Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RBBP8NL_chr20_62405237_62432539	62422647	G G	GACGGGGC others(101): Show GACGGGGCCCGGGGTGGGGATGGGGACTGGGGTGGGGACGGGGCCCGGGG TGGGGACGGGGCCCGGGGTGGGGATGGCGACTGGGGTGGGGATGGCCACT GGGGTGGGA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02895.hp1 HG02572.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	2	432	0.0046	108	c.-83 others(125): Show c.-83-2918_-83-2917insTCCCACCCCAGTGGCCATCCCCACCCCA GTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCGTCCCCAC CCCAGTCCCCATCCCCACCCCGGGCCCCGT	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13			chr20	TogoVar
RBFOX1_chr16_6014024_7718340	7229888	G G	GAGGAAGG others(101): Show GAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGA GAGGGAGGAAGGGAGAGAGAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGA GAGAGAGGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	68	0.0147	108	c.27+ others(127): Show c.27+177861_27+177862insAAGGAAGGGAGAGAGAGGGAGGAAGG GAGAGAGAGGAAGGAAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGGGAGG AAGGGAGAGAGAGGGAGGAAGGGAGAGAGAGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7683010	G G	GTGTATAT others(101): Show GTGTATATATACACACACACACACATATATACGTATATATATGTGTGTGT GTATATATACACACACACATATATACGTATATATGTGTGTGTGTGTATAT ATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0018 a0001c0001t0013g0018	1	68	0.0147	108	c.995 others(125): Show c.995+6173_995+6174insGTATATATACACACACACACACATATAT ACGTATATATATGTGTGTGTGTATATATACACACACACATATATACGTAT ATATGTGTGTGTGTGTATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7683010	G G	GTGTATAT others(101): Show GTGTATATATACACACACACACATATATACGTATATATGTGTGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTATATATATAT ATATATATA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03831.hp2 HG02148.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0059 a0001c0001t0005g0058 a0001c0001t0001g0059 a0001c0001t0005g0058	2	68	0.0294	108	c.995 others(125): Show c.995+6173_995+6174insGTATATATACACACACACACATATATAC GTATATATGTGTGTGTGTGTATATATACACACACACATATATACGTATAT ATGTGTGTGTATATATATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(101): Show GTGTATATATACACACACACACACATATATACGTATATATATGTGTGTGT GTATATATACACACACACATATATACGTATATATGTGTGTGTGTGTATAT ATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG03704.hp1 others(1): Show HG00140.hp2 HG00642.hp1 HG03704.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0028 a0001c0001t0032 others(1): Show a0001c0001t0001 a0001c0001t0028 a0001c0001t0032 a0001c0002t0002	a0001c0001t0001g0042 a0001c0001t0028g0199 a0001c0001t0032g0183 others(1): Show a0001c0001t0001g0042 a0001c0001t0028g0199 a0001c0001t0032g0183 a0001c0002t0002g0087	4	234	0.0171	108	c.105 others(127): Show c.1058+6173_1058+6174insGTATATATACACACACACACACATAT ATACGTATATATATGTGTGTGTGTATATATACACACACACATATATACGT ATATATGTGTGTGTGTGTATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(101): Show GTGTATATATACACACACACACACATATATACGTATATATATGTGTGTGT GTATATATACACACACACATATATACGTATATGTGTGTGTGTGTGTGTAT ATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0008 a0001c0032t0008	a0001c0032t0008g0076 a0001c0032t0008g0076	1	234	0.0043	108	c.105 others(127): Show c.1058+6173_1058+6174insGTATATATACACACACACACACATAT ATACGTATATATATGTGTGTGTGTATATATACACACACACATATATACGT ATATGTGTGTGTGTGTGTGTATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(101): Show GTGTATATATACACACACACACATATATACGTATATATATGTGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTGTGTATATAT ATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0058 a0001c0003t0051g0058	1	234	0.0043	108	c.105 others(127): Show c.1058+6173_1058+6174insGTATATATACACACACACACATATAT ACGTATATATATGTGTGTGTGTATATATACACACACACATATATACGTAT ATATGTGTGTGTGTGTATATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(101): Show GTGTATATATACACACACACACATATATACGTATATATGTGTGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTATATATATAT ATATATATA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01943.hp1 HG01978.hp2 others(4): Show HG01169.hp1 HG01943.hp1 HG01978.hp2 HG02148.hp2 HG02602.hp2 HG02818.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0002 a0001c0003t0050 a0001c0009t0001	a0001c0001t0001g0079 a0001c0001t0001g0110 a0001c0001t0001g0111 others(4): Show a0001c0001t0001g0079 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0006g0114 a0001c0002t0002g0120 a0001c0003t0050g0009 a0001c0009t0001g0129	7	234	0.0299	108	c.105 others(127): Show c.1058+6173_1058+6174insGTATATATACACACACACACATATAT ACGTATATATGTGTGTGTGTGTATATATACACACACACATATATACGTAT ATATGTGTGTGTATATATATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RCHY1_chr4_75474033_75519403	75487732	A A	AATATATA others(101): Show AATATATATTCATATATATATTCATAATATATATATTCATATATATATTC ATAATATATATATTCATATATATATTCATAATATATATATTCATATATAT ATTCATAAT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	406	0.0025	108	c.657 others(125): Show c.657+2848_657+2849insATTATGAATATATATATGAATATATATA TTATGAATATATATATGAATATATATATTATGAATATATATATGAATATA TATATTATGAATATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
REEP1_chr2_86208993_86342626	86226111	C C	CCACCATC others(101): Show CCACCATCACCATCATCACCACCACCACCACCACCATCACCACCACCACC ACCACCATCACCATCATCACCACCACCACCACCACCACCACCACCACCAC CACCACCAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0284 a0001c0001t0006g0284	1	320	0.0031	108	c.631 others(125): Show c.631+1251_631+1252insATGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGATGATGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGATGATGGTGATGGTG	REEP1	ENSG00000068615.20	transcript	ENST00000538924.7	protein_coding	7/8			chr2	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(101): Show CCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	166	0.0060	108	c.908 others(125): Show c.908-2238_908-2237insCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(101): Show CCTTCCTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0132 a0001c0001t0006g0132	1	166	0.0060	108	c.908 others(125): Show c.908-2238_908-2237insCCTTTCTTTCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(101): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATGTG TATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	108	c.-23 others(119): Show c.-2310_-2309insGTATGTATACACATACATACATACGTATGCATAC ACATACATATGTATGCATACACATACATATGTATGCATACACATACATAT GTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759658	C C	CATACATA others(101): Show CATACATACGTATGTATGTGTATACATACGTACGTATGTATGTGTATACA TACATATGTATGTGTATACATACATACGTATGTATGTGTATACATACGTA TGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0014 a0003c0003t0001g0014	1	452	0.0022	108	c.-24 others(119): Show c.-2474_-2473insACACATACATACGTATGTATACACATACATACGT ATGTATGTATACACATACATATGTATGTATACACATACATACGTACGTAT GTATACACATACATACGTATGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2249		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759658	C C	CATACATA others(101): Show CATACATACGTATGTATGTGTATACATACGTATGTATGTGTATACATACA TACGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACGTA TGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03209.hp1 HG03516.hp2 HG01243.hp2 HG03209.hp1 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	3	452	0.0066	108	c.-24 others(119): Show c.-2474_-2473insACACATACATACGTATGTATGTATACACATACAT ACGTATGTATACACATACATACGTATGTATGTATACACATACATACGTAT GTATACACATACATACGTATGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2249		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759687	A A	ATATGTAT others(101): Show ATATGTATGTGTATACATACATACGTATGTATGTGTATACATACGTATGT ATGTGTATACATACATACGTATGTATGTGTATACATACGTATGTATGTGT ATACATACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02630.hp2 others(3): Show HG01884.hp2 HG02280.hp1 HG02630.hp2 HG02970.hp1 HG03225.hp1 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	6	452	0.0133	108	c.-25 others(119): Show c.-2503_-2502insCGTATGTATACACATACATACGTATGTATACACA TACATACGTATGTATGTATACACATACATACGTATGTATACACATACATA CGTATGTATGTATACACATACATA	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2278		chr3	TogoVar
RFLNA_chr12_124290093_124321024	124320020	G G	GGGTGGGA others(101): Show GGGTGGGATGACCTCTTTCTTTGGGGGCGGGTGGGATGACCTCTTTCTTT AGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGTAGGTGGGATGACATCT TTGGGGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02615.hp1 HG02723.hp2 others(2): Show HG02559.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp1 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0068 a0001c0003t0014g0071 a0001c0003t0014g0137 others(2): Show a0001c0003t0014g0068 a0001c0003t0014g0071 a0001c0003t0014g0137 a0001c0003t0014g0224 a0001c0003t0014g0245	5	388	0.0129	108	c.54 others(119): Show c.5495_*5496insGGTGGGATGACCTCTTTCTTTGGGGGCGGGTGGG ATGACCTCTTTCTTTAGGGGCAGGTGGGATGACCTCTTTCTTTGGGGGTA GGTGGGATGACATCTTTGGGGGCA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		3997		chr12	TogoVar
RFLNA_chr12_124290093_124321024	124320605	G G	GGATGACC others(101): Show GGATGACCTCTTTGGGGGTAGGTGAGATGACCTCTTTCTTTGGGGGTTGG TGGGATGACCTCTTTCTTTGGGGGTAAGTGGGATGACCTCTTTGTTTGCG GGTAGGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp1 others(58): Show HG00642.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01243.hp1 HG01255.hp1 HG01934.hp2 HG01975.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18960.hp1 NA18961.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18998.hp2 NA19007.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19066.hp1 NA19066.hp2 NA19082.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 others(11): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0024 a0001c0001t0028 a0001c0001t0032 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 a0001c0002t0019 a0001c0002t0022 a0001c0002t0027	a0001c0001t0006g0134 a0001c0001t0006g0144 a0001c0001t0006g0147 others(57): Show a0001c0001t0006g0134 a0001c0001t0006g0144 a0001c0001t0006g0147 a0001c0001t0006g0156 a0001c0001t0006g0157 a0001c0001t0006g0161 a0001c0001t0006g0171 a0001c0001t0006g0175 a0001c0001t0006g0177 a0001c0001t0006g0194 a0001c0001t0006g0198 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0012g0307 a0001c0001t0012g0361 a0001c0001t0013g0100 a0001c0001t0013g0120 a0001c0001t0013g0122 a0001c0001t0024g0209 a0001c0001t0028g0176 a0001c0001t0032g0230 a0001c0002t0002g0124 a0001c0002t0004g0244 a0001c0002t0004g0263 a0001c0002t0004g0291 a0001c0002t0004g0374 a0001c0002t0004g0376 a0001c0002t0004g0377 a0001c0002t0004g0378 a0001c0002t0004g0379 a0001c0002t0007g0003 a0001c0002t0007g0011 a0001c0002t0007g0024 a0001c0002t0007g0030 a0001c0002t0007g0077 a0001c0002t0007g0079 a0001c0002t0007g0083 a0001c0002t0007g0093 a0001c0002t0007g0094 a0001c0002t0007g0098 a0001c0002t0007g0370 a0001c0002t0007g0371 a0001c0002t0007g0372 a0001c0002t0007g0373 a0001c0002t0010g0143 a0001c0002t0010g0168 a0001c0002t0010g0169 a0001c0002t0010g0172 a0001c0002t0010g0180 a0001c0002t0010g0368 a0001c0002t0017g0255 a0001c0002t0017g0258 a0001c0002t0017g0259 a0001c0002t0019g0017 a0001c0002t0019g0220 a0001c0002t0019g0225 a0001c0002t0022g0052 a0001c0002t0022g0070 a0001c0002t0027g0271	61	388	0.1572	108	c.60 others(119): Show c.6080_*6081insGATGACCTCTTTGGGGGTAGGTGAGATGACCTCT TTCTTTGGGGGTTGGTGGGATGACCTCTTTCTTTGGGGGTAAGTGGGATG ACCTCTTTGTTTGCGGGTAGGTGA	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding		4582		chr12	TogoVar
RGS12_chr4_3288021_3444913	3309995	G G	GCTGAGGG others(101): Show GCTGAGGGGAACCGTGTGGGGGAGGAGCTGGGACCCGGGAAATGGCAGGT GTCCTCTGAGGGGAACCGTGTGGGGGAGGAGCTGGGACCCGGGAAATGGC AGGTGTCCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0052 a0001c0007t0001g0052	1	312	0.0032	108	c.-10 others(127): Show c.-101-6068_-101-5961dupGGAACCGTGTGGGGGAGGAGCTGGGA CCCGGGAAATGGCAGGTGTCCTCTGAGGGGAACCGTGTGGGGGAGGAGCT GGGACCCGGGAAATGGCAGGTGTCCTCTGAGG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGSL1_chr1_182445146_182565597	182533300	T T	TTTTTTTT others(101): Show TTTTTTTTTTTTTTTTTGTTCAACAATGTATCTTGGACATCATTTTATGT CAGTACACATATATCTGCCTTGTTTTTGACTGCCATAAAATGTCCATTAT ATGGATTAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00609.hp2 others(62): Show HG00280.hp1 HG00423.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01192.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02074.hp1 HG02135.hp1 HG02148.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp2 HG02615.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03017.hp2 HG03209.hp1 HG03486.hp2 HG03688.hp2 HG03831.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18994.hp2 NA19000.hp2 NA19010.hp2 NA19043.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp2 NA19087.hp1 NA19089.hp2 NA19091.hp1 NA21309.hp2	a0001 a0003 a0010 others(2): Show a0001 a0003 a0010 a0012 a0013	a0001c0001 a0003c0003 a0010c0025 others(2): Show a0001c0001 a0003c0003 a0010c0025 a0012c0015 a0013c0016	a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 others(3): Show a0001c0001t0001 a0003c0003t0001 a0003c0003t0002 a0010c0025t0001 a0012c0015t0001 a0013c0016t0002	a0001c0001t0001g0250 a0003c0003t0001g0016 a0003c0003t0001g0029 others(59): Show a0001c0001t0001g0250 a0003c0003t0001g0016 a0003c0003t0001g0029 a0003c0003t0001g0037 a0003c0003t0001g0039 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0062 a0003c0003t0001g0089 a0003c0003t0001g0115 a0003c0003t0001g0146 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0162 a0003c0003t0001g0227 a0003c0003t0001g0237 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0262 a0003c0003t0001g0292 a0003c0003t0002g0002 a0003c0003t0002g0005 a0003c0003t0002g0015 a0003c0003t0002g0018 a0003c0003t0002g0024 a0003c0003t0002g0025 a0003c0003t0002g0026 a0003c0003t0002g0027 a0003c0003t0002g0028 a0003c0003t0002g0053 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0091 a0003c0003t0002g0110 a0003c0003t0002g0132 a0003c0003t0002g0161 a0003c0003t0002g0179 a0003c0003t0002g0215 a0003c0003t0002g0236 a0003c0003t0002g0251 a0003c0003t0002g0255 a0003c0003t0002g0256 a0003c0003t0002g0264 a0003c0003t0002g0291 a0003c0003t0002g0310 a0003c0003t0002g0324 a0010c0025t0001g0226 a0012c0015t0001g0049 a0013c0016t0002g0007	65	338	0.1923	108	c.249 others(125): Show c.2494+522_2494+523insTTTGTTCAACAATGTATCTTGGACATCA TTTTATGTCAGTACACATATATCTGCCTTGTTTTTGACTGCCATAAAATG TCCATTATATGGATTAATTTTTTTTTTTTT	RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
RIMBP2_chr12_130391133_130721299	130646433	A A	ACCTCCCT others(101): Show ACCTCCCTCACCACCTCCCTCACCACCTGCCTCATCACCTCCCTCACCAC CTGCCTCGCCACCTCCCTCACCACCTCCCTCGCCACCTCCCTCACCACCT CCCTCACCG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0100 a0002c0009t0001g0100	1	180	0.0056	108	c.-35 others(129): Show c.-351-17978_-351-17977insCGGTGAGGGAGGTGGTGAGGGAGG TGGCGAGGGAGGTGGTGAGGGAGGTGGCGAGGCAGGTGGTGAGGGAGGTG ATGAGGCAGGTGGTGAGGGAGGTGGTGAGGGAGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RIMS4_chr20_44746808_44815546	44764047	T T	TATCCATC others(101): Show TATCCATCCATCCATCCATCCATCCACCCATCCATCCGTCCATCCATTTA TCCATCCATCCATCCATCCATTTATCCATCCATTTATCCATCCATCCATC CATCCATCC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01928.hp1 HG02300.hp2 others(4): Show HG01168.hp2 HG01928.hp1 HG02300.hp2 HG02735.hp2 HG02976.hp1 HG03017.hp1 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0037 a0001c0001t0086 a0001c0001t0087	a0001c0001t0002g0184 a0001c0001t0004g0060 a0001c0001t0006g0309 others(3): Show a0001c0001t0002g0184 a0001c0001t0004g0060 a0001c0001t0006g0309 a0001c0001t0037g0036 a0001c0001t0086g0320 a0001c0001t0087g0319	7	382	0.0183	108	c.237 others(125): Show c.237-5864_237-5863insGGATGGATGGATGGATGGATGGATAAAT GGATGGATAAATGGATGGATGGATGGATGGATAAATGGATGGACGGATGG ATGGGTGGATGGATGGATGGATGGATGGAT	RIMS4	ENSG00000101098.13	transcript	ENST00000372851.8	protein_coding	2/5			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50609980	A A	ACCACCCC others(101): Show ACCACCCCTGCCTCCCCTGCCACCCCTGCCTCACCTGCCACCCCTGCCTC ACCTGCCACCCCTGCCTCACCTGCCACCCCTGCCTCACCTGCCACCCCTG CCTCACCTG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19081.hp2 NA19010.hp2 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0071 a0002c0002t0001g0258 a0002c0002t0001g0071 a0002c0002t0001g0258	2	280	0.0071	108	c.427 others(123): Show c.427-259_427-258insCAGGTGAGGCAGGGGTGGCAGGTGAGGCAG GGGTGGCAGGTGAGGCAGGGGTGGCAGGTGAGGCAGGGGTGGCAGGTGAG GCAGGGGTGGCAGGGGAGGCAGGGGTGG	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	6/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666185	T T	TTCTTTTT others(101): Show TTCTTTTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTCTTCTCCTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0167 a0002c0002t0002g0167	1	280	0.0036	108	c.3+2 others(123): Show c.3+24940_3+24941insGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAGGAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAGAAAAAAGA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666190	T T	TTTTCTTT others(101): Show TTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTCTTCT CCTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	280	0.0036	108	c.3+2 others(123): Show c.3+24935_3+24936insGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAAGAGAGGAGAAGAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666190	T T	TTTTCTTT others(101): Show TTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT CTTCTCCTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp2 NA18947.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0148 a0001c0001t0002g0203 a0001c0001t0001g0148 a0001c0001t0002g0203	2	280	0.0071	108	c.3+2 others(123): Show c.3+24935_3+24936insGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAAGAGAGGAGAAGAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666190	T T	TTTTCTTT others(101): Show TTTTCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTCTTCTCCTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03492.hp1 NA18747.hp1 HG00741.hp2 HG03492.hp1 NA18747.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0130 a0001c0001t0001g0199 a0002c0002t0001g0214 a0001c0001t0001g0130 a0001c0001t0001g0199 a0002c0002t0001g0214	3	280	0.0107	108	c.3+2 others(123): Show c.3+24935_3+24936insGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GAAGAGAAGAGAAGAGAGGAGAAGAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF144A_chr2_6912412_7049179	7032345	G G	GGAATCCG others(101): Show GGAATCCGCGCCCCTTGCAGCTCTGCTGGAATCCGCGCCCCTTGCAGCTC TGCTGGAATCCGCGCCCCTTGCAGCTCTGCTGGAATCCGCGCCCCTTGCA GCTCTGCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01192.hp2 others(16): Show HG00140.hp2 HG00639.hp2 HG01192.hp2 HG01433.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG03239.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG04115.hp2 HG04228.hp1 NA18965.hp1 NA18974.hp2 NA19087.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 others(4): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0018 a0001c0002t0037	a0001c0002t0001g0234 a0001c0002t0006g0272 a0001c0002t0006g0274 others(16): Show a0001c0002t0001g0234 a0001c0002t0006g0272 a0001c0002t0006g0274 a0001c0002t0008g0073 a0001c0002t0008g0125 a0001c0002t0008g0156 a0001c0002t0008g0175 a0001c0002t0008g0179 a0001c0002t0008g0220 a0001c0002t0010g0007 a0001c0002t0010g0247 a0001c0002t0010g0250 a0001c0002t0010g0254 a0001c0002t0010g0261 a0001c0002t0010g0285 a0001c0002t0011g0137 a0001c0002t0011g0169 a0001c0002t0018g0296 a0001c0002t0037g0060	19	310	0.0613	108	c.747 others(125): Show c.747+2156_747+2157insGGAATCCGCGCCCCTTGCAGCTCTGCTG GAATCCGCGCCCCTTGCAGCTCTGCTGGAATCCGCGCCCCTTGCAGCTCT GCTCGAATCCGCGCCCCTTGCAGCTCTGCT	RNF144A	ENSG00000151692.15	transcript	ENST00000320892.11	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF150_chr4_140854807_141138469	141000015	A A	AAGAAGAA others(101): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGA GAAGAAGAAGGAGAAGAAGAAGGAGAAGAAGGAGAAGAAGGAGAAGAAGG AGAAGAAGG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	184	0.0054	108	c.485 others(127): Show c.485-32143_485-32142insCCTTCTTCTCCTTCTTCTCCTTCTTC TCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6			chr4	TogoVar
RNF213_chr17_80255852_80403794	80274697	G G	GGGGGGTG others(101): Show GGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGAGTGGGGGGGT GAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGTGTGGGG TGAGTGTGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0096 a0096	a0096c0107 a0096c0107	a0096c0107t0039 a0096c0107t0039	a0096c0107t0039g0081 a0096c0107t0039g0081	1	292	0.0034	108	c.261 others(125): Show c.261+1297_261+1298insGTGAGTGGGGTGAGTGTGGGGGGTGAGT GGGGTGAGTGGGGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGT CTGTGGGGGGTGTGGGGTGAGTGTGTGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314842	T T	TGGAGGTA others(101): Show TGGAGGTACTGGAGGTGACGGTGGTGGTGGTGGAGGTGACAGTGGTGATG CTGGTGGTGGAGGTGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGAGGT GATGGTGGA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	292	0.0034	108	c.281 others(127): Show c.2811+1677_2811+1678insAGGTACTGGAGGTGACGGTGGTGGTG GTGGAGGTGACAGTGGTGATGCTGGTGGTGGAGGTGGTGGAGGTACTGGA GGTGATGGTGGTGGTGGAGGTGATGGTGGAGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355360	A A	ACGGGAAT others(101): Show ACGGGAATGGGGGCTCACGGAGGAAGAAGCGGGGTGGACGGGAATCGGGG CTCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAG CGGGGTGAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0054 a0054	a0054c0137 a0054c0137	a0054c0137t0016 a0054c0137t0016	a0054c0137t0016g0015 a0054c0137t0016g0015	1	292	0.0034	108	c.108 others(127): Show c.10862+794_10862+795insGGCTCACGGAGGAAGAAGCGGGGTGG ACGGGAATCGGGGCTCACGGAGGAAGAGGGGTGACCGGGAATGGGGGCTC ACAGAGGAAGAAGCGGGGTGACCGGGAATGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355414	C C	CGGAGGAA others(101): Show CGGAGGAAGAGGGGTGACCGGGAATGGGGGCTCACAGAGGAAGAAGCGGG GTGACCGGGAATGGGGGCTTACAGGGGAAGAAGCGGGGTGAACGGGAATG GGGGCTTAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0018 a0018	a0018c0033 a0018c0033	a0018c0033t0016 a0018c0033t0016	a0018c0033t0016g0033 a0018c0033t0016g0033	1	292	0.0034	108	c.108 others(127): Show c.10862+847_10862+848insGGGGTGACCGGGAATGGGGGCTCACA GAGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTACAGGGGAAGAAGCGG GGTGAACGGGAATGGGGGCTTATGGAGGAAGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1077282	G G	GGCTATGG others(101): Show GGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGGGCTGAGGCTAT GGGGACTCCGTGGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAG GCTTGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	108	c.-32 others(119): Show c.-3277_-3276insGCCTCAAGCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCCCACGGAGTCCCCATAGCCTCAGCCCCATAGCCTCAGC CTCCCCCCACGGAGTCCCCATAGC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2977		chr1	TogoVar
RNFT2_chr12_116733315_116858631	116750881	T T	TTATATAT others(101): Show TTATATATATATAATATATATATTATATATATATAATATATATATTATAT ATATAATATATATATTATATATATAATATATATATTATATATATATAATA TATATATTA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0091 a0001c0004t0001g0091	1	268	0.0037	108	c.550 others(123): Show c.550+584_550+585insTAATATATATATTATATATATATAATATAT ATATTATATATATAATATATATATTATATATATAATATATATATTATATA TATATAATATATATATTATATATATATA	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
ROPN1L_chr5_10436879_10470026	10459310	C C	CGGGTTCC others(101): Show CGGGTTCCCGCCTTCCACCCTCATCACTGGGTTCCTGCCTTCCACCCTCA TCACTGGGTTCCTGCCTTCCACCCTCATCACTGGGTTCCTGCCTTCCACC CTCATCACT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19043.hp2 HG03540.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0240 a0002c0002t0002g0247 a0001c0001t0002g0240 a0002c0002t0002g0247	2	374	0.0054	108	c.418 others(125): Show c.418-1814_418-1813insCTGCCTTCCACCCTCATCACTGGGTTCC TGCCTTCCACCCTCATCACTGGGTTCCCGCCTTCCACCCTCATCACTGGG TTCCTGCCTTCCACCCTCATCACTGGGTTC	ROPN1L	ENSG00000145491.12	transcript	ENST00000274134.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RPH3AL_chr17_207389_357807	288705	T T	TCTCTCTC others(101): Show TCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCACCGTCAGACCTCAC TCCCTCTCTCTCCACCGTCAGACCTCACTCCCTCTCTCCCGGCCGTCAGA CCTCACTCC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0060 a0001c0002t0006g0060	1	133	0.0075	108	c.352 others(125): Show c.352-6852_352-6851insGGAGTGAGGTCTGACGGCCGGGAGAGAG GGAGTGAGGTCTGACGGTGGAGAGAGAGGGAGTGAGGTCTGACGGTGGAG AGAGGGAGTGAGGTCTGACGGTGGAGAGAG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	296067	G G	GCAGAGGG others(101): Show GCAGAGGGAATGCACATCAGTGTGGGAGGGACAGAGATGCTGCAGAAATG GATGGACAGAGGGAATGCACATCAGTGTGGGAGGGACACAGATGCTGCAG AAATGGAAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0022 a0001c0006t0004g0022	1	133	0.0075	108	c.352 others(127): Show c.352-14214_352-14213insTTTCCATTTCTGCAGCATCTGTGTCC CTCCCACACTGATGTGCATTCCCTCTGTCCATCCATTTCTGCAGCATCTC TGTCCCTCCCACACTGATGTGCATTCCCTCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPL5_chr1_92827040_92846924	92846850	T T	TATATATA others(101): Show TATATATACACACGTATATATATATATACACACGTATATATATATATATA TACACACGTATATATATATATACACACGTATATATATATATATACACGTA TATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	331	0.0030	108	c.49 others(119): Show c.4985_*4986insATATATACACACGTATATATATATATACACACGT ATATATATATATATATACACACGTATATATATATATACACACGTATATAT ATATATATACACGTATATATATAC	RPL5	ENSG00000122406.14	transcript	ENST00000370321.8	protein_coding		4927		chr1	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATTCTTTC others(101): Show ATTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0056 a0001c0001t0004g0056	1	366	0.0027	108	c.-15 others(119): Show c.-1536_-1535insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTTTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCT	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80743737	C C	CTACTAGC others(101): Show CTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACGAGCAC AGCCCTGGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0066 a0001c0066	a0001c0066t0058 a0001c0066t0058	a0001c0066t0058g0126 a0001c0066t0058g0126	1	196	0.0051	108	c.655 others(127): Show c.655-10246_655-10245insAGCCCTGGTTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACGAGCACAGCC CTGGTTACTAGCAGAGCCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743777	T T	TAGCACTG others(101): Show TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTCTCCTGG TTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0034 a0001c0054t0034	a0001c0054t0034g0056 a0001c0054t0034g0056	1	196	0.0051	108	c.655 others(127): Show c.655-10229_655-10228insCTGTCCTGGTTACTAGCACAGCCCTG GCTACTAGCACTCTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACAGC CCTGGCTACTAGCACTGTCCTGGTTACGAGCA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743803	C C	CCCTGGTT others(101): Show CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC GAGCACTGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0091 a0001c0045t0091	a0001c0045t0091g0036 a0001c0045t0091g0036	1	196	0.0051	108	c.655 others(127): Show c.655-10202_655-10201insTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACGAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743875	C C	CCCTGGCT others(101): Show CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTAC GAGCACTGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0003 a0001c0019t0003	a0001c0019t0003g0135 a0001c0019t0003g0135	1	196	0.0051	108	c.655 others(127): Show c.655-10120_655-10119insAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCC CTGGTTACGAGCACTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743875	C C	CCCTGGCT others(101): Show CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGTTAC GAGCACTGT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0129 a0001c0024t0003g0129	1	196	0.0051	108	c.655 others(127): Show c.655-10120_655-10119insAGCCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCC CTGGTTACGAGCACTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743965	C C	CCCTGGTT others(101): Show CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0034 a0001c0014t0034	a0001c0014t0034g0072 a0001c0014t0034g0072	1	196	0.0051	108	c.655 others(127): Show c.655-10040_655-10039insTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743993	G G	GAGCACAG others(101): Show GAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGG TTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCC CTGGCTACT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0029 a0001c0011t0029	a0001c0011t0029g0196 a0001c0011t0029g0196	1	196	0.0051	108	c.655 others(127): Show c.655-10004_655-10003insCTACTAGCAGAGCCCTGGCTACTAGC ACTCTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCAGAGCCCTGGCTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744072	G G	GTCCTGGT others(101): Show GTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAG CACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTA CTAGCACTA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0132 a0001c0022t0001g0132	1	196	0.0051	108	c.655 others(125): Show c.655-9928_655-9927insTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTGCTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTATCCTGGTTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744079	T T	TTACTAGC others(101): Show TTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCAC TGTCCTGGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	196	0.0051	108	c.655 others(125): Show c.655-9928_655-9927insTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGTTACGAGCACTGTCCTGGCTAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744083	G G	GAGCACAG others(101): Show GAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGG TTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCC CTGGCTACT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0081 a0001c0008t0081	a0001c0008t0081g0019 a0001c0008t0081g0019	1	196	0.0051	108	c.655 others(125): Show c.655-9914_655-9913insCTACTAGCAGAGCCCTGGCTACTAGCAC TCTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGCTACTA GCAGAGCCCTGGCTACTAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar

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