JoGo: Joint Open Genome and Omics Platform

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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
SRGAP2C_chr1_121179975_121397874	121239200	ATATATAT others(75): Show ATATATATATATATATATATATATATATACTATATATATATATATACTAT ATATATATATATATATACTATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02300.hp1 HG02630.hp2 others(2): Show HG01928.hp1 HG02300.hp1 HG02630.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0225 others(2): Show a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0001g0242	5	274	0.0183	-82	c.68- others(99): Show c.68-45584_68-45503delTATATATATACTATATATATATATATAC TATATATATATATATATATACTATATATATATATACTATATATATATATA TATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK2_chr7_105111374_105393921	105170913	AAGGAGAA others(75): Show AAGGAGAAAGAAAAAGAAAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03491.hp2 NA18955.hp1 others(7): Show HG03017.hp2 HG03491.hp2 NA18955.hp1 NA18965.hp2 NA18977.hp1 NA18989.hp2 NA18999.hp1 NA19003.hp1 NA19010.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 others(7): Show a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0039 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0116	10	282	0.0355	-82	c.230 others(99): Show c.230-1730_230-1649delCTTTCTTTCTTTCTTTCTCTTTCTTTCT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTTTTCTTTTTCTTTC TCCT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
STAT5B_chr17_42194177_42281391	42262815	CATATATA others(75): Show CATATATATGTGTATATATACACACATATATATGTATATACACACATATA TGTGTGTGTATATATACACATATATATGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	260	0.0039	-82	c.-11 others(101): Show c.-11+13351_-11+13432delACACACATATATATGTGTATATATAC ACACACATATATGTGTGTATATACATATATATGTGTGTATATATACACAT ATATAT	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STIM1_chr11_3850664_4098208	3895614	CTTTCTTT others(75): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCCTTCCTTCCTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	300	0.0033	-82	c.139 others(101): Show c.139+39207_139+39288delTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCTTTCT TTCTTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895669	TCTTTCCT others(75): Show TCTTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	300	0.0033	-82	c.139 others(101): Show c.139+39264_139+39345delTCCTTCCTTCCTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCC TTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895673	TCCTTCCT others(75): Show TCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTTTCTTTCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01433.hp2 NA18959.hp1 others(4): Show HG01169.hp2 HG01433.hp2 NA18959.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0029 a0001c0002t0012	a0001c0001t0001g0181 a0001c0001t0004g0046 a0001c0001t0004g0047 others(4): Show a0001c0001t0001g0181 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0079 a0001c0001t0006g0258 a0001c0001t0029g0095 a0001c0002t0012g0027	7	300	0.0233	-82	c.139 others(101): Show c.139+39266_139+39347delCTTCCTTCCTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTCCTT CCTTCC	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895735	TTTTTCTT others(75): Show TTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01358.hp1 HG01978.hp1 others(9): Show HG01257.hp1 HG01358.hp1 HG01978.hp1 HG02698.hp1 HG02922.hp2 HG03834.hp1 HG03834.hp2 NA18906.hp1 NA18972.hp2 NA18980.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002 a0001c0002t0012 a0001c0002t0016 a0001c0003t0001	a0001c0001t0001g0107 a0001c0001t0002g0024 a0001c0001t0005g0211 others(9): Show a0001c0001t0001g0107 a0001c0001t0002g0024 a0001c0001t0005g0211 a0001c0001t0005g0264 a0001c0001t0005g0276 a0001c0001t0005g0285 a0001c0001t0008g0112 a0001c0001t0008g0179 a0001c0002t0002g0232 a0001c0002t0012g0022 a0001c0002t0016g0291 a0001c0003t0001g0152	12	300	0.0400	-82	c.139 others(101): Show c.139+39329_139+39410delTTCTTTCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCC TTCCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STK26_chrX_132018302_132080943	132044708	GATCTATA others(75): Show GATCTATATATATATTTATATATATATAGAGAGATCTATATATATATTTA TATATATATAGAGAGATCTATATATATATTTAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02615.hp2 HG02647.hp1 others(2): Show HG01884.hp1 HG02615.hp2 HG02647.hp1 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0065 others(2): Show a0001c0001t0002g0035 a0001c0001t0002g0053 a0001c0001t0002g0065 a0001c0001t0002g0068 a0001c0001t0002g0236	5	244	0.0205	-82	c.43- others(97): Show c.43-9920_43-9839delCTATATATATATTTATATATATATAGAGAG ATCTATATATATATTTATATATATATAGAGAGATCTATATATATATTTAT AT	STK26	ENSG00000134602.16	transcript	ENST00000394334.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
STK32C_chr10_132202492_132312950	132268883	ATGTGTGT others(75): Show ATGTGTGTCGGTGTGTGTGCATGCATGTGCATGCAGGTTCAGCTCTATGC CTGTGTGCATGCATGTCTCACATCGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03654.hp2 others(4): Show HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0004g0112 others(4): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0004g0112 a0001c0001t0005g0102 a0001c0002t0002g0101 a0001c0002t0003g0097 a0001c0003t0001g0113	7	368	0.0190	-82	c.263 others(101): Show c.263-23010_263-22929delCACACACACGATGTGAGACATGCATG CACACAGGCATAGAGCTGAACCTGCATGCACATGCATGCACACACACCGA CACACA	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK32C_chr10_132202492_132312950	132281255	CTCTAGAC others(75): Show CTCTAGACTATGTCCGTGTTTGAACCTTCTACTTGAACTATTTTTGTTGG CAATAGGGGTTATCTGGGTGTGAGATTATGGGT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18948.hp2 NA19007.hp1 others(1): Show HG02027.hp1 NA18948.hp2 NA19007.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0218 a0001c0001t0001g0328 a0001c0001t0002g0216 others(1): Show a0001c0001t0001g0218 a0001c0001t0001g0328 a0001c0001t0002g0216 a0001c0002t0002g0217	4	368	0.0109	-82	c.262 others(101): Show c.262+26235_262+26316delACCCATAATCTCACACCCAGATAACC CCTATTGCCAACAAAAATAGTTCAAGTAGAAGGTTCAAACACGGACATAG TCTAGA	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STON2_chr14_81255652_81405324	81308823	TATGTGTG others(75): Show TATGTGTGTGTGTGTATATATATATATATACACATACATACATACATACA TACATACACTAAAGGGTTGTGGCAGGATTTGAG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG03139.hp2 HG02280.hp1 HG02559.hp1 HG03139.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0020 a0002c0002t0007 a0002c0002t0020	a0002c0002t0007g0088 a0002c0002t0007g0160 a0002c0002t0020g0193 a0002c0002t0007g0088 a0002c0002t0007g0160 a0002c0002t0020g0193	3	264	0.0114	-82	c.742 others(101): Show c.742+15112_742+15193delCTCAAATCCTGCCACAACCCTTTAGT GTATGTATGTATGTATGTATGTATGTGTATATATATATATATACACACAC ACACAT	STON2	ENSG00000140022.14	transcript	ENST00000614646.5	protein_coding	5/7			chr14	TogoVar
STOX2_chr4_183900307_184028526	183956362	TTCTATCT others(75): Show TTCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCACC TATCTGTCGATCTATCATTCTATCATTCATCTA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0237 a0002c0003t0011g0237	1	318	0.0031	-82	c.167 others(101): Show c.167-44923_167-44842delATCTATCACCTATCTGTCGATCTATC ATTCTATCATTCATCTATCTATCTATCTATCTATCTATCTATCTATCTAT CTATCT	STOX2	ENSG00000173320.12	transcript	ENST00000308497.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
STXBP3_chr1_108741674_108814523	108771934	ATCATATA others(75): Show ATCATATATAAATACATATGATATCTGTATCATATATAAATACATATGAT ATCTGTATCATATATAAATACATATGATATCTG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01884.hp1 others(25): Show HG01074.hp2 HG01109.hp2 HG01884.hp1 HG02027.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp2 HG02976.hp2 HG03471.hp2 HG03669.hp2 HG03831.hp2 NA18940.hp1 NA18951.hp2 NA18962.hp2 NA18987.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19090.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0022 others(22): Show a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0120 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0003g0015 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0123	28	334	0.0838	-82	c.439 others(97): Show c.439-729_439-648delCATATATAAATACATATGATATCTGTATCA TATATAAATACATATGATATCTGTATCATATATAAATACATATGATATCT GT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUGCT_chr7_40130005_40865763	40212336	GATTGCTT others(75): Show GATTGCTTGTGCCAGGAGTTTGAGGCTGCAGTGAGCTATGATCAAGCCAC TGTACTGCAGCCTGGGTGACAGAGCAAGACCCT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	8	0.1250	-82	c.484 others(101): Show c.484+17277_484+17358delATTGCTTGTGCCAGGAGTTTGAGGCT GCAGTGAGCTATGATCAAGCCACTGTACTGCAGCCTGGGTGACAGAGCAA GACCCT	SUGCT	ENSG00000175600.16	transcript	ENST00000335693.9	protein_coding	6/13			chr7	TogoVar
SURF2_chr9_133351550_133366158	133363364	ACATCTGT others(75): Show ACATCTGTGCCTTTACCAAGGGAGGGGAAGGGAAGAGGATACATAAAAGC TGGCAGTTTTGTTGAATCCACCCCGAACCAGTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	448	0.0022	-82	c.22 others(93): Show c.2226_*2307delCATCTGTGCCTTTACCAAGGGAGGGGAAGGGAAG AGGATACATAAAAGCTGGCAGTTTTGTTGAATCCACCCCGAACCAGTC	SURF2	ENSG00000148291.10	transcript	ENST00000371964.5	protein_coding		2207		chr9	TogoVar
SYNE2_chr14_63848004_64231433	64037667	GTGGCCGG others(75): Show GTGGCCGGGCAGAGGGGCCCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCGCACCTCCCTCCCGGACGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00438.hp2 others(71): Show HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp2 HG01257.hp1 HG01257.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02717.hp1 HG02717.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03471.hp1 HG03492.hp1 HG03516.hp1 HG03704.hp1 HG03710.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp2 NA18939.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp1 NA18980.hp2 NA18986.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA19000.hp2 NA19007.hp2 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp1 NA19064.hp2 NA19086.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0009 others(30): Show a0001 a0002 a0009 a0010 a0013 a0014 a0020 a0021 a0025 a0027 a0029 a0036 a0044 a0047 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0065 a0066 a0067 a0074	a0001c0004 a0001c0005 a0001c0009 others(43): Show a0001c0004 a0001c0005 a0001c0009 a0001c0018 a0001c0019 a0001c0025 a0001c0054 a0001c0055 a0001c0065 a0002c0001 a0002c0057 a0002c0058 a0002c0068 a0009c0010 a0010c0006 a0013c0031 a0013c0032 a0014c0014 a0020c0020 a0021c0024 a0021c0048 a0025c0030 a0027c0044 a0029c0028 a0036c0093 a0044c0075 a0047c0094 a0049c0067 a0050c0051 a0051c0063 a0052c0056 a0053c0062 a0054c0060 a0055c0061 a0056c0053 a0057c0059 a0058c0052 a0059c0064 a0060c0066 a0061c0049 a0062c0050 a0063c0069 a0065c0046 a0066c0045 a0067c0029 a0074c0033	a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 others(47): Show a0001c0004t0003 a0001c0004t0004 a0001c0005t0001 a0001c0005t0002 a0001c0005t0009 a0001c0009t0003 a0001c0018t0001 a0001c0019t0004 a0001c0025t0003 a0001c0054t0001 a0001c0055t0003 a0001c0065t0002 a0002c0001t0001 a0002c0001t0002 a0002c0057t0001 a0002c0058t0003 a0002c0068t0002 a0009c0010t0004 a0010c0006t0006 a0013c0031t0004 a0013c0032t0001 a0014c0014t0001 a0020c0020t0001 a0021c0024t0001 a0021c0048t0001 a0025c0030t0002 a0027c0044t0002 a0029c0028t0003 a0036c0093t0001 a0044c0075t0001 a0047c0094t0001 a0049c0067t0002 a0050c0051t0003 a0051c0063t0004 a0052c0056t0001 a0053c0062t0001 a0054c0060t0008 a0055c0061t0003 a0056c0053t0001 a0057c0059t0003 a0058c0052t0005 a0059c0064t0003 a0060c0066t0004 a0061c0049t0003 a0062c0050t0005 a0063c0069t0002 a0065c0046t0001 a0066c0045t0001 a0067c0029t0002 a0074c0033t0003	a0001c0004t0003g0071 a0001c0004t0003g0132 a0001c0004t0004g0104 others(71): Show a0001c0004t0003g0071 a0001c0004t0003g0132 a0001c0004t0004g0104 a0001c0004t0004g0105 a0001c0004t0004g0127 a0001c0005t0001g0030 a0001c0005t0001g0110 a0001c0005t0002g0044 a0001c0005t0009g0062 a0001c0009t0003g0027 a0001c0009t0003g0112 a0001c0009t0003g0131 a0001c0018t0001g0026 a0001c0018t0001g0065 a0001c0019t0004g0119 a0001c0019t0004g0137 a0001c0025t0003g0084 a0001c0054t0001g0046 a0001c0055t0003g0135 a0001c0065t0002g0126 a0002c0001t0001g0014 a0002c0001t0001g0078 a0002c0001t0001g0111 a0002c0001t0002g0033 a0002c0001t0002g0068 a0002c0001t0002g0117 a0002c0001t0002g0118 a0002c0001t0002g0120 a0002c0001t0002g0121 a0002c0001t0002g0122 a0002c0001t0002g0124 a0002c0001t0002g0142 a0002c0057t0001g0128 a0002c0058t0003g0038 a0002c0068t0002g0140 a0009c0010t0004g0079 a0009c0010t0004g0080 a0009c0010t0004g0113 a0010c0006t0006g0037 a0010c0006t0006g0039 a0010c0006t0006g0058 a0013c0031t0004g0102 a0013c0032t0001g0103 a0014c0014t0001g0098 a0014c0014t0001g0099 a0020c0020t0001g0063 a0020c0020t0001g0134 a0021c0024t0001g0146 a0021c0048t0001g0042 a0025c0030t0002g0101 a0027c0044t0002g0123 a0029c0028t0003g0023 a0036c0093t0001g0096 a0044c0075t0001g0130 a0047c0094t0001g0109 a0049c0067t0002g0107 a0050c0051t0003g0047 a0051c0063t0004g0031 a0052c0056t0001g0136 a0053c0062t0001g0072 a0054c0060t0008g0024 a0055c0061t0003g0034 a0056c0053t0001g0133 a0057c0059t0003g0049 a0058c0052t0005g0053 a0059c0064t0003g0106 a0060c0066t0004g0076 a0061c0049t0003g0108 a0062c0050t0005g0043 a0063c0069t0002g0141 a0065c0046t0001g0114 a0066c0045t0001g0115 a0067c0029t0002g0086 a0074c0033t0003g0075	74	150	0.4933	-82	c.722 others(101): Show c.7221+6329_7221+6410delCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCGCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCC	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	45/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNPO2L_chr10_73639886_73661029	73660056	CACAAACT others(75): Show CACAAACTGTGAGGCCAATTCCAGATGAGATCCAGAGAAAGGGTGAGCAG CTCACTTATTTTTTAAGCAAAACACATTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	382	0.0026	-82	c.-42 others(93): Show c.-4216_-4135delAAGAAAATGTGTTTTGCTTAAAAAATAAGTGAGC TGCTCACCCTTTCTCTGGATCTCATCTGGAATTGGCCTCACAGTTTGT	SYNPO2L	ENSG00000166317.12	transcript	ENST00000394810.3	protein_coding		4028		chr10	TogoVar
SYNPR_chr3_63273308_63621924	63313848	CATATATA others(75): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03927.hp1 NA18939.hp1 HG00738.hp1 HG03927.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0217 a0001c0001t0002g0178 a0001c0001t0003g0200 a0001c0001t0001g0217 a0001c0001t0002g0178 a0001c0001t0003g0200	3	246	0.0122	-82	c.84+ others(99): Show c.84+35117_84+35198delCCATATATATATATCCATATATATATCC ATATATATATATCCATATATATATCCATATATATATATATCCATATATAT ATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63595719	ATATATAT others(75): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT AATTTTATATATATATAGTTATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG02922.hp1 others(5): Show HG02109.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018	a0001c0001t0001g0116 a0001c0001t0002g0043 a0001c0001t0002g0108 others(5): Show a0001c0001t0001g0116 a0001c0001t0002g0043 a0001c0001t0002g0108 a0001c0001t0003g0204 a0001c0001t0008g0106 a0001c0001t0008g0212 a0001c0001t0013g0228 a0001c0001t0018g0107	8	246	0.0325	-82	c.409 others(101): Show c.409-13391_409-13310delTATATATATATATATATATATATATA TATATATATAATTTTATATATATATAGTTATATATATATAGTTATATATA TATATA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63595751	ATATATAT others(75): Show ATATATATATATATATATAATTTTATATATATATAGTTATATATATATAG TTATATATATATATAGTTTTATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0182 a0001c0001t0007g0182	1	246	0.0041	-82	c.409 others(101): Show c.409-13363_409-13282delTATATATAATTTTATATATATATAGT TATATATATATAGTTATATATATATATAGTTTTATATATATATAGTTATA TATATA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT15B_chr10_47739717_47768592	47743275	TATACACA others(75): Show TATACACACATATATATATACACATATATATATATATACACATATATATA TATACATATATATATACATATATATATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0035 a0011c0009t0035	a0011c0009t0035g0147 a0011c0009t0035g0147	1	340	0.0029	-82	c.10 others(95): Show c.10815_*10896delGTGTATATATATATATGTATATATATATGTAT ATATATATATGTGTATATATATATATATGTGTATATATATATGTGTGTAT	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		1441		chr10	TogoVar
TAB3_chrX_30822442_30894254	30868485	ATATATAT others(75): Show ATATATATATAGCTTATATATATATATATAGCTTATATATATATATATAT AGCTTATATATATATATATATATATATATAGCT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0207 a0001c0001t0010g0207	1	302	0.0033	-82	c.-27 others(100): Show c.-279-1018_-279-937delAGCTATATATATATATATATATATATA TAAGCTATATATATATATATATAAGCTATATATATATATATAAGCTATAT ATATA	TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10			chrX	TogoVar
TBC1D19_chr4_26579084_26761223	26644925	ACACAAAC others(75): Show ACACAAACAAATGGAAGAACATTCCATGCTCATGGATAGGAAGAATCAAA ATCGTGAAAATGGCCATACTGCCCAAAGTGAGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	310	0.0032	-82	c.480 others(99): Show c.480+4817_480+4898delGAGGCACAAACAAATGGAAGAACATTCC ATGCTCATGGATAGGAAGAATCAAAATCGTGAAAATGGCCATACTGCCCA AAGT	TBC1D19	ENSG00000109680.11	transcript	ENST00000264866.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
TDP2_chr6_24644979_24671899	24663272	GGTTACAC others(75): Show GGTTACACAGTTACTAAATAGCACAGGTAGACTCAGAACCATATTACTAT CCCCACTGCACAAAGAAATTGAGGCAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	418	0.0024	-82	c.251 others(99): Show c.251+3172_251+3253delTTCTCTCTGCCTCAATTTCTTTGTGCAG TGGGGATAGTAATATGGTTCTGAGTCTACCTGTGCTATTTAGTAACTGTG TAAC	TDP2	ENSG00000111802.14	transcript	ENST00000378198.9	protein_coding	2/6			chr6	TogoVar
TENM1_chrX_124370903_125209312	124471351	TTATAATA others(75): Show TTATAATATATAGTACTATATATTATAATATATAGTACTATATATAATAT ATATTATAATATATAGTAATATATTATATATTA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0045 a0001c0004t0007g0045	1	140	0.0071	-82	c.394 others(103): Show c.3949+10299_3949+10380delTAATATATAATATATTACTATATA TTATAATATATATTATATATAGTACTATATATTATAATATATAGTACTAT ATATTATA	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	25/34			chrX	TogoVar
TENM2_chr5_166974029_168269157	167047417	CAAAGAAA others(75): Show CAAAGAAAGTTCCAAATTGATAACCTCTGGTATGTCCTAGAGATGGTTTA TTTTGCTTTCTTAATTTATAATGTGAGAATTAG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp1 HG02622.hp2 others(6): Show HG01081.hp2 HG01891.hp1 HG02622.hp2 HG02922.hp2 HG02970.hp1 HG03209.hp2 HG03516.hp1 HG04204.hp1 NA19043.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0031 a0001c0038 a0003c0020 a0005c0034	a0001c0001t0001 a0001c0002t0013 a0001c0003t0022 others(6): Show a0001c0001t0001 a0001c0002t0013 a0001c0003t0022 a0001c0004t0007 a0001c0007t0017 a0001c0031t0001 a0001c0038t0006 a0003c0020t0028 a0005c0034t0025	a0001c0001t0001g0045 a0001c0002t0013g0041 a0001c0003t0022g0020 others(6): Show a0001c0001t0001g0045 a0001c0002t0013g0041 a0001c0003t0022g0020 a0001c0004t0007g0054 a0001c0007t0017g0030 a0001c0031t0001g0050 a0001c0038t0006g0003 a0003c0020t0028g0013 a0005c0034t0025g0002	9	54	0.1667	-82	c.-18 others(103): Show c.-189-25806_-189-25725delATAACCTCTGGTATGTCCTAGAGA TGGTTTATTTTGCTTTCTTAATTTATAATGTGAGAATTAGAAAGAAAGTT CCAAATTG	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TENM4_chr11_78647829_79446030	79190867	GTCTCCCT others(75): Show GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCC CTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCC	G G	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0082 a0001c0001t0056g0082	1	94	0.0106	-82	c.-16 others(103): Show c.-163+24859_-163+24940delGGGAGACGGGAGAGGGAGAGGGAG ACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGA GAGGGAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	3/33			chr11	TogoVar
TERT_chr5_1248167_1300068	1273418	GACCGCCA others(75): Show GACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCGCCAT CCACAGTCACCACACATCAGACCCCCGGGACCA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	392	0.0026	-82	c.228 others(101): Show c.2287-1220_2287-1139delTGGTCCCGGGGGTCTGATGTGTGGTG ACTGTGGATGGCGATCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGAT GGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TFAP2D_chr6_50708526_50778033	50757467	TATATAAT others(75): Show TATATAATTATTCTATATATATATAATATATATAATTATTCTATATATAG AATACATATAATTATTCTATATATATAGAATAC	T T	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	334	0.0030	-82	c.113 others(101): Show c.1139+6166_1139+6247delTAATATATATAATTATTCTATATATA GAATACATATAATTATTCTATATATATAGAATACATATAATTATTCTATA TATATA	TFAP2D	ENSG00000008197.5	transcript	ENST00000008391.4	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
TFB1M_chr6_155251134_155319484	155305457	TTATATAT others(75): Show TTATATATATAAATATATATTAAATTATATATATAAATATATATTAAATT ATATATTTATATATATATTAAATTATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00738.hp2 HG02683.hp1 others(7): Show HG00609.hp1 HG00738.hp2 HG02683.hp1 HG03139.hp2 HG03209.hp1 HG03540.hp2 HG03834.hp2 NA18949.hp1 NA19012.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0025 others(1): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0025 a0001c0001t0040	a0001c0001t0002g0272 a0001c0001t0002g0278 a0001c0001t0002g0295 others(7): Show a0001c0001t0002g0272 a0001c0001t0002g0278 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0308 a0001c0001t0016g0309 a0001c0001t0025g0310 a0001c0001t0025g0311 a0001c0001t0040g0298	10	348	0.0287	-82	c.285 others(99): Show c.285+5649_285+5730delTAAATATATAATTTAATATATATATAAA TATATAATTTAATATATATTTATATATATAATTTAATATATATTTATATA TATA	TFB1M	ENSG00000029639.11	transcript	ENST00000367166.5	protein_coding	2/6			chr6	TogoVar
TFDP1_chr13_113579753_113646473	113583887	TAGTGCAC others(75): Show TAGTGCACACACCAGTCCCCGCTCCCTCACATGCACACACTAGTGCACAC ACCAGTCCCCGCTCCCTCACATGCACACACACG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(151): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18955.hp1 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18980.hp2 NA18983.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19079.hp2 NA19080.hp2 NA19085.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0005 a0003c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0006t0003 a0002c0005t0001 a0003c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0019 others(135): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0303 a0001c0001t0006g0202 a0001c0001t0007g0166 a0001c0001t0010g0210 a0001c0002t0001g0001 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0003g0035 a0001c0006t0003g0033 a0002c0005t0001g0174 a0003c0004t0001g0240	154	348	0.4425	-82	c.-10 others(92): Show c.-1065_-984delAGTGCACACACCAGTCCCCGCTCCCTCACATGCAC ACACTAGTGCACACACCAGTCCCCGCTCCCTCACATGCACACACACG	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding		865		chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625770	GTCTCTCA others(75): Show GTCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTCCTCAGGTGTCTCACG CGTCCTCAGGTGTCTCACGCGTCCTCAGGTGTC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	348	0.0029	-82	c.186 others(99): Show c.186+2489_186+2570delTCACGTGTCCTCAGGCGTCTCTCACGTG TCCTCAGGTGTCTCACGCGTCCTCAGGTGTCTCACGCGTCCTCAGGTGTC TCTC	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TFDP2_chr3_141939428_142154544	141969152	GATATATA others(75): Show GATATATATATAACATATATATATATCTCATATATATGAGATATATATAT ATAACATATATATATATCTCATATATATGAGAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02922.hp1 others(2): Show HG01884.hp1 HG02257.hp1 HG02922.hp1 HG02976.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0069 a0001c0001t0108 others(1): Show a0001c0001t0018 a0001c0001t0069 a0001c0001t0108 a0001c0001t0110	a0001c0001t0018g0033 a0001c0001t0018g0036 a0001c0001t0069g0112 others(2): Show a0001c0001t0018g0033 a0001c0001t0018g0036 a0001c0001t0069g0112 a0001c0001t0108g0035 a0001c0001t0110g0037	5	252	0.0198	-82	c.732 others(97): Show c.732+839_732+920delATCTCATATATATGAGATATATATATATGT TATATATATATATCTCATATATATGAGATATATATATATGTTATATATAT AT	TFDP2	ENSG00000114126.18	transcript	ENST00000489671.6	protein_coding	9/12			chr3	TogoVar
TMEM132D_chr12_129066726_129909025	129190262	AGGCCTGC others(75): Show AGGCCTGCAGATGGAGGGAGGGGTCTCAGGCCTGCAGATGGAGGGAGGGG TCTCGGCCTGCAGATGGAGGGAGGGGTCTTGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01978.hp2 HG02109.hp1 others(6): Show HG00099.hp2 HG01978.hp2 HG02109.hp1 HG02451.hp1 HG02809.hp2 HG02965.hp2 HG03225.hp1 NA18906.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0002c0003t0001 a0002c0003t0009 a0003c0005t0023	a0001c0001t0001g0012 a0001c0001t0002g0081 a0001c0001t0003g0040 others(6): Show a0001c0001t0001g0012 a0001c0001t0002g0081 a0001c0001t0003g0040 a0001c0001t0007g0014 a0001c0001t0008g0092 a0001c0001t0010g0048 a0002c0003t0001g0061 a0002c0003t0009g0017 a0003c0005t0023g0088	9	94	0.0957	-82	c.144 others(103): Show c.1443+19176_1443+19257delCCCAAGACCCCTCCCTCCATCTGC AGGCCGAGACCCCTCCCTCCATCTGCAGGCCTGAGACCCCTCCCTCCATC TGCAGGCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129389016	AACACCAA others(75): Show AACACCAATCCAGCACGATAATAATATTAACACTAACATGAATCCTAATA TAAACACTAACACCGACACCAATGCTAACACCG	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	94	0.0106	-82	c.111 others(103): Show c.1116-51281_1116-51200delCGGTGTTAGCATTGGTGTCGGTGT TAGTGTTTATATTAGGATTCATGTTAGTGTTAATATTATTATCGTGCTGG ATTGGTGT	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	3/8			chr12	TogoVar
TMEM156_chr4_38961744_39037409	38992681	ATTATATA others(75): Show ATTATATAATATATTATATAATATATATATATTATATATATATAATATAT ATATAATATATAATATATTATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03130.hp2 HG03486.hp1 others(1): Show HG02970.hp1 HG03130.hp2 HG03486.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009	a0001c0001t0003g0178 a0001c0001t0005g0167 a0001c0001t0005g0177 others(1): Show a0001c0001t0003g0178 a0001c0001t0005g0167 a0001c0001t0005g0177 a0001c0001t0009g0179	4	386	0.0104	-82	c.619 others(98): Show c.619+975_619+1056delATATATATATATATAATATATTATATATT ATATATATATTATATATATATAATATATATATATTATATAATATATTATA TAA	TMEM156	ENSG00000121895.8	transcript	ENST00000381938.4	protein_coding	3/6			chr4	TogoVar
TMEM184A_chr7_1537235_1561205	1551223	CGGTACCC others(75): Show CGGTACCCCTGCACCAGCCCAGGTGAGCCGGGAAGGAGGTGGGGGTGGGC GCAGGAGGGTTCGGGTGAGAGCCAGGTCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0180 a0002c0002t0009g0180	1	420	0.0024	-82	c.220 others(97): Show c.220-323_220-242delAGGCGGACCTGGCTCTCACCCGAACCCTCC TGCGCCCACCCCCACCTCCTTCCCGGCTCACCTGGGCTGGTGCAGGGGTA CC	TMEM184A	ENSG00000164855.16	transcript	ENST00000297477.10	protein_coding	2/8			chr7	TogoVar
TMEM184A_chr7_1537235_1561205	1551237	CAGCCCAG others(75): Show CAGCCCAGGTGAGCCGGGAAGGAGGTGGGGGTGGGCGCAGGAGGGTTCGG GTGAGAGCCAGGTCCGCCTGGTACCCCTGCACA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0069 a0013c0016t0069	a0013c0016t0069g0113 a0013c0016t0069g0113	1	420	0.0024	-82	c.220 others(97): Show c.220-337_220-256delTGTGCAGGGGTACCAGGCGGACCTGGCTCT CACCCGAACCCTCCTGCGCCCACCCCCACCTCCTTCCCGGCTCACCTGGG CT	TMEM184A	ENSG00000164855.16	transcript	ENST00000297477.10	protein_coding	2/8			chr7	TogoVar
TMEM184A_chr7_1537235_1561205	1551296	AGGTCCGC others(75): Show AGGTCCGCCTGGTACCCCTGCACAAGCCCAGGTGAGCCGGGAAGGAGGTG GGGGTGGGCGCAGGAGGGTTCGGGTGAGAGCCG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0181 a0002c0002t0002g0181	1	420	0.0024	-82	c.220 others(97): Show c.220-396_220-315delCGGCTCTCACCCGAACCCTCCTGCGCCCAC CCCCACCTCCTTCCCGGCTCACCTGGGCTTGTGCAGGGGTACCAGGCGGA CC	TMEM184A	ENSG00000164855.16	transcript	ENST00000297477.10	protein_coding	2/8			chr7	TogoVar
TMEM255B_chr13_113754226_113821995	113800902	GCCTGCGG others(75): Show GCCTGCGGGAGGTGAGGGGCACCGGGGACCCCCATATCTACACCTGCGGG AGGTGAGGGGCGCTGGGGACCCCCGTATCTACA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01081.hp2 others(13): Show HG00140.hp2 HG00639.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01516.hp2 HG02922.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0004 a0002c0010 a0002c0018 a0002c0004 a0002c0010 a0002c0018	a0002c0004t0004 a0002c0004t0014 a0002c0004t0139 others(7): Show a0002c0004t0004 a0002c0004t0014 a0002c0004t0139 a0002c0004t0142 a0002c0004t0143 a0002c0004t0144 a0002c0004t0145 a0002c0010t0048 a0002c0010t0054 a0002c0018t0004	a0002c0004t0004g0004 a0002c0004t0004g0037 a0002c0004t0004g0042 others(13): Show a0002c0004t0004g0004 a0002c0004t0004g0037 a0002c0004t0004g0042 a0002c0004t0004g0043 a0002c0004t0004g0044 a0002c0004t0014g0005 a0002c0004t0014g0033 a0002c0004t0014g0226 a0002c0004t0139g0038 a0002c0004t0142g0005 a0002c0004t0143g0004 a0002c0004t0144g0045 a0002c0004t0145g0034 a0002c0010t0048g0035 a0002c0010t0054g0094 a0002c0018t0004g0213	16	260	0.0615	-82	c.509 others(95): Show c.509+10_509+91delACCGGGGACCCCCATATCTACACCTGCGGGAG GTGAGGGGCGCTGGGGACCCCCGTATCTACACCTGCGGGAGGTGAGGGGC	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TNFRSF10B_chr8_23015133_23074031	23040313	ATAAATAT others(75): Show ATAAATATATATACAAAATATATATTTATTAAATATATACAAAATATATA TTTAATAAATATATATACAAAATATATATTTAT	A A	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0367 a0005c0005t0004g0367	1	384	0.0026	-82	c.250 others(99): Show c.250+2743_250+2824delATAAATATATATTTTGTATATATATTTA TTAAATATATATTTTGTATATATTTAATAAATATATATTTTGTATATATA TTTA	TNFRSF10B	ENSG00000120889.13	transcript	ENST00000276431.9	protein_coding	2/8			chr8	TogoVar
TPGS2_chr18_36789108_36834002	36806934	AACAGAAC others(75): Show AACAGAACTCAGGTGTGTAGGTAGAAGGCCGAGGCAACAAAGGGGAGAAG TCTGCTCTGTAGATTTGCAGTACAACAGAAGTC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	336	0.0030	-82	c.253 others(97): Show c.253+831_253+912delGACTTCTGTTGTACTGCAAATCTACAGAGC AGACTTCTCCCCTTTGTTGCCTCGGCCTTCTACCTACACACCTGAGTTCT GT	TPGS2	ENSG00000134779.15	transcript	ENST00000334295.9	protein_coding	3/6			chr18	TogoVar
TRAF7_chr16_2150782_2183129	2165242	CGTGGCGC others(75): Show CGTGGCGCGGCCTGGTCGCATGGTTAAGCGTGTTAGTGCTGCGTGGCGCG GCCTGGTCGCATGGTTAAGTGTGTGAGTGCTGT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	320	0.0031	-82	c.82- others(95): Show c.82-604_82-523delTAGTGCTGCGTGGCGCGGCCTGGTCGCATGGT TAAGTGTGTGAGTGCTGTGTGGCGCGGCCTGGTCGCATGGTTAAGCGTGT	TRAF7	ENSG00000131653.14	transcript	ENST00000326181.11	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
TRAF7_chr16_2150782_2183129	2165537	GGCCTGGT others(75): Show GGCCTGGTCGCATGGTTTAGCGTGTTAGTGCTGCGTGGCCTGGCCTGGTC GCATGGTTAAGCGTGTGAGTGCTGTGTGGCGCA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0077 a0001c0001t0003g0077	1	320	0.0031	-82	c.82- others(95): Show c.82-325_82-244delTAGCGTGTTAGTGCTGCGTGGCCTGGCCTGGT CGCATGGTTAAGCGTGTGAGTGCTGTGTGGCGCAGCCTGGTCGCATGGTT	TRAF7	ENSG00000131653.14	transcript	ENST00000326181.11	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
TRAF7_chr16_2150782_2183129	2165562	TAGTGCTG others(75): Show TAGTGCTGCGTGGCCTGGCCTGGTCGCATGGTTAAGCGTGTGAGTGCTGT GTGGCGCAGCCTGGTCGCATGGTTAAGCGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0109 a0001c0001t0003g0109	1	320	0.0031	-82	c.82- others(95): Show c.82-276_82-195delGAGTGCTGTGTGGCGCAGCCTGGTCGCATGGT TAAGCGTGTGAGTGCTGCGTGGCCTGGCCTGGTCGCATGGTTAAGCGTGT	TRAF7	ENSG00000131653.14	transcript	ENST00000326181.11	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
TRAPPC9_chr8_139722725_140462744	140156982	TTTCCATT others(75): Show TTTCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGCCTCCCTTTTCCATT CAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0012 a0001c0027t0012	a0001c0027t0012g0012 a0001c0027t0012g0012	1	98	0.0102	-82	c.255 others(103): Show c.2556+64395_2556+64476delGGGAGGCTTTTGAATGGAAAAGGG AGGCTTTTGAATGGAAAAGGGAGGCTTCTGAATGGAAAAGGGAGGCTTTT GAATGGAA	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRIQK_chr8_92878534_92971144	92949698	AAAGAGAA others(75): Show AAAGAGAAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGAAG GAAAGGGAAGGAAAGAAAGAGAAGGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	342	0.0029	-82	c.-22 others(99): Show c.-22+4626_-22+4707delCTTTCTTTCCTTCTCTTTCTTTCCTTCC CTTTCCTTCCTTTCTTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTTC TCTT	TRIQK	ENSG00000205133.12	transcript	ENST00000521988.6	protein_coding	2/4			chr8	TogoVar
TRPC4AP_chr20_34997404_35097807	35097362	CATATACA others(75): Show CATATACATATATACACACGTGTGTATATACATATACATATGTACACACG TGTGTATATATACATATGTACACACGTGTGTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	334	0.0030	-82	c.-46 others(93): Show c.-4663_-4582delATACACACGTGTGTACATATGTATATATACACAC GTGTGTACATATGTATATGTATATACACACGTGTGTATATATGTATAT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4556		chr20	TogoVar
TSNARE1_chr8_142207080_142408182	142241985	GTCTCCAT others(75): Show GTCTCCATCTCATGCCGTATACAACAATCAACTCAAAATGGATGGAAGAC CGACATGTGAGACCTAAAACTCTAAAACTACAA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0020 a0001c0001t0003g0020	1	238	0.0042	-82	c.144 others(103): Show c.1447-12488_1447-12407delTTGTAGTTTTAGAGTTTTAGGTCT CACATGTCGGTCTTCCATCCATTTTGAGTTGATTGTTGTATACGGCATGA GATGGAGA	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TUBGCP3_chr13_112480011_112593153	112567950	GCTTCTAG others(75): Show GCTTCTAGAAGGTGTTATCACTAAGACCTAAGGCCAAATGGACTTCTAAA AGATGTTACTACTGAGACCCAAGGCCAAATGGA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02965.hp1 others(4): Show HG01891.hp1 HG02055.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp1 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0001 a0001c0005t0002 a0001c0008t0009 a0001c0005t0001 a0001c0005t0002 a0001c0008t0009	a0001c0005t0001g0009 a0001c0005t0002g0012 a0001c0005t0002g0013 others(4): Show a0001c0005t0001g0009 a0001c0005t0002g0012 a0001c0005t0002g0013 a0001c0005t0002g0014 a0001c0005t0002g0015 a0001c0005t0002g0016 a0001c0008t0009g0017	7	312	0.0224	-82	c.184 others(99): Show c.184+1120_184+1201delTCCATTTGGCCTTGGGTCTCAGTAGTAA CATCTTTTAGAAGTCCATTTGGCCTTAGGTCTTAGTGATAACACCTTCTA GAAG	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	2/21			chr13	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)