Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RAB11FIP4_chr17_31386675_31543211	31445550	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	289	0.0035	-33	c.336 others(52): Show c.336+11430_336+11462delATATATATATATATATATATATATAT ATTTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445554	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0056 a0001c0001t0059g0056	1	296	0.0034	-33	c.336 others(52): Show c.336+11434_336+11466delATATATATATATATATATATATATTT TTTTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB2A_chr8_60511987_60628644	60543352	GAACTGTA others(26): Show GAACTGTACTCTCTATCCCTGTCTTCATTCACTT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00558.hp1 others(109): Show HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00735.hp2 HG00741.hp2 HG01099.hp1 HG01192.hp2 HG01243.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01943.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp2 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18993.hp1 NA18994.hp1 NA19002.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19055.hp2 NA19058.hp2 NA19067.hp1 NA19074.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0004 others(108): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0074 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0354 a0001c0001t0003g0355 a0001c0001t0003g0356 a0001c0001t0003g0357 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0079 a0001c0001t0004g0327 a0001c0001t0004g0328 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0014g0003 a0001c0001t0020g0353 a0001c0001t0022g0033 a0001c0001t0023g0021 a0001c0001t0025g0024	112	326	0.3436	-33	c.47- others(50): Show c.47-15433_47-15401delAACTGTACTCTCTATCCCTGTCTTCATT CACTT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB2A_chr8_60511987_60628644	60565676	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 HG01168.hp2 others(33): Show HG00438.hp1 HG00544.hp1 HG01168.hp2 HG01517.hp1 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 NA18747.hp2 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA18972.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 others(33): Show a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0339 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0343 a0001c0001t0004g0344 a0001c0001t0004g0345 a0001c0001t0004g0346 a0001c0001t0004g0347 a0001c0001t0004g0348 a0001c0001t0004g0349 a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0011g0146 a0001c0001t0011g0222	36	117	0.3077	-33	c.119 others(50): Show c.119-6350_119-6318delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
RAB3C_chr5_58578075_58864394	58627471	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	67	0.0149	-33	c.252 others(50): Show c.252+9617_252+9649delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAB40C_chr16_585066_634268	612179	AGGGACAG others(26): Show AGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18966.hp1 NA19001.hp1 HG01261.hp1 NA18966.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0255 a0001c0001t0002g0298 a0001c0001t0002g0237 a0001c0001t0002g0255 a0001c0001t0002g0298	3	294	0.0102	-33	c.143 others(50): Show c.143-5028_143-4996delGGGACAGCCGCCCTGGCCTGTAGAATCA AGAGC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5			chr16	TogoVar
RAB40C_chr16_585066_634268	612281	AGGGACAG others(26): Show AGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGC	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00741.hp1 HG01109.hp1 others(18): Show HG00673.hp2 HG00741.hp1 HG01109.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02148.hp2 HG02735.hp2 HG03490.hp1 HG03491.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG04204.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA18988.hp1 NA19000.hp1 NA19058.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0175 others(18): Show a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0175 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0276 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0302 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0330 a0001c0001t0009g0322	21	326	0.0644	-33	c.143 others(50): Show c.143-4926_143-4894delGGGACAGCCGCCCTGGCCTGTAGAATCA AGAGC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5			chr16	TogoVar
RAB40C_chr16_585066_634268	612315	AGGGACAG others(26): Show AGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp2 HG01361.hp2 others(1): Show HG00280.hp2 HG01071.hp2 HG01361.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0258 a0001c0001t0002g0268 others(1): Show a0001c0001t0002g0242 a0001c0001t0002g0258 a0001c0001t0002g0268 a0001c0001t0002g0305	4	331	0.0121	-33	c.143 others(50): Show c.143-4892_143-4860delGGGACAGCCGCCCTGGCCTGTAGAATCA AGAGC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5			chr16	TogoVar
RAB40C_chr16_585066_634268	612349	AGGGACAG others(26): Show AGGGACAGCCGCCCTGGCCTGTAGATTCAAGAGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	327	0.0031	-33	c.143 others(50): Show c.143-4858_143-4826delGGGACAGCCGCCCTGGCCTGTAGATTCA AGAGC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5			chr16	TogoVar
RAB4A_chr1_229266111_229310894	229302279	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	398	0.0025	-33	c.542 others(48): Show c.542-581_542-549delATATATATATATATATATATATATATATAT TTT	RAB4A	ENSG00000168118.12	transcript	ENST00000366690.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB5C_chr17_42119979_42159989	42144925	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19067.hp2 NA19063.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0126 a0001c0001t0001g0129	2	6	0.3333	-33	c.-89 others(50): Show c.-89+9935_-89+9967delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RAB5C	ENSG00000108774.15	transcript	ENST00000346213.9	protein_coding	1/5			chr17	TogoVar
RAB5IF_chr20_36600779_36617557	36609200	CACGCACA others(26): Show CACGCACACACGCACACACGCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0259 a0001c0001t0004g0259	1	396	0.0025	-33	c.219 others(48): Show c.219-400_219-368delACGCACACACGCACACACGCACACACACAC ACA	RAB5IF	ENSG00000101084.19	transcript	ENST00000344795.8	protein_coding	2/3			chr20	TogoVar
RABEP1_chr17_5277284_5391340	5282090	CCTCCCGC others(26): Show CCTCCCGCCGCGCTCCCTCCGCGCTCCCTCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0001t0011g0132 a0001c0001t0011g0133	2	306	0.0065	-33	c.-39 others(42): Show c.-396_-364delCTCCCGCCGCGCTCCCTCCGCGCTCCCTCCGCG	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding		193		chr17	TogoVar
RABEP1_chr17_5277284_5391340	5282096	GCCGCGCT others(26): Show GCCGCGCTCCCTCCGCGCTCCCTCCGCGCTCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00738.hp1 others(55): Show HG00438.hp1 HG00621.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01358.hp2 HG01496.hp2 HG01891.hp2 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02145.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02735.hp1 HG02886.hp2 HG02970.hp1 HG03017.hp2 HG03139.hp1 HG03209.hp2 HG03471.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG04184.hp2 NA18943.hp2 NA18954.hp2 NA18957.hp2 NA18964.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18990.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp1 NA19005.hp1 NA19011.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19083.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0007 a0001c0001t0032 others(14): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0032 a0001c0001t0043 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0002t0020 a0001c0003t0003 a0001c0003t0009 a0001c0003t0010 a0001c0003t0013 a0001c0004t0002 a0001c0004t0010 a0001c0004t0012 a0001c0005t0005 a0002c0006t0015	a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0106 others(54): Show a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0157 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0318 a0001c0001t0007g0309 a0001c0001t0007g0329 a0001c0001t0007g0330 a0001c0001t0007g0334 a0001c0001t0032g0241 a0001c0001t0043g0180 a0001c0002t0004g0117 a0001c0002t0004g0308 a0001c0002t0006g0127 a0001c0002t0006g0130 a0001c0002t0006g0143 a0001c0002t0006g0149 a0001c0002t0006g0155 a0001c0002t0006g0171 a0001c0002t0006g0332 a0001c0002t0008g0126 a0001c0002t0008g0141 a0001c0002t0008g0142 a0001c0002t0008g0151 a0001c0002t0008g0152 a0001c0002t0008g0153 a0001c0002t0008g0160 a0001c0002t0020g0161 a0001c0003t0003g0229 a0001c0003t0009g0003 a0001c0003t0009g0202 a0001c0003t0009g0209 a0001c0003t0009g0211 a0001c0003t0009g0220 a0001c0003t0009g0221 a0001c0003t0010g0001 a0001c0003t0010g0013 a0001c0003t0013g0177 a0001c0003t0013g0178 a0001c0004t0002g0156 a0001c0004t0002g0158 a0001c0004t0002g0245 a0001c0004t0002g0255 a0001c0004t0002g0256 a0001c0004t0002g0259 a0001c0004t0002g0261 a0001c0004t0010g0237 a0001c0004t0012g0168 a0001c0005t0005g0273 a0001c0005t0005g0274 a0001c0005t0005g0282 a0002c0006t0015g0315 a0002c0006t0015g0339 a0002c0006t0015g0340	58	164	0.3537	-33	c.-39 others(42): Show c.-390_-358delCCGCGCTCCCTCCGCGCTCCCTCCGCGCTCCCT	RABEP1	ENSG00000029725.17	transcript	ENST00000537505.6	protein_coding		187		chr17	TogoVar
RABGAP1L_chr1_174154520_175000308	174762649	GGAGTTGC others(26): Show GGAGTTGCTGGCACATAGTAGGCACTTAAATATT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0262 a0001c0002t0003g0262	1	272	0.0037	-33	c.221 others(54): Show c.2211+10296_2211+10328delGAGTTGCTGGCACATAGTAGGCAC TTAAATATT	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	18/25			chr1	TogoVar
RAD51B_chr14_67814779_68483093	67940046	ATATATAT others(26): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	78	0.0128	-33	c.756 others(52): Show c.756+52844_756+52876delATATATATTTTTTTTTTTTTTTTTTT TTTTTTT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51B_chr14_67814779_68483093	68456869	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	2	0.5000	-33	c.958 others(52): Show c.958-11283_958-11251delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAD51C_chr17_58687602_58740611	58717271	CCTATAGT others(26): Show CCTATAGTTCTAGCTAGTAGAACTTGTGCTTGAA	C C	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	328	0.0030	-33	c.838 others(50): Show c.838-3459_838-3427delGTAGAACTTGTGCTTGAACTATAGTTCT AGCTA	RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAD51D_chr17_35087221_35124860	35122174	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG02630.hp1 HG01358.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0182 a0001c0001t0008g0126 a0001c0001t0001g0182 a0001c0001t0008g0126	2	414	0.0048	-33	c.-25 others(44): Show c.-2594_-2562delATATATATATATATATATATATATATATATATA	RAD51D	ENSG00000185379.21	transcript	ENST00000345365.11	protein_coding		2315		chr17	TogoVar
RADIL_chr7_4792055_4888716	4802517	GACCCCCT others(26): Show GACCCCCTCTCTGGGCACCTCAGGGAATGCTGGC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01496.hp1 HG01496.hp2 others(10): Show HG01081.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG02257.hp2 HG02630.hp1 HG02647.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03540.hp1	a0006 a0007 a0026 a0006 a0007 a0026	a0006c0010 a0006c0059 a0006c0060 others(4): Show a0006c0010 a0006c0059 a0006c0060 a0007c0022 a0007c0043 a0007c0066 a0026c0052	a0006c0010t0007 a0006c0010t0023 a0006c0059t0038 others(6): Show a0006c0010t0007 a0006c0010t0023 a0006c0059t0038 a0006c0060t0007 a0007c0022t0028 a0007c0022t0053 a0007c0043t0046 a0007c0066t0044 a0026c0052t0039	a0006c0010t0007g0013 a0006c0010t0007g0099 a0006c0010t0007g0100 others(10): Show a0006c0010t0007g0013 a0006c0010t0007g0099 a0006c0010t0007g0100 a0006c0010t0007g0147 a0006c0010t0023g0124 a0006c0010t0023g0129 a0006c0059t0038g0115 a0006c0060t0007g0014 a0007c0022t0028g0177 a0007c0022t0053g0158 a0007c0043t0046g0135 a0007c0066t0044g0132 a0026c0052t0039g0011	13	290	0.0448	-33	c.250 others(50): Show c.2500-555_2500-523delGCCAGCATTCCCTGAGGTGCCCAGAGAG GGGGT	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding	11/14			chr7	TogoVar
RAI1_chr17_17676458_17816453	17808386	ATTATTTT others(26): Show ATTATTTTATTTTATTTTATTTTATTTTATTATT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0170 a0002c0003t0005g0170	1	238	0.0042	-33	c.566 others(50): Show c.5660-973_5660-941delATTTTATTTTATTTTATTTTATTTTATT TTATT	RAI1	ENSG00000108557.20	transcript	ENST00000353383.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
RALGAPB_chr20_38467843_38583858	38581600	CGAGAGTG others(26): Show CGAGAGTGAGTCCTAGAGTTTGAACCTAGAGTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02258.hp2 others(12): Show HG01109.hp1 HG02145.hp2 HG02258.hp2 HG02486.hp1 HG02622.hp1 HG02723.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG03139.hp2 HG03579.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0002 a0001c0003t0005 a0001c0003t0010 others(4): Show a0001c0002t0002 a0001c0003t0005 a0001c0003t0010 a0001c0003t0012 a0002c0004t0029 a0002c0004t0030 a0002c0004t0031	a0001c0002t0002g0128 a0001c0003t0005g0203 a0001c0003t0005g0204 others(11): Show a0001c0002t0002g0128 a0001c0003t0005g0203 a0001c0003t0005g0204 a0001c0003t0005g0205 a0001c0003t0005g0206 a0001c0003t0005g0208 a0001c0003t0005g0210 a0001c0003t0010g0201 a0001c0003t0010g0202 a0001c0003t0010g0209 a0001c0003t0012g0006 a0002c0004t0029g0008 a0002c0004t0030g0007 a0002c0004t0031g0009	15	214	0.0701	-33	c.66 others(44): Show c.6634_*6666delGAGAGTGAGTCCTAGAGTTTGAACCTAGAGTTT	RALGAPB	ENSG00000170471.15	transcript	ENST00000262879.11	protein_coding		2743		chr20	TogoVar
RAMP1_chr2_237854623_237917106	237916687	TGTGTGTG others(26): Show TGTGTGTGTGTGTTTGATTTTTGGTTTTGGGGGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	402	0.0025	-33	c.49 others(44): Show c.4905_*4937delGTGTGTGTGTGTTTGATTTTTGGTTTTGGGGGG	RAMP1	ENSG00000132329.11	transcript	ENST00000254661.5	protein_coding		4582		chr2	TogoVar
RANBP9_chr6_13616498_13716835	13632118	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp1 HG01255.hp1 others(7): Show HG00741.hp2 HG01243.hp1 HG01255.hp1 HG02622.hp2 HG02647.hp1 HG02976.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 NA18522.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0003 a0004c0007 a0001c0002 a0002c0003 a0004c0007	a0001c0002t0001 a0002c0003t0001 a0004c0007t0001 a0001c0002t0001 a0002c0003t0001 a0004c0007t0001	a0001c0002t0001g0070 a0001c0002t0001g0082 a0001c0002t0001g0084 others(7): Show a0001c0002t0001g0070 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0093 a0001c0002t0001g0094 a0002c0003t0001g0341 a0004c0007t0001g0095	10	14	0.7143	-33	c.194 others(50): Show c.1947+219_1947+251delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	RANBP9	ENSG00000010017.13	transcript	ENST00000011619.6	protein_coding	12/13			chr6	TogoVar
RAPGEF4_chr2_172730845_173057893	172857881	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	71	0.0141	-33	c.444 others(52): Show c.444+43481_444+43513delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	RAPGEF4	ENSG00000091428.18	transcript	ENST00000397081.8	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr2	TogoVar
RAPGEF6_chr5_131418921_131640229	131516046	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01109.hp1 HG01255.hp2 others(11): Show HG00673.hp2 HG01109.hp1 HG01255.hp2 HG01256.hp1 HG01516.hp1 HG02056.hp1 HG02486.hp1 NA18947.hp1 NA18949.hp1 NA18956.hp1 NA18964.hp2 NA18971.hp2 NA19001.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0101 a0001c0001t0002g0028 a0001c0001t0002g0045 others(11): Show a0001c0001t0001g0101 a0001c0001t0002g0028 a0001c0001t0002g0045 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0079 a0001c0001t0002g0086 a0001c0001t0002g0097 a0001c0001t0002g0108 a0001c0001t0002g0123 a0001c0001t0002g0264 a0001c0001t0004g0113 a0001c0001t0006g0030 a0001c0001t0006g0271	14	171	0.0819	-33	c.627 others(50): Show c.627+5311_627+5343delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	RAPGEF6	ENSG00000158987.22	transcript	ENST00000509018.6	protein_coding	7/27			chr5	TogoVar
RASA3_chr13_113972783_114137623	114120075	CCCCTCCC others(26): Show CCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGGG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03540.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0038 a0001c0001t0001g0039	2	66	0.0303	-33	c.55+ others(50): Show c.55+12327_55+12359delCCCTGATCGACGCCTGGCTGGAGAGAGG GAGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASGEF1C_chr5_180095795_180214211	180096368	CCCTTCCT others(26): Show CCCTTCCTGTCTTCCTTCCCTCCCTCCCTCCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0112 a0001c0002t0070g0112	1	367	0.0027	-33	c.51 others(44): Show c.5100_*5132delAAGGGAGGGAGGGAGGGAAGGAAGACAGGAAGG	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding		4426		chr5	TogoVar
RASGRP4_chr19_38404058_38431219	38422585	GGATCTAG others(26): Show GGATCTAGGCTGCGTGCTGTTTATGATGCCTGAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0136 a0002c0001t0001g0136	1	408	0.0025	-33	c.24- others(46): Show c.24-465_24-433delATCAGGCATCATAAACAGCACGCAGCCTAGAT C	RASGRP4	ENSG00000171777.17	transcript	ENST00000615439.5	protein_coding	1/16			chr19	TogoVar
RAVER1_chr19_10311212_10338529	10331360	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAATAACAACAAC	A A	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	436	0.0023	-33	c.220 others(48): Show c.220-867_220-835delGTTGTTGTTATTTTTTTTTTTTTTTTTTTT TTT	RAVER1	ENSG00000161847.15	transcript	ENST00000617231.5	protein_coding	1/12			chr19	TogoVar
RB1CC1_chr8_52617458_52719435	52698669	GGTTTTTT others(26): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(123): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02074.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA19011.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0002 a0001c0003 a0001c0004 others(6): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0012 a0002c0001 a0003c0008 a0006c0010 a0009c0011	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0004t0001 a0001c0006t0001 a0001c0012t0001 a0002c0001t0002 a0003c0008t0001 a0006c0010t0001 a0009c0011t0001	a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 others(113): Show a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0043 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0126 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0136 a0001c0002t0001g0141 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0003t0001g0001 a0001c0003t0001g0010 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0018 a0001c0003t0001g0044 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0083 a0001c0003t0001g0086 a0001c0003t0001g0088 a0001c0003t0001g0091 a0001c0003t0001g0092 a0001c0003t0001g0095 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0107 a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0174 a0001c0003t0001g0233 a0001c0003t0001g0243 a0001c0003t0001g0244 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0001g0250 a0001c0003t0001g0278 a0001c0003t0002g0251 a0001c0003t0008g0085 a0001c0004t0001g0032 a0001c0004t0001g0035 a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0273 a0001c0006t0001g0119 a0001c0006t0001g0120 a0001c0012t0001g0106 a0002c0001t0002g0197 a0003c0008t0001g0265 a0006c0010t0001g0100 a0009c0011t0001g0065	126	129	0.9767	-33	c.-16 others(54): Show c.-166-11735_-166-11703delAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAC	RB1CC1	ENSG00000023287.13	transcript	ENST00000025008.10	protein_coding	1/23			chr8	TogoVar
RB1_chr13_48298751_48486890	48323481	TTGATTTT others(26): Show TTGATTTTTCTTTATTTCTCTATTCTCTAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0294 a0005c0005t0001g0294	1	304	0.0033	-33	c.264 others(52): Show c.264+16077_264+16109delGATTTTTCTTTATTTCTCTATTCTCT AAAAAAT	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBFOX1_chr16_6014024_7718340	6350444	GAAAAAAA others(26): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	2	0.5000	-33	c.-64 others(52): Show c.-64+33410_-64+33442delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6487685	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	59	0.0169	-33	c.-63 others(54): Show c.-63-166916_-63-166884delAAAAAAAAAAAAAAATATATATAT ATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6487687	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0008 a0001c0001t0024g0008	1	64	0.0156	-33	c.-63 others(54): Show c.-63-166914_-63-166882delAAAAAAAAAAAAATATATATATAT ATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	6641746	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	68	0.0147	-33	c.-63 others(52): Show c.-63-12855_-63-12823delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79555498	GGTGGTGG others(26): Show GGTGGTGGTGGTGATGGTGGTGGTGATGGTAGTT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0031 a0001c0002t0007g0031	1	130	0.0077	-33	c.-32 others(54): Show c.-320+55295_-320+55327delAACTACCATCACCACCACCATCAC CACCACCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBM20_chr10_110639336_110844468	110747863	CTTTTAGA others(26): Show CTTTTAGAAAGTTTTCTTTCTGAAAGAGAAAACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(82): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01952.hp1 HG02040.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02293.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0010 a0013	a0001c0001 a0001c0003 a0002c0002 others(8): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0007 a0002c0008 a0002c0023 a0003c0005 a0007c0018 a0010c0024 a0013c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0003t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0019 a0002c0004t0001 a0002c0004t0003 a0002c0004t0005 a0002c0007t0006 a0002c0008t0006 a0002c0023t0009 a0003c0005t0005 a0003c0005t0006 a0007c0018t0003 a0010c0024t0001 a0013c0012t0001	a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0067 others(82): Show a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0144 a0001c0001t0001g0181 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0002g0059 a0001c0001t0002g0074 a0001c0001t0002g0083 a0001c0001t0002g0097 a0001c0001t0002g0105 a0001c0001t0002g0123 a0001c0001t0002g0185 a0001c0001t0002g0210 a0001c0001t0002g0226 a0001c0001t0004g0061 a0001c0001t0004g0065 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0081 a0001c0001t0004g0192 a0001c0001t0004g0199 a0001c0001t0013g0089 a0001c0001t0015g0095 a0001c0001t0016g0076 a0001c0001t0017g0066 a0001c0003t0002g0047 a0001c0003t0002g0057 a0002c0002t0001g0075 a0002c0002t0001g0084 a0002c0002t0001g0092 a0002c0002t0001g0099 a0002c0002t0001g0186 a0002c0002t0001g0200 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0003g0170 a0002c0002t0003g0207 a0002c0002t0003g0208 a0002c0002t0005g0093 a0002c0002t0007g0190 a0002c0002t0007g0252 a0002c0002t0008g0069 a0002c0002t0019g0002 a0002c0004t0001g0035 a0002c0004t0001g0037 a0002c0004t0001g0038 a0002c0004t0001g0040 a0002c0004t0001g0054 a0002c0004t0003g0042 a0002c0004t0005g0041 a0002c0007t0006g0043 a0002c0007t0006g0044 a0002c0008t0006g0254 a0002c0023t0009g0103 a0003c0005t0005g0184 a0003c0005t0005g0202 a0003c0005t0006g0260 a0007c0018t0003g0258 a0010c0024t0001g0187 a0013c0012t0001g0056	85	265	0.3208	-33	c.192 others(52): Show c.192-32900_192-32868delAGAAAGTTTTCTTTCTGAAAGAGAAA ACTTTTT	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM47_chr4_40418280_40634864	40592951	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0041 a0001c0006t0041	a0001c0006t0041g0068 a0001c0006t0041g0068	1	276	0.0036	-33	c.-24 others(54): Show c.-240+36412_-240+36444delAAAAATATATATATATATATATAT ATATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40592953	ATATATAT others(26): Show ATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0073 a0001c0001t0011g0073	1	265	0.0038	-33	c.-24 others(54): Show c.-240+36410_-240+36442delAAAAAAATATATATATATATATAT ATATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40592957	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp1 HG02257.hp1 others(3): Show HG01255.hp2 HG02109.hp1 HG02257.hp1 HG02486.hp1 HG02723.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0011	a0001c0001t0038 a0001c0003t0008 a0001c0004t0016 others(3): Show a0001c0001t0038 a0001c0003t0008 a0001c0004t0016 a0001c0004t0021 a0001c0006t0042 a0001c0011t0005	a0001c0001t0038g0099 a0001c0003t0008g0133 a0001c0004t0016g0131 others(3): Show a0001c0001t0038g0099 a0001c0003t0008g0133 a0001c0004t0016g0131 a0001c0004t0021g0034 a0001c0006t0042g0101 a0001c0011t0005g0100	6	262	0.0229	-33	c.-24 others(54): Show c.-240+36406_-240+36438delAAAAAAAAAAATATATATATATAT ATATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM8A_chr1_145916556_145932484	145923015	GGGTTCAG others(26): Show GGGTTCAGGTCATTCTCCTGCCTCAGCCTCCCGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0031 a0001c0001t0023g0031	1	380	0.0026	-33	c.28 others(44): Show c.2834_*2866delTCGGGAGGCTGAGGCAGGAGAATGACCTGAACC	RBM8A	ENSG00000265241.8	transcript	ENST00000583313.7	protein_coding	6/6	2834		chr1	TogoVar
RBMS1_chr2_160267151_160498807	160493539	CTCTTCCT others(26): Show CTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02886.hp2 HG02970.hp2 others(2): Show HG02257.hp2 HG02886.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0006 others(2): Show a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0006 a0001c0001t0007g0007 a0001c0001t0007g0008	5	326	0.0153	-33	c.-20 others(42): Show c.-209_-177delAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/14	177		chr2	TogoVar
RBPJL_chr20_45301840_45322824	45321852	CAGCCTGG others(26): Show CAGCCTGGGCAACAGAGCGAGACTGTCTAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0071 a0002c0004t0004g0071	1	444	0.0023	-33	c.48 others(44): Show c.4894_*4926delAGCCTGGGCAACAGAGCGAGACTGTCTAAAAAA	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		4029		chr20	TogoVar
RC3H2_chr9_122839556_122910359	122868863	GTGTGTGT others(26): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGT	G G	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG01978.hp2 others(1): Show HG01169.hp1 HG01169.hp2 HG01978.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 others(1): Show a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0003g0257	4	317	0.0126	-33	c.132 others(52): Show c.1326-3239_1326-3207delACACATACACACACACACACACACAC ACACACA	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RCC1_chr1_28501043_28543989	28533840	CTTTTCTT others(26): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02486.hp2 others(2): Show HG01069.hp2 HG01071.hp1 HG02486.hp2 HG03516.hp1 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0213 a0001c0004t0001g0214 others(1): Show a0001c0004t0001g0022 a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0215	5	281	0.0178	-33	c.442 others(50): Show c.442-1205_442-1173delCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCC1_chr1_28501043_28543989	28533845	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(77): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG02080.hp1 HG02109.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04204.hp2 NA18906.hp1 NA18939.hp2 NA18947.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18967.hp1 NA18993.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp1 NA19054.hp2 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19089.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(4): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0012	a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 others(64): Show a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0025 a0001c0002t0001g0027 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0039 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0059 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0085 a0001c0002t0001g0094 a0001c0002t0001g0177 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0216 a0001c0002t0002g0223 a0001c0002t0002g0226 a0001c0002t0003g0011 a0001c0002t0003g0040 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0047 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0003g0208 a0001c0002t0005g0056 a0001c0002t0005g0057 a0001c0002t0005g0058 a0001c0002t0005g0060 a0001c0002t0010g0055 a0001c0002t0012g0224	80	112	0.7143	-33	c.442 others(50): Show c.442-1187_442-1155delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCOR1_chr14_102587649_102735561	102653950	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0158 a0001c0001t0039g0158	1	290	0.0034	-33	c.362 others(52): Show c.362-27944_362-27912delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11			chr14	TogoVar
RD3_chr1_211471522_211497162	211483553	GAGAGTGG others(26): Show GAGAGTGGGACGAAAGGACGAACCATTAGACCCT	G G	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0135 a0001c0004t0014g0135	1	414	0.0024	-33	c.-11 others(50): Show c.-11-2160_-11-2128delAGGGTCTAATGGTTCGTCCTTTCGTCCC ACTCT	RD3	ENSG00000198570.7	transcript	ENST00000680073.1	protein_coding	1/2			chr1	TogoVar
RDH12_chr14_67696886_67739451	67730713	CCTGACTC others(26): Show CCTGACTCAGCCTCCTGAGTAGCTGGGATTACAG	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	432	0.0023	-33	c.848 others(50): Show c.848+1334_848+1366delCTGACTCAGCCTCCTGAGTAGCTGGGAT TACAG	RDH12	ENSG00000139988.10	transcript	ENST00000551171.6	protein_coding	8/8			chr14	TogoVar

Search by Variant

Search

Search Results