Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RHBDL2_chr1_38880807_38946830	38882300	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(84): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00642.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01515.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02056.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18995.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19054.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA20805.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0013 a0002c0002t0002 a0002c0002t0004 a0002c0002t0013	a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0007 others(82): Show a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0025 a0002c0002t0002g0030 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0038 a0002c0002t0002g0047 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0065 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0084 a0002c0002t0002g0089 a0002c0002t0002g0093 a0002c0002t0002g0115 a0002c0002t0002g0119 a0002c0002t0002g0123 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0132 a0002c0002t0002g0137 a0002c0002t0002g0145 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0157 a0002c0002t0002g0160 a0002c0002t0002g0162 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0172 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0222 a0002c0002t0002g0225 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0235 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0269 a0002c0002t0002g0273 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0288 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0301 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0318 a0002c0002t0002g0338 a0002c0002t0002g0340 a0002c0002t0002g0343 a0002c0002t0002g0346 a0002c0002t0004g0351 a0002c0002t0004g0352 a0002c0002t0004g0353 a0002c0002t0004g0355 a0002c0002t0013g0357	87	364	0.2390	-31	c.41 others(42): Show c.4173_*4203delATATATATATATATATATATATATATATATA	RHBDL2	ENSG00000158315.11	transcript	ENST00000372990.6	protein_coding		3506		chr1	TogoVar
RHOC_chr1_112696131_112712127	112706433	ACACACAC others(24): Show ACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	428	0.0023	-31	c.-77 others(46): Show c.-77+614_-77+644delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT G	RHOC	ENSG00000155366.17	transcript	ENST00000339083.12	protein_coding	1/5			chr1	TogoVar
RHPN2_chr19_32973592_33069888	32988612	CCCTTCCT others(24): Show CCCTTCCTTGTCCTGGTGCTCTTGCCAAAAGG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00673.hp2 HG01069.hp2 others(75): Show HG00323.hp2 HG00673.hp2 HG01069.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp1 HG01952.hp1 HG02015.hp2 HG02055.hp2 HG02083.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02895.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18948.hp1 NA18952.hp2 NA18959.hp2 NA18961.hp1 NA18981.hp1 NA19010.hp1 NA19011.hp2 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA19088.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0007 a0008 a0012	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0025 a0001c0028 a0001c0033 a0001c0037 a0002c0022 a0004c0009 a0005c0011 a0007c0012 a0008c0016 a0012c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0008 a0001c0025t0001 a0001c0028t0009 a0001c0033t0002 a0001c0037t0002 a0002c0022t0002 a0004c0009t0002 a0005c0011t0001 a0005c0011t0003 a0007c0012t0002 a0007c0012t0003 a0008c0016t0002 a0012c0031t0003	a0001c0001t0001g0022 a0001c0001t0001g0110 a0001c0001t0001g0257 others(75): Show a0001c0001t0001g0022 a0001c0001t0001g0110 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0097 a0001c0001t0003g0007 a0001c0001t0003g0018 a0001c0001t0003g0058 a0001c0001t0003g0079 a0001c0001t0003g0089 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0150 a0001c0001t0003g0160 a0001c0001t0003g0233 a0001c0001t0003g0245 a0001c0001t0003g0254 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0264 a0001c0001t0004g0129 a0001c0002t0001g0182 a0001c0003t0002g0016 a0001c0003t0002g0025 a0001c0003t0002g0059 a0001c0003t0002g0061 a0001c0003t0002g0062 a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0099 a0001c0003t0002g0131 a0001c0003t0002g0235 a0001c0003t0002g0253 a0001c0003t0002g0290 a0001c0003t0002g0311 a0001c0003t0002g0315 a0001c0003t0002g0316 a0001c0003t0002g0318 a0001c0003t0002g0320 a0001c0003t0002g0321 a0001c0003t0002g0323 a0001c0003t0002g0324 a0001c0003t0002g0325 a0001c0003t0003g0015 a0001c0003t0004g0313 a0001c0003t0008g0001 a0001c0025t0001g0134 a0001c0028t0009g0166 a0001c0033t0002g0228 a0001c0037t0002g0027 a0002c0022t0002g0117 a0004c0009t0002g0164 a0004c0009t0002g0169 a0004c0009t0002g0179 a0004c0009t0002g0180 a0004c0009t0002g0181 a0005c0011t0001g0084 a0005c0011t0001g0168 a0005c0011t0001g0170 a0005c0011t0001g0171 a0005c0011t0003g0136 a0005c0011t0003g0141 a0007c0012t0002g0017 a0007c0012t0002g0092 a0007c0012t0002g0132 a0007c0012t0002g0135 a0007c0012t0002g0137 a0007c0012t0003g0165 a0008c0016t0002g0188 a0008c0016t0002g0207 a0012c0031t0003g0162	78	326	0.2393	-31	c.180 others(50): Show c.1800+1871_1800+1901delCCTTTTGGCAAGAGCACCAGGACAAG GAAGG	RHPN2	ENSG00000131941.8	transcript	ENST00000254260.8	protein_coding	14/14			chr19	TogoVar
RIMBP3C_chr22_21540666_21556461	21545808	GAAATGGC others(24): Show GAAATGGCTTCTCAGACTCTCAGGGGTTGGCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0007 a0005c0004t0007	a0005c0004t0007g0000 a0005c0004t0007g0000	1	200	0.0050	-31	c.21 others(40): Show c.218_*248delAGCCAACCCCTGAGAGTCTGAGAAGCCATTT	RIMBP3C	ENSG00000183246.8	transcript	ENST00000433039.2	protein_coding	1/1	218		chr22	TogoVar
RIMKLA_chr1_42375792_42429232	42428399	AAGCTAGA others(24): Show AAGCTAGAAATCAATAGCAAAGAAGTTGTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02055.hp2 others(12): Show HG01243.hp2 HG01884.hp1 HG02055.hp2 HG02257.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0019 a0001c0001t0081 a0001c0001t0082 others(8): Show a0001c0001t0019 a0001c0001t0081 a0001c0001t0082 a0001c0001t0085 a0001c0002t0044 a0001c0002t0049 a0001c0002t0050 a0001c0002t0062 a0001c0002t0063 a0001c0002t0078 a0001c0005t0028	a0001c0001t0019g0162 a0001c0001t0019g0164 a0001c0001t0019g0171 others(12): Show a0001c0001t0019g0162 a0001c0001t0019g0164 a0001c0001t0019g0171 a0001c0001t0019g0172 a0001c0001t0081g0165 a0001c0001t0082g0167 a0001c0001t0085g0110 a0001c0002t0044g0109 a0001c0002t0049g0087 a0001c0002t0050g0088 a0001c0002t0062g0106 a0001c0002t0063g0107 a0001c0002t0078g0108 a0001c0005t0028g0176 a0001c0005t0028g0177	15	356	0.0421	-31	c.13 others(44): Show c.13426_*13456delAGCTAGAAATCAATAGCAAAGAAGTTGTTTT	RIMKLA	ENSG00000177181.15	transcript	ENST00000431473.4	protein_coding		4168		chr1	TogoVar
RIN2_chr20_19753258_20007456	19844661	TTCTTCTT others(24): Show TTCTTCTTCCTTCTTCTTCTTCTTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18942.hp2 HG00597.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0009 a0001c0001t0003 a0001c0002t0009	a0001c0001t0003g0066 a0001c0002t0009g0068 a0001c0001t0003g0066 a0001c0002t0009g0068	2	276	0.0073	-31	c.-36 others(50): Show c.-36-44899_-36-44869delTTCCTTCTTCTTCTTCTTCCTCTTCC TCTTC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN2_chr20_19753258_20007456	19844667	TTCCTTCT others(24): Show TTCCTTCTTCTTCTTCTTCCTCTTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02451.hp2 HG02717.hp2 others(5): Show HG02155.hp2 HG02451.hp2 HG02717.hp2 HG03139.hp1 HG03540.hp1 HG03834.hp2 HG04184.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 others(1): Show a0001c0001 a0001c0007 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0007t0012 a0002c0003t0002 a0002c0004t0020	a0001c0001t0002g0171 a0001c0001t0005g0008 a0001c0001t0008g0160 others(5): Show a0001c0001t0002g0171 a0001c0001t0005g0008 a0001c0001t0008g0160 a0001c0001t0008g0247 a0001c0001t0009g0159 a0001c0007t0012g0168 a0002c0003t0002g0267 a0002c0004t0020g0010	8	276	0.0290	-31	c.-36 others(50): Show c.-36-44896_-36-44866delCTTCTTCTTCTTCTTCCTCTTCCTCT TCCTC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIN2_chr20_19753258_20007456	19844670	CTTCTTCT others(24): Show CTTCTTCTTCTTCTTCCTCTTCCTCTTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00741.hp2 others(21): Show HG00544.hp2 HG00621.hp2 HG00741.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01433.hp1 HG01496.hp1 HG01934.hp2 HG01978.hp2 HG02074.hp2 HG02523.hp2 NA18747.hp1 NA18747.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18981.hp2 NA18992.hp2 NA19010.hp2 NA19066.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0036 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0010 a0001c0002t0018 a0002c0003t0015 a0002c0004t0003	a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0004g0077 others(21): Show a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0004g0077 a0001c0001t0004g0085 a0001c0001t0004g0210 a0001c0001t0004g0224 a0001c0001t0006g0001 a0001c0001t0006g0184 a0001c0001t0036g0090 a0001c0002t0001g0061 a0001c0002t0001g0096 a0001c0002t0001g0099 a0001c0002t0001g0268 a0001c0002t0003g0060 a0001c0002t0003g0064 a0001c0002t0003g0217 a0001c0002t0006g0021 a0001c0002t0006g0081 a0001c0002t0010g0071 a0001c0002t0010g0124 a0001c0002t0018g0207 a0001c0002t0018g0208 a0002c0003t0015g0040 a0002c0004t0003g0033	24	276	0.0870	-31	c.-36 others(50): Show c.-36-44894_-36-44864delTCTTCTTCTTCTTCCTCTTCCTCTTC CTCTT	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
RIPK1_chr6_3063494_3120187	3081860	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19058.hp2 NA18984.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0285 a0001c0001t0001g0182 a0001c0001t0001g0285	2	340	0.0059	-31	c.459 others(46): Show c.459+759_459+789delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090795	GCCTACCT others(24): Show GCCTACCTGCCGCACCTAGTAACCGCAGCGCA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03927.hp1 NA18944.hp1 others(1): Show HG03654.hp2 HG03927.hp1 NA18944.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0170 a0001c0001t0001g0212 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0170 a0001c0001t0001g0212 a0001c0001t0001g0258	4	340	0.0118	-31	c.915 others(48): Show c.915+1166_915+1196delCGCACCTACCTGCCGCACCTAGTAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090854	AGTACCTA others(24): Show AGTACCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0099 a0001c0003t0007g0099	1	340	0.0029	-31	c.915 others(48): Show c.915+1199_915+1229delTACCTACCTGCCGCACCTAGTAACCGCA GCG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090857	ACCTACCT others(24): Show ACCTACCTGCCGCACCTAGTAACCGCAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	340	0.0029	-31	c.915 others(48): Show c.915+1414_915+1444delCGCGCCTACCTGCCGCACCTAGTAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091229	GCCTACCT others(24): Show GCCTACCTGCCGCACCTAGTAACCGCAGAGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00642.hp2 others(95): Show HG00099.hp2 HG00140.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp2 HG02970.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp2 NA18983.hp2 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19010.hp1 NA19011.hp1 NA19056.hp1 NA19058.hp1 NA19064.hp1 NA19064.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19090.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0002c0005t0001 a0003c0007t0001	a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0046 others(95): Show a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0227 a0001c0001t0001g0241 a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0316 a0001c0001t0001g0320 a0001c0001t0001g0324 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0146 a0001c0001t0002g0181 a0001c0001t0002g0225 a0001c0001t0002g0295 a0001c0001t0002g0301 a0001c0001t0002g0315 a0001c0001t0005g0050 a0001c0001t0005g0139 a0001c0001t0005g0141 a0001c0001t0005g0172 a0001c0001t0005g0217 a0001c0001t0005g0268 a0001c0001t0005g0274 a0001c0001t0008g0317 a0001c0001t0010g0111 a0001c0001t0017g0308 a0001c0001t0018g0290 a0001c0001t0019g0195 a0001c0001t0027g0169 a0001c0002t0001g0041 a0001c0002t0001g0072 a0001c0002t0001g0130 a0001c0002t0001g0145 a0001c0002t0001g0240 a0001c0002t0001g0257 a0001c0002t0002g0009 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0051 a0001c0002t0002g0069 a0001c0002t0002g0083 a0001c0002t0002g0110 a0001c0002t0002g0131 a0001c0002t0002g0133 a0001c0002t0002g0144 a0001c0002t0002g0167 a0001c0002t0002g0173 a0001c0002t0002g0224 a0001c0002t0002g0239 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0272 a0001c0002t0002g0289 a0001c0002t0002g0291 a0002c0005t0001g0005 a0003c0007t0001g0300	98	340	0.2882	-31	c.915 others(48): Show c.915+1600_915+1630delAGTACCTACCTGCCGCACCTAGTAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091260	ACCTACCT others(24): Show ACCTACCTGCCGCACCTAGTAACCGCAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA19000.hp1 NA19002.hp2 HG00280.hp2 NA19000.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0106 a0001c0001t0003g0244 a0001c0001t0005g0166 a0001c0001t0001g0106 a0001c0001t0003g0244 a0001c0001t0005g0166	3	340	0.0088	-31	c.915 others(48): Show c.915+1848_915+1878delCGCGCCTACCTGCCGCACCTAGTAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091505	CGCGCCTA others(24): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03654.hp2 HG02280.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0129 a0001c0001t0001g0080 a0001c0001t0001g0129	2	340	0.0059	-31	c.915 others(48): Show c.915+1972_915+2002delAGCGCCTACCTGCCGCACCTAGTAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091629	AGCGCCTA others(24): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01167.hp1 HG01361.hp2 others(12): Show HG00099.hp2 HG01167.hp1 HG01361.hp2 HG01516.hp2 HG01928.hp1 HG02083.hp2 HG02258.hp1 HG02293.hp2 HG02559.hp2 HG03017.hp2 HG03710.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0075 a0001c0001t0001g0076 others(12): Show a0001c0001t0001g0010 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0162 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0255 a0001c0001t0001g0309 a0001c0001t0001g0311 a0001c0002t0001g0101	15	340	0.0441	-31	c.915 others(48): Show c.915+2158_915+2188delCGCGCCTACCTGCCGCACCTAGTAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091815	CGCGCCTA others(24): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18980.hp1 NA19043.hp1 HG02970.hp1 NA18980.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0017 a0001c0002t0001g0130 a0001c0002t0001g0207 a0001c0001t0001g0017 a0001c0002t0001g0130 a0001c0002t0001g0207	3	340	0.0088	-31	c.915 others(48): Show c.915+2189_915+2219delAGCGCCTACCTGCCGCACCTAGTAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091908	CGCGCCTA others(24): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp2 HG03516.hp2 others(1): Show HG00741.hp1 HG01175.hp2 HG03516.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008	a0001c0001t0001g0281 a0001c0002t0001g0240 a0001c0002t0002g0062 others(1): Show a0001c0001t0001g0281 a0001c0002t0001g0240 a0001c0002t0002g0062 a0001c0002t0008g0238	4	340	0.0118	-31	c.915 others(48): Show c.915+2375_915+2405delAGCGCCTACCTGCCGCACCTAGTAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092032	AGCGCCTA others(24): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02165.hp1 NA18956.hp2 HG01358.hp2 HG02165.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0302 a0001c0001t0001g0337 a0001c0001t0001g0148 a0001c0001t0001g0302 a0001c0001t0001g0337	3	340	0.0088	-31	c.915 others(48): Show c.915+2530_915+2560delCGCGCCTACCTGCCGCACCTAGTAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092209	TAACCGCA others(24): Show TAACCGCAGAGCGCCTACCTGCCGCACCTCGG	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 NA19010.hp2 HG01515.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0271 a0001c0001t0001g0048 a0001c0001t0001g0271	2	340	0.0059	-31	c.915 others(48): Show c.915+2778_915+2808delAGCGCCTACCTGCCGCACCTCGGAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092435	AGCGCCTA others(24): Show AGCGCCTACCTGCCGCACCTCGGAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 NA18956.hp1 NA18992.hp2 others(1): Show HG03669.hp1 NA18956.hp1 NA18992.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0020 a0001c0001t0001g0216 a0001c0002t0001g0015 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0216 a0001c0002t0001g0015 a0001c0002t0001g0115	4	340	0.0118	-31	c.915 others(48): Show c.915+2922_915+2952delCGGAACCGCAGCGCGCCTACCTGCCGCA CCT	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092581	GAACCGCA others(24): Show GAACCGCAGCGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	340	0.0029	-31	c.915 others(48): Show c.915+2964_915+2994delCGCGCCTACCTGCCGCACCTAGTAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093201	TAACCGCA others(24): Show TAACCGCAGAGCGCCTACCTGCCGCACCTCGG	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18944.hp1 HG03704.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0170 a0001c0001t0001g0038 a0001c0001t0001g0170	2	340	0.0059	-31	c.915 others(48): Show c.915+3573_915+3603delCGGAACCGCAGAGCGCCTACCTGCCGCA CCT	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093230	CGGAACCG others(24): Show CGGAACCGCAGAGCGCCTACCTGCCGCACCTA	C C	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	340	0.0029	-31	c.915 others(48): Show c.915+3637_915+3667delGAACCGCAGAGCGCCTACCTGCCGCACC TAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093418	GAACCGCA others(24): Show GAACCGCAGAGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	HG03490.hp2 NA19083.hp2 HG03490.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0306 a0001c0001t0001g0113 a0001c0001t0001g0306	2	340	0.0059	-31	c.915 others(48): Show c.915+3925_915+3955delAGCGCCTACCTGCCGCACCTAGTAACCG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093582	AGCGCCTA others(24): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp2 others(48): Show HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00673.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01358.hp2 HG01515.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02027.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02300.hp1 HG02698.hp2 HG03017.hp1 HG03669.hp2 HG03704.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp2 NA18946.hp1 NA18951.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19011.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19068.hp2 NA19081.hp1 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0002t0021	a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0054 others(48): Show a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0054 a0001c0001t0001g0068 a0001c0001t0001g0086 a0001c0001t0001g0100 a0001c0001t0001g0151 a0001c0001t0001g0182 a0001c0001t0001g0204 a0001c0001t0001g0227 a0001c0001t0001g0269 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0337 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0112 a0001c0001t0002g0146 a0001c0001t0002g0225 a0001c0001t0002g0295 a0001c0001t0003g0242 a0001c0001t0005g0050 a0001c0001t0005g0137 a0001c0001t0005g0166 a0001c0001t0005g0217 a0001c0001t0018g0290 a0001c0002t0001g0041 a0001c0002t0001g0072 a0001c0002t0001g0210 a0001c0002t0002g0009 a0001c0002t0002g0019 a0001c0002t0002g0051 a0001c0002t0002g0062 a0001c0002t0002g0069 a0001c0002t0002g0082 a0001c0002t0002g0084 a0001c0002t0002g0104 a0001c0002t0002g0135 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0152 a0001c0002t0002g0167 a0001c0002t0002g0173 a0001c0002t0002g0224 a0001c0002t0002g0239 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0272 a0001c0002t0002g0289 a0001c0002t0021g0061	51	340	0.1500	-31	c.915 others(48): Show c.915+4292_915+4322delCGCAGCGCGCCTACCTGCCGCACCTAGT AAC	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093954	CGCGCCTA others(24): Show CGCGCCTACCTGCCGCACCTAGTAACTGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01361.hp2 HG02300.hp2 others(1): Show HG00099.hp2 HG01361.hp2 HG02300.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0010 a0001c0001t0001g0199 a0001c0001t0001g0284 others(1): Show a0001c0001t0001g0010 a0001c0001t0001g0199 a0001c0001t0001g0284 a0001c0001t0008g0317	4	340	0.0118	-31	c.915 others(48): Show c.915+4328_915+4358delAGCGCCTACCTGCCGCACCTAGTAACTG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093985	AGCGCCTA others(24): Show AGCGCCTACCTGCCGCACCTAGTAACTGCAGC	A A	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	340	0.0029	-31	c.915 others(48): Show c.915+4401_915+4431delGCCGCACCTAGTAACTGCAGCGCGCCTA CCT	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3094060	CGCACCTA others(24): Show CGCACCTAGTAACTGCAGCGCGCCTACCTCCT	C C	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	340	0.0029	-31	c.915 others(48): Show c.915+4421_915+4451delCGCGCCTACCTCCTGCACCTAGTAACTG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3094153	CGCACCTA others(24): Show CGCACCTAGTAACTGTAGCGTACCTACCTGCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02258.hp2 others(12): Show HG01109.hp1 HG01891.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02896.hp1 HG02976.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp2 HG03654.hp2 NA18944.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0002t0004 a0001c0002t0022	a0001c0001t0001g0008 a0001c0001t0001g0080 a0001c0001t0001g0170 others(12): Show a0001c0001t0001g0008 a0001c0001t0001g0080 a0001c0001t0001g0170 a0001c0001t0001g0232 a0001c0001t0001g0256 a0001c0001t0001g0331 a0001c0001t0004g0004 a0001c0001t0008g0237 a0001c0001t0011g0327 a0001c0001t0011g0328 a0001c0001t0012g0209 a0001c0001t0012g0330 a0001c0002t0004g0047 a0001c0002t0004g0095 a0001c0002t0022g0208	15	340	0.0441	-31	c.915 others(48): Show c.915+4511_915+4541delTAGCGTACCTACCTGCTGCACCTAGTAA CTG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3094171	CGTACCTA others(24): Show CGTACCTACCTGCTGCACCTAGTAACTGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	340	0.0029	-31	c.915 others(48): Show c.915+4545_915+4575delAGTACCTACCTGCTGCACCTAGTAACTG CAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPOR2_chr6_24799284_24940960	24926554	CATGAGCC others(24): Show CATGAGCCAGAGGTACCTCTATATTTTCAGGA	C C	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0184 a0001c0001t0024g0184	1	328	0.0031	-31	c.61+ others(46): Show c.61+9253_61+9283delTCCTGAAAATATAGAGGTACCTCTGGCTCA T	RIPOR2	ENSG00000111913.20	transcript	ENST00000643898.2	protein_coding	1/21			chr6	TogoVar
RIPPLY3_chr21_37001702_37024662	37023498	TCTCCACT others(24): Show TCTCCACTCTGCTTTCCACAATAGTTGAACTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	434	0.0023	-31	c.52 others(42): Show c.5292_*5322delCTCCACTCTGCTTTCCACAATAGTTGAACTA	RIPPLY3	ENSG00000183145.9	transcript	ENST00000329553.3	protein_coding		3837		chr21	TogoVar
RIT2_chr18_42738227_43120685	43093202	GAAAATAG others(24): Show GAAAATAGAGCCCTAAAGTATTGAAGGCTACT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02630.hp2 others(1): Show HG01884.hp2 HG02451.hp2 HG02630.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012	4	240	0.0167	-31	c.103 others(50): Show c.103+22184_103+22214delAGTAGCCTTCAATACTTTAGGGCTCT ATTTT	RIT2	ENSG00000152214.14	transcript	ENST00000326695.10	protein_coding	1/4			chr18	TogoVar
RMDN1_chr8_86467349_86513686	86490578	AGCCAGTC others(24): Show AGCCAGTCAGACCCATTTTTGGCTTCTGAACG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp2 HG03195.hp2 others(1): Show HG02145.hp2 HG02922.hp2 HG03195.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0201 a0001c0001t0009g0202 a0001c0001t0009g0041 a0001c0001t0009g0201 a0001c0001t0009g0202	4	368	0.0109	-31	c.248 others(48): Show c.248-1970_248-1940delCGTTCAGAAGCCAAAAATGGGTCTGACT GGC	RMDN1	ENSG00000176623.12	transcript	ENST00000406452.8	protein_coding	2/9			chr8	TogoVar
RNF10_chr12_120529356_120582588	120553038	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02280.hp1 others(9): Show HG02055.hp1 HG02145.hp1 HG02280.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp1 HG02970.hp2 HG03195.hp2 HG03453.hp1 HG03516.hp1 HG03516.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0246 a0001c0001t0001g0247 others(9): Show a0001c0001t0001g0114 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0261 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280	12	372	0.0323	-31	c.554 others(46): Show c.554+373_554+403delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	RNF10	ENSG00000022840.17	transcript	ENST00000325954.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNF11_chr1_51231273_51278447	51264270	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0053 a0001c0001t0023g0053	1	274	0.0037	-31	c.124 others(48): Show c.124-5684_124-5654delAAAAAAAAAAAAAAAAATATATATATAT ATA	RNF11	ENSG00000123091.5	transcript	ENST00000242719.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
RNF126_chr19_642526_668214	667201	TCACGTCC others(24): Show TCACGTCCCAGGCAGACCAAGCCCAGGTGGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03098.hp1 HG02809.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0072 a0001c0002t0002g0038 a0001c0002t0001g0072 a0001c0002t0002g0038	2	434	0.0046	-31	c.-41 others(42): Show c.-4111_-4081delGTCCACCTGGGCTTGGTCTGCCTGGGACGTG	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		3988		chr19	TogoVar
RNF126_chr19_642526_668214	667315	TCCCAGGC others(24): Show TCCCAGGCGGACCACGTCCCAGGCGGACCAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01074.hp2 HG01192.hp1 others(24): Show HG00733.hp2 HG01074.hp2 HG01192.hp1 HG01243.hp1 HG01884.hp1 HG01978.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG03098.hp2 HG03209.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03834.hp1 HG04184.hp2 HG04228.hp2 NA18906.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0005 a0001c0001 a0001c0002 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0002c0005t0001	a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0391 others(24): Show a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0391 a0001c0001t0001g0398 a0001c0001t0001g0399 a0001c0001t0001g0400 a0001c0001t0001g0402 a0001c0001t0001g0403 a0001c0001t0003g0286 a0001c0002t0001g0020 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0287 a0001c0002t0001g0389 a0001c0002t0001g0390 a0001c0002t0001g0393 a0001c0002t0001g0395 a0001c0002t0001g0396 a0001c0002t0001g0401 a0001c0002t0001g0404 a0001c0002t0001g0405 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0069 a0002c0005t0001g0271 a0002c0005t0001g0272	27	434	0.0622	-31	c.-42 others(42): Show c.-4225_-4195delCTTGGTCCGCCTGGGACGTGGTCCGCCTGGG	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4102		chr19	TogoVar
RNF126_chr19_642526_668214	667369	CGGACCAC others(24): Show CGGACCACGTCCCAGGCGGACCAAGCCCAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02145.hp1 others(10): Show HG01891.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp2 HG03195.hp2 HG03471.hp2 HG03486.hp1 NA19030.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0065 a0001c0001t0001g0090 a0001c0001t0001g0093 others(10): Show a0001c0001t0001g0065 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0265 a0001c0001t0001g0279 a0001c0001t0001g0407 a0001c0001t0005g0063 a0001c0001t0005g0381 a0001c0001t0005g0382 a0001c0001t0005g0383 a0001c0001t0008g0037 a0001c0001t0011g0064 a0001c0002t0001g0068	13	434	0.0300	-31	c.-42 others(42): Show c.-4279_-4249delACCTGGGCTTGGTCCGCCTGGGACGTGGTCC	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4156		chr19	TogoVar
RNF126_chr19_642526_668214	667409	TCCCAGGC others(24): Show TCCCAGGCGGACCACGTCCCAGGCGGACCAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18981.hp1 NA18955.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0208 a0001c0001t0001g0210	2	434	0.0046	-31	c.-43 others(42): Show c.-4319_-4289delCTTGGTCCGCCTGGGACGTGGTCCGCCTGGG	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4196		chr19	TogoVar
RNF145_chr5_159152409_159214553	159165703	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	394	0.0025	-31	c.112 others(50): Show c.1122-2655_1122-2625delATTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RNF145	ENSG00000145860.13	transcript	ENST00000424310.7	protein_coding	8/10			chr5	TogoVar
RNF148_chr7_122696668_122707922	122706313	AATATATA others(24): Show AATATATATATATGCTTATATATTCAAGGAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	-31	c.-35 others(42): Show c.-3594_-3564delATTCCTTGAATATATAAGCATATATATATAT	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		3392		chr7	TogoVar
RNF151_chr16_1961856_1973949	1971811	GCTGGCTA others(24): Show GCTGGCTACAAATGCCTTTTTATACTGGTATC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	432	0.0023	-31	c.28 others(42): Show c.2887_*2917delCTGGCTACAAATGCCTTTTTATACTGGTATC	RNF151	ENSG00000179580.10	transcript	ENST00000569714.6	protein_coding		2863		chr16	TogoVar
RNF17_chr13_24759169_24884921	24813793	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0413 a0005c0005t0001g0413	1	426	0.0024	-31	c.209 others(50): Show c.2091+9385_2091+9415delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding	15/35		INFO_REALIGN_3_PRIME	chr13	TogoVar
RNF19A_chr8_100252067_100314953	100313674	CTCAGGCT others(24): Show CTCAGGCTGTTCTGTGGATCAGATTAAGGCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	350	0.0029	-31	c.-39 others(42): Show c.-3932_-3902delCTGCCTTAATCTGATCCACAGAACAGCCTGA	RNF19A	ENSG00000034677.13	transcript	ENST00000341084.7	protein_coding		3722		chr8	TogoVar
RNF220_chr1_44400255_44656723	44501575	AAGCAATG others(24): Show AAGCAATGCGGCCAAGCAGGACAATTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02895.hp2 HG02896.hp1 others(5): Show HG02257.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0060 a0001c0001t0001g0088 a0001c0001t0001g0094 others(5): Show a0001c0001t0001g0060 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0174 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0171 a0001c0001t0008g0182	8	218	0.0367	-31	c.625 others(50): Show c.625+88854_625+88884delAGCAATGCGGCCAAGCAGGACAATTT CTTTC	RNF220	ENSG00000187147.19	transcript	ENST00000361799.7	protein_coding	2/14			chr1	TogoVar
RNFT2_chr12_116733315_116858631	116789458	ATGGATGG others(24): Show ATGGATGGGTGGATGGGTAAATGGGAGGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	268	0.0037	-31	c.882 others(50): Show c.882+10175_882+10205delGATGGGTGGATGGGTAAATGGGAGGA GAGTG	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
RNGTT_chr6_88604897_88968618	88866304	TTACACAC others(24): Show TTACACACGTTTATACCCCACCTCCAGTGCTG	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	220	0.0046	-31	c.897 others(50): Show c.897-12571_897-12541delCAGCACTGGAGGTGGGGTATAAACGT GTGTA	RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	8/15			chr6	TogoVar
ROBO2_chr3_77035099_77654964	77090323	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0083 a0008c0009t0002g0083	1	160	0.0063	-31	c.62- others(46): Show c.62-7673_62-7643delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr3	TogoVar

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Search Results (Total: 2615 hits)