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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RBPJL_chr20_45301840_45322824	45305805	C C	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02572.hp1 HG03453.hp1 others(2): Show HG02109.hp1 HG02572.hp1 HG03453.hp1 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0040 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0001g0044	5	446	0.0112	37	c.-11 others(48): Show c.-1118_-1117insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		RBPJL	ENSG00000124232.11	transcript	ENST00000343694.8	protein_coding					1034		chr20	TogoVar
RC3H1_chr1_173926084_174027357	173950420	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0224 a0001c0001t0083g0224	1	310	0.0032	37	c.252 others(56): Show c.2523+1565_2523+1566insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		RC3H1	ENSG00000135870.12	transcript	ENST00000367696.7	protein_coding	14/19						chr1	TogoVar
RCBTB2_chr13_48483963_48538080	48527354	T T	TATATATA others(30): Show TATATATATATGATATATATATATCATATATATATATG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02129.hp2 HG02155.hp1 others(17): Show HG00323.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp2 NA18944.hp1 NA18945.hp2 NA18956.hp2 NA18967.hp1 NA18971.hp2 NA18975.hp2 NA18979.hp2 NA18985.hp2 NA18987.hp2 NA19010.hp2 NA19012.hp1 NA19060.hp2 NA19070.hp2 NA19079.hp1 NA19083.hp2 NA19087.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0001 a0004c0009t0001 a0001c0002t0001 a0004c0009t0001	a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 others(17): Show a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0004c0009t0001g0254	20	320	0.0625	37	c.-21 others(56): Show c.-218-2598_-218-2597insCATATATATATATGATATATATATAT CATATATATAT		RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14						chr13	TogoVar
RCC2_chr1_17401760_17444677	17431359	A A	ATAAAAAT others(30): Show ATAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18952.hp1 NA18978.hp2 others(1): Show NA18949.hp2 NA18952.hp1 NA18978.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0221 a0001c0001t0003g0231 a0001c0001t0003g0232 others(1): Show a0001c0001t0003g0221 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0004g0276	4	390	0.0103	37	c.286 others(54): Show c.286-2161_286-2160insATATATATATATATATATATATATATAT ATATTTTTA		RCC2	ENSG00000179051.14	transcript	ENST00000375436.9	protein_coding	2/12						chr1	TogoVar
RCCD1_chr15_90949884_90968125	90967410	C C	CTGGGGGG others(30): Show CTGGGGGGGGCGGGGGACGGGAGGGGGGGGGGCGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	432	0.0023	37	c.56 others(48): Show c.5641_*5642insTGGGGGGGGCGGGGGACGGGAGGGGGGGGGGCGG GGG		RCCD1	ENSG00000166965.13	transcript	ENST00000394258.7	protein_coding					4286		chr15	TogoVar
RCHY1_chr4_75474033_75519403	75478137	A A	ATGCCCCC others(30): Show ATGCCCCCACCCCCCCCCCCCCCCCCTCTACTTTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	406	0.0025	37	c.44 others(48): Show c.4400_*4401insACACAAAGTAGAGGGGGGGGGGGGGGGGGTGGGG GCA		RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding					895		chr4	TogoVar
RDH13_chr19_55039316_55068148	55043684	G G	GGATTATT others(30): Show GGATTATTGAGCTATCCTGCCTCAGTTATCTATGTGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	377	0.0027	37	c.13 others(48): Show c.1389_*1390insACCACATAGATAACTGAGGCAGGATAGCTCAATA ATC		RDH13	ENSG00000160439.16	transcript	ENST00000415061.8	protein_coding					631		chr19	TogoVar
RDX_chr11_110224441_110301614	110289956	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0282 a0001c0001t0009g0282	1	376	0.0027	37	c.-65 others(54): Show c.-65+6510_-65+6511insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		RDX	ENSG00000137710.17	transcript	ENST00000645495.2	protein_coding	1/13						chr11	TogoVar
RERE_chr1_8347404_8822640	8559280	C C	CAAAAAAA others(30): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0005 a0001c0018t0001g0005	1	204	0.0049	37	c.523 others(54): Show c.523-1758_523-1757insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	4/22						chr1	TogoVar
REST_chr4_56902900_56940844	56905326	A A	ATAATAAT others(30): Show ATAATAATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0286 a0002c0002t0001g0286	1	408	0.0025	37	c.-28 others(48): Show c.-2897_-2896insTAATAATATATATATATATATATATATATATATA TAT		REST	ENSG00000084093.19	transcript	ENST00000309042.12	protein_coding					2573		chr4	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(30): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	276	0.0036	37	c.132 others(54): Show c.132+2923_132+2924insCTTTTCTTTTTTCTTTTCTTTTCTTTTC TTTTCTTTT		RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24						chr4	TogoVar
RFLNA_chr12_124290093_124321024	124296151	C C	CTCTCTTT others(30): Show CTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0201 a0001c0001t0006g0201	1	388	0.0026	37	c.207 others(52): Show c.207+516_207+517insCTCTTTCTCTTTCTTTCTTTCTTTCTTTCT TTCTTTT		RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296157	T T	TCTTTCTT others(30): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	388	0.0026	37	c.207 others(52): Show c.207+521_207+522insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTC		RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2						chr12	TogoVar
RFX7_chr15_56082280_56248879	56141656	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0031 a0001c0005t0006g0031	1	360	0.0028	37	c.401 others(54): Show c.401+1121_401+1122insATATATATATATATATATATATATATAT ATATATATA		RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	5/9						chr15	TogoVar
RGN_chrX_47073443_47098313	47090957	A A	AAAGAAAG others(30): Show AAAGAAAGAAGGAAGGAAAGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	304	0.0033	37	c.563 others(52): Show c.563-712_563-711insGGAAGGAAAGAAAAAGAAAGAAAGAAAGAA GAAAGAA		RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	5/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
RGN_chrX_47073443_47098313	47090961	A A	AAAGAAAG others(30): Show AAAGAAAGAAGGAAGGAAAGAAAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	304	0.0033	37	c.563 others(52): Show c.563-708_563-707insGGAAGGAAAGAAAAAGAAAGAAAGAAAGAA GAAAGAA		RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	5/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
RGN_chrX_47073443_47098313	47090961	A A	AAAGAAGG others(30): Show AAAGAAGGAAGGAAAGAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG01106.hp1 others(35): Show HG00140.hp1 HG00639.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02809.hp1 HG02896.hp2 HG02976.hp1 HG03195.hp2 HG03239.hp2 HG03516.hp1 HG03540.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA18943.hp1 NA18963.hp2 NA19011.hp2 NA19074.hp1 NA20129.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0006 a0001c0001 a0003c0003 a0008c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0003c0003t0001 a0008c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0046 others(34): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0113 a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0169 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0233 a0001c0001t0001g0247 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0284 a0001c0001t0001g0300 a0001c0001t0002g0098 a0001c0001t0004g0026 a0001c0001t0004g0032 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0005g0260 a0001c0001t0012g0112 a0001c0001t0014g0036 a0001c0001t0015g0275 a0003c0003t0001g0257 a0008c0006t0001g0227	38	304	0.1250	37	c.563 others(52): Show c.563-712_563-711insGGAAGGAAAGAAAAAGAAAGAAAGAAAGAA AGAAGAA		RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	5/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
RGPD2_chr2_87750960_87830796	87825521	C C	CGCCAGGT others(30): Show CGCCAGGTCGAGGCCGCCGCCCGGCCAGGTCGAGGCCG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0007 a0002c0003t0001g0007	1	176	0.0057	37	c.72+ others(50): Show c.72+136_72+137insCGGCCTCGACCTGGCCGGGCGGCGGCCTCGAC CTGGC		RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22						chr2	TogoVar
RGS14_chr5_177352924_177377596	177371067	G G	GCGGGGCG others(30): Show GCGGGGCGGGGCGGGGCGGGGCGGGGCCGGGCCGGGGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18906.hp1 HG03579.hp2 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0083 a0002c0002t0001g0061 a0001c0001t0001g0083 a0002c0002t0001g0061	2	418	0.0048	37	c.125 others(52): Show c.1254+37_1254+38insGGGGCGGGGCGGGGCGGGGCGGGGCCGGGC CGGGGCC		RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS14_chr5_177352924_177377596	177371067	G G	GCGGGGCG others(30): Show GCGGGGCGGGGCGGGGCGGGGCGGGGCGGGGCCGGGGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	418	0.0024	37	c.125 others(52): Show c.1254+37_1254+38insGGGGCGGGGCGGGGCGGGGCGGGGCGGGGC CGGGGCC		RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS17_chr6_152999459_153136282	153122930	T T	TTACTCCA others(30): Show TTACTCCAATGTACATTGGAGTAAATTGGAGTATTTAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0273 a0001c0001t0010g0273	1	338	0.0030	37	c.-26 others(54): Show c.-26+8157_-26+8193dupTTAAATACTCCAATTTACTCCAATGTAC ATTGGAGTA		RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4						chr6	TogoVar
RGS17_chr6_152999459_153136282	153122945	T T	TTGGAGTA others(30): Show TTGGAGTAAATTGGAGTATTTAATACTCCAATGTACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(154): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01258.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01981.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0015 a0001c0002t0021 a0001c0002t0051 a0002c0004t0015	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(152): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0164 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0102 a0001c0001t0002g0113 a0001c0001t0002g0137 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0003g0053 a0001c0001t0003g0134 a0001c0001t0004g0001 a0001c0001t0004g0008 a0001c0001t0004g0022 a0001c0001t0004g0026 a0001c0001t0004g0042 a0001c0001t0004g0047 a0001c0001t0004g0056 a0001c0001t0004g0076 a0001c0001t0004g0078 a0001c0001t0004g0095 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0004g0121 a0001c0001t0004g0139 a0001c0001t0004g0144 a0001c0001t0005g0091 a0001c0001t0005g0104 a0001c0001t0005g0105 a0001c0001t0005g0106 a0001c0001t0005g0122 a0001c0001t0005g0133 a0001c0001t0005g0160 a0001c0001t0006g0009 a0001c0001t0006g0126 a0001c0001t0006g0155 a0001c0001t0007g0014 a0001c0001t0007g0015 a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0001t0007g0018 a0001c0001t0007g0019 a0001c0001t0007g0021 a0001c0001t0007g0125 a0001c0001t0008g0074 a0001c0001t0008g0140 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0009g0103 a0001c0001t0009g0138 a0001c0001t0010g0029 a0001c0001t0011g0132 a0001c0001t0011g0158 a0001c0001t0013g0077 a0001c0001t0014g0033 a0001c0001t0014g0035 a0001c0001t0014g0049 a0001c0001t0014g0057 a0001c0001t0015g0082 a0001c0001t0016g0130 a0001c0001t0017g0154 a0001c0001t0017g0162 a0001c0001t0018g0165 a0001c0001t0019g0156 a0001c0001t0019g0157 a0001c0001t0019g0167 a0001c0001t0020g0145 a0001c0001t0021g0050 a0001c0001t0023g0161 a0001c0001t0023g0166 a0001c0001t0025g0043 a0001c0001t0028g0129 a0001c0001t0030g0112 a0001c0001t0036g0135 a0001c0001t0037g0055 a0001c0001t0040g0277 a0001c0001t0043g0131 a0001c0001t0045g0163 a0001c0001t0047g0159 a0001c0002t0001g0097 a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0081 a0001c0002t0002g0083 a0001c0002t0002g0123 a0001c0002t0003g0071 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0004g0040 a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0008g0124 a0001c0002t0008g0136 a0001c0002t0015g0062 a0001c0002t0015g0068 a0001c0002t0021g0067 a0001c0002t0051g0333 a0002c0004t0015g0141	157	338	0.4645	37	c.-26 others(54): Show c.-26+8178_-26+8179insGTGTACATTGGAGTATTAAATACTCCAA TTTACTCCA		RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4						chr6	TogoVar
RGS17_chr6_152999459_153136282	153122955	T T	TTGGAGTA others(30): Show TTGGAGTATTTAATACTCCAATGTACACTGGAGTAAAC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0100 a0001c0002t0003g0100	1	338	0.0030	37	c.-26 others(54): Show c.-26+8168_-26+8169insGTTTACTCCAGTGTACATTGGAGTATTA AATACTCCA		RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4						chr6	TogoVar
RGS21_chr1_192311992_192372285	192340566	T T	TGTAAAAA others(30): Show TGTAAAAAACTGCCACCAACTTACTTGCTTAAACAATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	302	0.0033	37	c.-60 others(54): Show c.-60-2410_-60-2374dupGTAAAAAACTGCCACCAACTTACTTGCT TAAACAATA		RGS21	ENSG00000253148.1	transcript	ENST00000417209.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS7BP_chr5_64501015_64617319	64605882	G G	GTATATAT others(30): Show GTATATATATGCTATAATATATGTATATTCTGGATACA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	280	0.0036	37	c.683 others(54): Show c.683-3264_683-3263insATATATGTATATTCTGGATACATATATA TATGCTATA		RGS7BP	ENSG00000186479.5	transcript	ENST00000334025.3	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS7BP_chr5_64501015_64617319	64606021	C C	CATATATA others(30): Show CATATATATATGCTATATATATGTATATCTGGATACAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG03491.hp1 HG03834.hp2 others(3): Show HG00639.hp1 HG03491.hp1 HG03834.hp2 NA18967.hp2 NA19074.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0219 a0001c0001t0002g0239 a0001c0001t0002g0241 others(3): Show a0001c0001t0002g0219 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0018g0210	6	280	0.0214	37	c.683 others(54): Show c.683-3130_683-3129insGCTATATATATGTATATCTGGATACATA TATATATAT		RGS7BP	ENSG00000186479.5	transcript	ENST00000334025.3	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS7_chr1_240770514_241362205	241235909	T T	TGAGAGAG others(30): Show TGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	112	0.0089	37	c.78+ others(56): Show c.78+119789_78+119790insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTTCTCTCTC		RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18						chr1	TogoVar
RGS7_chr1_240770514_241362205	241327045	A A	AGGGAGGG others(30): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	112	0.0089	37	c.78+ others(54): Show c.78+28653_78+28654insCCCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCC		RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18						chr1	TogoVar
RHBDL1_chr16_670671_683268	671542	C C	CCACCACA others(30): Show CCACCACAACCCCCCCCCCCCCCCCCAGCAAGTCGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	37	c.-42 others(48): Show c.-4249_-4248insCACCACAACCCCCCCCCCCCCCCCCAGCAAGTCG GCT		RHBDL1	ENSG00000103269.14	transcript	ENST00000352681.8	protein_coding					4128		chr16	TogoVar
RHD_chr1_25267509_25335445	25300925	T T	TCTTACTG others(30): Show TCTTACTGGGTTTTATTGCAGACAGACTACCACATGAA	frameshift_variant frameshift_variant	HIGH	HG01106.hp2 HG01106.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0017 a0008c0008t0017	a0008c0008t0017g0203 a0008c0008t0017g0203	1	214	0.0047	37	c.487 others(47): Show c.487-19_504dupTTACTGGGTTTTATTGCAGACAGACTACCACATGA AC	p.Met others(5): Show p.Met169fs	RHD	ENSG00000187010.21	transcript	ENST00000328664.9	protein_coding	4/10	544/2814	505/1254	169/417		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHOB_chr2_20442074_20454440	20442568	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03831.hp2 NA18952.hp2 HG03453.hp2 HG03831.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	368	0.0082	37	c.-48 others(48): Show c.-4898_-4897insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding					4505		chr2	TogoVar
RIMBP2_chr12_130391133_130721299	130542149	C C	CAGAGAGA others(30): Show CAGAGAGAGAGGGGAAAGGATGCTGGCTAGGAAATTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01256.hp2 NA18964.hp1 others(3): Show HG00741.hp1 HG01256.hp2 NA18964.hp1 NA18964.hp2 NA18980.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0007t0001	a0001c0001t0001g0092 a0001c0003t0001g0077 a0001c0003t0001g0116 others(3): Show a0001c0001t0001g0092 a0001c0003t0001g0077 a0001c0003t0001g0116 a0001c0004t0001g0001 a0001c0005t0001g0047 a0001c0007t0001g0024	6	180	0.0333	37	c.-21 others(58): Show c.-216-24233_-216-24232insAAAATTTCCTAGCCAGCATCCTTT CCCCTCTCTCTCT		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22						chr12	TogoVar
RIMS2_chr8_103495610_104259430	104101000	A A	ATATATTA others(30): Show ATATATTATATATTACATATGTAATATATGTTATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03209.hp2 HG02486.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0017 a0002c0002t0003 a0002c0002t0017	a0002c0002t0003g0126 a0002c0002t0017g0064 a0002c0002t0003g0126 a0002c0002t0017g0064	2	172	0.0116	37	c.386 others(56): Show c.3866+7362_3866+7363insTATATATTACATATGTAATATATGTT ATATATTATAT		RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	24/29					INFO_REALIGN_3_PRIME	chr8	TogoVar
RIN3_chr14_92508781_92693994	92561042	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02738.hp2 HG02683.hp2 HG02738.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0304 a0003c0003t0001g0261 a0001c0001t0001g0304 a0003c0003t0001g0261	2	334	0.0060	37	c.249 others(54): Show c.249+5087_249+5088insTATATATATATATATATATATATATATA TATATATAT		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9						chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA20805.hp1 NA20805.hp2 NA19054.hp1 NA20805.hp1 NA20805.hp2	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0002 a0003c0003 a0009c0008 a0002c0002 a0003c0003 a0009c0008	a0002c0002t0001 a0003c0003t0002 a0009c0008t0001 a0002c0002t0001 a0003c0003t0002 a0009c0008t0001	a0002c0002t0001g0181 a0003c0003t0002g0262 a0009c0008t0001g0088 a0002c0002t0001g0181 a0003c0003t0002g0262 a0009c0008t0001g0088	3	334	0.0090	37	c.249 others(54): Show c.249+5090_249+5091insATATATATATATATATATATATATATAT ATATATATA		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01258.hp2 HG03688.hp1 others(2): Show HG01069.hp2 HG01258.hp2 HG03688.hp1 NA18747.hp1 NA19000.hp1	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0006	a0002c0002 a0003c0003 a0005c0006 others(1): Show a0002c0002 a0003c0003 a0005c0006 a0006c0005	a0002c0002t0001 a0002c0002t0006 a0003c0003t0001 others(2): Show a0002c0002t0001 a0002c0002t0006 a0003c0003t0001 a0005c0006t0002 a0006c0005t0001	a0002c0002t0001g0288 a0002c0002t0006g0040 a0003c0003t0001g0158 others(2): Show a0002c0002t0001g0288 a0002c0002t0006g0040 a0003c0003t0001g0158 a0005c0006t0002g0017 a0006c0005t0001g0311	5	334	0.0150	37	c.249 others(54): Show c.249+5089_249+5090insTATATATATATATATATATATATATATA TATATATAT		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9						chr14	TogoVar
RLBP1_chr15_89204869_89226579	89205180	C C	CTCTCTCT others(30): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	414	0.0024	37	c.51 others(48): Show c.5104_*5105insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGA		RLBP1	ENSG00000140522.12	transcript	ENST00000268125.10	protein_coding					4688		chr15	TogoVar
RLF_chr1_40156387_40245921	40200915	C C	CACAGTGG others(30): Show CACAGTGGTTTATCCTTAGTATAAACCATTGCTACTCT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00423.hp2 HG00558.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0314 a0005c0005t0001g0318 a0005c0005t0001g0314 a0005c0005t0001g0318	2	338	0.0059	37	c.608 others(54): Show c.608-1494_608-1493insGTGGTTTATCCTTAGTATAAACCATTGC TACTCTACA		RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
RLF_chr1_40156387_40245921	40200919	C C	CACAGTGG others(30): Show CACAGTGGTTTATCCTTAGTATAAACCATTGCTACTCT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 HG02895.hp1 others(2): Show HG02145.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp1 NA20300.hp2	a0003 a0010 a0003 a0010	a0003c0003 a0010c0014 a0003c0003 a0010c0014	a0003c0003t0001 a0010c0014t0001 a0003c0003t0001 a0010c0014t0001	a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0336 others(2): Show a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0336 a0010c0014t0001g0337 a0010c0014t0001g0338	5	338	0.0148	37	c.608 others(54): Show c.608-1490_608-1489insGTGGTTTATCCTTAGTATAAACCATTGC TACTCTACA		RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
RMDN3_chr15_40730887_40760254	40741620	A A	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0278 a0001c0001t0003g0278	1	404	0.0025	37	c.911 others(54): Show c.911-1428_911-1427insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		RMDN3	ENSG00000137824.16	transcript	ENST00000338376.8	protein_coding	6/12						chr15	TogoVar
RNASE2_chr14_20950487_20961436	20951885	A A	AAAGAAAG others(30): Show AAAGAAAGAAAGAAAGAAAGAGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	37	c.-36 others(48): Show c.-3657_-3656insAAGAAAGAAAGAAAGAAAGAGAAGGAAGGAAGGA AGG		RNASE2	ENSG00000169385.3	transcript	ENST00000304625.3	protein_coding					3601		chr14	TogoVar
RND1_chr12_48852145_48870870	48863584	A A	AGCCGGCG others(30): Show AGCCGGCGCAAGATAAGACCAGACTAGATGCAGAGTAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	400	0.0025	37	c.208 others(54): Show c.208+1198_208+1199insGTACTCTGCATCTAGTCTGGTCTTATCT TGCGCCGGC		RND1	ENSG00000172602.11	transcript	ENST00000309739.6	protein_coding	2/4						chr12	TogoVar
RNF128_chrX_106721701_106802016	106789429	A A	AGTATATA others(30): Show AGTATATATTATATACATTATACACTATATAATATAGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00438.hp1 HG00438.hp2 others(172): Show HG00140.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02293.hp1 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(156): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0154 a0001c0001t0003g0015 a0001c0001t0003g0130 a0001c0001t0003g0136 a0001c0001t0003g0141 a0001c0001t0003g0159 a0001c0001t0004g0128 a0001c0001t0005g0052 a0001c0001t0006g0001 a0001c0001t0007g0075 a0002c0002t0001g0058 a0003c0003t0003g0015	175	209	0.8373	37	c.888 others(52): Show c.888-726_888-690dupATATAGTGTATATATTATATACATTATACA CTATATA		RNF128	ENSG00000133135.14	transcript	ENST00000255499.3	protein_coding	4/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
RNF128_chrX_106721701_106802016	106794976	A A	AAACTAAT others(30): Show AAACTAATATTTCACTTTACATCCAAACATCACTTTGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	209	0.0048	37	c.115 others(54): Show c.1154-604_1154-603insAACTAATATTTCACTTTACATCCAAACA TCACTTTGG		RNF128	ENSG00000133135.14	transcript	ENST00000255499.3	protein_coding	6/6						chrX	TogoVar
RNF130_chr5_179950067_180076759	179998886	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0131 a0001c0004t0001g0131	1	340	0.0029	37	c.693 others(56): Show c.693+14174_693+14175insTATATATATATATATATATATATATA TATATATATAT		RNF130	ENSG00000113269.14	transcript	ENST00000521389.6	protein_coding	3/8						chr5	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(30): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0281 a0001c0001t0007g0281	1	374	0.0027	37	c.-48 others(54): Show c.-48+1422_-48+1423insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TATATATAT		RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5						chr11	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01071.hp1 HG01081.hp1 others(33): Show HG00323.hp1 HG01071.hp1 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01346.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02056.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp1 HG02523.hp2 HG02698.hp1 HG02735.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp2 NA18522.hp2 NA18957.hp2 NA18967.hp2 NA18970.hp1 NA18974.hp1 NA18982.hp1 NA18984.hp2 NA18992.hp1 NA18993.hp2 NA18999.hp2 NA19058.hp1 NA19065.hp1 NA19076.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0018 a0002c0003t0001	a0001c0001t0001g0149 a0001c0001t0001g0180 a0001c0001t0003g0026 others(24): Show a0001c0001t0001g0149 a0001c0001t0001g0180 a0001c0001t0003g0026 a0001c0001t0003g0150 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0002t0001g0005 a0001c0002t0001g0014 a0001c0002t0001g0025 a0001c0002t0001g0031 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0207 a0001c0002t0001g0283 a0001c0002t0018g0145 a0002c0003t0001g0019	36	374	0.0963	37	c.-48 others(54): Show c.-48+1422_-48+1423insTATATATATATATATATATATATATATA TATATATAT		RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5						chr11	TogoVar
RNF145_chr5_159152409_159214553	159189091	T T	TATAGATC others(30): Show TATAGATCTGATAAGGGACTTGTATATATTTGCAAATC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	394	0.0025	37	c.293 others(54): Show c.293+5588_293+5624dupGATTTGCAAATATATACAAGTCCCTTAT CAGATCTAT		RNF145	ENSG00000145860.13	transcript	ENST00000424310.7	protein_coding	3/10						chr5	TogoVar
RNF150_chr4_140854807_141138469	140999993	A A	AGAAGAAG others(30): Show AGAAGAAGAAGAAGAAGAAGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0010 a0001c0001t0021g0010	1	184	0.0054	37	c.485 others(56): Show c.485-32121_485-32120insCTCCTCCTCCTCCTCCTCCTTCTTCT TCTTCTTCTTC		RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6						chr4	TogoVar
RNF151_chr16_1961856_1973949	1971769	T T	TAAAAGAA others(30): Show TAAAAGAAAAGGAGAATAAAGAAAAAATAAAAGAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	432	0.0023	37	c.28 others(48): Show c.2844_*2845insAAAAGAAAAGGAGAATAAAGAAAAAATAAAAGAA AAA		RNF151	ENSG00000179580.10	transcript	ENST00000569714.6	protein_coding					2821		chr16	TogoVar

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