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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RGN_chrX_47073443_47098313	47074232	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	304	0.0033	-48	c.-51 others(59): Show c.-5112_-5065delAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGGAA GGAAGGAAGGAAGG		RGN	ENSG00000130988.13	transcript	ENST00000397180.6	protein_coding					4210		chrX	TogoVar
RGPD3_chr2_106398406_106473413	106467183	GCCTCAAC others(41): Show GCCTCAACAGAGCGCGCCAGGGAGCAGCGCCCGTCGGGAGCCATGACGC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0036 a0036	a0036c0057 a0036c0057	a0036c0057t0054 a0036c0057t0054	a0036c0057t0054g0260 a0036c0057t0054g0260	1	382	0.0026	-48	c.72+ others(62): Show c.72+986_72+1033delGCGTCATGGCTCCCGACGGGCGCTGCTCCCT GGCGCGCTCTGTTGAGG		RGPD3	ENSG00000153165.19	transcript	ENST00000409886.4	protein_coding	1/22						chr2	TogoVar
RGS22_chr8_99955936_100111049	100051913	TTATATAT others(41): Show TTATATATAAATGTTTATATATATTTATATATTTATATATAAATGTTTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02630.hp1 HG02647.hp2 others(7): Show HG01884.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG03139.hp1 HG03486.hp2 HG06807.hp2 NA18954.hp1 NA18983.hp2 NA19030.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0001 a0006c0007t0001 a0001c0001t0001 a0006c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0048 a0001c0001t0001g0049 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0066 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0283 a0006c0007t0001g0113 a0006c0007t0001g0125 a0006c0007t0001g0126	10	310	0.0323	-48	c.168 others(65): Show c.1689+841_1689+888delTAAACATTTATATATAAATATATAAATA TATATAAACATTTATATATA		RGS22	ENSG00000132554.21	transcript	ENST00000360863.11	protein_coding	10/27						chr8	TogoVar
RGSL1_chr1_182445146_182565597	182509671	AACCCCCC others(41): Show AACCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0153 a0003c0003t0001g0153	1	338	0.0030	-48	c.182 others(69): Show c.1826-12325_1826-12278delACCTCCCTCCCGGACGGCACGGCT GGCCGGGCGGGGGGCTGACCCCCC		RGSL1	ENSG00000121446.20	transcript	ENST00000294854.13	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
RHOC_chr1_112696131_112712127	112706454	CACACACA others(41): Show CACACACACACCACACACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00642.hp2 others(26): Show HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG01891.hp2 HG02145.hp2 HG02451.hp1 HG02602.hp1 HG02698.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02970.hp2 HG03041.hp1 HG03453.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA18941.hp1 NA18956.hp1 NA18960.hp2 NA18967.hp1 NA18971.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19003.hp1 NA19063.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0061 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0001g0061 a0001c0001t0001g0062	29	428	0.0678	-48	c.-77 others(63): Show c.-77+576_-77+623delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGGTGTGTGTGT		RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5						chr1	TogoVar
RHOC_chr1_112696131_112712127	112706456	CACACACA others(41): Show CACACACACCACACACACACACACACACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02486.hp2 others(4): Show HG01884.hp2 HG02055.hp2 HG02486.hp2 HG02559.hp1 HG02896.hp1 HG06807.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	7	428	0.0164	-48	c.-77 others(63): Show c.-77+574_-77+621delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGGTGTGTGT		RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5						chr1	TogoVar
RHOQ_chr2_46537490_46589688	46546471	TATGTGTA others(41): Show TATGTGTATATATATATATATATATATATATATATATATATGTATATAC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00597.hp2 others(37): Show HG00280.hp2 HG00408.hp2 HG00597.hp2 HG00735.hp1 HG00738.hp2 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01952.hp1 HG01981.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02165.hp2 HG02300.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03654.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18959.hp1 NA18975.hp1 NA18975.hp2 NA19005.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 others(36): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0006g0005 a0001c0001t0006g0170 a0001c0001t0011g0101 a0001c0001t0015g0079	40	332	0.1205	-48	c.201 others(65): Show c.201+2662_201+2709delGTGTATATATATATATATATATATATAT ATATATATATGTATATACAT		RHOQ	ENSG00000119729.12	transcript	ENST00000238738.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
RIBC2_chr22_45408693_45437509	45421493	TTATTATT others(41): Show TTATTATTAATAATAGTATTATTAATAATAATAATAGTATTATTAATAA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0108 a0003c0003t0003g0108	1	424	0.0024	-48	c.557 others(63): Show c.557-791_557-744delTTAATAATAGTATTATTAATAATAATAATA GTATTATTAATAATATTA		RIBC2	ENSG00000128408.9	transcript	ENST00000614167.2	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr22	TogoVar
RIMBP2_chr12_130391133_130721299	130646082	ACCACTTC others(41): Show ACCACTTCCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCT	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0047 a0001c0005t0001g0047	1	180	0.0056	-48	c.-35 others(69): Show c.-351-17674_-351-17627delAGAGGCAGGTGGTGAGGGAGGTGG AGAGGGAGGTGGAGAGGGAAGTGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646101	CCCTCTCC others(41): Show CCCTCTCCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18986.hp1 NA19081.hp1 HG01175.hp2 NA18986.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0022 a0001c0002t0001g0046 a0001c0002t0001g0065 a0001c0001t0001g0022 a0001c0002t0001g0046 a0001c0002t0001g0065	3	180	0.0167	-48	c.-35 others(69): Show c.-351-17693_-351-17646delCAGGTGGTGAGGGAGGTGGAGAGG CAGGTGGTGAGGGAGGTGGAGAGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646393	CACCACCT others(41): Show CACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0172 a0002c0010t0001g0172	1	180	0.0056	-48	c.-35 others(69): Show c.-351-17985_-351-17938delAAGGGAGGTGGAGAGGGAAGTGGT GAGGGAGGTGGAGAGGCAGGTGGT		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIMBP2_chr12_130391133_130721299	130646394	ACCACCTG others(41): Show ACCACCTGCCTCTCCACCTCCCTCACCACTTCCCTCTCCACCTCCCTTG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0020 a0001c0004t0001g0020	1	180	0.0056	-48	c.-35 others(69): Show c.-351-17986_-351-17939delCAAGGGAGGTGGAGAGGGAAGTGG TGAGGGAGGTGGAGAGGCAGGTGG		RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22						chr12	TogoVar
RIN3_chr14_92508781_92693994	92640265	ACTGTGTG others(41): Show ACTGTGTGTTTGCTGGGAGATGCCTGACTGTGTGTTCATCGGGGGCTGC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp1 HG00733.hp1 HG01106.hp1	a0012 a0012	a0012c0024 a0012c0024	a0012c0024t0001 a0012c0024t0001	a0012c0024t0001g0113 a0012c0024t0001g0176 a0012c0024t0001g0113 a0012c0024t0001g0176	2	334	0.0060	-48	c.441 others(63): Show c.441-921_441-874delTGTGTTTGCTGGGAGATGCCTGACTGTGTG TTCATCGGGGGCTGCCTG		RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
RIPPLY3_chr21_37001702_37024662	37018212	GTCTCTGT others(41): Show GTCTCTGTCTCCTGGGCCCTGCTCTGGGACCTGCCCCTCACGTTCTCTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0019 a0000c0005t0019	a0000c0005t0019g0118 a0000c0005t0019g0118	1	434	0.0023	-48	c.6_ others(54): Show c.6_*53delTCTCTGTCTCCTGGGCCCTGCTCTGGGACCTGCCCCTCA CGTTCTCTT		RIPPLY3	ENSG00000183145.9	transcript	ENST00000329553.3	protein_coding	4/4				6		chr21	TogoVar
RNASET2_chr6_166917113_166961550	166955324	CACGCACG others(41): Show CACGCACGCACGCACACGCACACGCACGCACACACACACGCACACACAA	C C	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01256.hp1 HG01928.hp1 others(8): Show HG01168.hp2 HG01256.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG02080.hp2 HG02132.hp1 HG02273.hp2 NA18971.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0049 a0001c0001t0052	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 others(7): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0010g0004 a0001c0001t0010g0051 a0001c0001t0013g0052 a0001c0001t0018g0202 a0001c0001t0049g0056 a0001c0001t0052g0054	11	346	0.0318	-48	c.86+ others(61): Show c.86+725_86+772delTTGTGTGTGCGTGTGTGTGTGCGTGCGTGTGC GTGTGCGTGCGTGCGT		RNASET2	ENSG00000026297.17	transcript	ENST00000508775.6	protein_coding	1/8						chr6	TogoVar
RNF126_chr19_642526_668214	667361	GTCCCAGG others(41): Show GTCCCAGGCGGACCACGTCCCAGGCGGACCAAGCCCAGGTGGACCACGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0392 a0001c0002t0001g0392	1	434	0.0023	-48	c.-42 others(59): Show c.-4288_-4241delACGTGGTCCACCTGGGCTTGGTCCGCCTGGGACG TGGTCCGCCTGGGA		RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding					4148		chr19	TogoVar
RNF135_chr17_30966039_31004911	30980025	GGGCGGGG others(41): Show GGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACTGGGCGGCTGGCCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp1 HG02895.hp1 others(2): Show HG02109.hp1 HG02145.hp1 HG02895.hp1 HG02896.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 others(2): Show a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073	5	266	0.0188	-48	c.373 others(65): Show c.373-4577_373-4530delCCCCCACCTCCCTCCCGGACTGGGCGGC TGGCCAGGCGGGGGGCTGAC		RNF135	ENSG00000181481.14	transcript	ENST00000328381.10	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF138_chr18_32086874_32136561	32130972	TCAAAGTT others(41): Show TCAAAGTTTAATACATCCAATATGTCAAGTTAAACCATTCTGGGATTTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(247): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0003t0003 a0001c0005t0004 a0002c0002t0006 a0003c0004t0014	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(205): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0166 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0160 a0001c0001t0004g0164 a0001c0001t0004g0167 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0005g0007 a0001c0001t0005g0023 a0001c0001t0005g0188 a0001c0001t0005g0189 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0295 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0007g0018 a0001c0001t0007g0135 a0001c0001t0007g0137 a0001c0001t0007g0139 a0001c0001t0007g0142 a0001c0001t0007g0150 a0001c0001t0007g0151 a0001c0001t0007g0153 a0001c0001t0009g0011 a0001c0001t0009g0042 a0001c0001t0009g0112 a0001c0001t0011g0017 a0001c0001t0011g0073 a0001c0001t0012g0161 a0001c0001t0012g0162 a0001c0001t0012g0163 a0001c0001t0016g0001 a0001c0001t0016g0222 a0001c0001t0017g0249 a0001c0001t0018g0202 a0001c0001t0020g0244 a0001c0001t0022g0234 a0001c0001t0026g0165 a0001c0001t0027g0211 a0001c0001t0030g0224 a0001c0001t0031g0230 a0001c0003t0003g0128 a0001c0005t0004g0173 a0002c0002t0006g0033 a0002c0002t0006g0194 a0002c0002t0006g0195 a0002c0002t0006g0196 a0002c0002t0006g0197 a0002c0002t0006g0198 a0002c0002t0006g0199 a0002c0002t0006g0265 a0003c0004t0014g0024	250	362	0.6906	-48	c.18 others(59): Show c.1882_*1929delCAAAGTTTAATACATCCAATATGTCAAGTTAAAC CATTCTGGGATTTG		RNF138	ENSG00000134758.14	transcript	ENST00000261593.8	protein_coding	8/8				1882	INFO_REALIGN_3_PRIME	chr18	TogoVar
RNF150_chr4_140854807_141138469	141000039	AAGAAGAA others(41): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02451.hp1 HG02976.hp1 others(4): Show HG01496.hp1 HG02451.hp1 HG02976.hp1 HG03209.hp2 HG03516.hp1 HG06807.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011	a0001c0001t0003g0021 a0001c0001t0003g0026 a0001c0001t0003g0027 others(4): Show a0001c0001t0003g0021 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0066 a0001c0001t0009g0020 a0001c0001t0011g0123	7	184	0.0380	-48	c.485 others(67): Show c.485-32214_485-32167delCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCT		RNF150	ENSG00000170153.11	transcript	ENST00000515673.7	protein_coding	1/6						chr4	TogoVar
RNF20_chr9_101528853_101568344	101543295	GCCAGGGC others(41): Show GCCAGGGCGGCACTGTCTAACCCTTCCAGGGCGGCACTGTCTAACCCTT	G G	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	406	0.0049	-48	c.629 others(65): Show c.629-1448_629-1401delTCCAGGGCGGCACTGTCTAACCCTTCCA GGGCGGCACTGTCTAACCCT		RNF20	ENSG00000155827.12	transcript	ENST00000389120.8	protein_coding	5/19					INFO_REALIGN_3_PRIME	chr9	TogoVar
RNF213_chr17_80255852_80403794	80313887	CTGGAGGT others(41): Show CTGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGAGGTAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	292	0.0034	-48	c.281 others(65): Show c.2811+742_2811+789delTGGTGATGGTGGAGGTGGTGGAGGTAAT GGAGGTGATGGTGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314001	ATGGTGGA others(41): Show ATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA21309.hp2 HG02486.hp2 NA21309.hp2	a0001 a0082 a0001 a0082	a0001c0001 a0082c0085 a0001c0001 a0082c0085	a0001c0001t0002 a0082c0085t0006 a0001c0001t0002 a0082c0085t0006	a0001c0001t0002g0115 a0082c0085t0006g0291 a0001c0001t0002g0115 a0082c0085t0006g0291	2	292	0.0069	-48	c.281 others(65): Show c.2811+868_2811+915delTGGTGATGGTGGAGGTGGTGGAGGTAAT GGAGGTGATGGTGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314562	ATGGTGGT others(41): Show ATGGTGGTGGTGGTGGTGGTGGTGGAGGTAATGGAGGTGATGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0055 a0013c0012t0055	a0013c0012t0055g0225 a0013c0012t0055g0225	1	292	0.0034	-48	c.281 others(67): Show c.2811+1411_2811+1458delTGGTGGTGGAGGTAATGGAGGTGATG GTGGTGGTGGTGGTGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80314949	GAGGTGAT others(41): Show GAGGTGATGGTGGTCGTGTAGGTGATGGTGGAGGTGATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0036 a0036	a0036c0144 a0036c0144	a0036c0144t0003 a0036c0144t0003	a0036c0144t0003g0173 a0036c0144t0003g0173	1	292	0.0034	-48	c.281 others(67): Show c.2811+1795_2811+1842delTCGTGTAGGTGATGGTGGAGGTGATG GTGGTGGTGAAGGTGATGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315243	ATGGTGGT others(41): Show ATGGTGGTGGACGTGATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01361.hp1 HG02056.hp2 others(5): Show HG01081.hp2 HG01361.hp1 HG02056.hp2 HG02615.hp2 HG03540.hp1 HG03704.hp1 HG06807.hp2 NA18980.hp1	a0001 a0009 a0013 others(3): Show a0001 a0009 a0013 a0023 a0036 a0048	a0001c0006 a0009c0016 a0009c0089 others(4): Show a0001c0006 a0009c0016 a0009c0089 a0013c0012 a0023c0087 a0036c0144 a0048c0091	a0001c0006t0005 a0009c0016t0003 a0009c0016t0009 others(5): Show a0001c0006t0005 a0009c0016t0003 a0009c0016t0009 a0009c0089t0005 a0013c0012t0056 a0023c0087t0013 a0036c0144t0003 a0048c0091t0018	a0001c0006t0005g0161 a0009c0016t0003g0138 a0009c0016t0009g0103 others(5): Show a0001c0006t0005g0161 a0009c0016t0003g0138 a0009c0016t0009g0103 a0009c0089t0005g0104 a0013c0012t0056g0192 a0023c0087t0013g0213 a0036c0144t0003g0173 a0048c0091t0018g0289	8	292	0.0274	-48	c.281 others(67): Show c.2812-1938_2812-1891delTGGACGTGATGGTGGAGGTAATGGAG GTGATGGTGGTGGTGGTGGTGG		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80315438	ATGGTGGT others(41): Show ATGGTGGTGGTGGTGGTGGTACTGGAGGTGATGGTGGAGGTAATGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0032 a0032	a0032c0022 a0032c0022	a0032c0022t0012 a0032c0022t0012	a0032c0022t0012g0170 a0032c0022t0012g0170	1	292	0.0034	-48	c.281 others(67): Show c.2812-1730_2812-1683delACTGGAGGTGATGGTGGAGGTAATGG AGGTGGTGGTGGTGGTGGTGGT		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF44_chr5_176521712_176542402	176530240	AGGCCTGC others(41): Show AGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCGGTG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01261.hp1 HG01978.hp2 others(2): Show HG01123.hp1 HG01261.hp1 HG01978.hp2 HG02486.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0035 a0001c0001t0001 a0001c0001t0003 a0001c0001t0035	a0001c0001t0001g0049 a0001c0001t0001g0136 a0001c0001t0003g0101 others(1): Show a0001c0001t0001g0049 a0001c0001t0001g0136 a0001c0001t0003g0101 a0001c0001t0035g0183	5	444	0.0113	-48	c.802 others(61): Show c.802-82_802-35delCACCGGGCTGACTTGCACCTGGGCTCCGGGGC GGCTGGGAGGCAGGCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530318	GGTGCAAG others(41): Show GGTGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01256.hp2 HG01258.hp1 others(13): Show HG00438.hp2 HG01256.hp2 HG01258.hp1 HG02056.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03209.hp2 HG03486.hp1 HG03688.hp2 HG04184.hp1 HG04199.hp1 NA18944.hp1 NA18951.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0037	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 others(7): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0209 a0001c0001t0002g0222 a0001c0001t0004g0076 a0001c0001t0006g0080 a0001c0001t0015g0019 a0001c0001t0037g0167	16	444	0.0360	-48	c.802 others(63): Show c.802-160_802-113delGTGGGCTCCGGGGCGGCTGGGAGGCAGGCC CACCGGGCTGACTTGCAC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530366	CGTGCAAG others(41): Show CGTGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCAG	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03139.hp2 HG03654.hp2 HG00438.hp1 HG03139.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0135 a0001c0001t0001g0174 a0001c0001t0008g0190 a0001c0001t0001g0135 a0001c0001t0001g0174 a0001c0001t0008g0190	3	444	0.0068	-48	c.801 others(63): Show c.801+168_802-161delCTGGGCTCCGGGGCGGCTGGGAGGCAGGCC CACCGGGCTGACTTGCAC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530384	GGGCCTGC others(41): Show GGGCCTGCCTCCCAGCCGCCCCGGAGCCCAGGTGCAAGTCAGCCCAGCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA19055.hp1 NA20129.hp2 HG00639.hp1 NA19055.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0002 a0001c0001t0001 a0001c0017t0002	a0001c0001t0001g0159 a0001c0001t0001g0207 a0001c0017t0002g0230 a0001c0001t0001g0159 a0001c0001t0001g0207 a0001c0017t0002g0230	3	444	0.0068	-48	c.801 others(63): Show c.801+150_802-179delTGCTGGGCTGACTTGCACCTGGGCTCCGGG GCGGCTGGGAGGCAGGCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530414	GGTGCAAG others(41): Show GGTGCAAGTCAGCCCAGCAGGCCTGCCTCCCAGCCGCCCCGGAGCCCAC	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02257.hp2 NA19240.hp1 HG02080.hp1 HG02257.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0016 a0001c0001 a0005c0016	a0001c0001t0009 a0001c0001t0010 a0005c0016t0036 a0001c0001t0009 a0001c0001t0010 a0005c0016t0036	a0001c0001t0009g0213 a0001c0001t0010g0130 a0005c0016t0036g0126 a0001c0001t0009g0213 a0001c0001t0010g0130 a0005c0016t0036g0126	3	444	0.0068	-48	c.801 others(63): Show c.801+120_801+167delGTGGGCTCCGGGGCGGCTGGGAGGCAGGCC TGCTGGGCTGACTTGCAC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530431	CAGGCCTG others(41): Show CAGGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTGCAAGTCAGCCCGGT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02630.hp1 HG02809.hp2 others(1): Show HG01081.hp1 HG02630.hp1 HG02809.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0018	a0001c0001t0003g0093 a0001c0001t0005g0106 a0001c0001t0013g0211 others(1): Show a0001c0001t0003g0093 a0001c0001t0005g0106 a0001c0001t0013g0211 a0001c0001t0018g0118	4	444	0.0090	-48	c.801 others(63): Show c.801+103_801+150delACCGGGCTGACTTGCACGTGGGCTCCGGGG CGGCTGGGAGGCAGGCCT		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
RNF44_chr5_176521712_176542402	176530501	GGGAGCCC others(41): Show GGGAGCCCAGATGCAGGTCGGCCCAGCGGGTCTGCCTCCCAGCTGCCCT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0203 a0001c0001t0008g0203	1	444	0.0023	-48	c.801 others(61): Show c.801+33_801+80delAGGGCAGCTGGGAGGCAGACCCGCTGGGCCGA CCTGCATCTGGGCTCC		RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10						chr5	TogoVar
ROBO2_chr3_77035099_77654964	77164371	ACCGTCCG others(41): Show ACCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00642.hp2 others(22): Show HG00140.hp1 HG00280.hp2 HG00642.hp2 HG00735.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp2 HG01255.hp2 HG01361.hp1 HG01361.hp2 HG02056.hp2 HG02559.hp1 HG02717.hp1 HG02895.hp2 HG03491.hp2 HG03654.hp1 HG03654.hp2 HG04228.hp1 NA18945.hp2 NA18957.hp2 NA18960.hp2 NA18968.hp2 NA18973.hp2 NA19006.hp1 NA19060.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0002t0032 a0001c0002t0047 a0003c0006t0002	a0001c0001t0001g0061 a0001c0001t0002g0097 a0001c0001t0003g0006 others(22): Show a0001c0001t0001g0061 a0001c0001t0002g0097 a0001c0001t0003g0006 a0001c0001t0003g0068 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0004g0024 a0001c0001t0004g0150 a0001c0001t0005g0050 a0001c0001t0006g0019 a0001c0001t0006g0025 a0001c0001t0007g0158 a0001c0001t0041g0054 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0066 a0001c0002t0002g0049 a0001c0002t0002g0076 a0001c0002t0007g0157 a0001c0002t0032g0102 a0001c0002t0047g0026 a0003c0006t0002g0092	25	160	0.1563	-48	c.388 others(67): Show c.388+66055_388+66102delTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGG		ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27					INFO_REALIGN_3_PRIME	chr3	TogoVar
RORB_chr9_74492335_74698177	74549535	GGGAGGGA others(41): Show GGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03704.hp1 HG02257.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0209 a0001c0001t0018g0029 a0001c0001t0001g0209 a0001c0001t0018g0029	2	226	0.0089	-48	c.7+5 others(63): Show c.7+51556_7+51603delGGGAGGGAGGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGA		RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RORB_chr9_74492335_74698177	74549539	GGGAGGGA others(41): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0101 a0001c0001t0006g0101	1	226	0.0044	-48	c.7+5 others(63): Show c.7+51560_7+51607delGGGAGGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGA		RORB	ENSG00000198963.11	transcript	ENST00000376896.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr9	TogoVar
RP1L1_chr8_10601349_10660143	10608190	CTTCCTCT others(41): Show CTTCCTCTTCTGCCTCCTGGGACTCTATAACTTCTGACTCTGGCTGGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp2 HG02622.hp2 HG02717.hp1 others(4): Show HG02145.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG03130.hp1	a0035 a0075 a0079 others(3): Show a0035 a0075 a0079 a0096 a0097 a0098	a0035c0053 a0075c0167 a0079c0169 others(3): Show a0035c0053 a0075c0167 a0079c0169 a0096c0200 a0097c0201 a0098c0199	a0035c0053t0015 a0035c0053t0016 a0075c0167t0016 others(4): Show a0035c0053t0015 a0035c0053t0016 a0075c0167t0016 a0079c0169t0013 a0096c0200t0013 a0097c0201t0015 a0098c0199t0011	a0035c0053t0015g0408 a0035c0053t0016g0384 a0075c0167t0016g0405 others(4): Show a0035c0053t0015g0408 a0035c0053t0016g0384 a0075c0167t0016g0405 a0079c0169t0013g0245 a0096c0200t0013g0252 a0097c0201t0015g0334 a0098c0199t0011g0028	7	414	0.0169	-48	c.586 others(57): Show c.5860_5907delACCCAGCCAGAGTCAGAAGTTATAGAGTCCCAGGAG GCAGAAGAGGAA	p.Thr others(15): Show p.Thr1954_Glu1969del	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	6172/8014	5860/7203	1954/2400			chr8	TogoVar
RP1L1_chr8_10601349_10660143	10610094	CCCTCTTC others(41): Show CCCTCTTCTTGCAGCCCTTCTTCTGTTTTAGTTTCCTCTAACTGCACCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02258.hp1 HG03579.hp1 NA18939.hp2 others(9): Show HG02258.hp1 HG03579.hp1 NA18939.hp2 NA18945.hp1 NA18969.hp1 NA18994.hp1 NA18999.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp2 NA19057.hp2 NA19070.hp1	a0008 a0010 a0083 others(2): Show a0008 a0010 a0083 a0088 a0139	a0008c0138 a0010c0010 a0010c0049 others(3): Show a0008c0138 a0010c0010 a0010c0049 a0083c0179 a0088c0160 a0139c0076	a0008c0138t0003 a0010c0010t0003 a0010c0010t0006 others(5): Show a0008c0138t0003 a0010c0010t0003 a0010c0010t0006 a0010c0049t0003 a0010c0049t0006 a0083c0179t0003 a0088c0160t0003 a0139c0076t0003	a0008c0138t0003g0346 a0010c0010t0003g0332 a0010c0010t0003g0336 others(9): Show a0008c0138t0003g0346 a0010c0010t0003g0332 a0010c0010t0003g0336 a0010c0010t0003g0337 a0010c0010t0003g0339 a0010c0010t0003g0348 a0010c0010t0006g0013 a0010c0049t0003g0349 a0010c0049t0006g0014 a0083c0179t0003g0364 a0088c0160t0003g0392 a0139c0076t0003g0377	12	414	0.0290	-48	c.395 others(57): Show c.3956_4003delCGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGC TGCAAGAAGAGG	p.Ala others(15): Show p.Ala1319_Glu1334del	RP1L1	ENSG00000183638.6	transcript	ENST00000382483.4	protein_coding	4/4	4268/8014	3956/7203	1319/2400			chr8	TogoVar
RPA3_chr7_7631518_7723607	7673310	TAGCAGCA others(41): Show TAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0050 a0001c0001t0004g0050	1	308	0.0033	-48	c.-75 others(69): Show c.-758+12472_-758+12519delGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTGCTGCTGCT		RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7						chr7	TogoVar
RPH3AL_chr17_207389_357807	307187	GCGGCAGG others(41): Show GCGGCAGGTCCTCCCCACGGCAGGTCCATCCCACGGCAGGTCCATCCCA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0056 a0001c0001t0011g0056	1	133	0.0075	-48	c.351 others(67): Show c.351+12185_351+12232delTGGGATGGACCTGCCGTGGGATGGAC CTGCCGTGGGGAGGACCTGCCG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPH3AL_chr17_207389_357807	307235	ACGGCAGG others(41): Show ACGGCAGGTCCTCCCCACGGCAGGTCCATCCCACGGCAGGTCCATCCCG	A A	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	133	0.0075	-48	c.351 others(67): Show c.351+12137_351+12184delCGGGATGGACCTGCCGTGGGATGGAC CTGCCGTGGGGAGGACCTGCCG		RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9						chr17	TogoVar
RPP40_chr6_4989717_5009037	5000832	ATGCAGAA others(41): Show ATGCAGAAGACCAAGCATGCAGAAGACCAAGCATGCAGAAGACAAAGCT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp1 HG02572.hp2 others(4): Show HG01109.hp1 HG02257.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG03130.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0006 a0001c0005t0009 a0001c0005t0003 a0001c0005t0006 a0001c0005t0009	a0001c0005t0003g0034 a0001c0005t0006g0025 a0001c0005t0006g0132 others(1): Show a0001c0005t0003g0034 a0001c0005t0006g0025 a0001c0005t0006g0132 a0001c0005t0009g0043	7	360	0.0194	-48	c.269 others(63): Show c.269-249_269-202delAGCTTTGTCTTCTGCATGCTTGGTCTTCTG CATGCTTGGTCTTCTGCA		RPP40	ENSG00000124787.14	transcript	ENST00000380051.7	protein_coding	2/7						chr6	TogoVar
RPS3_chr11_75394518_75411907	75410095	TGGGCGGC others(41): Show TGGGCGGCTGGCCGGGCGGGGGGCTGACCCCACACCTCCCTCCCGGACG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02723.hp2 HG02258.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	412	0.0049	-48	c.44 others(59): Show c.4486_*4533delGGGCGGCTGGCCGGGCGGGGGGCTGACCCCACAC CTCCCTCCCGGACG		RPS3	ENSG00000149273.15	transcript	ENST00000531188.6	protein_coding					3189		chr11	TogoVar
RPS6KC1_chr1_213046241_213279774	213119425	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	330	0.0030	-48	c.472 others(65): Show c.472+2042_472+2089delATATATATATATATATATATATATATAT ATATATATATATATATATAT		RPS6KC1	ENSG00000136643.12	transcript	ENST00000366960.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
RPUSD1_chr16_779974_793381	786973	GGCCCAGG others(41): Show GGCCCAGGCCCACCCCAACGCACGATGCCCGCCCGGTGGGTCCCTGCCT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0059 a0003c0003t0007g0059	1	410	0.0024	-48	c.409 others(61): Show c.409+56_410-46delAGGCAGGGACCCACCGGGCGGGCATCGTGCGT TGGGGTGGGCCTGGGC		RPUSD1	ENSG00000007376.8	transcript	ENST00000007264.7	protein_coding	4/5						chr16	TogoVar
RRAGB_chrX_55712749_55763774	55749337	CCAGCCGC others(41): Show CCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCGCCCGGT	C C	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	276	0.0036	-48	c.517 others(65): Show c.517-1753_517-1706delATCCGGGAGGGAGGTGGGGGGGTCAGCC CCCGCCCGGTCAGCCGCCCC		RRAGB	ENSG00000083750.13	transcript	ENST00000374941.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
RRM1_chr11_4089799_4143932	4137372	AGACGGGG others(41): Show AGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp2 HG01109.hp2 others(42): Show HG00558.hp2 HG00741.hp2 HG01109.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18941.hp1 NA18949.hp2 NA18951.hp2 NA18955.hp1 NA18961.hp1 NA18969.hp1 NA18975.hp1 NA18986.hp2 NA18999.hp1 NA19000.hp2 NA19043.hp2 NA19056.hp1 NA19063.hp2 NA19084.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(41): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0185 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265	45	368	0.1223	-48	c.219 others(65): Show c.2191-806_2191-759delAGGCGGGGGGCTGACCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCC		RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
RRM1_chr11_4089799_4143932	4137389	AGGCGGGG others(41): Show AGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0267 a0001c0001t0005g0267	1	368	0.0027	-48	c.219 others(65): Show c.2191-794_2191-747delGACCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCT		RRM1	ENSG00000167325.15	transcript	ENST00000300738.10	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr11	TogoVar
RSAD1_chr17_50473860_50490974	50476060	TGCCTGCC others(41): Show TGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCCCAGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG01346.hp2 HG00741.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0007 a0001c0003t0001 a0001c0003t0007	a0001c0003t0001g0014 a0001c0003t0007g0053 a0001c0003t0001g0014 a0001c0003t0007g0053	2	382	0.0052	-48	c.-28 others(59): Show c.-2824_-2777delGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCC TTACCTCCCAGCGC		RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding					2799		chr17	TogoVar
RSPH14_chr22_23054415_23146990	23130059	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02080.hp1 HG02735.hp2 others(2): Show HG01975.hp2 HG02080.hp1 HG02735.hp2 HG03704.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0217 others(2): Show a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0217 a0001c0001t0001g0229 a0001c0001t0001g0230	5	314	0.0159	-48	c.421 others(65): Show c.421+3919_421+3966delCTTTCTTTCTTTCTTTCTTTCTTCCTTT CTTTCTTTCTTTCTTTCTTT		RSPH14	ENSG00000100218.12	transcript	ENST00000216036.9	protein_coding	4/6						chr22	TogoVar

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Search Results (Total: 2076 hits)