Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTPRT_chr20_42067756_43194906	42754334	AGCCACCA others(86): Show AGCCACCACACCCAGCTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCATGTTGGCCAGGCTGGTCTCAAACTCCTGGCCTCAGGCGCAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02976.hp2 NA18906.hp2 HG02809.hp2 HG02976.hp2 NA18906.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0014 a0004c0024 a0006c0019 a0002c0014 a0004c0024 a0006c0019	a0002c0014t0007 a0004c0024t0005 a0006c0019t0008 a0002c0014t0007 a0004c0024t0005 a0006c0019t0008	a0002c0014t0007g0004 a0004c0024t0005g0032 a0006c0019t0008g0050 a0002c0014t0007g0004 a0004c0024t0005g0032 a0006c0019t0008g0050	3	62	0.0484	-93	c.859 others(110): Show c.859+2035_859+2127delATGCGCCTGAGGCCAGGAGTTTGAGACC AGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATA GCTGGGTGTGGTGGC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	6/30			chr20	TogoVar
RANBP17_chr5_170857018_171305015	171012012	TATTTGTT others(86): Show TATTTGTTTAAACAAATAATATATTTGTTTAAACAAATTATATTATTTGT TTAAACGAATATATTGTTTGTTTATTTGTTTAAACAAATAATAC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0064 a0001c0002t0009g0064	1	192	0.0052	-93	c.171 others(114): Show c.1710+43658_1710+43750delTTTGTTTAAACAAATTATATTATT TGTTTAAACGAATATATTGTTTGTTTATTTGTTTAAACAAATAATACATT TGTTTAAACAAATAATATA	RANBP17	ENSG00000204764.14	transcript	ENST00000523189.6	protein_coding	14/27		INFO_REALIGN_3_PRIME	chr5	TogoVar
RASA3_chr13_113972783_114137623	114006347	GGACGCCA others(86): Show GGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTGCCGGACGCCACCTT ACCCTTCTCCCCACTCCTGCCCTGCCGGATGCCACCTTACCCTT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	67	0.0149	-93	c.174 others(112): Show c.1742+1093_1742+1185delAAGGGTAAGGTGGCATCCGGCAGGGC AGGAGTGGGGAGAAGGGTAAGGTGGCGTCCGGCAGGGCAGGAGTGGGGAG AAGGGTAAGGTGGCGTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114029249	GGGGCCAG others(86): Show GGGGCCAGGACCTCTAAAACGGCATCATCCTGGGGCCAGGACCTCTAAAA CGGCATCATCCTGGGGGCCAGGACCTCTAAAACGGCATCATCCT	G G	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	67	0.0149	-93	c.449 others(108): Show c.449+469_449+561delAGGATGATGCCGTTTTAGAGGTCCTGGCCC CCAGGATGATGCCGTTTTAGAGGTCCTGGCCCCAGGATGATGCCGTTTTA GAGGTCCTGGCCC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	5/23			chr13	TogoVar
RBM10_chrX_47140221_47191813	47148585	TATGTATC others(86): Show TATGTATCCTTCTATGATACATATCATAGAAAATGTATCCTTCTATGATA CATATCATAGAAAATGTATCCTTCTATGATACATATCATAGAAA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01243.hp1 others(15): Show HG01081.hp1 HG01099.hp1 HG01243.hp1 HG01255.hp1 HG01358.hp1 HG01952.hp1 HG02257.hp2 HG02615.hp1 HG02735.hp1 HG02818.hp1 HG04228.hp1 HG06807.hp1 NA18982.hp1 NA18989.hp1 NA19030.hp1 NA19091.hp1 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0002	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0173 a0001c0001t0002g0008 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0203 a0001c0001t0009g0099 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172	18	226	0.0797	-93	c.17+ others(108): Show c.17+1374_17+1466delCTTCTATGATACATATCATAGAAAATGTAT CCTTCTATGATACATATCATAGAAAATGTATCCTTCTATGATACATATCA TAGAAAATGTATC	RBM10	ENSG00000182872.16	transcript	ENST00000377604.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chrX	TogoVar
RFWD3_chr16_74616399_74671877	74664101	ATGTGAGA others(86): Show ATGTGAGATACTTCAAGTTTTAAACATTTTTTGTATAGATGGGGTTTCCC ACGTTGCCTAGGCTGGTCTTCAACTCCTCGGCTCAAGCAACCCT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0087 a0003c0003t0003g0087	1	412	0.0024	-93	c.-3+ others(108): Show c.-3+2592_-2-2651delAGGGTTGCTTGAGCCGAGGAGTTGAAGACC AGCCTAGGCAACGTGGGAAACCCCATCTATACAAAAAATGTTTAAAACTT GAAGTATCTCACA	RFWD3	ENSG00000168411.14	transcript	ENST00000361070.9	protein_coding	1/12			chr16	TogoVar
RGS17_chr6_152999459_153136282	153122998	TACATCAG others(86): Show TACATCAGAGTACATTGGAGTATTTAATACTCCAATGTACACTGGAGTAA ATTGGAGTATTTAATACTCCAATTCACAACACGGCATTCAGTTA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	338	0.0030	-93	c.-26 others(110): Show c.-26+8033_-26+8125delTAACTGAATGCCGTGTTGTGAATTGGAG TATTAAATACTCCAATTTACTCCAGTGTACATTGGAGTATTAAATACTCC AATGTACTCTGATGT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS20_chr8_53846795_53964303	53948641	ATATATAA others(86): Show ATATATAAGATACAGTACATATTTACATATGCTATATAAGATACAGTACA TATTTACATATGCTATATAAGATACAGTACATATTTACATATGC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00438.hp2 others(51): Show HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG01069.hp1 HG01168.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02273.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp2 HG02897.hp1 HG02970.hp2 HG04115.hp2 HG04184.hp1 NA18612.hp1 NA18906.hp1 NA18948.hp2 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18988.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18999.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0041 others(51): Show a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0002g0169 a0001c0001t0002g0176 a0001c0001t0002g0236 a0001c0001t0003g0051 a0001c0001t0008g0114	54	258	0.2093	-93	c.743 others(110): Show c.743+2158_743+2250delCATATTTACATATGCTATATAAGATACA GTACATATTTACATATGCTATATAAGATACAGTACATATTTACATATGCT ATATAAGATACAGTA	RGS20	ENSG00000147509.14	transcript	ENST00000297313.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
RIPK1_chr6_3063494_3120187	3090792	AGCGCCTA others(86): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02273.hp2 HG02698.hp2 others(3): Show HG01978.hp1 HG02273.hp2 HG02698.hp2 HG02965.hp1 HG03834.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002	a0001c0001t0002g0181 a0001c0001t0008g0288 a0001c0002t0001g0070 others(3): Show a0001c0001t0002g0181 a0001c0001t0008g0288 a0001c0002t0001g0070 a0001c0002t0001g0174 a0001c0002t0002g0131 a0001c0002t0002g0173	6	340	0.0177	-93	c.915 others(110): Show c.915+1169_915+1261delACCTACCTGCCGCACCTAGTAACCGCAG AGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGC	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090854	AGTACCTA others(86): Show AGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp2 HG02015.hp2 others(20): Show HG00597.hp1 HG00673.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02735.hp1 HG03017.hp1 HG03704.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18946.hp2 NA18951.hp2 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18972.hp1 NA18977.hp1 NA18992.hp1 NA19058.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0269 a0001c0001t0001g0316 a0001c0001t0002g0022 others(20): Show a0001c0001t0001g0269 a0001c0001t0001g0316 a0001c0001t0002g0022 a0001c0001t0002g0032 a0001c0001t0002g0146 a0001c0001t0002g0295 a0001c0002t0001g0072 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0040 a0001c0002t0002g0051 a0001c0002t0002g0069 a0001c0002t0002g0083 a0001c0002t0002g0110 a0001c0002t0002g0144 a0001c0002t0002g0167 a0001c0002t0002g0239 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0289 a0001c0002t0002g0291	23	340	0.0677	-93	c.915 others(110): Show c.915+1199_915+1291delTACCTACCTGCCGCACCTAGTAACCGCA GCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3090857	ACCTACCT others(86): Show ACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01069.hp2 others(42): Show HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01175.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01975.hp2 HG01993.hp1 HG02071.hp2 HG02148.hp1 HG02300.hp1 HG02698.hp1 HG02738.hp2 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp1 HG03831.hp2 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18969.hp1 NA18973.hp2 NA18990.hp1 NA18991.hp1 NA18998.hp2 NA19000.hp2 NA19010.hp1 NA19064.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0048 others(42): Show a0001c0001t0001g0016 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0140 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0168 a0001c0001t0001g0177 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0001g0241 a0001c0001t0001g0251 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0279 a0001c0001t0001g0284 a0001c0001t0001g0287 a0001c0001t0001g0306 a0001c0001t0001g0320 a0001c0001t0001g0324 a0001c0001t0002g0301 a0001c0001t0005g0050 a0001c0001t0005g0139 a0001c0001t0005g0172 a0001c0001t0005g0217 a0001c0001t0005g0268 a0001c0001t0005g0274 a0001c0001t0010g0111 a0001c0001t0017g0308 a0001c0001t0019g0195 a0001c0002t0001g0145 a0001c0002t0001g0240 a0001c0002t0001g0257 a0001c0002t0002g0009 a0001c0002t0002g0133	45	340	0.1324	-93	c.915 others(110): Show c.915+1352_915+1444delCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091009	CGCGCCTA others(86): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01496.hp2 HG01256.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0336 a0001c0001t0001g0154 a0001c0001t0001g0336	2	340	0.0059	-93	c.915 others(110): Show c.915+1383_915+1475delCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091167	GCCTACCT others(86): Show GCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGTA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG01358.hp1 others(6): Show HG00423.hp1 HG00642.hp1 HG01358.hp1 HG02602.hp2 HG03710.hp2 NA18971.hp2 NA18994.hp1 NA19001.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0162 others(6): Show a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0243 a0001c0001t0001g0255 a0001c0002t0002g0104	9	340	0.0265	-93	c.915 others(110): Show c.915+1538_915+1630delAGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACCTGCCGC ACCTAGTAACCGCAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091195	AGCGCCTA others(86): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03654.hp2 NA18944.hp1 HG02129.hp1 HG03654.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0117 a0001c0001t0001g0170 a0001c0001t0001g0080 a0001c0001t0001g0117 a0001c0001t0001g0170	3	340	0.0088	-93	c.915 others(110): Show c.915+1600_915+1692delAGTACCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091198	GCCTACCT others(86): Show GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCG	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	340	0.0029	-93	c.915 others(110): Show c.915+1600_915+1692delAGTACCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091260	ACCTACCT others(86): Show ACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	340	0.0029	-93	c.915 others(110): Show c.915+1786_915+1878delCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091629	AGCGCCTA others(86): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03516.hp2 NA21309.hp2 HG00741.hp1 HG03516.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008	a0001c0002t0001g0240 a0001c0002t0002g0131 a0001c0002t0008g0238 a0001c0002t0001g0240 a0001c0002t0002g0131 a0001c0002t0008g0238	3	340	0.0088	-93	c.915 others(110): Show c.915+2096_915+2188delCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091908	CGCGCCTA others(86): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp1 others(25): Show HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp2 HG01069.hp2 HG01168.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01928.hp1 HG02074.hp2 HG02083.hp2 HG02293.hp2 HG02738.hp1 HG02738.hp2 NA18747.hp2 NA18941.hp2 NA18980.hp1 NA19001.hp2 NA19043.hp1 NA19056.hp1 NA19068.hp1 NA19068.hp2 NA19082.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0004c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0023 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0140 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0212 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0276 a0001c0001t0001g0294 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0336 a0001c0001t0005g0137 a0001c0002t0001g0041 a0001c0002t0001g0145 a0001c0002t0001g0207 a0001c0002t0002g0131 a0004c0006t0001g0087	28	340	0.0824	-93	c.915 others(110): Show c.915+2313_915+2405delAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGC ACCTAGTAACCGCAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3091970	AGCGCCTA others(86): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01993.hp2 HG00099.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0085 a0001c0001t0001g0010 a0001c0001t0001g0085	2	340	0.0059	-93	c.915 others(110): Show c.915+2344_915+2436delAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093201	TAACCGCA others(86): Show TAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACC TGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03130.hp2 HG02135.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0261 a0001c0002t0001g0203 a0001c0001t0001g0261 a0001c0002t0001g0203	2	340	0.0059	-93	c.915 others(110): Show c.915+3573_915+3665delCGGAACCGCAGAGCGCCTACCTGCCGCA CCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGC CTACCTGCCGCACCT	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093232	GAACCGCA others(86): Show GAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACC TGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCACCTAGT	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	340	0.0029	-93	c.915 others(110): Show c.915+3637_915+3729delGAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCT ACCTGCCGCACCTAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093325	TAACCGCA others(86): Show TAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGG	T T	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0257 a0001c0002t0001g0257	1	340	0.0029	-93	c.915 others(110): Show c.915+3699_915+3791delGAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCT ACCTGCCGCACCTAG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3093582	AGCGCCTA others(86): Show AGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGC	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02055.hp1 HG02056.hp2 others(3): Show HG00741.hp2 HG02055.hp1 HG02056.hp2 HG03831.hp1 NA18984.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0150 a0001c0001t0001g0178 others(3): Show a0001c0001t0001g0033 a0001c0001t0001g0150 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0292 a0001c0001t0001g0307	6	340	0.0177	-93	c.915 others(110): Show c.915+4230_915+4322delCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCT GCCGCACCTAGTAAC	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3094075	CAGCGCGC others(86): Show CAGCGCGCCTACCTCCTGCACCTAGTAACTGCAGAGTACCTACCTGCCGC ACCTAGTAACTGCAGAGTACCTACCTGCCGCACCTAGTAACTGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	340	0.0029	-93	c.915 others(110): Show c.915+4423_915+4515delCGCCTACCTCCTGCACCTAGTAACTGCA GAGTACCTACCTGCCGCACCTAGTAACTGCAGAGTACCTACCTGCCGCAC CTAGTAACTGTAGCG	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF144A_chr2_6912412_7049179	7039150	AGAGAGAT others(86): Show AGAGAGATGGATGATGGTTAATGGATGAATGGGTAGATGATGACTAGATG GGTAGATGGATGGATGGATAGATGGATGGGTAGGTGGATGGATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02647.hp2 HG03471.hp2 HG02145.hp2 HG02647.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0225 a0001c0001t0002g0232 a0001c0001t0002g0017 a0001c0001t0002g0225 a0001c0001t0002g0232	3	310	0.0097	-93	c.748 others(108): Show c.748-437_748-345delACTAGATGGGTAGATGGATGGATGGATAGA TGGATGGGTAGGTGGATGGATGGAGAGATGGATGATGGTTAATGGATGAA TGGGTAGATGATG	RNF144A	ENSG00000151692.15	transcript	ENST00000320892.11	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF213_chr17_80255852_80403794	80315706	ATGGAAGT others(86): Show ATGGAAGTGATGGTGGAGGTACTGGAGGTGATGGTGGTGGTGGTGGAGGT GACAGTGGTGATGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA20300.hp1 NA19043.hp2 NA20300.hp1	a0022 a0086 a0022 a0086	a0022c0126 a0086c0127 a0022c0126 a0086c0127	a0022c0126t0067 a0086c0127t0016 a0022c0126t0067 a0086c0127t0016	a0022c0126t0067g0180 a0086c0127t0016g0062 a0022c0126t0067g0180 a0086c0127t0016g0062	2	292	0.0069	-93	c.281 others(112): Show c.2812-1477_2812-1385delAGTGATGGTGGAGGTACTGGAGGTGA TGGTGGTGGTGGTGGAGGTGACAGTGGTGATGCTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF44_chr5_176521712_176542402	176530320	TGCAAGTC others(86): Show TGCAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCACGTG CAAGTCAGCCCGGTGGGCCTGCCTCCCAGCCGCCCCGGAGCCCA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02818.hp1 HG01358.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0146 a0001c0001t0001g0147	2	444	0.0045	-93	c.801 others(108): Show c.801+169_802-115delTGGGCTCCGGGGCGGCTGGGAGGCAGGCCC ACCGGGCTGACTTGCACGTGGGCTCCGGGGCGGCTGGGAGGCAGGCCCAC CGGGCTGACTTGC	RNF44	ENSG00000146083.12	transcript	ENST00000274811.9	protein_coding	6/10			chr5	TogoVar
RPN1_chr3_128614969_128655818	128624961	GGGGCATG others(86): Show GGGGCATGGAGCCAAGAGCCCTAAGGAACAATGAGAGAATGAGAAATGGA GGAAGGAAGGAAGAAAAGAGCAAGAGGATGACCTGAGGATAACA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0139 a0001c0003t0010g0139	1	388	0.0026	-93	c.139 others(110): Show c.1395+480_1395+572delTGTTATCCTCAGGTCATCCTCTTGCTCT TTTCTTCCTTCCTTCCTCCATTTCTCATTCTCTCATTGTTCCTTAGGGCT CTTGGCTCCATGCCC	RPN1	ENSG00000163902.12	transcript	ENST00000296255.8	protein_coding	8/9			chr3	TogoVar
RYR2_chr1_237037184_237838988	237719669	CCTCCAAC others(86): Show CCTCCAACACTGAGGATTACATTTCCACATAAGGCTGCTAAACCACTTAT GAAAGTTTTGCCCCATGATCAACTCAGCTCCCACCAGGTCCCGT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0011 a0001c0001t0007g0011	1	100	0.0100	-93	c.105 others(114): Show c.10554+1271_10554+1363delAAGGCTGCTAAACCACTTATGAAA GTTTTGCCCCATGATCAACTCAGCTCCCACCAGGTCCCGTCTCCAACACT GAGGATTACATTTCCACAT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	73/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAA2_chr11_18240240_18253668	18251734	GTTAAAGG others(86): Show GTTAAAGGATAAACAGTGGCAATGTACGTCATGTCCACAGAGATTATATT TTAGCTTAGCAAAGATACCAATTCTCCCAAATTTATTTATAAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	474	0.0021	-93	c.-32 others(104): Show c.-3229_-3137delATTTATAAATAAATTTGGGAGAATTGGTATCTTT GCTAAGCTAAAATATAATCTCTGTGGACATGACGTACATTGCCACTGTTT ATCCTTTAA	SAA2	ENSG00000134339.9	transcript	ENST00000256733.9	protein_coding		3067		chr11	TogoVar
SAMD10_chr20_63969116_63984642	63983410	AGAAGAGA others(86): Show AGAAGAGATGTTCTTGCAGGTGTTAGGACCACTGCCTTGGCATTTTCTAT TGCCCAGTCTTTTTTTTTTTTGAGACGGAATTTCGCTCTTGTCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp2 HG01167.hp1 HG01358.hp2 others(6): Show HG01123.hp2 HG01167.hp1 HG01358.hp2 HG01361.hp1 HG01891.hp2 HG01934.hp1 HG02109.hp1 HG02897.hp2 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0008 a0001c0002t0012 a0001c0002t0007 a0001c0002t0008 a0001c0002t0012	a0001c0002t0007g0017 a0001c0002t0007g0047 a0001c0002t0007g0049 others(5): Show a0001c0002t0007g0017 a0001c0002t0007g0047 a0001c0002t0007g0049 a0001c0002t0007g0051 a0001c0002t0008g0050 a0001c0002t0008g0052 a0001c0002t0008g0053 a0001c0002t0012g0054	9	342	0.0263	-93	c.-40 others(104): Show c.-4036_-3944delCGACAAGAGCGAAATTCCGTCTCAAAAAAAAAAA AGACTGGGCAATAGAAAATGCCAAGGCAGTGGTCCTAACACCTGCAAGAA CATCTCTTC	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3769		chr20	TogoVar
SCGB1C2_chr17_132569_144067	136275	ACCCTAAC others(86): Show ACCCTAACCCCTAACCCCTAACCAACCCTAACCCTAACCCTAACCCTAAC CCCTAACCCCTAACCCTAACCCTAACCCTAACCCTAACCCTAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	2	402	0.0050	-93	c.-13 others(104): Show c.-1315_-1223delCCCTAACCCCTAACCCCTAACCAACCCTAACCCT AACCCTAACCCTAACCCCTAACCCCTAACCCTAACCCTAACCCTAACCCT AACCCTAAC	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		1293		chr17	TogoVar
SCN11A_chr3_38840764_39056944	38877320	CTATATAT others(86): Show CTATATATGGTATATATATGGTGTATATACTATATATATGGTATATATAT GGTGTATATACTATATATATGGTATATATATGGTGTATATACTA	C C	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18957.hp2 NA18963.hp1 others(7): Show NA18939.hp2 NA18957.hp2 NA18963.hp1 NA18975.hp1 NA18991.hp1 NA19002.hp2 NA19063.hp2 NA19070.hp1 NA19081.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0017 a0001c0001t0002g0054 a0001c0001t0002g0071 others(7): Show a0001c0001t0002g0017 a0001c0001t0002g0054 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0013g0001	10	314	0.0319	-93	c.339 others(112): Show c.3393+2537_3393+2629delTAGTATATACACCATATATATACCAT ATATATAGTATATACACCATATATATACCATATATATAGTATATACACCA TATATATACCATATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SDR16C5_chr8_56295005_56325175	56310136	GAGGAGGA others(86): Show GAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAA GGAGGAGGAGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	398	0.0025	-93	c.466 others(110): Show c.466-1202_466-1110delTCCTCCTCCTCCTCCTTCCTCCTCCTCC TCCTTCCTCCTCCTCCTTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTT CCTCCTCCTCCTCCT	SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6			chr8	TogoVar
SEC14L3_chr22_30454229_30477017	30454821	ATAATATA others(86): Show ATAATATAATATATAATAATATATAATATATTATATTATTATATAATACA TAATATATTATTATATATTATATAATAGATATATAATATATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	-93	c.51 others(104): Show c.5107_*5199delATAATATATTATATATCTATTATATAATATATAA TAATATATTATGTATTATATAATAATATAATATATTATATATTATTATAT ATTATATTA	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4407		chr22	TogoVar
SGK1_chr6_134164256_134323112	134213483	TGCATTCC others(86): Show TGCATTCCAGCCTGGGTGACAAGAGCAAAACTCTGTCTCAAAATAAATAA ATAAATAAATAAATAAAATGTCCTCATGAAACACCTGTGGCTTA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	250	0.0040	-93	c.286 others(110): Show c.286-6145_286-6053delTAAGCCACAGGTGTTTCATGAGGACATT TTATTTATTTATTTATTTATTTATTTTGAGACAGAGTTTTGCTCTTGTCA CCCAGGCTGGAATGC	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134213550	ATGTCCTC others(86): Show ATGTCCTCATGAAACACCTGTGGCTTAGCATTCCAGCCTGGGTGACAAGA GCAAAACTCTGTCTCAAAATAAATAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00741.hp1 others(39): Show HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01243.hp2 HG01891.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18957.hp1 NA19030.hp1 NA19043.hp2 NA19070.hp2 NA19240.hp2 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0003c0011 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0002t0001 a0001c0003t0001 a0001c0006t0004 a0001c0007t0001 a0003c0011t0001 a0005c0008t0001	a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0065 others(39): Show a0001c0001t0001g0017 a0001c0001t0001g0048 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0139 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0002g0060 a0001c0001t0002g0133 a0001c0001t0002g0221 a0001c0001t0002g0226 a0001c0001t0004g0077 a0001c0001t0005g0181 a0001c0001t0005g0194 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0008g0166 a0001c0002t0001g0106 a0001c0002t0001g0136 a0001c0002t0001g0208 a0001c0003t0001g0028 a0001c0006t0004g0111 a0001c0006t0004g0112 a0001c0007t0001g0156 a0003c0011t0001g0101 a0005c0008t0001g0034	42	250	0.1680	-93	c.286 others(110): Show c.286-6212_286-6120delATTTATTTATTTATTTATTTATTTATTT TGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAATGCTAAGCCACAGG TGTTTCATGAGGACA	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SH2D1A_chrX_124341563_124378160	124350370	AATATATA others(86): Show AATATATAATATATAAATATATATTATATACTATATATAATATATAAATA TATATTATATACTATATATAATATATAAATATATATTATATACT	A A	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18980.hp2 NA18990.hp1 NA18939.hp1 NA18980.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0230 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0001g0230 a0001c0001t0002g0229 a0001c0001t0002g0231	3	318	0.0094	-93	c.137 others(110): Show c.137+3669_137+3761delATATATATTATATACTATATATAATATA TAAATATATATTATATACTATATATAATATATAAATATATATTATATACT ATATATAATATATAA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9792053	ATAGAATA others(86): Show ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA ATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00673.hp1 others(16): Show HG00423.hp2 HG00438.hp2 HG00673.hp1 HG01433.hp1 HG02080.hp1 HG02129.hp1 HG02559.hp1 HG02602.hp1 HG02809.hp1 HG02809.hp2 HG02970.hp2 HG03098.hp1 NA18945.hp1 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18977.hp1 NA18979.hp1 NA19070.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0018 a0035	a0001c0001 a0001c0003 a0001c0007 others(8): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0002c0010 a0003c0004 a0003c0006 a0003c0008 a0007c0014 a0018c0074 a0035c0056	a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 others(8): Show a0001c0001t0001 a0001c0003t0001 a0001c0007t0001 a0002c0002t0002 a0002c0010t0003 a0003c0004t0003 a0003c0006t0003 a0003c0008t0004 a0007c0014t0003 a0018c0074t0003 a0035c0056t0001	a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0162 others(16): Show a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0162 a0001c0003t0001g0111 a0001c0003t0001g0165 a0001c0007t0001g0130 a0001c0007t0001g0209 a0002c0002t0002g0005 a0002c0002t0002g0228 a0002c0010t0003g0227 a0003c0004t0003g0109 a0003c0006t0003g0163 a0003c0006t0003g0164 a0003c0006t0003g0166 a0003c0006t0003g0167 a0003c0008t0004g0208 a0007c0014t0003g0186 a0018c0074t0003g0187 a0035c0056t0001g0233	19	256	0.0742	-93	c.165 others(110): Show c.165+5344_165+5436delTAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAG	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9			chrX	TogoVar
SIGIRR_chr11_400716_419999	401863	ACCCCGCT others(86): Show ACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGAC CCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0022	1	242	0.0041	-93	c.39 others(104): Show c.3940_*4032delCCGGGGGTCGGGGGTGAGCGGGGTCCGGGGTGAG CGGGGCCGGGGTCAGTGGAGCCGGGGGTGAGCGGGGCCGGGGGTCGGGGG TGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3852		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070757	CATCACAC others(86): Show CATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACAC GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0005	1	118	0.0085	-93	c.224 others(112): Show c.2241+2783_2241+2875delACCGTGTGCTGGGGGCTCACTGGGGG CTGCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGG GGCTGCATAAGTGTGAT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1071947	CAGCCCCC others(86): Show CAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCA GTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0021 a0001c0006t0021	a0001c0006t0021g0104 a0001c0006t0021g0104	1	118	0.0085	-93	c.224 others(112): Show c.2241+1593_2241+1685delCACTGGGGGCTGCATAAGTGTGATAC CGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTG GGGGCTCACTGGGGGCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC26A3_chr7_107760469_107808223	107770149	CTTTCTTT others(86): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAAAAAAAAGGGGTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	436	0.0023	-93	c.206 others(112): Show c.2062+1812_2062+1904delAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAACCCCTTTTTTTTTTTAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAA	SLC26A3	ENSG00000091138.13	transcript	ENST00000340010.10	protein_coding	18/20			chr7	TogoVar
SMYD3_chr1_245744347_246512279	246251415	TCAGACAC others(86): Show TCAGACACTGTGCCCGGCTTTAGTAGGTGCCTCGGACACTGTGCCCGGCT TTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01952.hp1 HG01981.hp1 others(2): Show HG00140.hp2 HG01952.hp1 HG01981.hp1 HG02273.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0012t0002	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0002t0001g0056 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0002t0001g0056 a0001c0002t0002g0077 a0001c0012t0002g0074	5	150	0.0333	-93	c.531 others(112): Show c.531+75693_531+75785delCGGCACCTACTAAAGCCGGGCACAGT GTCCGAGGCACCTACTAAAGCCGGGCACAGTGTCCGAGGCACCTACTAAA GCCGGGCACAGTGTCTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251518	CGCCCGGC others(86): Show CGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCTTTAGTAGGTG CCGCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	150	0.0067	-93	c.531 others(112): Show c.531+75590_531+75682delACAGTGTCCGCGGCACCTACTAAAGC CGGGCACAGTGTCCGCGGCACCTACTAAAGCCGGGCACAGTGTCCGCGGC ACCTACTAAAGCCGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246251663	TCGGACAC others(86): Show TCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCT TTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCG	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18984.hp2 NA18747.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0002g0032 a0001c0001t0001g0007 a0001c0001t0002g0032	2	150	0.0133	-93	c.531 others(112): Show c.531+75445_531+75537delCGGCACCTACTAAAGCCGGGCACAGT GTCCGAGGCACCTACTAAAGCCGGGCACAGTGTCCGCGGCACCTACTAAA GCCGGGCACAGTGTCCG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246252128	TCGGACAC others(86): Show TCGGACACTGTGCCCGGCTTTAGTAGGTGCCGCGGACACTGTGCCCGGCT TTAGTAGGTGCCTCGGACACTGTGCCCGGCTTTAGTAGGTGCCG	T T	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	150	0.0067	-93	c.531 others(112): Show c.531+74980_531+75072delCGGCACCTACTAAAGCCGGGCACAGT GTCCGAGGCACCTACTAAAGCCGGGCACAGTGTCCGCGGCACCTACTAAA GCCGGGCACAGTGTCCG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SRBD1_chr2_45383680_45616267	45414926	CACACACA others(86): Show CACACACAGTGTTATATAGTATGTACATACACACACATATAGTGTGTATA TAGTATGTATATACACACATATAGTGTGTATATAGTATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02886.hp1 HG03834.hp2 others(2): Show HG01346.hp2 HG02886.hp1 HG03834.hp2 NA18942.hp2 NA18954.hp2	a0001 a0003 a0012 a0001 a0003 a0012	a0001c0001 a0003c0003 a0012c0015 a0001c0001 a0003c0003 a0012c0015	a0001c0001t0001 a0003c0003t0001 a0012c0015t0001 a0001c0001t0001 a0003c0003t0001 a0012c0015t0001	a0001c0001t0001g0252 a0001c0001t0001g0261 a0003c0003t0001g0057 others(2): Show a0001c0001t0001g0252 a0001c0001t0001g0261 a0003c0003t0001g0057 a0003c0003t0001g0063 a0012c0015t0001g0343	5	358	0.0140	-93	c.233 others(112): Show c.2334-1726_2334-1634delATATACATACTATATACACACTATAT GTGTGTATATACATACTATATACACACTATATGTGTGTGTATGTACATAC TATATAACACTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRGAP2B_chr1_144882288_145100328	144883958	GAGGGGGG others(86): Show GAGGGGGGGAAGCCGCGGCGGCGGGGGGCGAAAAGCCACGGCGGCGGGGG GTAAAAAGCCGCGGCGGTCAAAAAGCCGAGGCGGGGTGGGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01109.hp1 NA18946.hp2 HG01099.hp1 HG01109.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0009g0046 a0001c0001t0001g0040 a0001c0001t0001g0048 a0001c0001t0009g0046	3	56	0.0536	-93	c.81 others(104): Show c.8109_*8201delACCCCCCACCCCGCCTCGGCTTTTTGACCGCCGC GGCTTTTTACCCCCCGCCGCCGTGGCTTTTCGCCCCCCGCCGCCGCGGCT TCCCCCCCT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3329		chr1	TogoVar
SSH2_chr17_29620938_29935228	29895740	ATATAAAA others(86): Show ATATAAAATGTATTTTATATACACATTTCATGTATAAAATGTATTTTATA TACACATTTCATGTATAAAATGTATTTTATATACACATTTCATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0123 a0003c0004t0004g0123	1	232	0.0043	-93	c.63+ others(110): Show c.63+34105_63+34197delCATGAAATGTGTATATAAAATACATTTT ATACATGAAATGTGTATATAAAATACATTTTATACATGAAATGTGTATAT AAAATACATTTTATA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar

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Search Results (Total: 10000 hits)