004g0220 a0001c0001t0013g0156 a0001c0001t0013g0172 a0001c0001t0013g0198 a0001c0001t0015g0115 a0001c0001t0015g0117 a0001c0001t0035g0073 a0001c0001t0044g0159	19	322	0.0590	-36	c.381 others(53): Show c.381-8475_381-8440delCTGGGGAGAGTCAGTGTGAGGAATGGGG TGAGACAC	RAB31	ENSG00000168461.13	transcript	ENST00000578921.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
RAB3B_chr1_51902956_51995700	51995073	TCCAAATG others(29): Show TCCAAATGCCCAAGGAAGAATGGGAAGGAAAACAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0040 a0001c0001t0028g0040	1	62	0.0161	-36	c.-45 others(47): Show c.-4558_-4523delTTTTGTTTTCCTTCCCATTCTTCCTTGGGCATTT GG	RAB3B	ENSG00000169213.7	transcript	ENST00000371655.4	protein_coding		4374		chr1	TogoVar
RAB3C_chr5_58578075_58864394	58596630	AATATATA others(29): Show AATATATAAATATATAATATATAATACATAATATATT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp1 HG03453.hp2 others(2): Show HG02451.hp2 HG02922.hp1 HG03453.hp2 HG03471.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0032 a0001c0001t0043 others(2): Show a0001c0001t0011 a0001c0001t0032 a0001c0001t0043 a0001c0001t0059 a0001c0001t0084	a0001c0001t0011g0010 a0001c0001t0032g0218 a0001c0001t0043g0099 others(2): Show a0001c0001t0011g0010 a0001c0001t0032g0218 a0001c0001t0043g0099 a0001c0001t0059g0216 a0001c0001t0084g0217	5	220	0.0227	-36	c.24+ others(53): Show c.24+13470_24+13505delTATATATAAATATATAATATATAATACA TAATATAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB40C_chr16_585066_634268	587367	ATCCCTCC others(29): Show ATCCCTCCCTTCACTGGGCCTGCTGCCCCAGAGTCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 NA18943.hp1 HG01109.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0117 a0001c0001t0001g0078 a0001c0001t0001g0117	2	350	0.0057	-36	c.-29 others(47): Show c.-2924_-2889delTCCCTCCCTTCACTGGGCCTGCTGCCCCAGAGTC CG	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2698		chr16	TogoVar
RAB40C_chr16_585066_634268	620692	CCCCGATG others(29): Show CCCCGATGGGCTCCACCGCGGGCATCCCAGCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03130.hp1 NA18906.hp2 HG02622.hp1 HG03130.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0159	3	350	0.0086	-36	c.264 others(53): Show c.264+2435_264+2470delCGATGGGCTCCACCGCGGGCATCCCAGC CCCCCGCC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB44_chr6_36692826_36738184	36734313	CAGAGAGA others(29): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG03486.hp2 HG01243.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0023 a0001c0004t0005 a0001c0001t0023 a0001c0004t0005	a0001c0001t0023g0162 a0001c0004t0005g0050 a0001c0001t0023g0162 a0001c0004t0005g0050	2	428	0.0047	-36	c.22 others(47): Show c.2221_*2256delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1130		chr6	TogoVar
RAB4A_chr1_229266111_229310894	229302277	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0317 a0001c0001t0002g0317	1	400	0.0025	-36	c.542 others(51): Show c.542-583_542-548delATATATATATATATATATATATATATATAT ATTTTT	RAB4A	ENSG00000168118.12	transcript	ENST00000366690.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB5C_chr17_42119979_42159989	42144925	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00639.hp2 others(24): Show HG00099.hp1 HG00323.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01192.hp2 HG01255.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02109.hp2 HG02148.hp2 HG02615.hp2 HG02976.hp1 HG03098.hp1 HG03688.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18957.hp2 NA18977.hp2 NA19066.hp1 NA19077.hp1 NA19081.hp2 NA19091.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0003t0008	a0001c0001t0001g0039 a0001c0002t0001g0006 a0001c0002t0001g0020 others(19): Show a0001c0001t0001g0039 a0001c0002t0001g0006 a0001c0002t0001g0020 a0001c0002t0001g0031 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0166 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0188 a0001c0002t0001g0265 a0001c0003t0001g0008 a0001c0003t0001g0232 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0004g0026 a0001c0003t0008g0231	27	306	0.0882	-36	c.-89 others(53): Show c.-89+9932_-89+9967delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	RAB5C	ENSG00000108774.15	transcript	ENST00000346213.9	protein_coding	1/5			chr17	TogoVar
RAB5C_chr17_42119979_42159989	42158981	GTGCTACA others(29): Show GTGCTACATTTTGTAGAGAAATTGGAATATCTGTATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	306	0.0033	-36	c.-42 others(47): Show c.-4213_-4178delAATACAGATATTCCAATTTCTCTACAAAATGTAG CA	RAB5C	ENSG00000108774.15	transcript	ENST00000346213.9	protein_coding		3993		chr17	TogoVar
RAB5IF_chr20_36600779_36617557	36609183	ACACACAC others(29): Show ACACACACACACGCACACACGCACACACGCACACACG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02895.hp2 NA18972.hp2 others(1): Show HG02647.hp2 HG02895.hp2 NA18972.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0114 a0001c0001t0001g0148 a0001c0001t0001g0221 others(1): Show a0001c0001t0001g0114 a0001c0001t0001g0148 a0001c0001t0001g0221 a0001c0001t0002g0146	4	398	0.0101	-36	c.219 others(51): Show c.219-406_219-371delGCACACACGCACACACGCACACACGCACAC ACACAC	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
RAB6B_chr3_133819235_133900882	133889388	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18970.hp1 NA18980.hp2 others(3): Show HG01361.hp1 NA18970.hp1 NA18980.hp2 NA19012.hp2 NA19030.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0016 a0001c0001t0037 a0001c0002t0010	a0001c0001t0002g0109 a0001c0001t0004g0108 a0001c0001t0006g0365 others(3): Show a0001c0001t0002g0109 a0001c0001t0004g0108 a0001c0001t0006g0365 a0001c0001t0016g0110 a0001c0001t0037g0017 a0001c0002t0010g0279	6	386	0.0155	-36	c.70+ others(51): Show c.70+5973_70+6008delTATATATATATATATATATATATATATATA TATATA	RAB6B	ENSG00000154917.11	transcript	ENST00000285208.9	protein_coding	1/7			chr3	TogoVar
RABAC1_chr19_41951683_41964321	41961357	GTTCAAGC others(29): Show GTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02615.hp2 HG02109.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	368	0.0054	-36	c.-21 others(47): Show c.-2101_-2066delGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTG AA	RABAC1	ENSG00000105404.11	transcript	ENST00000222008.11	protein_coding		2037		chr19	TogoVar
RABGAP1L_chr1_174154520_175000308	174972886	GAAGGCTT others(29): Show GAAGGCTTTATAATTTGGGCTCAAAGGTAGAATTTGA	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	272	0.0037	-36	c.254 others(55): Show c.2545-3156_2545-3121delAAAGGCTTTATAATTTGGGCTCAAAG GTAGAATTTG	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	21/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1_chr9_122936020_123109866	123103582	AATATACA others(29): Show AATATACATATATATATATATATATATATATATATAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0199 a0001c0001t0120g0199	1	258	0.0039	-36	c.37 others(45): Show c.375_*410delCATATATATATATATATATATATATATATATATATA	RABGAP1	ENSG00000011454.18	transcript	ENST00000373647.9	protein_coding	26/26	375	INFO_REALIGN_3_PRIME	chr9	TogoVar
RAD51B_chr14_67814779_68483093	68428707	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01261.hp1 HG02080.hp2 others(6): Show HG01123.hp2 HG01261.hp1 HG02080.hp2 HG02735.hp1 HG03942.hp2 NA18944.hp1 NA19012.hp2 NA19030.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0043 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0004g0029	9	84	0.1071	-36	c.957 others(55): Show c.957+17203_957+17238delTATATATATATATATATATATATATA TATATATATA	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RADIL_chr7_4792055_4888716	4802385	TACCTCGG others(29): Show TACCTCGGGGCACGCTGGCTGGGCCCCCTCCCCGGGC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	292	0.0034	-36	c.250 others(53): Show c.2500-426_2500-391delGCCCGGGGAGGGGGCCCAGCCAGCGTGC CCCGAGGT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RADIL_chr7_4792055_4888716	4802779	GCCCCCTC others(29): Show GCCCCCTCCCCAGACACCTCGGGTCATGCTGGCTGGA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp2 NA18954.hp2 HG02257.hp2 HG02647.hp2 NA18954.hp2	a0002 a0011 a0002 a0011	a0002c0008 a0011c0022 a0011c0043 a0002c0008 a0011c0022 a0011c0043	a0002c0008t0040 a0011c0022t0053 a0011c0043t0046 a0002c0008t0040 a0011c0022t0053 a0011c0043t0046	a0002c0008t0040g0028 a0011c0022t0053g0159 a0011c0043t0046g0136 a0002c0008t0040g0028 a0011c0022t0053g0159 a0011c0043t0046g0136	3	292	0.0103	-36	c.249 others(53): Show c.2499+731_2499+766delTCCAGCCAGCATGACCCGAGGTGTCTGG GGAGGGGG	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RADIL_chr7_4792055_4888716	4803116	CCCCCTCC others(29): Show CCCCCTCCCCGGGTACCTCGGGGCACTCTGGCTGGGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00741.hp1 HG01167.hp1 others(9): Show HG00639.hp2 HG00741.hp1 HG01167.hp1 HG01169.hp1 HG01346.hp1 HG01978.hp2 HG02080.hp1 HG02735.hp2 HG02738.hp2 HG03654.hp2 HG03669.hp2 HG03942.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0001 a0005c0003t0002 a0005c0003t0034 a0005c0003t0001 a0005c0003t0002 a0005c0003t0034	a0005c0003t0001g0163 a0005c0003t0001g0186 a0005c0003t0002g0020 others(9): Show a0005c0003t0001g0163 a0005c0003t0001g0186 a0005c0003t0002g0020 a0005c0003t0002g0031 a0005c0003t0002g0033 a0005c0003t0002g0037 a0005c0003t0002g0038 a0005c0003t0002g0039 a0005c0003t0002g0041 a0005c0003t0002g0057 a0005c0003t0002g0067 a0005c0003t0034g0068	12	292	0.0411	-36	c.249 others(53): Show c.2499+394_2499+429delACCCAGCCAGAGTGCCCCGAGGTACCCG GGGAGGGG	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RADIL_chr7_4792055_4888716	4803129	TACCTCGG others(29): Show TACCTCGGGGCACTCTGGCTGGGTCCCCTCCCCGGGC	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02055.hp2 HG02109.hp1 others(19): Show HG01515.hp1 HG02055.hp2 HG02109.hp1 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 NA19240.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0003 a0005 a0029 a0003 a0005 a0029	a0003c0005 a0003c0013 a0003c0021 others(2): Show a0003c0005 a0003c0013 a0003c0021 a0005c0003 a0029c0045	a0003c0005t0005 a0003c0005t0013 a0003c0005t0016 others(10): Show a0003c0005t0005 a0003c0005t0013 a0003c0005t0016 a0003c0005t0043 a0003c0005t0060 a0003c0013t0001 a0003c0013t0002 a0003c0013t0016 a0003c0021t0013 a0003c0021t0047 a0005c0003t0005 a0005c0003t0057 a0029c0045t0002	a0003c0005t0005g0075 a0003c0005t0005g0093 a0003c0005t0005g0097 others(19): Show a0003c0005t0005g0075 a0003c0005t0005g0093 a0003c0005t0005g0097 a0003c0005t0005g0098 a0003c0005t0005g0099 a0003c0005t0005g0144 a0003c0005t0013g0078 a0003c0005t0013g0079 a0003c0005t0016g0167 a0003c0005t0016g0168 a0003c0005t0043g0094 a0003c0005t0060g0160 a0003c0013t0001g0179 a0003c0013t0001g0180 a0003c0013t0002g0145 a0003c0013t0002g0155 a0003c0013t0016g0212 a0003c0021t0013g0096 a0003c0021t0047g0118 a0005c0003t0005g0095 a0005c0003t0057g0240 a0029c0045t0002g0102	22	292	0.0753	-36	c.249 others(53): Show c.2499+381_2499+416delGCCCGGGGAGGGGACCCAGCCAGAGTGC CCCGAGGT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RALBP1_chr18_9470513_9543114	9486208	CTCTTCCT others(29): Show CTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0274 a0001c0001t0014g0274	1	362	0.0028	-36	c.-56 others(55): Show c.-56+10518_-56+10553delTCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	RALBP1	ENSG00000017797.13	transcript	ENST00000383432.8	protein_coding	1/9			chr18	TogoVar
RALBP1_chr18_9470513_9543114	9486209	TCTTCCTT others(29): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	362	0.0028	-36	c.-56 others(55): Show c.-56+10537_-56+10572delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	RALBP1	ENSG00000017797.13	transcript	ENST00000383432.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
RALGDS_chr9_133092722_133126240	133105848	AGCCCCCG others(29): Show AGCCCCCGCCCCAGCCCCAGCCCCCGCCCCAGCCCCC	A A	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18964.hp1 NA18990.hp1 NA18961.hp1 NA18964.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0125 a0001c0008t0001g0087 a0001c0008t0001g0190 a0001c0001t0001g0125 a0001c0008t0001g0087 a0001c0008t0001g0190	3	424	0.0071	-36	c.160 others(51): Show c.1602+48_1602+83delGGGGGCTGGGGCGGGGGCTGGGGCTGGGGC GGGGGC	RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding	9/17			chr9	TogoVar
RALGDS_chr9_133092722_133126240	133123552	TACTTAGC others(29): Show TACTTAGCCAGTCCCTCTGGCCGGTGTCTGTTTTTAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	424	0.0024	-36	c.-24 others(47): Show c.-2434_-2399delGTAAAAACAGACACCGGCCAGAGGGACTGGCTAA GT	RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding		2313		chr9	TogoVar
RALYL_chr8_84178274_84926844	84765138	CTGCCAGA others(29): Show CTGCCAGACAGATCTCTCTACAGCACTCCTTTAATCA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0017 a0001c0001t0007g0017	1	82	0.0122	-36	c.257 others(53): Show c.257-9437_257-9402delCAGACAGATCTCTCTACAGCACTCCTTT AATCATGC	RALYL	ENSG00000184672.12	transcript	ENST00000521268.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RANBP9_chr6_13616498_13716835	13632118	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0058 a0001c0002t0002g0058	1	360	0.0028	-36	c.194 others(53): Show c.1947+216_1947+251delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	12/13			chr6	TogoVar
RAPGEF1_chr9_131571775_131745076	131586489	CACACACA others(29): Show CACACACACACACACCTGCAGAGCGAGACTCCGTCAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01346.hp2 others(30): Show HG00738.hp2 HG01099.hp1 HG01346.hp2 HG01358.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02922.hp1 HG02965.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03927.hp1 HG04204.hp1 NA18939.hp2 NA18952.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA19002.hp2 NA19005.hp1 NA19063.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA20752.hp1 NA20905.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0006c0015	a0001c0001t0002 a0001c0001t0018 a0001c0001t0026 others(5): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0026 a0001c0003t0002 a0001c0003t0024 a0001c0005t0017 a0001c0009t0002 a0006c0015t0002	a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0159 others(29): Show a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0159 a0001c0001t0002g0201 a0001c0001t0002g0208 a0001c0001t0002g0238 a0001c0001t0002g0252 a0001c0001t0002g0278 a0001c0001t0002g0301 a0001c0001t0018g0361 a0001c0001t0018g0362 a0001c0001t0026g0198 a0001c0003t0002g0003 a0001c0003t0002g0147 a0001c0003t0002g0152 a0001c0003t0002g0164 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0170 a0001c0003t0002g0171 a0001c0003t0002g0172 a0001c0003t0002g0173 a0001c0003t0002g0174 a0001c0003t0002g0176 a0001c0003t0002g0180 a0001c0003t0002g0205 a0001c0003t0002g0339 a0001c0003t0024g0044 a0001c0005t0017g0045 a0001c0009t0002g0063 a0001c0009t0002g0065 a0006c0015t0002g0149	33	368	0.0897	-36	c.323 others(55): Show c.3233+1211_3233+1246delTTGACGGAGTCTCGCTCTGCAGGTGT GTGTGTGTGT	RAPGEF1	ENSG00000107263.19	transcript	ENST00000683357.1	protein_coding	22/26			chr9	TogoVar
RAPGEF4_chr2_172730845_173057893	172857881	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00642.hp2 HG00738.hp2 others(18): Show HG00408.hp2 HG00642.hp2 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01106.hp1 HG01257.hp1 HG01261.hp2 HG02738.hp1 HG02896.hp1 HG03239.hp2 HG03704.hp2 HG06807.hp1 NA18971.hp2 NA18972.hp1 NA19005.hp1 NA19007.hp2 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0061 others(18): Show a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0103 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0157 a0001c0001t0002g0034 a0001c0002t0002g0023 a0001c0006t0001g0015 a0001c0007t0001g0119	21	178	0.1180	-36	c.444 others(55): Show c.444+43478_444+43513delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAPGEF6_chr5_131418921_131640229	131516045	CCTTTTTT others(29): Show CCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02630.hp1 NA20129.hp1 HG01081.hp1 HG02630.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0018 a0001c0001t0004 a0001c0001t0007 a0001c0001t0018	a0001c0001t0004g0127 a0001c0001t0007g0277 a0001c0001t0018g0278 a0001c0001t0004g0127 a0001c0001t0007g0277 a0001c0001t0018g0278	3	324	0.0093	-36	c.627 others(53): Show c.627+5309_627+5344delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAG	RAPGEF6	ENSG00000158987.22	transcript	ENST00000509018.6	protein_coding	7/27			chr5	TogoVar
RARRES1_chr3_158691892_158737457	158730365	CTCCTTCC others(29): Show CTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00735.hp2 others(60): Show HG00323.hp1 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01257.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG02109.hp1 HG02129.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03579.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp1 NA19043.hp1 NA19068.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0002c0008 a0007c0011 a0002c0002 a0002c0008 a0007c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(3): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0008t0001 a0002c0008t0003 a0007c0011t0001	a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0014 others(52): Show a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0002g0011 a0002c0002t0002g0065 a0002c0002t0002g0071 a0002c0002t0003g0013 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0008t0001g0055 a0002c0008t0003g0054 a0002c0008t0003g0073 a0007c0011t0001g0042	63	380	0.1658	-36	c.276 others(53): Show c.276+1739_276+1774delAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGA	RARRES1	ENSG00000118849.10	transcript	ENST00000237696.10	protein_coding	1/5			chr3	TogoVar
RARS1_chr5_168481471_168524301	168483832	ATATCATT others(29): Show ATATCATTTCAACTATAAACTAAATTTTCCACAAAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18981.hp1 NA19058.hp1 NA18964.hp1 NA18981.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278	3	394	0.0076	-36	c.-26 others(47): Show c.-2666_-2631delTATCATTTCAACTATAAACTAAATTTTCCACAAA GT	RARS1	ENSG00000113643.9	transcript	ENST00000231572.8	protein_coding		2638		chr5	TogoVar
RASA3_chr13_113972783_114137623	114005908	CGCCACCT others(29): Show CGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCTGG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	67	0.0149	-36	c.174 others(55): Show c.1742+1589_1742+1624delCCAGCAGGGCAGGAGTGGGGAGAAGG GTAAGGTGGC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114006113	ACTCCTGC others(29): Show ACTCCTGCCCTGCTGGATGCCACCTTACCCTTCTCCC	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	67	0.0149	-36	c.174 others(55): Show c.1742+1384_1742+1419delGGGAGAAGGGTAAGGTGGCATCCAGC AGGGCAGGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114007167	ACCACCTT others(29): Show ACCACCTTACCCTTCTCCCCTCCTGCCCTGCCGGACG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0025 a0001c0002t0002g0025	1	67	0.0149	-36	c.174 others(53): Show c.1742+330_1742+365delCGTCCGGCAGGGCAGGAGGGGAGAAGGG TAAGGTGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114014027	TCTCTCCG others(29): Show TCTCTCCGTCTCTATCTCTCTCTCCGTCTGTCTCTGC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04228.hp2 HG02738.hp1 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0015 a0001c0005t0001g0016	2	67	0.0299	-36	c.140 others(53): Show c.1406-815_1406-780delGCAGAGACAGACGGAGAGAGAGATAGAG ACGGAGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	14/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114034870	CTAGAGCA others(29): Show CTAGAGCAGAAGGGAGATCTGAACGCTGACCTGAGCT	C C	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18973.hp2 NA18971.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0036 a0001c0002t0002g0004 a0001c0002t0002g0036	2	67	0.0299	-36	c.373 others(53): Show c.373-5019_373-4984delAGCTCAGGTCAGCGTTCAGATCTCCCTT CTGCTCTA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	4/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044427	GCCCCCCC others(29): Show GCCCCCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18971.hp1 NA18954.hp2 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0021 a0001c0003t0003g0030 a0001c0003t0003g0021 a0001c0003t0003g0030	2	67	0.0299	-36	c.278 others(53): Show c.278-3369_278-3334delGGGGAGCTCAGCGAGTGAGGCGGGGCGG GGGGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114119927	GATCAGGG others(29): Show GATCAGGGCCCTCCCTCCTCTCTCCAGCCAGGCGTCC	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	67	0.0149	-36	c.55+ others(53): Show c.55+12472_55+12507delGGACGCCTGGCTGGAGAGAGGAGGGAGG GCCCTGAT	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114120012	TCCTCTCT others(29): Show TCCTCTCTCCAGCCAGACGTCGGTCAGGGCCCCTCCC	T T	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18975.hp1 NA18973.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0002g0032 a0001c0001t0001g0045 a0001c0001t0002g0032	2	67	0.0299	-36	c.55+ others(53): Show c.55+12387_55+12422delGGGAGGGGCCCTGACCGACGTCTGGCTG GAGAGAGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASGRF1_chr15_78954906_79095780	79059964	TCACACAC others(29): Show TCACACACACACACACACAGACACACAGACACACACA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0209 a0001c0002t0001g0209	1	314	0.0032	-36	c.384 others(53): Show c.384-1519_384-1484delTGTGTGTGTCTGTGTGTCTGTGTGTGTG TGTGTGTG	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	2/26			chr15	TogoVar
RASGRF2_chr5_80955363_81235162	81169914	CGTCACCT others(29): Show CGTCACCTGCATCACCTGTACCACCTGTATCACCCAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG02257.hp1 HG02717.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0015 a0001c0002 a0003c0015	a0001c0002t0003 a0003c0015t0001 a0001c0002t0003 a0003c0015t0001	a0001c0002t0003g0118 a0003c0015t0001g0002 a0001c0002t0003g0118 a0003c0015t0001g0002	2	276	0.0073	-36	c.268 others(57): Show c.2687-10260_2687-10225delGTCACCTGCATCACCTGTACCACC TGTATCACCCAT	RASGRF2	ENSG00000113319.13	transcript	ENST00000265080.9	protein_coding	17/26			chr5	TogoVar

Search by Variant

Search

Search Results (Total: 3870 hits)