Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTPRD_chr9_8309246_10618002	10438010	T T	TATATATA others(97): Show TATATATATTATATATATATATAATATATATATATATATTATATATATAT ATAATATATATATATTATATATATATAATAAATATATATATTATATATAT ATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp2 NA21309.hp1 HG01109.hp2 HG01243.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0015 a0001c0003t0023 a0001c0002t0003 a0001c0002t0015 a0001c0003t0023	a0001c0002t0003g0024 a0001c0002t0015g0010 a0001c0003t0023g0031 a0001c0002t0003g0024 a0001c0002t0015g0010 a0001c0003t0023g0031	3	34	0.0882	104	c.-59 others(125): Show c.-599-96994_-599-96993insTATATATATATATAATATATATAT TTATTATATATATATAATATATATATATTATATATATATATAATATATAT ATATATATTATATATATATATAATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PWWP2B_chr10_132392200_132422859	132403992	T T	TAGGACGG others(97): Show TAGGACGGCATTCTCCAGGGCTCCTGCAGGACGGCATTCTCCAGGGCTCC TGCAGGACGGCATTCTCCAGGGCTCCTGCAGGACGGCATTCTCCAGGGCT CCTGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0164 a0003c0005t0001g0164	1	374	0.0027	104	c.126 others(119): Show c.126-543_126-542insCCAGGGCTCCTGCAGGACGGCATTCTCCAG GGCTCCTGCAGGACGGCATTCTCCAGGGCTCCTGCAGGACGGCATTCTCC AGGGCTCCTGCAGGACGGCATTCT	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
QSOX2_chr9_136201333_136250812	136237524	A A	ACACCTGG others(97): Show ACACCTGGAGCCCGTCCTGTGCCGGCGACACCTGGAGCCCGTCCTGTGCC GGCGACACCTGGAGCCCGTCCTGTGCCACACCTGGAGCCCGTCCTGTGCC GGCGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0013 a0001c0017t0013	a0001c0017t0013g0180 a0001c0017t0013g0180	1	392	0.0026	104	c.328 others(121): Show c.328+7951_328+7952insACGCCGGCACAGGACGGGCTCCAGGTGT GGCACAGGACGGGCTCCAGGTGTCGCCGGCACAGGACGGGCTCCAGGTGT CGCCGGCACAGGACGGGCTCCAGGTG	QSOX2	ENSG00000165661.18	transcript	ENST00000358701.10	protein_coding	1/11			chr9	TogoVar
RAB11FIP3_chr16_420649_528011	504509	A A	ACCCCCCT others(97): Show ACCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTC ACCTCTTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCC TGTAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0136 a0001c0001t0015g0136	1	295	0.0034	104	c.139 others(123): Show c.1396-1010_1396-1009insCTCACCTCCTCCTGTACCCCCCTCAC CTCCTCCTGTACCCCCTCACCTCTTCCTGTACCCCCTCACCTCCTCCTGT ACCCCCCTCACCTCCTCCTGTACCCCCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58756321	A A	ATATATAT others(97): Show ATATATATATATATAACATATATATGTTATATATATATATAACATATATA TGTTATATATATATATAACATATATATGTTATATATATATATAACATATA TATGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0099 a0001c0001t0043g0099	1	220	0.0046	104	c.371 others(123): Show c.371+30251_371+30252insGTTATATATATATATAACATATATAT GTTATATATATATATAACATATATATGTTATATATATATATAACATATAT ATGTTATATATATATATAACATATATAT	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377540	T T	TATATATA others(97): Show TATATATATATGCATATATATATGTATACATATATATGCATATATATGTA TACATATATATATGCATATATATGTATACATATATATATGCATATATATG TATAC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	359	0.0028	104	c.351 others(121): Show c.351+2837_351+2838insATGCATATATATATGTATACATATATAT GCATATATATGTATACATATATATATGCATATATATGTATACATATATAT ATGCATATATATGTATACATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377586	C C	CATATATA others(97): Show CATATATATATGCATATATATGTATACATATATATATGCATATATATGTA TACATATATATGCATATATATGTATACATATATATGCATATATATATGTA TACAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00621.hp1 others(18): Show HG00323.hp1 HG00423.hp2 HG00621.hp1 HG01071.hp1 HG01106.hp2 HG01496.hp1 HG02056.hp1 HG02071.hp2 HG02165.hp1 HG02523.hp1 HG02698.hp2 NA18612.hp2 NA18944.hp2 NA18949.hp1 NA18977.hp1 NA18985.hp1 NA18987.hp1 NA18997.hp1 NA19081.hp2 NA19089.hp1 NA20805.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0007c0006t0004 a0001c0001t0001 a0007c0006t0004	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 others(18): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0048 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0254 a0001c0001t0001g0263 a0001c0001t0001g0264 a0007c0006t0004g0080	21	359	0.0585	104	c.351 others(121): Show c.351+2895_351+2896insGTATACATATATATATGCATATATATGT ATACATATATATGCATATATATGTATACATATATATGCATATATATATGT ATACATATATATATATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377593	A A	ATATGCAT others(97): Show ATATGCATATATATGTATACATATATATATGCATATATATGTATACATAT ATATGCATATATATGTATACATATATATGCATATATATATGTATACATAT ATATG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	359	0.0028	104	c.351 others(121): Show c.351+2895_351+2896insGTATACATATATATATGCATATATATGT ATACATATATATGCATATATATGTATACATATATATGCATATATATATGT ATACATATATATGTATGCATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377614	C C	CATATATA others(97): Show CATATATATATGCATATATATGTATACATATATATGCATATATATGCATA TATATATGTATACATATATATATATGCATATATATATGTATACATATATA TGCAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	359	0.0028	104	c.351 others(121): Show c.351+2911_351+2912insATGCATATATATGTATACATATATATGC ATATATATGCATATATATATGTATACATATATATATATGCATATATATAT GTATACATATATATGCATATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD17_chr5_69364818_69419801	69377624	C C	CATATATA others(97): Show CATATATATGTATACATATATATGCATATATATATGTATACATATATATA TGCATATATATATGCATATATATATGTATACATATATATGCATATATATA TGCAT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18997.hp2 NA19078.hp1 others(1): Show NA18960.hp2 NA18997.hp2 NA19078.hp1 NA19085.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0011 a0001c0001 a0010c0011	a0001c0001t0002 a0010c0011t0002 a0001c0001t0002 a0010c0011t0002	a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 others(1): Show a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0010c0011t0002g0352	4	359	0.0111	104	c.351 others(121): Show c.351+2935_351+2936insGCATATATATATGTATACATATATATAT GCATATATATATGCATATATATATGTATACATATATATGCATATATATAT GCATATATATATGTATACATATATAT	RAD17	ENSG00000152942.19	transcript	ENST00000354868.10	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD51C_chr17_58687602_58740611	58726561	C C	CATATGTA others(97): Show CATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATATG TGTATACGTATAGATGTATATACATATGTATATATGTGTATACATATAGA TGTAT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0300 a0001c0001t0003g0300	1	330	0.0030	104	c.965 others(121): Show c.965+2481_965+2482insGTATAGATGTATATACATATGTATATAT GTGTATACGTATAGATGTATATACATATGTATATATGTGTATACATATAG ATGTATATATGTATATATGTGTATAC	RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(97): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGAGGGGGTGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGTGGGG GAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	400	0.0025	104	c.-34 others(115): Show c.-3413_-3412insCCCTCCCCCACCCCCTCCCCCCTCCCCCCTCCCC CCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCTCCCTTCCCCCCTCCC CCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAE1_chr20_57346255_57384202	57350920	G G	GGGGGGGG others(97): Show GGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGCGGGGGGGGCGGGGGGA CGGGGGCGGGGGGGCGGGGGGGGCGGGGGGACGGGGGCGGGGGGCGCGGG GGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	342	0.0029	104	c.-51 others(113): Show c.-510_-509insGGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGCGGG GGGGGCGGGGGGACGGGGGCGGGGGGGCGGGGGGGGCGGGGGGACGGGGG CGGGGGGCGCGGGGGGGC	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		334		chr20	TogoVar
RALGAPA2_chr20_20384530_20717644	20458824	A A	ATATATAT others(97): Show ATATATATATAGACCTATATATATATAGACCTATATATATAGACCTATAT ATATATAGACCTATATATATAGACCTATATATATAGACCTATATATATAT AGACC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02970.hp2 HG02258.hp2 HG02970.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0036 a0001c0007t0037 a0001c0007t0036 a0001c0007t0037	a0001c0007t0036g0086 a0001c0007t0037g0085 a0001c0007t0036g0086 a0001c0007t0037g0085	2	122	0.0164	104	c.549 others(125): Show c.5495+14004_5495+14005insGGTCTATATATATATAGGTCTATA TATATAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATA GGTCTATATATATATAGGTCTATATATATA	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39			chr20	TogoVar
RALGPS1_chr9_126909782_127228166	127182388	C C	CCCTCCCT others(97): Show CCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03471.hp1 HG02965.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0104 a0001c0001t0005g0120 a0001c0001t0005g0104 a0001c0001t0005g0120	2	276	0.0073	104	c.910 others(121): Show c.910+7617_910+7618insCCCTTCCTTCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTCCCTCCCT	RALGPS1	ENSG00000136828.19	transcript	ENST00000259351.10	protein_coding	11/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(97): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0263 a0001c0002t0001g0263	1	372	0.0027	104	c.-14 others(123): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTATATATATATATATATATATATATAT ATATATATATATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RAP1GAP_chr1_21591221_21674357	21660352	T T	TATATATA others(97): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	372	0.0027	104	c.-14 others(123): Show c.-149+8901_-149+8902insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATAT	RAP1GAP	ENSG00000076864.21	transcript	ENST00000374765.9	protein_coding	1/24			chr1	TogoVar
RBBP6_chr16_24534566_24577863	24575771	G G	GAGGGAGG others(97): Show GAGGGAGGAGAGGGAGGAGGGGGAGAGGGAGAGGGAGGAGAGGGAGGAGA GGGAGAGGGAGAGGGAGGAGGGAGAGAGGGAGGAGAGGGAGGAGAGGGAG AGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19090.hp1 NA19000.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0015 a0001c0001 a0004c0015	a0001c0001t0001 a0004c0015t0001 a0001c0001t0001 a0004c0015t0001	a0001c0001t0001g0105 a0004c0015t0001g0121 a0001c0001t0001g0105 a0004c0015t0001g0121	2	336	0.0060	104	c.33 others(115): Show c.3326_*3327insAGGGAGGAGAGGGAGGAGGGGGAGAGGGAGAGGG AGGAGAGGGAGGAGAGGGAGAGGGAGAGGGAGGAGGGAGAGAGGGAGGAG AGGGAGGAGAGGGAGAGGGA	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		2909		chr16	TogoVar
RBBP8NL_chr20_62405237_62432539	62406703	A A	ACCTCTGT others(97): Show ACCTCTGTCCAGGGCTGACAAGGCCCCAGGTGAACCCAACCCCTTTGTCC TGGCCTCTGTCCAGGGCTGACAAGGCCCCAGGTGAACCCAACCCCTTTGT CCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0114 a0007c0007t0002g0114	1	432	0.0023	104	c.41 others(115): Show c.4174_*4175insCCAGGACAAAGGGGTTGGGTTCACCTGGGGCCTT GTCAGCCCTGGACAGAGGCCAGGACAAAGGGGTTGGGTTCACCTGGGGCC TTGTCAGCCCTGGACAGAGG	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding		3533		chr20	TogoVar
RBFOX1_chr16_6014024_7718340	6439972	T T	TTCTTTCT others(97): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTGTTTTTGTTTTTTGA GCTGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0055 a0001c0001t0019g0055	1	68	0.0147	104	c.-64 others(125): Show c.-64+122915_-64+122916insTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCT TTCTTTTTTTGTTTTTGTTTTTTGAGCTGG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	2/15			chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7683010	G G	GTGTATAT others(97): Show GTGTATATATACACACACACACATATATACGTATATATATGTGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTGTGTGTGTGT ATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	68	0.0147	104	c.995 others(121): Show c.995+6173_995+6174insGTATATATACACACACACACATATATAC GTATATATATGTGTGTGTGTATATATACACACACACATATATACGTATAT ATGTGTGTGTGTGTGTGTGTATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTATATAT others(97): Show GTATATATACACACACACATATATACGTATATATATGTGTGTGTGTATAT ATACACACACACATATATACGTATATATGTGTGTGTGTGTGTGTATATAT ATATA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0055 a0001c0003t0055	a0001c0003t0055g0020 a0001c0003t0055g0020	1	234	0.0043	104	c.105 others(123): Show c.1058+6180_1058+6181insCACACACACATATATACGTATATATA TGTGTGTGTGTATATATACACACACACATATATACGTATATATGTGTGTG TGTGTGTGTATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTATATAT others(97): Show GTATATATACACACACACATATATACGTATATATATGTGTGTGTGTATAT ATACACACACACATATATATACGTATATATGTGTGTGTGTATATATATAT ATATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0007 a0001c0031t0007	a0001c0031t0007g0133 a0001c0031t0007g0133	1	234	0.0043	104	c.105 others(123): Show c.1058+6180_1058+6181insCACACACACATATATACGTATATATA TGTGTGTGTGTATATATACACACACACATATATATACGTATATATGTGTG TGTGTATATATATATATATATATATATA	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(97): Show GTGTATATATACACACACACACATATATACGTATATATATGTGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTGTGTGTGTGT ATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03041.hp1 HG02976.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0017 a0001c0006t0002 a0001c0001t0017 a0001c0006t0002	a0001c0001t0017g0063 a0001c0006t0002g0033 a0001c0001t0017g0063 a0001c0006t0002g0033	2	234	0.0086	104	c.105 others(123): Show c.1058+6173_1058+6174insGTATATATACACACACACACATATAT ACGTATATATATGTGTGTGTGTATATATACACACACACATATATACGTAT ATATGTGTGTGTGTGTGTGTGTATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(97): Show GTGTATATATACACACACACACATATATACGTATATATATGTGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTGTGTGTGTGT GTGTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0035 a0001c0002t0035	a0001c0002t0035g0234 a0001c0002t0035g0234	1	234	0.0043	104	c.105 others(123): Show c.1058+6173_1058+6174insGTATATATACACACACACACATATAT ACGTATATATATGTGTGTGTGTATATATACACACACACATATATACGTAT ATATGTGTGTGTGTGTGTGTGTGTGTAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7683010	G G	GTGTATAT others(97): Show GTGTATATATACACACACACACATATATACGTATATATGTGTGTGTGTGT ATATATACACACACACATATATACGTATATATGTGTGTGTATATATATAT ATATA	intron_variant intron_variant	MODIFIER	HG02004.hp1 NA18969.hp1 HG02004.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0045 a0001c0002t0002 a0001c0004t0045	a0001c0002t0002g0191 a0001c0004t0045g0138 a0001c0002t0002g0191 a0001c0004t0045g0138	2	234	0.0086	104	c.105 others(123): Show c.1058+6173_1058+6174insGTATATATACACACACACACATATAT ACGTATATATGTGTGTGTGTGTATATATACACACACACATATATACGTAT ATATGTGTGTGTATATATATATATATAT	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATA others(97): Show TATATATATTCATATATATATATTCATAATATATATTCATATATATATAT TCATAATATATATTCATATATATATTCATAATATATATTCATATATATAT TCATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA20905.hp1 HG03942.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0080 a0001c0001t0003g0118 a0001c0001t0003g0080 a0001c0001t0003g0118	2	406	0.0049	104	c.657 others(121): Show c.657+2898_657+2899insTATGAATATATATATGAATATATATTAT GAATATATATATGAATATATATTATGAATATATATATATGAATATATATT ATGAATATATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATA others(97): Show TATATATATTCATATATATATTCATAATATATATATTCATATATATATTC ATAATATATATTCATATATATATATTCATAATATATATTCATATATATAT TCATA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18989.hp1 NA18994.hp1 others(3): Show NA18947.hp1 NA18989.hp1 NA18994.hp1 NA19002.hp1 NA19012.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0274 others(3): Show a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0008g0091	6	406	0.0148	104	c.657 others(121): Show c.657+2898_657+2899insTATGAATATATATATGAATATATATTAT GAATATATATATATGAATATATATTATGAATATATATATGAATATATATA TTATGAATATATATATGAATATATAT	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
REPS2_chrX_16941658_17158272	17050133	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	166	0.0060	104	c.908 others(121): Show c.908-2246_908-2245insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	166	0.0060	104	c.908 others(121): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTT TCTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	166	0.0060	104	c.908 others(121): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTTCTTTCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	166	0.0060	104	c.908 others(121): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTCCTTCCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(97): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	166	0.0060	104	c.908 others(121): Show c.908-2238_908-2237insCCTTCCTTCCTTCCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(97): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATGCATACATATG TATGTGTATGCATACATATGTATGTGTATGCATACATATGTATGTGTATG CATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	104	c.-23 others(115): Show c.-2310_-2309insGTATGCATACACATACATATGTATGCATACACAT ACATATGTATGCATACACATACATATGTATGCATACACATACATATGTAT GCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759526	T T	TGTGTATA others(97): Show TGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATG TGTATACATACGTATGTATGTATGTGTATACATACGTATGTGTATACATA CATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	104	c.-23 others(115): Show c.-2342_-2341insGTATGTATGTATACACATACGTATGTATACACAT ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGTATACAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2117		chr3	TogoVar
RFC1_chr4_39282456_39371362	39348432	A A	AAGAAAAG others(97): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG AGAAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	276	0.0036	104	c.132 others(121): Show c.132+2915_132+2916insCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RGPD2_chr2_87750960_87830796	87824742	G G	GGCCGCCG others(97): Show GGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCCGGCCAGGCCGAGGCCGCC GCCGCCGCCGCCGCCGCCGCCGCCCGGCCAGGCCGAGGCCGCCGCCGCCG CCGCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0009 a0007c0011t0009	a0007c0011t0009g0037 a0007c0011t0009g0037	1	176	0.0057	104	c.72+ others(117): Show c.72+915_72+916insGGCGGCGGCGGCGGCGGCCTCGGCCTGGCCGG GCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCTGGCCGGGCGGCGG CGGCGGCGGCGGCGGCGGCGGC	RGPD2	ENSG00000185304.16	transcript	ENST00000398146.5	protein_coding	1/22			chr2	TogoVar
RGS12_chr4_3288021_3444913	3341671	G G	GGATGGTG others(97): Show GGATGGTGGAGAGTTGGGGGTGTGGGGGGAGGGAGGGTGGAGAGATGGGG GTGTGGGCGGAGGGGAGGGTGGAGAGATGAGGGTGTGGGGGGAGGGGAGG GTGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 NA19043.hp2 HG06807.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0269 a0001c0004t0001g0268 a0001c0002t0001g0269 a0001c0004t0001g0268	2	312	0.0064	104	c.188 others(123): Show c.1882-1264_1882-1263insTGGTGGAGAGTTGGGGGTGTGGGGGG AGGGAGGGTGGAGAGATGGGGGTGTGGGCGGAGGGGAGGGTGGAGAGATG AGGGTGTGGGGGGAGGGGAGGGTGGAGA	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3426234	G G	GGGGCCAG others(97): Show GGGGCCAGTGCAGGGGAGGGGGCTGTGGGGTTGGCATAGGGGAGGGGGCG AGTGGGGCCAGTGCAGGGGAGGGGCTGTGGGGTTGGCATAGGGGAGGGGG CGAGT	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0162 a0002c0029t0001g0162	1	312	0.0032	104	c.333 others(121): Show c.3331+717_3331+718insGGGGCGAGTGGGGCCAGTGCAGGGGAGG GGCTGTGGGGTTGGCATAGGGGAGGGGGCGAGTGGGCCAGTGCAGGGGAG GGGGCTGTGGGGTTGGCATAGGGGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS19_chr20_64068181_64084518	64078177	C C	CCCAATAC others(97): Show CCCAATACCCCCGAGGCCTGGGCATGCAGAGGCCACTGCCCTGGCCCAAG TCTGGGGCAGGTGCAGCATCCCCTGGGACCTTGGCCCCTCACCACCAGCC CAGTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	390	0.0026	104	c.-69 others(121): Show c.-69+1116_-69+1117insAACTGGGCTGGTGGTGAGGGGCCAAGGT CCCAGGGGATGCTGCACCTGCCCCAGACTTGGGCCAGGGCAGTGGCCTCT GCATGCCCAGGCCTCGGGGGTATTGG	RGS19	ENSG00000171700.14	transcript	ENST00000395042.2	protein_coding	1/5			chr20	TogoVar
RGS19_chr20_64068181_64084518	64078177	C C	CCCAATAC others(97): Show CCCAATACCCCCGAGGCCTGGGCATGCAGAGGCCACTGCCCTGGCCCAAG TCTGGGGCAGGTGCAGCATCCCCTGGGACCTTGGCCCCTCACCACCGGCC CAGTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(284): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18961.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0002t0002 a0002c0004t0002 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(47): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0041 a0001c0001t0002g0075 a0001c0001t0003g0018 a0001c0001t0006g0023 a0001c0001t0010g0062 a0001c0001t0011g0048 a0001c0002t0002g0036 a0002c0004t0002g0040 a0003c0003t0001g0052	287	390	0.7359	104	c.-69 others(121): Show c.-69+1013_-69+1116dupAACTGGGCCGGTGGTGAGGGGCCAAGGT CCCAGGGGATGCTGCACCTGCCCCAGACTTGGGCCAGGGCAGTGGCCTCT GCATGCCCAGGCCTCGGGGGTATTGG	RGS19	ENSG00000171700.14	transcript	ENST00000395042.2	protein_coding	1/5			chr20	TogoVar
RGS19_chr20_64068181_64084518	64078188	C C	CGAGGCCT others(97): Show CGAGGCCTGGGCATGCAGAGGCCACTGCCCTGGCCCAAGTCTGGGGCAGG TGCAGCATCCCCTGGGACCTTGGCCCCTCACCACCGGCCCAGTTCCAATA CCCCT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18961.hp2 NA18943.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	2	390	0.0051	104	c.-69 others(121): Show c.-69+1105_-69+1106insAGGGGTATTGGAACTGGGCCGGTGGTGA GGGGCCAAGGTCCCAGGGGATGCTGCACCTGCCCCAGACTTGGGCCAGGG CAGTGGCCTCTGCATGCCCAGGCCTC	RGS19	ENSG00000171700.14	transcript	ENST00000395042.2	protein_coding	1/5			chr20	TogoVar
RHOB_chr2_20442074_20454440	20446087	A A	AATAGTGT others(97): Show AATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTA TTGTACATTCTATTGTACAATAGTGTATATTCTATTGTACATTCTATTGT ACAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01123.hp1 HG01192.hp2 others(2): Show HG01106.hp2 HG01123.hp1 HG01192.hp2 HG01952.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	5	368	0.0136	104	c.-13 others(115): Show c.-1379_-1378insATAGTGTATATTCTATTGTACATTCTATTGTACA ATAGTGTATATTCTATTGTACATTCTATTGTACAATAGTGTATATTCTAT TGTACATTCTATTGTACAAT	RHOB	ENSG00000143878.10	transcript	ENST00000272233.6	protein_coding		986		chr2	TogoVar
RIMS4_chr20_44746808_44815546	44764047	T T	TATCCATC others(97): Show TATCCATCCATCCATCCATCCATCCACCCATCCATCCGTCCATCCATTTA TCCATCCATCCATCCATCCATTTATCCATCCATTTATCCATCCATCCATC CATCC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01123.hp2 others(25): Show HG00423.hp2 HG00597.hp1 HG01123.hp2 HG01346.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp2 HG02129.hp1 HG02258.hp1 HG02523.hp2 HG02559.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02965.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp2 HG03654.hp1 HG03710.hp2 HG03834.hp1 NA18944.hp2 NA18990.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0036 a0001c0001t0041 a0001c0001t0052 a0001c0001t0061 a0001c0001t0077 a0001c0001t0079 a0001c0001t0081 a0001c0001t0084 a0001c0001t0085	a0001c0001t0001g0126 a0001c0001t0001g0183 a0001c0001t0001g0271 others(20): Show a0001c0001t0001g0126 a0001c0001t0001g0183 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0025 a0001c0001t0006g0011 a0001c0001t0006g0305 a0001c0001t0006g0308 a0001c0001t0006g0311 a0001c0001t0018g0023 a0001c0001t0021g0304 a0001c0001t0022g0037 a0001c0001t0022g0314 a0001c0001t0036g0294 a0001c0001t0036g0297 a0001c0001t0041g0040 a0001c0001t0052g0185 a0001c0001t0061g0127 a0001c0001t0077g0298 a0001c0001t0079g0293 a0001c0001t0081g0317 a0001c0001t0084g0315 a0001c0001t0085g0318	28	382	0.0733	104	c.237 others(121): Show c.237-5864_237-5863insGGATGGATGGATGGATGGATAAATGGAT GGATAAATGGATGGATGGATGGATGGATAAATGGATGGACGGATGGATGG GTGGATGGATGGATGGATGGATGGAT	RIMS4	ENSG00000101098.13	transcript	ENST00000372851.8	protein_coding	2/5			chr20	TogoVar
RIN3_chr14_92508781_92693994	92640424	A A	ATTTGCTG others(97): Show ATTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGT GCGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACT GTGCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG00621.hp1 others(53): Show HG00099.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00738.hp2 HG01099.hp2 HG01361.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02280.hp1 HG02630.hp2 HG02717.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03942.hp2 NA18747.hp2 NA18939.hp2 NA18944.hp1 NA18946.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp1 NA18995.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19067.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA20300.hp1 NA20300.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0008 a0015 a0016 a0026	a0001c0001 a0001c0013 a0003c0003 others(10): Show a0001c0001 a0001c0013 a0003c0003 a0004c0004 a0004c0023 a0004c0058 a0005c0006 a0005c0047 a0005c0054 a0008c0053 a0015c0021 a0016c0022 a0026c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0013t0001 a0001c0013t0007 a0003c0003t0001 a0004c0004t0001 a0004c0004t0002 a0004c0023t0001 a0004c0058t0001 a0005c0006t0001 a0005c0047t0001 a0005c0054t0001 a0008c0053t0001 a0015c0021t0001 a0016c0022t0001 a0026c0034t0002	a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0045 others(53): Show a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0254 a0001c0001t0001g0272 a0001c0001t0001g0319 a0001c0001t0001g0325 a0001c0001t0002g0054 a0001c0001t0002g0156 a0001c0001t0002g0312 a0001c0001t0003g0066 a0001c0001t0003g0080 a0001c0001t0003g0307 a0001c0013t0001g0293 a0001c0013t0001g0295 a0001c0013t0001g0318 a0001c0013t0007g0143 a0003c0003t0001g0192 a0004c0004t0001g0037 a0004c0004t0001g0118 a0004c0004t0001g0155 a0004c0004t0001g0244 a0004c0004t0001g0256 a0004c0004t0001g0257 a0004c0004t0002g0157 a0004c0004t0002g0247 a0004c0023t0001g0172 a0004c0058t0001g0098 a0005c0006t0001g0033 a0005c0047t0001g0051 a0005c0054t0001g0202 a0008c0053t0001g0200 a0015c0021t0001g0227 a0015c0021t0001g0324 a0016c0022t0001g0306 a0026c0034t0002g0220	56	334	0.1677	104	c.441 others(119): Show c.441-631_441-528dupTTCATCGGGGGCTGCCTGACTGTGCGTTTG CTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGTGCGTT TGCTGGGAGATGCCTGACTGTGTG	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92640613	G G	GGGGGCTG others(97): Show GGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTTCA TCGGGGGCTGCCTGACTGTGCGTTTGCTGGGAGATGCCTGACTGTGTGTT CATCA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0018 a0018	a0018c0041 a0018c0041	a0018c0041t0001 a0018c0041t0001	a0018c0041t0001g0255 a0018c0041t0001g0255	1	334	0.0030	104	c.441 others(119): Show c.441-528_441-527insTTCATCAGGGGCTGCCTGACTGTGCGTTTG CTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGCCTGACTGTGCGTT TGCTGGGAGATGCCTGACTGTGTG	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIPK4_chr21_41734373_41772052	41736061	T T	TCTTCTTC others(97): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0002 a0001c0031t0002	a0001c0031t0002g0182 a0001c0031t0002g0182	1	448	0.0022	104	c.47 others(115): Show c.4776_*4777insGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3311		chr21	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	ATATATAT others(97): Show ATATATATATTTTTAATATATATATTTTTAAATATATATATATTTATATA TATATTTTTATATATATATATTTATATATATATTTTTAAATATATATATA TATTT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	408	0.0025	104	c.182 others(121): Show c.182-2718_182-2717insTATATATATTTTTAATATATATATTTTT AAATATATATATATTTATATATATATTTTTATATATATATATTTATATAT ATATTTTTAAATATATATATATATTT	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1			chr8	TogoVar
RNF17_chr13_24759169_24884921	24882005	G G	GATACATC others(97): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	426	0.0024	104	c.22 others(115): Show c.2279_*2280insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2085		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882089	T T	TATAGATA others(97): Show TATAGATATATAGATACATCTAGATATATAGATACATCTAGATATATAGA TACATCTATATAGATACATCTATATAGATACATCTATATAGATACATCTA TATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18954.hp2 NA19007.hp2 NA18942.hp2 NA18954.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0297 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0297	3	426	0.0070	104	c.23 others(115): Show c.2363_*2364insATAGATATATAGATACATCTAGATATATAGATAC ATCTAGATATATAGATACATCTATATAGATACATCTATATAGATACATCT ATATAGATACATCTATATAG	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2169		chr13	TogoVar

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