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
RORA_chr15_60483284_61234302	60873233	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTCTGTGTGTGTGTGTC	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0024 a0001c0005t0004g0024	1	118	0.0085	-30	c.167 others(51): Show c.167-194577_167-194548delGACACACACACACAGACACACACA CACACA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	61040113	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0086 a0001c0001t0046g0086	1	118	0.0085	-30	c.166 others(51): Show c.166+188910_166+188939delATATATATATATATATATATATAT ATATAT	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RP2_chrX_46832043_46887358	46879588	AATAATTA others(23): Show AATAATTAGCTTGGAACTTTGTTCTGTGGAG	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	274	0.0037	-30	c.970 others(43): Show c.970-96_970-67delTAATTAGCTTGGAACTTTGTTCTGTGGAGA	RP2	ENSG00000102218.6	transcript	ENST00000218340.4	protein_coding	4/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RPAP2_chr1_92294059_92407056	92309550	CACATACA others(23): Show CACATACACATACACATACACATATACATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02145.hp2 others(8): Show HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02280.hp1 HG02486.hp2 HG03139.hp2 HG06807.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0020 a0001c0003 a0001c0020	a0001c0003t0009 a0001c0003t0012 a0001c0003t0072 others(2): Show a0001c0003t0009 a0001c0003t0012 a0001c0003t0072 a0001c0003t0074 a0001c0020t0018	a0001c0003t0009g0001 a0001c0003t0009g0147 a0001c0003t0012g0001 others(6): Show a0001c0003t0009g0001 a0001c0003t0009g0147 a0001c0003t0012g0001 a0001c0003t0012g0145 a0001c0003t0012g0146 a0001c0003t0072g0149 a0001c0003t0074g0148 a0001c0020t0018g0160 a0001c0020t0018g0161	11	192	0.0573	-30	c.488 others(47): Show c.488+2298_488+2327delTACATATACATACACATACACATACACA TA	RPAP2	ENSG00000122484.9	transcript	ENST00000610020.2	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPH3AL_chr17_207389_357807	288503	TCGCACCC others(23): Show TCGCACCCTCTCTCTCCACCGTCAGACCTCG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG03831.hp2 HG02071.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0091 a0001c0002t0007g0112 a0001c0001t0001g0091 a0001c0002t0007g0112	2	133	0.0150	-30	c.352 others(47): Show c.352-6679_352-6650delCGAGGTCTGACGGTGGAGAGAGAGGGTG CG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	316683	CCTGTGCC others(23): Show CCTGTGCCCCACCTCCATTGACCTGTAGTCT	C C	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0074 a0001c0001t0035g0074	1	133	0.0075	-30	c.351 others(47): Show c.351+2707_351+2736delAGACTACAGGTCAATGGAGGTGGGGCAC AG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	316779	CCCCCACC others(23): Show CCCCCACCTCCATTGACCTGTAGTCCCTGTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	133	0.0075	-30	c.351 others(47): Show c.351+2611_351+2640delCACAGGGACTACAGGTCAATGGAGGTGG GG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPL14_chr3_40452339_40473587	40472063	CATGTTAT others(23): Show CATGTTATGTTATGTTATGTTATGTTATGTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02622.hp1 others(14): Show HG01891.hp2 HG02486.hp1 HG02622.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA19030.hp1 NA20129.hp1	a0005 a0008 a0011 a0005 a0008 a0011	a0005c0005 a0008c0009 a0011c0011 a0005c0005 a0008c0009 a0011c0011	a0005c0005t0045 a0005c0005t0049 a0005c0005t0050 others(8): Show a0005c0005t0045 a0005c0005t0049 a0005c0005t0050 a0005c0005t0052 a0008c0009t0011 a0008c0009t0023 a0008c0009t0048 a0008c0009t0056 a0011c0011t0024 a0011c0011t0046 a0011c0011t0047	a0005c0005t0045g0092 a0005c0005t0049g0059 a0005c0005t0050g0034 others(10): Show a0005c0005t0045g0092 a0005c0005t0049g0059 a0005c0005t0050g0034 a0005c0005t0052g0034 a0008c0009t0011g0017 a0008c0009t0011g0028 a0008c0009t0011g0093 a0008c0009t0023g0017 a0008c0009t0048g0028 a0008c0009t0056g0017 a0011c0011t0024g0023 a0011c0011t0046g0023 a0011c0011t0047g0023	17	418	0.0407	-30	c.98 others(41): Show c.9832_*9861delATGTTATGTTATGTTATGTTATGTTATGTT	RPL14	ENSG00000188846.14	transcript	ENST00000396203.7	protein_coding		3477		chr3	TogoVar
RPL21_chr13_27246558_27261568	27256854	GAGTGCAA others(23): Show GAGTGCAATGGTGTGATCTCGGCTCACTGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	424	0.0024	-30	c.33 others(39): Show c.330_*359delAGTGCAATGGTGTGATCTCGGCTCACTGCA	RPL21	ENSG00000122026.11	transcript	ENST00000311549.11	protein_coding		287		chr13	TogoVar
RPL26_chr17_8372516_8388193	8384050	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19077.hp1 NA19074.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	422	0.0047	-30	c.-92 others(39): Show c.-929_-900delACACACACACACACACACACACACACACAC	RPL26	ENSG00000161970.15	transcript	ENST00000648839.1	protein_coding		858		chr17	TogoVar
RPL3L_chr16_1938974_1959689	1949734	CGGGGCAG others(23): Show CGGGGCAGGTATGTACGGGGCAGGTATGTAG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp2 HG02486.hp2 others(4): Show HG01070.hp2 HG01109.hp2 HG02486.hp2 HG02809.hp1 HG03225.hp2 NA19030.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0006 a0002c0003t0013 others(1): Show a0001c0001t0001 a0002c0003t0006 a0002c0003t0013 a0002c0003t0016	a0001c0001t0001g0006 a0001c0001t0001g0053 a0001c0001t0001g0391 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0053 a0001c0001t0001g0391 a0002c0003t0006g0044 a0002c0003t0013g0390 a0002c0003t0016g0054	7	450	0.0156	-30	c.501 others(47): Show c.501+1080_501+1109delCTACATACCTGCCCCGTACATACCTGCC CC	RPL3L	ENSG00000140986.8	transcript	ENST00000268661.8	protein_coding	4/9			chr16	TogoVar
RPL3L_chr16_1938974_1959689	1949779	GGGGGCAG others(23): Show GGGGGCAGGTATGGACGGGGCAGGTATGGAC	G G	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	450	0.0022	-30	c.501 others(47): Show c.501+1035_501+1064delGTCCATACCTGCCCCGTCCATACCTGCC CC	RPL3L	ENSG00000140986.8	transcript	ENST00000268661.8	protein_coding	4/9			chr16	TogoVar
RPL3L_chr16_1938974_1959689	1949844	TAGGTATG others(23): Show TAGGTATGGACGGGGTAGGTATGTAGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG06807.hp1 HG02622.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0388 a0001c0001t0002g0176 a0001c0001t0001g0388 a0001c0001t0002g0176	2	450	0.0044	-30	c.501 others(45): Show c.501+970_501+999delGCCCCCTACATACCTACCCCGTCCATACCT	RPL3L	ENSG00000140986.8	transcript	ENST00000268661.8	protein_coding	4/9			chr16	TogoVar
RPL3L_chr16_1938974_1959689	1950110	GGGGCAGG others(23): Show GGGGCAGGTATGTAGGGGGCAGGTATGGACA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG02258.hp1 others(12): Show HG00639.hp2 HG01361.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp1 HG02717.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 NA18906.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004 a0013c0019	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0005t0024 a0002c0003t0012 a0002c0003t0013 a0003c0004t0009 a0013c0019t0028	a0001c0001t0001g0040 a0001c0001t0001g0252 a0001c0001t0001g0254 others(12): Show a0001c0001t0001g0040 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0358 a0001c0001t0002g0052 a0001c0001t0002g0262 a0001c0001t0002g0350 a0001c0002t0001g0398 a0001c0005t0024g0089 a0002c0003t0012g0251 a0002c0003t0013g0295 a0003c0004t0009g0180 a0013c0019t0028g0301	15	450	0.0333	-30	c.501 others(45): Show c.501+704_501+733delTGTCCATACCTGCCCCCTACATACCTGCCC	RPL3L	ENSG00000140986.8	transcript	ENST00000268661.8	protein_coding	4/9			chr16	TogoVar
RPL4_chr15_66493015_66509855	66509822	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG02451.hp1 HG02602.hp2 others(3): Show HG00099.hp2 HG02451.hp1 HG02602.hp2 HG02970.hp2 HG03942.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0016 a0001c0001t0001 a0001c0001t0005 a0001c0001t0016	a0001c0001t0001g0003 a0001c0001t0005g0008 a0001c0001t0016g0027 a0001c0001t0001g0003 a0001c0001t0005g0008 a0001c0001t0016g0027	6	428	0.0140	-30	c.-50 others(41): Show c.-5062_-5033delATATATATATATATATATATATATATATAT	RPL4	ENSG00000174444.15	transcript	ENST00000307961.11	protein_coding		4968		chr15	TogoVar
RPN1_chr3_128614969_128655818	128635612	GATATATA others(23): Show GATATATATATATATATATATATATATAGAT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG01346.hp2 others(12): Show HG01081.hp2 HG01106.hp2 HG01346.hp2 HG02145.hp1 HG02559.hp2 HG02615.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG03041.hp2 HG03195.hp1 HG03942.hp1 HG04184.hp2 HG04204.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0004 a0001c0002 a0001c0003 a0002c0004	a0001c0002t0006 a0001c0003t0001 a0002c0004t0006 others(1): Show a0001c0002t0006 a0001c0003t0001 a0002c0004t0006 a0002c0004t0015	a0001c0002t0006g0020 a0001c0003t0001g0015 a0001c0003t0001g0182 others(9): Show a0001c0002t0006g0020 a0001c0003t0001g0015 a0001c0003t0001g0182 a0001c0003t0001g0183 a0001c0003t0001g0188 a0001c0003t0001g0189 a0002c0004t0006g0291 a0002c0004t0006g0292 a0002c0004t0006g0294 a0002c0004t0006g0295 a0002c0004t0006g0296 a0002c0004t0015g0293	15	388	0.0387	-30	c.633 others(47): Show c.633+2157_633+2186delATCTATATATATATATATATATATATAT AT	RPN1	ENSG00000163902.12	transcript	ENST00000296255.8	protein_coding	3/9			chr3	TogoVar
RPS6KA5_chr14_90842861_91065641	91044362	AGAGAAAG others(23): Show AGAGAAAGAAAGAAGGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp1 HG02723.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0164 a0001c0001t0174 a0001c0001t0164 a0001c0001t0174	a0001c0001t0164g0051 a0001c0001t0174g0125 a0001c0001t0164g0051 a0001c0001t0174g0125	2	306	0.0065	-30	c.103 others(49): Show c.103+15940_103+15969delCTTCTTTCTTTCTTTCCTTCTTTCTT TCTC	RPS6KA5	ENSG00000100784.12	transcript	ENST00000614987.5	protein_coding	1/16			chr14	TogoVar
RPS6KA6_chrX_84053350_84193199	84151040	TATATATA others(23): Show TATATATAGAGGATAGATATATAGAGGATAG	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0247 a0001c0001t0013g0247	1	272	0.0037	-30	c.259 others(47): Show c.259-2947_259-2918delCTATCCTCTATATATCTATCCTCTATAT AT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding	3/21			chrX	TogoVar
RPS6KA6_chrX_84053350_84193199	84191547	CATATATA others(23): Show CATATATATATATCCATATATATATATCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0223 a0001c0001t0025g0223	1	272	0.0037	-30	c.-36 others(41): Show c.-3678_-3649delATGGATATATATATATGGATATATATATAT	RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding		3349		chrX	TogoVar
RPS6KB1_chr17_59888121_59955574	59906046	AGTTGTCC others(23): Show AGTTGTCCTAGCATCATTATTTGATTTGTAT	A A	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	304	0.0033	-30	c.142 others(47): Show c.142-4513_142-4484delTGTCCTAGCATCATTATTTGATTTGTAT GT	RPS6KB1	ENSG00000108443.14	transcript	ENST00000225577.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPS6KC1_chr1_213046241_213279774	213119425	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp2 HG03486.hp2 others(3): Show HG03041.hp1 HG03098.hp2 HG03486.hp2 NA18964.hp1 NA18995.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 others(3): Show a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0002g0116 a0001c0001t0002g0164 a0002c0002t0001g0262	6	330	0.0182	-30	c.472 others(47): Show c.472+2060_472+2089delATATATATATATATATATATATATATAT AT	RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
RPTOR_chr17_80539838_80971368	80591202	ATCTCCTC others(23): Show ATCTCCTCCCCTCTCCTCCCCTCTCCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG03209.hp2 others(4): Show HG02109.hp1 HG02145.hp2 HG03209.hp2 HG03486.hp1 HG03540.hp1 NA18522.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0001c0016 a0001c0047 others(3): Show a0001c0005 a0001c0016 a0001c0047 a0001c0048 a0001c0067 a0002c0062	a0001c0005t0026 a0001c0005t0067 a0001c0016t0029 others(4): Show a0001c0005t0026 a0001c0005t0067 a0001c0016t0029 a0001c0047t0012 a0001c0048t0073 a0001c0067t0068 a0002c0062t0018	a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0016t0029g0193 others(4): Show a0001c0005t0026g0109 a0001c0005t0067g0111 a0001c0016t0029g0193 a0001c0047t0012g0150 a0001c0048t0073g0144 a0001c0067t0068g0110 a0002c0062t0018g0191	7	196	0.0357	-30	c.163 others(49): Show c.163-34439_163-34410delCTCTCCTCCCCTCTCCTCCCCTCTCC TCCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	1/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80634664	TGTGTGCG others(23): Show TGTGTGCGTACTGTGTGTGCGTACTGTGTGC	T T	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0105 a0001c0002t0040g0105	1	196	0.0051	-30	c.265 others(47): Show c.265+8890_265+8919delCGTACTGTGTGCGTGTGCGTACTGTGTG TG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80943718	TTCAGGTG others(23): Show TTCAGGTGAGGACACGGTTAGTAAGAGCCAG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0081 a0001c0008t0081	a0001c0008t0081g0019 a0001c0008t0081g0019	1	196	0.0051	-30	c.302 others(49): Show c.3026-1858_3026-1829delTCAGGTGAGGACACGGTTAGTAAGAG CCAG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	25/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPUSD2_chr15_40564299_40579949	40579039	TATGGAGC others(23): Show TATGGAGCAGAAGTAGTGTAGGCGGGGAAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	-30	c.47 others(41): Show c.4779_*4808delATGGAGCAGAAGTAGTGTAGGCGGGGAAAG	RPUSD2	ENSG00000166133.18	transcript	ENST00000315616.12	protein_coding		4091		chr15	TogoVar
RRP1B_chr21_43654560_43701079	43696418	AGGGTGAG others(23): Show AGGGTGAGGCGGGCACAGGGAGGCTGCAGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01884.hp1 HG02055.hp1 others(6): Show HG00597.hp1 HG01884.hp1 HG02055.hp1 HG02738.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03130.hp2 HG03942.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0008 a0002c0002t0002 a0001c0001t0001 a0001c0005t0008 a0002c0002t0002	a0001c0001t0001g0030 a0001c0001t0001g0137 a0001c0005t0008g0186 others(5): Show a0001c0001t0001g0030 a0001c0001t0001g0137 a0001c0005t0008g0186 a0001c0005t0008g0187 a0001c0005t0008g0188 a0001c0005t0008g0265 a0002c0002t0002g0083 a0002c0002t0002g0084	9	372	0.0242	-30	c.30 others(41): Show c.3036_*3065delGGGTGAGGCGGGCACAGGGAGGCTGCAGCT	RRP1B	ENSG00000160208.13	transcript	ENST00000340648.6	protein_coding		340		chr21	TogoVar
RSF1_chr11_77655009_77825722	77671124	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0029 a0001c0002t0029	a0001c0002t0029g0017 a0001c0002t0029g0017	1	352	0.0028	-30	c.375 others(47): Show c.3751+888_3751+917delATATATATATATATATTTTTTTTTTTTT TT	RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15			chr11	TogoVar
RSPO2_chr8_107894316_108088620	108003291	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03490.hp2 HG03492.hp2 HG02738.hp1 HG03490.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162	3	240	0.0125	-30	c.95- others(47): Show c.95-14077_95-14048delAAAAAAAAAATATATATATATATATATA TA	RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	2/5			chr8	TogoVar
RSRC1_chr3_158105089_158550730	158399123	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	276	0.0036	-30	c.583 others(49): Show c.583+44235_583+44264delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTKN_chr2_74420835_74446937	74443617	GATAGATA others(23): Show GATAGATATAGATATAGATATAGATATAGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01884.hp2 HG03225.hp2 HG01256.hp2 HG01884.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0001t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0006g0044 a0001c0002t0001g0006 a0001c0001t0001g0002 a0001c0001t0006g0044 a0001c0002t0001g0006	3	382	0.0079	-30	c.-18 others(41): Show c.-1831_-1802delATCTATATCTATATCTATATCTATATCTAT	RTKN	ENSG00000114993.17	transcript	ENST00000272430.10	protein_coding		1681		chr2	TogoVar
RTL4_chrX_112078016_112462514	112082805	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02622.hp1 HG02717.hp1 others(4): Show HG02280.hp1 HG02622.hp1 HG02717.hp1 HG02922.hp1 HG03130.hp1 NA18522.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0002t0004 a0001c0002t0018 others(3): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0018 a0001c0002t0019 a0001c0003t0017 a0002c0001t0001	a0001c0002t0002g0017 a0001c0002t0004g0015 a0001c0002t0004g0018 others(4): Show a0001c0002t0002g0017 a0001c0002t0004g0015 a0001c0002t0004g0018 a0001c0002t0018g0126 a0001c0002t0019g0127 a0001c0003t0017g0125 a0002c0001t0001g0019	7	134	0.0522	-30	c.-87 others(39): Show c.-875_-846delAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding		210		chrX	TogoVar
RTL6_chr22_44487583_44503233	44492152	TGTGTGAG others(23): Show TGTGTGAGAGCCTCGGCCTGCGAGCTCTGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG01516.hp2 HG01517.hp2 others(14): Show HG00280.hp2 HG01516.hp2 HG01517.hp2 HG02015.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 NA18522.hp1 NA18942.hp2 NA18951.hp2 NA18953.hp1 NA18964.hp2 NA18978.hp1 NA19063.hp2 NA19068.hp1 NA19091.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0048 a0001c0001t0004 a0001c0001t0048	a0001c0001t0004g0004 a0001c0001t0048g0049 a0001c0001t0004g0004 a0001c0001t0048g0049	17	402	0.0423	-30	c.46 others(41): Show c.4655_*4684delTCCAGAGCTCGCAGGCCGAGGCTCTCACAC	RTL6	ENSG00000188636.4	transcript	ENST00000341255.4	protein_coding		430		chr22	TogoVar
RTL6_chr22_44487583_44503233	44492202	CGAGCTCT others(23): Show CGAGCTCTGGAGTGTGAGAGCCTCGGCCTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02572.hp1 HG02647.hp1 others(5): Show HG02055.hp2 HG02572.hp1 HG02647.hp1 HG02970.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0033 a0001c0001t0005 a0001c0001t0033	a0001c0001t0005g0005 a0001c0001t0033g0034 a0001c0001t0005g0005 a0001c0001t0033g0034	8	402	0.0199	-30	c.46 others(41): Show c.4605_*4634delACAGGCCGAGGCTCTCACACTCCAGAGCTC	RTL6	ENSG00000188636.4	transcript	ENST00000341255.4	protein_coding		380		chr22	TogoVar
RTN4RL1_chr17_1929677_2030334	1987718	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01069.hp2 others(36): Show HG00642.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01928.hp1 HG02015.hp2 HG02109.hp1 HG02132.hp2 HG02257.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02683.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG03017.hp1 HG03017.hp2 HG03942.hp1 HG04115.hp2 NA18747.hp2 NA18906.hp1 NA18951.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18974.hp1 NA18975.hp2 NA19004.hp1 NA19080.hp1 NA19084.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0021 a0001c0001t0050 a0001c0001t0051 a0001c0001t0088 a0001c0001t0095 a0001c0001t0100 a0001c0001t0101 a0001c0001t0122 a0001c0002t0004 a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 a0001c0002t0019 a0001c0002t0027 a0001c0002t0032 a0001c0002t0041 a0001c0002t0047 a0001c0002t0073 a0003c0005t0006	a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0273 others(36): Show a0001c0001t0001g0113 a0001c0001t0001g0124 a0001c0001t0001g0273 a0001c0001t0002g0186 a0001c0001t0002g0347 a0001c0001t0003g0016 a0001c0001t0003g0023 a0001c0001t0003g0216 a0001c0001t0003g0300 a0001c0001t0005g0135 a0001c0001t0006g0006 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0058 a0001c0001t0006g0067 a0001c0001t0006g0223 a0001c0001t0009g0226 a0001c0001t0011g0032 a0001c0001t0011g0042 a0001c0001t0021g0204 a0001c0001t0050g0100 a0001c0001t0051g0145 a0001c0001t0088g0150 a0001c0001t0095g0049 a0001c0001t0100g0022 a0001c0001t0101g0146 a0001c0001t0122g0320 a0001c0002t0004g0308 a0001c0002t0007g0068 a0001c0002t0010g0078 a0001c0002t0017g0376 a0001c0002t0019g0194 a0001c0002t0027g0060 a0001c0002t0032g0243 a0001c0002t0041g0164 a0001c0002t0047g0112 a0001c0002t0047g0372 a0001c0002t0073g0234 a0003c0005t0006g0017	39	384	0.1016	-30	c.13+ others(47): Show c.13+37105_13+37134delGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	RTN4RL1	ENSG00000185924.7	transcript	ENST00000331238.7	protein_coding	1/1			chr17	TogoVar
RUBCNL_chr13_46329681_46392252	46362923	CATATATA others(23): Show CATATATATATATATAGATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0022 a0001c0001t0032g0022	1	356	0.0028	-30	c.925 others(45): Show c.925+162_925+191delATATATATATATATCTATATATATATATAT	RUBCNL	ENSG00000102445.20	transcript	ENST00000429979.6	protein_coding	6/14			chr13	TogoVar
RUBCN_chr3_197663867_197741904	197679982	ACTGACAA others(23): Show ACTGACAACTGGCTTCAGATTGTCCTGTGCT	A A	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0100 a0001c0002t0048g0100	1	186	0.0054	-30	c.243 others(49): Show c.2430+1117_2430+1146delAGCACAGGACAATCTGAAGCCAGTTG TCAG	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	16/19			chr3	TogoVar
RUBCN_chr3_197663867_197741904	197680120	TCAGACTG others(23): Show TCAGACTGTCCTACGCTCTGACAACTGGCTC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	186	0.0054	-30	c.243 others(48): Show c.2430+979_2430+1008delGAGCCAGTTGTCAGAGCGTAGGACAGT CTG	RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	16/19			chr3	TogoVar
RUFY2_chr10_68338408_68412277	68376440	GTGTATAT others(23): Show GTGTATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02976.hp1 HG02559.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0267 a0001c0001t0012g0271 a0001c0001t0008g0267 a0001c0001t0012g0271	2	276	0.0073	-30	c.132 others(47): Show c.1325+383_1325+412delTATATATATATATATATATATATATATA CA	RUFY2	ENSG00000204130.14	transcript	ENST00000602465.6	protein_coding	13/17			chr10	TogoVar
RUNDC3B_chr7_87623398_87837296	87703885	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTGGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19083.hp1 HG00639.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0045 a0001c0001t0035 a0001c0001t0045	a0001c0001t0035g0035 a0001c0001t0045g0078 a0001c0001t0035g0035 a0001c0001t0045g0078	2	202	0.0099	-30	c.372 others(47): Show c.372+3357_372+3386delTTGGTTTTTTTTTTTTTTTTTTTTTTTT TT	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNX2_chr6_45323330_45556082	45554470	AAAAAAAA others(23): Show AAAAAAAAAAAAAGTACTGCCTTTATCCCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	178	0.0056	-30	c.71 others(41): Show c.7166_*7195delAAAAAAAAAAAAGTACTGCCTTTATCCCAC	RUNX2	ENSG00000124813.23	transcript	ENST00000647337.2	protein_coding		3389		chr6	TogoVar
RWDD4_chr4_183634635_183664185	183662986	AGTTTTCC others(23): Show AGTTTTCCCTTTTTCTCTCTTCTGTTTGTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0037 a0001c0004t0002g0037	1	480	0.0021	-30	c.-40 others(41): Show c.-4064_-4035delAAACAAACAGAAGAGAGAAAAAGGGAAAAC	RWDD4	ENSG00000182552.15	transcript	ENST00000326397.10	protein_coding		3802		chr4	TogoVar
RYR1_chr19_38428691_38592564	38502784	GGCAGGGG others(23): Show GGCAGGGGCAGGGGCAGGGGCAGGGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01099.hp2 HG01109.hp1 others(21): Show HG00609.hp1 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01256.hp1 HG01934.hp1 HG02056.hp1 HG02083.hp2 HG02148.hp1 HG02647.hp2 HG02683.hp2 HG02735.hp1 HG03041.hp2 HG03209.hp2 HG03669.hp1 HG03927.hp1 HG03942.hp2 HG04184.hp1 NA18522.hp1 NA18939.hp1 NA19030.hp2 NA19043.hp1 NA19068.hp2 NA20805.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0017 a0019 a0020	a0001c0001 a0001c0005 a0001c0033 others(13): Show a0001c0001 a0001c0005 a0001c0033 a0001c0065 a0001c0076 a0001c0095 a0002c0008 a0002c0012 a0002c0053 a0002c0079 a0003c0006 a0003c0051 a0004c0072 a0017c0041 a0019c0080 a0020c0081	a0001c0001t0001 a0001c0005t0001 a0001c0033t0001 others(13): Show a0001c0001t0001 a0001c0005t0001 a0001c0033t0001 a0001c0065t0001 a0001c0076t0001 a0001c0095t0001 a0002c0008t0001 a0002c0012t0001 a0002c0053t0001 a0002c0079t0001 a0003c0006t0001 a0003c0051t0003 a0004c0072t0001 a0017c0041t0001 a0019c0080t0001 a0020c0081t0001	a0001c0001t0001g0022 a0001c0005t0001g0154 a0001c0005t0001g0156 others(21): Show a0001c0001t0001g0022 a0001c0005t0001g0154 a0001c0005t0001g0156 a0001c0005t0001g0179 a0001c0033t0001g0158 a0001c0065t0001g0131 a0001c0076t0001g0164 a0001c0095t0001g0190 a0002c0008t0001g0172 a0002c0008t0001g0175 a0002c0012t0001g0168 a0002c0012t0001g0171 a0002c0053t0001g0106 a0002c0079t0001g0173 a0003c0006t0001g0045 a0003c0006t0001g0057 a0003c0006t0001g0114 a0003c0006t0001g0191 a0003c0006t0001g0193 a0003c0051t0003g0036 a0004c0072t0001g0125 a0017c0041t0001g0117 a0019c0080t0001g0142 a0020c0081t0001g0143	24	218	0.1101	-30	c.783 others(45): Show c.7835+74_7836-50delGGGCAGGGGGAGGAGCAGGGGCAGGGGCAG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR1_chr19_38428691_38592564	38590386	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 NA18939.hp1 HG00733.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0095 a0001c0001 a0001c0095	a0001c0001t0001 a0001c0095t0001 a0001c0001t0001 a0001c0095t0001	a0001c0001t0001g0012 a0001c0095t0001g0190 a0001c0001t0001g0012 a0001c0095t0001g0190	2	218	0.0092	-30	c.29 others(41): Show c.2967_*2996delAAAAAAAAATATATATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2823		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590388	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01123.hp1 HG01243.hp1 others(13): Show HG00621.hp2 HG01123.hp1 HG01243.hp1 HG01943.hp2 HG02155.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03041.hp2 HG03491.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18964.hp2 NA18980.hp2 NA20805.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0005 a0001c0023 a0001c0028 others(7): Show a0001c0005 a0001c0023 a0001c0028 a0001c0030 a0001c0036 a0001c0052 a0002c0008 a0002c0079 a0005c0016 a0005c0107	a0001c0005t0001 a0001c0023t0001 a0001c0028t0001 others(7): Show a0001c0005t0001 a0001c0023t0001 a0001c0028t0001 a0001c0030t0001 a0001c0036t0001 a0001c0052t0003 a0002c0008t0001 a0002c0079t0001 a0005c0016t0001 a0005c0107t0001	a0001c0005t0001g0154 a0001c0005t0001g0155 a0001c0005t0001g0156 others(13): Show a0001c0005t0001g0154 a0001c0005t0001g0155 a0001c0005t0001g0156 a0001c0023t0001g0109 a0001c0023t0001g0110 a0001c0028t0001g0182 a0001c0030t0001g0055 a0001c0036t0001g0111 a0001c0052t0003g0034 a0002c0008t0001g0163 a0002c0008t0001g0172 a0002c0008t0001g0175 a0002c0079t0001g0173 a0005c0016t0001g0122 a0005c0016t0001g0123 a0005c0107t0001g0042	16	218	0.0734	-30	c.29 others(41): Show c.2969_*2998delAAAAAAATATATATATATATATATATATAT	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding		2825		chr19	TogoVar
RYR2_chr1_237037184_237838988	237117671	CCTTCTCT others(23): Show CCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03098.hp1 HG02922.hp2 HG03098.hp1	a0001 a0001	a0001c0007 a0001c0011 a0001c0007 a0001c0011	a0001c0007t0016 a0001c0011t0044 a0001c0007t0016 a0001c0011t0044	a0001c0007t0016g0042 a0001c0011t0044g0054 a0001c0007t0016g0042 a0001c0011t0044g0054	2	100	0.0200	-30	c.48+ others(47): Show c.48+75160_48+75189delTCTCTTCTCTTCTCTTCTCTTCTCTTCT CT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237380359	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00741.hp1 HG02572.hp1 HG00408.hp2 HG00741.hp1 HG02572.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0038 a0003c0043 a0001c0005 a0002c0038 a0003c0043	a0001c0005t0011 a0002c0038t0043 a0003c0043t0002 a0001c0005t0011 a0002c0038t0043 a0003c0043t0002	a0001c0005t0011g0061 a0002c0038t0043g0096 a0003c0043t0002g0068 a0001c0005t0011g0061 a0002c0038t0043g0096 a0003c0043t0002g0068	3	100	0.0300	-30	c.576 others(47): Show c.576+2958_576+2987delTATATATATATATATATATATATATATA TA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	8/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237565137	TTCTTTTT others(23): Show TTCTTTTTCTTTCTTTCTTTCTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0078 a0001c0003t0001g0078	1	100	0.0100	-30	c.321 others(49): Show c.3215-1428_3215-1399delCTTTTTCTTTCTTTCTTTCTCTTTCT TTCT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	27/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237591159	TTCCCCCT others(23): Show TTCCCCCTTCTCCTCCTCCCCCTTCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00738.hp1 others(30): Show HG00280.hp1 HG00408.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01928.hp2 HG02055.hp1 HG02055.hp2 HG02293.hp2 HG02559.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03704.hp1 HG04228.hp1 HG04228.hp2 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0026 a0001c0028 a0001c0036 a0001c0041 a0001c0042 a0002c0031 a0002c0035 a0002c0039 a0003c0006 a0003c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(28): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0009 a0001c0002t0026 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0004t0002 a0001c0004t0004 a0001c0004t0020 a0001c0004t0030 a0001c0007t0019 a0001c0008t0028 a0001c0011t0004 a0001c0026t0004 a0001c0028t0007 a0001c0036t0003 a0001c0041t0006 a0001c0042t0017 a0002c0031t0025 a0002c0035t0021 a0002c0039t0036 a0003c0006t0004 a0003c0013t0001 a0003c0013t0003	a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0003g0089 others(30): Show a0001c0001t0001g0012 a0001c0001t0001g0099 a0001c0001t0003g0089 a0001c0001t0003g0100 a0001c0001t0006g0025 a0001c0001t0015g0069 a0001c0002t0001g0075 a0001c0002t0002g0076 a0001c0002t0009g0021 a0001c0002t0026g0059 a0001c0003t0001g0063 a0001c0003t0002g0065 a0001c0003t0003g0046 a0001c0003t0004g0060 a0001c0003t0005g0018 a0001c0004t0002g0092 a0001c0004t0004g0009 a0001c0004t0020g0093 a0001c0004t0030g0005 a0001c0007t0019g0057 a0001c0008t0028g0039 a0001c0011t0004g0064 a0001c0026t0004g0055 a0001c0028t0007g0062 a0001c0036t0003g0038 a0001c0041t0006g0027 a0001c0042t0017g0050 a0002c0031t0025g0056 a0002c0035t0021g0010 a0002c0039t0036g0030 a0003c0006t0004g0088 a0003c0013t0001g0091 a0003c0013t0003g0086	33	100	0.3300	-30	c.416 others(47): Show c.4160+216_4160+245delCCCTTCTCCTCCTCCCCCTTCTCCTCCT CC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	31/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237789505	CCATGGCT others(23): Show CCATGGCTGCAGGTATAGTTCTATTATAGGT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG01243.hp2 others(16): Show HG01099.hp2 HG01175.hp1 HG01243.hp2 HG01981.hp1 HG02055.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG03098.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG04228.hp1 NA18522.hp2 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0015 a0001c0019 a0001c0026 a0001c0028 a0001c0029 a0001c0037 a0001c0042 a0001c0045	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0031 a0001c0004t0004 a0001c0004t0030 a0001c0007t0019 a0001c0008t0042 a0001c0011t0004 a0001c0011t0044 a0001c0015t0006 a0001c0019t0022 a0001c0026t0004 a0001c0028t0007 a0001c0029t0008 a0001c0037t0010 a0001c0042t0017 a0001c0045t0001	a0001c0001t0001g0099 a0001c0001t0004g0036 a0001c0002t0001g0070 others(16): Show a0001c0001t0001g0099 a0001c0001t0004g0036 a0001c0002t0001g0070 a0001c0002t0003g0052 a0001c0002t0031g0033 a0001c0004t0004g0009 a0001c0004t0030g0005 a0001c0007t0019g0057 a0001c0008t0042g0002 a0001c0011t0004g0064 a0001c0011t0044g0054 a0001c0015t0006g0034 a0001c0019t0022g0035 a0001c0026t0004g0055 a0001c0028t0007g0062 a0001c0029t0008g0090 a0001c0037t0010g0037 a0001c0042t0017g0050 a0001c0045t0001g0073	19	100	0.1900	-30	c.134 others(51): Show c.13476+1431_13476+1460delCATGGCTGCAGGTATAGTTCTATT ATAGGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	92/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237792368	TGTGTGTG others(23): Show TGTGTGTGTGTGTGCGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0005 a0001c0030t0005	a0001c0030t0005g0053 a0001c0030t0005g0053	1	100	0.0100	-30	c.137 others(47): Show c.13782+59_13782+88delCGTGTGTGTGTGTGTGCGTGTGTGTGTG TG	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	94/104		INFO_REALIGN_3_PRIME	chr1	TogoVar

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