Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RNF17_chr13_24759169_24884921	24813793	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0102 a0005c0005t0001g0102	1	3	0.3333	-29	c.209 others(48): Show c.2091+9387_2091+9415delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	15/35					INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF183_chr9_113292093_113308376	113308178	GAAAGAAA others(22): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	1	437	0.0023	-29	c.-55 others(40): Show c.-5592_-5564delTCTTTCTTTCTTTCTTTCTTTCTTTCTTT		RNF183	ENSG00000165188.14	transcript	ENST00000489339.2	protein_coding					4803		chr9	TogoVar
RNF213_chr17_80255852_80403794	80393239	CCACAGTG others(22): Show CCACAGTGCTGGGCTTACACACGTGAGCCA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG01167.hp2 others(35): Show HG00140.hp1 HG00639.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02622.hp1 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0008 a0014 a0015 others(20): Show a0008 a0014 a0015 a0017 a0022 a0024 a0026 a0027 a0030 a0038 a0042 a0045 a0046 a0059 a0073 a0076 a0078 a0080 a0081 a0084 a0101 a0102 a0104	a0008c0013 a0008c0028 a0014c0017 others(23): Show a0008c0013 a0008c0028 a0014c0017 a0014c0138 a0015c0014 a0017c0033 a0017c0108 a0022c0022 a0024c0023 a0026c0034 a0027c0038 a0030c0031 a0038c0137 a0042c0050 a0045c0063 a0046c0115 a0059c0131 a0073c0147 a0076c0119 a0078c0107 a0080c0066 a0081c0116 a0084c0091 a0101c0106 a0102c0127 a0104c0085	a0008c0013t0017 a0008c0028t0009 a0014c0017t0003 others(23): Show a0008c0013t0017 a0008c0028t0009 a0014c0017t0003 a0014c0138t0003 a0015c0014t0016 a0017c0033t0009 a0017c0108t0003 a0022c0022t0003 a0024c0023t0003 a0026c0034t0003 a0027c0038t0003 a0030c0031t0003 a0038c0137t0009 a0042c0050t0016 a0045c0063t0016 a0046c0115t0003 a0059c0131t0003 a0073c0147t0017 a0076c0119t0031 a0078c0107t0023 a0080c0066t0023 a0081c0116t0009 a0084c0091t0009 a0101c0106t0009 a0102c0127t0009 a0104c0085t0003	a0008c0013t0017g0236 a0008c0013t0017g0241 a0008c0013t0017g0250 others(35): Show a0008c0013t0017g0236 a0008c0013t0017g0241 a0008c0013t0017g0250 a0008c0028t0009g0030 a0008c0028t0009g0244 a0014c0017t0003g0089 a0014c0017t0003g0090 a0014c0017t0003g0097 a0014c0138t0003g0005 a0015c0014t0016g0216 a0015c0014t0016g0217 a0017c0033t0009g0033 a0017c0033t0009g0275 a0017c0108t0003g0083 a0022c0022t0003g0169 a0022c0022t0003g0170 a0024c0023t0003g0247 a0024c0023t0003g0248 a0026c0034t0003g0237 a0026c0034t0003g0239 a0027c0038t0003g0007 a0027c0038t0003g0013 a0030c0031t0003g0019 a0030c0031t0003g0026 a0038c0137t0009g0015 a0042c0050t0016g0218 a0045c0063t0016g0234 a0046c0115t0003g0035 a0059c0131t0003g0010 a0073c0147t0017g0175 a0076c0119t0031g0246 a0078c0107t0023g0081 a0080c0066t0023g0029 a0081c0116t0009g0238 a0084c0091t0009g0289 a0101c0106t0009g0032 a0102c0127t0009g0062 a0104c0085t0003g0291	38	290	0.1310	-29	c.154 others(46): Show c.15471-75_15471-47delACAGTGCTGGGCTTACACACGTGAGCCA C		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	67/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF214_chr11_117227671_117291454	117282758	ATCCGGGC others(22): Show ATCCGGGCCTTGTTCCCTGCTCCACTGGCC	A A	frameshift_variant frameshift_variant	HIGH	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0008 a0002c0004t0002g0008	1	358	0.0028	-29	c.185 others(38): Show c.1859_1887delTCCGGGCCTTGTTCCCTGCTCCACTGGCC	p.Ile others(5): Show p.Ile620fs	RNF214	ENSG00000167257.11	transcript	ENST00000300650.9	protein_coding	13/15	1921/3477	1859/2112	620/703			chr11	TogoVar
RNF217_chr6_124957437_125097633	124969871	GGGGTTGT others(22): Show GGGGTTGTCATGGAGGATATGTTTTACGAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0167 a0001c0001t0026g0167	1	266	0.0038	-29	c.882 others(46): Show c.882+6449_882+6477delTTGTCATGGAGGATATGTTTTACGAAGG G		RNF217	ENSG00000146373.17	transcript	ENST00000521654.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF217_chr6_124957437_125097633	125049643	CACACATA others(22): Show CACACATATAAATTACTTAGCACCACATAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG01891.hp1 others(31): Show HG00741.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02818.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG03834.hp1 HG06807.hp1 NA18906.hp1 NA18983.hp2 NA18989.hp1 NA19002.hp1 NA19004.hp2 NA19070.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0010	a0001c0001 a0001c0003 a0001c0012 others(5): Show a0001c0001 a0001c0003 a0001c0012 a0002c0006 a0003c0004 a0005c0007 a0006c0010 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0019 a0001c0001t0022 a0001c0001t0034 a0001c0001t0048 a0001c0001t0049 a0001c0003t0008 a0001c0003t0010 a0001c0003t0023 a0001c0012t0031 a0002c0006t0013 a0003c0004t0011 a0003c0004t0044 a0005c0007t0006 a0006c0010t0028 a0010c0013t0030	a0001c0001t0001g0156 a0001c0001t0001g0208 a0001c0001t0001g0243 others(31): Show a0001c0001t0001g0156 a0001c0001t0001g0208 a0001c0001t0001g0243 a0001c0001t0002g0248 a0001c0001t0003g0254 a0001c0001t0004g0182 a0001c0001t0006g0004 a0001c0001t0006g0146 a0001c0001t0006g0190 a0001c0001t0008g0181 a0001c0001t0010g0152 a0001c0001t0015g0206 a0001c0001t0019g0076 a0001c0001t0022g0179 a0001c0001t0034g0145 a0001c0001t0048g0161 a0001c0001t0049g0261 a0001c0003t0008g0130 a0001c0003t0008g0174 a0001c0003t0010g0258 a0001c0003t0010g0265 a0001c0003t0023g0142 a0001c0012t0031g0255 a0002c0006t0013g0011 a0002c0006t0013g0018 a0003c0004t0011g0148 a0003c0004t0011g0149 a0003c0004t0011g0155 a0003c0004t0011g0189 a0003c0004t0011g0257 a0003c0004t0044g0099 a0005c0007t0006g0094 a0006c0010t0028g0031 a0010c0013t0030g0191	34	266	0.1278	-29	c.111 others(48): Show c.1116+4200_1116+4228delACACATATAAATTACTTAGCACCACA TAT		RNF217	ENSG00000146373.17	transcript	ENST00000521654.7	protein_coding	2/5						chr6	TogoVar
RNF222_chr17_8385702_8402827	8400802	TGCCTCAG others(22): Show TGCCTCAGTTGCTTCATCTGTAGAAACTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02647.hp2 HG02257.hp1 HG02257.hp2 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0001 a0002c0002t0001 a0002c0002t0028 a0001c0005t0001 a0002c0002t0001 a0002c0002t0028	a0001c0005t0001g0059 a0002c0002t0001g0060 a0002c0002t0028g0061 a0001c0005t0001g0059 a0002c0002t0001g0060 a0002c0002t0028g0061	3	434	0.0069	-29	c.-33 others(40): Show c.-3314_-3286delGCAGTTTCTACAGATGAAGCAACTGAGGC		RNF222	ENSG00000189051.6	transcript	ENST00000399398.3	protein_coding					2976		chr17	TogoVar
RNF223_chr1_1065967_1079306	1076469	CTGAGGCT others(22): Show CTGAGGCTATGGTGACTCCGTGCAGGGCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0020 a0002c0003t0020	a0002c0003t0020g0055 a0002c0003t0020g0055	1	322	0.0031	-29	c.-24 others(40): Show c.-2492_-2464delCAGCCCTGCACGGAGTCACCATAGCCTCA		RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding					2164		chr1	TogoVar
RNFT2_chr12_116733315_116858631	116750852	ATATATAT others(22): Show ATATATATTATATATATATAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02257.hp1 HG02922.hp1 others(1): Show HG00741.hp1 HG02257.hp1 HG02922.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0006 others(1): Show a0001c0002 a0001c0005 a0001c0006 a0001c0015	a0001c0002t0018 a0001c0005t0055 a0001c0006t0051 others(1): Show a0001c0002t0018 a0001c0005t0055 a0001c0006t0051 a0001c0015t0002	a0001c0002t0018g0022 a0001c0005t0055g0021 a0001c0006t0051g0013 others(1): Show a0001c0002t0018g0022 a0001c0005t0055g0021 a0001c0006t0051g0013 a0001c0015t0002g0020	4	264	0.0152	-29	c.550 others(44): Show c.550+553_550+581delTATATATATATAATATATATATTATATAT		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
ROBO1_chr3_78592239_79772998	78955201	TAGGTAAA others(22): Show TAGGTAAACTGTGTGTCATGGGGGTTATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03579.hp2 HG01243.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0014 a0001c0005t0005 a0001c0001t0014 a0001c0005t0005	a0001c0001t0014g0041 a0001c0005t0005g0004 a0001c0001t0014g0041 a0001c0005t0005g0004	2	44	0.0455	-29	c.173 others(48): Show c.173-16303_173-16275delGTATAACCCCCATGACACACAGTTTA CCT		ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	3/30						chr3	TogoVar
ROBO2_chr3_77035099_77654964	77090323	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0095 a0001c0001t0005g0095	1	3	0.3333	-29	c.62- others(44): Show c.62-7671_62-7643delTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
ROBO2_chr3_77035099_77654964	77123937	CTTGTATC others(22): Show CTTGTATCTATATAGATAGATATGTAGATA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	160	0.0063	-29	c.388 others(48): Show c.388+25598_388+25626delTTGTATCTATATAGATAGATATGTAG ATA		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27						chr3	TogoVar
RPA1_chr17_1825005_1905082	1860616	TTTTGGGA others(22): Show TTTTGGGACATACAGAGCACAATGACAGTA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0393 a0001c0001t0009g0393	1	400	0.0025	-29	c.361 others(46): Show c.361+7432_361+7460delGGACATACAGAGCACAATGACAGTATTT G		RPA1	ENSG00000132383.12	transcript	ENST00000254719.10	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPA3_chr7_7631518_7723607	7679445	ATATATTT others(22): Show ATATATTTAATTTATAGATAAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	306	0.0033	-29	c.-75 others(48): Show c.-758+6356_-758+6384delAATATATATTTATCTATAAATTAAAT ATA		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPAP2_chr1_92294059_92407056	92301205	CGGATGTG others(22): Show CGGATGTGGTGGCTTATGCCGGTGATCCCA	C C	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0068	1	190	0.0053	-29	c.120 others(44): Show c.120-269_120-241delGATGTGGTGGCTTATGCCGGTGATCCCAG		RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPL19_chr17_39195283_39209732	39205992	GCGTGCCT others(22): Show GCGTGCCTTTCAGGGCATGTAATGGGCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00733.hp1 HG00741.hp1 others(40): Show HG00099.hp1 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01168.hp2 HG01255.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02895.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19068.hp1 NA19072.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059	43	396	0.1086	-29	c.13 others(40): Show c.1345_*1373delCGTGCCTTTCAGGGCATGTAATGGGCTGA		RPL19	ENSG00000108298.12	transcript	ENST00000225430.9	protein_coding					1261		chr17	TogoVar
RPL32_chr3_12829485_12846565	12838028	GAGTTTGG others(22): Show GAGTTTGGGGCTGCGGTGTGCCATGATCAC	G G	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	404	0.0025	-29	c.278 others(46): Show c.278+1292_278+1320delGTGATCATGGCACACCGCAGCCCCAAAC T		RPL32	ENSG00000144713.13	transcript	ENST00000429711.7	protein_coding	3/3						chr3	TogoVar
RPL37A_chr2_216493844_216509086	216500362	TAAAAATA others(22): Show TAAAAATAGGTGAAGGGGTCAGTTAGTTCA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0027 a0001c0001t0008g0027	1	438	0.0023	-29	c.215 others(44): Show c.215+335_215+363delAATAGGTGAAGGGGTCAGTTAGTTCAAAA		RPL37A	ENSG00000197756.10	transcript	ENST00000491306.6	protein_coding	3/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
RPL7_chr8_73285242_73298633	73297634	GTATTTTT others(22): Show GTATTTTTGAGAGGGCAGAGGATTGAACAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	446	0.0022	-29	c.-40 others(40): Show c.-4051_-4023delATGTTCAATCCTCTGCCCTCTCAAAAATA		RPL7	ENSG00000147604.14	transcript	ENST00000352983.7	protein_coding					4002		chr8	TogoVar
RPRD1A_chr18_35984824_36072559	35997475	GCAACATT others(22): Show GCAACATTCATAAGCAAAACATTCAACACC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0308 a0001c0002t0001g0308	1	316	0.0032	-29	c.790 others(46): Show c.790-4204_790-4176delGGTGTTGAATGTTTTGCTTATGAATGTT G		RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6						chr18	TogoVar
RPS6KA2_chr6_166404364_166632251	166613780	CCACGGCC others(22): Show CCACGGCCTTCAGGACACAGTCGGGCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0112 a0001c0009t0001g0113 a0001c0009t0001g0112 a0001c0009t0001g0113	2	242	0.0083	-29	c.99+ others(46): Show c.99+13112_99+13140delAAAAGCCCGACTGTGTCCTGAAGGCCGT G		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	1/20						chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166631319	CCCTTATT others(22): Show CCCTTATTGACTGGCTTACATTTAGGAAGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0101 a0001c0002t0009g0101	1	242	0.0041	-29	c.-43 others(40): Show c.-4329_-4301delTCTTCCTAAATGTAAGCCAGTCAATAAGG		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding					4069		chr6	TogoVar
RPS6KB1_chr17_59888121_59955574	59909226	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	3	0.3333	-29	c.142 others(46): Show c.142-1305_142-1277delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr17	TogoVar
RRAGC_chr1_38833198_38864772	38864014	GCACAGAA others(22): Show GCACAGAAAGGCCAGTGTGCAACTAGGACC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	416	0.0024	-29	c.-43 others(40): Show c.-4397_-4369delGGTCCTAGTTGCACACTGGCCTTTCTGTG		RRAGC	ENSG00000116954.8	transcript	ENST00000373001.4	protein_coding					4243		chr1	TogoVar
RSBN1L_chr7_77691459_77788022	77767008	TCCTTTCC others(22): Show TCCTTTCCTTCCCCTTCCCCTTCCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03579.hp1 HG01099.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0193 a0001c0001t0005g0198 a0001c0001t0005g0193 a0001c0001t0005g0198	2	334	0.0060	-29	c.148 others(48): Show c.1482+1381_1482+1409delTCCTTCCCCTTCCCCTTCCCTTTCCC CTT		RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSBN1L_chr7_77691459_77788022	77767013	TCCTTCCC others(22): Show TCCTTCCCCTTCCCCTTCCCTTTCCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp1 HG01891.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0040 a0001c0001t0022g0041 a0001c0001t0022g0040 a0001c0001t0022g0041	2	327	0.0061	-29	c.148 others(48): Show c.1482+1436_1482+1464delCTTCCCTTCCCCTTCCCCTTCCCTTT CCC		RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH10B_chr7_5921136_5975689	5927022	CGTGTGTG others(22): Show CGTGTGTGTGTGTGTGTGTGTGTGTATTAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00741.hp1 others(3): Show HG00639.hp2 HG00735.hp1 HG00741.hp1 HG01071.hp2 HG01978.hp2 HG02615.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0006 a0006c0006t0001 a0001c0001t0006 a0006c0006t0001	a0001c0001t0006g0013 a0006c0006t0001g0002 a0006c0006t0001g0004 others(3): Show a0001c0001t0006g0013 a0006c0006t0001g0002 a0006c0006t0001g0004 a0006c0006t0001g0008 a0006c0006t0001g0017 a0006c0006t0001g0021	6	69	0.0870	-29	c.243 others(46): Show c.2433-503_2433-475delATAATACACACACACACACACACACACA C		RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	20/20						chr7	TogoVar
RSPH10B_chr7_5921136_5975689	5927039	GTGTGTGT others(22): Show GTGTGTGTATTATGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG01069.hp1 others(7): Show HG00099.hp2 HG00621.hp1 HG01069.hp1 HG01071.hp1 HG01261.hp1 HG01515.hp2 HG02109.hp1 HG02523.hp2 HG02976.hp2 NA18906.hp1	a0003 a0004 a0009 others(1): Show a0003 a0004 a0009 a0012	a0003c0005 a0004c0003 a0009c0015 others(1): Show a0003c0005 a0004c0003 a0009c0015 a0012c0012	a0003c0005t0005 a0004c0003t0001 a0004c0003t0004 others(2): Show a0003c0005t0005 a0004c0003t0001 a0004c0003t0004 a0009c0015t0001 a0012c0012t0001	a0003c0005t0005g0033 a0004c0003t0001g0024 a0004c0003t0001g0025 others(7): Show a0003c0005t0005g0033 a0004c0003t0001g0024 a0004c0003t0001g0025 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0029 a0004c0003t0001g0030 a0004c0003t0004g0061 a0009c0015t0001g0031 a0012c0012t0001g0036	10	70	0.1429	-29	c.243 others(46): Show c.2433-520_2433-492delTACACACACACACACACATAATACACAC A		RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	20/20						chr7	TogoVar
RSPO2_chr8_107894316_108088620	108003289	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0009 a0001c0001t0011g0009	1	238	0.0042	-29	c.95- others(46): Show c.95-14074_95-14046delAAAAAAATATATATATATATATATATAT A		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5						chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003291	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18982.hp2 NA19074.hp2 NA18942.hp1 NA18982.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0027 a0002c0002t0001g0030 a0002c0002t0001g0032	3	235	0.0128	-29	c.95- others(46): Show c.95-14076_95-14048delAAAAAAAAATATATATATATATATATAT A		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5						chr8	TogoVar
RSPO2_chr8_107894316_108088620	108003293	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00597.hp2 others(28): Show HG00423.hp1 HG00438.hp1 HG00597.hp2 HG01069.hp1 HG01071.hp1 HG01243.hp2 HG01256.hp2 HG02004.hp1 HG02080.hp1 HG02602.hp2 HG02738.hp2 HG04199.hp2 HG04204.hp1 NA18953.hp1 NA18957.hp1 NA18967.hp2 NA18978.hp2 NA18979.hp1 NA18984.hp2 NA18985.hp2 NA18991.hp1 NA18999.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19084.hp1 NA19090.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0002c0002t0001	a0001c0001t0001g0039 a0001c0001t0002g0022 a0001c0001t0003g0010 others(28): Show a0001c0001t0001g0039 a0001c0001t0002g0022 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0020 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0165 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0089 a0001c0001t0012g0001 a0002c0002t0001g0021 a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0038 a0002c0002t0001g0045 a0002c0002t0001g0053 a0002c0002t0001g0101	31	218	0.1422	-29	c.95- others(46): Show c.95-14078_95-14050delAAAAAAAAAAATATATATATATATATAT A		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5						chr8	TogoVar
RSRC1_chr3_158105089_158550730	158249487	TATGAAAC others(22): Show TATGAAACAATTTGACTTTTCATTCACCTA	T T	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	274	0.0036	-29	c.494 others(48): Show c.494+46243_494+46271delATGAAACAATTTGACTTTTCATTCAC CTA		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9						chr3	TogoVar
RSRC1_chr3_158105089_158550730	158399123	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	171	0.0058	-29	c.583 others(48): Show c.583+44236_583+44264delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158517754	AATTTTTT others(22): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp2 others(83): Show HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01258.hp2 HG01261.hp1 HG01516.hp1 HG01517.hp1 HG01978.hp2 HG02056.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02523.hp2 HG02698.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp2 HG03195.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18946.hp1 NA18950.hp2 NA18952.hp1 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18968.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19011.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0004 a0001c0001 a0002c0002 a0005c0004	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(14): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0002c0002t0017 a0005c0004t0005	a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0058 others(83): Show a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0058 a0001c0001t0003g0091 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0146 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0158 a0001c0001t0003g0164 a0001c0001t0004g0038 a0001c0001t0004g0078 a0001c0001t0004g0156 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0196 a0001c0001t0004g0199 a0001c0001t0004g0201 a0001c0001t0004g0210 a0001c0001t0004g0220 a0001c0001t0004g0256 a0001c0001t0004g0266 a0001c0001t0004g0269 a0001c0001t0005g0045 a0001c0001t0005g0056 a0001c0001t0005g0065 a0001c0001t0005g0125 a0001c0001t0005g0129 a0001c0001t0005g0132 a0001c0001t0005g0135 a0001c0001t0005g0138 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0006g0080 a0001c0001t0007g0037 a0001c0001t0007g0127 a0001c0001t0007g0137 a0001c0001t0007g0167 a0001c0001t0007g0203 a0001c0001t0007g0205 a0001c0001t0007g0206 a0001c0001t0007g0208 a0001c0001t0008g0072 a0001c0001t0008g0090 a0001c0001t0008g0094 a0001c0001t0008g0112 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0123 a0001c0001t0008g0131 a0001c0001t0008g0136 a0001c0001t0008g0157 a0001c0001t0011g0082 a0001c0001t0011g0190 a0001c0001t0011g0197 a0001c0001t0011g0198 a0001c0001t0011g0204 a0001c0001t0011g0207 a0001c0001t0011g0209 a0001c0001t0011g0211 a0001c0001t0013g0047 a0001c0001t0017g0113 a0001c0001t0017g0150 a0001c0001t0018g0139 a0001c0001t0018g0141 a0001c0001t0018g0143 a0001c0001t0018g0145 a0001c0001t0027g0048 a0001c0001t0029g0152 a0001c0001t0030g0155 a0001c0001t0031g0081 a0001c0001t0032g0124 a0002c0002t0017g0114 a0002c0002t0017g0115 a0005c0004t0005g0120	86	274	0.3139	-29	c.653 others(48): Show c.653-19337_653-19309delATTTTTTTTTTTTTTTTTTTTTTTTT TTT		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9						chr3	TogoVar
RSRC2_chr12_122498454_122531936	122505478	ATCAGAAC others(22): Show ATCAGAACAAGAAGTCTATAAGTCCCAAAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0197 a0001c0001t0035g0197	1	380	0.0026	-29	c.20 others(36): Show c.20_*48delGTTTGGGACTTATAGACTTCTTGTTCTGA		RSRC2	ENSG00000111011.18	transcript	ENST00000331738.12	protein_coding	10/10				20		chr12	TogoVar
RSU1_chr10_16585611_16822424	16710583	TAGTTCTT others(22): Show TAGTTCTTCTTCAAATGTTTTGTAGAATTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp2 HG01884.hp2 others(13): Show HG00099.hp1 HG01070.hp2 HG01884.hp2 HG01975.hp1 HG02109.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp2 HG02717.hp2 HG02809.hp1 HG02976.hp1 HG03139.hp1 HG03486.hp1 HG03579.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 others(13): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0029 a0001c0001t0034 a0001c0001t0036 a0001c0001t0048 a0001c0001t0055 a0001c0001t0057 a0001c0002t0004 a0001c0002t0010 a0001c0002t0032 a0001c0002t0056 a0001c0003t0022	a0001c0001t0004g0076 a0001c0001t0005g0162 a0001c0001t0012g0068 others(13): Show a0001c0001t0004g0076 a0001c0001t0005g0162 a0001c0001t0012g0068 a0001c0001t0017g0016 a0001c0001t0018g0011 a0001c0001t0029g0010 a0001c0001t0034g0014 a0001c0001t0036g0002 a0001c0001t0048g0111 a0001c0001t0055g0158 a0001c0001t0057g0115 a0001c0002t0004g0043 a0001c0002t0010g0070 a0001c0002t0032g0013 a0001c0002t0056g0131 a0001c0003t0022g0055	16	188	0.0851	-29	c.599 others(48): Show c.599-15457_599-15429delGAATTCTACAAAACATTTGAAGAAGA ACT		RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	7/8						chr10	TogoVar
RTL3_chrX_78651068_78664328	78655838	TACTTTCA others(22): Show TACTTTCAGCCCTAACCATTCCCTACTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	320	0.0031	-29	c.11 others(40): Show c.1126_*1154delGAGAGTAGGGAATGGTTAGGGCTGAAAGT		RTL3	ENSG00000179300.4	transcript	ENST00000321110.2	protein_coding					229		chrX	TogoVar
RTN2_chr19_45480294_45502047	45497692	AAATATGT others(22): Show AAATATGTATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02886.hp2 HG03130.hp1 others(1): Show HG02145.hp1 HG02886.hp2 HG03130.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0047 a0001c0002t0001g0048	4	429	0.0093	-29	c.-89 others(38): Show c.-896_-868delATATATATATATATATATATATACATATT		RTN2	ENSG00000125744.12	transcript	ENST00000245923.9	protein_coding					646		chr19	TogoVar
RUFY2_chr10_68338408_68412277	68406315	GAAAAATG others(22): Show GAAAAATGTCCACACACGAATTCCTTCAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00558.hp1 others(26): Show HG00140.hp2 HG00438.hp1 HG00558.hp1 HG01261.hp2 HG01517.hp1 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02145.hp2 HG03710.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18946.hp1 NA18948.hp2 NA18953.hp2 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18995.hp2 NA19002.hp1 NA19009.hp1 NA19062.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0001c0001t0039	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 others(26): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0005g0023 a0001c0001t0009g0014 a0001c0001t0009g0017 a0001c0001t0009g0018 a0001c0001t0025g0029 a0001c0001t0026g0025 a0001c0001t0029g0038 a0001c0001t0039g0019	29	274	0.1058	-29	c.4+8 others(40): Show c.4+842_4+870delTTTGAAGGAATTCGTGTGTGGACATTTTT		RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	1/17						chr10	TogoVar
RUFY3_chr4_70716964_70813619	70733073	AAGAGAGA others(22): Show AAGAGAGAGAGAGAGAGAGAGAGGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01070.hp1 HG01952.hp1 others(8): Show HG00597.hp2 HG01070.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp2 HG02622.hp2 HG02896.hp2 HG02922.hp2 HG03471.hp2 HG03927.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0002 a0001c0001t0037 a0004c0002t0002 a0001c0001t0002 a0001c0001t0037 a0004c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0097 a0001c0001t0002g0098 others(7): Show a0001c0001t0002g0001 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0037g0162 a0004c0002t0002g0157	11	242	0.0455	-29	c.178 others(48): Show c.178+10341_178+10369delAGAGGAGAGAGAGAGAGAGAGAGAGA GAG		RUFY3	ENSG00000018189.13	transcript	ENST00000381006.8	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr4	TogoVar
RUNDC3A_chr17_44303601_44323670	44312720	CGGTCCCT others(22): Show CGGTCCCTCCCCCAGCGCCCCTCCCCCAGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	410	0.0024	-29	c.223 others(42): Show c.223+54_223+82delTGGTCCCTCCCCCAGCGCCCCTCCCCCAG		RUNDC3A	ENSG00000108309.14	transcript	ENST00000426726.8	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
RUNDC3B_chr7_87623398_87837296	87703885	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTGG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp2 HG02895.hp1 HG01069.hp1 HG01167.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0062 a0001c0001t0068 a0001c0001t0001 a0001c0001t0062 a0001c0001t0068	a0001c0001t0001g0098 a0001c0001t0062g0145 a0001c0001t0068g0143 a0001c0001t0001g0098 a0001c0001t0062g0145 a0001c0001t0068g0143	3	108	0.0278	-29	c.372 others(46): Show c.372+3358_372+3386delTGGTTTTTTTTTTTTTTTTTTTTTTTTT T		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX2_chr6_45323330_45556082	45400032	GGGAAGGA others(22): Show GGGAAGGAAAGAAGGAAAGGAGGGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00735.hp2 others(11): Show HG00099.hp1 HG00423.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01496.hp1 HG02602.hp2 HG02683.hp2 HG03710.hp1 NA18955.hp1 NA18995.hp1 NA19084.hp2 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0015	a0001c0002t0001g0026 a0001c0002t0001g0045 a0001c0002t0001g0046 others(11): Show a0001c0002t0001g0026 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0099 a0001c0002t0001g0143 a0001c0002t0003g0058 a0001c0002t0004g0027 a0001c0002t0004g0040 a0001c0002t0004g0060 a0001c0002t0004g0061 a0001c0002t0006g0015 a0001c0002t0006g0016 a0001c0002t0015g0044	14	176	0.0795	-29	c.59- others(46): Show c.59-22545_59-22517delAAGGAGGGAGGGAAGGAAGGAAAGAAGG A		RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
RYR1_chr19_38428691_38592564	38540552	CCTCCAAT others(22): Show CCTCCAATCATATACTACAGTGTAATAAAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG02257.hp2 others(3): Show HG00642.hp2 HG01243.hp1 HG02257.hp2 HG03098.hp1 HG03453.hp2 NA20129.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0068 a0001c0119 a0002c0079 others(1): Show a0001c0068 a0001c0119 a0002c0079 a0005c0007	a0001c0068t0002 a0001c0119t0001 a0002c0079t0001 others(1): Show a0001c0068t0002 a0001c0119t0001 a0002c0079t0001 a0005c0007t0002	a0001c0068t0002g0206 a0001c0119t0001g0198 a0002c0079t0001g0165 others(3): Show a0001c0068t0002g0206 a0001c0119t0001g0198 a0002c0079t0001g0165 a0005c0007t0002g0202 a0005c0007t0002g0209 a0005c0007t0002g0210	6	216	0.0278	-29	c.116 others(50): Show c.11689+2621_11689+2649delTCTCCAATCATATACTACAGTGTA ATAAA		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105					INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590387	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0108 a0001c0108	a0001c0108t0001 a0001c0108t0001	a0001c0108t0001g0035 a0001c0108t0001g0035	1	210	0.0048	-29	c.29 others(40): Show c.2968_*2996delAAAAAAAATATATATATATATATATATAT		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding					2824		chr19	TogoVar
RYR3_chr15_33305967_33871102	33789632	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0085 a0003c0085	a0003c0085t0002 a0003c0085t0002	a0003c0085t0002g0056 a0003c0085t0002g0056	1	152	0.0066	-29	c.983 others(48): Show c.9830+1176_9830+1204delATATATATATATATATATATATATAT TTT		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103					INFO_REALIGN_3_PRIME	chr15	TogoVar
S100A12_chr1_153368711_153380621	153379784	ACACCTAG others(22): Show ACACCTAGGGTGGCGGCGGCTCCTTGGCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00639.hp1 others(47): Show HG00099.hp1 HG00597.hp1 HG00639.hp1 HG00733.hp2 HG01070.hp1 HG01099.hp1 HG01109.hp1 HG01257.hp2 HG01358.hp2 HG01978.hp1 HG02055.hp1 HG02080.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18950.hp2 NA18961.hp1 NA18964.hp1 NA18987.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp2 NA19056.hp2 NA19074.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0017	50	364	0.1374	-29	c.-42 others(40): Show c.-4282_-4254delCTGCCAAGGAGCCGCCGCCACCCTAGGTG		S100A12	ENSG00000163221.9	transcript	ENST00000368737.5	protein_coding					4164		chr1	TogoVar
S100A4_chr1_153538621_153550806	153539441	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	348	0.0029	-29	c.42 others(40): Show c.4289_*4317delATATATATATATATATATATTTTTTTTTT		S100A4	ENSG00000196154.12	transcript	ENST00000368716.9	protein_coding					4179		chr1	TogoVar
S100A5_chr1_153532147_153545934	153539441	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	376	0.0027	-29	c.138 others(44): Show c.138+584_138+612delATATATATATATATATATATTTTTTTTTT		S100A5	ENSG00000196420.8	transcript	ENST00000368717.3	protein_coding	2/2						chr1	TogoVar
S100A6_chr1_153529599_153540991	153539441	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0026	-29	c.-35 others(40): Show c.-3543_-3515delATATATATATATATATATATTTTTTTTTT		S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding					3451		chr1	TogoVar

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