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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPL13_chr16_89555682_89569542	89565621	G G	GGCCGTGC others(24): Show GGCCGTGCCGAGTGTGGGCCGTGCCCGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0004 a0001c0002t0021g0004	1	341	0.0029	31	c.25 others(42): Show c.2579_*2580insGCCGTGCCGAGTGTGGGCCGTGCCCGAGTGT	RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding		1080		chr16	TogoVar
RPL21_chr13_27246558_27261568	27248784	T T	TTAATGAG others(24): Show TTAATGAGATTTCACACATACAGAACCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	31	c.-28 others(42): Show c.-2814_-2813insTAATGAGATTTCACACATACAGAACCCCCAC	RPL21	ENSG00000122026.11	transcript	ENST00000311549.11	protein_coding		2773		chr13	TogoVar
RPL24_chr3_101676091_101691718	101684776	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	8	0.1250	31	c.192 others(48): Show c.192+1011_192+1041dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RPL24	ENSG00000114391.14	transcript	ENST00000394077.8	protein_coding	3/5			chr3	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	62	0.0161	31	c.26 others(42): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPRD2_chr1_150359147_150481566	150388375	C C	CGTATATA others(24): Show CGTATATACACGTATTACACATGTATATACGT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0273 a0004c0006t0002g0273	1	185	0.0054	31	c.205 others(50): Show c.205+23456_205+23457insGTATATACACGTATTACACATGTATA TACGT	RPRD2	ENSG00000163125.16	transcript	ENST00000369068.5	protein_coding	1/10			chr1	TogoVar
RPS11_chr19_49491434_49504708	49493834	A A	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	19	0.0526	31	c.-26 others(42): Show c.-2623_-2622insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS11	ENSG00000142534.7	transcript	ENST00000270625.7	protein_coding		2599		chr19	TogoVar
RPS17_chr15_82531750_82545457	82535899	T T	TAGCTGGA others(24): Show TAGCTGGACTACACATGCACATCACCATGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	1	454	0.0022	31	c.90 others(40): Show c.901_*902insGGGCATGGTGATGTGCATGTGTAGTCCAGCT	RPS17	ENSG00000182774.13	transcript	ENST00000647841.1	protein_coding		850		chr15	TogoVar
RPS23_chr5_82268320_82283354	82283226	A A	AACCGGGC others(24): Show AACCGGGCCAAGCGCGCCGCTTCCGGATCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	416	0.0024	31	c.-49 others(42): Show c.-4904_-4903insCAGGATCCGGAAGCGGCGCGCTTGGCCCGGT	RPS23	ENSG00000186468.13	transcript	ENST00000296674.13	protein_coding		4873		chr5	TogoVar
RPS6KA1_chr1_26524761_26580025	26562825	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0275 a0001c0001t0008g0275	1	133	0.0075	31	c.159 others(50): Show c.1590+1189_1590+1190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RPS6KA1	ENSG00000117676.14	transcript	ENST00000374168.7	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KA2_chr6_166404364_166632251	166480477	T T	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0180 a0001c0007t0001g0180	1	216	0.0046	31	c.907 others(48): Show c.907+8355_907+8356insTATATATATATATATATATATATATATA TAT	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar
RPS6KA2_chr6_166404364_166632251	166480479	T T	TTATATAT others(24): Show TTATATATATATATAATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0045 a0001c0003t0001g0045	1	21	0.0476	31	c.907 others(48): Show c.907+8353_907+8354insTATATATATATATATATTATATATATAT ATA	RPS6KA2	ENSG00000071242.12	transcript	ENST00000265678.9	protein_coding	10/20			chr6	TogoVar
RPS6KA6_chrX_84053350_84193199	84151096	G G	GATAGATA others(24): Show GATAGATATATATAGATATATATAGGATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02630.hp1 HG00642.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0074 a0001c0001t0005 a0001c0001t0074	a0001c0001t0005g0243 a0001c0001t0074g0233 a0001c0001t0005g0243 a0001c0001t0074g0233	2	270	0.0074	31	c.259 others(48): Show c.259-3004_259-2974dupATATATCCTATATATATCTATATATATC TAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	3/21			chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01243.hp2 HG00741.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0077 a0001c0001t0001g0084	2	98	0.0204	31	c.472 others(46): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATCCATCC others(24): Show ATCCATCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01168.hp2 HG02300.hp2 HG01070.hp1 HG01168.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0029 a0002c0002t0028 a0002c0002t0029	a0002c0002t0028g0069 a0002c0002t0028g0070 a0002c0002t0029g0073 a0002c0002t0028g0069 a0002c0002t0028g0070 a0002c0002t0029g0073	3	269	0.0112	31	c.-15 others(42): Show c.-1536_-1535insTCCATCCTTCCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(24): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02572.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0038 a0001c0001t0001 a0001c0001t0038	a0001c0001t0001g0307 a0001c0001t0038g0343 a0001c0001t0001g0307 a0001c0001t0038g0343	2	254	0.0079	31	c.-15 others(42): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(24): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	253	0.0040	31	c.-15 others(42): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02683.hp2 HG01109.hp1 HG02683.hp2	a0001 a0001	a0001c0010 a0001c0073 a0001c0010 a0001c0073	a0001c0010t0032 a0001c0073t0002 a0001c0010t0032 a0001c0073t0002	a0001c0010t0032g0058 a0001c0073t0002g0069 a0001c0010t0032g0058 a0001c0073t0002g0069	2	39	0.0513	31	c.349 others(50): Show c.349-22213_349-22212insATATATATATATATATATATATATAT TTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80685627	A A	ATATATAT others(24): Show ATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	38	0.0263	31	c.349 others(50): Show c.349-22213_349-22212insATATATATATTTTTTTTTTTTTTTTT TTTTT	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	3/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RREB1_chr6_7102961_7256980	7103275	T T	TATATTAT others(24): Show TATATTATATGTTAATTAACATATAATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01943.hp1 HG02083.hp2 others(20): Show HG01243.hp1 HG01943.hp1 HG02083.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp1 HG02647.hp2 HG02735.hp2 HG02818.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG04199.hp1 HG06807.hp2 NA18939.hp1 NA18942.hp1 NA18987.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19066.hp1 NA19088.hp1 NA19240.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0006 a0007 a0009 a0012 a0037 a0039	a0001c0001 a0002c0007 a0003c0002 others(9): Show a0001c0001 a0002c0007 a0003c0002 a0005c0003 a0006c0009 a0006c0011 a0007c0005 a0007c0016 a0009c0035 a0012c0058 a0037c0070 a0039c0047	a0001c0001t0001 a0002c0007t0007 a0002c0007t0028 others(16): Show a0001c0001t0001 a0002c0007t0007 a0002c0007t0028 a0002c0007t0068 a0003c0002t0002 a0003c0002t0010 a0005c0003t0013 a0005c0003t0018 a0005c0003t0046 a0006c0009t0005 a0006c0011t0014 a0006c0011t0051 a0006c0011t0060 a0007c0005t0004 a0007c0016t0009 a0009c0035t0064 a0012c0058t0001 a0037c0070t0009 a0039c0047t0027	a0001c0001t0001g0112 a0002c0007t0007g0117 a0002c0007t0028g0125 others(20): Show a0001c0001t0001g0112 a0002c0007t0007g0117 a0002c0007t0028g0125 a0002c0007t0068g0022 a0003c0002t0002g0103 a0003c0002t0010g0068 a0005c0003t0013g0260 a0005c0003t0018g0001 a0005c0003t0046g0258 a0006c0009t0005g0247 a0006c0011t0014g0199 a0006c0011t0014g0200 a0006c0011t0014g0201 a0006c0011t0014g0202 a0006c0011t0051g0213 a0006c0011t0060g0198 a0007c0005t0004g0083 a0007c0005t0004g0105 a0007c0016t0009g0089 a0009c0035t0064g0208 a0012c0058t0001g0136 a0037c0070t0009g0016 a0039c0047t0027g0209	23	272	0.0846	31	c.-50 others(42): Show c.-5070_-5069insATATTATATGTTAATTAACATATAATATATA	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4685		chr6	TogoVar
RREB1_chr6_7102961_7256980	7103337	A A	AATATTAT others(24): Show AATATTATATGTTAATTAACATATAATATTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0023 a0023	a0023c0072 a0023c0072	a0023c0072t0077 a0023c0072t0077	a0023c0072t0077g0242 a0023c0072t0077g0242	1	285	0.0035	31	c.-50 others(42): Show c.-5008_-5007insATATTATATGTTAATTAACATATAATATTAT	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4623		chr6	TogoVar
RRM1_chr11_4089799_4143932	4130086	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0006 a0001c0003t0002g0006	1	324	0.0031	31	c.176 others(48): Show c.1769+937_1769+938insATATATATATATATATATATATATATAT ATT	RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
RRM2B_chr8_102199502_102243961	102215944	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	263	0.0038	31	c.685 others(48): Show c.685-1787_685-1786insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding	6/8			chr8	TogoVar
RRN3_chr16_15055033_15099272	15065614	C C	CTTATATT others(24): Show CTTATATTTTAATGAGTAATAGATATTATTCA	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19002.hp2 NA18971.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	2	406	0.0049	31	c.155 others(48): Show c.1554-274_1554-244dupTGAATAATATCTATTACTCATTAAAATA TAA	RRN3	ENSG00000085721.13	transcript	ENST00000198767.11	protein_coding	15/17			chr16	TogoVar
RRP12_chr10_97351701_97406340	97398039	A A	ATATATAT others(24): Show ATATATATATATATGTATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0079 a0001c0005t0001g0079	1	294	0.0034	31	c.370 others(48): Show c.370-1739_370-1738insATACATATATATATATACATATATATAT ATA	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
RSBN1L_chr7_77691459_77788022	77725243	A A	AATTTTTT others(24): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03139.hp1 HG02257.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0201 a0001c0001t0005g0202	2	330	0.0061	31	c.587 others(50): Show c.587-11167_587-11166insATTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7			chr7	TogoVar
RSBN1L_chr7_77691459_77788022	77725244	C C	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03710.hp2 NA18954.hp1 others(2): Show HG03492.hp1 HG03710.hp2 NA18954.hp1 NA19085.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0171 a0001c0001t0003g0176 others(2): Show a0001c0001t0003g0036 a0001c0001t0003g0171 a0001c0001t0003g0176 a0001c0001t0003g0180 a0001c0001t0003g0217	5	105	0.0476	31	c.587 others(50): Show c.587-11145_587-11144insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RSBN1L	ENSG00000187257.16	transcript	ENST00000334955.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSL24D1_chr15_55175806_55201941	55183112	G G	GAATTCAA others(24): Show GAATTCAATGAAGGCAAAAAAGAAACACCATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0093 a0001c0002t0004g0093	1	324	0.0031	31	c.418 others(46): Show c.418+172_418+202dupTATGGTGTTTCTTTTTTGCCTTCATTGAAT T	RSL24D1	ENSG00000137876.11	transcript	ENST00000260443.9	protein_coding	5/5			chr15	TogoVar
RSPH14_chr22_23054415_23146990	23130529	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	312	0.0032	31	c.421 others(48): Show c.421+3496_421+3497insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6			chr22	TogoVar
RSPO4_chr20_953452_1007311	979584	G G	GAGCACGC others(24): Show GAGCACGCAGACATTTCTCCCCAAGATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0285 a0001c0001t0040g0285	1	374	0.0027	31	c.80- others(48): Show c.80-11447_80-11446insTATATATCTTGGGGAGAAATGTCTGCGT GCT	RSPO4	ENSG00000101282.9	transcript	ENST00000217260.9	protein_coding	1/4			chr20	TogoVar
RSRC1_chr3_158105089_158550730	158518148	A A	ATATATAT others(24): Show ATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0013 a0003c0005t0013	a0003c0005t0013g0043 a0003c0005t0013g0043	1	96	0.0104	31	c.653 others(50): Show c.653-18943_653-18942insATATATATATATATATTTTTTTTTTT TTTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0275 a0001c0001t0013g0275	1	128	0.0078	31	c.52 others(42): Show c.5253_*5254insAAAAAAAAAAAAAAAAAAAAAAAAAATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RSRC1_chr3_158105089_158550730	158549528	A A	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 NA18982.hp2 HG03486.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0013 a0001c0001t0007 a0001c0001t0013	a0001c0001t0007g0208 a0001c0001t0013g0019 a0001c0001t0007g0208 a0001c0001t0013g0019	2	129	0.0155	31	c.52 others(42): Show c.5253_*5254insAAAAAAAAAAAAAAAAAATATATATATATAT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding		3799		chr3	TogoVar
RTL4_chrX_112078016_112462514	112226971	T T	TAAATAAA others(24): Show TAAATAAAATAAAATAAAACAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02965.hp1 others(1): Show HG02280.hp2 HG02630.hp1 HG02965.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0003t0003 a0002c0001t0001 a0001c0002t0002 a0001c0003t0003 a0002c0001t0001	a0001c0002t0002g0011 a0001c0002t0002g0035 a0001c0003t0003g0013 others(1): Show a0001c0002t0002g0011 a0001c0002t0002g0035 a0001c0003t0003g0013 a0002c0001t0001g0020	4	102	0.0392	31	c.-44 others(52): Show c.-444-79388_-444-79387insATAAAATAAAATAAAACAAAATAA AATAAAA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	2/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTL9_chrX_110353848_110461334	110378008	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0005 a0007c0007t0005	a0007c0007t0005g0010 a0007c0007t0005g0010	1	98	0.0102	31	c.-16 others(52): Show c.-168+19116_-168+19117insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	RTL9	ENSG00000243978.9	transcript	ENST00000520821.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
RTN3_chr11_63676500_63764882	63685495	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03130.hp1 HG01433.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0037 a0002c0002t0006g0144 a0002c0002t0001g0037 a0002c0002t0006g0144	2	9	0.2222	31	c.142 others(48): Show c.142+3731_142+3732insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RTN3	ENSG00000133318.14	transcript	ENST00000377819.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
RTN4IP1_chr6_106565771_106634498	106566462	G G	GGTCTTTT others(24): Show GGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0245 a0001c0001t0014g0245	1	394	0.0025	31	c.55 others(42): Show c.5533_*5534insAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding		4308		chr6	TogoVar
RUFY2_chr10_68338408_68412277	68411950	C C	CCAGCTGA others(24): Show CCAGCTGAGTGCAGATGGCGTTTACTCTTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	274	0.0036	31	c.-47 others(42): Show c.-4762_-4761insCAGAAGAGTAAACGCCATCTGCACTCAGCTG	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding		4674		chr10	TogoVar
RUNDC3B_chr7_87623398_87837296	87626450	T T	TATGTGTC others(24): Show TATGTGTCATATATGTGTCATATATATGTGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0123 a0001c0001t0008g0123	1	199	0.0050	31	c.-23 others(42): Show c.-2374_-2373insATGTGTCATATATGTGTCATATATATGTGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1947		chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87626587	T T	TATATATG others(24): Show TATATATGTCATATATGTGTCATATATATGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0170 a0001c0001t0074g0170	1	195	0.0051	31	c.-22 others(42): Show c.-2237_-2236insATATATGTCATATATGTGTCATATATATGTC	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1810		chr7	TogoVar
RUNX1_chr21_34782801_35054302	34967319	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	14	0.0714	31	c.59- others(48): Show c.59-74387_59-74357dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
RUSC1_chr1_155315894_155336114	155327933	C C	CTTGTGAT others(24): Show CTTGTGATTTGTGGTGTTGTGGACTTTTGTTG	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	316	0.0032	31	c.241 others(48): Show c.2415-215_2415-185dupTGTGATTTGTGGTGTTGTGGACTTTTGT TGT	RUSC1	ENSG00000160753.17	transcript	ENST00000368352.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
RWDD4_chr4_183634635_183664185	183643415	C C	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18978.hp2 HG00609.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0308 a0001c0001t0001g0295 a0001c0001t0001g0308	2	6	0.3333	31	c.535 others(48): Show c.535-1978_535-1948dupTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	7/7			chr4	TogoVar
RWDD4_chr4_183634635_183664185	183646386	G G	GAATTCCA others(24): Show GAATTCCAAAGGTTGTGAAGGGGAAAACAAAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	478	0.0021	31	c.532 others(44): Show c.532-64_532-34dupTTTTGTTTTCCCCTTCACAACCTTTGGAATT	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding	6/7			chr4	TogoVar
RXFP1_chr4_158516882_158658372	158542109	A A	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	25	0.0400	31	c.49+ others(48): Show c.49+20085_49+20086insATATATATATATATATATATATATATAT TTT	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RXFP2_chr13_31734526_31808389	31746767	T T	TATTATAT others(24): Show TATTATATACAGCAATATATATAATATACAGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00609.hp1 others(131): Show HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp1 NA18991.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0004 others(6): Show a0001c0001 a0001c0002 a0001c0004 a0001c0013 a0002c0003 a0003c0005 a0005c0008 a0007c0010 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0001 a0001c0013t0002 a0002c0003t0003 a0003c0005t0002 a0005c0008t0001 a0007c0010t0001 a0008c0007t0003	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(131): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0365 a0001c0001t0001g0370 a0001c0001t0002g0006 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0043 a0001c0002t0002g0057 a0001c0002t0002g0108 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0268 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0373 a0001c0004t0001g0022 a0001c0004t0001g0078 a0001c0004t0001g0079 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0084 a0001c0004t0001g0086 a0001c0004t0001g0115 a0001c0004t0001g0116 a0001c0004t0001g0117 a0001c0004t0001g0118 a0001c0004t0001g0119 a0001c0004t0001g0120 a0001c0004t0001g0121 a0001c0004t0001g0127 a0001c0004t0001g0278 a0001c0004t0001g0279 a0001c0004t0001g0280 a0001c0004t0001g0281 a0001c0013t0002g0014 a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0031 a0002c0003t0003g0046 a0002c0003t0003g0050 a0002c0003t0003g0051 a0002c0003t0003g0052 a0002c0003t0003g0053 a0002c0003t0003g0054 a0002c0003t0003g0055 a0002c0003t0003g0056 a0002c0003t0003g0058 a0002c0003t0003g0059 a0002c0003t0003g0060 a0002c0003t0003g0061 a0002c0003t0003g0062 a0002c0003t0003g0063 a0002c0003t0003g0065 a0002c0003t0003g0066 a0002c0003t0003g0067 a0002c0003t0003g0068 a0002c0003t0003g0069 a0002c0003t0003g0070 a0002c0003t0003g0071 a0002c0003t0003g0072 a0002c0003t0003g0073 a0002c0003t0003g0074 a0002c0003t0003g0075 a0002c0003t0003g0076 a0002c0003t0003g0077 a0002c0003t0003g0085 a0002c0003t0003g0087 a0002c0003t0003g0091 a0002c0003t0003g0092 a0002c0003t0003g0093 a0002c0003t0003g0096 a0002c0003t0003g0104 a0002c0003t0003g0106 a0002c0003t0003g0122 a0002c0003t0003g0220 a0002c0003t0003g0221 a0002c0003t0003g0285 a0002c0003t0003g0368 a0002c0003t0003g0369 a0002c0003t0003g0372 a0003c0005t0002g0107 a0003c0005t0002g0228 a0003c0005t0002g0229 a0005c0008t0001g0083 a0007c0010t0001g0049 a0008c0007t0003g0064	134	383	0.3499	31	c.94+ others(46): Show c.94+7062_94+7063insTTATATACAGCAATATATATAATATACAGC A	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RXFP2_chr13_31734526_31808389	31759446	A A	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	384	0.0026	31	c.241 others(48): Show c.241+1042_241+1043insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	2/17			chr13	TogoVar
RXFP2_chr13_31734526_31808389	31776102	T T	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	75	0.0133	31	c.641 others(46): Show c.641+715_641+716insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0011 a0011	a0011c0063 a0011c0063	a0011c0063t0001 a0011c0063t0001	a0011c0063t0001g0126 a0011c0063t0001g0126	1	79	0.0127	31	c.983 others(50): Show c.9830+1201_9830+1202insATATATATATATATATATATTTTTTT TTTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(24): Show AGGGGGTGGGGGGAGGGGGGGGCGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02071.hp1 NA18956.hp2 others(2): Show HG00140.hp1 HG02071.hp1 NA18956.hp2 NA19057.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0002t0001g0122 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0002t0001g0122	5	45	0.1111	31	c.-1- others(44): Show c.-1-977_-1-976insCCCCCCCCCGCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(24): Show AGGGGGTGGGGGGAGGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp2 HG01070.hp1 others(38): Show HG00597.hp2 HG00738.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01361.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02148.hp1 HG02280.hp1 HG02572.hp2 HG02809.hp1 HG03130.hp1 HG03209.hp2 HG03492.hp1 HG03516.hp1 HG03927.hp2 HG04204.hp1 HG06807.hp1 NA18952.hp1 NA18954.hp1 NA18961.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18974.hp1 NA18980.hp2 NA18990.hp1 NA19000.hp1 NA19060.hp2 NA19067.hp1 NA19068.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0046 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0046 a0001c0001t0001g0111 a0001c0001t0001g0185 a0001c0001t0006g0094 a0001c0002t0001g0093 a0001c0002t0001g0123 a0001c0002t0002g0013 a0001c0002t0002g0060 a0001c0002t0002g0175 a0001c0002t0003g0209	41	81	0.5062	31	c.-1- others(44): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar

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