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
REST_chr4_56902900_56940844	56905326	A A	AAATAATA others(37): Show AAATAATATACATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	397	0.0025	44	c.-28 others(55): Show c.-2897_-2896insAATAATATACATATATATATATATATATATATAT ATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2573		chr4	TogoVar
REST_chr4_56902900_56940844	56905329	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0160	1	292	0.0034	44	c.-28 others(55): Show c.-2894_-2893insATATATATATATATATATATATATATATATATAT ATATATATAT	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2570		chr4	TogoVar
REST_chr4_56902900_56940844	56905347	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG00741.hp2 others(19): Show HG00621.hp1 HG00735.hp1 HG00741.hp2 HG01099.hp2 HG01175.hp2 HG01243.hp2 HG01943.hp1 HG02080.hp1 HG02897.hp1 HG03195.hp2 HG03225.hp1 HG03490.hp1 HG03710.hp2 HG04115.hp2 NA18939.hp1 NA18943.hp2 NA18964.hp1 NA18981.hp2 NA18998.hp2 NA19005.hp2 NA19043.hp1 NA19089.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0008c0013	a0001c0001t0002 a0001c0001t0004 a0001c0001t0039 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0039 a0002c0002t0001 a0002c0002t0007 a0003c0003t0002 a0008c0013t0001	a0001c0001t0002g0029 a0001c0001t0004g0076 a0001c0001t0004g0079 others(18): Show a0001c0001t0002g0029 a0001c0001t0004g0076 a0001c0001t0004g0079 a0001c0001t0004g0082 a0001c0001t0039g0017 a0002c0002t0001g0010 a0002c0002t0001g0024 a0002c0002t0001g0046 a0002c0002t0001g0209 a0002c0002t0001g0217 a0002c0002t0001g0253 a0002c0002t0007g0228 a0002c0002t0007g0265 a0002c0002t0007g0285 a0003c0003t0002g0001 a0003c0003t0002g0006 a0003c0003t0002g0015 a0003c0003t0002g0031 a0003c0003t0002g0033 a0003c0003t0002g0113 a0008c0013t0001g0227	22	167	0.1317	44	c.-28 others(55): Show c.-2876_-2875insATATATATATATATATATATATATATATATATAT ATATATATAA	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2552		chr4	TogoVar
REST_chr4_56902900_56940844	56905348	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 NA18972.hp1 NA18972.hp2 HG01884.hp1 NA18972.hp1 NA18972.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0002 a0004c0004t0005 a0004c0004t0009 a0003c0003t0002 a0004c0004t0005 a0004c0004t0009	a0003c0003t0002g0007 a0004c0004t0005g0041 a0004c0004t0009g0009 a0003c0003t0002g0007 a0004c0004t0005g0041 a0004c0004t0009g0009	3	376	0.0080	44	c.-28 others(55): Show c.-2875_-2874insTATATATATATATATATATATATATATATATATA TATATATATG	REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding		2551		chr4	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(37): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	44	c.-23 others(55): Show c.-2310_-2309insGTATGTATACACATACATATGTATGCATACACAT ACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTCTTT others(37): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG03710.hp1 NA19012.hp2 HG01943.hp1 HG03710.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0005g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0005g0028	3	215	0.0140	44	c.207 others(59): Show c.207+489_207+490insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTCTCTCTCTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320340	T T	TTAGGGGT others(37): Show TTAGGGGTAGGTGGGATGACCTCTTTGGGGGCAGGTGGGATGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01243.hp1 others(25): Show HG01070.hp1 HG01071.hp1 HG01243.hp1 HG02451.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02738.hp1 HG02886.hp2 HG02976.hp1 HG03225.hp1 HG03225.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03831.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18946.hp1 NA18954.hp1 NA18960.hp1 NA18970.hp1 NA18985.hp1 NA19043.hp2 NA19054.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 others(2): Show a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 a0001c0002t0019 a0001c0002t0022	a0001c0002t0007g0003 a0001c0002t0007g0012 a0001c0002t0007g0025 others(24): Show a0001c0002t0007g0003 a0001c0002t0007g0012 a0001c0002t0007g0025 a0001c0002t0007g0031 a0001c0002t0007g0078 a0001c0002t0007g0080 a0001c0002t0007g0083 a0001c0002t0007g0085 a0001c0002t0007g0087 a0001c0002t0007g0088 a0001c0002t0007g0099 a0001c0002t0007g0105 a0001c0002t0007g0106 a0001c0002t0007g0372 a0001c0002t0010g0136 a0001c0002t0010g0177 a0001c0002t0010g0180 a0001c0002t0010g0198 a0001c0002t0010g0370 a0001c0002t0017g0257 a0001c0002t0017g0260 a0001c0002t0017g0261 a0001c0002t0019g0018 a0001c0002t0019g0182 a0001c0002t0019g0186 a0001c0002t0022g0053 a0001c0002t0022g0071	28	383	0.0731	44	c.58 others(55): Show c.5815_*5816insTAGGGGTAGGTGGGATGACCTCTTTGGGGGCAGG TGGGATGACC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4317		chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320344	T T	TTAGGGGT others(37): Show TTAGGGGTAAGTGGGATGACCTCTTTAGGGGTAGGTGGGATGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01255.hp1 others(31): Show HG00642.hp1 HG01074.hp1 HG01255.hp1 HG01934.hp2 HG01975.hp1 HG01981.hp2 HG02273.hp2 HG02300.hp1 HG02602.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03834.hp2 HG04204.hp2 NA18947.hp2 NA18950.hp2 NA18961.hp1 NA18968.hp1 NA18969.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18986.hp1 NA18998.hp2 NA19007.hp2 NA19011.hp1 NA19057.hp1 NA19066.hp2 NA19082.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 others(7): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 a0001c0002t0027	a0001c0001t0006g0139 a0001c0001t0006g0141 a0001c0001t0006g0148 others(31): Show a0001c0001t0006g0139 a0001c0001t0006g0141 a0001c0001t0006g0148 a0001c0001t0006g0165 a0001c0001t0006g0170 a0001c0001t0006g0178 a0001c0001t0006g0205 a0001c0001t0006g0206 a0001c0001t0006g0211 a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0226 a0001c0001t0006g0231 a0001c0001t0006g0232 a0001c0001t0012g0303 a0001c0001t0012g0357 a0001c0001t0012g0363 a0001c0001t0013g0090 a0001c0001t0013g0124 a0001c0001t0013g0126 a0001c0001t0024g0239 a0001c0001t0028g0204 a0001c0001t0032g0189 a0001c0002t0002g0128 a0001c0002t0004g0154 a0001c0002t0004g0265 a0001c0002t0004g0293 a0001c0002t0004g0373 a0001c0002t0004g0375 a0001c0002t0004g0376 a0001c0002t0004g0377 a0001c0002t0004g0378 a0001c0002t0010g0207 a0001c0002t0027g0273	34	386	0.0881	44	c.58 others(55): Show c.5819_*5820insTAGGGGTAAGTGGGATGACCTCTTTAGGGGTAGG TGGGATGACC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4321		chr12	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(37): Show TATATATATATATATATATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0260 a0001c0002t0002g0260	1	187	0.0053	44	c.333 others(61): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTGTGTAT ATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFTN1_chr3_16310845_16518699	16415430	T T	TATATATA others(37): Show TATATATATATATATATATATATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0082 a0002c0003t0004g0082	1	187	0.0053	44	c.333 others(61): Show c.333-5948_333-5947insGTGTGTGTGTGTGTGTGTGTGTATATAT ATATATATATATATAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	3/9			chr3	TogoVar
RFX3_chr9_3213297_3531001	3270081	G G	GGAAAGAA others(37): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0049 a0001c0001t0008g0049	1	5	0.2000	44	c.135 others(61): Show c.1357+246_1357+289dupTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTC	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	11/16			chr9	TogoVar
RFX3_chr9_3213297_3531001	3504757	A A	ATATATAT others(37): Show ATATATATTATATGCTATATGGTATATATTGTATATAAAATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA19066.hp1 NA19068.hp2 others(1): Show HG02132.hp1 NA19066.hp1 NA19068.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0011 a0001c0002t0009 a0001c0001t0006 a0001c0001t0011 a0001c0002t0009	a0001c0001t0006g0027 a0001c0001t0006g0082 a0001c0001t0011g0080 others(1): Show a0001c0001t0006g0027 a0001c0001t0006g0082 a0001c0001t0011g0080 a0001c0002t0009g0030	4	121	0.0331	44	c.-9+ others(61): Show c.-9+20989_-9+20990insATATATTTTATATACAATATATACCATA TAGCATATAATATATA	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG02559.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0028 a0001c0001t0007g0023 a0001c0001t0007g0028	2	85	0.0235	44	c.401 others(61): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATATATATATATAT	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	ACTATATA others(37): Show ACTATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18968.hp2 NA19007.hp2 HG00140.hp2 NA18968.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0009 a0001c0002t0002 a0001c0002t0009	a0001c0002t0002g0073 a0001c0002t0009g0052 a0001c0002t0009g0133 a0001c0002t0002g0073 a0001c0002t0009g0052 a0001c0002t0009g0133	3	86	0.0349	44	c.401 others(61): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATATATATATATAG	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9			chr15	TogoVar
RGL3_chr19_11389060_11424314	11414503	A A	ATATATAC others(37): Show ATATATACACCTTCATATATATATATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02895.hp1 HG03209.hp1 others(2): Show HG02451.hp1 HG02895.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0180 a0001c0003t0001g0233 a0001c0003t0001g0234 others(2): Show a0001c0003t0001g0180 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0001g0299 a0001c0003t0001g0303	5	395	0.0127	44	c.637 others(61): Show c.637+1433_637+1434insGGTATATATATATATATATATATATATA TATGAAGGTGTATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414504	T T	TATATATA others(37): Show TATATATACACCTTCATATATATATATATATATATATACACCTTC	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18955.hp2 NA18973.hp1 HG02056.hp1 NA18955.hp2 NA18973.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0008 a0001c0003 a0003c0008	a0001c0003t0001 a0003c0008t0001 a0001c0003t0001 a0003c0008t0001	a0001c0003t0001g0247 a0003c0008t0001g0225 a0003c0008t0001g0295 a0001c0003t0001g0247 a0003c0008t0001g0225 a0003c0008t0001g0295	3	362	0.0083	44	c.637 others(61): Show c.637+1432_637+1433insGAAGGTGTATATATATATATATATATAT ATGAAGGTGTATATAT	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGL3_chr19_11389060_11424314	11414505	A A	ATATATAT others(37): Show ATATATATACACCTTCATATATATATATATATATATATATATACC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	382	0.0026	44	c.637 others(61): Show c.637+1431_637+1432insGGTATATATATATATATATATATATATA TGAAGGTGTATATATA	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGN_chrX_47073443_47098313	47089530	T T	TTATATAT others(37): Show TTATATATACATATTATATATACTTATATATACATATTATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0109 a0001c0001t0010g0109	1	109	0.0092	44	c.347 others(59): Show c.347-246_347-245insTATATATACATATTATATATACTTATATAT ACATATTATATATA	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	4/7			chrX	TogoVar
RGPD1_chr2_86937118_87018976	86942332	A A	ACGGCCTC others(37): Show ACGGCCTCGACCTGGCCGGGCGGCGGCCTCGACCTGGCCGGGCGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	37	0.0270	44	c.72+ others(55): Show c.72+56_72+99dupCCTGGCCGGGCGGCGGCCTCGACCTGGCCGGGCG GCGGCCTCGA	RGPD1	ENSG00000187627.18	transcript	ENST00000641458.2	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD1_chr2_86937118_87018976	86942332	A A	ACGGCCTC others(37): Show ACGGCCTCGACCTGGCGGGGCGGCGGCCTCGACCTGGCGGGGCGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02083.hp2 HG02300.hp2 others(2): Show HG01069.hp2 HG02083.hp2 HG02300.hp2 HG03927.hp2 NA19057.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0002 a0006c0005t0002 a0001c0001t0002 a0006c0005t0002	a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 others(2): Show a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0006c0005t0002g0102	5	41	0.1220	44	c.72+ others(55): Show c.72+39_72+40insGGGGCGGCGGCCTCGACCTGGCGGGGCGGCGGCC TCGACCTGGC	RGPD1	ENSG00000187627.18	transcript	ENST00000641458.2	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD2_chr2_87750960_87830796	87825537	C C	CCGAGGCC others(37): Show CCGAGGCCGCCGCCCGGCCAGGTCGAGGCCGCCGCCCGGCCAGGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02257.hp1 others(3): Show HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02486.hp1 NA18612.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0084 a0001c0001t0001g0143 a0001c0001t0001g0146 others(3): Show a0001c0001t0001g0084 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0156 a0002c0003t0001g0055 a0002c0003t0001g0154	6	99	0.0606	44	c.72+ others(56): Show c.72+77_72+120dupACCTGGCCGGGCGGCGGCCTCGACCTGGCCGGG CGGCGGCCTCG	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS16_chr1_182593623_182609389	182608332	T T	TCCCTAAT others(37): Show TCCCTAATTCCTCCTCCCTCCCCCCATCTGCAAGCAGAGTTGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	440	0.0023	44	c.-40 others(55): Show c.-4074_-4073insGGCCAACTCTGCTTGCAGATGGGGGGAGGGAGGA GGAATTAGGG	RGS16	ENSG00000143333.7	transcript	ENST00000367558.6	protein_coding		3944		chr1	TogoVar
RGS22_chr8_99955936_100111049	100060402	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	205	0.0049	44	c.151 others(63): Show c.1514+2188_1514+2189insTATATATATATATATATATATATATA TATATATATATATATATA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	9/27			chr8	TogoVar
RGS6_chr14_71927429_72571530	72053049	C C	CTCCCTTC others(37): Show CTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTCCCTCCCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0112 a0001c0001t0008g0112	1	109	0.0092	44	c.84+ others(61): Show c.84+88179_84+88180insTCCCTCCCTTCCCTCCCTTCCCTCCCTC CCTCCCTCCCTTCCCT	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7_chr1_240770514_241362205	240919467	A A	AAAAATCA others(37): Show AAAAATCATGCAATCATATCAATACATGCAGAGAAATCATTTGCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	112	0.0089	44	c.385 others(63): Show c.385+11206_385+11249dupGGCAAATGATTTCTCTGCATGTATTG ATATGATTGCATGATTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	6/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp1 NA19043.hp2 HG02258.hp2 HG02965.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0002g0099 a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0002g0099	3	18	0.1667	44	c.175 others(63): Show c.175+30427_175+30428insTATATATATATATATATATATATATA TACACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241068238	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0112 a0001c0001t0010g0112	1	16	0.0625	44	c.175 others(63): Show c.175+30427_175+30428insTATATATATATATATATATATACACA CACACACACACACACACA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	26	0.0385	44	c.175 others(61): Show c.175+9602_175+9603insTATATATATATATATATATATATATATA TATAGAGAGAGAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	26	0.0385	44	c.175 others(61): Show c.175+9602_175+9603insTATATATATATATATATATATATATATA TAGAGAGAGAGAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241089063	C C	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	26	0.0385	44	c.175 others(61): Show c.175+9602_175+9603insTATATATATATATATATATATATATAGA GAGAGAGAGAGAGAGA	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	3/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327028	A A	AAGGGAGG others(37): Show AAGGGAGGGAGGGAGTGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03540.hp2 HG02809.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0073 a0001c0001t0002g0074	2	97	0.0206	44	c.78+ others(61): Show c.78+28670_78+28671insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CACTCCCTCCCTCCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19043.hp2 HG02280.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0039 a0001c0001t0001g0040	2	19	0.1053	44	c.78+ others(61): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA18992.hp2 HG01515.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0071 a0001c0001t0001g0024 a0001c0001t0001g0071	2	19	0.1053	44	c.78+ others(61): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01515.hp1 HG02055.hp2 HG01071.hp1 HG01515.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0068 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0001g0068 a0001c0001t0005g0093 a0001c0001t0005g0094	3	20	0.1500	44	c.78+ others(61): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGAAGG others(37): Show AAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	18	0.0556	44	c.78+ others(61): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RGS7_chr1_240770514_241362205	241327036	A A	AAGGGAGG others(37): Show AAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02723.hp2 HG01433.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0001g0089 a0001c0001t0001g0111	2	19	0.1053	44	c.78+ others(61): Show c.78+28662_78+28663insCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHBDF2_chr17_76465896_76506423	76474936	C C	CCAGATTG others(37): Show CCAGATTGTTGCGGTGGGAGGGATTAGGTACCCACGACACTGAGG	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	362	0.0028	44	c.122 others(59): Show c.1227+50_1227+93dupCCTCAGTGTCGTGGGTACCTAATCCCTCCC ACCGCAACAATCTG	RHBDF2	ENSG00000129667.13	transcript	ENST00000675367.1	protein_coding	10/18			chr17	TogoVar
RHBDF2_chr17_76465896_76506423	76504664	T T	TTTTTTTT others(37): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	362	0.0028	44	c.-35 others(55): Show c.-3532_-3531insGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAAAAA	RHBDF2	ENSG00000129667.13	transcript	ENST00000675367.1	protein_coding		3242		chr17	TogoVar
RHOBTB2_chr8_22994548_23025199	23022751	T T	TGGGGGGG others(37): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0080	1	356	0.0028	44	c.52 others(55): Show c.5282_*5283insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGG	RHOBTB2	ENSG00000008853.18	transcript	ENST00000251822.7	protein_coding		2553		chr8	TogoVar
RHOC_chr1_112696131_112712127	112706476	A A	ACACACAC others(37): Show ACACACACACACACACACCACACACACACACACACACCCCCACAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	419	0.0024	44	c.-77 others(59): Show c.-77+601_-77+602insGTGTGGGGGTGTGTGTGTGTGTGTGTGGTG TGTGTGTGTGTGTG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHO_chr3_129523639_129540344	129538525	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18956.hp2 NA18973.hp2 NA18952.hp1 NA18956.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0004 a0001c0001t0006g0004	3	184	0.0163	44	c.48 others(55): Show c.4807_*4808insCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCC TTCCTTCCTT	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding		3182		chr3	TogoVar
RHPN2_chr19_32973592_33069888	32990137	T T	TAAAGAAA others(37): Show TAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0183 a0001c0014t0001g0183	1	15	0.0667	44	c.180 others(61): Show c.1800+376_1800+377insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	RHPN2	ENSG00000131941.8	transcript	ENST00000254260.8	protein_coding	14/14			chr19	TogoVar
RIBC1_chrX_53417873_53436115	53425515	T T	TAAAAAAA others(37): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	69	0.0145	44	c.1-7 others(55): Show c.1-736_1-735insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	RIBC1	ENSG00000158423.17	transcript	ENST00000375327.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RIC1_chr9_5624107_5781557	5673535	G G	GATATATA others(37): Show GATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	55	0.0182	44	c.253 others(63): Show c.253-16401_253-16400insTATATATATATATATATATATATATA TATATATATATATATATA	RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RIC3_chr11_8101056_8174025	8124105	G G	GAAAAAGA others(37): Show GAAAAAGAAAAAGAAAAAGCAAGCAAGCAAGCAAGCAAGCAAACA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01261.hp2 HG01346.hp2 others(5): Show HG01257.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 others(5): Show a0001c0001t0008g0023 a0001c0001t0008g0024 a0001c0001t0008g0025 a0001c0001t0008g0026 a0001c0001t0008g0027 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0030	8	367	0.0218	44	c.670 others(61): Show c.670+2553_670+2554insTGTTTGCTTGCTTGCTTGCTTGCTTGCT TTTTCTTTTTCTTTTT	RIC3	ENSG00000166405.16	transcript	ENST00000309737.11	protein_coding	5/5			chr11	TogoVar
RICTOR_chr5_38932920_39079399	39075284	T T	TACACACA others(37): Show TACACACACACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	31	0.0323	44	c.-90 others(53): Show c.-908_-907insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding		886		chr5	TogoVar
RIMBP2_chr12_130391133_130721299	130713215	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	171	0.0058	44	c.-35 others(63): Show c.-352+3006_-352+3007insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130713219	A A	AAGGAAGG others(37): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02165.hp2 HG02735.hp2 others(1): Show HG01109.hp1 HG02165.hp2 HG02735.hp2 NA19064.hp2	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0011 a0002c0016 others(1): Show a0001c0001 a0001c0011 a0002c0016 a0012c0052	a0001c0001t0002 a0001c0011t0001 a0002c0016t0001 others(1): Show a0001c0001t0002 a0001c0011t0001 a0002c0016t0001 a0012c0052t0001	a0001c0001t0002g0126 a0001c0011t0001g0125 a0002c0016t0001g0124 others(1): Show a0001c0001t0002g0126 a0001c0011t0001g0125 a0002c0016t0001g0124 a0012c0052t0001g0123	4	155	0.0258	44	c.-35 others(63): Show c.-352+3002_-352+3003insATCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMS1_chr6_71881550_72408145	72092291	C C	CCCTCCCT others(37): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0111 a0001c0003t0002g0111	1	60	0.0167	44	c.246 others(61): Show c.246-4655_246-4654insCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCT	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS2_chr8_103495610_104259430	103587409	G G	GAAGAAAG others(37): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	89	0.0112	44	c.177 others(63): Show c.177-64777_177-64734dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr8	TogoVar

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