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
RDH10_chr8_73289602_73330281	73315132	T T	TCCCCACC others(22): Show TCCCCACCGGCCTCCTCTCTCTCTCTCCCC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18990.hp2 NA18997.hp1 others(1): Show NA18950.hp1 NA18990.hp2 NA18997.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0015 a0001c0001t0002g0015 a0001c0001t0001g0015 a0001c0001t0002g0015	4	232	0.0172	29	c.526 others(46): Show c.526-3938_526-3937insCCCCCCCACCGGCCTCCTCTCTCTCTCT C	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RDH10_chr8_73289602_73330281	73315132	T T	TCCCCACC others(22): Show TCCCCACCGGCCTCCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG02723.hp1 others(8): Show HG02486.hp1 HG02622.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG03041.hp1 HG03225.hp1 HG03486.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0001c0001t0026 a0001c0001t0030	a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0141 others(6): Show a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0141 a0001c0001t0004g0030 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0022g0030 a0001c0001t0026g0053 a0001c0001t0030g0188	11	239	0.0460	29	c.526 others(46): Show c.526-3852_526-3824dupTCTCCCCCCACCGGCCTCCTCTCTCTCT C	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RDH10_chr8_73289602_73330281	73315190	C C	CCCCCACC others(22): Show CCCCCACCGGCCTCCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG01123.hp1 others(25): Show HG00544.hp1 HG00597.hp2 HG01123.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01952.hp1 HG01981.hp1 HG02056.hp1 HG02071.hp1 HG02129.hp1 HG02132.hp2 HG02523.hp2 HG02615.hp1 HG02622.hp1 HG02809.hp2 HG03017.hp2 HG03195.hp1 HG03486.hp1 NA18944.hp2 NA18966.hp1 NA18975.hp2 NA18994.hp2 NA19004.hp1 NA19067.hp2 NA19080.hp2 NA19083.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 a0001c0001t0028	a0001c0001t0001g0016 a0001c0001t0001g0155 a0001c0001t0002g0016 others(12): Show a0001c0001t0001g0016 a0001c0001t0001g0155 a0001c0001t0002g0016 a0001c0001t0003g0150 a0001c0001t0005g0005 a0001c0001t0005g0017 a0001c0001t0005g0149 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0021g0148 a0001c0001t0028g0005	28	382	0.0733	29	c.526 others(46): Show c.526-3878_526-3877insTCCCCACCGGCCTCCTCTCTCTCTCTCT C	RDH10	ENSG00000121039.10	transcript	ENST00000240285.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RDX_chr11_110224441_110301614	110289981	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0289 a0001c0001t0013g0289	1	373	0.0027	29	c.-65 others(46): Show c.-65+6485_-65+6486insGTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13			chr11	TogoVar
RELB_chr19_44996464_45043192	45017449	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	103	0.0097	29	c.505 others(46): Show c.505-4590_505-4589insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RELB	ENSG00000104856.15	transcript	ENST00000221452.13	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
RER1_chr1_2386841_2410436	2401252	T T	TCCTCCTC others(22): Show TCCTCCTCCCTCCTCCACCCTCCCTCCTCC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	86	0.0116	29	c.365 others(44): Show c.365+317_365+318insCCTCCTCCCTCCTCCACCCTCCCTCCTCC	RER1	ENSG00000157916.20	transcript	ENST00000605895.6	protein_coding	5/6			chr1	TogoVar
RERE_chr1_8347404_8822640	8512014	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	34	0.0294	29	c.831 others(46): Show c.831-3368_831-3340dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	7/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG01884.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0032 a0001c0003t0004g0067 a0001c0001t0001g0032 a0001c0003t0004g0067	2	30	0.0667	29	c.523 others(46): Show c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8617343	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0014 a0001c0019t0014	a0001c0019t0014g0123 a0001c0019t0014g0123	1	100	0.0100	29	c.397 others(46): Show c.397-2658_397-2657insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	3/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0098 a0001c0007t0003g0098	1	40	0.0250	29	c.-14 others(50): Show c.-145+27858_-145+27859insATATATATTTTTTTTTTTTTTTTT TTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18973.hp2 HG02165.hp1 NA18973.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0003 a0002c0006t0003 a0001c0001t0003 a0002c0006t0003	a0001c0001t0003g0117 a0002c0006t0003g0089 a0001c0001t0003g0117 a0002c0006t0003g0089	2	41	0.0488	29	c.-14 others(50): Show c.-145+27858_-145+27859insATATATATATATTTTTTTTTTTTT TTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	40	0.0250	29	c.-14 others(50): Show c.-145+27858_-145+27859insATATATATATATATTTTTTTTTTT TTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8789301	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0113 a0001c0002t0005g0113	1	40	0.0250	29	c.-14 others(50): Show c.-145+27858_-145+27859insATATATATATATATATATTTTTTT TTTTT	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	1/22			chr1	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATAATAT others(22): Show AATAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0141 a0001c0001t0003g0141	1	292	0.0034	29	c.-28 others(40): Show c.-2894_-2893insATAATATATATATATATATATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
RETREG2_chr2_219173275_219190475	219184915	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0044 a0002c0001t0044	a0002c0001t0044g0002 a0002c0001t0044g0002	1	428	0.0023	29	c.22 others(40): Show c.2287_*2288insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding	9/9	2288	INFO_REALIGN_3_PRIME	chr2	TogoVar
REXO5_chr16_20801527_20854665	20820544	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	328	0.0030	29	c.476 others(46): Show c.476-1217_476-1216insATATATATATATATATATATATATATTT T	REXO5	ENSG00000005189.20	transcript	ENST00000261377.11	protein_coding	5/19		INFO_REALIGN_3_PRIME	chr16	TogoVar
RFC1_chr4_39282456_39371362	39329127	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04228.hp2 HG03927.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0002 a0001c0007t0002 a0001c0002t0002 a0001c0007t0002	a0001c0002t0002g0145 a0001c0007t0002g0083 a0001c0002t0002g0145 a0001c0007t0002g0083	2	19	0.1053	29	c.332 others(46): Show c.332-1372_332-1371insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	4/24			chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296088	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0378 a0001c0002t0004g0378	1	375	0.0027	29	c.207 others(44): Show c.207+455_207+483dupTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296172	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0047 a0001c0004t0002g0047	1	381	0.0026	29	c.207 others(44): Show c.207+536_207+537insCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar
RFTN2_chr2_197563224_197680587	197575794	A A	ATATATAT others(22): Show ATATATATTTTATATACATAATATATATTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00733.hp1 others(60): Show HG00323.hp2 HG00408.hp1 HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01106.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01358.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01943.hp2 HG02040.hp1 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02886.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG03579.hp2 HG04199.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp1 NA18951.hp1 NA18957.hp2 NA18962.hp2 NA18966.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19009.hp2 NA19030.hp1 NA19055.hp1 NA19056.hp2 NA19062.hp1 NA19068.hp2 NA19079.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp2 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0005c0005	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(8): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0023 a0001c0002t0003 a0001c0006t0006 a0005c0005t0006	a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0006 others(58): Show a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0044 a0001c0001t0003g0094 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0146 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0170 a0001c0001t0003g0191 a0001c0001t0003g0298 a0001c0001t0006g0024 a0001c0001t0006g0148 a0001c0001t0006g0150 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0006g0164 a0001c0001t0008g0057 a0001c0001t0008g0185 a0001c0001t0008g0186 a0001c0001t0008g0189 a0001c0001t0008g0190 a0001c0001t0010g0053 a0001c0001t0010g0054 a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0014g0010 a0001c0001t0014g0015 a0001c0001t0016g0140 a0001c0001t0016g0141 a0001c0001t0019g0187 a0001c0001t0023g0162 a0001c0002t0003g0199 a0001c0002t0003g0260 a0001c0006t0006g0169 a0005c0005t0006g0153	63	310	0.2032	29	c.123 others(48): Show c.1234-3543_1234-3515dupGAATATATATTATGTATATAAAATAT ATA	RFTN2	ENSG00000162944.11	transcript	ENST00000295049.9	protein_coding	8/8			chr2	TogoVar
RFX2_chr19_5988164_6115500	6024716	A A	AGTGAGGA others(22): Show AGTGAGGACGGGAGTGAGGACGGGATCACG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02135.hp2 HG00140.hp2 HG02135.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0188 a0002c0002t0001g0208 a0001c0001t0001g0188 a0002c0002t0001g0208	2	285	0.0070	29	c.597 others(46): Show c.597+1418_597+1446dupCGTGATCCCGTCCTCACTCCCGTCCTCA C	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	6/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6024818	G G	GAGGACGG others(22): Show GAGGACGGGATCACGGTGAGGACGGGAGTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG01934.hp2 others(32): Show HG01243.hp2 HG01891.hp1 HG01934.hp2 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG04184.hp1 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0003 a0004c0013 others(1): Show a0001c0001 a0001c0003 a0004c0013 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0003t0001 a0001c0003t0004 a0001c0003t0011 a0001c0003t0014 a0004c0013t0002 a0006c0009t0005	a0001c0001t0001g0009 a0001c0001t0001g0241 a0001c0001t0001g0242 others(32): Show a0001c0001t0001g0009 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0299 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0004g0246 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0008g0300 a0001c0001t0009g0244 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0264 a0001c0003t0004g0261 a0001c0003t0004g0263 a0001c0003t0004g0267 a0001c0003t0004g0268 a0001c0003t0011g0262 a0001c0003t0014g0260 a0004c0013t0002g0250 a0006c0009t0005g0305	35	306	0.1144	29	c.597 others(46): Show c.597+1344_597+1345insGACTCCCGTCCTCACCGTGATCCCGTCC T	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	6/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6024847	G G	GAGGACGG others(22): Show GAGGACGGGATCACGGTGAGGACGGGAGTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp2 HG02647.hp1 others(8): Show HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp2 NA18906.hp2 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0001c0004 a0004c0008 a0001c0003 a0001c0004 a0004c0008	a0001c0003t0004 a0001c0004t0001 a0004c0008t0002 a0001c0003t0004 a0001c0004t0001 a0004c0008t0002	a0001c0003t0004g0274 a0001c0004t0001g0011 a0001c0004t0001g0275 others(8): Show a0001c0003t0004g0274 a0001c0004t0001g0011 a0001c0004t0001g0275 a0001c0004t0001g0276 a0001c0004t0001g0277 a0001c0004t0001g0278 a0001c0004t0001g0279 a0001c0004t0001g0280 a0001c0004t0001g0281 a0001c0004t0001g0282 a0004c0008t0002g0283	11	259	0.0425	29	c.597 others(46): Show c.597+1315_597+1316insGACTCCCGTCCTCACCGTGATCCCGTCC T	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	6/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6024876	G G	GAGGACGG others(22): Show GAGGACGGGATCACGGTGAGGACGGGAGTC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02965.hp1 HG03098.hp2 others(2): Show HG02615.hp1 HG02965.hp1 HG03098.hp2 HG03471.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 others(2): Show a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0015g0286	5	247	0.0202	29	c.597 others(46): Show c.597+1258_597+1286dupGACTCCCGTCCTCACCGTGATCCCGTCC T	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	6/17			chr19	TogoVar
RFX3_chr9_3213297_3531001	3445254	T T	TTGAGAGA others(22): Show TTGAGAGAAGGGAGCATTTATAATGTTTAC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0123 a0001c0001t0065g0123	1	194	0.0052	29	c.-8- others(46): Show c.-8-49687_-8-49659dupGTAAACATTATAAATGCTCCCTTCTCTC A	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504922	A A	ATATATTA others(22): Show ATATATTATATATATATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0012 a0001c0001t0057g0012	1	194	0.0052	29	c.-9+ others(46): Show c.-9+20824_-9+20825insATATATATTATATATATATATATAATAT A	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX4_chr12_106578004_106767803	106725317	A A	AATTGTTA others(22): Show AATTGTTAATGGACGGCACATCAAAGAATT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0237	1	294	0.0034	29	c.135 others(48): Show c.1351+4442_1351+4470dupATTGTTAATGGACGGCACATCAAAGA ATT	RFX4	ENSG00000111783.13	transcript	ENST00000392842.6	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr12	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0227 a0001c0004t0227	a0001c0004t0227g0178 a0001c0004t0227g0178	1	280	0.0036	29	c.64 others(40): Show c.6428_*6429insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGN_chrX_47073443_47098313	47090961	A A	AAGGAAGG others(22): Show AAGGAAGGAAAGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	119	0.0084	29	c.563 others(44): Show c.563-716_563-715insGGAAGGAAAGAAAAAGAAAGAAAGAAAGA	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RGPD2_chr2_87750960_87830796	87825483	C C	CGCCGCCG others(22): Show CGCCGCCGCCCGGCCGAGGCCGAGGCCGAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA21309.hp2 NA18962.hp1 NA21309.hp2	a0006 a0016 a0006 a0016	a0006c0013 a0016c0020 a0006c0013 a0016c0020	a0006c0013t0001 a0016c0020t0001 a0006c0013t0001 a0016c0020t0001	a0006c0013t0001g0003 a0016c0020t0001g0088 a0006c0013t0001g0003 a0016c0020t0001g0088	2	150	0.0133	29	c.72+ others(42): Show c.72+146_72+174dupCTCGGCCTCGGCCTCGGCCGGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGPD5_chr2_109789305_109862705	109823546	C C	CCTTTTCT others(22): Show CCTTTTCTTTTCTTTTCTTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0018 a0002c0002t0018	a0002c0002t0018g0009 a0002c0002t0018g0009	1	10	0.1000	29	c.127 others(46): Show c.1277-652_1277-651insCTTTTCTTTTCTTTTCTTTTCTTTTCTT T	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGS12_chr4_3288021_3444913	3359188	C C	CCTCCCCC others(22): Show CCTCCCCCTCCTCTCCCCCTCCTCCCCCTT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0282 a0001c0003t0001g0282	1	97	0.0103	29	c.199 others(50): Show c.1998+16147_1998+16148insTCCCCCTCCTCCCCCTTCTCCCCC TCCTC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3359188	C C	CCTCCCCC others(22): Show CCTCCCCCTTCTCCCCCCTCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0277 a0001c0003t0001g0277	1	97	0.0103	29	c.199 others(50): Show c.1998+16143_1998+16144insTCTCCCCCCTCCTCCCCCCTTCTC CCCCT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS14_chr5_177352924_177377596	177371067	G G	GCGGGGCG others(22): Show GCGGGGCGGGGCCGGGGCCGGGGCCGGGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	387	0.0026	29	c.125 others(44): Show c.1254+37_1254+38insGGGGCGGGGCCGGGGCCGGGGCCGGGGCC	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS14_chr5_177352924_177377596	177371068	C C	CGGGGCGG others(22): Show CGGGGCGGGGCGGGGCGGGGCGGGGCGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0013 a0005c0011t0001g0013	1	395	0.0025	29	c.125 others(44): Show c.1254+37_1254+38insGGGGCGGGGCGGGGCGGGGCGGGGCGGGG	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14			chr5	TogoVar
RGS20_chr8_53846795_53964303	53948641	A A	ATATAAGA others(22): Show ATATAAGATACAGTACATATTTACATATGC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	146	0.0068	29	c.743 others(46): Show c.743+1897_743+1898insAGATACAGTACATATTTACATATGCTAT A	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS5_chr1_163137299_163207916	163180686	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	128	0.0078	29	c.45- others(46): Show c.45-12319_45-12318insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RGS5	ENSG00000143248.13	transcript	ENST00000313961.10	protein_coding	1/4			chr1	TogoVar
RGS7_chr1_240770514_241362205	240842199	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	11	0.0909	29	c.610 others(48): Show c.610-15028_610-15027insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	9/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241106752	C C	CCACCACA others(22): Show CCACCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	37	0.0270	29	c.79- others(44): Show c.79-7991_79-7990insTGTGTGTGTGTGTGTGTGTGTGTGTGGTG	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241259667	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0002 a0001c0001t0004g0002	1	23	0.0435	29	c.78+ others(46): Show c.78+96031_78+96032insATATATATATTTTTTTTTTTTTTTTTTT T	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHBDL2_chr1_38880807_38946830	38882346	A A	ATTTACAT others(22): Show ATTTACATATATATATTTTTATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	352	0.0028	29	c.41 others(40): Show c.4157_*4158insATATATATATAAAAATATATATATGTAAA	RHBDL2	ENSG00000158315.11	transcript	ENST00000372990.6	protein_coding		3460		chr1	TogoVar
RHD_chr1_25267509_25335445	25312920	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA20805.hp1 NA19082.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0158 a0001c0001t0002g0167 a0001c0001t0001g0158 a0001c0001t0002g0167	2	14	0.1429	29	c.107 others(48): Show c.1074-4073_1074-4045dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	RHD	ENSG00000187010.21	transcript	ENST00000328664.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHEBL1_chr12_49059676_49074979	49072126	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	204	0.0049	29	c.-23 others(40): Show c.-2342_-2341insATATATATATATATATATATATATTTTTT	RHEBL1	ENSG00000167550.11	transcript	ENST00000301068.11	protein_coding		2148		chr12	TogoVar
RHEBL1_chr12_49059676_49074979	49072126	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	204	0.0049	29	c.-23 others(40): Show c.-2342_-2341insATATATATATATATATATATATATATTTT	RHEBL1	ENSG00000167550.11	transcript	ENST00000301068.11	protein_coding		2148		chr12	TogoVar
RHOB_chr2_20442074_20454440	20442568	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00733.hp2 HG01243.hp1 others(8): Show HG00544.hp1 HG00733.hp2 HG01243.hp1 HG01496.hp1 HG02622.hp2 NA18939.hp2 NA18979.hp1 NA18986.hp1 NA19011.hp2 NA19067.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	11	73	0.1507	29	c.-48 others(40): Show c.-4898_-4897insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		4505		chr2	TogoVar
RHOC_chr1_112696131_112712127	112706476	A A	ACCACACA others(22): Show ACCACACACACACACACACACACCCCACAC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	419	0.0024	29	c.-77 others(44): Show c.-77+601_-77+602insGTGTGGGGTGTGTGTGTGTGTGTGTGTGG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RICTOR_chr5_38932920_39079399	38990665	A A	AGATATAT others(22): Show AGATATATATATCTGATATATATCATATCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	335	0.0030	29	c.583 others(44): Show c.583+283_583+284insAGATATGATATATATCAGATATATATATC	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar
RIDA_chr8_98097344_98122171	98099699	A A	ATAGTGAT others(22): Show ATAGTGATTTCAGATAGCAGTTATTTAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	456	0.0022	29	c.31 others(40): Show c.3142_*3143insCACTAAATAACTGCTATCTGAAATCACTA	RIDA	ENSG00000132541.11	transcript	ENST00000254878.8	protein_coding		2644		chr8	TogoVar
RIGI_chr9_32450302_32531196	32504716	T T	TATATAAA others(22): Show TATATAAAATATATAAAATATATTTAATAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02056.hp1 NA18970.hp2 others(8): Show HG02040.hp1 HG02056.hp1 NA18970.hp2 NA18974.hp2 NA18986.hp2 NA19000.hp1 NA19012.hp1 NA19043.hp2 NA19060.hp1 NA19066.hp1 NA19074.hp2	a0003 a0003	a0003c0008 a0003c0009 a0003c0008 a0003c0009	a0003c0008t0001 a0003c0008t0002 a0003c0008t0003 others(2): Show a0003c0008t0001 a0003c0008t0002 a0003c0008t0003 a0003c0008t0007 a0003c0009t0003	a0003c0008t0001g0231 a0003c0008t0002g0225 a0003c0008t0002g0228 others(8): Show a0003c0008t0001g0231 a0003c0008t0002g0225 a0003c0008t0002g0228 a0003c0008t0002g0239 a0003c0008t0002g0240 a0003c0008t0003g0227 a0003c0008t0003g0229 a0003c0008t0003g0232 a0003c0008t0003g0233 a0003c0008t0007g0236 a0003c0009t0003g0226	11	341	0.0323	29	c.107 others(46): Show c.107-3806_107-3778dupGTATTAAATATATTTTATATATTTTATA T	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RIGI_chr9_32450302_32531196	32508239	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03453.hp1 HG00323.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0020 a0002c0004 a0001c0020 a0002c0004	a0001c0020t0008 a0002c0004t0005 a0001c0020t0008 a0002c0004t0005	a0001c0020t0008g0253 a0002c0004t0005g0310 a0001c0020t0008g0253 a0002c0004t0005g0310	2	49	0.0408	29	c.107 others(46): Show c.107-7301_107-7300insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar

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