Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SULF1_chr8_69487847_69665912	69623721	ACACTGCC others(25): Show ACACTGCCAGGCAATGGCACTGCCAGGCAATGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(21): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01167.hp1 HG01175.hp1 HG01255.hp2 HG01516.hp1 HG01934.hp2 HG02004.hp1 HG02258.hp2 HG02735.hp1 HG03225.hp2 HG03490.hp1 HG03669.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0031	a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0047 others(21): Show a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0104 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0270 a0001c0001t0003g0067 a0001c0001t0003g0072 a0001c0001t0003g0185 a0001c0001t0003g0271 a0001c0001t0004g0136 a0001c0001t0005g0159 a0001c0001t0005g0168 a0001c0001t0010g0109 a0001c0001t0010g0113 a0001c0001t0011g0191 a0001c0001t0031g0076	24	296	0.0811	-32	c.159 others(49): Show c.1595-194_1595-163delCAATGGCACTGCCAGGCAATGGCACTGC CAGG	SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
SULF2_chr20_47652406_47790481	47745400	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0300 a0001c0001t0030g0300	1	364	0.0028	-32	c.176 others(49): Show c.176-8490_176-8459delATATATATATATATATATATATTTTTTT TTTT	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	2/20			chr20	TogoVar
SULT1B1_chr4_69716167_69765620	69726033	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0138 a0001c0001t0138	a0001c0001t0138g0175 a0001c0001t0138g0175	1	408	0.0025	-32	c.10 others(43): Show c.1023_*1054delATATATATATATATATATATATATATATATAT	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding	8/8	1023		chr4	TogoVar
SUMF2_chr7_56059286_56085670	56061810	TCAGAATC others(25): Show TCAGAATCAGGTCAGCTTGTGGGTGTGGACCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0232	1	412	0.0024	-32	c.-25 others(43): Show c.-2501_-2470delCAGAATCAGGTCAGCTTGTGGGTGTGGACCTG	SUMF2	ENSG00000129103.19	transcript	ENST00000434526.8	protein_coding		2475		chr7	TogoVar
SUMO2_chr17_75160586_75187959	75162278	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 NA19066.hp1 HG01109.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0080 a0001c0001t0001g0001 a0001c0001t0003g0080	2	398	0.0050	-32	c.60 others(43): Show c.6029_*6060delATATATATATATATATATATATATATATATAT	SUMO2	ENSG00000188612.12	transcript	ENST00000420826.7	protein_coding		3307		chr17	TogoVar
SUPT3H_chr6_44821726_45382934	45288581	ATGTATAT others(25): Show ATGTATATATATATATGTGTATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp2 HG02897.hp2 others(3): Show HG01891.hp2 HG02896.hp2 HG02897.hp2 HG04204.hp1 NA18906.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0008g0068 others(3): Show a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0008g0068 a0001c0001t0008g0085 a0001c0001t0008g0087 a0001c0001t0008g0094	6	262	0.0229	-32	c.101 others(51): Show c.101+76588_101+76619delCATATATATATATACACATATATATA TATACA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUSD4_chr1_223215831_223369176	223304793	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp2 HG00741.hp1 others(25): Show HG00323.hp2 HG00639.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01258.hp2 HG01361.hp2 HG01928.hp1 HG01981.hp1 HG02083.hp2 HG02155.hp2 HG02735.hp1 HG03491.hp2 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG04204.hp1 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18955.hp1 NA18971.hp2 NA19009.hp1 NA19057.hp1 NA19064.hp1 NA19067.hp2 NA19074.hp1 NA19081.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0006 a0001c0007 others(3): Show a0001c0001 a0001c0006 a0001c0007 a0001c0014 a0001c0015 a0006c0013	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0001c0014t0001 a0001c0015t0001 a0006c0013t0001	a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0051 others(25): Show a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0051 a0001c0001t0001g0064 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0006t0001g0083 a0001c0007t0001g0086 a0001c0014t0001g0098 a0001c0015t0001g0209 a0006c0013t0001g0107	28	276	0.1015	-32	c.149 others(51): Show c.149-12174_149-12143delATATATATATATATATATATATATAT ATATAT	SUSD4	ENSG00000143502.16	transcript	ENST00000366878.9	protein_coding	2/8			chr1	TogoVar
SV2B_chr15_91095257_91307565	91137596	TATATATA others(25): Show TATATATATTTCATATATATATTTCATATATAC	T T	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0073 a0001c0010t0073	a0001c0010t0073g0204 a0001c0010t0073g0204	1	214	0.0047	-32	c.-39 others(53): Show c.-392+37240_-392+37271delATTTCATATATATATTTCATATAT ACATATAT	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2C_chr5_76078383_76338956	76223436	CATACATA others(25): Show CATACATACATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0070 a0001c0001t0040g0070	1	234	0.0043	-32	c.913 others(51): Show c.913+13553_913+13584delCATACATATATATATATATATATATA TATATA	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76223440	CATACATA others(25): Show CATACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02970.hp1 HG02109.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0047 a0001c0001t0002 a0001c0001t0047	a0001c0001t0002g0023 a0001c0001t0047g0046 a0001c0001t0002g0023 a0001c0001t0047g0046	2	234	0.0086	-32	c.913 others(51): Show c.913+13557_913+13588delCATATATATATATATATATATATATA TATATA	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVOPL_chr7_138589285_138706362	138621802	GTATCTAT others(25): Show GTATCTATCTATGTATCTATGTATCTATGTATC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03209.hp1 HG02055.hp2 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0008 a0001c0001t0001 a0002c0003t0008	a0001c0001t0001g0182 a0002c0003t0008g0002 a0001c0001t0001g0182 a0002c0003t0008g0002	2	360	0.0056	-32	c.126 others(49): Show c.1264-699_1264-668delGATACATAGATACATAGATACATAGATA GATA	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138621846	GTATCTAT others(25): Show GTATCTATCTATCTATCTATCTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0249	1	360	0.0028	-32	c.126 others(49): Show c.1264-743_1264-712delGATAGATAGATAGATAGATAGATAGATA GATA	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138621898	CTATCTAT others(25): Show CTATCTATGTATCTATCTATGTATCTATCTATG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18950.hp1 HG02109.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0021 a0001c0002t0002g0149 a0001c0001t0002g0021 a0001c0002t0002g0149	2	360	0.0056	-32	c.126 others(49): Show c.1264-795_1264-764delCATAGATAGATACATAGATAGATACATA GATA	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138622070	GTATCTAT others(25): Show GTATCTATCTATCTATCTATGTATCTATCTATC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	360	0.0028	-32	c.126 others(49): Show c.1264-967_1264-936delGATAGATAGATACATAGATAGATAGATA GATA	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138622238	CTATCTAT others(25): Show CTATCTATCTATCTATGTATCTATCTATCTATG	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA20129.hp2 HG03225.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0345 a0001c0001t0001g0178 a0001c0001t0001g0345	2	360	0.0056	-32	c.126 others(51): Show c.1264-1135_1264-1104delCATAGATAGATAGATACATAGATAGA TAGATA	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	13/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138637437	TATATAGA others(25): Show TATATAGATAGATAGATAGATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02145.hp1 HG04204.hp1 others(10): Show HG01978.hp2 HG02145.hp1 HG04204.hp1 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18979.hp1 NA19012.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19090.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0016 a0001c0026 a0002c0003 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0005t0002 a0001c0016t0002 a0001c0026t0003 a0002c0003t0001 a0003c0007t0004	a0001c0001t0001g0193 a0001c0001t0002g0104 a0001c0001t0003g0105 others(10): Show a0001c0001t0001g0193 a0001c0001t0002g0104 a0001c0001t0003g0105 a0001c0002t0002g0203 a0001c0002t0002g0290 a0001c0005t0002g0024 a0001c0005t0002g0207 a0001c0005t0002g0302 a0001c0016t0002g0180 a0001c0016t0002g0205 a0001c0026t0003g0206 a0002c0003t0001g0288 a0003c0007t0004g0075	13	360	0.0361	-32	c.789 others(49): Show c.789+7248_789+7279delCTATATATATATATCTATCTATCTATCT ATAT	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	9/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138693529	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	360	0.0028	-32	c.-35 others(49): Show c.-35+7617_-35+7648delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	1/15			chr7	TogoVar
SVOPL_chr7_138589285_138706362	138693548	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02647.hp2 HG03139.hp1 others(2): Show HG02109.hp2 HG02647.hp2 HG03139.hp1 HG03225.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0014 a0002c0003 a0001c0001 a0001c0014 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0014t0006 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0014t0006 a0002c0003t0011	a0001c0001t0001g0011 a0001c0001t0006g0357 a0001c0001t0006g0358 others(2): Show a0001c0001t0001g0011 a0001c0001t0006g0357 a0001c0001t0006g0358 a0001c0014t0006g0355 a0002c0003t0011g0356	5	360	0.0139	-32	c.-35 others(49): Show c.-35+7598_-35+7629delCTTTTTTCTTTCTTTCTTTCTTTCTTTC TTTC	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	1/15			chr7	TogoVar
SWAP70_chr11_9659077_9757993	9671675	AATAGAAA others(25): Show AATAGAAATATATAAATATATTTCTATGTATAC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02970.hp1 others(2): Show HG02258.hp1 HG02559.hp1 HG02970.hp1 HG03453.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0004 a0001c0002 a0002c0001 a0002c0004	a0001c0002t0011 a0002c0001t0001 a0002c0004t0005 a0001c0002t0011 a0002c0001t0001 a0002c0004t0005	a0001c0002t0011g0093 a0001c0002t0011g0095 a0002c0001t0001g0074 others(2): Show a0001c0002t0011g0093 a0001c0002t0011g0095 a0002c0001t0001g0074 a0002c0001t0001g0096 a0002c0004t0005g0094	5	294	0.0170	-32	c.99+ others(47): Show c.99+7441_99+7472delTAAATATATTTCTATGTATACATAGAAATA TA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9675320	CGAGAGAG others(25): Show CGAGAGAGAGAGAGAGAGAGAGGGAGCGAGAGA	C C	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0035 a0001c0008t0035	a0001c0008t0035g0058 a0001c0008t0035g0058	1	294	0.0034	-32	c.99+ others(49): Show c.99+11064_99+11095delGGAGCGAGAGAGAGAGAGAGAGAGAGAG AGAG	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9675346	CGAGAGAG others(25): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0027 a0001c0003t0010g0027	1	294	0.0034	-32	c.99+ others(49): Show c.99+11112_99+11143delAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWI5_chr9_128271276_128293989	128291978	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA19030.hp2 NA18992.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0115 a0001c0001t0001g0007 a0001c0001t0001g0115	2	386	0.0052	-32	c.32 others(43): Show c.3263_*3294delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding		2990		chr9	TogoVar
SYN2_chr3_11999388_12197032	12003797	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 NA19043.hp2 HG03130.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0016 a0002c0002t0001 a0002c0002t0016	a0002c0002t0001g0003 a0002c0002t0016g0120 a0002c0002t0001g0003 a0002c0002t0016g0120	2	264	0.0076	-32	c.-75 others(41): Show c.-754_-723delGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding		590		chr3	TogoVar
SYNDIG1_chr20_24464629_24671616	24469515	CCGCTCGG others(25): Show CCGCTCGGGCTGCCGCCGCTGCCCCGCGCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	270	0.0037	-32	c.-31 others(41): Show c.-316_-285delCGCTCGGGCTGCCGCCGCTGCCCCGCGCCCGG	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding		113		chr20	TogoVar
SYNE1_chr6_152116687_152642362	152377626	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02071.hp2 HG02132.hp2 others(5): Show HG00544.hp2 HG02071.hp2 HG02132.hp2 HG03831.hp1 NA18939.hp1 NA18979.hp2 NA19000.hp2 NA20905.hp1	a0008 a0019 a0020 others(5): Show a0008 a0019 a0020 a0068 a0070 a0076 a0106 a0122	a0008c0129 a0019c0003 a0020c0004 others(5): Show a0008c0129 a0019c0003 a0020c0004 a0068c0040 a0070c0081 a0076c0097 a0106c0128 a0122c0159	a0008c0129t0003 a0019c0003t0010 a0020c0004t0006 others(5): Show a0008c0129t0003 a0019c0003t0010 a0020c0004t0006 a0068c0040t0011 a0070c0081t0011 a0076c0097t0007 a0106c0128t0002 a0122c0159t0001	a0008c0129t0003g0070 a0019c0003t0010g0129 a0020c0004t0006g0159 others(5): Show a0008c0129t0003g0070 a0019c0003t0010g0129 a0020c0004t0006g0159 a0068c0040t0011g0031 a0070c0081t0011g0060 a0076c0097t0007g0142 a0106c0128t0002g0083 a0122c0159t0001g0023	8	174	0.0460	-32	c.901 others(49): Show c.9010-746_9010-715delATATATATATATATATATTTTTTTTTTT TTTT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	56/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152559041	TCTGTTGC others(25): Show TCTGTTGCCTGGGCTAGAGTGCAGTGGCACTCA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG03540.hp1 HG02109.hp2 HG02723.hp2 HG03540.hp1	a0010 a0086 a0130 a0010 a0086 a0130	a0010c0023 a0086c0165 a0130c0024 a0010c0023 a0086c0165 a0130c0024	a0010c0023t0004 a0086c0165t0018 a0130c0024t0001 a0010c0023t0004 a0086c0165t0018 a0130c0024t0001	a0010c0023t0004g0056 a0086c0165t0018g0174 a0130c0024t0001g0057 a0010c0023t0004g0056 a0086c0165t0018g0174 a0130c0024t0001g0057	3	174	0.0172	-32	c.68- others(49): Show c.68-19052_68-19021delTGAGTGCCACTGCACTCTAGCCCAGGCA ACAG	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152604982	AAGAAAGA others(25): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0128 a0128	a0128c0013 a0128c0013	a0128c0013t0004 a0128c0013t0004	a0128c0013t0004g0053 a0128c0013t0004g0053	1	174	0.0058	-32	c.67+ others(49): Show c.67+23251_67+23282delCTCTCTCTTTCTTTCTTTCTTTCTTTCT TTCT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNPO2_chr4_118883854_119066247	119007244	ATGTATAT others(25): Show ATGTATATACATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA18522.hp1 NA18962.hp1 HG02976.hp1 NA18522.hp1 NA18962.hp1	a0004 a0006 a0012 a0004 a0006 a0012	a0004c0007 a0006c0014 a0012c0020 a0004c0007 a0006c0014 a0012c0020	a0004c0007t0001 a0006c0014t0051 a0012c0020t0014 a0004c0007t0001 a0006c0014t0051 a0012c0020t0014	a0004c0007t0001g0125 a0006c0014t0051g0153 a0012c0020t0014g0193 a0004c0007t0001g0125 a0006c0014t0051g0153 a0012c0020t0014g0193	3	310	0.0097	-32	c.106 others(51): Show c.106-16184_106-16153delGTATATACATATATATATATATATAT ATATGT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPR_chr3_63273308_63621924	63336519	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0155 a0001c0001t0003g0155	1	246	0.0041	-32	c.84+ others(49): Show c.84+57789_84+57820delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT15B_chr10_47739717_47768592	47743323	TATATACA others(25): Show TATATACATATATATATACATATATATATATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	340	0.0029	-32	c.10 others(45): Show c.10817_*10848delGTATATATATATATGTATATATATATGTATAT	SYT15B	ENSG00000277758.6	transcript	ENST00000615923.4	protein_coding		1393		chr10	TogoVar
SYT16_chr14_61807703_62117550	62092173	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0002 a0001c0002t0026g0002	1	174	0.0058	-32	c.162 others(51): Show c.1624+7811_1624+7842delACACACACACACACACACACACACAC ACACAC	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT1_chr12_78859774_79457008	78931327	GGGAGGGA others(25): Show GGGAGGGAGGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0041 a0001c0002t0015g0041	1	62	0.0161	-32	c.-21 others(53): Show c.-216-46468_-216-46437delGGGAGGGAAGGAAGGAAGGAAGGA AGGAAGGA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	79117662	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0034 a0001c0002t0019g0034	1	62	0.0161	-32	c.-18 others(51): Show c.-18+70322_-18+70353delTATATATATATATATATATATATATA TATATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	79446003	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA20300.hp2 HG02559.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0001 a0001c0001t0006g0001	2	62	0.0323	-32	c.106 others(51): Show c.1062+1798_1062+1829delTATATATATATATATATATATATATA TATATT	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	10/10			chr12	TogoVar
SYT9_chr11_7246904_7474043	7432562	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAATATATATACAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0254 a0001c0001t0006g0254	1	272	0.0037	-32	c.146 others(53): Show c.1467+11929_1467+11960delAAAAAAAAAAAAAAAAAAAATATA TATACATA	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYT9_chr11_7246904_7474043	7432576	AAAAAAAA others(25): Show AAAAAAAATATATATACATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	272	0.0037	-32	c.146 others(53): Show c.1467+11943_1467+11974delAAAAAATATATATACATATATATA TATATATA	SYT9	ENSG00000170743.17	transcript	ENST00000318881.11	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYTL2_chr11_85689229_85816141	85789338	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp2 HG00609.hp1 others(56): Show HG00408.hp1 HG00558.hp2 HG00609.hp1 HG00735.hp2 HG01069.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02074.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02523.hp2 HG02683.hp1 HG03239.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18943.hp2 NA18946.hp2 NA18951.hp2 NA18957.hp2 NA18966.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18978.hp1 NA18982.hp2 NA18985.hp2 NA18988.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19011.hp1 NA19054.hp2 NA19068.hp1 NA19077.hp1 NA19087.hp1 NA19088.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0008 a0013 a0027 a0034	a0001c0001 a0002c0002 a0002c0003 others(5): Show a0001c0001 a0002c0002 a0002c0003 a0004c0004 a0008c0008 a0013c0015 a0027c0026 a0034c0027	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(7): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0003t0002 a0002c0003t0009 a0004c0004t0012 a0008c0008t0002 a0013c0015t0002 a0027c0026t0002 a0034c0027t0001	a0001c0001t0001g0113 a0002c0002t0001g0093 a0002c0002t0002g0066 others(56): Show a0001c0001t0001g0113 a0002c0002t0001g0093 a0002c0002t0002g0066 a0002c0002t0002g0069 a0002c0002t0002g0073 a0002c0002t0002g0076 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0149 a0002c0002t0002g0159 a0002c0002t0002g0352 a0002c0003t0002g0131 a0002c0003t0002g0133 a0002c0003t0002g0134 a0002c0003t0002g0135 a0002c0003t0002g0136 a0002c0003t0002g0137 a0002c0003t0002g0141 a0002c0003t0002g0144 a0002c0003t0002g0145 a0002c0003t0002g0155 a0002c0003t0009g0156 a0004c0004t0012g0098 a0008c0008t0002g0067 a0008c0008t0002g0089 a0008c0008t0002g0091 a0008c0008t0002g0092 a0008c0008t0002g0118 a0013c0015t0002g0132 a0013c0015t0002g0138 a0027c0026t0002g0074 a0034c0027t0001g0143	59	366	0.1612	-32	c.-39 others(53): Show c.-390+21584_-390+21615delTATATATATATATATATATATATA TATATACA	SYTL2	ENSG00000137501.18	transcript	ENST00000359152.10	protein_coding	1/19			chr11	TogoVar
SYTL2_chr11_85689229_85816141	85789346	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0080 a0002c0002t0002g0080	1	366	0.0027	-32	c.-39 others(53): Show c.-390+21576_-390+21607delCATATATATATATATATATATATA TATATATA	SYTL2	ENSG00000137501.18	transcript	ENST00000359152.10	protein_coding	1/19			chr11	TogoVar
TACC3_chr4_1716521_1750171	1740542	GGCCTCAC others(25): Show GGCCTCACCCTAGGCTCTAGGGTGTTGGGCGCC	G G	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0001 a0016c0028t0001	a0016c0028t0001g0232 a0016c0028t0001g0232	1	344	0.0029	-32	c.206 others(49): Show c.2063-278_2063-247delACCCTAGGCTCTAGGGTGTTGGGCGCCG CCTC	TACC3	ENSG00000013810.21	transcript	ENST00000313288.9	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
TACR2_chr10_69398903_69421918	69408859	CCCCCGCC others(25): Show CCCCCGCCAGCCCCCCGCCCCCTCCAGGCCCCG	C C	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	382	0.0026	-32	c.741 others(45): Show c.741+31_741+62delCGGGGCCTGGAGGGGGCGGGGGGCTGGCGGGG	TACR2	ENSG00000075073.16	transcript	ENST00000373306.5	protein_coding	3/4			chr10	TogoVar
TACR2_chr10_69398903_69421918	69408868	GCCCCCCG others(25): Show GCCCCCCGCCCCCTCCAGGCCCCGCCCCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0205 a0003c0003t0003g0205	1	382	0.0026	-32	c.741 others(45): Show c.741+22_741+53delTGGAGGGGGCGGGGCCTGGAGGGGGCGGGGGG	TACR2	ENSG00000075073.16	transcript	ENST00000373306.5	protein_coding	3/4			chr10	TogoVar
TAF1D_chr11_93730567_93746495	93736660	CCAAAATG others(25): Show CCAAAATGGAATAGGAAAAAAATAAGTCACTTA	C C	splice_donor_variant others(2): Show splice_donor_variant splice_region_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	428	0.0023	-32	c.693 others(44): Show c.693+2_693+33delTAAGTGACTTATTTTTTTCCTATTCCATTTTG	TAF1D	ENSG00000166012.17	transcript	ENST00000448108.7	protein_coding	5/5			chr11	TogoVar
TAF3_chr10_7813505_8021631	7859260	CAATAAAT others(25): Show CAATAAATAAATAAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02132.hp2 NA19082.hp1 HG01192.hp1 HG02132.hp2 NA19082.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0001 a0006c0006t0001 a0006c0006t0002 a0001c0001t0001 a0006c0006t0001 a0006c0006t0002	a0001c0001t0001g0110 a0006c0006t0001g0111 a0006c0006t0002g0112 a0001c0001t0001g0110 a0006c0006t0001g0111 a0006c0006t0002g0112	3	344	0.0087	-32	c.409 others(51): Show c.409+34727_409+34758delTAAATAAATAAATAAATAAATAAATA AATAAA	TAF3	ENSG00000165632.9	transcript	ENST00000344293.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
TAF4B_chr18_26221445_26396685	26393430	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG01074.hp1 HG01106.hp2 others(18): Show HG00558.hp1 HG01074.hp1 HG01106.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01496.hp2 HG02109.hp2 HG02559.hp2 HG02886.hp1 HG03209.hp2 HG03225.hp2 HG03491.hp1 HG04199.hp1 NA18977.hp1 NA19030.hp1 NA19043.hp2 NA19068.hp2 NA19240.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0012	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0002c0004 a0002c0010 a0003c0006 a0004c0007 a0012c0020	a0001c0001t0001 a0001c0001t0014 a0001c0002t0005 others(8): Show a0001c0001t0001 a0001c0001t0014 a0001c0002t0005 a0001c0002t0012 a0001c0002t0021 a0001c0005t0006 a0002c0004t0002 a0002c0010t0019 a0003c0006t0009 a0004c0007t0002 a0012c0020t0012	a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0103 others(18): Show a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0103 a0001c0001t0014g0072 a0001c0002t0005g0015 a0001c0002t0012g0029 a0001c0002t0012g0030 a0001c0002t0012g0031 a0001c0002t0012g0032 a0001c0002t0021g0223 a0001c0002t0021g0224 a0001c0005t0006g0253 a0001c0005t0006g0258 a0002c0004t0002g0211 a0002c0004t0002g0213 a0002c0004t0002g0221 a0002c0010t0019g0245 a0002c0010t0019g0246 a0003c0006t0009g0173 a0004c0007t0002g0269 a0012c0020t0012g0244	21	274	0.0766	-32	c.34 others(43): Show c.3419_*3450delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TAF4B	ENSG00000141384.13	transcript	ENST00000269142.10	protein_coding		1746		chr18	TogoVar
TAFA1_chr3_67999247_68550621	68120171	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02647.hp1 HG02897.hp2 others(4): Show HG01884.hp2 HG02647.hp1 HG02897.hp2 HG03139.hp1 HG03225.hp1 HG03492.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0129 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0129 a0001c0001t0002g0026 a0001c0001t0009g0155 a0001c0001t0010g0127 a0001c0001t0014g0073	7	156	0.0449	-32	c.118 others(53): Show c.118+113489_118+113520delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	TAFA1	ENSG00000183662.12	transcript	ENST00000478136.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAFA5_chr22_48484553_48756932	48656727	CATTTTTT others(25): Show CATTTTTTTTTCTTTTGAGATGGAGTCTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0080 a0001c0001t0005g0080	1	258	0.0039	-32	c.262 others(50): Show c.262+9982_262+10013delATTTTTTTTTCTTTTGAGATGGAGTCT CTTTT	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	2/3			chr22	TogoVar
TAGLN2_chr1_159913111_159930507	159923560	ACAGGAGA others(25): Show ACAGGAGAACTTCCCAACTCAGATTTGGGACAG	A A	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	446	0.0022	-32	c.-29 others(49): Show c.-29+1858_-29+1889delCTGTCCCAAATCTGAGTTGGGAAGTTCT CCTG	TAGLN2	ENSG00000158710.15	transcript	ENST00000368097.9	protein_coding	1/4			chr1	TogoVar
TAMALIN_chr12_52001946_52020889	52012333	AGCCTCTG others(25): Show AGCCTCTGCCTCCCAGATTCAAGCAATTCTCCT	A A	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	380	0.0026	-32	c.454 others(49): Show c.454+1198_454+1229delTGCCTCCCAGATTCAAGCAATTCTCCTG CCTC	TAMALIN	ENSG00000161835.11	transcript	ENST00000293662.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TANC1_chr2_158963640_159237659	159117921	GTACTGGA others(25): Show GTACTGGAGTTTTTCTGTACTGGAGTTTTTCTC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	258	0.0039	-32	c.260 others(51): Show c.260-18257_260-18226delGTACTGGAGTTTTTCTCTACTGGAGT TTTTCT	TANC1	ENSG00000115183.15	transcript	ENST00000263635.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
TANC1_chr2_158963640_159237659	159117945	GTTTTTCT others(25): Show GTTTTTCTCTACTGGAGTTTTTCTCTACTGGAA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01192.hp1 HG01358.hp1 HG00735.hp1 HG01192.hp1 HG01358.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0003g0244 a0001c0001t0003g0246 a0003c0003t0001g0243 a0001c0001t0003g0244 a0001c0001t0003g0246 a0003c0003t0001g0243	3	258	0.0116	-32	c.260 others(51): Show c.260-18241_260-18210delCTACTGGAGTTTTTCTCTACTGGAAT TTTTCT	TANC1	ENSG00000115183.15	transcript	ENST00000263635.8	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr2	TogoVar

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Search Results (Total: 5012 hits)