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
RC3H1_chr1_173926084_174027357	173950420	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00673.hp1 others(4): Show HG00140.hp2 HG00544.hp1 HG00673.hp1 HG02132.hp1 HG02572.hp2 NA18943.hp2 NA19055.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0023 a0001c0001t0047 others(3): Show a0001c0001t0003 a0001c0001t0023 a0001c0001t0047 a0001c0001t0097 a0001c0001t0105 a0002c0003t0036	a0001c0001t0003g0057 a0001c0001t0023g0026 a0001c0001t0023g0029 others(4): Show a0001c0001t0003g0057 a0001c0001t0023g0026 a0001c0001t0023g0029 a0001c0001t0047g0031 a0001c0001t0097g0017 a0001c0001t0105g0056 a0002c0003t0036g0099	7	310	0.0226	18	c.252 others(37): Show c.2523+1548_2523+1565dupTTTTTTTTTTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	14/19			chr1	TogoVar
RC3H1_chr1_173926084_174027357	174003385	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0104 a0002c0003t0018g0104	1	310	0.0032	18	c.-15 others(39): Show c.-150-10268_-150-10251dupTGTGTGTGTGTGTGTGTG	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	1/19			chr1	TogoVar
RC3H1_chr1_173926084_174027357	174017783	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0291 a0001c0001t0077g0291	1	310	0.0032	18	c.-15 others(37): Show c.-151+4295_-151+4312dupTTTTTTTTTTTTTTTTTT	RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	1/19			chr1	TogoVar
RC3H2_chr9_122839556_122910359	122866485	G G	GGCTCACT others(11): Show GGCTCACTGCAACCTCCCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0023 a0001c0001t0001g0034	2	320	0.0063	18	c.132 others(35): Show c.1326-846_1326-829dupAGGGAGGTTGCAGTGAGC	RC3H2	ENSG00000056586.16	transcript	ENST00000357244.7	protein_coding	9/20			chr9	TogoVar
RCAN1_chr21_34511442_34620113	34556429	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02738.hp2 HG03490.hp2 others(3): Show HG02040.hp2 HG02738.hp2 HG03490.hp2 NA18971.hp2 NA19066.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 others(3): Show a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0260 a0001c0001t0001g0287	6	378	0.0159	18	c.253 others(37): Show c.253-32737_253-32720dupATTATTATTATTATTATT	RCAN1	ENSG00000159200.18	transcript	ENST00000313806.9	protein_coding	1/3			chr21	TogoVar
RCAN2_chr6_46215736_46496449	46367022	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03471.hp2 HG00609.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0027 a0001c0001t0005g0056 a0001c0001t0002g0027 a0001c0001t0005g0056	2	158	0.0127	18	c.225 others(37): Show c.225+89712_225+89729dupATATATATATATATATAT	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCBTB1_chr13_49526946_49590558	49564994	G G	GTCCCGCT others(11): Show GTCCCGCTCCCGCTCCCAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp2 HG01884.hp1 others(7): Show HG01074.hp1 HG01243.hp2 HG01884.hp1 HG02145.hp2 HG02258.hp1 HG02886.hp2 HG03041.hp2 HG03225.hp1 HG03486.hp2 HG03540.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0003 a0002c0005t0002 a0002c0005t0003	a0002c0005t0002g0074 a0002c0005t0002g0075 a0002c0005t0002g0139 others(7): Show a0002c0005t0002g0074 a0002c0005t0002g0075 a0002c0005t0002g0139 a0002c0005t0002g0153 a0002c0005t0002g0310 a0002c0005t0002g0351 a0002c0005t0003g0140 a0002c0005t0003g0141 a0002c0005t0003g0142 a0002c0005t0003g0192	10	418	0.0239	18	c.277 others(35): Show c.277+1606_277+1623dupATGGGAGCGGGAGCGGGA	RCBTB1	ENSG00000136144.12	transcript	ENST00000378302.7	protein_coding	4/12			chr13	TogoVar
RCBTB1_chr13_49526946_49590558	49565676	G G	GGGAGGTG others(11): Show GGGAGGTGAGGAGCATCTC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG01070.hp2 others(125): Show HG00558.hp1 HG00621.hp2 HG01070.hp2 HG01109.hp1 HG01109.hp2 HG01255.hp2 HG01257.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18939.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp1 NA19000.hp1 NA19009.hp2 NA19012.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19075.hp1 NA19076.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0006 a0002c0007 others(8): Show a0002c0002 a0002c0006 a0002c0007 a0002c0008 a0002c0010 a0002c0013 a0002c0017 a0002c0018 a0002c0019 a0002c0020 a0003c0016	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(17): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0008 a0002c0002t0011 a0002c0006t0002 a0002c0006t0006 a0002c0006t0007 a0002c0007t0002 a0002c0007t0003 a0002c0007t0006 a0002c0008t0008 a0002c0010t0002 a0002c0013t0004 a0002c0017t0002 a0002c0018t0002 a0002c0019t0003 a0002c0020t0002 a0003c0016t0004	a0002c0002t0001g0054 a0002c0002t0001g0176 a0002c0002t0002g0004 others(121): Show a0002c0002t0001g0054 a0002c0002t0001g0176 a0002c0002t0002g0004 a0002c0002t0002g0017 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0037 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0062 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0002g0144 a0002c0002t0002g0151 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0400 a0002c0002t0003g0016 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0162 a0002c0002t0003g0190 a0002c0002t0004g0028 a0002c0002t0004g0064 a0002c0002t0004g0065 a0002c0002t0004g0066 a0002c0002t0004g0067 a0002c0002t0004g0069 a0002c0002t0004g0158 a0002c0002t0004g0159 a0002c0002t0004g0160 a0002c0002t0004g0161 a0002c0002t0004g0163 a0002c0002t0004g0164 a0002c0002t0004g0165 a0002c0002t0004g0166 a0002c0002t0004g0168 a0002c0002t0004g0169 a0002c0002t0004g0170 a0002c0002t0004g0171 a0002c0002t0004g0172 a0002c0002t0004g0173 a0002c0002t0004g0174 a0002c0002t0004g0175 a0002c0002t0004g0177 a0002c0002t0004g0178 a0002c0002t0004g0180 a0002c0002t0004g0181 a0002c0002t0004g0182 a0002c0002t0004g0183 a0002c0002t0004g0184 a0002c0002t0004g0185 a0002c0002t0004g0186 a0002c0002t0004g0187 a0002c0002t0004g0188 a0002c0002t0004g0205 a0002c0002t0004g0206 a0002c0002t0004g0207 a0002c0002t0004g0208 a0002c0002t0004g0209 a0002c0002t0004g0210 a0002c0002t0004g0211 a0002c0002t0004g0263 a0002c0002t0004g0347 a0002c0002t0008g0053 a0002c0002t0008g0063 a0002c0002t0011g0145 a0002c0002t0011g0191 a0002c0006t0002g0288 a0002c0006t0006g0008 a0002c0006t0006g0009 a0002c0006t0006g0284 a0002c0006t0006g0285 a0002c0006t0006g0286 a0002c0006t0006g0287 a0002c0006t0007g0283 a0002c0007t0002g0056 a0002c0007t0003g0005 a0002c0007t0003g0031 a0002c0007t0003g0055 a0002c0007t0003g0147 a0002c0007t0006g0146 a0002c0007t0006g0148 a0002c0007t0006g0150 a0002c0008t0008g0076 a0002c0008t0008g0105 a0002c0008t0008g0106 a0002c0008t0008g0107 a0002c0008t0008g0154 a0002c0010t0002g0232 a0002c0010t0002g0255 a0002c0013t0004g0256 a0002c0017t0002g0179 a0002c0018t0002g0042 a0002c0019t0003g0143 a0002c0020t0002g0071 a0003c0016t0004g0167	128	418	0.3062	18	c.277 others(33): Show c.277+941_277+942insGAGATGCTCCTCACCTCC	RCBTB1	ENSG00000136144.12	transcript	ENST00000378302.7	protein_coding	4/12			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48493225	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02559.hp1 others(6): Show HG01243.hp2 HG01884.hp1 HG02559.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp2 HG03471.hp1 NA18522.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0001c0011 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0004t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0004 a0001c0008t0013 a0001c0011t0002 a0002c0006t0001	a0001c0001t0001g0281 a0001c0001t0002g0049 a0001c0004t0004g0013 others(5): Show a0001c0001t0001g0281 a0001c0001t0002g0049 a0001c0004t0004g0013 a0001c0004t0004g0235 a0001c0004t0004g0236 a0001c0008t0013g0052 a0001c0011t0002g0267 a0002c0006t0001g0300	9	320	0.0281	18	c.151 others(37): Show c.1515+2948_1515+2965dupTGTGTGTGTGTGTGTGTG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48493311	A A	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03669.hp2 HG04204.hp2 others(6): Show HG00642.hp2 HG03669.hp2 HG04204.hp2 NA18945.hp1 NA18952.hp2 NA18978.hp2 NA19004.hp2 NA19006.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0094 others(6): Show a0001c0001t0001g0082 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0108 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0233	9	320	0.0281	18	c.151 others(37): Show c.1515+2879_1515+2880insAGAGAGAGAGAGAGAGAG	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	14/14			chr13	TogoVar
RCBTB2_chr13_48483963_48538080	48499111	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03098.hp2 HG03453.hp2 others(3): Show HG02970.hp1 HG03098.hp2 HG03453.hp2 NA18995.hp1 NA20752.hp1 NA20905.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0010 a0001c0001 a0001c0007 a0003c0010	a0001c0001t0001 a0001c0007t0001 a0003c0010t0001 a0001c0001t0001 a0001c0007t0001 a0003c0010t0001	a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0279 others(3): Show a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0279 a0001c0007t0001g0275 a0001c0007t0001g0276 a0003c0010t0001g0043	6	320	0.0188	18	c.138 others(35): Show c.1384+492_1384+509dupGTGTGTGTGTGTGTGTGT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	13/14			chr13	TogoVar
RCC1L_chr7_75037183_75078802	75072155	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01261.hp1 HG01346.hp1 others(11): Show HG01069.hp2 HG01261.hp1 HG01346.hp1 HG02015.hp2 HG02615.hp2 HG03453.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03688.hp1 HG03831.hp1 NA18612.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0193 a0002c0002t0002g0006 a0002c0002t0002g0012 others(7): Show a0001c0001t0002g0193 a0002c0002t0002g0006 a0002c0002t0002g0012 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084	14	270	0.0519	18	c.324 others(35): Show c.324+1258_324+1259insATATATATATATATATAT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCC1L_chr7_75037183_75078802	75072161	C C	CATATACA others(11): Show CATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	270	0.0037	18	c.324 others(35): Show c.324+1252_324+1253insATATATATATATGTATAT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCC1L_chr7_75037183_75078802	75072161	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp1 NA19240.hp2 HG02723.hp1 HG02818.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0121 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0001g0121 a0001c0001t0002g0198 a0001c0001t0002g0199	3	270	0.0111	18	c.324 others(35): Show c.324+1235_324+1252dupATATATATATATATATAT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCC1L_chr7_75037183_75078802	75072191	T T	TATATATA others(11): Show TATATATATATATATATGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	270	0.0037	18	c.324 others(35): Show c.324+1222_324+1223insCCATATATATATATATAT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	294	0.0034	18	c.52 others(29): Show c.5232_*5233insAAAAAAATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	294	0.0034	18	c.52 others(29): Show c.5232_*5233insAAAAATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAATATA others(11): Show AAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG03041.hp1 HG00741.hp2 HG01167.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0231 a0001c0002t0001g0003 a0001c0002t0003g0060 a0001c0001t0001g0231 a0001c0002t0001g0003 a0001c0002t0003g0060	3	294	0.0102	18	c.52 others(29): Show c.5232_*5233insAAATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA19240.hp1 HG03471.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0208 a0001c0002t0001g0004 a0001c0001t0004g0208 a0001c0002t0001g0004	2	294	0.0068	18	c.52 others(29): Show c.5232_*5233insATATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC2_chr1_17401760_17444677	17431333	C C	CAAAAAAA others(11): Show CAAAAAAAAATAAAAAATA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0313 a0001c0001t0007g0313	1	390	0.0026	18	c.286 others(35): Show c.286-2135_286-2134insTATTTTTTATTTTTTTTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0165 a0001c0001t0008g0165	1	390	0.0026	18	c.286 others(35): Show c.286-2161_286-2160insATATATATATATTTTTTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp2 HG02257.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0148 a0001c0002t0002g0343 a0001c0002t0002g0148 a0001c0002t0002g0343	2	390	0.0051	18	c.286 others(35): Show c.286-2161_286-2160insATATATATATATATATTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	390	0.0026	18	c.286 others(35): Show c.286-2178_286-2161dupATATATATATATATATAT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487796	C C	CATAATAT others(11): Show CATAATATATATATTCATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA20805.hp1 HG03710.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0195 a0001c0001t0001g0018 a0001c0001t0001g0195	2	406	0.0049	18	c.657 others(35): Show c.657+2784_657+2785insTATGAATATATATATTAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCL1_chr9_4787944_4866066	4806036	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02735.hp2 HG01496.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0317 a0001c0001t0006g0319 a0001c0001t0004g0317 a0001c0001t0006g0319	2	386	0.0052	18	c.136 others(37): Show c.136+12818_136+12819insGTGTGTGTTTGTGTGTGT	RCL1	ENSG00000120158.12	transcript	ENST00000381750.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
RCL1_chr9_4787944_4866066	4806038	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03130.hp2 NA19030.hp2 HG02145.hp2 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0343 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0343	3	386	0.0078	18	c.136 others(37): Show c.136+12818_136+12819insGTGTGTGTGTTTGTGTGT	RCL1	ENSG00000120158.12	transcript	ENST00000381750.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
RCN2_chr15_76926749_76959393	76953593	A A	ATATATAT others(11): Show ATATATATATATATATATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0008 a0001c0001t0104g0008	1	422	0.0024	18	c.43 others(29): Show c.4372_*4373insATATATATATATATATTT	RCN2	ENSG00000117906.14	transcript	ENST00000394885.8	protein_coding	7/7	4373	INFO_REALIGN_3_PRIME	chr15	TogoVar
RCN2_chr15_76926749_76959393	76958247	T T	TCACACAC others(11): Show TCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0150 a0001c0001t0135g0150	1	422	0.0024	18	c.90 others(29): Show c.9025_*9026insCACACACACACACACACA	RCN2	ENSG00000117906.14	transcript	ENST00000394885.8	protein_coding		3855		chr15	TogoVar
RCN2_chr15_76926749_76959393	76958247	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0106 a0001c0001t0106	a0001c0001t0106g0133 a0001c0001t0106g0133	1	422	0.0024	18	c.90 others(29): Show c.9025_*9026insCTCACACACACACACACA	RCN2	ENSG00000117906.14	transcript	ENST00000394885.8	protein_coding		3855		chr15	TogoVar
RCSD1_chr1_167625232_167713696	167627369	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG00642.hp2 others(23): Show HG00438.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01123.hp2 HG01175.hp2 HG01361.hp1 HG01516.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp2 HG02572.hp2 HG02735.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 NA18973.hp1 NA18979.hp2 NA18994.hp2 NA19000.hp2 NA19001.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0048	a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0054 others(23): Show a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0222 a0001c0001t0001g0316 a0001c0001t0003g0037 a0001c0001t0003g0053 a0001c0001t0003g0133 a0001c0001t0003g0161 a0001c0001t0006g0098 a0001c0001t0009g0213 a0001c0001t0011g0042 a0001c0001t0011g0043 a0001c0001t0011g0100 a0001c0001t0048g0102	26	350	0.0743	18	c.-30 others(29): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding		2862		chr1	TogoVar
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02698.hp2 HG03669.hp2 others(1): Show HG02257.hp2 HG02698.hp2 HG03669.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0038 a0001c0001t0003g0037 a0001c0001t0003g0039 others(1): Show a0001c0001t0001g0038 a0001c0001t0003g0037 a0001c0001t0003g0039 a0001c0001t0007g0036	4	350	0.0114	18	c.6+3 others(29): Show c.6+307_6+324dupAAAAAAAAAAAAAAAAAA	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCSD1_chr1_167625232_167713696	167680448	C C	CTGTTTTT others(11): Show CTGTTTTTGTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03540.hp2 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0064 a0001c0001t0001g0033 a0001c0001t0001g0064	2	350	0.0057	18	c.7-3 others(31): Show c.7-3426_7-3409dupGTTTTTGTTTTTGTTTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCVRN_chr17_9891320_9910271	9900470	T T	TCTTCCTT others(11): Show TCTTCCTTTCTTTCCTAAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0136 a0001c0001t0043g0136	1	480	0.0021	18	c.493 others(33): Show c.493+501_493+518dupGTTAGGAAAGAAAGGAAG	RCVRN	ENSG00000109047.8	transcript	ENST00000226193.6	protein_coding	2/2			chr17	TogoVar
RD3L_chr14_103935426_103947529	103939743	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG04228.hp1 HG02723.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	440	0.0046	18	c.10 others(29): Show c.1045_*1062dupAAAAAAAAAAAAAAAAAA	RD3L	ENSG00000227729.5	transcript	ENST00000557640.2	protein_coding		682		chr14	TogoVar
RDX_chr11_110224441_110301614	110267515	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	376	0.0027	18	c.97- others(33): Show c.97-2659_97-2642dupGTGTGTGTGTGTGTGTGT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	3/13			chr11	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 NA18983.hp1 NA19000.hp1 others(2): Show HG01981.hp2 NA18983.hp1 NA19000.hp1 NA19060.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 a0001c0001t0003 a0001c0001t0005 a0001c0001t0021	a0001c0001t0003g0108 a0001c0001t0005g0304 a0001c0001t0005g0305 others(2): Show a0001c0001t0003g0108 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0021g0214	5	376	0.0133	18	c.-65 others(35): Show c.-65+6493_-65+6510dupTTTTTTTTTTTTTTTTTT	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
REC114_chr15_73438164_73565013	73462884	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18974.hp1 NA18981.hp2 HG00438.hp1 NA18974.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0001g0176 a0001c0001t0002g0177 a0001c0001t0002g0178	3	188	0.0160	18	c.160 others(37): Show c.160-10942_160-10925dupAAAAAAAAAAAAAAAAAA	REC114	ENSG00000183324.11	transcript	ENST00000331090.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
REC114_chr15_73438164_73565013	73496258	A A	AGGAGAAA others(11): Show AGGAGAAATGCTTGAACCC	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	188	0.0053	18	c.249 others(37): Show c.249+22340_249+22357dupAGAAATGCTTGAACCCGG	REC114	ENSG00000183324.11	transcript	ENST00000331090.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
RECK_chr9_36031913_36129455	36048126	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02132.hp1 HG02622.hp1 others(4): Show HG01496.hp1 HG02132.hp1 HG02622.hp1 NA18967.hp1 NA19030.hp1 NA19083.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0005 others(1): Show a0001c0001 a0001c0007 a0002c0005 a0002c0011	a0001c0001t0001 a0001c0007t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0001c0007t0001 a0002c0005t0001 a0002c0011t0001	a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0315 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0315 a0001c0001t0001g0319 a0001c0007t0001g0346 a0002c0005t0001g0238 a0002c0011t0001g0277	7	392	0.0179	18	c.101 others(35): Show c.101-4122_101-4105dupATATATATATATATATAT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36061393	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01361.hp1 HG02129.hp2 others(1): Show HG01257.hp2 HG01361.hp1 HG02129.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0044 a0001c0002t0001g0091 a0001c0002t0001g0097 others(1): Show a0001c0002t0001g0044 a0001c0002t0001g0091 a0001c0002t0001g0097 a0001c0002t0001g0208	4	392	0.0102	18	c.271 others(35): Show c.271+1266_271+1283dupCACACACACACACACACA	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36082152	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02071.hp2 HG02145.hp1 others(8): Show HG01261.hp1 HG02071.hp2 HG02145.hp1 NA18906.hp2 NA18940.hp2 NA18966.hp1 NA18971.hp1 NA18980.hp1 NA19011.hp1 NA19064.hp1 NA19083.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001	a0001c0001t0001g0291 a0001c0002t0001g0002 a0001c0002t0001g0003 others(8): Show a0001c0001t0001g0291 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0011 a0001c0002t0001g0088 a0001c0002t0001g0106 a0002c0003t0001g0223 a0002c0003t0001g0275 a0002c0005t0001g0224 a0002c0005t0001g0238 a0002c0005t0001g0249	11	392	0.0281	18	c.440 others(35): Show c.440-1194_440-1177dupTCTCTCTCTCTCTCTCTC	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
REEP1_chr2_86208993_86342626	86226075	T T	TCACCACC others(11): Show TCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0155 a0001c0001t0039g0155	1	320	0.0031	18	c.631 others(35): Show c.631+1270_631+1287dupGTGGTGGTGGTGGTGGTG	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	7/8			chr2	TogoVar
REEP1_chr2_86208993_86342626	86342181	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 NA19240.hp2 HG01106.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0085 a0001c0002t0002g0137 a0001c0001t0002g0085 a0001c0002t0002g0137	2	320	0.0063	18	c.-46 others(29): Show c.-4672_-4671insAAAAAAAAAAAAAAAAAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding		4556		chr2	TogoVar
REEP3_chr10_63516401_63630128	63606263	T T	TTTTCTTT others(11): Show TTTTCTTTCTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(132): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02015.hp2 HG02027.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18949.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18971.hp1 NA18972.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp1 NA19012.hp1 NA19054.hp1 NA19060.hp1 NA19067.hp1 NA19067.hp2 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0039 a0001c0001t0041 a0001c0001t0058 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0003t0009 a0002c0002t0031 a0003c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0036 a0001c0001t0001g0052 others(132): Show a0001c0001t0001g0006 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0250 a0001c0001t0001g0269 a0001c0001t0002g0058 a0001c0001t0002g0138 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0049 a0001c0001t0003g0054 a0001c0001t0003g0077 a0001c0001t0003g0097 a0001c0001t0003g0132 a0001c0001t0003g0135 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0152 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0164 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0188 a0001c0001t0003g0213 a0001c0001t0003g0228 a0001c0001t0003g0231 a0001c0001t0004g0146 a0001c0001t0004g0243 a0001c0001t0005g0008 a0001c0001t0005g0059 a0001c0001t0005g0106 a0001c0001t0005g0117 a0001c0001t0005g0129 a0001c0001t0005g0136 a0001c0001t0005g0153 a0001c0001t0005g0165 a0001c0001t0005g0166 a0001c0001t0005g0183 a0001c0001t0005g0184 a0001c0001t0005g0192 a0001c0001t0005g0230 a0001c0001t0005g0233 a0001c0001t0005g0268 a0001c0001t0009g0021 a0001c0001t0009g0127 a0001c0001t0009g0137 a0001c0001t0009g0151 a0001c0001t0009g0171 a0001c0001t0009g0177 a0001c0001t0011g0122 a0001c0001t0011g0131 a0001c0001t0011g0148 a0001c0001t0011g0191 a0001c0001t0011g0217 a0001c0001t0012g0046 a0001c0001t0018g0011 a0001c0001t0018g0134 a0001c0001t0018g0193 a0001c0001t0019g0232 a0001c0001t0019g0256 a0001c0001t0020g0047 a0001c0001t0020g0253 a0001c0001t0021g0259 a0001c0001t0029g0203 a0001c0001t0029g0204 a0001c0001t0030g0278 a0001c0001t0030g0279 a0001c0001t0031g0089 a0001c0001t0033g0015 a0001c0001t0033g0017 a0001c0001t0034g0053 a0001c0001t0034g0182 a0001c0001t0035g0012 a0001c0001t0035g0027 a0001c0001t0039g0079 a0001c0001t0041g0237 a0001c0001t0058g0215 a0001c0001t0065g0202 a0001c0001t0068g0091 a0001c0001t0069g0201 a0001c0001t0070g0205 a0001c0001t0072g0181 a0001c0001t0073g0189 a0001c0001t0074g0154 a0001c0001t0075g0145 a0001c0001t0076g0026 a0001c0003t0009g0206 a0002c0002t0031g0120 a0003c0004t0001g0175	135	284	0.4754	18	c.418 others(35): Show c.418-3915_418-3898dupTTTCTTTTTCTTTCTTTC	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP3_chr10_63516401_63630128	63622705	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0088 a0001c0001t0071g0088	1	284	0.0035	18	c.18 others(29): Show c.1839_*1856dupTTTTTTTTTTTTTTTTTT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	8/8	1857	INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP5_chr5_112871385_112927227	112893094	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0320 a0001c0001t0013g0320	1	340	0.0029	18	c.352 others(35): Show c.352-5929_352-5912dupTTTTTTTTTTTTTTTTTT	REEP5	ENSG00000129625.13	transcript	ENST00000379638.9	protein_coding	3/4			chr5	TogoVar
REEP6_chr19_1486181_1502927	1488858	G G	GGCATGAA others(11): Show GGCATGAACCACCACGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	318	0.0031	18	c.-24 others(29): Show c.-2412_-2411insGCATGAACCACCACGCCA	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2322		chr19	TogoVar
REEP6_chr19_1486181_1502927	1490902	C C	CCCCCCCC others(11): Show CCCCCCCCCCCCCCCCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	318	0.0031	18	c.-36 others(27): Show c.-368_-367insCCCCCCCCCCCCCCCCCG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		278		chr19	TogoVar
REEP6_chr19_1486181_1502927	1493708	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02258.hp1 HG02922.hp2 others(5): Show HG01169.hp1 HG02258.hp1 HG02922.hp2 HG03195.hp2 HG03471.hp1 NA18906.hp2 NA18947.hp1 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0002c0002t0002	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0061 others(5): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0140 a0001c0001t0004g0062 a0001c0001t0006g0064 a0002c0002t0002g0141	8	318	0.0252	18	c.116 others(35): Show c.116-1579_116-1562dupACACACACACACACACAC	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELA_chr11_65648601_65667916	65660475	A A	AGGACACT others(11): Show AGGACACTCATTCCCACCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00673.hp1 others(42): Show HG00544.hp1 HG00609.hp1 HG00673.hp1 HG01069.hp1 HG01081.hp2 HG01192.hp1 HG01361.hp2 HG01515.hp2 HG02083.hp1 HG02109.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03927.hp1 HG03942.hp1 NA18747.hp1 NA18945.hp2 NA18946.hp1 NA18954.hp2 NA18955.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18977.hp1 NA18995.hp1 NA19007.hp2 NA19009.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp2 NA19076.hp1 NA19077.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0026 others(6): Show a0001c0001t0001g0004 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0014g0051	45	404	0.1114	18	c.336 others(33): Show c.336-278_336-261dupAGGTGGGAATGAGTGTCC	RELA	ENSG00000173039.20	transcript	ENST00000406246.8	protein_coding	4/10			chr11	TogoVar

Search by Variant

Search

Search Results