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
RAB40B_chr17_82649973_82703698	82699411	GTATGTGT others(39): Show GTATGTGTCTGCGTGTGCATGTGTCCCTCTGCAGGTGTCTGCACATC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA20129.hp2 HG01884.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0326 a0001c0001t0007g0325 a0001c0001t0002g0326 a0001c0001t0007g0325	2	336	0.0060	-46	c.-86 others(55): Show c.-861_-816delGATGTGCAGACACCTGCAGAGGGACACATGCACACG CAGACACATA	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding		714		chr17	TogoVar
RAB44_chr6_36692826_36738184	36734313	CAGAGAGA others(39): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18975.hp2 NA18955.hp1 NA18975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0321 a0001c0002t0003g0323 a0001c0002t0003g0321 a0001c0002t0003g0323	2	158	0.0127	-46	c.22 others(57): Show c.2221_*2266delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAG	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1130		chr6	TogoVar
RABGAP1L_chr1_174154520_175000308	174327956	AATATATA others(39): Show AATATATATATATATATATATATACACACACATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	249	0.0040	-46	c.146 others(67): Show c.1465+22854_1465+22899delACACACATATATATATATATATAT ATATATATATATATATATATAC	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RABGAP1_chr9_122936020_123109866	123057110	CCCCCCAC others(39): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02723.hp2 HG00639.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0048 a0001c0001t0039 a0001c0001t0048	a0001c0001t0039g0234 a0001c0001t0048g0233 a0001c0001t0039g0234 a0001c0001t0048g0233	2	256	0.0078	-46	c.179 others(65): Show c.1795-8217_1795-8172delGGGGCGGCTGGCCTGGCGGGGGCTGA CCCCCACCTCCCTCCCGGAC	RABGAP1	ENSG00000011454.18	transcript	ENST00000373647.9	protein_coding	13/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RABL2B_chr22_50762506_50788636	50788342	GAGTTGGA others(39): Show GAGTTGGACAAAGGAGCCCTTGTTACTGCACGTTTTCATTCTTCAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0157 a0001c0006t0001g0157	1	474	0.0021	-46	c.-49 others(57): Show c.-4941_-4896delTTTGAAGAATGAAAACGTGCAGTAACAAGGGCTC CTTTGTCCAACT	RABL2B	ENSG00000079974.19	transcript	ENST00000691320.1	protein_coding		4707		chr22	TogoVar
RAD51D_chr17_35087221_35124860	35110876	GCGGGCGA others(39): Show GCGGGCGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACA	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0365 a0001c0002t0003g0365	1	414	0.0024	-46	c.264 others(63): Show c.264-3475_264-3430delTGTTGGCCAGGCTGGTCTTGAACTCCTG ACCTCAGGTGATCGCCCG	RAD51D	ENSG00000185379.21	transcript	ENST00000345365.11	protein_coding	3/9			chr17	TogoVar
RAI14_chr5_34651328_34837612	34760071	CGGCTCAC others(39): Show CGGCTCACTGCAACCTCCGCCAGGCTGGAGTACAGTGGCGTGATCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02055.hp1 others(16): Show HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0011 others(3): Show a0001c0001 a0001c0003 a0001c0011 a0002c0002 a0002c0007 a0002c0024	a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0003 a0001c0011t0004 a0002c0002t0002 a0002c0007t0006 a0002c0024t0018	a0001c0001t0001g0015 a0001c0001t0001g0117 a0001c0001t0001g0165 others(16): Show a0001c0001t0001g0015 a0001c0001t0001g0117 a0001c0001t0001g0165 a0001c0001t0001g0184 a0001c0001t0003g0210 a0001c0001t0003g0233 a0001c0003t0003g0014 a0001c0003t0003g0018 a0001c0003t0003g0150 a0001c0003t0003g0152 a0001c0003t0003g0153 a0001c0003t0003g0196 a0001c0011t0004g0102 a0001c0011t0004g0126 a0002c0002t0002g0118 a0002c0002t0002g0247 a0002c0007t0006g0019 a0002c0007t0006g0246 a0002c0024t0018g0139	19	252	0.0754	-46	c.167 others(63): Show c.167+2490_167+2535delCGCCAGGCTGGAGTACAGTGGCGTGATC TTGGCTCACTGCAACCTC	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RALGDS_chr9_133092722_133126240	133099605	TATATACA others(39): Show TATATACACACACATATACATGCATATATATACACATATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0210 a0001c0006t0001g0210	1	422	0.0024	-46	c.256 others(63): Show c.2569+617_2569+662delGTATGTATATATGTGTATATATATGCAT GTATATGTGTGTGTATAT	RALGDS	ENSG00000160271.16	transcript	ENST00000372050.8	protein_coding	17/17			chr9	TogoVar
RANBP17_chr5_170857018_171305015	171012032	ATATTTGT others(39): Show ATATTTGTTTAAACAAATTATATTATTTGTTTAAACGAATATATTGT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	192	0.0052	-46	c.171 others(67): Show c.1710+43657_1710+43702delATTTGTTTAAACAAATTATATTAT TTGTTTAAACGAATATATTGTT	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAP1GAP2_chr17_2791438_3042741	2978910	GGGCAACA others(39): Show GGGCAACAAGAGCGAAACTCTGTCTCAAATAAATAAATAAATAAATA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01081.hp2 HG01099.hp2 others(41): Show HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01243.hp1 HG01358.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01978.hp2 HG01981.hp2 HG02056.hp1 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02896.hp2 HG02970.hp1 HG02976.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp2 NA18522.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18990.hp2 NA18999.hp1 NA19043.hp1 NA19066.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0013 a0001c0016 a0001c0022 a0001c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(37): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0034 a0001c0001t0036 a0001c0001t0050 a0001c0001t0053 a0001c0001t0062 a0001c0001t0066 a0001c0001t0077 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0096 a0001c0001t0139 a0001c0002t0002 a0001c0002t0005 a0001c0002t0094 a0001c0002t0104 a0001c0004t0001 a0001c0004t0015 a0001c0005t0023 a0001c0005t0105 a0001c0005t0120 a0001c0005t0127 a0001c0007t0012 a0001c0007t0040 a0001c0009t0045 a0001c0009t0137 a0001c0010t0016 a0001c0010t0056 a0001c0010t0057 a0001c0013t0124 a0001c0016t0128 a0001c0022t0033 a0001c0023t0067	a0001c0001t0002g0189 a0001c0001t0003g0091 a0001c0001t0003g0097 others(41): Show a0001c0001t0002g0189 a0001c0001t0003g0091 a0001c0001t0003g0097 a0001c0001t0003g0197 a0001c0001t0004g0210 a0001c0001t0010g0136 a0001c0001t0010g0140 a0001c0001t0018g0181 a0001c0001t0018g0194 a0001c0001t0021g0172 a0001c0001t0022g0180 a0001c0001t0034g0157 a0001c0001t0036g0165 a0001c0001t0050g0121 a0001c0001t0053g0069 a0001c0001t0062g0215 a0001c0001t0066g0038 a0001c0001t0077g0006 a0001c0001t0080g0048 a0001c0001t0081g0145 a0001c0001t0082g0023 a0001c0001t0096g0049 a0001c0001t0139g0045 a0001c0002t0002g0116 a0001c0002t0005g0156 a0001c0002t0094g0117 a0001c0002t0104g0080 a0001c0004t0001g0025 a0001c0004t0015g0163 a0001c0005t0023g0111 a0001c0005t0105g0212 a0001c0005t0120g0147 a0001c0005t0127g0072 a0001c0007t0012g0179 a0001c0007t0040g0015 a0001c0009t0045g0200 a0001c0009t0137g0016 a0001c0010t0016g0089 a0001c0010t0056g0018 a0001c0010t0057g0090 a0001c0013t0124g0076 a0001c0016t0128g0191 a0001c0022t0033g0177 a0001c0023t0067g0009	44	216	0.2037	-46	c.597 others(63): Show c.597-1346_597-1301delAATAAATAAATAAATAGGCAACAAGAGC GAAACTCTGTCTCAAATA	RAP1GAP2	ENSG00000132359.17	transcript	ENST00000254695.13	protein_coding	8/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
RASA3_chr13_113972783_114137623	114052659	ACTTAGAG others(39): Show ACTTAGAGTCCTCGCTCCTGGGGGAGAGGCCCCCGCTGCTGACTGTG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	66	0.0152	-46	c.174 others(61): Show c.174-550_174-505delCACAGTCAGCAGCGGGGGCCTCTCCCCCAG GAGCGAGGACTCTAAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	2/23			chr13	TogoVar
RBBP5_chr1_205081142_205126978	205093473	AAAAAAAA others(39): Show AAAAAAAATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0158 a0001c0001t0005g0158	1	382	0.0026	-46	c.158 others(65): Show c.1588+1354_1588+1399delATATATATATATATATATATATATAT ATATATATATATATTTTTTT	RBBP5	ENSG00000117222.14	transcript	ENST00000264515.11	protein_coding	13/13			chr1	TogoVar
RBBP9_chr20_18481540_18502225	18486157	AATATATA others(39): Show AATATATATATATGTAAATATAAATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0025 a0001c0001t0019g0025	1	171	0.0058	-46	c.35 others(57): Show c.3561_*3606delATATATATATATATATATATATATTTATATTTAC ATATATATATAT	RBBP9	ENSG00000089050.16	transcript	ENST00000337227.9	protein_coding		382		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6487688	AAAAAAAA others(39): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	59	0.0169	-46	c.-63 others(67): Show c.-63-166913_-63-166868delAAAAAAAAAAAATATATATATATA TATATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79582095	CGTGCCTG others(39): Show CGTGCCTGCCCGTGTATGTGCCTGTGCGTGCCTGTGTATGCATGCAT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	152	0.0066	-46	c.-32 others(67): Show c.-320+28685_-320+28730delATGCATGCATACACAGGCACGCAC AGGCACATACACGGGCAGGCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RCN3_chr19_49523003_49548633	49544591	TCAGAGAG others(39): Show TCAGAGAGAGAGGGACAGAGACCCAGAGAGAGAGGGGAACAGAGACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0026	-46	c.13 others(57): Show c.1379_*1424delCAGAGAGAGAGGGACAGAGACCCAGAGAGAGAGG GGAACAGAGACC	RCN3	ENSG00000142552.8	transcript	ENST00000270645.8	protein_coding		959		chr19	TogoVar
RCVRN_chr17_9891320_9910271	9908028	CAGAGGCC others(39): Show CAGAGGCCTCGGCCCCTTGCTCTGAGCCACTAGTAGGGGGCGACTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	478	0.0021	-46	c.-28 others(57): Show c.-2894_-2849delCCAGTCGCCCCCTACTAGTGGCTCAGAGCAAGGG GCCGAGGCCTCT	RCVRN	ENSG00000109047.8	transcript	ENST00000226193.6	protein_coding		2758		chr17	TogoVar
REG3G_chr2_79020702_79033501	79031050	CTCAGATC others(39): Show CTCAGATCTATTTAAAGAGTGTTTAAAAAAGTCATAAAAAAGTTAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	462	0.0022	-46	c.27 others(57): Show c.2775_*2820delTCAGATCTATTTAAAGAGTGTTTAAAAAAGTCAT AAAAAAGTTAAA	REG3G	ENSG00000143954.13	transcript	ENST00000272324.10	protein_coding		2550		chr2	TogoVar
RELL1_chr4_37605634_37691376	37669188	GGGGGTCA others(39): Show GGGGGTCAGCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02572.hp1 HG02970.hp1 others(2): Show HG01167.hp1 HG02572.hp1 HG02970.hp1 HG03130.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0016 a0001c0001t0018	a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0010g0035 others(2): Show a0001c0001t0001g0017 a0001c0001t0001g0034 a0001c0001t0010g0035 a0001c0001t0016g0026 a0001c0001t0018g0020	5	321	0.0156	-46	c.88+ others(63): Show c.88+16966_88+17011delACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCAGGGGGCTGACCCC	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
REM1_chr20_31470288_31489895	31471318	CCCCCCAC others(39): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01361.hp1 HG01891.hp1 others(4): Show HG01167.hp1 HG01361.hp1 HG01891.hp1 HG02486.hp2 HG02970.hp1 HG02970.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0062 a0002c0002t0001g0063 others(2): Show a0002c0002t0001g0020 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0065 a0002c0002t0001g0071	7	342	0.0205	-46	c.-42 others(57): Show c.-4267_-4222delCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGCTGA	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		3969		chr20	TogoVar
RERE_chr1_8347404_8822640	8646055	ACTCAAAT others(39): Show ACTCAAATGTGAAACACCTGAACCTGAGTCTACCTAACAACAAAGCT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(157): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00741.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0016 a0001c0018 a0001c0019 a0001c0022 a0002c0006 a0002c0026 a0002c0027 a0003c0008 a0004c0012 a0005c0013 a0006c0021 a0007c0025 a0008c0020 a0009c0017	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(59): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0023 a0001c0001t0030 a0001c0001t0031 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0013 a0001c0002t0018 a0001c0002t0028 a0001c0002t0032 a0001c0003t0004 a0001c0003t0008 a0001c0003t0011 a0001c0003t0012 a0001c0003t0015 a0001c0003t0017 a0001c0004t0001 a0001c0004t0003 a0001c0004t0005 a0001c0004t0006 a0001c0004t0010 a0001c0004t0014 a0001c0004t0022 a0001c0004t0025 a0001c0004t0027 a0001c0004t0040 a0001c0005t0009 a0001c0005t0019 a0001c0005t0026 a0001c0005t0034 a0001c0007t0001 a0001c0007t0003 a0001c0007t0004 a0001c0009t0004 a0001c0009t0041 a0001c0010t0007 a0001c0010t0013 a0001c0011t0007 a0001c0015t0001 a0001c0016t0020 a0001c0018t0001 a0001c0019t0014 a0001c0022t0008 a0002c0006t0003 a0002c0006t0024 a0002c0026t0008 a0002c0027t0003 a0003c0008t0001 a0004c0012t0008 a0005c0013t0021 a0005c0013t0029 a0006c0021t0003 a0007c0025t0007 a0008c0020t0039 a0009c0017t0003	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0014 others(157): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0121 a0001c0001t0003g0124 a0001c0001t0003g0141 a0001c0001t0006g0184 a0001c0001t0016g0053 a0001c0001t0023g0114 a0001c0001t0030g0143 a0001c0001t0031g0144 a0001c0001t0036g0194 a0001c0001t0037g0196 a0001c0001t0038g0195 a0001c0002t0002g0157 a0001c0002t0005g0110 a0001c0002t0005g0113 a0001c0002t0005g0116 a0001c0002t0005g0125 a0001c0002t0005g0128 a0001c0002t0005g0129 a0001c0002t0005g0130 a0001c0002t0005g0131 a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0002t0005g0136 a0001c0002t0006g0145 a0001c0002t0013g0052 a0001c0002t0018g0073 a0001c0002t0028g0133 a0001c0002t0032g0155 a0001c0003t0004g0006 a0001c0003t0004g0010 a0001c0003t0004g0011 a0001c0003t0004g0013 a0001c0003t0004g0016 a0001c0003t0004g0018 a0001c0003t0004g0020 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0067 a0001c0003t0004g0078 a0001c0003t0008g0085 a0001c0003t0008g0105 a0001c0003t0011g0096 a0001c0003t0011g0108 a0001c0003t0011g0112 a0001c0003t0012g0017 a0001c0003t0012g0021 a0001c0003t0015g0147 a0001c0003t0017g0031 a0001c0004t0001g0001 a0001c0004t0001g0048 a0001c0004t0003g0092 a0001c0004t0003g0109 a0001c0004t0005g0079 a0001c0004t0005g0083 a0001c0004t0005g0122 a0001c0004t0006g0146 a0001c0004t0010g0107 a0001c0004t0010g0119 a0001c0004t0010g0142 a0001c0004t0014g0126 a0001c0004t0022g0120 a0001c0004t0025g0080 a0001c0004t0027g0106 a0001c0004t0040g0199 a0001c0005t0009g0200 a0001c0005t0009g0201 a0001c0005t0009g0202 a0001c0005t0009g0203 a0001c0005t0009g0204 a0001c0005t0019g0029 a0001c0005t0026g0127 a0001c0005t0034g0156 a0001c0007t0001g0007 a0001c0007t0003g0084 a0001c0007t0003g0098 a0001c0007t0003g0099 a0001c0007t0004g0043 a0001c0007t0004g0046 a0001c0009t0004g0015 a0001c0009t0004g0019 a0001c0009t0041g0198 a0001c0010t0007g0025 a0001c0010t0007g0033 a0001c0010t0013g0023 a0001c0011t0007g0026 a0001c0011t0007g0027 a0001c0011t0007g0028 a0001c0015t0001g0008 a0001c0016t0020g0004 a0001c0018t0001g0003 a0001c0019t0014g0123 a0001c0022t0008g0082 a0002c0006t0003g0088 a0002c0006t0003g0089 a0002c0006t0003g0090 a0002c0006t0003g0094 a0002c0006t0003g0097 a0002c0006t0003g0139 a0002c0006t0024g0081 a0002c0026t0008g0140 a0002c0027t0003g0086 a0003c0008t0001g0005 a0003c0008t0001g0030 a0003c0008t0001g0070 a0003c0008t0001g0071 a0004c0012t0008g0137 a0004c0012t0008g0138 a0005c0013t0021g0022 a0005c0013t0029g0111 a0006c0021t0003g0135 a0007c0025t0007g0024 a0008c0020t0039g0197 a0009c0017t0003g0101	160	202	0.7921	-46	c.325 others(63): Show c.325+9872_325+9917delAGCTTTGTTGTTAGGTAGACTCAGGTTC AGGTGTTTCACATTTGAG	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	2/22			chr1	TogoVar
RFTN1_chr3_16310845_16518699	16403928	TTATATTT others(39): Show TTATATTTATATATAATATATAATATATATTTTATATATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	169	0.0059	-46	c.441 others(63): Show c.441+5401_441+5446delTATAATATATATATAAAATATATATTAT ATATTATATATAAATATA	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RGL3_chr19_11389060_11424314	11424228	TGGCTGTG others(39): Show TGGCTGTGGCTCACGCCTTTAATTCCAGTACTTTAGGAGGCTGAGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0002 a0006c0009t0002	a0006c0009t0002g0082 a0006c0009t0002g0082	1	400	0.0025	-46	c.-49 others(57): Show c.-4996_-4951delGCCTCAGCCTCCTAAAGTACTGGAATTAAAGGCG TGAGCCACAGCC	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding		4915		chr19	TogoVar
RGPD2_chr2_87750960_87830796	87825373	GGCCGCCG others(39): Show GGCCGCCGCCGCCGCCGCCGCCGCCCGGCCAGGCCGAGGCCGAGGCC	G G	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0077 a0001c0004t0001g0077	1	167	0.0060	-46	c.72+ others(59): Show c.72+239_72+284delGGCCTCGGCCTCGGCCTGGCCGGGCGGCGGCG GCGGCGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS13_chr1_192631147_192665311	192641208	GAAAGAAA others(39): Show GAAAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA19065.hp2 NA18999.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0147 a0001c0001t0003g0003 a0001c0001t0003g0147	2	417	0.0048	-46	c.-5+ others(61): Show c.-5+3019_-5+3064delGAGAAAGAAAGAAAGAAAGAAAGAAAAGAA AGAAAAGAAAGAAAGA	RGS13	ENSG00000127074.15	transcript	ENST00000391995.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS17_chr6_152999459_153136282	153053922	TATGTATA others(39): Show TATGTATATATATGTATATATAATATATATACATATATATTATATAC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0167 a0001c0001t0019g0167	1	307	0.0033	-46	c.-25 others(63): Show c.-25-9925_-25-9880delGTATATAATATATATGTATATATATTAT ATATACATATATATACAT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS22_chr8_99955936_100111049	100051621	ATATAAAT others(39): Show ATATAAATATATATTTATATATGTTTATACATATATAAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01261.hp2 HG02300.hp2 others(11): Show HG01074.hp1 HG01261.hp2 HG02300.hp2 HG02683.hp1 HG02683.hp2 HG03098.hp1 HG03239.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 NA18960.hp1 NA19009.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0135 others(11): Show a0001c0001t0001g0029 a0001c0001t0001g0097 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0293 a0001c0001t0001g0301	14	308	0.0455	-46	c.168 others(65): Show c.1689+1135_1689+1180delAATATATATTTATATATGTATAAACA TATATAAATATATATTTATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27			chr8	TogoVar
RGS7_chr1_240770514_241362205	241310422	AGTGTATG others(39): Show AGTGTATGTGTGTCTGTGTGTGTGAGTGTGTGTGTGTGAGAGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp1 HG02809.hp1 others(2): Show HG00639.hp1 HG02055.hp1 HG02809.hp1 HG03540.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0066 a0001c0001t0001g0087 a0001c0001t0002g0073 others(2): Show a0001c0001t0001g0066 a0001c0001t0001g0087 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0106	5	112	0.0446	-46	c.78+ others(63): Show c.78+45231_78+45276delACACACTCTCACACACACACACTCACAC ACACAGACACACATACAC	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHAG_chr6_49600175_49641839	49636406	ACAAAAGG others(39): Show ACAAAAGGCATCAATTATTTTAATTTTCAGCTTCTTGTTCTGATATT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0211 a0005c0008t0002g0211	1	398	0.0025	-46	c.157 others(61): Show c.157+204_157+249delAATATCAGAACAAGAAGCTGAAAATTAAAA TAATTGATGCCTTTTG	RHAG	ENSG00000112077.18	transcript	ENST00000371175.10	protein_coding	1/9			chr6	TogoVar
RHBDF1_chr16_53059_77631	67987	CCGGCCCC others(39): Show CCGGCCCCAGGAACCTCCCCAGGACTGTCTCAGCCGGGGACCACAGT	C C	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	396	0.0025	-46	c.-24 others(63): Show c.-24-2994_-24-2949delACTGTGGTCCCCGGCTGAGACAGTCCTG GGGAGGTTCCTGGGGCCG	RHBDF1	ENSG00000007384.15	transcript	ENST00000262316.10	protein_coding	1/17			chr16	TogoVar
RHOC_chr1_112696131_112712127	112706454	CACACACA others(39): Show CACACACACACCACACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp2 HG03130.hp2 others(6): Show HG01175.hp2 HG01981.hp2 HG03130.hp2 HG03195.hp1 NA18960.hp1 NA18970.hp1 NA19057.hp1 NA19089.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0040 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0046	9	233	0.0386	-46	c.-77 others(61): Show c.-77+578_-77+623delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGGTGTGTGTGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOC_chr1_112696131_112712127	112706456	CACACACA others(39): Show CACACACACCACACACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	410	0.0024	-46	c.-77 others(61): Show c.-77+576_-77+621delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGGTGTGTGT	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOQ_chr2_46537490_46589688	46546473	TGTGTATA others(39): Show TGTGTATATATATATATATATATATATATATATATATATGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG01109.hp2 others(28): Show HG00323.hp1 HG00597.hp1 HG01109.hp2 HG01884.hp2 HG02055.hp1 HG02071.hp1 HG02155.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03579.hp2 NA18953.hp1 NA18979.hp1 NA18982.hp1 NA18987.hp1 NA18999.hp1 NA19043.hp1 NA19054.hp2 NA19068.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0004t0018	a0001c0001t0001g0008 a0001c0001t0001g0196 a0001c0001t0001g0197 others(27): Show a0001c0001t0001g0008 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0253 a0001c0001t0001g0259 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0156 a0001c0001t0004g0068 a0001c0001t0005g0083 a0001c0001t0005g0184 a0001c0001t0005g0264 a0001c0001t0005g0266 a0001c0001t0007g0007 a0001c0001t0007g0198 a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0007g0206 a0001c0001t0007g0207 a0001c0001t0007g0271 a0001c0001t0008g0157 a0001c0001t0010g0280 a0001c0001t0010g0281 a0001c0001t0010g0292 a0001c0001t0011g0013 a0001c0004t0018g0279	31	330	0.0939	-46	c.201 others(63): Show c.201+2662_201+2707delGTGTATATATATATATATATATATATAT ATATATATATGTATATAC	RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	2/4			chr2	TogoVar
RHOXF1_chrX_120104051_120120913	120112389	TATATGTA others(39): Show TATATGTATGATATATATACATATATGTATTATATATAATACACATA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02896.hp1 HG02897.hp1 others(3): Show HG01496.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03453.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0051 a0001c0001t0001g0052 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0057	6	318	0.0189	-46	c.444 others(61): Show c.444+434_444+479delTATGTGTATTATATATAATACATATATGTA TATATATCATACATAT	RHOXF1	ENSG00000101883.6	transcript	ENST00000217999.3	protein_coding	2/2			chrX	TogoVar
RMDN2_chr2_37920287_38022744	37963980	GGGCGGGG others(39): Show GGGCGGGGGCTGCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCT	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18939.hp2 NA19007.hp1 others(2): Show HG02074.hp2 NA18939.hp2 NA19007.hp1 NA19064.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0054 a0001c0001t0010g0055 a0001c0001t0010g0056 others(2): Show a0001c0001t0010g0054 a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0010g0057 a0001c0001t0010g0058	5	326	0.0153	-46	c.453 others(64): Show c.453-10026_453-9981delGGGCGGCTGGCCTGGCGGGGGCTGCCC CCCACCTCCCTCCCGGACG	RMDN2	ENSG00000115841.21	transcript	ENST00000354545.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF115_chr1_145733868_145829095	145764728	GGCCAGCT others(39): Show GGCCAGCTGCCCCATCCAGGAGGGAGGTGGGGGCCAGCCCCCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	270	0.0037	-46	c.428 others(63): Show c.428+6937_428+6982delTGGGCGGGGGCTGGCCCCCACCTCCCTC CTGGATGGGGCAGCTGGC	RNF115	ENSG00000265491.5	transcript	ENST00000582693.5	protein_coding	4/8			chr1	TogoVar
RNF126_chr19_642526_668214	650105	AGGCTGGG others(39): Show AGGCTGGGGATGGGGACAGGCACCCCCTCCTACTCACCAGGGACCCT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG01978.hp2 others(4): Show HG01243.hp1 HG01891.hp2 HG01978.hp2 HG02258.hp2 HG03225.hp1 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0065 a0001c0002t0001g0068 a0001c0002t0003g0066 others(4): Show a0001c0001t0001g0065 a0001c0002t0001g0068 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0069 a0001c0002t0003g0380 a0001c0002t0003g0406	7	420	0.0167	-46	c.506 others(60): Show c.506+83_506+128delAGGGTCCCTGGTGAGTAGGAGGGGGTGCCTG TCCCCATCCCCAGCC	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding	5/8			chr19	TogoVar
RNF126_chr19_642526_668214	667393	GCCCAGGT others(39): Show GCCCAGGTGGACCACGTCCCAGGCGGACCACGTCCCAGGCGGACCAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0240 a0001c0001t0003g0240	1	328	0.0030	-46	c.-43 others(57): Show c.-4318_-4273delTTGGTCCGCCTGGGACGTGGTCCGCCTGGGACGT GGTCCACCTGGG	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4180		chr19	TogoVar
RNF13_chr3_149808215_149967139	149835857	CCCCAGTA others(39): Show CCCCAGTACTGGGATTGCTGGATTCCCAGTACTGGGATTGCTGGATT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp1 HG01243.hp1 others(10): Show HG00280.hp2 HG01106.hp1 HG01243.hp1 HG02145.hp1 HG02280.hp1 HG02698.hp2 HG02809.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp2 NA18999.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0238 a0001c0002t0003g0237 a0001c0002t0003g0253 others(10): Show a0001c0001t0001g0238 a0001c0002t0003g0237 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0263	13	253	0.0514	-46	c.-16 others(65): Show c.-16-10131_-16-10086delTCCCAGTACTGGGATTGCTGGATTCC CAGTACTGGGATTGCTGGAT	RNF13	ENSG00000082996.20	transcript	ENST00000392894.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RNF212_chr4_1066478_1118564	1079028	AACATGGG others(39): Show AACATGGGACCAACATAGAGTCAACACAGGACCAACATGGGACCAAC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03491.hp1 HG03710.hp2 others(2): Show HG02040.hp1 HG03491.hp1 HG03710.hp2 HG04204.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0005g0043 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0104 a0001c0001t0005g0043 a0001c0001t0005g0046 a0001c0001t0005g0047	5	404	0.0124	-46	c.510 others(61): Show c.510+569_510+614delGTTGGTCCCATGTTGGTCCTGTGTTGACTC TATGTTGGTCCCATGT	RNF212	ENSG00000178222.14	transcript	ENST00000433731.7	protein_coding	8/9			chr4	TogoVar
RNF213_chr17_80255852_80403794	80313445	GTGGTGGT others(39): Show GTGGTGGTGGTGGTAGAGGTGATGGTGGTGGAGGTGATGGTGATGGT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02630.hp2 HG02965.hp1 HG00733.hp2 HG02630.hp2 HG02965.hp1	a0023 a0028 a0040 a0023 a0028 a0040	a0023c0112 a0028c0080 a0040c0093 a0023c0112 a0028c0080 a0040c0093	a0023c0112t0030 a0028c0080t0030 a0040c0093t0001 a0023c0112t0030 a0028c0080t0030 a0040c0093t0001	a0023c0112t0030g0276 a0028c0080t0030g0290 a0040c0093t0001g0101 a0023c0112t0030g0276 a0028c0080t0030g0290 a0040c0093t0001g0101	3	290	0.0103	-46	c.281 others(63): Show c.2811+292_2811+337delAGAGGTGATGGTGGTGGAGGTGATGGTG ATGGTTGGTGGTGGTGGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF214_chr11_117227671_117291454	117251373	CGGGGGGC others(39): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCT	C C	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	358	0.0028	-46	c.959 others(63): Show c.959+4428_959+4473delGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCTGG	RNF214	ENSG00000167257.11	transcript	ENST00000300650.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
RORA_chr15_60483284_61234302	60816069	ATAAACAG others(39): Show ATAAACAGTATATGTATACTGTAAACAGTATATGTATTTATATACTG	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0087 a0001c0001t0043g0087	1	109	0.0092	-46	c.167 others(67): Show c.167-137429_167-137384delCAGTATATAAATACATATACTGTT TACAGTATACATATACTGTTTA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RP2_chrX_46832043_46887358	46847733	TATACACA others(39): Show TATACACACATATGTGTGTGTGTATATACACACATGTGTGTGTGTAC	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18957.hp2 NA19011.hp2 others(2): Show NA18945.hp1 NA18957.hp2 NA19011.hp2 NA19066.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0069 a0001c0001t0002g0006 a0001c0001t0002g0069	5	272	0.0184	-46	c.103 others(63): Show c.103-5732_103-5687delATGTGTGTGTGTATATACACACATGTGT GTGTGTACATACACACAT	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPF2_chr6_110977038_111033263	111017392	CGGAGACG others(39): Show CGGAGACGCTCCTCACTTCCCAGACGGGGCGGCTGCCGGATGGGGGG	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	358	0.0028	-46	c.596 others(63): Show c.596+1538_596+1583delGAGACGCTCCTCACTTCCCAGACGGGGC GGCTGCCGGATGGGGGGG	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPS10_chr6_34412454_34431069	34421036	AGTTGAAT others(39): Show AGTTGAATCCTATTATTCCTTTGCAAAAATACTAACAAAAGCTCCAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	388	0.0026	-46	c.400 others(61): Show c.400+648_400+693delGTGGAGCTTTTGTTAGTATTTTTGCAAAGG AATAATAGGATTCAAC	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding	4/5			chr6	TogoVar
RPS6KA5_chr14_90842861_91065641	91044346	AGAAAGAA others(39): Show AGAAAGAAAGAAAGAAAGAGAAAGAAAGAAGGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG01123.hp1 others(26): Show HG00099.hp1 HG00597.hp2 HG01123.hp1 HG01258.hp1 HG01358.hp2 HG01934.hp2 HG02056.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG03239.hp1 HG03453.hp2 HG03704.hp2 NA18942.hp2 NA18952.hp1 NA18957.hp1 NA18990.hp1 NA18992.hp1 NA19010.hp1 NA19012.hp2 NA19043.hp1 NA19062.hp2 NA19068.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 others(24): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0023 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0053 a0001c0001t0060 a0001c0001t0063 a0001c0001t0067 a0001c0001t0074 a0001c0001t0077 a0001c0001t0094 a0001c0001t0156 a0001c0001t0212 a0001c0001t0213 a0001c0001t0214 a0001c0001t0215 a0001c0001t0231 a0001c0001t0232 a0001c0001t0237 a0001c0001t0245 a0001c0001t0246 a0001c0006t0071	a0001c0001t0006g0091 a0001c0001t0007g0089 a0001c0001t0009g0019 others(26): Show a0001c0001t0006g0091 a0001c0001t0007g0089 a0001c0001t0009g0019 a0001c0001t0009g0066 a0001c0001t0015g0087 a0001c0001t0017g0102 a0001c0001t0023g0027 a0001c0001t0034g0025 a0001c0001t0034g0076 a0001c0001t0035g0001 a0001c0001t0040g0096 a0001c0001t0053g0014 a0001c0001t0060g0092 a0001c0001t0063g0067 a0001c0001t0067g0098 a0001c0001t0074g0072 a0001c0001t0077g0101 a0001c0001t0094g0131 a0001c0001t0156g0195 a0001c0001t0212g0070 a0001c0001t0213g0074 a0001c0001t0214g0077 a0001c0001t0215g0069 a0001c0001t0231g0120 a0001c0001t0232g0212 a0001c0001t0237g0012 a0001c0001t0245g0127 a0001c0001t0246g0126 a0001c0006t0071g0115	29	304	0.0954	-46	c.103 others(65): Show c.103+15940_103+15985delCTTCTTTCTTTCTTTCCTTCTTTCTT TCTCTTTCTTTCTTTCTTTC	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPTOR_chr17_80539838_80971368	80665484	TTTCCTTT others(39): Show TTTCCTTTCCTTTCCTTTCCATGTCCTTTCCTTTCCTTTCCATGTCC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0073 a0001c0048t0073	a0001c0048t0073g0144 a0001c0048t0073g0144	1	193	0.0052	-46	c.348 others(65): Show c.348+21677_348+21722delCCTTTCCTTTCCTTTCCATGTCCTTT CCTTTCCTTTCCATGTCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963426	CTGCGGCC others(39): Show CTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0063 a0001c0006t0063	a0001c0006t0063g0160 a0001c0006t0063g0160	1	74	0.0135	-46	c.393 others(63): Show c.3939+392_3939+437delCTGCGGCCCTCACCCCGTCCCCTGTGCG GCCCTCACCCCGTCCCCT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963633	CTGCGTCC others(39): Show CTGCGTCCCTCACCCCGTCCCCTCTGCGTCCCTCACCCCGTCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0063 a0001c0006t0063	a0001c0006t0063g0160 a0001c0006t0063g0160	1	80	0.0125	-46	c.393 others(63): Show c.3939+581_3940-579delTCCCTCACCCCGTCCCCTCTGCGTCCCT CACCCCGTCCCCTGTGCG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

Search by Variant

Search

Search Results