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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RFTN1_chr3_16310845_16518699	16403970	T T	TATAATAT others(34): Show TATAATATAATATATATTTTATATATAATATATAATATAATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00597.hp1 HG01069.hp2 others(44): Show HG00099.hp2 HG00597.hp1 HG01069.hp2 HG01106.hp2 HG01123.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01993.hp2 HG02015.hp1 HG02056.hp2 HG02074.hp1 HG02257.hp1 HG02273.hp1 HG02735.hp1 HG02735.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 NA18612.hp2 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18964.hp1 NA18966.hp2 NA18977.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA19004.hp2 NA19007.hp2 NA19066.hp1 NA19070.hp1 NA19084.hp2 NA19087.hp2 NA19091.hp2 NA20805.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0009	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0008c0010 a0009c0014	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(4): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0002c0003t0003 a0008c0010t0001 a0009c0014t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 others(44): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0092 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0238 a0001c0001t0001g0263 a0001c0002t0002g0005 a0001c0002t0002g0033 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0096 a0001c0002t0002g0131 a0001c0002t0002g0156 a0001c0002t0002g0198 a0001c0002t0002g0199 a0001c0002t0002g0229 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0005g0214 a0001c0002t0008g0152 a0001c0002t0008g0182 a0002c0003t0003g0049 a0002c0003t0003g0246 a0008c0010t0001g0151 a0009c0014t0001g0157	47	268	0.1754	41	c.441 others(58): Show c.441+5404_441+5405insTATTATATTATATATTATATATAAAATA TATATTATATTAT	RFTN1	ENSG00000131378.14	transcript	ENST00000334133.9	protein_coding	4/9			chr3	TogoVar
RGMA_chr15_93030271_93094211	93038569	G G	GTTTTTTT others(34): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0176 a0002c0003t0176	a0002c0003t0176g0170 a0002c0003t0176g0170	1	414	0.0024	41	c.64 others(52): Show c.6428_*6429insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	RGMA	ENSG00000182175.15	transcript	ENST00000329082.12	protein_coding	4/4	6428		chr15	TogoVar
RGN_chrX_47073443_47098313	47090957	A A	AAAGAAAG others(34): Show AAAGAAAGAAGGAAGGAAAGAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0202 a0001c0001t0004g0202	1	304	0.0033	41	c.563 others(56): Show c.563-712_563-711insGGAAGGAAAGAAAAAGAAAGAAAGAAAGAA AGAAGAAAGAA	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(34): Show AAAGAAAGAAGGAAGGAAAGAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	304	0.0033	41	c.563 others(56): Show c.563-708_563-707insGGAAGGAAAGAAAAAGAAAGAAAGAAAGAA AGAAGAAAGAA	RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding	5/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
RGPD2_chr2_87750960_87830796	87824769	C C	CCGGCCAG others(34): Show CCGGCCAGGCCGAGGCCGCCGCCGCCGCCGCCGCCGCCGCCG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0027 a0003c0027	a0003c0027t0013 a0003c0027t0013	a0003c0027t0013g0039 a0003c0027t0013g0039	1	176	0.0057	41	c.72+ others(54): Show c.72+888_72+889insCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCG GCCTGGCCG	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGAGGGTG others(34): Show GGAGGGTGGAGAGTTGGGGGTGTGGGGGGAGGGGAGGGTGGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00621.hp1 others(69): Show HG00140.hp2 HG00438.hp2 HG00621.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG03098.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18945.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18975.hp1 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18994.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19064.hp2 NA19080.hp1 NA19081.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0022	a0001c0003 a0001c0005 a0001c0009 others(8): Show a0001c0003 a0001c0005 a0001c0009 a0001c0014 a0001c0020 a0001c0027 a0002c0022 a0003c0016 a0007c0024 a0007c0025 a0022c0035	a0001c0003t0001 a0001c0005t0001 a0001c0009t0001 others(9): Show a0001c0003t0001 a0001c0005t0001 a0001c0009t0001 a0001c0014t0001 a0001c0020t0001 a0001c0027t0001 a0002c0022t0001 a0002c0022t0004 a0003c0016t0001 a0007c0024t0001 a0007c0025t0001 a0022c0035t0001	a0001c0003t0001g0106 a0001c0003t0001g0273 a0001c0003t0001g0275 others(69): Show a0001c0003t0001g0106 a0001c0003t0001g0273 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0278 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 a0001c0003t0001g0287 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0290 a0001c0003t0001g0292 a0001c0003t0001g0294 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0309 a0001c0005t0001g0021 a0001c0005t0001g0110 a0001c0005t0001g0114 a0001c0005t0001g0115 a0001c0005t0001g0116 a0001c0005t0001g0118 a0001c0005t0001g0121 a0001c0005t0001g0122 a0001c0005t0001g0123 a0001c0005t0001g0124 a0001c0005t0001g0125 a0001c0005t0001g0126 a0001c0005t0001g0127 a0001c0005t0001g0128 a0001c0005t0001g0147 a0001c0009t0001g0102 a0001c0009t0001g0103 a0001c0009t0001g0104 a0001c0009t0001g0105 a0001c0009t0001g0113 a0001c0009t0001g0117 a0001c0009t0001g0120 a0001c0014t0001g0029 a0001c0014t0001g0108 a0001c0014t0001g0129 a0001c0014t0001g0130 a0001c0014t0001g0134 a0001c0014t0001g0274 a0001c0014t0001g0300 a0001c0020t0001g0131 a0001c0020t0001g0261 a0001c0020t0001g0262 a0001c0027t0001g0132 a0001c0027t0001g0133 a0002c0022t0001g0112 a0002c0022t0001g0291 a0002c0022t0004g0111 a0003c0016t0001g0208 a0003c0016t0001g0209 a0003c0016t0001g0210 a0007c0024t0001g0281 a0007c0024t0001g0282 a0007c0025t0001g0279 a0007c0025t0001g0280 a0022c0035t0001g0091	72	312	0.2308	41	c.188 others(60): Show c.1882-1263_1882-1262insGGTGGAGAGTTGGGGGTGTGGGGGGA GGGGAGGGTGGAGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS7_chr1_240770514_241362205	241327045	A A	AGGGAGGG others(34): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	112	0.0089	41	c.78+ others(58): Show c.78+28653_78+28654insCCCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCC	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	2/18			chr1	TogoVar
RHBDD2_chr7_75874034_75893926	75882962	G G	GGCCCACA others(34): Show GGCCCACATGAAGCTCACATGGTCGCACTGAGGCAGGTGCCC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0080 a0003c0006t0001g0080	1	394	0.0025	41	c.586 others(56): Show c.586+727_587-695dupGCCCACATGAAGCTCACATGGTCGCACTGA GGCAGGTGCCC	RHBDD2	ENSG00000005486.17	transcript	ENST00000006777.11	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
RHBDL1_chr16_670671_683268	680910	A A	ACCCCCCC others(34): Show ACCCCCCCCCCCCCCCCCCCCGGTCCCCCCCTCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	372	0.0027	41	c.28 others(52): Show c.2858_*2859insCCCCCCCCCCCCCCCCCCCCGGTCCCCCCCTCCC CCCCCCC	RHBDL1	ENSG00000103269.14	transcript	ENST00000352681.8	protein_coding		2643		chr16	TogoVar
RICTOR_chr5_38932920_39079399	38990731	T T	TCTGATAT others(34): Show TCTGATATATATCATATATATGATATATCTGATATATATCAG	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	338	0.0030	41	c.583 others(56): Show c.583+217_583+218insCTGATATATATCAGATATATCATATATATG ATATATATCAG	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	7/37			chr5	TogoVar
RIGI_chr9_32450302_32531196	32450961	T T	TATCAATC others(34): Show TATCAATCAGAACTATATTCTCCCATTTTTACAACTCTATCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01243.hp1 HG02717.hp1 others(5): Show HG01192.hp1 HG01243.hp1 HG02717.hp1 HG02818.hp1 HG03209.hp1 HG03453.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0001c0003 a0001c0020 others(4): Show a0001c0001 a0001c0003 a0001c0020 a0002c0004 a0002c0007 a0005c0018 a0008c0025	a0001c0001t0008 a0001c0003t0008 a0001c0020t0008 others(4): Show a0001c0001t0008 a0001c0003t0008 a0001c0020t0008 a0002c0004t0008 a0002c0007t0008 a0005c0018t0008 a0008c0025t0008	a0001c0001t0008g0072 a0001c0001t0008g0153 a0001c0003t0008g0051 others(5): Show a0001c0001t0008g0072 a0001c0001t0008g0153 a0001c0003t0008g0051 a0001c0020t0008g0257 a0002c0004t0008g0332 a0002c0007t0008g0331 a0005c0018t0008g0255 a0008c0025t0008g0336	8	344	0.0233	41	c.61 others(52): Show c.6160_*6161insTGATAGAGTTGTAAAAATGGGAGAATATAGTTCT GATTGAT	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding		4340		chr9	TogoVar
RIGI_chr9_32450302_32531196	32508239	A A	ATTTTTTT others(34): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0063 a0001c0006t0006g0063	1	344	0.0029	41	c.107 others(58): Show c.107-7301_107-7300insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RIMBP2_chr12_130391133_130721299	130572199	G G	GCCACAGT others(34): Show GCCACAGTGTGGACCGGCCAGGGAGACACAGGTCCCCAGCCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00741.hp2 others(40): Show HG00280.hp2 HG00639.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp1 HG01884.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02071.hp1 HG02071.hp2 HG02129.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02559.hp1 HG02622.hp2 HG02698.hp2 HG02818.hp2 HG02970.hp2 HG03492.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG06807.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18986.hp2 NA19011.hp2 NA19064.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0018	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0019 a0001c0028 a0005c0013 a0008c0015 a0018c0042	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0011t0001 a0001c0019t0001 a0001c0028t0001 a0005c0013t0003 a0008c0015t0001 a0018c0042t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0025 others(40): Show a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0146 a0001c0001t0002g0031 a0001c0001t0002g0084 a0001c0001t0005g0006 a0001c0001t0005g0078 a0001c0002t0001g0036 a0001c0002t0001g0049 a0001c0002t0001g0063 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0152 a0001c0002t0002g0007 a0001c0002t0002g0060 a0001c0003t0001g0048 a0001c0003t0001g0148 a0001c0003t0001g0150 a0001c0003t0002g0079 a0001c0004t0001g0020 a0001c0004t0002g0003 a0001c0005t0001g0032 a0001c0005t0001g0045 a0001c0005t0001g0047 a0001c0006t0001g0033 a0001c0007t0001g0024 a0001c0011t0001g0109 a0001c0011t0001g0159 a0001c0019t0001g0023 a0001c0028t0001g0114 a0005c0013t0003g0175 a0008c0015t0001g0066 a0008c0015t0001g0133 a0018c0042t0001g0120	43	180	0.2389	41	c.-21 others(62): Show c.-216-54283_-216-54282insGGGCTGGGGACCTGTGTCTCCCTG GCCGGTCCACACTGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIN3_chr14_92508781_92693994	92561044	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0213 a0003c0003t0001g0213	1	334	0.0030	41	c.249 others(58): Show c.249+5089_249+5090insTATATATATATATATATATATATATATA TATATATATATAT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	2/9			chr14	TogoVar
RIT2_chr18_42738227_43120685	43057798	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0059 a0001c0001t0006g0059	1	240	0.0042	41	c.104 others(60): Show c.104-23932_104-23931insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	1/4			chr18	TogoVar
RLF_chr1_40156387_40245921	40200917	C C	CACACACA others(34): Show CACACACAGTGGTTTATCCTTAGTATAAACCATTGCTACTCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0331 a0003c0003t0001g0331	1	338	0.0030	41	c.608 others(58): Show c.608-1488_608-1487insGTGGTTTATCCTTAGTATAAACCATTGC TACTCTACACACA	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RLF_chr1_40156387_40245921	40200919	C C	CACACACA others(34): Show CACACACAGTGGTTTATCCTTAGTATAAACCATTGCTACTCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp2 NA20129.hp2 HG02630.hp2 HG03041.hp2 NA20129.hp2	a0003 a0016 a0003 a0016	a0003c0003 a0016c0022 a0003c0003 a0016c0022	a0003c0003t0001 a0016c0022t0001 a0003c0003t0001 a0016c0022t0001	a0003c0003t0001g0324 a0003c0003t0001g0325 a0016c0022t0001g0333 a0003c0003t0001g0324 a0003c0003t0001g0325 a0016c0022t0001g0333	3	338	0.0089	41	c.608 others(58): Show c.608-1486_608-1485insGTGGTTTATCCTTAGTATAAACCATTGC TACTCTACACACA	RLF	ENSG00000117000.9	transcript	ENST00000372771.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(34): Show TATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0279 a0001c0001t0007g0279	1	374	0.0027	41	c.-48 others(58): Show c.-48+1422_-48+1423insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF141_chr11_10506673_10546187	10539699	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp2 HG01175.hp1 others(9): Show HG00323.hp2 HG01099.hp2 HG01175.hp1 HG02300.hp2 NA18957.hp1 NA18977.hp1 NA18985.hp1 NA18990.hp2 NA18997.hp1 NA19054.hp2 NA19064.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0025 a0001c0002t0001 others(1): Show a0001c0001t0005 a0001c0001t0025 a0001c0002t0001 a0001c0002t0009	a0001c0001t0005g0290 a0001c0001t0025g0117 a0001c0002t0001g0108 others(9): Show a0001c0001t0005g0290 a0001c0001t0025g0117 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0276 a0001c0002t0009g0113	12	374	0.0321	41	c.-48 others(58): Show c.-48+1422_-48+1423insTATATATATATATATATATATATATATA TATATATATATAT	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF141_chr11_10506673_10546187	10539701	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATGAAT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	374	0.0027	41	c.-48 others(58): Show c.-48+1420_-48+1421insATTCATATATATATATATATATATATAT ATATATATATATA	RNF141	ENSG00000110315.7	transcript	ENST00000265981.7	protein_coding	1/5			chr11	TogoVar
RNF187_chr1_228482382_228501188	228492421	A A	AAGCGATT others(34): Show AAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	422	0.0024	41	c.484 others(56): Show c.484-618_484-617insCTCAGCCTCCCAAGTAGCTGGGACTACAGC GATTCTCCTGC	RNF187	ENSG00000168159.15	transcript	ENST00000305943.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF2_chr1_185040558_185107603	185076268	G G	GTTTTTTT others(34): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18906.hp1 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0330 a0001c0001t0014g0184 a0001c0001t0003g0330 a0001c0001t0014g0184	2	350	0.0057	41	c.-2- others(58): Show c.-2-11244_-2-11243insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF2_chr1_185040558_185107603	185082345	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18957.hp1 HG01346.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0112 a0001c0001t0004g0239 a0001c0001t0001g0112 a0001c0001t0004g0239	2	350	0.0057	41	c.-2- others(56): Show c.-2-5185_-2-5184insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ROBO1_chr3_78592239_79772998	79334334	G G	GTATATAT others(34): Show GTATATATATGTATATATGTATATATATATGTATATATATTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG01884.hp2 HG02280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0009 a0002c0004t0007g0010 a0002c0004t0007g0009 a0002c0004t0007g0010	2	44	0.0455	41	c.89- others(60): Show c.89-208836_89-208796dupAAATATATATACATATATATATACAT ATATACATATATATA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79496387	C C	CATTTTTT others(34): Show CATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0015 a0002c0004t0001g0015	1	44	0.0227	41	c.88+ others(58): Show c.88+93436_88+93437insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79502728	A A	ATTGTAAA others(34): Show ATTGTAAATACACCAATCAGCACTCTGTATCTAGCTCAAGGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01243.hp2 others(35): Show HG01109.hp1 HG01109.hp2 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02280.hp1 HG02451.hp2 HG02717.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0002c0004 a0003c0006 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0016 a0001c0003t0006 a0001c0005t0002 a0001c0005t0005 a0001c0007t0003 a0001c0008t0003 a0001c0008t0015 a0001c0011t0001 a0002c0004t0001 a0002c0004t0007 a0003c0006t0006 a0004c0010t0002	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 others(35): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0002g0007 a0001c0001t0002g0039 a0001c0001t0003g0036 a0001c0001t0005g0005 a0001c0001t0005g0035 a0001c0001t0008g0024 a0001c0001t0009g0006 a0001c0001t0010g0034 a0001c0001t0011g0025 a0001c0001t0012g0027 a0001c0001t0014g0041 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0003g0016 a0001c0002t0004g0017 a0001c0002t0004g0021 a0001c0002t0013g0008 a0001c0002t0016g0044 a0001c0003t0006g0018 a0001c0005t0002g0029 a0001c0005t0002g0030 a0001c0005t0005g0004 a0001c0007t0003g0003 a0001c0007t0003g0032 a0001c0008t0003g0037 a0001c0008t0015g0043 a0001c0011t0001g0038 a0002c0004t0001g0015 a0002c0004t0007g0009 a0002c0004t0007g0010 a0003c0006t0006g0011 a0003c0006t0006g0040 a0004c0010t0002g0031	38	44	0.8636	41	c.88+ others(58): Show c.88+87095_88+87096insACCTTGAGCTAGATACAGAGTGCTGATT GGTGTATTTACAA	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO1_chr3_78592239_79772998	79550195	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	1	44	0.0227	41	c.88+ others(58): Show c.88+39628_88+39629insTTTTCTTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTT	ROBO1	ENSG00000169855.21	transcript	ENST00000464233.6	protein_coding	2/30			chr3	TogoVar
ROBO2_chr3_77035099_77654964	77277212	C C	CTTTCTTT others(34): Show CTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTGTCTTTCT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0132	1	160	0.0063	41	c.388 others(62): Show c.388+178874_388+178875insTCTTTCTTTCTTTCTTCTTTCTTT CTTTCTTGTCTTTCTTT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0055 a0002c0002t0003g0055	1	320	0.0031	41	c.142 others(58): Show c.142-8255_142-8254insTCTCCCCTCTCTCTCTCTCTCCTCTCTC TCTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18944.hp1 HG03710.hp2 NA18944.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0073 a0002c0002t0003g0037 a0002c0002t0002g0073 a0002c0002t0003g0037	2	320	0.0063	41	c.142 others(58): Show c.142-8255_142-8254insTCTCTCTCCCCTCTCTCTCTCTCTCCTC TCTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0029 a0002c0002t0014g0029	1	320	0.0031	41	c.142 others(58): Show c.142-8255_142-8254insTCTCTCTCTCCCCTCTCTCTCTCTCTCC TCTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
ROCK2_chr2_11174759_11349636	11295990	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGGAGAGAGAGAGAGAGGGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp2 HG00438.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0041 a0002c0002t0002 a0002c0002t0041	a0002c0002t0002g0067 a0002c0002t0041g0084 a0002c0002t0002g0067 a0002c0002t0041g0084	2	320	0.0063	41	c.142 others(58): Show c.142-8255_142-8254insTCTCTCTCTCTCCCCTCTCTCTCTCTCT CCTCTCTCTCTCT	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	1/32			chr2	TogoVar
RPA4_chrX_96878908_96890467	96881057	T T	TGAGGAAG others(34): Show TGAGGAAGGGAAAGAAAGGGGAAAGAGAAGGGAGGAAAGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	319	0.0031	41	c.-32 others(52): Show c.-3254_-3253insGAGGAAGGGAAAGAAAGGGGAAAGAGAAGGGAGG AAAGAGG	RPA4	ENSG00000204086.4	transcript	ENST00000373040.4	protein_coding		2850		chrX	TogoVar
RPH3AL_chr17_207389_357807	319893	G G	GGGGGGGA others(34): Show GGGGGGGAGGGAGGGGGAGGGGGAGGGGGGAGGGAGATTGAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0103 a0001c0002t0029g0103	1	133	0.0075	41	c.222 others(56): Show c.222-345_222-344insTTCAATCTCCCTCCCCCCTCCCCCTCCCCC TCCCTCCCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	4/9			chr17	TogoVar
RPH3A_chr12_112786748_112903881	112791867	G G	GAGAGAGA others(34): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0069 a0002c0004t0069	a0002c0004t0069g0162 a0002c0004t0069g0162	1	266	0.0038	41	c.-28 others(50): Show c.-285_-284insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGA	RPH3A	ENSG00000089169.15	transcript	ENST00000389385.9	protein_coding	1/22	36451		chr12	TogoVar
RPL10_chrX_154393377_154407332	154396712	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG02145.hp1 HG01978.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0002 a0002c0002t0002g0004	2	276	0.0073	41	c.-17 others(52): Show c.-1706_-1705insTATATATATATATATATATATATATTTTTTTTTT TTTTTTT	RPL10	ENSG00000147403.18	transcript	ENST00000369817.7	protein_coding		1664		chrX	TogoVar
RPL4_chr15_66493015_66509855	66509844	T T	TGAATGAG others(34): Show TGAATGAGAAGCTGTAATATCTATAATTATGTGTGTGTGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0057 a0001c0001t0007g0057	1	428	0.0023	41	c.-50 others(52): Show c.-5055_-5054insCCACACACACACATAATTATAGATATTACAGCTT CTCATTC	RPL4	ENSG00000174444.15	transcript	ENST00000307961.11	protein_coding		4990		chr15	TogoVar
RPS6KA4_chr11_64354162_64377215	64354829	T T	TCTCCCTG others(34): Show TCTCCCTGCATGAGCCTCAGCCTCCTCCCCTCCTCTGACCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp2 NA18948.hp2 HG00423.hp1 HG00438.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0044 a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0044	3	402	0.0075	41	c.-44 others(52): Show c.-4407_-4406insCTCCCTGCATGAGCCTCAGCCTCCTCCCCTCCTC TGACCCC	RPS6KA4	ENSG00000162302.13	transcript	ENST00000334205.9	protein_coding		4332		chr11	TogoVar
RPS6KC1_chr1_213046241_213279774	213118021	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18956.hp2 NA19064.hp1 NA18953.hp1 NA18956.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0038 a0001c0001t0001g0296 a0001c0001t0001g0302	3	330	0.0091	41	c.472 others(56): Show c.472+629_472+630insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(34): Show TCTCTCTCTCTCTCTCTCGCTCTCTCTCTCTCGCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0339 a0001c0001t0001g0339	1	366	0.0027	41	c.-15 others(52): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCGCTCTCTCTCTCTCGCT CTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(34): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 NA19005.hp1 NA19010.hp1 HG02622.hp1 NA19005.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0114 a0001c0001t0014 a0001c0001t0114	a0001c0001t0014g0259 a0001c0001t0014g0335 a0001c0001t0114g0275 a0001c0001t0014g0259 a0001c0001t0014g0335 a0001c0001t0114g0275	3	366	0.0082	41	c.-15 others(52): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCT CTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(34): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00609.hp1 others(6): Show HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG01109.hp2 NA18957.hp1 NA19002.hp2 NA19058.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0038 a0001c0001t0116 a0001c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0258 a0001c0001t0001g0268 others(6): Show a0001c0001t0001g0005 a0001c0001t0001g0258 a0001c0001t0001g0268 a0001c0001t0001g0318 a0001c0001t0006g0317 a0001c0001t0014g0270 a0001c0001t0038g0261 a0001c0001t0116g0304 a0001c0012t0001g0290	9	366	0.0246	41	c.-15 others(52): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCG CTCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RPSA2_chr19_23758004_23833868	23761906	T T	TCTCTCTC others(34): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCGCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18977.hp2 NA18981.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0049 a0001c0001t0057 a0001c0014t0001 a0001c0001t0049 a0001c0001t0057 a0001c0014t0001	a0001c0001t0049g0312 a0001c0001t0057g0296 a0001c0014t0001g0289 a0001c0001t0049g0312 a0001c0001t0057g0296 a0001c0014t0001g0289	3	366	0.0082	41	c.-15 others(52): Show c.-1531_-1530insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CGCTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1097		chr19	TogoVar
RRAGB_chrX_55712749_55763774	55749490	A A	AGTGAGGA others(34): Show AGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCGGGAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	276	0.0036	41	c.517 others(58): Show c.517-1587_517-1586insGTCGCCCCGTCCGGGAGGTGAGGAGCCC CTCTGCCCGGCCA	RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
RSPH10B2_chr7_6749103_6803765	6776122	C C	CAATTCTG others(34): Show CAATTCTGCCTCAGCCTCCTGAGTAGCTGGGGTTACAGGCAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0108 a0002c0025t0001g0108	1	108	0.0093	41	c.122 others(58): Show c.1225-234_1225-194dupAATTCTGCCTCAGCCTCCTGAGTAGCTG GGGTTACAGGCAT	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH10B2_chr7_6749103_6803765	6793914	T T	TCCTTTGC others(34): Show TCCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATGCTCA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02135.hp1 HG03239.hp2 others(1): Show HG02074.hp1 HG02135.hp1 HG03239.hp2 HG03688.hp2	a0002 a0004 a0002 a0004	a0002c0006 a0004c0004 a0002c0006 a0004c0004	a0002c0006t0001 a0004c0004t0001 a0002c0006t0001 a0004c0004t0001	a0002c0006t0001g0081 a0004c0004t0001g0049 a0004c0004t0001g0102 others(1): Show a0002c0006t0001g0081 a0004c0004t0001g0049 a0004c0004t0001g0102 a0004c0004t0001g0103	4	108	0.0370	41	c.223 others(60): Show c.2233+2036_2233+2076dupGCTCACCTTTGCTGCTAGGCATCTTG GGGGGCTGTGTACAT	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH10B2_chr7_6749103_6803765	6794035	T T	TCACCTTT others(34): Show TCACCTTTGCTGCTAGGCATCTTGGGGGGCTGTGTACATGTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0001 a0004c0020t0001	a0004c0020t0001g0045 a0004c0020t0001g0045	1	108	0.0093	41	c.223 others(60): Show c.2233+2076_2233+2077insGTACACCTTTGCTGCTAGGCATCTTG GGGGGCTGTGTACAT	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH10B2_chr7_6749103_6803765	6794093	C C	CATCTTGG others(34): Show CATCTTGGGGGGCTGTGTACATGCTCACCTTTGCTGCTAGGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03942.hp2 HG04228.hp1 HG01884.hp2 HG03942.hp2 HG04228.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0029	3	108	0.0278	41	c.223 others(60): Show c.2233+2119_2233+2159dupCTCACCTTTGCTGCTAGGTATCTTGG GGGGCTGTGTACATG	RSPH10B2	ENSG00000169402.16	transcript	ENST00000404077.6	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
RSPH10B_chr7_5921136_5975689	5930783	A A	ACCTAGCA others(34): Show ACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0007 a0001c0009t0001g0007	1	70	0.0143	41	c.223 others(60): Show c.2233+1958_2233+1998dupCATCTTGGGGGGCTGTGTACATGCTC ACCTTTGCTGCTAGG	RSPH10B	ENSG00000155026.17	transcript	ENST00000404406.6	protein_coding	19/20			chr7	TogoVar
RSPH1_chr21_42467486_42501224	42476973	T T	TGGGGATG others(34): Show TGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0043 a0002c0003t0001g0043	1	408	0.0025	41	c.727 others(56): Show c.727+317_727+318insGGGCTGTGGGGTGGAGGGGTCAGAGGGTGT GGGGCATCCCC	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar

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