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
RTP5_chr2_241864729_241878823	241877608	C C	CCAGCTCC others(12): Show CCAGCTCCCCGGCCACCGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	364	0.0055	19	c.43 others(30): Show c.4334_*4335insCAGCTCCCCGGCCACCGCT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3786		chr2	TogoVar
RTTN_chr18_69998031_70210687	70184716	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0004 a0001c0010t0004	a0001c0010t0004g0133 a0001c0010t0004g0133	1	54	0.0185	19	c.130 others(38): Show c.1305+3391_1305+3392insCAAAAAAAAAAAAAAAAAA	RTTN	ENSG00000176225.15	transcript	ENST00000640769.2	protein_coding	10/48			chr18	TogoVar
RUFY1_chr5_179545554_179615012	179579657	C C	CTTCTTTT others(12): Show CTTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0015 a0001c0007t0001g0015	1	48	0.0208	19	c.891 others(36): Show c.891-1288_891-1287insCTTTTTTTTTTTTTTTTTT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY1_chr5_179545554_179615012	179579657	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG01069.hp2 others(20): Show HG00408.hp1 HG00438.hp2 HG01069.hp2 HG01071.hp1 HG01192.hp1 HG02015.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02257.hp2 HG02273.hp2 HG02300.hp2 NA18943.hp1 NA18962.hp1 NA18966.hp1 NA18970.hp2 NA18977.hp2 NA18978.hp1 NA18982.hp2 NA18985.hp1 NA19000.hp1 NA19004.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0056 others(20): Show a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0004t0003g0186 a0001c0004t0003g0188 a0001c0004t0003g0189 a0001c0004t0003g0214	23	70	0.3286	19	c.891 others(36): Show c.891-1286_891-1268dupTTTTTTTTTTTTTTTTTTT	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RUFY1_chr5_179545554_179615012	179612966	T T	TCAAGCCC others(12): Show TCAAGCCCCCATGTTTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01123.hp1 HG01175.hp1 others(49): Show HG00735.hp1 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01361.hp2 HG01516.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02074.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02486.hp2 HG02615.hp1 HG02683.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18939.hp1 NA18940.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp2 NA18974.hp2 NA18982.hp1 NA18986.hp2 NA18991.hp1 NA19030.hp2 NA19043.hp2 NA19070.hp2 NA19078.hp2 NA19081.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0006 a0001c0016t0001 a0001c0001t0001 a0001c0001t0006 a0001c0016t0001	a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0143 others(49): Show a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0143 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0258 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0006g0289 a0001c0016t0001g0299	52	374	0.1390	19	c.34 others(30): Show c.3447_*3448insCAAGCCCCCATGTTTGTCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		2955		chr5	TogoVar
RUFY2_chr10_68338408_68412277	68412218	T T	TTTTTTTG others(12): Show TTTTTTTGTTTTTGTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG02258.hp1 HG02683.hp1 others(4): Show HG00280.hp2 HG02258.hp1 HG02683.hp1 HG03491.hp2 HG03492.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0206 a0001c0002t0002g0213 a0001c0002t0002g0219 others(4): Show a0001c0002t0002g0206 a0001c0002t0002g0213 a0001c0002t0002g0219 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252	7	274	0.0255	19	c.-50 others(30): Show c.-5030_-5029insCAAAAACAAAAACAAAAAA	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding		4942		chr10	TogoVar
RUFY3_chr4_70716964_70813619	70774644	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0038 a0003c0004t0038	a0003c0004t0038g0013 a0003c0004t0038g0013	1	115	0.0087	19	c.759 others(34): Show c.759-523_759-522insAAATATATATATATATATA	RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNX1_chr21_34782801_35054302	34874610	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	67	0.0149	19	c.508 others(36): Show c.508+5928_508+5946dupTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	5/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34909588	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp2 HG03225.hp2 others(1): Show HG02922.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0025 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0001t0025 a0001c0002t0007 a0001c0003t0001	a0001c0001t0001g0133 a0001c0001t0025g0116 a0001c0002t0007g0168 others(1): Show a0001c0001t0001g0133 a0001c0001t0025g0116 a0001c0002t0007g0168 a0001c0003t0001g0162	4	107	0.0374	19	c.59- others(36): Show c.59-16644_59-16626dupTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03239.hp1 NA19043.hp1 HG02132.hp2 HG03239.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0001t0001 a0001c0001t0002 a0001c0002t0003	a0001c0001t0001g0005 a0001c0001t0002g0080 a0001c0002t0003g0161 a0001c0001t0001g0005 a0001c0001t0002g0080 a0001c0002t0003g0161	3	16	0.1875	19	c.59- others(36): Show c.59-74375_59-74357dupTTTTTTTTTTTTTTTTTTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUNX2_chr6_45323330_45556082	45424163	T T	TGGCAGCC others(12): Show TGGCAGCCGCGGGAGTCGCA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	176	0.0057	19	c.423 others(36): Show c.423+1212_423+1230dupCCGCGGGAGTCGCAGGCAG	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
RUSC2_chr9_35485111_35566895	35516022	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0033 a0001c0002t0003g0033	1	275	0.0036	19	c.-93 others(38): Show c.-93+25851_-93+25852insAAAAAAAAAAAAAAAAAGA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr9	TogoVar
RWDD4_chr4_183634635_183664185	183638494	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG03139.hp2 HG01081.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0277 a0001c0001t0002g0198 a0001c0001t0002g0277	2	218	0.0092	19	c.29 others(30): Show c.2941_*2942insTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding		1140		chr4	TogoVar
RWDD4_chr4_183634635_183664185	183638510	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0058 a0001c0004t0002g0058	1	467	0.0021	19	c.29 others(30): Show c.2925_*2926insCTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding		1124		chr4	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA19055.hp2 NA19062.hp2 others(1): Show NA18965.hp1 NA19055.hp2 NA19062.hp2 NA19072.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0002c0002t0004 a0001c0001t0001 a0001c0001t0009 a0002c0002t0004	a0001c0001t0001g0128 a0001c0001t0009g0152 a0001c0001t0009g0203 others(1): Show a0001c0001t0001g0128 a0001c0001t0009g0152 a0001c0001t0009g0203 a0002c0002t0004g0138	4	8	0.5000	19	c.535 others(36): Show c.535-1966_535-1948dupTTTTTTTTTTTTTTTTTTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158527564	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	16	0.0625	19	c.49+ others(34): Show c.49+5540_49+5541insAAAAAAATATATATATATA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP1_chr4_158516882_158658372	158623502	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	45	0.0222	19	c.756 others(36): Show c.756-3312_756-3294dupAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP2_chr13_31734526_31808389	31776102	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01934.hp1 HG02818.hp1 others(10): Show HG01081.hp1 HG01934.hp1 HG02818.hp1 HG04204.hp1 NA18957.hp2 NA18977.hp1 NA18979.hp2 NA18989.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0045 a0001c0001t0001g0160 a0001c0001t0001g0172 others(10): Show a0001c0001t0001g0045 a0001c0001t0001g0160 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0207 a0001c0001t0001g0214 a0001c0001t0001g0243 a0001c0001t0001g0260 a0001c0004t0001g0082 a0001c0004t0001g0084	13	87	0.1494	19	c.641 others(34): Show c.641+715_641+716insCTTTCTTTCTTTCTTTCTT	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXRA_chr9_134321455_134445585	134425546	T T	TGGGGGGT others(12): Show TGGGGGGTGGGGGGGGGTGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	230	0.0043	19	c.911 others(36): Show c.911-3548_911-3530dupGGGTGAGGGGGGTGGGGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRG_chr1_165395922_165450126	165403744	A A	ATTAACTT others(12): Show ATTAACTTTAAAAAATTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	410	0.0024	19	c.124 others(38): Show c.1245-2353_1245-2335dupAAAAATTTTTTAAAGTTAA	RXRG	ENSG00000143171.13	transcript	ENST00000359842.10	protein_coding	9/9			chr1	TogoVar
RYK_chr3_134152133_134255859	134216792	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	93	0.0108	19	c.355 others(36): Show c.355-5204_355-5186dupTTTTTTTTTTTTTTTTTTT	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	2/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38520693	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0166 a0002c0025t0001g0166	1	114	0.0088	19	c.102 others(40): Show c.10259+1247_10259+1265dupAAAAAAAAAAAAAAAAAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	67/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590394	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA19000.hp2 NA18612.hp2 NA19000.hp2	a0001 a0027 a0001 a0027	a0001c0034 a0027c0061 a0001c0034 a0027c0061	a0001c0034t0001 a0027c0061t0001 a0001c0034t0001 a0027c0061t0001	a0001c0034t0001g0177 a0027c0061t0001g0073 a0001c0034t0001g0177 a0027c0061t0001g0073	2	110	0.0182	19	c.29 others(30): Show c.2974_*2975insAAAAAAAAAAAAAAAAAAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2831		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590394	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03710.hp2 HG03017.hp2 HG03710.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0167 a0011c0021t0001g0168 a0011c0021t0001g0167 a0011c0021t0001g0168	2	110	0.0182	19	c.29 others(30): Show c.2974_*2975insAAAAAAAAAAAAAATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2831		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590394	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0090 a0001c0090	a0001c0090t0001 a0001c0090t0001	a0001c0090t0001g0029 a0001c0090t0001g0029	1	109	0.0092	19	c.29 others(30): Show c.2974_*2975insAAAAAAAAAATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2831		chr19	TogoVar
RYR2_chr1_237037184_237838988	237061276	C C	CATCTATC others(12): Show CATCTATCATCTATCTATCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0012 a0001c0037t0012	a0001c0037t0012g0037 a0001c0037t0012g0037	1	26	0.0385	19	c.48+ others(36): Show c.48+18714_48+18715insATCTATCTATCTATCTATC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237065269	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0012 a0001c0037t0012	a0001c0037t0012g0037 a0001c0037t0012g0037	1	84	0.0119	19	c.48+ others(36): Show c.48+22709_48+22727dupTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237107519	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0007 a0001c0048t0001g0007	1	20	0.0500	19	c.48+ others(36): Show c.48+64967_48+64968insAAAAAAAAAAAAAAAAAAA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237262245	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03195.hp2 HG01099.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0018 a0003c0021 a0001c0018 a0003c0021	a0001c0018t0029 a0003c0021t0001 a0001c0018t0029 a0003c0021t0001	a0001c0018t0029g0041 a0003c0021t0001g0019 a0001c0018t0029g0041 a0003c0021t0001g0019	2	7	0.2857	19	c.49- others(34): Show c.49-8243_49-8225dupTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237331512	C C	CTTTTCTT others(12): Show CTTTTCTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03195.hp2 HG01243.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0018 a0001c0002 a0001c0018	a0001c0002t0001 a0001c0018t0029 a0001c0002t0001 a0001c0018t0029	a0001c0002t0001g0070 a0001c0018t0029g0041 a0001c0002t0001g0070 a0001c0018t0029g0041	2	97	0.0206	19	c.273 others(34): Show c.273+534_273+535insCTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	3/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237408392	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0007 a0001c0048t0001g0007	1	52	0.0192	19	c.774 others(36): Show c.774-8657_774-8656insATATATATATATATATATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104			chr1	TogoVar
RYR2_chr1_237037184_237838988	237436454	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA19043.hp2 HG01099.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0027 a0001c0002t0003 a0001c0004t0027	a0001c0002t0003g0008 a0001c0004t0027g0005 a0001c0002t0003g0008 a0001c0004t0027g0005	2	25	0.0800	19	c.100 others(38): Show c.1006-4859_1006-4841dupTTTTTTTTTTTTTTTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	12/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237479574	A A	ACTGATTA others(12): Show ACTGATTAATCAGTATTTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01109.hp1 HG01496.hp1 others(1): Show HG00408.hp2 HG01109.hp1 HG01496.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0024 a0001c0002 a0001c0005 a0002c0024	a0001c0002t0023 a0001c0005t0006 a0001c0005t0013 others(1): Show a0001c0002t0023 a0001c0005t0006 a0001c0005t0013 a0002c0024t0005	a0001c0002t0023g0059 a0001c0005t0006g0029 a0001c0005t0013g0061 others(1): Show a0001c0002t0023g0059 a0001c0005t0006g0029 a0001c0005t0013g0061 a0002c0024t0005g0013	4	100	0.0400	19	c.170 others(40): Show c.1708+10389_1708+10390insGATTAATCAGTATTTGTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237623384	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19043.hp1 NA18522.hp2 NA19043.hp1	a0001 a0001	a0001c0008 a0001c0037 a0001c0008 a0001c0037	a0001c0008t0039 a0001c0037t0012 a0001c0008t0039 a0001c0037t0012	a0001c0008t0039g0002 a0001c0037t0012g0037 a0001c0008t0039g0002 a0001c0037t0012g0037	2	93	0.0215	19	c.591 others(36): Show c.5917-379_5917-378insCTTTCTTTCTTTCTTTCTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	38/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33450087	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0042 a0042	a0042c0071 a0042c0071	a0042c0071t0003 a0042c0071t0003	a0042c0071t0003g0115 a0042c0071t0003g0115	1	32	0.0313	19	c.52- others(36): Show c.52-23326_52-23308dupAAAAAAAAAAAAAAAAAAA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33460940	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02738.hp2 HG03453.hp1 HG02071.hp1 HG02738.hp2 HG03453.hp1	a0001 a0042 a0001 a0042	a0001c0002 a0001c0101 a0042c0071 a0001c0002 a0001c0101 a0042c0071	a0001c0002t0007 a0001c0101t0001 a0042c0071t0003 a0001c0002t0007 a0001c0101t0001 a0042c0071t0003	a0001c0002t0007g0146 a0001c0101t0001g0128 a0042c0071t0003g0115 a0001c0002t0007g0146 a0001c0101t0001g0128 a0042c0071t0003g0115	3	33	0.0909	19	c.52- others(36): Show c.52-12475_52-12457dupTTTTTTTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789986	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp2 HG02723.hp1 HG03098.hp2	a0001 a0001	a0001c0014 a0001c0120 a0001c0014 a0001c0120	a0001c0014t0002 a0001c0120t0002 a0001c0014t0002 a0001c0120t0002	a0001c0014t0002g0049 a0001c0120t0002g0121 a0001c0014t0002g0049 a0001c0120t0002g0121	2	51	0.0392	19	c.983 others(38): Show c.9830+1533_9830+1551dupTTTTTTTTTTTTTTTTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33852063	A A	ATTTGCTG others(12): Show ATTTGCTGAGGTTATTCTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(141): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(48): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0024 a0025 a0026 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053	a0001c0001 a0001c0002 a0001c0003 others(112): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0015 a0001c0037 a0001c0046 a0001c0058 a0001c0079 a0001c0082 a0001c0083 a0001c0084 a0001c0095 a0001c0096 a0001c0098 a0001c0099 a0001c0101 a0001c0120 a0002c0049 a0002c0051 a0002c0081 a0002c0088 a0002c0089 a0002c0090 a0002c0091 a0002c0092 a0002c0093 a0002c0119 a0003c0012 a0003c0035 a0003c0043 a0003c0065 a0003c0077 a0003c0078 a0003c0085 a0003c0106 a0003c0121 a0004c0006 a0004c0016 a0004c0068 a0004c0069 a0004c0070 a0004c0113 a0005c0008 a0005c0022 a0005c0028 a0005c0029 a0005c0030 a0005c0032 a0005c0040 a0006c0042 a0006c0048 a0006c0061 a0006c0062 a0006c0097 a0007c0021 a0007c0072 a0007c0073 a0008c0007 a0008c0018 a0008c0019 a0009c0054 a0009c0055 a0010c0017 a0010c0112 a0011c0063 a0011c0086 a0011c0122 a0012c0011 a0013c0057 a0013c0123 a0014c0025 a0014c0027 a0015c0103 a0016c0110 a0017c0108 a0018c0102 a0019c0031 a0020c0105 a0021c0116 a0022c0115 a0024c0075 a0025c0036 a0026c0117 a0028c0114 a0029c0050 a0030c0100 a0031c0052 a0032c0076 a0033c0066 a0034c0104 a0035c0094 a0036c0064 a0037c0039 a0038c0020 a0039c0023 a0040c0038 a0041c0041 a0042c0071 a0043c0024 a0044c0074 a0045c0045 a0046c0109 a0047c0056 a0048c0118 a0049c0111 a0050c0060 a0051c0033 a0052c0034 a0053c0067	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(124): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0009t0002 a0001c0010t0001 a0001c0013t0001 a0001c0013t0005 a0001c0014t0002 a0001c0015t0001 a0001c0037t0003 a0001c0046t0011 a0001c0058t0002 a0001c0079t0006 a0001c0082t0002 a0001c0083t0001 a0001c0084t0003 a0001c0095t0001 a0001c0096t0001 a0001c0098t0001 a0001c0099t0002 a0001c0101t0001 a0001c0120t0002 a0002c0049t0003 a0002c0051t0007 a0002c0081t0002 a0002c0088t0002 a0002c0089t0008 a0002c0090t0001 a0002c0091t0003 a0002c0092t0002 a0002c0093t0004 a0002c0119t0001 a0003c0012t0003 a0003c0035t0004 a0003c0043t0001 a0003c0065t0002 a0003c0077t0003 a0003c0078t0003 a0003c0085t0002 a0003c0106t0002 a0003c0121t0008 a0004c0006t0001 a0004c0006t0005 a0004c0016t0002 a0004c0016t0007 a0004c0068t0001 a0004c0069t0006 a0004c0070t0001 a0004c0113t0001 a0005c0008t0001 a0005c0022t0002 a0005c0028t0003 a0005c0029t0001 a0005c0030t0001 a0005c0032t0003 a0005c0040t0013 a0006c0042t0001 a0006c0048t0004 a0006c0061t0001 a0006c0062t0001 a0006c0097t0001 a0007c0021t0001 a0007c0072t0004 a0007c0073t0001 a0008c0007t0001 a0008c0018t0003 a0008c0019t0001 a0009c0054t0001 a0009c0055t0005 a0010c0017t0003 a0010c0017t0012 a0010c0112t0003 a0011c0063t0001 a0011c0086t0002 a0011c0122t0002 a0012c0011t0009 a0013c0057t0003 a0013c0123t0003 a0014c0025t0001 a0014c0027t0001 a0015c0103t0002 a0016c0110t0003 a0017c0108t0003 a0018c0102t0001 a0019c0031t0003 a0020c0105t0001 a0021c0116t0004 a0022c0115t0006 a0024c0075t0002 a0025c0036t0010 a0026c0117t0002 a0028c0114t0003 a0029c0050t0003 a0030c0100t0001 a0031c0052t0001 a0032c0076t0001 a0033c0066t0002 a0034c0104t0002 a0035c0094t0003 a0036c0064t0003 a0037c0039t0001 a0038c0020t0001 a0039c0023t0004 a0040c0038t0008 a0041c0041t0002 a0042c0071t0003 a0043c0024t0001 a0044c0074t0002 a0045c0045t0002 a0046c0109t0005 a0047c0056t0001 a0048c0118t0003 a0049c0111t0001 a0050c0060t0001 a0051c0033t0003 a0052c0034t0001 a0053c0067t0004	a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0140 others(141): Show a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0140 a0001c0001t0002g0030 a0001c0001t0002g0099 a0001c0001t0005g0008 a0001c0001t0010g0094 a0001c0002t0001g0018 a0001c0002t0001g0043 a0001c0002t0002g0102 a0001c0002t0007g0146 a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0002g0037 a0001c0003t0006g0029 a0001c0004t0001g0036 a0001c0004t0001g0083 a0001c0004t0001g0127 a0001c0004t0003g0104 a0001c0005t0001g0005 a0001c0005t0001g0027 a0001c0005t0001g0117 a0001c0009t0002g0100 a0001c0009t0002g0132 a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0013t0001g0026 a0001c0013t0005g0085 a0001c0014t0002g0016 a0001c0014t0002g0049 a0001c0015t0001g0118 a0001c0037t0003g0089 a0001c0046t0011g0066 a0001c0058t0002g0073 a0001c0079t0006g0038 a0001c0082t0002g0025 a0001c0083t0001g0143 a0001c0084t0003g0059 a0001c0095t0001g0041 a0001c0096t0001g0120 a0001c0098t0001g0151 a0001c0099t0002g0139 a0001c0101t0001g0128 a0001c0120t0002g0121 a0002c0049t0003g0014 a0002c0051t0007g0136 a0002c0081t0002g0023 a0002c0088t0002g0071 a0002c0089t0008g0129 a0002c0090t0001g0076 a0002c0091t0003g0154 a0002c0092t0002g0144 a0002c0093t0004g0050 a0002c0119t0001g0090 a0003c0012t0003g0064 a0003c0012t0003g0113 a0003c0035t0004g0107 a0003c0043t0001g0106 a0003c0065t0002g0150 a0003c0077t0003g0013 a0003c0078t0003g0024 a0003c0085t0002g0056 a0003c0106t0002g0080 a0003c0121t0008g0062 a0004c0006t0001g0119 a0004c0006t0001g0149 a0004c0006t0005g0098 a0004c0016t0002g0103 a0004c0016t0007g0116 a0004c0068t0001g0033 a0004c0069t0006g0009 a0004c0070t0001g0010 a0004c0113t0001g0095 a0005c0008t0001g0019 a0005c0008t0001g0124 a0005c0022t0002g0147 a0005c0028t0003g0086 a0005c0029t0001g0075 a0005c0030t0001g0007 a0005c0032t0003g0072 a0005c0040t0013g0145 a0006c0042t0001g0031 a0006c0048t0004g0002 a0006c0061t0001g0022 a0006c0062t0001g0108 a0006c0097t0001g0081 a0007c0021t0001g0153 a0007c0072t0004g0045 a0007c0073t0001g0138 a0008c0007t0001g0097 a0008c0007t0001g0101 a0008c0018t0003g0034 a0008c0019t0001g0001 a0009c0054t0001g0112 a0009c0055t0005g0060 a0010c0017t0003g0017 a0010c0017t0012g0079 a0010c0112t0003g0020 a0011c0063t0001g0126 a0011c0086t0002g0111 a0011c0122t0002g0054 a0012c0011t0009g0067 a0012c0011t0009g0068 a0013c0057t0003g0082 a0013c0123t0003g0047 a0014c0025t0001g0057 a0014c0027t0001g0046 a0015c0103t0002g0131 a0016c0110t0003g0035 a0017c0108t0003g0087 a0018c0102t0001g0078 a0019c0031t0003g0091 a0020c0105t0001g0084 a0021c0116t0004g0122 a0022c0115t0006g0042 a0024c0075t0002g0141 a0025c0036t0010g0088 a0026c0117t0002g0123 a0028c0114t0003g0011 a0029c0050t0003g0130 a0030c0100t0001g0021 a0031c0052t0001g0137 a0032c0076t0001g0055 a0033c0066t0002g0004 a0034c0104t0002g0135 a0035c0094t0003g0070 a0036c0064t0003g0052 a0037c0039t0001g0053 a0038c0020t0001g0074 a0039c0023t0004g0065 a0040c0038t0008g0015 a0041c0041t0002g0114 a0042c0071t0003g0115 a0043c0024t0001g0110 a0044c0074t0002g0148 a0045c0045t0002g0134 a0046c0109t0005g0040 a0047c0056t0001g0093 a0048c0118t0003g0048 a0049c0111t0001g0028 a0050c0060t0001g0125 a0051c0033t0003g0152 a0052c0034t0001g0092 a0053c0067t0004g0069	144	152	0.9474	19	c.136 others(38): Show c.13629-981_13629-980insTTGCTGAGGTTATTCTTCT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	94/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A10_chr1_151977915_151998859	151982803	G G	GAGAAAAG others(12): Show GAGAAAAGCTCTGCTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00408.hp2 others(110): Show HG00099.hp1 HG00408.hp1 HG00408.hp2 HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG01069.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp1 HG01884.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02523.hp2 HG02559.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18956.hp2 NA18960.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA18999.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19055.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0006g0075	113	388	0.2912	19	c.35 others(28): Show c.359_*360insTACACAGCAGAGCTTTTCT	S100A10	ENSG00000197747.9	transcript	ENST00000368811.8	protein_coding		111		chr1	TogoVar
S100A4_chr1_153538621_153550806	153539450	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	143	0.0070	19	c.43 others(30): Show c.4308_*4309insATATATATATATATTTTTT	S100A4	ENSG00000196154.12	transcript	ENST00000368716.9	protein_coding		4170		chr1	TogoVar
S100A5_chr1_153532147_153545934	153539450	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	150	0.0067	19	c.138 others(34): Show c.138+603_138+604insATATATATATATATTTTTT	S100A5	ENSG00000196420.8	transcript	ENST00000368717.3	protein_coding	2/2			chr1	TogoVar
S100A6_chr1_153529599_153540991	153539450	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	148	0.0068	19	c.-35 others(30): Show c.-3524_-3523insATATATATATATATTTTTT	S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding		3460		chr1	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGG others(12): Show TGGGGGGGGGAGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01433.hp2 others(2): Show HG01257.hp2 HG01258.hp1 HG01433.hp2 HG02809.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007	a0001c0001t0001g0154 a0001c0002t0001g0153 a0001c0002t0003g0213 others(1): Show a0001c0001t0001g0154 a0001c0002t0001g0153 a0001c0002t0003g0213 a0001c0002t0007g0055	5	415	0.0120	19	c.-1- others(32): Show c.-1-983_-1-982insGCCCCCCCCTCCCCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S1PR4_chr19_3173769_3185332	3174441	C C	CCTCATGG others(12): Show CCTCATGGGACACCTGTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01978.hp2 HG02074.hp2 others(8): Show HG01891.hp1 HG01978.hp2 HG02074.hp2 HG02132.hp1 HG03017.hp2 NA18951.hp2 NA18960.hp1 NA18979.hp2 NA19007.hp2 NA19009.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0001t0004g0000	11	231	0.0476	19	c.-43 others(30): Show c.-4352_-4351insCTCATGGGACACCTGTGTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4327		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3174441	C C	CCTCATGG others(12): Show CCTCATGGGACGCCTGTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	221	0.0045	19	c.-43 others(30): Show c.-4352_-4351insCTCATGGGACGCCTGTGCT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4327		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3174441	C C	CCTCATGG others(12): Show CCTCATGGGACGCCTGTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp1 HG02040.hp1 others(18): Show HG00423.hp1 HG00597.hp1 HG02040.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02258.hp1 NA18612.hp2 NA18943.hp2 NA18955.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp2 NA18975.hp1 NA19068.hp2 NA19075.hp1 NA19079.hp2 NA19084.hp2 NA19088.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	21	241	0.0871	19	c.-43 others(30): Show c.-4352_-4351insCTCATGGGACGCCTGTGTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4327		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3174631	C C	CCCCTCAT others(12): Show CCCCTCATGGGACGCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG02129.hp2 HG02132.hp2 others(1): Show HG01978.hp2 HG02129.hp2 HG02132.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	408	0.0098	19	c.-41 others(30): Show c.-4162_-4161insCCCTCATGGGACGCCTGTG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4137		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3174682	G G	GCCTGTGC others(12): Show GCCTGTGCCCTCATGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG03486.hp1 NA18940.hp2 others(3): Show HG02258.hp1 HG03486.hp1 NA18940.hp2 NA19000.hp1 NA19009.hp1 NA19060.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0000 a0003c0005t0001g0000 a0001c0001t0001g0000 a0003c0005t0001g0000	6	416	0.0144	19	c.-41 others(30): Show c.-4111_-4110insCCTGTGCCCTCATGGGACA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4086		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3174690	C C	CCTCATGG others(12): Show CCTCATGGGACGCCTGTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG03710.hp2 HG01069.hp2 HG01071.hp1 HG03710.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0001 a0001c0001t0001 a0004c0008t0001	a0001c0001t0001g0000 a0004c0008t0001g0000 a0001c0001t0001g0000 a0004c0008t0001g0000	3	411	0.0073	19	c.-41 others(30): Show c.-4103_-4102insCTCATGGGACGCCTGTGTT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		4078		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3175072	C C	CCCCTCAT others(12): Show CCCCTCATGGGACACCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	335	0.0030	19	c.-37 others(30): Show c.-3721_-3720insCCCTCATGGGACACCTGTG	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		3696		chr19	TogoVar

Search by Variant

Search

Search Results