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
RCC1L_chr7_75037183_75078802	75072155	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01099.hp1 HG01109.hp1 others(7): Show HG00609.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01517.hp1 HG02257.hp2 HG03139.hp2 NA18747.hp1 NA19077.hp2 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0002	a0001c0001t0001g0192 a0001c0001t0002g0191 a0002c0002t0002g0011 others(6): Show a0001c0001t0001g0192 a0001c0001t0002g0191 a0002c0002t0002g0011 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0003c0003t0002g0076	10	270	0.0370	20	c.324 others(37): Show c.324+1258_324+1259insATATATATATATATATATAT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCC1L_chr7_75037183_75078802	75072161	C C	CATATACA others(13): Show CATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	270	0.0037	20	c.324 others(37): Show c.324+1252_324+1253insATATATATATATATGTATAT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCC1L_chr7_75037183_75078802	75072161	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG04204.hp2 HG01934.hp1 HG04204.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0002 a0001c0001t0002 a0005c0006t0002	a0001c0001t0002g0195 a0005c0006t0002g0093 a0001c0001t0002g0195 a0005c0006t0002g0093	2	270	0.0074	20	c.324 others(37): Show c.324+1233_324+1252dupATATATATATATATATATAT	RCC1L	ENSG00000274523.5	transcript	ENST00000610322.5	protein_coding	1/10			chr7	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	294	0.0034	20	c.52 others(31): Show c.5232_*5233insAAAAAAAAATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAAAA others(13): Show AAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	294	0.0034	20	c.52 others(31): Show c.5232_*5233insAAAAAAATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AAAAAATA others(13): Show AAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA19089.hp2 NA18993.hp1 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0197 a0001c0002t0001g0055 a0001c0002t0001g0197	2	294	0.0068	20	c.52 others(31): Show c.5232_*5233insAAAAATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC1_chr1_28501043_28543989	28543239	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	294	0.0034	20	c.52 others(31): Show c.5232_*5233insATATATATATATATATATAT	RCC1	ENSG00000180198.17	transcript	ENST00000683442.1	protein_coding		4251		chr1	TogoVar
RCC2_chr1_17401760_17444677	17431355	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0353 a0001c0001t0008g0353	1	390	0.0026	20	c.286 others(37): Show c.286-2157_286-2156insATATATATATATATATATAT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	AAAATATA others(13): Show AAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	390	0.0026	20	c.286 others(37): Show c.286-2161_286-2160insATATATATATATATATATTT	RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12			chr1	TogoVar
RCOR1_chr14_102587649_102735561	102653920	C C	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18967.hp1 HG02976.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0109 a0001c0001t0003g0023 a0001c0001t0001g0109 a0001c0001t0003g0023	2	292	0.0069	20	c.362 others(39): Show c.362-27928_362-27909dupCTTTCTTTCTTTCTTTCTTT	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCOR1_chr14_102587649_102735561	102692710	C C	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01928.hp2 HG02257.hp2 others(2): Show HG00423.hp2 HG01928.hp2 HG02257.hp2 NA18906.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0001 a0001c0001t0002 a0001c0001t0009	a0001c0001t0001g0100 a0001c0001t0002g0164 a0001c0001t0002g0207 others(2): Show a0001c0001t0001g0100 a0001c0001t0002g0164 a0001c0001t0002g0207 a0001c0001t0002g0224 a0001c0001t0009g0148	5	292	0.0171	20	c.446 others(37): Show c.446-8541_446-8522dupCTTCCTTCCTTCCTTCCTTC	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RCSD1_chr1_167625232_167713696	167630721	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	350	0.0029	20	c.6+3 others(31): Show c.6+305_6+324dupAAAAAAAAAAAAAAAAAAAA	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCSD1_chr1_167625232_167713696	167701252	G G	GTTTCTTT others(13): Show GTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01516.hp1 HG01516.hp2 others(13): Show HG00280.hp2 HG01516.hp1 HG01516.hp2 HG02280.hp1 HG03927.hp1 HG03942.hp2 HG04228.hp2 NA18939.hp1 NA18946.hp2 NA18951.hp2 NA18959.hp1 NA18960.hp1 NA18969.hp1 NA18994.hp1 NA19081.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0047 a0003c0004t0025	a0001c0001t0001g0186 a0001c0001t0001g0254 a0001c0001t0002g0145 others(13): Show a0001c0001t0001g0186 a0001c0001t0001g0254 a0001c0001t0002g0145 a0001c0001t0002g0169 a0001c0001t0002g0176 a0001c0001t0003g0053 a0001c0001t0003g0130 a0001c0001t0003g0135 a0001c0001t0003g0140 a0001c0001t0003g0161 a0001c0001t0003g0284 a0001c0001t0004g0086 a0001c0001t0007g0142 a0001c0001t0010g0248 a0001c0001t0047g0065 a0003c0004t0025g0034	16	350	0.0457	20	c.121 others(39): Show c.1219-3364_1219-3345dupCTTTCTTTCTTTCTTTCTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RCSD1_chr1_167625232_167713696	167701252	G G	GTTTGTTT others(13): Show GTTTGTTTGTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19056.hp1 NA18979.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0177 a0001c0001t0014g0202 a0001c0001t0014g0177 a0001c0001t0014g0202	2	350	0.0057	20	c.121 others(39): Show c.1219-3409_1219-3408insGTTTGTTTCTTTCTTTCTTT	RCSD1	ENSG00000198771.11	transcript	ENST00000367854.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RDH13_chr19_55039316_55068148	55063065	G G	GTCAGGCG others(13): Show GTCAGGCGTCCGGGGTCGGCT	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0032 a0001c0001t0020g0032	1	377	0.0027	20	c.-34 others(27): Show c.-34_-33insAGCCGACCCCGGACGCCTGA	RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding	1/7	34		chr19	TogoVar
RDH8_chr19_10008483_10027279	10020340	A A	AGGAGGGA others(13): Show AGGAGGGAGGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03239.hp1 HG03710.hp1 HG02148.hp2 HG03239.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0151 a0002c0003t0001g0116 a0002c0003t0001g0149 a0001c0001t0002g0151 a0002c0003t0001g0116 a0002c0003t0001g0149	3	464	0.0065	20	c.443 others(35): Show c.443-367_443-348dupGAGGGAGGGAGGGAGGGAGG	RDH8	ENSG00000080511.5	transcript	ENST00000591589.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
RDH8_chr19_10008483_10027279	10020358	G G	GAGGGAGC others(13): Show GAGGGAGCGAGGGAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00621.hp1 others(22): Show HG00140.hp2 HG00609.hp2 HG00621.hp1 HG01074.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01943.hp2 HG01952.hp1 HG02015.hp1 HG02280.hp2 HG02293.hp2 HG02723.hp2 HG03942.hp2 NA18747.hp1 NA18968.hp2 NA18978.hp2 NA19080.hp2 NA19091.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0015 a0003c0005 a0002c0015 a0003c0005	a0002c0015t0002 a0003c0005t0002 a0003c0005t0003 a0002c0015t0002 a0003c0005t0002 a0003c0005t0003	a0002c0015t0002g0124 a0003c0005t0002g0005 a0003c0005t0003g0005 others(6): Show a0002c0015t0002g0124 a0003c0005t0002g0005 a0003c0005t0003g0005 a0003c0005t0003g0028 a0003c0005t0003g0119 a0003c0005t0003g0120 a0003c0005t0003g0121 a0003c0005t0003g0122 a0003c0005t0003g0136	25	464	0.0539	20	c.443 others(35): Show c.443-348_443-347insGAGCGAGGGAGGAAGGAAGG	RDH8	ENSG00000080511.5	transcript	ENST00000591589.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
RECK_chr9_36031913_36129455	36048126	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp2 NA18986.hp2 others(1): Show HG01109.hp2 HG02257.hp2 NA18986.hp2 NA18997.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0002c0005t0001 a0001c0001t0001 a0001c0001t0002 a0002c0005t0001	a0001c0001t0001g0009 a0001c0001t0001g0330 a0001c0001t0002g0351 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0330 a0001c0001t0002g0351 a0002c0005t0001g0247	4	392	0.0102	20	c.101 others(37): Show c.101-4124_101-4105dupATATATATATATATATATAT	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36061393	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	392	0.0026	20	c.271 others(37): Show c.271+1264_271+1283dupCACACACACACACACACACA	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36073241	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	392	0.0026	20	c.406 others(37): Show c.406-7346_406-7327dupCACACACACACACACACACA	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	6/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECK_chr9_36031913_36129455	36082152	T T	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02132.hp1 HG03041.hp2 others(8): Show HG01952.hp1 HG02132.hp1 HG03041.hp2 NA18951.hp2 NA18952.hp1 NA18967.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19087.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0005 others(1): Show a0001c0002 a0002c0003 a0002c0005 a0002c0011	a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 others(1): Show a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 a0002c0011t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0002c0003t0001g0242 others(8): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0002c0003t0001g0242 a0002c0003t0001g0244 a0002c0003t0001g0276 a0002c0003t0001g0279 a0002c0005t0001g0247 a0002c0005t0001g0248 a0002c0005t0001g0259 a0002c0005t0001g0261 a0002c0011t0001g0277	11	392	0.0281	20	c.440 others(37): Show c.440-1196_440-1177dupTCTCTCTCTCTCTCTCTCTC	RECK	ENSG00000122707.12	transcript	ENST00000377966.4	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr9	TogoVar
RECQL_chr12_21463910_21506635	21467974	T T	TTATCTTA others(13): Show TTATCTTATTCAGTCCTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG02055.hp1 HG02559.hp2 others(8): Show HG00741.hp2 HG02055.hp1 HG02559.hp2 HG02809.hp2 HG02818.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03225.hp1 NA18906.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0032 a0001c0001t0039 others(1): Show a0001c0001t0009 a0001c0001t0032 a0001c0001t0039 a0001c0001t0052	a0001c0001t0009g0018 a0001c0001t0009g0207 a0001c0001t0009g0208 others(6): Show a0001c0001t0009g0018 a0001c0001t0009g0207 a0001c0001t0009g0208 a0001c0001t0009g0210 a0001c0001t0009g0248 a0001c0001t0009g0253 a0001c0001t0032g0061 a0001c0001t0039g0194 a0001c0001t0052g0255	11	404	0.0272	20	c.22 others(31): Show c.2200_*2219dupGAAGAGGACTGAATAAGATA	RECQL	ENSG00000004700.16	transcript	ENST00000444129.7	protein_coding		935		chr12	TogoVar
REEP1_chr2_86208993_86342626	86288032	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0071 a0001c0001t0021g0071	1	320	0.0031	20	c.33- others(35): Show c.33-5791_33-5790insAAAAAAAAAAAAAAAAAAAA	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	1/8			chr2	TogoVar
REEP3_chr10_63516401_63630128	63533710	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00673.hp2 others(28): Show HG00099.hp2 HG00140.hp1 HG00673.hp2 HG01070.hp1 HG01261.hp2 HG01884.hp1 HG01934.hp2 HG02074.hp2 HG02280.hp2 HG02572.hp2 HG02717.hp1 HG03139.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18942.hp1 NA18946.hp2 NA18957.hp2 NA18966.hp2 NA18975.hp1 NA18980.hp2 NA18994.hp1 NA18999.hp2 NA19001.hp1 NA19012.hp1 NA19054.hp1 NA19067.hp1 NA19074.hp2 NA19077.hp1 NA19082.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0018 a0001c0001t0029 a0001c0001t0037 a0001c0001t0074 a0001c0001t0075	a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 others(28): Show a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0138 a0001c0001t0003g0135 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0003g0152 a0001c0001t0004g0146 a0001c0001t0005g0136 a0001c0001t0005g0153 a0001c0001t0009g0127 a0001c0001t0009g0137 a0001c0001t0009g0151 a0001c0001t0011g0122 a0001c0001t0011g0148 a0001c0001t0018g0134 a0001c0001t0029g0204 a0001c0001t0037g0156 a0001c0001t0074g0154 a0001c0001t0075g0145	31	284	0.1092	20	c.32+ others(37): Show c.32+12148_32+12149insTTTTTTTTTTTTTTTTTTTT	REEP3	ENSG00000165476.14	transcript	ENST00000373758.5	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
REEP5_chr5_112871385_112927227	112893094	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0321 a0001c0001t0013g0321	1	340	0.0029	20	c.352 others(37): Show c.352-5931_352-5912dupTTTTTTTTTTTTTTTTTTTT	REEP5	ENSG00000129625.13	transcript	ENST00000379638.9	protein_coding	3/4			chr5	TogoVar
REEP6_chr19_1486181_1502927	1493708	G G	GACACACA others(13): Show GACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp2 HG00621.hp1 others(36): Show HG00423.hp1 HG00558.hp2 HG00621.hp1 HG01070.hp1 HG01175.hp2 HG01346.hp1 HG01496.hp1 HG01884.hp2 HG02056.hp1 HG02132.hp1 HG02155.hp2 HG02523.hp1 HG02523.hp2 HG02895.hp2 HG02896.hp1 HG03098.hp2 HG03225.hp1 HG03669.hp2 HG03942.hp2 NA18522.hp2 NA18942.hp2 NA18945.hp1 NA18948.hp1 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18972.hp2 NA18983.hp2 NA18988.hp2 NA19004.hp1 NA19005.hp2 NA19012.hp2 NA19064.hp1 NA19065.hp1 NA19074.hp2 NA19240.hp2 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0002c0002t0002 a0003c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0130 others(21): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0154 a0001c0001t0002g0007 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0060 a0001c0001t0002g0067 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0004g0134 a0001c0001t0008g0007 a0001c0001t0014g0138 a0002c0002t0002g0008 a0002c0002t0002g0033 a0002c0002t0002g0128 a0002c0002t0002g0129 a0003c0004t0001g0014	39	318	0.1226	20	c.116 others(37): Show c.116-1581_116-1562dupACACACACACACACACACAC	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011756	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01993.hp2 HG01496.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0079 a0001c0001t0001g0056 a0001c0001t0001g0079	2	382	0.0052	20	c.164 others(35): Show c.164-157_164-138dupTGTGTGTGTGTGTGTGTGTG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	382	0.0026	20	c.164 others(35): Show c.164-120_164-101dupGAGAGAGAGAGAGAGAGAGA	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGAGAG others(13): Show TGTGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	382	0.0026	20	c.164 others(35): Show c.164-138_164-137insTGAGAGAGAGAGAGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGAG others(13): Show TGTGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03710.hp2 HG03704.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0244 a0001c0001t0001g0004 a0001c0001t0001g0244	2	382	0.0052	20	c.164 others(35): Show c.164-138_164-137insTGTGAGAGAGAGAGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(13): Show TGTGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG02523.hp2 others(1): Show HG00597.hp2 HG00609.hp2 HG02523.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0024 a0001c0001t0001g0073 a0001c0001t0001g0247 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0073 a0001c0001t0001g0247 a0001c0001t0002g0148	4	382	0.0105	20	c.164 others(35): Show c.164-138_164-137insTGTGTGAGAGAGAGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(13): Show TGTGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18997.hp1 NA19055.hp1 HG02056.hp1 NA18997.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0293 a0001c0001t0001g0301 a0001c0001t0001g0049 a0001c0001t0001g0293 a0001c0001t0001g0301	3	382	0.0079	20	c.164 others(35): Show c.164-138_164-137insTGTGTGTGAGAGAGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01069.hp1 HG00609.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0326 a0001c0001t0001g0074 a0001c0001t0001g0326	2	382	0.0052	20	c.164 others(35): Show c.164-138_164-137insTGTGTGTGTGAGAGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01515.hp2 HG01517.hp1 others(2): Show HG01257.hp1 HG01515.hp2 HG01517.hp1 NA18962.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0082 a0001c0001t0001g0090 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0252 a0001c0001t0001g0371	5	382	0.0131	20	c.164 others(35): Show c.164-138_164-137insTGTGTGTGTGTGAGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp1 HG03130.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0039 a0001c0001t0001g0064	2	382	0.0052	20	c.164 others(35): Show c.164-138_164-137insTGTGTGTGTGTGTGAGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45011797	T T	TGTGTGTG others(13): Show TGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	382	0.0026	20	c.164 others(35): Show c.164-138_164-137insTGTGTGTGTGTGTGTGAGAG	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELB_chr19_44996464_45043192	45023393	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	382	0.0026	20	c.662 others(37): Show c.662+1204_662+1223dupTTCCTTCCTTCCTTCCTTCC	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RELCH_chr18_62182255_62315249	62229485	G G	GGTGTGTG others(13): Show GGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0047 a0001c0004t0016g0047	1	340	0.0029	20	c.144 others(37): Show c.1448+904_1448+923dupGTGTGTGTGTGTGTGTGTGT	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
RELCH_chr18_62182255_62315249	62229518	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTCTGTCTGTC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0304 a0001c0005t0008g0304	1	340	0.0029	20	c.144 others(37): Show c.1448+923_1448+924insGTGTGTGTCTGTCTGTCTGT	RELCH	ENSG00000134444.15	transcript	ENST00000644646.2	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
RELL1_chr4_37605634_37691376	37653313	T T	TGTATTGA others(13): Show TGTATTGAAACCTCAATACAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02559.hp1 HG02572.hp2 others(2): Show HG00323.hp2 HG02559.hp1 HG02572.hp2 HG02809.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0063 a0001c0001t0004 a0001c0001t0012 a0001c0001t0063	a0001c0001t0004g0242 a0001c0001t0012g0135 a0001c0001t0012g0141 others(2): Show a0001c0001t0004g0242 a0001c0001t0012g0135 a0001c0001t0012g0141 a0001c0001t0012g0291 a0001c0001t0063g0289	5	324	0.0154	20	c.89- others(35): Show c.89-3833_89-3814dupTTGTATTGAGGTTTCAATAC	RELL1	ENSG00000181826.10	transcript	ENST00000454158.7	protein_coding	1/6			chr4	TogoVar
RELN_chr7_103466789_103994658	103494365	T T	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01175.hp2 HG02622.hp1 others(8): Show HG01106.hp1 HG01175.hp2 HG02622.hp1 HG02735.hp1 HG03453.hp1 HG03669.hp2 NA18979.hp2 NA19002.hp2 NA19030.hp2 NA19085.hp1 NA19085.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0019 a0026 a0033	a0001c0004 a0001c0005 a0001c0067 others(6): Show a0001c0004 a0001c0005 a0001c0067 a0002c0029 a0002c0030 a0007c0012 a0019c0056 a0026c0039 a0033c0077	a0001c0004t0003 a0001c0005t0001 a0001c0067t0017 others(7): Show a0001c0004t0003 a0001c0005t0001 a0001c0067t0017 a0002c0029t0002 a0002c0030t0001 a0007c0012t0001 a0007c0012t0002 a0019c0056t0001 a0026c0039t0001 a0033c0077t0001	a0001c0004t0003g0166 a0001c0005t0001g0144 a0001c0067t0017g0024 others(8): Show a0001c0004t0003g0166 a0001c0005t0001g0144 a0001c0067t0017g0024 a0002c0029t0002g0031 a0002c0030t0001g0046 a0007c0012t0001g0070 a0007c0012t0001g0096 a0007c0012t0002g0006 a0019c0056t0001g0036 a0026c0039t0001g0116 a0033c0077t0001g0155	11	184	0.0598	20	c.936 others(39): Show c.9369+1338_9369+1357dupCACACACACACACACACACA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	57/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103518505	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0133 a0002c0010t0001g0133	1	184	0.0054	20	c.786 others(37): Show c.7862+817_7862+818insAAAAAAAAAAAAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	49/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103548987	A A	ACCTACAA others(13): Show ACCTACAATCTAAAATCGTAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0110 a0001c0024t0001g0110	1	184	0.0054	20	c.630 others(39): Show c.6302+2079_6302+2080insATACGATTTTAGATTGTAGG	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	41/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103708464	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	184	0.0054	20	c.806 others(37): Show c.806-7459_806-7458insAAAAAAAAAAAAAAAAAAAA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	8/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103773436	T T	TCTCTCTC others(13): Show TCTCTCTCCCTCGCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0115 a0001c0007t0001g0115	1	184	0.0054	20	c.544 others(37): Show c.544+3120_544+3121insGGAGGGAGCGAGGGAGAGAG	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	4/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103777883	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA19062.hp1 NA19088.hp1 HG02717.hp1 NA19062.hp1 NA19088.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0001c0018 a0009c0026 a0001c0002 a0001c0018 a0009c0026	a0001c0002t0001 a0001c0018t0001 a0009c0026t0006 a0001c0002t0001 a0001c0018t0001 a0009c0026t0006	a0001c0002t0001g0086 a0001c0018t0001g0081 a0009c0026t0006g0040 a0001c0002t0001g0086 a0001c0018t0001g0081 a0009c0026t0006g0040	3	184	0.0163	20	c.474 others(37): Show c.474-1276_474-1257dupTGTGTGTGTGTGTGTGTGTG	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	3/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103816530	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1 HG02683.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0016 a0001 a0003 a0016	a0001c0001 a0003c0075 a0016c0060 a0001c0001 a0003c0075 a0016c0060	a0001c0001t0001 a0003c0075t0005 a0016c0060t0002 a0001c0001t0001 a0003c0075t0005 a0016c0060t0002	a0001c0001t0001g0130 a0003c0075t0005g0181 a0016c0060t0002g0029 a0001c0001t0001g0130 a0003c0075t0005g0181 a0016c0060t0002g0029	3	184	0.0163	20	c.473 others(39): Show c.473+16987_473+17006dupGTGTGTGTGTGTGTGTGTGT	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	3/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103826319	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18964.hp1 NA18986.hp1 NA18941.hp2 NA18964.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0023 a0001c0002 a0001c0007 a0001c0023	a0001c0002t0001 a0001c0007t0001 a0001c0023t0001 a0001c0002t0001 a0001c0007t0001 a0001c0023t0001	a0001c0002t0001g0136 a0001c0007t0001g0049 a0001c0023t0001g0103 a0001c0002t0001g0136 a0001c0007t0001g0049 a0001c0023t0001g0103	3	184	0.0163	20	c.473 others(37): Show c.473+7217_473+7218insACACACACACACACACACAC	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	3/64			chr7	TogoVar
RELN_chr7_103466789_103994658	103975515	G G	GTATTTAT others(13): Show GTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0166 a0001c0004t0003g0166	1	184	0.0054	20	c.226 others(39): Show c.226+13596_226+13615dupAATAAATAAATAAATAAATA	RELN	ENSG00000189056.15	transcript	ENST00000428762.6	protein_coding	1/64			chr7	TogoVar
RELT_chr11_73371399_73402474	73377269	A A	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02280.hp2 HG02451.hp1 others(12): Show HG01074.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03130.hp2 HG03225.hp1 NA18906.hp2 NA18985.hp2 NA19043.hp1 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0008c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007 a0001c0011t0001 a0008c0015t0002	a0001c0001t0001g0134 a0001c0001t0003g0129 a0001c0001t0003g0135 others(10): Show a0001c0001t0001g0134 a0001c0001t0003g0129 a0001c0001t0003g0135 a0001c0001t0004g0133 a0001c0001t0005g0038 a0001c0001t0011g0130 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0044 a0001c0002t0002g0132 a0001c0002t0007g0136 a0001c0011t0001g0131 a0008c0015t0002g0040	15	340	0.0441	20	c.-26 others(35): Show c.-26+775_-26+794dupGTGTGTGTGTGTGTGTGTGT	RELT	ENSG00000054967.13	transcript	ENST00000064780.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar

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