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
RBM20_chr10_110639336_110844468	110767504	G G	GGGGCGGA others(33): Show GGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	264	0.0038	40	c.192 others(59): Show c.192-13261_192-13222dupCTGCCGGGCGGAGGGGCTCCTCACTT CTCAGACGGGGCGG	RBM20	ENSG00000203867.8	transcript	ENST00000369519.4	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
RBM24_chr6_17276361_17298871	17295021	C C	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	12	0.0833	40	c.29 others(51): Show c.2902_*2903insTATATATATATATATATATATATATATATATATA TATATA	RBM24	ENSG00000112183.15	transcript	ENST00000379052.10	protein_coding		1151		chr6	TogoVar
RBM42_chr19_35624036_35642685	35638908	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02523.hp1 HG00544.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	7	0.2857	40	c.13 others(51): Show c.1354_*1355insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	RBM42	ENSG00000126254.12	transcript	ENST00000262633.9	protein_coding		1224		chr19	TogoVar
RBM47_chr4_40418280_40634864	40437089	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0256 a0001c0001t0023g0256	1	255	0.0039	40	c.112 others(57): Show c.1124-443_1124-442insATATATATATATATATATATATTTTTTT TTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437089	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	255	0.0039	40	c.112 others(57): Show c.1124-443_1124-442insATATATATATATATATATATATATATTT TTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40437089	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0205 a0001c0001t0048g0205	1	255	0.0039	40	c.112 others(57): Show c.1124-443_1124-442insATATATATATATATATATATATATATAT TTTTTTTTTTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	4/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40498054	T T	TTATATAT others(33): Show TTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0006 a0002c0002t0005g0006	1	74	0.0135	40	c.-15 others(61): Show c.-154-31356_-154-31355insTATATATATATATATATATATATA TATATATATATATATA	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	2/6			chr4	TogoVar
RBM47_chr4_40418280_40634864	40573807	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19087.hp2 NA18982.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0023 a0001c0003t0031 a0001c0001t0023 a0001c0003t0031	a0001c0001t0023g0228 a0001c0003t0031g0230 a0001c0001t0023g0228 a0001c0003t0031g0230	2	101	0.0198	40	c.-23 others(61): Show c.-239-29302_-239-29301insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	RBM47	ENSG00000163694.15	transcript	ENST00000295971.12	protein_coding	1/6			chr4	TogoVar
RBM48_chr7_92523795_92545481	92540129	G G	GGGTGAGG others(33): Show GGGTGAGGGGCACCAAGGGCTGGCGTCCTGCTGCGTAGGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0014 a0001c0001t0030g0014	1	394	0.0025	40	c.31 others(51): Show c.3194_*3195insTGAGGGGCACCAAGGGCTGGCGTCCTGCTGCGTA GGATGG	RBM48	ENSG00000127993.16	transcript	ENST00000265732.10	protein_coding	5/5	3195	INFO_REALIGN_3_PRIME	chr7	TogoVar
RBMS1_chr2_160267151_160498807	160471691	G G	GTGTGTAT others(33): Show GTGTGTATGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0010 a0001c0001t0018g0010	1	177	0.0056	40	c.75+ others(57): Show c.75+21597_75+21598insTATATATATATATATATATATATATATA TATACATACACA	RBMS1	ENSG00000153250.21	transcript	ENST00000348849.8	protein_coding	1/13			chr2	TogoVar
RBMS3_chr3_29276071_30015386	29962551	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01981.hp1 HG02896.hp2 others(2): Show HG01361.hp1 HG01981.hp1 HG02896.hp2 NA18982.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0035 a0001c0001t0071 others(2): Show a0001c0001t0007 a0001c0001t0035 a0001c0001t0071 a0001c0002t0004 a0001c0002t0050	a0001c0001t0007g0080 a0001c0001t0035g0105 a0001c0001t0071g0079 others(2): Show a0001c0001t0007g0080 a0001c0001t0035g0105 a0001c0001t0071g0079 a0001c0002t0004g0092 a0001c0002t0050g0023	5	88	0.0568	40	c.109 others(61): Show c.1098+18314_1098+18315insTATATATATATATATATATATATA TATATATATATATATA	RBMS3	ENSG00000144642.22	transcript	ENST00000383767.7	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02735.hp1 HG02970.hp2 others(5): Show HG01074.hp1 HG02735.hp1 HG02970.hp2 HG03516.hp1 NA18967.hp1 NA19009.hp1 NA19083.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0108	8	17	0.4706	40	c.-11 others(51): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding		1034		chr20	TogoVar
RBPMS_chr8_30379541_30577256	30445649	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0277	1	7	0.1429	40	c.67- others(57): Show c.67-29104_67-29103insATATATATATATATATATATATATATAT ATATATATATAT	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RBPMS_chr8_30379541_30577256	30549793	T T	TCTCTCTC others(33): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0120 a0001c0001t0008g0120	1	291	0.0034	40	c.528 others(57): Show c.528+5172_528+5173insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCCCTC	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RCAN2_chr6_46215736_46496449	46367022	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02293.hp2 NA18962.hp2 HG01106.hp1 HG02293.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0055 a0001c0001t0001g0118 a0001c0001t0002g0013 a0001c0001t0001g0055 a0001c0001t0001g0118 a0001c0001t0002g0013	3	26	0.1154	40	c.225 others(59): Show c.225+89729_225+89730insATATATATATATATATATATATATAT ATATATATATATAT	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCAN2_chr6_46215736_46496449	46367053	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0117	1	157	0.0064	40	c.225 others(59): Show c.225+89698_225+89699insGATATATATATATATATATATATATA TATATATATATATA	RCAN2	ENSG00000172348.16	transcript	ENST00000371374.6	protein_coding	2/4			chr6	TogoVar
RCC2_chr1_17401760_17444677	17431357	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	379	0.0026	40	c.286 others(57): Show c.286-2159_286-2158insATATATATATATATATATATATATATAT ATATATATATAT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCHY1_chr4_75474033_75519403	75487602	C C	CATATATA others(33): Show CATATATATTCATAATATATATATTCATATATATTCATAAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0209 a0001c0001t0007g0209	1	371	0.0027	40	c.657 others(57): Show c.657+2978_657+2979insATTATGAATATATATGAATATATATATT ATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487811	A A	AATATATA others(33): Show AATATATATATTCATATATATATTCATAATATATAATTCAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	283	0.0035	40	c.657 others(57): Show c.657+2769_657+2770insATGAATTATATATTATGAATATATATAT GAATATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCSD1_chr1_167625232_167713696	167627369	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	162	0.0062	40	c.-30 others(51): Show c.-3055_-3054insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding		2862		chr1	TogoVar
REEP6_chr19_1486181_1502927	1499706	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGGGATGGCAGCCGGGAAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01169.hp2 HG01243.hp2 others(15): Show HG00639.hp2 HG01169.hp2 HG01243.hp2 HG01261.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03688.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0003 a0001c0001t0006 a0001c0003t0003 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0003t0003 a0001c0006t0006	a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0023 others(7): Show a0001c0001t0003g0011 a0001c0001t0003g0016 a0001c0001t0003g0023 a0001c0001t0003g0039 a0001c0001t0003g0046 a0001c0001t0006g0066 a0001c0001t0006g0124 a0001c0001t0006g0144 a0001c0003t0003g0047 a0001c0006t0006g0045	18	304	0.0592	40	c.24 others(51): Show c.2495_*2496insCGCTCCTCACTTCCTAGATGGGATGGCAGCCGGG AAGAGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		1780		chr19	TogoVar
REPS2_chrX_16941658_17158272	16969143	A A	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGAAGAGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0018 a0001c0001t0008g0018	1	164	0.0061	40	c.273 others(59): Show c.273+22041_273+22080dupGGGAAGAGGCGCTCCTCACTTCCTAG ATGGGATGGCGGCC	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	50	0.0200	40	c.908 others(57): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTTCTTTCTT TCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0161 a0001c0001t0007g0161	1	50	0.0200	40	c.908 others(57): Show c.908-2224_908-2185dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RER1_chr1_2386841_2410436	2401318	C C	CCCTCCTC others(33): Show CCCTCCTCCTTCCTCCCCTCCCTCCTCCTTTCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	352	0.0028	40	c.365 others(55): Show c.365+383_365+384insCCTCCTCCTTCCTCCCCTCCCTCCTCCTTT CCTCCCTCCT	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6			chr1	TogoVar
RERE_chr1_8347404_8822640	8545982	C C	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0039 a0008c0020t0039	a0008c0020t0039g0197 a0008c0020t0039g0197	1	29	0.0345	40	c.726 others(57): Show c.726-4665_726-4664insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	6/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0110 a0001c0002t0005g0110	1	40	0.0250	40	c.-14 others(61): Show c.-145+27858_-145+27859insATATATATATATATATATATATAT ATATTTTTTTTTTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERG_chr12_15102783_15226417	15161138	A A	AAAAGAAA others(33): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18939.hp2 NA18962.hp2 others(2): Show HG02040.hp1 NA18939.hp2 NA18962.hp2 NA19010.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0015 a0001c0001t0001g0151 a0001c0001t0001g0195 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0151 a0001c0001t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0269	5	78	0.0641	40	c.62- others(57): Show c.62-40059_62-40020dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	RERG	ENSG00000134533.6	transcript	ENST00000256953.6	protein_coding	2/4			chr12	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 NA18986.hp1 NA19005.hp1 HG00280.hp1 NA18986.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0003 a0001c0012t0006 a0001c0001t0003 a0001c0012t0006	a0001c0001t0003g0020 a0001c0001t0003g0145 a0001c0012t0006g0174 a0001c0001t0003g0020 a0001c0001t0003g0145 a0001c0012t0006g0174	3	294	0.0102	40	c.-28 others(51): Show c.-2894_-2893insATATATATATATATATATATATATATATATATAT ATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG00642.hp2 others(17): Show HG00558.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01074.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG02258.hp1 HG02965.hp2 HG02970.hp1 HG03491.hp1 HG04184.hp1 NA18612.hp1 NA18747.hp2 NA18947.hp2 NA19060.hp1 NA19070.hp1 NA19074.hp1 NA19079.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0001 a0002c0002 a0002c0006 others(3): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003 a0005c0010 a0007c0011	a0001c0001t0002 a0001c0001t0021 a0002c0002t0001 others(8): Show a0001c0001t0002 a0001c0001t0021 a0002c0002t0001 a0002c0002t0007 a0002c0002t0013 a0002c0002t0014 a0002c0006t0001 a0002c0006t0028 a0003c0003t0002 a0005c0010t0001 a0007c0011t0008	a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0108 others(16): Show a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0021g0103 a0002c0002t0001g0211 a0002c0002t0001g0303 a0002c0002t0007g0011 a0002c0002t0013g0283 a0002c0002t0014g0275 a0002c0006t0001g0289 a0002c0006t0001g0290 a0002c0006t0028g0291 a0003c0003t0002g0001 a0003c0003t0002g0015 a0003c0003t0002g0062 a0003c0003t0002g0116 a0003c0003t0002g0127 a0005c0010t0001g0279 a0007c0011t0008g0089	20	165	0.1212	40	c.-28 others(51): Show c.-2876_-2875insATATATATATATATATATATATATATATATATAT ATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03098.hp2 NA18906.hp2 HG02717.hp2 HG03098.hp2 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0007 a0004c0004 a0004c0007	a0004c0004t0009 a0004c0007t0009 a0004c0004t0009 a0004c0007t0009	a0004c0004t0009g0009 a0004c0007t0009g0040 a0004c0004t0009g0009 a0004c0007t0009g0040	3	376	0.0080	40	c.-28 others(51): Show c.-2875_-2874insTATATATATATATATATATATATATATATATATA TATATG	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
RETNLB_chr3_108750638_108762410	108759503	G G	GTATGTGT others(33): Show GTATGTGTATACATATATATGTATGTATGTATGTGTATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01261.hp2 HG01934.hp2 others(18): Show HG00642.hp2 HG01261.hp2 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02148.hp1 HG02293.hp1 HG02602.hp2 HG02738.hp2 HG03017.hp1 HG03490.hp1 HG03654.hp1 HG03704.hp2 HG03834.hp1 NA18950.hp1 NA18951.hp1 NA18998.hp1 NA19043.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0019 a0002c0002t0002g0004 a0001c0001t0005g0019 a0002c0002t0002g0004	21	450	0.0467	40	c.-23 others(51): Show c.-2319_-2318insTGTATACACATACATACATACATATATATGTATA CACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2094		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759610	C C	CATACGTA others(33): Show CATACGTATGTATGTGTATACATACGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 NA18964.hp2 NA18979.hp1 others(2): Show HG00597.hp2 NA18964.hp2 NA18979.hp1 NA18985.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	406	0.0123	40	c.-24 others(51): Show c.-2426_-2425insACACATACATACATACGTATGTATACACATACAT ACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2201		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759634	C C	CATACGTA others(33): Show CATACGTATGTATGTGTATACATACGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA19085.hp2 NA18999.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	414	0.0048	40	c.-24 others(51): Show c.-2450_-2449insACACATACATACATACGTATGTATACACATACAT ACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2225		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759642	T T	TGTATGTG others(33): Show TGTATGTGTATACATACGTATGTATGTATGTGTATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19066.hp1 NA19009.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	313	0.0064	40	c.-24 others(51): Show c.-2458_-2457insGTATGTATACACATACATACATACGTATGTATAC ACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2233		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759643	G G	GTATGTGT others(33): Show GTATGTGTATACATACGTATGTATGTATGTGTATACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02886.hp1 NA19090.hp2 HG02738.hp1 HG02886.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	433	0.0069	40	c.-24 others(51): Show c.-2459_-2458insTGTATGTATACACATACATACATACGTATGTATA CACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2234		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759658	C C	CATACGTA others(33): Show CATACGTATGTATGTGTATACATACGTATGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0023	40	c.-24 others(51): Show c.-2474_-2473insACACATACATACATACGTATGTATACACATACAT ACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2249		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759666	T T	TGTATGTG others(33): Show TGTATGTGTATACATACATATGTATGTGTATACATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	399	0.0025	40	c.-24 others(51): Show c.-2482_-2481insGTATGTATGTATACACATACATATGTATGTATAC ACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2257		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759667	G G	GTATGTAT others(33): Show GTATGTATGTGTATACATACGTATGTATGTGTATACATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	395	0.0025	40	c.-24 others(51): Show c.-2483_-2482insTGTATGTATACACATACATACGTATGTATACACA TACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2258		chr3	TogoVar
RETREG1_chr5_16468053_16621997	16535664	A A	AAAGTGGG others(33): Show AAAGTGGGAGCTGGGGTTCCTGTGTGCACGCTGCCTTCACG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01192.hp1 others(23): Show HG01074.hp1 HG01074.hp2 HG01192.hp1 HG01192.hp2 HG01361.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02818.hp2 HG02896.hp2 HG02976.hp1 HG02976.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp1 HG04184.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0001c0002t0002 a0001c0002t0004 a0001c0002t0018 a0001c0004t0009 a0002c0003t0005 a0003c0005t0001	a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0099 others(23): Show a0001c0001t0001g0075 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0232 a0001c0001t0003g0025 a0001c0001t0003g0027 a0001c0001t0003g0178 a0001c0001t0003g0237 a0001c0001t0008g0271 a0001c0001t0015g0041 a0001c0002t0002g0050 a0001c0002t0002g0056 a0001c0002t0002g0068 a0001c0002t0002g0120 a0001c0002t0002g0230 a0001c0002t0002g0233 a0001c0002t0002g0244 a0001c0002t0004g0250 a0001c0002t0018g0091 a0001c0004t0009g0248 a0002c0003t0005g0226 a0002c0003t0005g0243 a0003c0005t0001g0088 a0003c0005t0001g0159 a0003c0005t0001g0161 a0003c0005t0001g0166	26	211	0.1232	40	c.458 others(59): Show c.458+30098_458+30099insCGTGAAGGCAGCGTGCACACAGGAAC CCCAGCTCCCACTT	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETREG1_chr5_16468053_16621997	16535783	C C	CGAAGTGG others(33): Show CGAAGTGGGAGCTGGGGTTCCTGTGTGCACGCTGCCTTCAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	292	0.0034	40	c.458 others(59): Show c.458+29979_458+29980insCTGAAGGCAGCGTGCACACAGGAACC CCAGCTCCCACTTC	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
RETREG1_chr5_16468053_16621997	16535824	G G	GAAGTGGG others(33): Show GAAGTGGGAGCTGGGGTTCCTGTGTGCACGCTGCCTTCACA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0231 a0001c0008t0007g0231	1	289	0.0035	40	c.458 others(59): Show c.458+29938_458+29939insTGTGAAGGCAGCGTGCACACAGGAAC CCCAGCTCCCACTT	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
REV3L_chr6_111294033_111488218	111422631	C C	CATATATA others(33): Show CATATATATACACATATATATATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	267	0.0037	40	c.140 others(57): Show c.140-6160_140-6159insATATATATATATGTATATATATATATAT GTGTATATATAT	REV3L	ENSG00000009413.17	transcript	ENST00000368802.8	protein_coding	1/31			chr6	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(33): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0090 a0001c0001t0008g0090	1	81	0.0123	40	c.132 others(57): Show c.132+2884_132+2923dupCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFC2_chr7_74226502_74259399	74256147	T T	TTGAATTG others(33): Show TTGAATTGGCCATCTCTCCCCTTTTCCTTCTTTTAGCTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	324	0.0031	40	c.-17 others(51): Show c.-1765_-1764insGGCAGCTAAAAGAAGGAAAAGGGGAGAGATGGCC AATTCA	RFC2	ENSG00000049541.11	transcript	ENST00000055077.8	protein_coding		1749		chr7	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(33): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01891.hp2 HG02886.hp2 HG00558.hp1 HG01891.hp2 HG02886.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0002 a0001c0002t0007 a0003c0006t0018 a0001c0002t0002 a0001c0002t0007 a0003c0006t0018	a0001c0002t0002g0027 a0001c0002t0007g0025 a0003c0006t0018g0026 a0001c0002t0002g0027 a0001c0002t0007g0025 a0003c0006t0018g0026	3	215	0.0140	40	c.207 others(55): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTCTTTCTCT CTCTCTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124302840	A A	AGGGCCGA others(33): Show AGGGCCGAGGTCAGGGGCCGAGGTCAGAGGGCCGAGGTCAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(155): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02970.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18956.hp1 NA18959.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18998.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0034 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0020 a0001c0002t0027	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0038 others(153): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0181 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0369 a0001c0001t0004g0281 a0001c0001t0004g0360 a0001c0001t0005g0125 a0001c0001t0005g0129 a0001c0001t0005g0158 a0001c0001t0005g0159 a0001c0001t0005g0161 a0001c0001t0005g0162 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0200 a0001c0001t0005g0258 a0001c0001t0012g0275 a0001c0001t0012g0294 a0001c0001t0012g0303 a0001c0001t0012g0357 a0001c0001t0012g0363 a0001c0001t0013g0124 a0001c0001t0015g0184 a0001c0001t0015g0278 a0001c0001t0015g0279 a0001c0001t0024g0239 a0001c0001t0025g0280 a0001c0001t0026g0344 a0001c0001t0032g0189 a0001c0001t0034g0160 a0001c0002t0002g0128 a0001c0002t0004g0043 a0001c0002t0004g0127 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0183 a0001c0002t0004g0187 a0001c0002t0004g0203 a0001c0002t0004g0253 a0001c0002t0004g0259 a0001c0002t0004g0262 a0001c0002t0004g0263 a0001c0002t0004g0264 a0001c0002t0004g0265 a0001c0002t0004g0272 a0001c0002t0004g0274 a0001c0002t0004g0293 a0001c0002t0004g0295 a0001c0002t0004g0305 a0001c0002t0004g0329 a0001c0002t0004g0349 a0001c0002t0004g0351 a0001c0002t0004g0373 a0001c0002t0004g0374 a0001c0002t0004g0375 a0001c0002t0004g0376 a0001c0002t0004g0377 a0001c0002t0004g0378 a0001c0002t0007g0078 a0001c0002t0020g0238 a0001c0002t0020g0255 a0001c0002t0027g0273	158	382	0.4136	40	c.207 others(57): Show c.207+7230_207+7231insAGGGCCGAGGTCAGGGGCCGAGGTCAGG GGCCGAGGTCAG	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(33): Show TATATATACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01358.hp2 HG01192.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0018 a0001c0002t0007g0240 a0001c0001t0001g0018 a0001c0002t0007g0240	2	188	0.0106	40	c.333 others(57): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFX1_chr19_13956530_14011320	13959894	A A	AGGTGGGC others(33): Show AGGTGGGCCCAGGGCGGGCAGGGTGGGCCCAGGGCGGGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG02976.hp1 others(2): Show HG02723.hp2 HG02818.hp2 HG02976.hp1 HG03041.hp1 HG03225.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0010 a0001c0005t0001g0165 a0001c0005t0001g0166 others(1): Show a0001c0005t0001g0010 a0001c0005t0001g0165 a0001c0005t0001g0166 a0001c0005t0001g0167	5	167	0.0299	40	c.28 others(51): Show c.2800_*2801insCTGCCCGCCCTGGGCCCACCCTGCCCGCCCTGGG CCCACC	RFX1	ENSG00000132005.9	transcript	ENST00000254325.9	protein_coding		1635		chr19	TogoVar
RFX3_chr9_3213297_3531001	3366693	C C	CTTTCCTT others(33): Show CTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0054 a0001c0001t0016g0054	1	45	0.0222	40	c.118 others(59): Show c.118-19930_118-19929insAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGGAAA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	2/16			chr9	TogoVar

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