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
RGMA_chr15_93030271_93094211	93089305	CGGGCCGG others(35): Show CGGGCCGGGCGCCCGGGCCGCGGGCGGGGGGCGCGCGCGGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00597.hp2 others(65): Show HG00140.hp1 HG00438.hp1 HG00597.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01258.hp1 HG01516.hp2 HG01975.hp1 HG02027.hp2 HG02040.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18952.hp2 NA18955.hp1 NA18956.hp1 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18998.hp1 NA19002.hp1 NA19004.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19067.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0006 a0003c0005 a0006c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0020 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0097 a0001c0001t0115 a0001c0001t0131 a0001c0001t0134 a0001c0001t0142 a0001c0001t0149 a0001c0001t0163 a0001c0001t0166 a0001c0001t0208 a0001c0001t0220 a0001c0002t0003 a0001c0002t0008 a0001c0002t0017 a0001c0002t0036 a0001c0002t0044 a0001c0002t0046 a0001c0002t0093 a0001c0002t0094 a0001c0002t0095 a0001c0002t0104 a0001c0002t0162 a0001c0002t0196 a0001c0002t0213 a0001c0004t0021 a0001c0004t0041 a0001c0004t0070 a0001c0004t0167 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0003t0010 a0002c0003t0011 a0002c0003t0028 a0002c0003t0031 a0002c0003t0032 a0002c0003t0045 a0002c0003t0109 a0002c0003t0205 a0002c0003t0215 a0002c0003t0217 a0002c0006t0005 a0002c0006t0089 a0002c0006t0105 a0002c0006t0179 a0003c0005t0039 a0006c0018t0106	a0001c0001t0001g0229 a0001c0001t0002g0214 a0001c0001t0002g0237 others(64): Show a0001c0001t0001g0229 a0001c0001t0002g0214 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0003g0199 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0248 a0001c0001t0009g0202 a0001c0001t0009g0242 a0001c0001t0013g0201 a0001c0001t0013g0256 a0001c0001t0020g0008 a0001c0001t0050g0217 a0001c0001t0051g0042 a0001c0001t0052g0222 a0001c0001t0054g0245 a0001c0001t0097g0206 a0001c0001t0115g0220 a0001c0001t0131g0213 a0001c0001t0134g0246 a0001c0001t0142g0241 a0001c0001t0149g0200 a0001c0001t0163g0251 a0001c0001t0166g0227 a0001c0001t0208g0207 a0001c0001t0220g0258 a0001c0002t0003g0212 a0001c0002t0003g0228 a0001c0002t0008g0232 a0001c0002t0017g0230 a0001c0002t0017g0254 a0001c0002t0017g0369 a0001c0002t0036g0204 a0001c0002t0044g0379 a0001c0002t0046g0208 a0001c0002t0046g0247 a0001c0002t0093g0223 a0001c0002t0094g0020 a0001c0002t0095g0021 a0001c0002t0104g0253 a0001c0002t0162g0377 a0001c0002t0196g0196 a0001c0002t0213g0255 a0001c0004t0021g0216 a0001c0004t0041g0259 a0001c0004t0070g0231 a0001c0004t0167g0378 a0002c0003t0005g0234 a0002c0003t0006g0367 a0002c0003t0008g0225 a0002c0003t0010g0261 a0002c0003t0011g0198 a0002c0003t0028g0257 a0002c0003t0031g0203 a0002c0003t0032g0249 a0002c0003t0045g0368 a0002c0003t0109g0197 a0002c0003t0205g0022 a0002c0003t0215g0252 a0002c0003t0217g0239 a0002c0006t0005g0224 a0002c0006t0089g0236 a0002c0006t0105g0226 a0002c0006t0179g0233 a0003c0005t0039g0243 a0006c0018t0106g0037	68	412	0.1650	-42	c.-41 others(51): Show c.-415_-374delCGCCCGCGCGCGCCCCCCGCCCGCGGCCCGGGCGCC CGGCCC		RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding					95		chr15	TogoVar
RGS11_chr16_263307_280944	264520	AGACATAG others(35): Show AGACATAGAGCTCCAGGCACGGTCACTCTGACAGCAGTGTCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01175.hp2 HG01255.hp1 others(1): Show HG00733.hp2 HG01175.hp2 HG01255.hp1 HG03492.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0002 a0002c0005t0002 a0001c0002t0002 a0002c0005t0002	a0001c0002t0002g0168 a0002c0005t0002g0013 a0002c0005t0002g0135 a0001c0002t0002g0168 a0002c0005t0002g0013 a0002c0005t0002g0135	4	454	0.0088	-42	c.47 others(53): Show c.4707_*4748delAGGACACTGCTGTCAGAGTGACCGTGCCTGGAGC TCTATGTC		RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding					3786		chr16	TogoVar
RGS13_chr1_192631147_192665311	192641212	GAAAGAAA others(35): Show GAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG03041.hp1 others(7): Show HG02630.hp1 HG02886.hp1 HG03041.hp1 HG03209.hp2 NA18949.hp1 NA18991.hp1 NA19059.hp1 NA19060.hp2 NA19089.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0040 a0001c0001t0003g0041 others(2): Show a0001c0001t0003g0003 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0140	10	418	0.0239	-42	c.-5+ others(57): Show c.-5+3019_-5+3060delGAGAAAGAAAGAAAGAAAGAAAGAAAAGAA AGAAAAGAAAGA		RGS13	ENSG00000127074.15	transcript	ENST00000391995.7	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS18_chr1_192153462_192190815	192183162	TTATAAAA others(35): Show TTATAAAAAGGCAGCTAGTTGTATTGTGTTATGGACAAGGGGA	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	334	0.0030	-42	c.451 others(59): Show c.451-1134_451-1093delTATAAAAAGGCAGCTAGTTGTATTGTGT TATGGACAAGGGGA		RGS18	ENSG00000150681.10	transcript	ENST00000367460.4	protein_coding	4/4						chr1	TogoVar
RHBDL1_chr16_670671_683268	676055	AGGGCGGG others(35): Show AGGGCGGGCAGCTGGCTGGTCTTGGACCTTGGCCCTCGCTTTC	A A	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	369	0.0027	-42	c.39+ others(55): Show c.39+227_40-239delGGGCGGGCAGCTGGCTGGTCTTGGACCTTGGC CCTCGCTTTC		RHBDL1	ENSG00000103269.14	transcript	ENST00000352681.8	protein_coding	1/7						chr16	TogoVar
RHOC_chr1_112696131_112712127	112706452	CACACACA others(35): Show CACACACACACACCACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01515.hp1 HG00738.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	424	0.0047	-42	c.-77 others(57): Show c.-77+584_-77+625delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG GTGTGTGTGTGT		RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5						chr1	TogoVar
RHOC_chr1_112696131_112712127	112706454	CACACACA others(35): Show CACACACACACCACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00621.hp2 others(80): Show HG00099.hp2 HG00280.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01943.hp1 HG01975.hp1 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02148.hp1 HG02258.hp1 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG03098.hp1 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04228.hp2 NA18522.hp1 NA18940.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18962.hp2 NA18963.hp2 NA18968.hp2 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18995.hp2 NA18997.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19056.hp1 NA19063.hp2 NA19065.hp2 NA19074.hp2 NA19081.hp1 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0045 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0065 a0001c0001t0006g0048	83	307	0.2704	-42	c.-77 others(57): Show c.-77+582_-77+623delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGGTGTGTGTGT		RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5						chr1	TogoVar
RHOC_chr1_112696131_112712127	112706456	CACACACA others(35): Show CACACACACCACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02976.hp1 HG01934.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0001 a0001c0001t0001g0044	2	411	0.0049	-42	c.-77 others(57): Show c.-77+580_-77+621delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGGTGTGTGT		RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5						chr1	TogoVar
RHOC_chr1_112696131_112712127	112706460	CACACCAC others(35): Show CACACCACACACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	423	0.0024	-42	c.-77 others(57): Show c.-77+576_-77+617delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGGTGT		RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5						chr1	TogoVar
RHOQ_chr2_46537490_46589688	46546470	ATATGTGT others(35): Show ATATGTGTATATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01081.hp1 HG01106.hp1 others(17): Show HG00558.hp1 HG01081.hp1 HG01106.hp1 HG01975.hp1 HG01993.hp2 HG02080.hp2 HG02257.hp2 HG02273.hp1 HG03098.hp2 HG03491.hp1 HG03540.hp1 NA18956.hp1 NA18971.hp2 NA18979.hp2 NA18999.hp2 NA19057.hp2 NA19070.hp1 NA19082.hp2 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016	a0001c0001t0001g0009 a0001c0001t0001g0213 a0001c0001t0001g0216 others(17): Show a0001c0001t0001g0009 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0005g0199 a0001c0001t0005g0267 a0001c0001t0006g0185 a0001c0001t0006g0233 a0001c0001t0016g0194	20	326	0.0613	-42	c.201 others(59): Show c.201+2662_201+2703delGTGTATATATATATATATATATATATAT ATATATATATGTAT		RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
RHOT2_chr16_663132_679171	676055	AGGGCGGG others(35): Show AGGGCGGGCAGCTGGCTGGTCTTGGACCTTGGCCCTCGCTTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	377	0.0027	-42	c.24 others(53): Show c.2450_*2491delGGGCGGGCAGCTGGCTGGTCTTGGACCTTGGCCC TCGCTTTC		RHOT2	ENSG00000140983.15	transcript	ENST00000315082.9	protein_coding					1885		chr16	TogoVar
RILPL1_chr12_123465054_123538719	123511581	GGTGGTGT others(35): Show GGTGGTGTGAGGTCTGTGTGTGTGGTGTGTGTGAGGTCTGTGT	G G	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	208	0.0048	-42	c.460 others(61): Show c.460+11872_460+11913delACACAGACCTCACACACACCACACAC ACAGACCTCACACCAC		RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6						chr12	TogoVar
RILP_chr17_1641150_1654866	1654534	AATGGCCA others(35): Show AATGGCCAAGAGTCAGACTGAAGCCCTAAAACAGGGATGCTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	374	0.0027	-42	c.-47 others(53): Show c.-4772_-4731delGAAGCATCCCTGTTTTAGGGCTTCAGTCTGACTC TTGGCCAT		RILP	ENSG00000167705.12	transcript	ENST00000301336.7	protein_coding					4669		chr17	TogoVar
RIMBP3B_chr22_21378751_21394478	21379157	AGTTTTGA others(35): Show AGTTTTGACCTGCTCCTTTTCGTTTTCCTTTTTCTTTCTTTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA20129.hp2 NA18747.hp2 NA20129.hp2	a0001 a0070 a0001 a0070	a0001c0005 a0070c0017 a0001c0005 a0070c0017	a0001c0005t0003 a0070c0017t0002 a0001c0005t0003 a0070c0017t0002	a0001c0005t0003g0000 a0070c0017t0002g0000 a0001c0005t0003g0000 a0070c0017t0002g0000	2	88	0.0227	-42	c.-47 others(53): Show c.-4701_-4660delGTTTTGACCTGCTCCTTTTCGTTTTCCTTTTTCT TTCTTTCT		RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding					4593		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21392768	AAAAGAAA others(35): Show AAAAGAAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0056 a0056	a0056c0037 a0056c0037	a0056c0037t0001 a0056c0037t0001	a0056c0037t0001g0000 a0056c0037t0001g0000	1	118	0.0085	-42	c.39 others(53): Show c.3991_*4032delAAAGAAAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGG		RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding					3291		chr22	TogoVar
RIMS1_chr6_71881550_72408145	72275120	GTATATAT others(35): Show GTATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0057 a0001c0001t0009g0057	1	3	0.3333	-42	c.348 others(59): Show c.3482+708_3482+749delATATATATATATATATATATATATATAT ATATATATATATAT		RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	23/33					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIN3_chr14_92508781_92693994	92542293	AAAAAGGC others(35): Show AAAAAGGCCAAAAATGAACAGATGCTCAATATCAATAGCCACC	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0225 a0002c0002t0001g0225	1	332	0.0030	-42	c.45- others(59): Show c.45-13457_45-13416delAAAAGGCCAAAAATGAACAGATGCTCAA TATCAATAGCCACC		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9						chr14	TogoVar
RIOK2_chr5_97155867_97188247	97179995	ATATATAT others(35): Show ATATATATATTATATATATATAATATATATATAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0012 a0005c0006t0012	a0005c0006t0012g0064 a0005c0006t0012g0064	1	408	0.0025	-42	c.67- others(55): Show c.67-844_67-803delATATATATATTATATATATATTATATATATAT AATATATATA		RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9						chr5	TogoVar
RIT2_chr18_42738227_43120685	42809816	ATATATAT others(35): Show ATATATATAATATATATATAATTTGTATATATGTTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	238	0.0042	-42	c.427 others(61): Show c.427-66138_427-66097delATATATATAACATATATACAAATTAT ATATATATTATATATA		RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	4/4						chr18	TogoVar
RNASET2_chr6_166917113_166961550	166955330	CGCACGCA others(35): Show CGCACGCACACGCACACGCACGCACACACACACGCACACACAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00544.hp2 others(112): Show HG00099.hp2 HG00544.hp1 HG00544.hp2 HG00642.hp2 HG00673.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18987.hp1 NA18989.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19055.hp2 NA19058.hp1 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0015 a0001c0016 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(58): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0035 a0001c0001t0042 a0001c0001t0044 a0001c0001t0048 a0001c0001t0050 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0002t0029 a0001c0002t0031 a0001c0002t0088 a0001c0002t0089 a0001c0002t0090 a0001c0002t0092 a0001c0002t0094 a0001c0002t0096 a0001c0002t0099 a0001c0002t0100 a0001c0003t0001 a0001c0003t0017 a0001c0003t0033 a0001c0003t0034 a0001c0003t0047 a0001c0003t0111 a0001c0003t0112 a0001c0003t0131 a0001c0003t0175 a0001c0007t0001 a0001c0007t0010 a0001c0015t0001 a0001c0016t0029 a0002c0004t0015 a0002c0004t0080 a0002c0004t0082 a0002c0004t0084	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0163 a0001c0001t0004g0012 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0006g0089 a0001c0001t0010g0120 a0001c0001t0012g0115 a0001c0001t0012g0150 a0001c0001t0013g0010 a0001c0001t0014g0092 a0001c0001t0014g0102 a0001c0001t0014g0126 a0001c0001t0020g0116 a0001c0001t0020g0130 a0001c0001t0022g0117 a0001c0001t0022g0127 a0001c0001t0023g0135 a0001c0001t0024g0124 a0001c0001t0025g0160 a0001c0001t0025g0161 a0001c0001t0026g0145 a0001c0001t0026g0153 a0001c0001t0035g0016 a0001c0001t0042g0132 a0001c0001t0044g0134 a0001c0001t0048g0096 a0001c0001t0050g0093 a0001c0001t0053g0091 a0001c0001t0055g0159 a0001c0001t0057g0087 a0001c0001t0058g0083 a0001c0001t0060g0149 a0001c0001t0061g0095 a0001c0001t0062g0166 a0001c0001t0063g0138 a0001c0001t0068g0111 a0001c0001t0069g0103 a0001c0001t0070g0162 a0001c0001t0071g0081 a0001c0001t0072g0121 a0001c0001t0074g0118 a0001c0001t0075g0146 a0001c0001t0076g0148 a0001c0002t0029g0084 a0001c0002t0031g0009 a0001c0002t0088g0108 a0001c0002t0089g0128 a0001c0002t0090g0110 a0001c0002t0092g0098 a0001c0002t0094g0155 a0001c0002t0096g0156 a0001c0002t0099g0086 a0001c0002t0100g0158 a0001c0003t0001g0006 a0001c0003t0017g0007 a0001c0003t0017g0104 a0001c0003t0033g0139 a0001c0003t0033g0140 a0001c0003t0034g0099 a0001c0003t0047g0101 a0001c0003t0111g0105 a0001c0003t0112g0106 a0001c0003t0131g0232 a0001c0003t0175g0317 a0001c0007t0001g0142 a0001c0007t0010g0143 a0001c0015t0001g0112 a0001c0016t0029g0141 a0002c0004t0015g0136 a0002c0004t0080g0133 a0002c0004t0082g0129 a0002c0004t0084g0119	115	344	0.3343	-42	c.86+ others(55): Show c.86+725_86+766delTTGTGTGTGCGTGTGTGTGTGCGTGCGTGTGC GTGTGCGTGC		RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8						chr6	TogoVar
RNF10_chr12_120529356_120582588	120553038	GTTTTTTT others(35): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00438.hp1 others(51): Show HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00673.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01943.hp1 HG01975.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02129.hp2 HG02258.hp2 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02698.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03688.hp1 HG03704.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18961.hp2 NA18967.hp1 NA18986.hp1 NA18989.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp1 NA19006.hp2 NA19065.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19081.hp1 NA19240.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0006c0008t0001g0056	54	114	0.4737	-42	c.554 others(57): Show c.554+362_554+403delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT		RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF150_chr4_140854807_141138469	141000045	AAGAAGAA others(35): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0172 a0002c0002t0003g0172	1	182	0.0055	-42	c.485 others(61): Show c.485-32214_485-32173delCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCT		RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6						chr4	TogoVar
RNF152_chr18_61803067_61898007	61896777	GATTCAAG others(35): Show GATTCAAGCATTCAACTCGATGTGGAATAACCACCCCCATCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0216 a0001c0002t0005g0216	1	308	0.0032	-42	c.-41 others(53): Show c.-4160_-4119delAGGATGGGGGTGGTTATTCCACATCGAGTTGAAT GCTTGAAT		RNF152	ENSG00000176641.11	transcript	ENST00000312828.4	protein_coding					3771		chr18	TogoVar
RNF181_chr2_85590745_85602708	85599176	GCCACCAG others(35): Show GCCACCAGTGTGTCTGAGGAGACTGCCCCAAACTCGTAGCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	396	0.0025	-42	c.16 others(53): Show c.1673_*1714delCCACCAGTGTGTCTGAGGAGACTGCCCCAAACTC GTAGCTGA		RNF181	ENSG00000168894.10	transcript	ENST00000306368.9	protein_coding					1469		chr2	TogoVar
RNF185_chr22_31155182_31212019	31184052	TCGGGGGC others(35): Show TCGGGGGCTGCCCCTCCCTTCCCGGACGGGGCGGCTGGCCGGG	T T	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	376	0.0027	-42	c.-48 others(59): Show c.-48-2982_-48-2941delCTCCCTTCCCGGACGGGGCGGCTGGCCG GGCGGGGGCTGCCC		RNF185	ENSG00000138942.17	transcript	ENST00000326132.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
RNF213_chr17_80255852_80403794	80314079	GTGGAGGT others(35): Show GTGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG06807.hp1 others(1): Show HG01168.hp2 HG01169.hp2 HG06807.hp1 NA19030.hp2	a0011 a0011	a0011c0036 a0011c0037 a0011c0036 a0011c0037	a0011c0036t0012 a0011c0036t0033 a0011c0037t0012 a0011c0036t0012 a0011c0036t0033 a0011c0037t0012	a0011c0036t0012g0281 a0011c0036t0033g0282 a0011c0037t0012g0280 others(1): Show a0011c0036t0012g0281 a0011c0036t0033g0282 a0011c0037t0012g0280 a0011c0037t0012g0283	4	287	0.0139	-42	c.281 others(59): Show c.2811+913_2811+954delTGGAGGTGATGGTGGAGGTACTGGAGGT GATGGTGGTGGTGA		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67						chr17	TogoVar
RNF213_chr17_80255852_80403794	80314292	ATGGTGGT others(35): Show ATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGG	A A	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0155 a0002c0002t0002g0155	1	265	0.0038	-42	c.281 others(61): Show c.2811+1135_2811+1176delACGTGATGGTGGAGGTAATGGAGGTG ATGGTGGTGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314606	GGTGGTGG others(35): Show GGTGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGCGGTC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 HG02071.hp1 others(2): Show HG00741.hp1 HG01891.hp1 HG02071.hp1 HG02647.hp2 HG03831.hp2	a0001 a0002 a0047 others(1): Show a0001 a0002 a0047 a0067	a0001c0001 a0002c0002 a0047c0102 others(1): Show a0001c0001 a0002c0002 a0047c0102 a0067c0130	a0001c0001t0001 a0002c0002t0039 a0047c0102t0002 others(1): Show a0001c0001t0001 a0002c0002t0039 a0047c0102t0002 a0067c0130t0002	a0001c0001t0001g0257 a0001c0001t0001g0264 a0002c0002t0039g0254 others(2): Show a0001c0001t0001g0257 a0001c0001t0001g0264 a0002c0002t0039g0254 a0047c0102t0002g0020 a0067c0130t0002g0012	5	290	0.0172	-42	c.281 others(61): Show c.2811+1444_2811+1485delTGGTGGTGGTGGTGGAGGTACTGGAG GTGATGGCGGTCGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314887	TGGAGGTG others(35): Show TGGAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0048 a0048	a0048c0136 a0048c0136	a0048c0136t0014 a0048c0136t0014	a0048c0136t0014g0011 a0048c0136t0014g0011	1	281	0.0036	-42	c.281 others(61): Show c.2811+1723_2811+1764delAGGTGATGGTGGAGGTACTGGAGGTG ATGGTGGTGGTGAAGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315396	GTGGTGGT others(35): Show GTGGTGGTGGTACTGGAGGTGATGGTGGAGGTAATGGAGGTGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp2 HG01257.hp1 others(1): Show HG01081.hp1 HG01192.hp2 HG01257.hp1 HG03209.hp2	a0001 a0002 a0012 others(1): Show a0001 a0002 a0012 a0079	a0001c0076 a0002c0010 a0012c0012 others(1): Show a0001c0076 a0002c0010 a0012c0012 a0079c0133	a0001c0076t0010 a0002c0010t0005 a0012c0012t0042 others(1): Show a0001c0076t0010 a0002c0010t0005 a0012c0012t0042 a0079c0133t0062	a0001c0076t0010g0211 a0002c0010t0005g0186 a0012c0012t0042g0221 others(1): Show a0001c0076t0010g0211 a0002c0010t0005g0186 a0012c0012t0042g0221 a0079c0133t0062g0008	4	280	0.0143	-42	c.281 others(61): Show c.2812-1781_2812-1740delACTGGAGGTGATGGTGGAGGTAATGG AGGTGATGGTGGTGGT		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF38_chr9_36331400_36405269	36341793	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03195.hp2 HG03486.hp1 others(1): Show HG01496.hp2 HG03195.hp2 HG03486.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0035 a0001c0001t0005g0026 a0001c0001t0005g0028 others(1): Show a0001c0001t0004g0035 a0001c0001t0005g0026 a0001c0001t0005g0028 a0001c0001t0005g0029	4	375	0.0107	-42	c.148 others(59): Show c.1485+490_1485+531delATATATATATATATATATATATATATAT ATATATATATATAT		RNF38	ENSG00000137075.18	transcript	ENST00000259605.11	protein_coding	11/11						chr9	TogoVar
RNGTT_chr6_88604897_88968618	88739725	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00609.hp1 others(26): Show HG00099.hp2 HG00408.hp2 HG00609.hp1 HG00733.hp2 HG01258.hp1 HG01516.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG02015.hp2 HG02027.hp1 HG02273.hp2 HG02293.hp2 HG02572.hp2 HG03017.hp1 HG03492.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 NA18960.hp1 NA18966.hp1 NA18969.hp1 NA18974.hp1 NA18981.hp1 NA18998.hp2 NA19005.hp1 NA19009.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0013 a0002c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0037 others(26): Show a0001c0001t0001g0009 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0167 a0001c0001t0001g0207 a0001c0001t0002g0052 a0001c0001t0002g0166 a0001c0001t0003g0079 a0001c0001t0013g0042 a0002c0003t0001g0046	29	61	0.4754	-42	c.143 others(63): Show c.1439+30007_1439+30048delTATATATATATATATATATATATA TATATATATATATATATA		RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	13/15						chr6	TogoVar
RNPEP_chr1_201977648_202011143	201977855	TTTATACC others(35): Show TTTATACCTAGGTATTTGTGAACTATACCTAGGTATTTGTGAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(168): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00544.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19057.hp2 NA19059.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0019 a0002c0002 a0004c0008 a0005c0011 a0007c0016	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0019t0001 a0002c0002t0001 a0002c0002t0002 a0004c0008t0002 a0005c0011t0001 a0007c0016t0002	a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0026 others(126): Show a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0252 a0001c0001t0001g0280 a0001c0001t0001g0293 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0273 a0001c0003t0001g0010 a0001c0003t0001g0024 a0001c0003t0001g0025 a0001c0003t0001g0041 a0001c0003t0001g0066 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0131 a0001c0003t0001g0132 a0001c0003t0001g0133 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0231 a0001c0003t0001g0235 a0001c0003t0001g0249 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0001g0283 a0001c0003t0001g0285 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0004t0001g0124 a0001c0004t0001g0130 a0001c0004t0001g0135 a0001c0004t0001g0136 a0001c0004t0001g0137 a0001c0004t0001g0138 a0001c0004t0001g0139 a0001c0004t0001g0141 a0001c0004t0001g0288 a0001c0004t0001g0291 a0001c0006t0001g0232 a0001c0006t0001g0276 a0001c0006t0001g0281 a0001c0019t0001g0350 a0002c0002t0001g0203 a0002c0002t0001g0260 a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0011 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0032 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0038 a0002c0002t0002g0053 a0002c0002t0002g0069 a0002c0002t0002g0123 a0002c0002t0002g0222 a0002c0002t0002g0230 a0002c0002t0002g0236 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0282 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0290 a0002c0002t0002g0292 a0002c0002t0002g0294 a0004c0008t0002g0284 a0005c0011t0001g0033 a0007c0016t0002g0233	171	452	0.3783	-42	c.-48 others(53): Show c.-4811_-4770delTTATACCTAGGTATTTGTGAACTATACCTAGGTA TTTGTGAA		RNPEP	ENSG00000176393.11	transcript	ENST00000295640.9	protein_coding					4792		chr1	TogoVar
ROBO2_chr3_77035099_77654964	77200267	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp2 HG02895.hp1 others(6): Show HG02451.hp1 HG02809.hp2 HG02895.hp1 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 NA18522.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0002 a0005c0007 others(1): Show a0001c0001 a0001c0002 a0005c0007 a0006c0005	a0001c0001t0002 a0001c0001t0014 a0001c0001t0025 others(4): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0025 a0001c0002t0007 a0001c0002t0019 a0005c0007t0002 a0006c0005t0002	a0001c0001t0002g0002 a0001c0001t0002g0128 a0001c0001t0014g0082 others(6): Show a0001c0001t0002g0002 a0001c0001t0002g0128 a0001c0001t0014g0082 a0001c0001t0025g0078 a0001c0002t0007g0115 a0001c0002t0007g0117 a0001c0002t0019g0111 a0005c0007t0002g0083 a0006c0005t0002g0088	9	74	0.1216	-42	c.388 others(63): Show c.388+101941_388+101982delATATATATATATATATATATATAT ATATATATATATATATAT		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
RORA_chr15_60483284_61234302	60597591	TATACACA others(35): Show TATACACATATATATATATATATATATACATACATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03486.hp1 HG01891.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0036 a0001c0001t0002 a0001c0001t0036	a0001c0001t0002g0042 a0001c0001t0036g0102 a0001c0001t0002g0042 a0001c0001t0036g0102	2	109	0.0183	-42	c.197 others(61): Show c.197-65782_197-65741delGTATATATATGTATGTATATATATAT ATATATATATGTGTAT		RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10						chr15	TogoVar
RPL13_chr16_89555682_89569542	89566268	AAGGCGCT others(35): Show AAGGCGCTAGTCTCCTGCCCCGGTGATCGGGGATAGTCTCAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-42	c.32 others(53): Show c.3227_*3268delAGGCGCTAGTCTCCTGCCCCGGTGATCGGGGATA GTCTCAGG		RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding					1727		chr16	TogoVar
RPS3_chr11_75394518_75411907	75410525	GCTCCTCA others(35): Show GCTCCTCATATCCCAGACGATGGGCGGCCAGGCAGAGACGCTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	-42	c.49 others(53): Show c.4916_*4957delCTCCTCATATCCCAGACGATGGGCGGCCAGGCAG AGACGCTC		RPS3	ENSG00000149273.15	transcript	ENST00000531188.6	protein_coding					3619		chr11	TogoVar
RPS6KA2_chr6_166404364_166632251	166510554	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp1 NA18982.hp1 HG02922.hp1 HG02976.hp1 NA18982.hp1	a0001 a0001	a0001c0004 a0001c0015 a0001c0036 a0001c0004 a0001c0015 a0001c0036	a0001c0004t0001 a0001c0015t0010 a0001c0036t0002 a0001c0004t0001 a0001c0015t0010 a0001c0036t0002	a0001c0004t0001g0242 a0001c0015t0010g0041 a0001c0036t0002g0050 a0001c0004t0001g0242 a0001c0015t0010g0041 a0001c0036t0002g0050	3	36	0.0833	-42	c.299 others(57): Show c.299-239_299-198delATATATATATATATATATATATATATATAT ATATATATATAT		RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	3/20						chr6	TogoVar
RPS6KA5_chr14_90842861_91065641	91044350	AGAAAGAA others(35): Show AGAAAGAAAGAAAGAGAAAGAAAGAAGGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(28): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00642.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01255.hp2 HG01346.hp2 HG01891.hp1 HG01993.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02273.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02738.hp2 HG02976.hp1 HG03471.hp2 HG03834.hp2 HG04204.hp2 NA18950.hp1 NA18962.hp2 NA18966.hp1 NA18991.hp2 NA19004.hp2 NA19055.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(26): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0032 a0001c0001t0041 a0001c0001t0055 a0001c0001t0058 a0001c0001t0064 a0001c0001t0076 a0001c0001t0082 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0001c0001t0115 a0001c0001t0140 a0001c0001t0143 a0001c0001t0168 a0001c0001t0170 a0001c0001t0179 a0001c0001t0184 a0001c0001t0192 a0001c0001t0211 a0001c0001t0218 a0001c0001t0219 a0001c0001t0234	a0001c0001t0003g0023 a0001c0001t0003g0061 a0001c0001t0003g0083 others(28): Show a0001c0001t0003g0023 a0001c0001t0003g0061 a0001c0001t0003g0083 a0001c0001t0004g0085 a0001c0001t0006g0123 a0001c0001t0007g0026 a0001c0001t0009g0065 a0001c0001t0013g0011 a0001c0001t0017g0100 a0001c0001t0032g0118 a0001c0001t0041g0024 a0001c0001t0055g0047 a0001c0001t0058g0032 a0001c0001t0064g0099 a0001c0001t0076g0022 a0001c0001t0082g0043 a0001c0001t0087g0111 a0001c0001t0088g0046 a0001c0001t0090g0028 a0001c0001t0115g0113 a0001c0001t0140g0095 a0001c0001t0143g0234 a0001c0001t0168g0018 a0001c0001t0170g0093 a0001c0001t0179g0003 a0001c0001t0184g0004 a0001c0001t0192g0009 a0001c0001t0211g0117 a0001c0001t0218g0051 a0001c0001t0219g0121 a0001c0001t0234g0031	31	304	0.1020	-42	c.103 others(61): Show c.103+15940_103+15981delCTTCTTTCTTTCTTTCCTTCTTTCTT TCTCTTTCTTTCTTTC		RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16						chr14	TogoVar
RPS6KC1_chr1_213046241_213279774	213119425	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00733.hp2 others(24): Show HG00639.hp2 HG00642.hp2 HG00733.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01943.hp1 HG02056.hp2 HG02109.hp1 HG02257.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02895.hp2 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03579.hp2 NA18966.hp2 NA18985.hp2 NA18987.hp1 NA19079.hp2 NA19240.hp1 NA20300.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0003c0003t0001 a0004c0004t0005	a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0042 others(24): Show a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0114 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0003g0275 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0289 a0001c0001t0003g0317 a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0007g0224 a0001c0001t0007g0277 a0003c0003t0001g0212 a0004c0004t0005g0270	27	105	0.2571	-42	c.472 others(59): Show c.472+2048_472+2089delATATATATATATATATATATATATATAT ATATATATATATAT		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPTN_chr1_152148595_152164228	152154764	CGTCTTCA others(35): Show CGTCTTCATGGGTTTGCCTGTCTCGTCTCTGACGGTTCTGCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18949.hp1 NA18949.hp1	a0018 a0018	a0018c0019 a0018c0019	a0018c0019t0001 a0018c0019t0001	a0018c0019t0001g0061 a0018c0019t0001g0061	1	420	0.0024	-42	c.229 others(51): Show c.2293_2334delAAGCAGAACCGTCAGAGACGAGACAGGCAAACCCAT GAAGAC	p.Lys others(13): Show p.Lys765_Asp778del	RPTN	ENSG00000215853.3	transcript	ENST00000316073.3	protein_coding	3/3	2399/3569	2293/2355	765/784			chr1	TogoVar
RPTOR_chr17_80539838_80971368	80841048	GCACGGCA others(35): Show GCACGGCAGCTCACATTCACCACACGGCAACTCACTCTCACCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(39): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG01074.hp2 HG01258.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02602.hp1 HG02683.hp1 HG02683.hp2 HG02886.hp2 HG02976.hp2 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp2 HG03834.hp1 HG06807.hp1 NA18944.hp2 NA18980.hp1 NA18980.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19057.hp1 NA19057.hp2 NA19082.hp2 NA19088.hp1 NA20300.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(24): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0023 a0001c0024 a0001c0028 a0001c0029 a0001c0031 a0001c0033 a0001c0034 a0001c0035 a0001c0044 a0001c0047 a0001c0068 a0001c0078 a0001c0081 a0001c0083 a0001c0084 a0004c0082	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(37): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0003t0004 a0001c0003t0010 a0001c0004t0014 a0001c0006t0013 a0001c0006t0022 a0001c0008t0021 a0001c0009t0028 a0001c0010t0009 a0001c0010t0032 a0001c0010t0095 a0001c0013t0013 a0001c0013t0021 a0001c0013t0089 a0001c0014t0002 a0001c0014t0034 a0001c0017t0008 a0001c0018t0016 a0001c0023t0007 a0001c0023t0009 a0001c0024t0003 a0001c0028t0019 a0001c0029t0025 a0001c0031t0011 a0001c0033t0023 a0001c0033t0099 a0001c0034t0004 a0001c0035t0010 a0001c0035t0096 a0001c0044t0045 a0001c0047t0012 a0001c0068t0025 a0001c0078t0041 a0001c0081t0002 a0001c0083t0028 a0001c0084t0059 a0004c0082t0010	a0001c0001t0002g0038 a0001c0001t0008g0042 a0001c0001t0008g0043 others(39): Show a0001c0001t0002g0038 a0001c0001t0008g0042 a0001c0001t0008g0043 a0001c0001t0009g0030 a0001c0001t0019g0056 a0001c0003t0004g0119 a0001c0003t0010g0068 a0001c0004t0014g0084 a0001c0004t0014g0101 a0001c0006t0013g0067 a0001c0006t0022g0093 a0001c0008t0021g0094 a0001c0009t0028g0113 a0001c0010t0009g0057 a0001c0010t0032g0058 a0001c0010t0095g0053 a0001c0013t0013g0064 a0001c0013t0021g0096 a0001c0013t0089g0046 a0001c0014t0002g0055 a0001c0014t0034g0071 a0001c0017t0008g0031 a0001c0018t0016g0120 a0001c0023t0007g0132 a0001c0023t0009g0070 a0001c0024t0003g0133 a0001c0028t0019g0024 a0001c0029t0025g0153 a0001c0031t0011g0073 a0001c0033t0023g0078 a0001c0033t0099g0026 a0001c0034t0004g0191 a0001c0035t0010g0062 a0001c0035t0096g0041 a0001c0044t0045g0083 a0001c0047t0012g0150 a0001c0068t0025g0107 a0001c0078t0041g0103 a0001c0081t0002g0022 a0001c0083t0028g0158 a0001c0084t0059g0165 a0004c0082t0010g0051	42	194	0.2165	-42	c.121 others(61): Show c.1212+3065_1212+3106delATTCACCACACGGCAACTCACTCTCA CCACACGGCAGCTCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80841146	TCTCACCG others(35): Show TCTCACCGCACGGCAGCTCACTCTCACCGCACGGCAGCTCACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02647.hp1 others(11): Show HG01884.hp2 HG02055.hp1 HG02647.hp1 HG02886.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03516.hp1 HG03540.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0001c0006 others(8): Show a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0016 a0001c0020 a0001c0053 a0001c0057 a0001c0070 a0002c0063	a0001c0004t0035 a0001c0005t0026 a0001c0005t0083 others(9): Show a0001c0004t0035 a0001c0005t0026 a0001c0005t0083 a0001c0006t0063 a0001c0007t0030 a0001c0011t0029 a0001c0016t0029 a0001c0020t0093 a0001c0053t0006 a0001c0057t0077 a0001c0070t0020 a0002c0063t0020	a0001c0004t0035g0004 a0001c0005t0026g0109 a0001c0005t0026g0151 others(11): Show a0001c0004t0035g0004 a0001c0005t0026g0109 a0001c0005t0026g0151 a0001c0005t0083g0017 a0001c0006t0063g0160 a0001c0007t0030g0018 a0001c0007t0030g0020 a0001c0011t0029g0196 a0001c0016t0029g0184 a0001c0020t0093g0034 a0001c0053t0006g0122 a0001c0057t0077g0016 a0001c0070t0020g0003 a0002c0063t0020g0001	14	134	0.1045	-42	c.121 others(61): Show c.1212+3191_1212+3232delACTCACCGCACGGCAGCTCACTCTCA CCGCACGGCAGCTCAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	10/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80896457	ACACGGCC others(35): Show ACACGGCCGCACCGACACATCCCACGGCCGCACCGACACACCC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp1 others(1): Show HG00741.hp2 HG01070.hp2 HG01071.hp1 HG03831.hp1	a0001 a0001	a0001c0014 a0001c0017 a0001c0052 a0001c0014 a0001c0017 a0001c0052	a0001c0014t0002 a0001c0017t0008 a0001c0052t0003 a0001c0014t0002 a0001c0017t0008 a0001c0052t0003	a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0017t0008g0066 others(1): Show a0001c0014t0002g0032 a0001c0014t0002g0033 a0001c0017t0008g0066 a0001c0052t0003g0149	4	194	0.0206	-42	c.240 others(61): Show c.2401+2610_2401+2651delATCCCACGGCCGCACCGACACACCCC ACGGCCGCACCGACAC		RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	20/33					INFO_REALIGN_3_PRIME	chr17	TogoVar
RRH_chr4_109822972_109849942	109849122	TTGCCCAA others(35): Show TTGCCCAATTTATGTCTTATAACTTTAAACAAATAAATAATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	-42	c.49 others(53): Show c.4926_*4967delTGCCCAATTTATGTCTTATAACTTTAAACAAATA AATAATAA		RRH	ENSG00000180245.7	transcript	ENST00000317735.7	protein_coding					4181		chr4	TogoVar
RSPO4_chr20_953452_1007311	959150	AGTGCGGT others(35): Show AGTGCGGTGATGGGTGTGGGCAAGTGTGGGGGTGGGTGTCAGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00673.hp1 others(44): Show HG00438.hp2 HG00621.hp1 HG00673.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp1 HG01496.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02109.hp1 HG02258.hp1 HG02559.hp2 HG02602.hp2 HG03471.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18999.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 others(3): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 a0001c0001t0043 a0001c0001t0051 a0001c0001t0054	a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0009 others(26): Show a0001c0001t0004g0002 a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0004g0040 a0001c0001t0004g0206 a0001c0001t0004g0207 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0231 a0001c0001t0007g0012 a0001c0001t0007g0019 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0076 a0001c0001t0007g0077 a0001c0001t0007g0084 a0001c0001t0007g0098 a0001c0001t0007g0143 a0001c0001t0007g0151 a0001c0001t0007g0155 a0001c0001t0026g0041 a0001c0001t0043g0264 a0001c0001t0051g0163 a0001c0001t0054g0288	47	374	0.1257	-42	c.11 others(53): Show c.1165_*1206delGCTGACACCCACCCCCACACTTGCCCACACCCAT CACCGCAC		RSPO4	ENSG00000101282.9	transcript	ENST00000217260.9	protein_coding	5/5				1165		chr20	TogoVar
RSU1_chr10_16585611_16822424	16594744	ATATAAAA others(35): Show ATATAAAATATACTATATTATCTATTATATATCATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0007 a0001c0001t0030g0007	1	188	0.0053	-42	c.732 others(59): Show c.732-1290_732-1249delATATATATATGATATATAATAGATAATA TAGTATATTTTATA		RSU1	ENSG00000148484.18	transcript	ENST00000345264.10	protein_coding	8/8						chr10	TogoVar
RTEL1_chr20_63653312_63701245	63678853	GGAACAGC others(35): Show GGAACAGCAGACTCTCCCACGGAACAGCACACACACTCCCACA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03130.hp1 NA18522.hp1 HG02630.hp1 HG03130.hp1 NA18522.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0001c0014 a0011c0008 a0001c0001 a0001c0014 a0011c0008	a0001c0001t0001 a0001c0014t0002 a0011c0008t0001 a0001c0001t0001 a0001c0014t0002 a0011c0008t0001	a0001c0001t0001g0040 a0001c0014t0002g0006 a0011c0008t0001g0026 a0001c0001t0001g0040 a0001c0014t0002g0006 a0011c0008t0001g0026	3	58	0.0517	-42	c.103 others(59): Show c.1037+510_1037+551delACAGCAGACTCTCCCACGGAACAGCACA CACACTCCCACAGA		RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	12/34					INFO_REALIGN_3_PRIME	chr20	TogoVar
RTL3_chrX_78651068_78664328	78663162	AGCAGGAG others(35): Show AGCAGGAGAGATGGGGAAAGACAAGATGGAGGGAGAAGCGGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	320	0.0031	-42	c.-41 others(53): Show c.-4172_-4131delCCCCGCTTCTCCCTCCATCTTGTCTTTCCCCATC TCTCCTGC		RTL3	ENSG00000179300.4	transcript	ENST00000321110.2	protein_coding					3835		chrX	TogoVar
RTN1_chr14_59590983_59875776	59749735	ATATATAT others(35): Show ATATATATATCTATATGTATATTTATATATCTATATGTATATT	A A	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG03195.hp2 HG03540.hp1 others(3): Show HG01358.hp1 HG03195.hp2 HG03540.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0009 a0002c0002 a0007c0009	a0002c0002t0001 a0002c0002t0003 a0007c0009t0001 a0002c0002t0001 a0002c0002t0003 a0007c0009t0001	a0002c0002t0001g0109 a0002c0002t0001g0163 a0002c0002t0003g0007 others(3): Show a0002c0002t0001g0109 a0002c0002t0001g0163 a0002c0002t0003g0007 a0002c0002t0003g0128 a0002c0002t0003g0129 a0007c0009t0001g0171	6	170	0.0353	-42	c.242 others(59): Show c.242-3296_242-3255delAATATACATATAGATATATAAATATACA TATAGATATATATA		RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8						chr14	TogoVar

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