Joint Open Genome and Omics Platform (JoGo)

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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
PUM1_chr1_30926506_31070717	30972260	AAAGAAAA others(44): Show AAAGAAAAGAAGGGAAGGGAAGGGAAGGGGAGGGGAGGGGAGGGGAGGGG AG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0027 a0001c0002t0010g0027	1	266	0.0038	-51	c.150 others(70): Show c.1506+2340_1506+2390delCTCCCCTCCCCTCCCCTCCCCTCCCC TTCCCTTCCCTTCCCTTCTTTTCTT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PXMP4_chr20_33697758_33725310	33699397	TGGGAGGG others(44): Show TGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCTCCCTGT CC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	386	0.0026	-51	c.82 others(62): Show c.8258_*8308delGGACAGGGAGGCTGGCCGGGCGGGGGGCTGACCC CCCCCCACCTCCCTCCC	PXMP4	ENSG00000101417.12	transcript	ENST00000409299.8	protein_coding		3360		chr20	TogoVar
RAB1A_chr2_65081854_65135106	65097022	CAGAGACA others(44): Show CAGAGACACAAACCCATGATTCTCTAACAGGTAAATACTAGAACCAAGAC AA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18906.hp1 HG03041.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0013 a0001c0001t0002g0019	2	338	0.0059	-51	c.192 others(66): Show c.192+898_192+948delTTGTCTTGGTTCTAGTATTTACCTGTTAGA GAATCATGGGTTTGTGTCTCT	RAB1A	ENSG00000138069.18	transcript	ENST00000409784.8	protein_coding	3/5			chr2	TogoVar
RAB2A_chr8_60511987_60628644	60587436	CCTGTTTT others(44): Show CCTGTTTTGGCAAACATTTCTTAAATGGGACAGAGAAAAGCATGAACTTA TA	C C	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	356	0.0028	-51	c.362 others(68): Show c.362+2622_362+2672delCTGTTTTGGCAAACATTTCTTAAATGGG ACAGAGAAAAGCATGAACTTATA	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	5/7			chr8	TogoVar
RAB40C_chr16_585066_634268	617440	GTCTGGGA others(44): Show GTCTGGGACACTGTGTCCCTAGAGATCGCGGCTCCCCTCCTGCCCCGGAA AA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	348	0.0029	-51	c.203 others(66): Show c.203+173_203+223delTCTGGGACACTGTGTCCCTAGAGATCGCGG CTCCCCTCCTGCCCCGGAAAA	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	2/5			chr16	TogoVar
RAB44_chr6_36692826_36738184	36734319	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0324 a0001c0002t0003g0324	1	423	0.0024	-51	c.22 others(62): Show c.2227_*2277delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGA	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1136		chr6	TogoVar
RAB44_chr6_36692826_36738184	36734321	GAGAGAGA others(44): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0311 a0001c0002t0003g0311	1	391	0.0026	-51	c.22 others(62): Show c.2229_*2279delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGA	RAB44	ENSG00000255587.9	transcript	ENST00000612677.6	protein_coding		1138		chr6	TogoVar
RAD9B_chr12_110497331_110538556	110507504	TAAATATA others(44): Show TAAATATAATACATAATATATGTATTAAATATAATACATAATATATGTAT TA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	282	0.0035	-51	c.388 others(66): Show c.388+814_388+864delATATAATACATAATATATGTATTAAATATA ATACATAATATATGTATTAAA	RAD9B	ENSG00000151164.19	transcript	ENST00000409300.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RASA3_chr13_113972783_114137623	114044465	CCCGCCTC others(44): Show CCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCTCCCC CG	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	66	0.0152	-51	c.278 others(68): Show c.278-3422_278-3372delCGGGGGAGCTCAGCGAGTGAGGCGGGGC GGGGGGCTCAGCGAGTGAGGCGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114117210	GTGCACGT others(44): Show GTGCACGTGTGTGAGGGGTGCATGTGTGTGAGGGGTGCACGTGTGTGAGG GA	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG04228.hp2 HG02738.hp1 HG04228.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0001g0016 a0001c0005t0001g0017	2	66	0.0303	-51	c.55+ others(68): Show c.55+15174_55+15224delTCCCTCACACACGTGCACCCCTCACACA CATGCACCCCTCACACACGTGCA	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASGRF1_chr15_78954906_79095780	78989448	CCTAACAT others(44): Show CCTAACATTAAAGAGAATGTTTAATTAAACATTCGCTCAGCACTGTGGCC TT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG03579.hp1 others(1): Show HG01167.hp1 HG01169.hp2 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0051 a0001c0002t0003g0101 a0001c0002t0003g0102 others(1): Show a0001c0002t0003g0051 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0302	4	312	0.0128	-51	c.321 others(68): Show c.3216+690_3216+740delAAGGCCACAGTGCTGAGCGAATGTTTAA TTAAACATTCTCTTTAATGTTAG	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	22/26			chr15	TogoVar
RBBP4_chr1_32646208_32691211	32691160	GTGAGCCC others(44): Show GTGAGCCCAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGAC TC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp2 others(35): Show HG00423.hp1 HG00544.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01123.hp1 HG01168.hp2 HG01261.hp1 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02132.hp1 HG02293.hp2 HG03669.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18961.hp1 NA18964.hp2 NA18969.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18993.hp1 NA18994.hp2 NA19065.hp1 NA19074.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0099 a0001c0001t0004g0003 a0001c0001t0004g0004 others(15): Show a0001c0001t0002g0099 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0010 a0001c0001t0004g0015 a0001c0001t0004g0190 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0007g0004 a0001c0001t0007g0014 a0001c0001t0007g0189 a0001c0001t0007g0191 a0001c0001t0007g0194 a0001c0001t0007g0195 a0001c0001t0007g0196	38	310	0.1226	-51	c.11 others(64): Show c.11456_*11506delTGAGCCCAGATCATGCCACTGCACTCCAGCCT GGGTGACAGAGCGAGACTC	RBBP4	ENSG00000162521.19	transcript	ENST00000373493.10	protein_coding		4950		chr1	TogoVar
RBBP7_chrX_16839341_16875362	16875051	CCTTCTTG others(44): Show CCTTCTTGGAATATGAGTTCTATAGATTCATGCTGGTGAAACACCTGGAG GT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	314	0.0032	-51	c.-50 others(62): Show c.-5049_-4999delACCTCCAGGTGTTTCACCAGCATGAATCTATAGA ACTCATATTCCAAGAAG	RBBP7	ENSG00000102054.18	transcript	ENST00000380087.7	protein_coding		4690		chrX	TogoVar
RBBP8NL_chr20_62405237_62432539	62417459	TCCCAGTC others(44): Show TCCCAGTCATCTGCACGCTCCTCTGTGACGTCTGTCCCGTCCACGCAGCC CC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03225.hp1 HG02895.hp2 HG02897.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0138 a0001c0001t0004g0037 a0001c0001t0004g0138	3	429	0.0070	-51	c.105 others(66): Show c.105-191_105-141delGGGGCTGCGTGGACGGGACAGACGTCACAG AGGAGCGTGCAGATGACTGGG	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	3/13			chr20	TogoVar
RBFOX2_chr22_35733736_36033824	35735122	ACGGATCC others(44): Show ACGGATCCAGGCTCAGAAAGCATTCCACCTGTCTGAAACTGTGCGAGACC CG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0097 a0001c0001t0009g0097	1	78	0.0128	-51	c.90 others(62): Show c.9032_*9082delCGGGTCTCGCACAGTTTCAGACAGGTGGAATGCT TTCTGAGCCTGGATCCG	RBFOX2	ENSG00000100320.24	transcript	ENST00000695854.1	protein_coding		3613		chr22	TogoVar
RBM26_chr13_79313868_79411255	79372814	TTTATAAT others(44): Show TTTATAATAAATATTTTATATAAATATATTATATATTATATAAATATAAA TA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02451.hp1 HG02486.hp2 others(6): Show HG01981.hp1 HG02451.hp1 HG02486.hp2 HG02723.hp2 HG03098.hp1 HG03130.hp1 HG03540.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0023 a0001c0002t0003 a0001c0002t0008 a0001c0002t0023	a0001c0002t0003g0184 a0001c0002t0003g0187 a0001c0002t0003g0188 others(6): Show a0001c0002t0003g0184 a0001c0002t0003g0187 a0001c0002t0003g0188 a0001c0002t0003g0189 a0001c0002t0003g0190 a0001c0002t0003g0191 a0001c0002t0003g0192 a0001c0002t0008g0186 a0001c0002t0023g0185	9	319	0.0282	-51	c.328 others(66): Show c.328-935_328-885delTATTTATATTTATATAATATATAATATATT TATATAAAATATTTATTATAA	RBM26	ENSG00000139746.16	transcript	ENST00000438737.3	protein_coding	3/21			chr13	TogoVar
RBM5_chr3_50083919_50124021	50112395	GACGGAGC others(44): Show GACGGAGCGAGACTCTGTCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GT	G G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	282	0.0035	-51	c.145 others(68): Show c.1456-987_1456-937delACGGAGCGAGACTCTGTCTAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAGT	RBM5	ENSG00000003756.17	transcript	ENST00000347869.8	protein_coding	17/24			chr3	TogoVar
RCHY1_chr4_75474033_75519403	75487745	ATATATAT others(44): Show ATATATATTCATAATATATATATTCATATATATATTCATAATATATATAT TC	A A	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0062 a0001c0001t0024g0062	1	404	0.0025	-51	c.657 others(68): Show c.657+2785_657+2835delGAATATATATATTATGAATATATATATG AATATATATATTATGAATATATA	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
REEP6_chr19_1486181_1502927	1499373	ACCCCCCA others(44): Show ACCCCCCAACCTCCCTCCCGGACGGGGGCGGCTGGCCGGGCGGGGGGCTG AC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	313	0.0032	-51	c.21 others(62): Show c.2163_*2213delCCCCCCAACCTCCCTCCCGGACGGGGGCGGCTGG CCGGGCGGGGGGCTGAC	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		1447		chr19	TogoVar
RGCC_chr13_41452550_41475871	41474128	CCAGCATC others(44): Show CCAGCATCATTTATTGAAGAGACTGTCCTTTCCCCAGTGTATGTTCTTGC CA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	446	0.0022	-51	c.36 others(62): Show c.3644_*3694delCAGCATCATTTATTGAAGAGACTGTCCTTTCCCC AGTGTATGTTCTTGCCA	RGCC	ENSG00000102760.13	transcript	ENST00000379359.4	protein_coding		3258		chr13	TogoVar
RGPD2_chr2_87750960_87830796	87825508	CCGAGGCC others(44): Show CCGAGGCCGCCGCCCGGCCGAGGCCGAGGCCGAGGCCGCCGCCCGGCCAG GT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01106.hp1 others(12): Show HG00423.hp1 HG00639.hp2 HG01106.hp1 HG01257.hp1 HG01515.hp2 HG02080.hp2 HG02451.hp2 HG02559.hp2 HG02738.hp2 HG03491.hp2 HG03492.hp1 HG04204.hp1 NA18980.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0014 a0011c0025	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0002c0003t0001 a0002c0014t0001 a0011c0025t0001	a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0087 others(11): Show a0001c0001t0001g0072 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0168 a0001c0002t0002g0037 a0001c0002t0002g0152 a0001c0002t0003g0001 a0001c0002t0003g0046 a0002c0003t0001g0127 a0002c0014t0001g0159 a0011c0025t0001g0053	15	167	0.0898	-51	c.72+ others(63): Show c.72+99_72+149delACCTGGCCGGGCGGCGGCCTCGGCCTCGGCCTC GGCCGGGCGGCGGCCTCG	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD2_chr2_87750960_87830796	87825527	GAGGCCGA others(44): Show GAGGCCGAGGCCGAGGCCGCCGCCCGGCCAGGTCGAGGCCGCCGCCCGGC CA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0005 a0001c0002t0007g0005	1	175	0.0057	-51	c.72+ others(63): Show c.72+80_72+130delTGGCCGGGCGGCGGCCTCGACCTGGCCGGGCGG CGGCCTCGGCCTCGGCCT	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS1_chr1_192570773_192585024	192584133	GAAGATTC others(44): Show GAAGATTCAGAGAGAAAATATAGTCTACTCCGAAAAGAGTGAATTTTTAT CT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	490	0.0020	-51	c.48 others(62): Show c.4812_*4862delAAGATTCAGAGAGAAAATATAGTCTACTCCGAAA AGAGTGAATTTTTATCT	RGS1	ENSG00000090104.12	transcript	ENST00000367459.8	protein_coding		4110		chr1	TogoVar
RHOT2_chr16_663132_679171	665284	AGGGACGC others(44): Show AGGGACGCACGGCCACACTCCTGTCTTTCAGCCTCAGTCTGCAGCCTGCT AG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	378	0.0026	-51	c.-29 others(62): Show c.-2915_-2865delGGGACGCACGGCCACACTCCTGTCTTTCAGCCTC AGTCTGCAGCCTGCTAG	RHOT2	ENSG00000140983.15	transcript	ENST00000315082.9	protein_coding		2847		chr16	TogoVar
RIT2_chr18_42738227_43120685	42991599	AAAAGAAA others(44): Show AAAAGAAATGAAAATGGCCTGTTCCTGCCTTAACTGATGACATTCCACCA CG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02132.hp2 HG02135.hp1 others(3): Show HG00741.hp2 HG02132.hp2 HG02135.hp1 HG03017.hp1 HG04199.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0228 a0001c0002t0001g0061 a0001c0002t0001g0123 others(3): Show a0001c0001t0002g0228 a0001c0002t0001g0061 a0001c0002t0001g0123 a0001c0002t0001g0208 a0001c0002t0002g0225 a0001c0002t0002g0229	6	238	0.0252	-51	c.161 others(70): Show c.161-17503_161-17453delCGTGGTGGAATGTCATCAGTTAAGGC AGGAACAGGCCATTTTCATTTCTTT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	2/4			chr18	TogoVar
RNF150_chr4_140854807_141138469	140999940	AAAAAGAA others(44): Show AAAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAAAGAAGAAAAGA AG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0159 a0001c0001t0066g0159	1	182	0.0055	-51	c.485 others(70): Show c.485-32118_485-32068delCTTCTTTTCTTCTTTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTTT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF150_chr4_140854807_141138469	140999993	AAAGAAGA others(44): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0139 a0001c0001t0016g0139	1	128	0.0078	-51	c.485 others(70): Show c.485-32171_485-32121delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF150_chr4_140854807_141138469	141000036	AAGAAGAA others(44): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03834.hp2 NA19030.hp1 others(1): Show HG02145.hp1 HG03834.hp2 NA19030.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0023 a0001c0001t0002 a0001c0001t0014 a0001c0001t0023	a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0014g0150 others(1): Show a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0014g0150 a0001c0001t0023g0010	4	175	0.0229	-51	c.485 others(70): Show c.485-32214_485-32164delCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF208_chr9_137215259_137227240	137217032	TTCCTCTA others(44): Show TTCCTCTAGCTCCTCCCGGTGCCCTGGGTGCTGGGTGCTGGATGGATGGG CG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01361.hp2 others(13): Show HG01167.hp1 HG01169.hp2 HG01361.hp2 HG01928.hp1 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp1 HG04199.hp1 NA18946.hp2 NA18964.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	16	387	0.0413	-51	c.33 others(62): Show c.3344_*3394delCGCCCATCCATCCAGCACCCAGCACCCAGGGCAC CGGGAGGAGCTAGAGGA	RNF208	ENSG00000212864.4	transcript	ENST00000391553.3	protein_coding		3226		chr9	TogoVar
RNF208_chr9_137215259_137227240	137217077	ATGGGCGT others(44): Show ATGGGCGTCCTCTAGCTCCTCCCGGTGCCCTGGGTGCTGGGTGCTGGATG GG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01515.hp2 others(11): Show HG01070.hp1 HG01071.hp2 HG01515.hp2 HG01884.hp1 HG02293.hp2 HG02647.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03490.hp2 HG03492.hp1 NA18906.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0001t0001g0001 a0001c0002t0001g0003	14	388	0.0361	-51	c.32 others(62): Show c.3299_*3349delCCCATCCAGCACCCAGCACCCAGGGCACCGGGAG GAGCTAGAGGACGCCCA	RNF208	ENSG00000212864.4	transcript	ENST00000391553.3	protein_coding		3181		chr9	TogoVar
RNF213_chr17_80255852_80403794	80314292	ATGGTGGT others(44): Show ATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGT GG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG02040.hp2 others(5): Show HG00438.hp1 HG00673.hp2 HG02040.hp2 HG02083.hp2 HG02132.hp1 HG03490.hp2 NA18947.hp1 NA19010.hp2	a0002 a0005 a0020 others(3): Show a0002 a0005 a0020 a0039 a0054 a0092	a0002c0002 a0002c0010 a0005c0007 others(4): Show a0002c0002 a0002c0010 a0005c0007 a0020c0026 a0039c0056 a0054c0081 a0092c0122	a0002c0002t0002 a0002c0010t0002 a0002c0010t0008 others(5): Show a0002c0002t0002 a0002c0010t0002 a0002c0010t0008 a0005c0007t0002 a0020c0026t0006 a0039c0056t0002 a0054c0081t0001 a0092c0122t0002	a0002c0002t0002g0111 a0002c0010t0002g0068 a0002c0010t0008g0206 others(5): Show a0002c0002t0002g0111 a0002c0010t0002g0068 a0002c0010t0008g0206 a0005c0007t0002g0201 a0020c0026t0006g0207 a0039c0056t0002g0152 a0054c0081t0001g0267 a0092c0122t0002g0076	8	272	0.0294	-51	c.281 others(70): Show c.2811+1132_2811+1182delTGGACGTGATGGTGGAGGTAATGGAG GTGATGGTGGTGGTGGTGGTGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314442	GAGGTAAT others(44): Show GAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGT GA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0037 a0012c0012t0037	a0012c0012t0037g0212 a0012c0012t0037g0212	1	289	0.0035	-51	c.281 others(70): Show c.2811+1276_2811+1326delAGGTAATGGAGGTGATGGTGGTGATG GTGATGGTGGAGGTACTGGAGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80314697	GAGGTACT others(44): Show GAGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGATGGT GA	G G	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0072 a0002c0002t0005g0072	1	265	0.0038	-51	c.281 others(70): Show c.2811+1531_2811+1581delAGGTACTGGAGGTGATGGTGGAGGTA ATGGAGGTGATGGTGGTGATGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80314718	GAGGTAAT others(44): Show GAGGTAATGGAGGTGATGGTGGTGATGGTGATGGTGGAGGTACTGGAGGT GA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0161 a0001c0006t0005g0161	1	288	0.0035	-51	c.281 others(70): Show c.2811+1552_2811+1602delAGGTAATGGAGGTGATGGTGGTGATG GTGATGGTGGAGGTACTGGAGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF213_chr17_80255852_80403794	80315134	GGTGATGG others(44): Show GGTGATGGTGGTAAAGGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGG AC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02056.hp2 HG01361.hp1 HG02056.hp2	a0001 a0012 a0001 a0012	a0001c0006 a0012c0012 a0001c0006 a0012c0012	a0001c0006t0005 a0012c0012t0043 a0001c0006t0005 a0012c0012t0043	a0001c0006t0005g0161 a0012c0012t0043g0213 a0001c0006t0005g0161 a0012c0012t0043g0213	2	290	0.0069	-51	c.281 others(70): Show c.2811+1978_2812-1993delTAAAGGTGATGGTGGAGGTAATGGAG GTGATGGTGGTGGACGTGATGGTGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315710	AAGTGATG others(44): Show AAGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGTGACA GT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01346.hp1 HG01346.hp2 others(13): Show HG01169.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01517.hp1 HG01934.hp1 HG01993.hp2 HG02056.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02683.hp2 HG02723.hp1 HG02976.hp2 NA18990.hp2 NA19240.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0008 a0012 a0022 a0044 a0059 a0060 a0064 a0074 a0101	a0001c0004 a0001c0006 a0001c0075 others(12): Show a0001c0004 a0001c0006 a0001c0075 a0002c0010 a0003c0005 a0005c0007 a0008c0028 a0012c0012 a0022c0022 a0044c0051 a0059c0131 a0060c0111 a0064c0144 a0074c0128 a0101c0106	a0001c0004t0002 a0001c0006t0005 a0001c0075t0013 others(12): Show a0001c0004t0002 a0001c0006t0005 a0001c0075t0013 a0002c0010t0002 a0003c0005t0006 a0005c0007t0002 a0008c0028t0009 a0012c0012t0043 a0022c0022t0003 a0044c0051t0011 a0059c0131t0003 a0060c0111t0024 a0064c0144t0002 a0074c0128t0004 a0101c0106t0009	a0001c0004t0002g0045 a0001c0006t0005g0161 a0001c0075t0013g0099 others(13): Show a0001c0004t0002g0045 a0001c0006t0005g0161 a0001c0075t0013g0099 a0002c0010t0002g0187 a0003c0005t0006g0274 a0005c0007t0002g0200 a0005c0007t0002g0205 a0008c0028t0009g0244 a0012c0012t0043g0213 a0022c0022t0003g0169 a0044c0051t0011g0110 a0059c0131t0003g0010 a0060c0111t0024g0082 a0064c0144t0002g0173 a0074c0128t0004g0168 a0101c0106t0009g0032	16	290	0.0552	-51	c.281 others(70): Show c.2812-1477_2812-1427delAGTGATGGTGGAGGTACTGGAGGTGA TGGTGGTGGTGGTGGAGGTGACAGT	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67			chr17	TogoVar
RNF32_chr7_156635774_156682130	156678788	GCCACTTC others(44): Show GCCACTTCTTGTGCCTTCTCACACATCCCTTTTTGCCTTTAAATCCACTT AA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	446	0.0022	-51	c.21 others(62): Show c.2134_*2184delCCACTTCTTGTGCCTTCTCACACATCCCTTTTTG CCTTTAAATCCACTTAA	RNF32	ENSG00000105982.17	transcript	ENST00000317955.10	protein_coding		1659		chr7	TogoVar
RNPC3_chr1_103520699_103560239	103525497	GCCGCCGT others(44): Show GCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCG CC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01168.hp1 HG01169.hp2 others(13): Show HG00733.hp1 HG01168.hp1 HG01169.hp2 HG02622.hp2 HG02965.hp1 HG03139.hp1 HG03490.hp2 HG03688.hp1 HG04115.hp2 NA18948.hp1 NA18983.hp2 NA18994.hp2 NA19001.hp1 NA19001.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0048 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0048 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0002g0044 a0001c0001t0002g0152 a0001c0002t0001g0005 a0001c0002t0001g0015 a0001c0002t0001g0019 a0001c0002t0001g0071	16	96	0.1667	-51	c.-57 others(60): Show c.-573_-523delCCGCCGTGCGCCCCGCCCCGCCGTGCGCCCCGCCCC GCCGTGCGCCCCGCC	RNPC3	ENSG00000185946.16	transcript	ENST00000423855.7	protein_coding		201		chr1	TogoVar
RPA2_chr1_27886524_27919575	27916942	CTTCCTCC others(44): Show CTTCCTCCTTCCTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	362	0.0028	-51	c.-25 others(62): Show c.-2550_-2500delAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGAAG GAAGGAGGAAGGAGGAA	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2368		chr1	TogoVar
RPH3AL_chr17_207389_357807	242300	TTACCTTC others(44): Show TTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTG AC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	74	0.0135	-51	c.613 others(68): Show c.613+4760_613+4810delGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGTAGTCAATAGAGGAAGGTA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665474	TTTCCTTT others(44): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCATGTCCTTTCCTTTCCTTTC CA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0051 a0001c0025t0051	a0001c0025t0051g0174 a0001c0025t0051g0174	1	192	0.0052	-51	c.348 others(70): Show c.348+21666_348+21716delTCCTTTCCTTTCCTTTCCTTTCCTTT CCATGTCCTTTCCTTTCCTTTCCAT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80665479	TTTCCTTT others(44): Show TTTCCTTTCCTTTCCTTTCCTTTCCATGTCCTTTCCTTTCCTTTCCATGT CC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0030 a0001c0007t0030	a0001c0007t0030g0018 a0001c0007t0030g0018	1	193	0.0052	-51	c.348 others(70): Show c.348+21672_348+21722delCCTTTCCTTTCCTTTCCTTTCCATGT CCTTTCCTTTCCTTTCCATGTCCTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748552	GTGGATGG others(44): Show GTGGATGGAGGGGCTGCGGTGTGTGTTTGGAGGCCGTGGCGGGAGGACCT GT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(66): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01884.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02273.hp1 HG02630.hp2 HG02683.hp2 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03831.hp2 NA18747.hp2 NA18944.hp1 NA18944.hp2 NA18963.hp1 NA18963.hp2 NA18980.hp1 NA18980.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19057.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19082.hp1 NA19082.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(34): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0026 a0001c0031 a0001c0032 a0001c0033 a0001c0035 a0001c0037 a0001c0055 a0001c0057 a0001c0058 a0001c0060 a0001c0072 a0001c0073 a0001c0076 a0001c0078 a0001c0080 a0001c0081 a0001c0085 a0003c0069 a0004c0082	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(62): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0092 a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0001c0002t0015 a0001c0002t0017 a0001c0002t0039 a0001c0002t0040 a0001c0003t0010 a0001c0003t0014 a0001c0003t0038 a0001c0004t0033 a0001c0006t0013 a0001c0006t0022 a0001c0008t0021 a0001c0008t0027 a0001c0008t0054 a0001c0009t0028 a0001c0010t0032 a0001c0013t0013 a0001c0013t0021 a0001c0013t0089 a0001c0014t0002 a0001c0014t0034 a0001c0017t0008 a0001c0017t0015 a0001c0018t0009 a0001c0019t0003 a0001c0019t0008 a0001c0019t0042 a0001c0020t0048 a0001c0021t0065 a0001c0022t0001 a0001c0022t0022 a0001c0023t0002 a0001c0023t0009 a0001c0024t0002 a0001c0024t0003 a0001c0024t0037 a0001c0026t0010 a0001c0026t0043 a0001c0031t0011 a0001c0032t0033 a0001c0033t0099 a0001c0035t0010 a0001c0035t0096 a0001c0037t0004 a0001c0055t0049 a0001c0057t0077 a0001c0058t0004 a0001c0060t0001 a0001c0072t0005 a0001c0073t0002 a0001c0076t0011 a0001c0078t0041 a0001c0080t0011 a0001c0081t0002 a0001c0085t0003 a0003c0069t0044 a0004c0082t0010	a0001c0001t0002g0038 a0001c0001t0008g0042 a0001c0001t0008g0043 others(66): Show a0001c0001t0002g0038 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0009g0030 a0001c0001t0015g0088 a0001c0001t0019g0049 a0001c0001t0092g0029 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0007g0136 a0001c0002t0010g0063 a0001c0002t0015g0089 a0001c0002t0017g0118 a0001c0002t0039g0091 a0001c0002t0040g0108 a0001c0003t0010g0068 a0001c0003t0014g0105 a0001c0003t0038g0090 a0001c0004t0033g0023 a0001c0006t0013g0067 a0001c0006t0022g0093 a0001c0008t0021g0094 a0001c0008t0027g0129 a0001c0008t0054g0169 a0001c0009t0028g0113 a0001c0010t0032g0058 a0001c0013t0013g0064 a0001c0013t0021g0096 a0001c0013t0089g0046 a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0014t0034g0071 a0001c0017t0008g0031 a0001c0017t0008g0066 a0001c0017t0015g0085 a0001c0018t0009g0065 a0001c0019t0003g0134 a0001c0019t0008g0037 a0001c0019t0042g0092 a0001c0020t0048g0097 a0001c0021t0065g0112 a0001c0022t0001g0170 a0001c0022t0022g0098 a0001c0023t0002g0048 a0001c0023t0009g0070 a0001c0024t0002g0047 a0001c0024t0003g0133 a0001c0024t0037g0095 a0001c0026t0010g0044 a0001c0026t0043g0099 a0001c0031t0011g0073 a0001c0032t0033g0039 a0001c0033t0099g0026 a0001c0035t0010g0062 a0001c0035t0096g0041 a0001c0037t0004g0145 a0001c0055t0049g0086 a0001c0057t0077g0016 a0001c0058t0004g0154 a0001c0060t0001g0135 a0001c0072t0005g0076 a0001c0073t0002g0069 a0001c0076t0011g0087 a0001c0078t0041g0103 a0001c0080t0011g0080 a0001c0081t0002g0022 a0001c0085t0003g0162 a0003c0069t0044g0102 a0004c0082t0010g0051	69	194	0.3557	-51	c.655 others(68): Show c.655-5446_655-5396delGCTGCGGTGTGTGTTTGGAGGCCGTGGC GGGAGGACCTGTTGGATGGAGGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80748593	GGAGGACC others(44): Show GGAGGACCTGTTGGATGGAGGGACTGTGGTGTGTGTTTAGAGGCCGTGGC GA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 NA18906.hp2 others(1): Show HG02109.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0067 a0001c0075 a0001c0005 a0001c0067 a0001c0075	a0001c0005t0026 a0001c0005t0067 a0001c0067t0068 others(1): Show a0001c0005t0026 a0001c0005t0067 a0001c0067t0068 a0001c0075t0012	a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0067t0068g0110 others(1): Show a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0067t0068g0110 a0001c0075t0012g0127	4	191	0.0209	-51	c.655 others(68): Show c.655-5403_655-5353delATGGAGGGACTGTGGTGTGTGTTTAGAG GCCGTGGCGAGAGGACCTGTTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RTP5_chr2_241864729_241878823	241866292	CGCGGGAT others(44): Show CGCGGGATGCTGAGCTGCGGGGGGATGCTGAGCTGCGGGGGATGCTGAGC TG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp2 NA18975.hp1 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0026 a0002c0002t0001g0002 a0002c0002t0001g0026	2	278	0.0072	-51	c.-34 others(62): Show c.-3464_-3414delGCGGGATGCTGAGCTGCGGGGGGATGCTGAGCTG CGGGGGATGCTGAGCTG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		3436		chr2	TogoVar
RYR2_chr1_237037184_237838988	237161488	GTCTCTAA others(44): Show GTCTCTAAGAATGCTGTTTCCACTGCATTTACATAAGGGATATATAATTT AT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03579.hp1 NA20300.hp2 HG01109.hp1 HG03579.hp1 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0011 a0001c0049 a0001c0005 a0001c0011 a0001c0049	a0001c0005t0006 a0001c0011t0004 a0001c0049t0010 a0001c0005t0006 a0001c0011t0004 a0001c0049t0010	a0001c0005t0006g0029 a0001c0011t0004g0064 a0001c0049t0010g0044 a0001c0005t0006g0029 a0001c0011t0004g0064 a0001c0049t0010g0044	3	100	0.0300	-51	c.49- others(70): Show c.49-109007_49-108957delCTCTAAGAATGCTGTTTCCACTGCAT TTACATAAGGGATATATAATTTATT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237420872	CCAAATAA others(44): Show CCAAATAATGGAAACAAATATTAAACATATTTCCAAATATTTCATTGTTT TT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG03831.hp2 HG01169.hp2 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0027 a0002c0009 a0001c0027 a0002c0009	a0001c0027t0002 a0002c0009t0002 a0001c0027t0002 a0002c0009t0002	a0001c0027t0002g0085 a0002c0009t0002g0079 a0001c0027t0002g0085 a0002c0009t0002g0079	2	100	0.0200	-51	c.849 others(68): Show c.849-2191_849-2141delTTTCCAAATATTTCATTGTTTTTCAAAT AATGGAAACAAATATTAAACATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	11/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
S1PR1_chr1_101232019_101246518	101242978	TCTGGTTT others(44): Show TCTGGTTTTAATTCAGTGTATTCTCAGAAGTAAGAATGAGAAAAAAATCT TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	-51	c.28 others(62): Show c.2846_*2896delCTGGTTTTAATTCAGTGTATTCTCAGAAGTAAGA ATGAGAAAAAAATCTTA	S1PR1	ENSG00000170989.10	transcript	ENST00000305352.7	protein_coding		1461		chr1	TogoVar
SASH1_chr6_148337838_148557044	148387566	CTCTTTCT others(44): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	C C	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0042 a0002c0002t0002g0042	1	119	0.0084	-51	c.157 others(68): Show c.157-2566_157-2516delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SBF1_chr22_50440000_50480035	50475489	GGCGATGG others(44): Show GGCGATGGGGAACAGAGAGAGAATTCAGGCCCTGCCCTTGGGGTCCCAGG CT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0041 a0001c0002t0041	a0001c0002t0041g0124 a0001c0002t0041g0124	1	400	0.0025	-51	c.-70 others(60): Show c.-700_-650delAGCCTGGGACCCCAAGGGCAGGGCCTGAATTCTCTC TCTGTTCCCCATCGC	SBF1	ENSG00000100241.22	transcript	ENST00000380817.8	protein_coding		455		chr22	TogoVar

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