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
ROCK2_chr2_11174759_11349636	11330740	G G	GGGAGGAG others(25): Show GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00597.hp1 HG00639.hp2 others(20): Show HG00323.hp1 HG00597.hp1 HG00639.hp2 HG01109.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01358.hp1 HG01496.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG03471.hp1 NA18522.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 others(9): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 a0001c0001t0033 a0001c0001t0049 a0001c0001t0050 a0001c0001t0054 a0001c0001t0066 a0002c0002t0028 a0002c0002t0077	a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 others(20): Show a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0141 a0001c0001t0004g0143 a0001c0001t0007g0139 a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0007g0147 a0001c0001t0007g0148 a0001c0001t0007g0276 a0001c0001t0008g0154 a0001c0001t0023g0155 a0001c0001t0024g0144 a0001c0001t0033g0006 a0001c0001t0049g0110 a0001c0001t0050g0111 a0001c0001t0054g0142 a0001c0001t0066g0140 a0002c0002t0028g0314 a0002c0002t0028g0316 a0002c0002t0077g0315	23	93	0.2473	32	c.141 others(51): Show c.141+13255_141+13256insTCCTCCCTCCTCCTCCTCCCTCCTCC TCCTCC	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROR1_chr1_63769017_64186498	63787476	T T	TCCTTCCT others(25): Show TCCTTCCTTCCTTCCTTCCTTCCTGCCTTCCTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0047 a0001c0002t0005g0047	1	65	0.0154	32	c.91+ others(49): Show c.91+12975_91+12976insTCCTTCCTTCCTTCCTGCCTTCCTGCCT TCCT	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64014773	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0016 a0002c0004t0003g0016	1	59	0.0169	32	c.163 others(49): Show c.163+5398_163+5399insTATATATATATATATATATATATATACA CACA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR1_chr1_63769017_64186498	64014773	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0012 a0001c0001t0017g0012	1	59	0.0169	32	c.163 others(49): Show c.163+5398_163+5399insTATATATATATATATATATATATATATA CACA	ROR1	ENSG00000185483.13	transcript	ENST00000371079.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROR2_chr9_91717601_91955228	91839275	T T	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTAAGTACAGGC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0112 a0002c0004t0003g0112	1	167	0.0060	32	c.98- others(49): Show c.98-63458_98-63457insGCCTGTACTTACACACACACACACACAC ACAC	ROR2	ENSG00000169071.15	transcript	ENST00000375708.4	protein_coding	1/8			chr9	TogoVar
RORA_chr15_60483284_61234302	60624513	G G	GTATATAT others(25): Show GTATATATATATATATAGTATATATATATTTGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0049 a0001c0001t0005g0049	1	83	0.0120	32	c.196 others(51): Show c.196+54143_196+54144insGCAAATATATATATACTATATATATA TATATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60671067	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03139.hp1 HG03195.hp2 others(1): Show HG00438.hp1 HG03139.hp1 HG03195.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0017 a0001c0001t0018 others(1): Show a0001c0001t0001 a0001c0001t0017 a0001c0001t0018 a0001c0003t0029	a0001c0001t0001g0046 a0001c0001t0017g0014 a0001c0001t0018g0089 others(1): Show a0001c0001t0001g0046 a0001c0001t0017g0014 a0001c0001t0018g0089 a0001c0003t0029g0070	4	38	0.1053	32	c.196 others(49): Show c.196+7589_196+7590insATATATATATATATATATATATATATAT ATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60816082	G G	GTATTTAT others(25): Show GTATTTATATACTGTAAACAGTATATGTATTTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0025 a0001c0005t0025	a0001c0005t0025g0100 a0001c0005t0025g0100	1	43	0.0233	32	c.167 others(53): Show c.167-137397_167-137396insTAAATACATATACTGTTTACAGTA TATAAATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61053848	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01099.hp2 HG02258.hp1 others(1): Show HG00639.hp2 HG01099.hp2 HG02258.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0008 a0001c0001t0009 a0001c0003t0014 others(1): Show a0001c0001t0008 a0001c0001t0009 a0001c0003t0014 a0001c0004t0008	a0001c0001t0008g0033 a0001c0001t0009g0043 a0001c0003t0014g0114 others(1): Show a0001c0001t0008g0033 a0001c0001t0009g0043 a0001c0003t0014g0114 a0001c0004t0008g0005	4	10	0.4000	32	c.166 others(53): Show c.166+175204_166+175205insATATATATATATATATATATATAT ATATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RPAIN_chr17_5415182_5437877	5416180	T T	TATATATA others(25): Show TATATATATATATATATACACACATACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	310	0.0032	32	c.-40 others(43): Show c.-4031_-4030insATATATATATATATATACACACATACACACAC	RPAIN	ENSG00000129197.15	transcript	ENST00000381209.8	protein_coding		4001		chr17	TogoVar
RPAP2_chr1_92294059_92407056	92305432	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG01106.hp1 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0134 a0001c0001t0004g0133 a0001c0001t0002g0134 a0001c0001t0004g0133	2	52	0.0385	32	c.399 others(49): Show c.399+1102_399+1103insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPE65_chr1_68423822_68454954	68452696	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	181	0.0055	32	c.-27 others(43): Show c.-2792_-2791insACACACACACACACACACACACACACACACAC	RPE65	ENSG00000116745.7	transcript	ENST00000262340.6	protein_coding		2743		chr1	TogoVar
RPF2_chr6_110977038_111033263	110994734	T T	TATATATA others(25): Show TATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	213	0.0047	32	c.235 others(49): Show c.235-2448_235-2447insTATATATATATATATATATATACACACA CACA	RPF2	ENSG00000197498.13	transcript	ENST00000441448.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
RPGRIP1L_chr16_53593153_53708859	53617073	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0173 a0002c0002t0001g0173	1	82	0.0122	32	c.361 others(51): Show c.3616+1951_3616+1952insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	RPGRIP1L	ENSG00000103494.16	transcript	ENST00000647211.2	protein_coding	24/26			chr16	TogoVar
RPGRIP1_chr14_21275083_21356301	21275949	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	10	0.1000	32	c.-42 others(43): Show c.-4249_-4248insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding		4133		chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21304416	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	329	0.0030	32	c.800 others(47): Show c.800+903_800+904insGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21304420	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	287	0.0035	32	c.800 others(47): Show c.800+903_800+904insGAAAGGAAGAAAGAAAGAAAGAAAGAAAGA AA	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
RPGRIP1_chr14_21275083_21356301	21354605	T T	TCTGTGAT others(25): Show TCTGTGATTCTTTCTGTCTTGTTTTGCTTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0231 a0004c0010t0001g0231	1	330	0.0030	32	c.33 others(43): Show c.3389_*3390insCTGTGATTCTTTCTGTCTTGTTTTGCTTTCTG	RPGRIP1	ENSG00000092200.13	transcript	ENST00000400017.7	protein_coding		3305		chr14	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGACA others(25): Show AGGGGACAGGGCGGGAGGGGGACAGGGCGAGAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	1	20	0.0500	32	c.351 others(51): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	324702	G G	GCTATCTA others(25): Show GCTATCTATCTATCTATCTATCTATCTATCTAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	116	0.0086	32	c.77+ others(47): Show c.77+2764_77+2765insATAGATAGATAGATAGATAGATAGATAGAT AG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	3/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01952.hp2 HG02040.hp1 HG02056.hp1 others(9): Show HG01952.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02148.hp2 HG02630.hp2 HG02683.hp1 HG03130.hp1 HG03486.hp1 HG03540.hp2 NA18954.hp2 NA18960.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0005	a0001c0001t0035 a0001c0001t0135 a0001c0001t0136 others(7): Show a0001c0001t0035 a0001c0001t0135 a0001c0001t0136 a0001c0001t0140 a0001c0001t0142 a0001c0002t0034 a0001c0002t0138 a0001c0002t0139 a0001c0003t0141 a0003c0005t0137	a0001c0001t0035g0011 a0001c0001t0035g0110 a0001c0001t0135g0028 others(9): Show a0001c0001t0035g0011 a0001c0001t0035g0110 a0001c0001t0135g0028 a0001c0001t0136g0147 a0001c0001t0140g0044 a0001c0001t0142g0180 a0001c0002t0034g0125 a0001c0002t0034g0143 a0001c0002t0138g0195 a0001c0002t0139g0089 a0001c0003t0141g0084 a0003c0005t0137g0165	12	18	0.6667	32	c.-27 others(41): Show c.-278_-247dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36413	INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112877403	T T	TACACACA others(25): Show TACACACACACACGTATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0051 a0002c0004t0051	a0002c0004t0051g0035 a0002c0004t0051g0035	1	259	0.0039	32	c.117 others(49): Show c.1171+550_1171+581dupGTATACACACACACACACACACACACAC ACAC	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112877423	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACGTAT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0124 a0002c0004t0124	a0002c0004t0124g0119 a0002c0004t0124g0119	1	264	0.0038	32	c.117 others(49): Show c.1171+585_1171+586insGTATACACACACACACACACACACACAC ACAC	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPH3A_chr12_112786748_112903881	112877425	C C	CACACACA others(25): Show CACACACACACACACACACACACACACACGTAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0069 a0002c0004t0069	a0002c0004t0069g0162 a0002c0004t0069g0162	1	264	0.0038	32	c.117 others(49): Show c.1171+587_1171+588insGTATACACACACACACACACACACACAC ACAC	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0002 a0002c0002t0008g0002	1	155	0.0065	32	c.-17 others(43): Show c.-1706_-1705insTATATATATATATATATATATATATATTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19010.hp2 NA19005.hp1 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	156	0.0128	32	c.-17 others(43): Show c.-1706_-1705insTATATATATATATATATATATATATTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	155	0.0065	32	c.-17 others(43): Show c.-1706_-1705insTATATATATATATATATATTTTTTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(25): Show ATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	155	0.0065	32	c.-17 others(43): Show c.-1706_-1705insTATATATATATATATTTTTTTTTTTTTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL13_chr16_89555682_89569542	89565621	G G	GGCCGTGC others(25): Show GGCCGTGCCCGAGTGTGGGCCGTGCCCGAGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG01081.hp2 others(40): Show HG00323.hp2 HG00621.hp1 HG01081.hp2 HG01255.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02559.hp2 HG02572.hp1 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03139.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18940.hp2 NA18942.hp2 NA18960.hp1 NA18960.hp2 NA18972.hp1 NA18983.hp2 NA18984.hp2 NA18991.hp2 NA19004.hp1 NA19030.hp1 NA19063.hp2 NA19078.hp2 NA19085.hp2 NA19088.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(11): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0017 a0001c0002t0020 a0001c0002t0022 a0001c0004t0003 a0001c0004t0009 a0001c0004t0014 a0001c0004t0015 a0001c0004t0018 a0001c0004t0019	a0001c0001t0001g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 others(15): Show a0001c0001t0001g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0012 a0001c0002t0003g0002 a0001c0002t0003g0014 a0001c0002t0004g0001 a0001c0002t0008g0001 a0001c0002t0017g0002 a0001c0002t0020g0014 a0001c0002t0022g0002 a0001c0004t0003g0005 a0001c0004t0003g0025 a0001c0004t0009g0001 a0001c0004t0014g0016 a0001c0004t0015g0015 a0001c0004t0018g0005 a0001c0004t0019g0002	43	383	0.1123	32	c.25 others(43): Show c.2579_*2580insGCCGTGCCCGAGTGTGGGCCGTGCCCGAGTGT	RPL13	ENSG00000167526.14	transcript	ENST00000311528.10	protein_coding		1080		chr16	TogoVar
RPL23_chr17_38842860_38858721	38842871	G G	GTCTGTCT others(25): Show GTCTGTCTGTCTGTCTGTCTATCTATCTATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	255	0.0078	32	c.72 others(43): Show c.7260_*7261insTAGATAGATAGATAGACAGACAGACAGACAGA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		4988		chr17	TogoVar
RPL23_chr17_38842860_38858721	38845112	G G	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	55	0.0182	32	c.50 others(43): Show c.5019_*5020insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RPL23	ENSG00000125691.14	transcript	ENST00000479035.7	protein_coding		2747		chr17	TogoVar
RPL26_chr17_8372516_8388193	8374937	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 NA18957.hp2 HG01358.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	63	0.0317	32	c.26 others(43): Show c.2626_*2627insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		2578		chr17	TogoVar
RPL26_chr17_8372516_8388193	8384050	C C	CGTGTGTG others(25): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	16	0.0625	32	c.-90 others(41): Show c.-900_-899insACACACACACACACACACACACACACACACAC	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		858		chr17	TogoVar
RPL26_chr17_8372516_8388193	8384083	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	420	0.0024	32	c.-93 others(41): Show c.-933_-932insTACACACACACACACACACACACACACACACA	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		891		chr17	TogoVar
RPL26_chr17_8372516_8388193	8386816	G G	GACATAGC others(25): Show GACATAGCAAAGCAGGGATTATAGCTAGATTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	420	0.0024	32	c.-36 others(43): Show c.-3666_-3665insGGAATCTAGCTATAATCCCTGCTTTGCTATGT	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		3624		chr17	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 NA18955.hp1 others(2): Show HG00423.hp1 HG00423.hp2 NA18955.hp1 NA19007.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	154	0.0325	32	c.44 others(43): Show c.4408_*4409insTATATATATATATATATATATATATATATATA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar
RPL30_chr8_98036721_98050545	98037392	G G	GTATATGT others(25): Show GTATATGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	150	0.0067	32	c.44 others(43): Show c.4408_*4409insTATATATATATATATATATATATATACATATA	RPL30	ENSG00000156482.11	transcript	ENST00000287038.8	protein_coding		4328		chr8	TogoVar
RPL5_chr1_92827040_92846924	92846835	A A	ACACACAC others(25): Show ACACACACACGTATATATATATATACACACACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	326	0.0031	32	c.49 others(43): Show c.4970_*4971insCACACACACGTATATATATATATACACACACG	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4912		chr1	TogoVar
RPRD1A_chr18_35984824_36072559	36008568	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0301 a0001c0002t0013g0301	1	308	0.0032	32	c.790 others(51): Show c.790-15269_790-15268insATATATATATATATATATATATATAT ATATAT	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008575	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0090 a0001c0001t0003g0091	2	209	0.0096	32	c.790 others(51): Show c.790-15276_790-15275insTATATATATATATATATATATATATA TATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	8	0.1250	32	c.790 others(51): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATATA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0009 a0001c0001t0021g0009	1	8	0.1250	32	c.790 others(51): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TATACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0188 a0001c0001t0010g0188	1	8	0.1250	32	c.790 others(51): Show c.790-15278_790-15277insTATATATATATATATATATATATATA TACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(25): Show GTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19090.hp1 NA18952.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0197 a0001c0001t0001g0161 a0001c0001t0001g0197	2	9	0.2222	32	c.790 others(51): Show c.790-15278_790-15277insTATATATATATATATATATATATATA CACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPRD1A_chr18_35984824_36072559	36008577	G G	GTGTGTGT others(25): Show GTGTGTGTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG02145.hp2 others(1): Show HG00140.hp2 HG00642.hp1 HG02145.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0146 others(1): Show a0001c0001t0001g0132 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147	4	11	0.3636	32	c.790 others(51): Show c.790-15278_790-15277insTATATATATATATATATATATATACA CACACA	RPRD1A	ENSG00000141425.18	transcript	ENST00000399022.9	protein_coding	6/6			chr18	TogoVar
RPS10_chr6_34412454_34431069	34427078	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	4	0.2500	32	c.-10 others(43): Show c.-1048_-1047insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	RPS10	ENSG00000124614.17	transcript	ENST00000648437.1	protein_coding		1010		chr6	TogoVar
RPS13_chr11_17069388_17082667	17078906	A A	AGCCGGGA others(25): Show AGCCGGGAAGGACATTGCGGTGAGCCGAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	406	0.0025	32	c.-12 others(43): Show c.-1297_-1266dupCTATCTCGGCTCACCGCAATGTCCTTCCCGGC	RPS13	ENSG00000110700.7	transcript	ENST00000525634.6	protein_coding		1240		chr11	TogoVar
RPS6KA6_chrX_84053350_84193199	84140758	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA19075.hp1 HG02293.hp2 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0021 a0002c0002t0006 a0002c0002t0021	a0002c0002t0006g0032 a0002c0002t0021g0019 a0002c0002t0006g0032 a0002c0002t0021g0019	2	209	0.0096	32	c.501 others(49): Show c.501+4719_501+4720insATATATATATATATATATATATATATAT ATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	6/21			chrX	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02071.hp2 NA19062.hp2 HG01175.hp1 HG02071.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0057 a0001c0001t0001g0091 a0001c0001t0001g0035 a0001c0001t0001g0057 a0001c0001t0001g0091	3	99	0.0303	32	c.472 others(47): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPS6KC1_chr1_213046241_213279774	213118993	C C	CAATGTGA others(25): Show CAATGTGATTCTAATAGAACCAGTTTCCTCGGA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	328	0.0030	32	c.472 others(49): Show c.472+1585_472+1616dupATGTGATTCTAATAGAACCAGTTTCCTC GGAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar

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