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 per page.

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
RGPD3_chr2_106398406_106473413	106412293	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG02055.hp2 others(2): Show HG01069.hp2 HG01071.hp1 HG02055.hp2 HG02486.hp1 HG03130.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0019 a0009c0010t0001 a0009c0010t0019	a0009c0010t0001g0331 a0009c0010t0001g0333 a0009c0010t0019g0334 others(2): Show a0009c0010t0001g0331 a0009c0010t0001g0333 a0009c0010t0019g0334 a0009c0010t0019g0335 a0009c0010t0019g0336	5	382	0.0131	-17	c.526 others(34): Show c.5266+774_5266+790delAAAAAAAAAAAAAAAAA	RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	22/22			chr2	TogoVar
RGPD4_chr2_107821892_107897544	107845207	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18977.hp1 HG03130.hp2 NA18977.hp1	a0012 a0028 a0012 a0028	a0012c0015 a0028c0045 a0012c0015 a0028c0045	a0012c0015t0001 a0028c0045t0027 a0012c0015t0001 a0028c0045t0027	a0012c0015t0001g0274 a0028c0045t0027g0344 a0012c0015t0001g0274 a0028c0045t0027g0344	2	374	0.0054	-17	c.782 others(34): Show c.782+1510_782+1526delTTTTTTTTTTTTTTTTT	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGPD4_chr2_107821892_107897544	107896552	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0056 a0056	a0056c0032 a0056c0032	a0056c0032t0001 a0056c0032t0001	a0056c0032t0001g0250 a0056c0032t0001g0250	1	374	0.0027	-17	c.58 others(28): Show c.5822_*5838delTTTTTTTTTTTTTTTTT	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding		4009		chr2	TogoVar
RGPD5_chr2_109789305_109862705	109851195	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	40	0.0250	-17	c.526 others(36): Show c.5263+3200_5263+3216delATAAAAAAAAAAAAAAA	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RGR_chr10_84240053_84264960	84256059	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0129 a0001c0001t0009g0129	1	426	0.0024	-17	c.630 others(34): Show c.630+1629_630+1645delTTTTTTTTTTTTTTTTT	RGR	ENSG00000148604.15	transcript	ENST00000652092.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
RGS11_chr16_263307_280944	276164	TGGGCCGG others(10): Show TGGGCCGGGGGCCGAGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01109.hp2 HG01891.hp1 others(37): Show HG01071.hp1 HG01109.hp2 HG01891.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0006 a0007 a0009 a0010 a0017 a0019	a0001c0001 a0001c0002 a0002c0003 others(10): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0003c0009 a0003c0013 a0003c0023 a0006c0014 a0007c0016 a0009c0020 a0010c0021 a0017c0031 a0019c0029	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(15): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0002t0013 a0002c0003t0002 a0003c0004t0002 a0003c0004t0004 a0003c0004t0009 a0003c0009t0006 a0003c0013t0002 a0003c0023t0002 a0006c0014t0002 a0007c0016t0002 a0009c0020t0007 a0010c0021t0004 a0017c0031t0012 a0019c0029t0002	a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0115 others(31): Show a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0115 a0001c0001t0005g0109 a0001c0001t0005g0111 a0001c0001t0010g0180 a0001c0002t0001g0001 a0001c0002t0013g0118 a0002c0003t0002g0103 a0003c0004t0002g0039 a0003c0004t0002g0074 a0003c0004t0002g0097 a0003c0004t0002g0099 a0003c0004t0002g0113 a0003c0004t0002g0114 a0003c0004t0002g0120 a0003c0004t0002g0184 a0003c0004t0004g0096 a0003c0004t0004g0100 a0003c0004t0009g0181 a0003c0009t0006g0102 a0003c0009t0006g0108 a0003c0013t0002g0023 a0003c0013t0002g0098 a0003c0023t0002g0117 a0006c0014t0002g0095 a0006c0014t0002g0119 a0006c0014t0002g0174 a0007c0016t0002g0104 a0007c0016t0002g0112 a0009c0020t0007g0107 a0010c0021t0004g0092 a0017c0031t0012g0094 a0019c0029t0002g0105	40	456	0.0877	-17	c.-27 others(26): Show c.-270_-254delCCCTCGGCCCCCGGCCC	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		221		chr16	TogoVar
RGS12_chr4_3288021_3444913	3319550	CCTGAGTA others(10): Show CCTGAGTAGCTGGGACTA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0013 a0013	a0013c0045 a0013c0045	a0013c0045t0001 a0013c0045t0001	a0013c0045t0001g0166 a0013c0045t0001g0166	1	312	0.0032	-17	c.188 others(36): Show c.1881+1518_1881+1534delTGAGTAGCTGGGACTAC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3368511	TGTGTGTG others(10): Show TGTGTGTGTGTGGGGTAC	T T	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0022 a0001c0021t0001g0022	1	312	0.0032	-17	c.199 others(38): Show c.1999-17880_1999-17864delTGTGGGGTACGTGTGTG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3388195	AGAGGAGG others(10): Show AGAGGAGGAGACGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG01243.hp2 others(13): Show HG01167.hp1 HG01243.hp1 HG01243.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp2 HG03098.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp1 NA20300.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0004 a0001c0009 a0004c0019 others(1): Show a0001c0004 a0001c0009 a0004c0019 a0005c0012	a0001c0004t0001 a0001c0009t0001 a0004c0019t0001 others(1): Show a0001c0004t0001 a0001c0009t0001 a0004c0019t0001 a0005c0012t0001	a0001c0004t0001g0101 a0001c0004t0001g0218 a0001c0004t0001g0248 others(13): Show a0001c0004t0001g0101 a0001c0004t0001g0218 a0001c0004t0001g0248 a0001c0009t0001g0102 a0001c0009t0001g0103 a0001c0009t0001g0104 a0001c0009t0001g0105 a0004c0019t0001g0012 a0004c0019t0001g0014 a0005c0012t0001g0151 a0005c0012t0001g0152 a0005c0012t0001g0155 a0005c0012t0001g0156 a0005c0012t0001g0157 a0005c0012t0001g0158 a0005c0012t0001g0160	16	312	0.0513	-17	c.202 others(36): Show c.2020+1816_2020+1832delGAGACGGGAGGGAGGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS13_chr1_192631147_192665311	192641228	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	420	0.0024	-17	c.-5+ others(32): Show c.-5+3037_-5+3053delGAAAGAAAAGAAAGAAA	RGS13	ENSG00000127074.15	transcript	ENST00000391995.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS13_chr1_192631147_192665311	192641245	AAAAGAAA others(10): Show AAAAGAAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0049 a0001c0003t0005g0049	2	420	0.0048	-17	c.-5+ others(32): Show c.-5+3054_-4-3058delAGAAAGAAAGAAAGAAA	RGS13	ENSG00000127074.15	transcript	ENST00000391995.7	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
RGS14_chr5_177352924_177377596	177371062	GCGGGGCC others(10): Show GCGGGGCCGGGCCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02647.hp2 others(6): Show HG01891.hp1 HG02258.hp2 HG02647.hp2 HG02723.hp2 HG02895.hp1 HG02897.hp1 HG03225.hp2 NA19030.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0002g0024 a0001c0001t0002g0120 a0001c0001t0002g0134 others(3): Show a0001c0001t0002g0024 a0001c0001t0002g0120 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0155 a0003c0004t0001g0048	9	418	0.0215	-17	c.125 others(32): Show c.1254+42_1254+58delCCGGGGCCGGGGCCGGG	RGS14	ENSG00000169220.18	transcript	ENST00000408923.8	protein_coding	11/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS20_chr8_53846795_53964303	53889412	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	258	0.0039	-17	c.510 others(34): Show c.510+9833_510+9849delTTTTTTTTTTTTTTTTT	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RGS22_chr8_99955936_100111049	100016978	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp2 HG03453.hp2 others(5): Show HG02559.hp2 HG03041.hp2 HG03453.hp2 NA18906.hp1 NA18973.hp2 NA18985.hp2 NA19030.hp1 NA20129.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0005 a0008c0013 a0001c0001 a0003c0005 a0008c0013	a0001c0001t0001 a0003c0005t0001 a0008c0013t0001 a0001c0001t0001 a0003c0005t0001 a0008c0013t0001	a0001c0001t0001g0180 a0001c0001t0001g0297 a0003c0005t0001g0057 others(5): Show a0001c0001t0001g0180 a0001c0001t0001g0297 a0003c0005t0001g0057 a0003c0005t0001g0060 a0003c0005t0001g0068 a0003c0005t0001g0094 a0003c0005t0001g0095 a0008c0013t0001g0089	8	310	0.0258	-17	c.216 others(36): Show c.2167-8426_2167-8410delAAAAAAAAAAAAAAAAA	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	14/27			chr8	TogoVar
RGS22_chr8_99955936_100111049	100039265	AATGGTAA others(10): Show AATGGTAAGTATTCTAGT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01358.hp1 HG01123.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0001g0183 a0001c0001t0001g0187	2	310	0.0065	-17	c.206 others(34): Show c.2065-250_2065-234delACTAGAATACTTACCAT	RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	13/27			chr8	TogoVar
RGS6_chr14_71927429_72571530	72208918	TAATGAAA others(10): Show TAATGAAATAAGAATATC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(108): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18961.hp1 NA18961.hp2 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA18983.hp2 NA19003.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(45): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012 a0001c0002t0015 a0001c0002t0036 a0001c0003t0001 a0001c0003t0022 a0001c0004t0008 a0001c0005t0007 a0001c0006t0029	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 others(108): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0002g0012 a0001c0001t0002g0035 a0001c0001t0002g0040 a0001c0001t0002g0063 a0001c0001t0002g0077 a0001c0001t0002g0106 a0001c0001t0003g0018 a0001c0001t0003g0042 a0001c0001t0003g0085 a0001c0001t0003g0101 a0001c0001t0003g0129 a0001c0001t0004g0009 a0001c0001t0004g0062 a0001c0001t0004g0076 a0001c0001t0004g0089 a0001c0001t0005g0001 a0001c0001t0005g0056 a0001c0001t0005g0070 a0001c0001t0005g0088 a0001c0001t0005g0108 a0001c0001t0006g0033 a0001c0001t0006g0116 a0001c0001t0007g0097 a0001c0001t0007g0098 a0001c0001t0008g0112 a0001c0001t0009g0113 a0001c0001t0009g0115 a0001c0001t0010g0007 a0001c0001t0010g0075 a0001c0001t0010g0107 a0001c0001t0011g0017 a0001c0001t0011g0055 a0001c0001t0012g0105 a0001c0001t0012g0123 a0001c0001t0013g0006 a0001c0001t0013g0043 a0001c0001t0013g0128 a0001c0001t0014g0002 a0001c0001t0014g0029 a0001c0001t0014g0057 a0001c0001t0016g0010 a0001c0001t0016g0126 a0001c0001t0017g0122 a0001c0001t0019g0058 a0001c0001t0019g0102 a0001c0001t0020g0051 a0001c0001t0020g0120 a0001c0001t0021g0079 a0001c0001t0021g0110 a0001c0001t0022g0080 a0001c0001t0023g0054 a0001c0001t0024g0090 a0001c0001t0024g0099 a0001c0001t0025g0026 a0001c0001t0026g0021 a0001c0001t0027g0045 a0001c0001t0028g0086 a0001c0001t0030g0013 a0001c0001t0031g0027 a0001c0001t0032g0039 a0001c0001t0033g0061 a0001c0001t0034g0087 a0001c0001t0037g0053 a0001c0001t0038g0060 a0001c0001t0039g0091 a0001c0001t0041g0094 a0001c0001t0042g0093 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0028 a0001c0002t0001g0041 a0001c0002t0001g0104 a0001c0002t0002g0015 a0001c0002t0002g0036 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0003g0019 a0001c0002t0007g0095 a0001c0002t0012g0125 a0001c0002t0015g0081 a0001c0002t0015g0130 a0001c0002t0036g0059 a0001c0003t0001g0031 a0001c0003t0001g0109 a0001c0003t0022g0050 a0001c0004t0008g0047 a0001c0005t0007g0100 a0001c0006t0029g0111	111	130	0.8539	-17	c.85- others(36): Show c.85-143146_85-143130delTATCAATGAAATAAGAA	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS6_chr14_71927429_72571530	72506984	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0017 a0001c0001t0011g0017	1	130	0.0077	-17	c.966 others(34): Show c.966-3151_966-3135delAAAAAAAAAAAAAAAAA	RGS6	ENSG00000182732.18	transcript	ENST00000553525.6	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGS7BP_chr5_64501015_64617319	64527606	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG03098.hp2 others(5): Show HG01891.hp1 HG02258.hp1 HG03098.hp2 HG03225.hp2 HG06807.hp1 NA18522.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0034 a0001c0001t0001g0093 a0001c0001t0001g0094 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0088 a0001c0001t0002g0089	8	280	0.0286	-17	c.332 others(36): Show c.332+19749_332+19765delAAAAAAAAAAAAAAAAA	RGS7BP	ENSG00000186479.5	transcript	ENST00000334025.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS7BP_chr5_64501015_64617319	64556444	CACACACA others(10): Show CACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	280	0.0036	-17	c.333 others(36): Show c.333-19328_333-19312delCACACACACACACACAA	RGS7BP	ENSG00000186479.5	transcript	ENST00000334025.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RGS7_chr1_240770514_241362205	240955551	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG04115.hp1 HG02615.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0087 a0001c0001t0001g0043 a0001c0001t0001g0087	2	112	0.0179	-17	c.227 others(36): Show c.227-18862_227-18846delTTTTTTTTTTTTTTTTT	RGS7	ENSG00000182901.18	transcript	ENST00000440928.6	protein_coding	4/18			chr1	TogoVar
RHBDL1_chr16_670671_683268	678462	GGGCCGGG others(10): Show GGGCCGGGCGTGTGGTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	372	0.0027	-17	c.41 others(26): Show c.411_*427delGGCCGGGCGTGTGGTCA	RHBDL1	ENSG00000103269.14	transcript	ENST00000352681.8	protein_coding		195		chr16	TogoVar
RHCE_chr1_25357249_25425825	25379483	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0330 a0003c0003t0001g0330	1	334	0.0030	-17	c.107 others(36): Show c.1074-4072_1074-4056delAAAAATATATATATATA	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	7/9			chr1	TogoVar
RHCE_chr1_25357249_25425825	25379487	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01123.hp2 others(3): Show HG00738.hp1 HG00741.hp1 HG01123.hp2 HG02818.hp1 HG03209.hp2 HG04204.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0214 a0003c0003t0001g0271 a0003c0003t0001g0272 others(3): Show a0003c0003t0001g0214 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0293 a0003c0003t0001g0294 a0004c0004t0001g0177	6	334	0.0180	-17	c.107 others(36): Show c.1074-4076_1074-4060delAAAAAAAAATATATATA	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	7/9			chr1	TogoVar
RHCE_chr1_25357249_25425825	25379489	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18946.hp1 NA19060.hp1 HG02717.hp1 NA18946.hp1 NA19060.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0206 a0004c0004t0001g0119 a0004c0004t0001g0150 a0002c0002t0001g0206 a0004c0004t0001g0119 a0004c0004t0001g0150	3	334	0.0090	-17	c.107 others(36): Show c.1074-4078_1074-4062delAAAAAAAAAAATATATA	RHCE	ENSG00000188672.19	transcript	ENST00000294413.13	protein_coding	7/9			chr1	TogoVar
RHD_chr1_25267509_25335445	25312920	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02083.hp1 HG02040.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0099 a0001c0001t0001g0101	2	214	0.0094	-17	c.107 others(36): Show c.1074-4061_1074-4045delAAAAAAAAAAAAAAAAA	RHD	ENSG00000187010.21	transcript	ENST00000328664.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
RHNO1_chr12_2872223_2894524	2883497	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA19072.hp1 NA19085.hp1 HG03471.hp2 NA19072.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0006g0181 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0006g0181	3	426	0.0070	-17	c.-84 others(34): Show c.-84-1784_-84-1768delATATATATATATATTTT	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RHNO1_chr12_2872223_2894524	2883499	ATATATAT others(10): Show ATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp2 HG02818.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0112 a0001c0001t0003g0108 a0001c0001t0003g0112	2	426	0.0047	-17	c.-84 others(34): Show c.-84-1782_-84-1766delATATATATATATTTTTT	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RHNO1_chr12_2872223_2894524	2883501	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02109.hp2 HG02145.hp2 others(12): Show HG01346.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02630.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0003g0016 others(5): Show a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0066 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0113	15	426	0.0352	-17	c.-84 others(34): Show c.-84-1780_-84-1764delATATATATATTTTTTTT	RHNO1	ENSG00000171792.11	transcript	ENST00000489288.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RHOA_chr3_49354145_49416976	49387117	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02683.hp1 HG02897.hp2 others(1): Show HG02451.hp2 HG02683.hp1 HG02897.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008	4	264	0.0152	-17	c.-2- others(34): Show c.-2-11543_-2-11527delTTTTTTTTTTTTTTTTT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOA_chr3_49354145_49416976	49399054	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	264	0.0038	-17	c.-3+ others(34): Show c.-3+12749_-3+12765delTTTTTTTTTTTTTTTTT	RHOA	ENSG00000067560.14	transcript	ENST00000418115.6	protein_coding	1/4			chr3	TogoVar
RHOC_chr1_112696131_112712127	112706447	ACACACAC others(10): Show ACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	428	0.0023	-17	c.-77 others(32): Show c.-77+614_-77+630delGTGTGTGTGTGTGTGTG	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHOF_chr12_121772754_121798688	121773940	AACTCTGC others(10): Show AACTCTGCTATCTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02615.hp1 HG02258.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	2	386	0.0052	-17	c.55 others(28): Show c.5541_*5557delAAAAAAGATAGCAGAGT	RHOF	ENSG00000139725.8	transcript	ENST00000267205.7	protein_coding		3813		chr12	TogoVar
RHOQ_chr2_46537490_46589688	46578569	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	332	0.0030	-17	c.462 others(34): Show c.462+1934_462+1950delAAAAAAAAAAAAAAAAA	RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
RHOT2_chr16_663132_679171	678462	GGGCCGGG others(10): Show GGGCCGGGCGTGTGGTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03041.hp1 HG02970.hp2 HG03041.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0007 a0008c0017t0007	a0008c0017t0007g0002 a0008c0017t0007g0002	2	380	0.0053	-17	c.48 others(28): Show c.4857_*4873delGGCCGGGCGTGTGGTCA	RHOT2	ENSG00000140983.15	transcript	ENST00000315082.9	protein_coding		4292		chr16	TogoVar
RHO_chr3_129523639_129540344	129537393	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-17	c.36 others(28): Show c.3676_*3692delTTTCTTTCTTTCTTTCT	RHO	ENSG00000163914.5	transcript	ENST00000296271.4	protein_coding		2050		chr3	TogoVar
RHPN2_chr19_32973592_33069888	32988636	CCAAAAGG others(10): Show CCAAAAGGCCTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	326	0.0031	-17	c.180 others(36): Show c.1800+1861_1800+1877delAAAAAGAAGGCCTTTTG	RHPN2	ENSG00000131941.8	transcript	ENST00000254260.8	protein_coding	14/14			chr19	TogoVar
RIBC2_chr22_45408693_45437509	45409593	TAAATAAA others(10): Show TAAATAAATAAATAAATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	424	0.0024	-17	c.-42 others(28): Show c.-4293_-4277delAAATAAATAAATAAATA	RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding		4099		chr22	TogoVar
RIC1_chr9_5624107_5781557	5684274	ACCCCCCC others(10): Show ACCCCCCCCCCCCCCCCC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0143 a0001c0001t0005g0143	1	328	0.0031	-17	c.253 others(34): Show c.253-5674_253-5658delCCCCCCCCCCCCCCCCC	RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RIC1_chr9_5624107_5781557	5684285	CCCCCCCC others(10): Show CCCCCCCCCCCCCCCCCG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0019 a0001c0006t0019	a0001c0006t0019g0219 a0001c0006t0019g0219	1	328	0.0031	-17	c.253 others(34): Show c.253-5671_253-5655delCCCCCCCCCCCCCCGCC	RIC1	ENSG00000107036.12	transcript	ENST00000414202.7	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr9	TogoVar
RICTOR_chr5_38932920_39079399	39000783	GAGGTCAA others(10): Show GAGGTCAATATCTCCAAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0331 a0001c0005t0016g0331	1	338	0.0030	-17	c.392 others(34): Show c.392+1735_392+1751delGTTGGAGATATTGACCT	RICTOR	ENSG00000164327.14	transcript	ENST00000357387.8	protein_coding	5/37			chr5	TogoVar
RIF1_chr2_151404902_151487172	151408159	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0007 a0008c0012t0007	a0008c0012t0007g0290 a0008c0012t0007g0290	1	380	0.0026	-17	c.-18 others(28): Show c.-1884_-1868delAAAAAATATATATATAT	RIF1	ENSG00000080345.18	transcript	ENST00000444746.7	protein_coding		1742		chr2	TogoVar
RIF1_chr2_151404902_151487172	151408161	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG03540.hp2 HG01175.hp1 HG03540.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0007 a0008c0012t0007	a0008c0012t0007g0291 a0008c0012t0007g0294 a0008c0012t0007g0291 a0008c0012t0007g0294	2	380	0.0053	-17	c.-18 others(28): Show c.-1882_-1866delAAAATATATATATATAT	RIF1	ENSG00000080345.18	transcript	ENST00000444746.7	protein_coding		1740		chr2	TogoVar
RIF1_chr2_151404902_151487172	151424840	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0023 a0023	a0023c0026 a0023c0026	a0023c0026t0044 a0023c0026t0044	a0023c0026t0044g0051 a0023c0026t0044g0051	1	380	0.0026	-17	c.786 others(34): Show c.786+1799_786+1815delTTTTTTTTTTTTTTTTC	RIF1	ENSG00000080345.18	transcript	ENST00000444746.7	protein_coding	8/35			chr2	TogoVar
RIF1_chr2_151404902_151487172	151486661	TGGGTAGT others(10): Show TGGGTAGTAACAAGAATG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG02040.hp1 others(1): Show HG00423.hp2 HG00609.hp1 HG02040.hp1 NA18972.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0013 a0006c0011t0013	a0006c0011t0013g0092 a0006c0011t0013g0093 a0006c0011t0013g0176 others(1): Show a0006c0011t0013g0092 a0006c0011t0013g0093 a0006c0011t0013g0176 a0006c0011t0013g0177	4	380	0.0105	-17	c.11 others(30): Show c.11591_*11607delGGGTAGTAACAAGAATG	RIF1	ENSG00000080345.18	transcript	ENST00000444746.7	protein_coding		4490		chr2	TogoVar
RIGI_chr9_32450302_32531196	32524588	GTTTTTCG others(10): Show GTTTTTCGGTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02735.hp2 HG02683.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0131 a0001c0001t0001g0132	2	344	0.0058	-17	c.106 others(34): Show c.106+1456_106+1472delAAAAAAAAACCGAAAAA	RIGI	ENSG00000107201.11	transcript	ENST00000379883.3	protein_coding	1/17			chr9	TogoVar
RILPL1_chr12_123465054_123538719	123477292	AGAGTAGC others(10): Show AGAGTAGCTAGGAGTTAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02622.hp2 HG02630.hp2 others(8): Show HG02258.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0003 a0001c0002t0003 a0002c0003t0003 a0001c0001t0003 a0001c0002t0003 a0002c0003t0003	a0001c0001t0003g0006 a0001c0002t0003g0115 a0001c0002t0003g0116 others(8): Show a0001c0001t0003g0006 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0003g0122 a0001c0002t0003g0127 a0001c0002t0003g0130 a0002c0003t0003g0183	11	210	0.0524	-17	c.106 others(36): Show c.1068-4627_1068-4611delCTAACTCCTAGCTACTC	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	6/6			chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130584213	CTCACCAC others(10): Show CTCACCACCACCATCACT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01891.hp2 HG02258.hp2 others(6): Show HG00099.hp1 HG01891.hp2 HG02258.hp2 HG02486.hp2 HG03130.hp2 HG03139.hp2 NA18522.hp1 NA18906.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0016	a0001c0002 a0001c0004 a0001c0020 others(5): Show a0001c0002 a0001c0004 a0001c0020 a0001c0048 a0002c0014 a0002c0033 a0004c0039 a0016c0031	a0001c0002t0001 a0001c0004t0001 a0001c0020t0001 others(5): Show a0001c0002t0001 a0001c0004t0001 a0001c0020t0001 a0001c0048t0001 a0002c0014t0002 a0002c0033t0008 a0004c0039t0001 a0016c0031t0002	a0001c0002t0001g0168 a0001c0002t0001g0177 a0001c0004t0001g0180 others(6): Show a0001c0002t0001g0168 a0001c0002t0001g0177 a0001c0004t0001g0180 a0001c0020t0001g0118 a0001c0048t0001g0011 a0002c0014t0002g0105 a0002c0033t0008g0166 a0004c0039t0001g0132 a0016c0031t0002g0097	9	180	0.0500	-17	c.-21 others(38): Show c.-217+44092_-217+44108delAGTGATGGTGGTGGTGA	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	2/22			chr12	TogoVar
RIMKLB_chr12_8692991_8782191	8781498	TGTTCCAC others(10): Show TGTTCCACTCTGCCATCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03579.hp2 HG02717.hp2 HG03579.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0006 a0002c0003t0018g0007 a0002c0003t0018g0006 a0002c0003t0018g0007	2	294	0.0068	-17	c.77 others(28): Show c.7715_*7731delGTTCCACTCTGCCATCA	RIMKLB	ENSG00000166532.16	transcript	ENST00000535829.6	protein_coding		4308		chr12	TogoVar
RIMS1_chr6_71881550_72408145	72038113	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0120 a0002c0004t0001g0120	1	140	0.0071	-17	c.246 others(36): Show c.246-58834_246-58818delAAAAATATATATATATA	RIMS1	ENSG00000079841.20	transcript	ENST00000521978.6	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIMS2_chr8_103495610_104259430	103555867	AGGAAATC others(10): Show AGGAAATCCTATCATATG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0001 a0001c0001t0005g0001	1	172	0.0058	-17	c.176 others(36): Show c.176+54806_176+54822delGGAAATCCTATCATATG	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding	1/29			chr8	TogoVar

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Search Results (Total: 9132 hits)