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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RSF1_chr11_77655009_77825722	77671137	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 NA19063.hp1 HG01168.hp1 NA19063.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0013 a0001c0001 a0010c0013	a0001c0001t0053 a0010c0013t0007 a0001c0001t0053 a0010c0013t0007	a0001c0001t0053g0191 a0010c0013t0007g0262 a0001c0001t0053g0191 a0010c0013t0007g0262	2	352	0.0057	-23	c.375 others(40): Show c.3751+882_3751+904delATATATATATATATATATATATT		RSF1	ENSG00000048649.14	transcript	ENST00000308488.11	protein_coding	15/15						chr11	TogoVar
RSPH6A_chr19_45790713_45820308	45806670	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0296 a0002c0002t0001g0296	1	424	0.0024	-23	c.889 others(40): Show c.889-1677_889-1655delTTTTTTTTTTTTTTTTTTTTTTT		RSPH6A	ENSG00000104941.8	transcript	ENST00000221538.8	protein_coding	2/5						chr19	TogoVar
RSPO2_chr8_107894316_108088620	107923743	AAAGAACA others(16): Show AAAGAACAAGAGCATGTCCTTTGC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01099.hp1 others(19): Show HG00323.hp1 HG00733.hp1 HG01099.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03927.hp1 NA18942.hp1 NA18945.hp2 NA18999.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0117 a0002c0002t0001g0016 a0002c0002t0001g0027 others(19): Show a0001c0001t0003g0117 a0002c0002t0001g0016 a0002c0002t0001g0027 a0002c0002t0001g0031 a0002c0002t0001g0048 a0002c0002t0001g0056 a0002c0002t0001g0081 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0109 a0002c0002t0001g0136 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0180 a0002c0002t0001g0224 a0002c0002t0001g0225	22	240	0.0917	-23	c.617 others(42): Show c.617-22576_617-22554delGCAAAGGACATGCTCTTGTTCTT		RSPO2	ENSG00000147655.12	transcript	ENST00000276659.10	protein_coding	5/5						chr8	TogoVar
RSRC2_chr12_122498454_122531936	122507482	CATTTGTC others(16): Show CATTTGTCATTGCAAATAATGTCA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03491.hp2 HG03492.hp1 HG02451.hp2 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0057 a0001c0001t0021g0232 a0001c0001t0021g0057 a0001c0001t0021g0232	3	382	0.0079	-23	c.103 others(40): Show c.1036-582_1036-560delTGACATTATTTGCAATGACAAAT		RSRC2	ENSG00000111011.18	transcript	ENST00000331738.12	protein_coding	8/9						chr12	TogoVar
RTL4_chrX_112078016_112462514	112390669	GCCTGATG others(16): Show GCCTGATGGGGTTCCCTTTGGTAA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02145.hp1 others(5): Show HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02451.hp1 HG02622.hp1 HG02922.hp1 HG03130.hp1 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0002 a0001c0002t0004 a0001c0002t0019 others(2): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0019 a0001c0003t0005 a0002c0001t0001	a0001c0002t0002g0027 a0001c0002t0002g0109 a0001c0002t0002g0118 others(5): Show a0001c0002t0002g0027 a0001c0002t0002g0109 a0001c0002t0002g0118 a0001c0002t0004g0018 a0001c0002t0019g0127 a0001c0003t0005g0016 a0002c0001t0001g0019 a0002c0001t0001g0026	8	134	0.0597	-23	c.-28 others(44): Show c.-284-40425_-284-40403delGTAACCTGATGGGGTTCCCTTTG		RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chrX	TogoVar
RTP2_chr3_187693259_187707557	187699742	CACACACA others(16): Show CACACACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG02055.hp1 others(14): Show HG00099.hp1 HG00735.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02630.hp2 HG02965.hp2 HG02976.hp2 HG03209.hp2 HG03486.hp1 HG03579.hp2 NA19030.hp1 NA19030.hp2 NA20129.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0014 a0002c0002t0002 a0002c0002t0014	a0002c0002t0002g0004 a0002c0002t0014g0092 a0002c0002t0002g0004 a0002c0002t0014g0092	17	422	0.0403	-23	c.165 others(38): Show c.165-754_165-732delTGTGTGTGTGTGTGTGTGTGTGT		RTP2	ENSG00000198471.1	transcript	ENST00000358241.1	protein_coding	1/1						chr3	TogoVar
RUBCN_chr3_197663867_197741904	197675726	CCGGAGAA others(16): Show CCGGAGAAGCTCCGACCCCCAGCG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0040 a0008c0011t0040	a0008c0011t0040g0006 a0008c0011t0040g0006	1	186	0.0054	-23	c.264 others(40): Show c.2647-234_2647-212delCGCTGGGGGTCGGAGCTTCTCCG		RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	18/19						chr3	TogoVar
RUBCN_chr3_197663867_197741904	197707795	TCTCTACT others(16): Show TCTCTACTAAAGATACAAAAATTA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02257.hp2 others(8): Show HG01891.hp1 HG02055.hp1 HG02257.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03942.hp1 homoSapiens_chm13v2.hp1	a0004 a0008 a0004 a0008	a0004c0005 a0008c0011 a0004c0005 a0008c0011	a0004c0005t0005 a0004c0005t0012 a0004c0005t0025 others(1): Show a0004c0005t0005 a0004c0005t0012 a0004c0005t0025 a0008c0011t0040	a0004c0005t0005g0150 a0004c0005t0005g0151 a0004c0005t0005g0154 others(8): Show a0004c0005t0005g0150 a0004c0005t0005g0151 a0004c0005t0005g0154 a0004c0005t0005g0157 a0004c0005t0005g0158 a0004c0005t0005g0162 a0004c0005t0012g0152 a0004c0005t0012g0153 a0004c0005t0012g0156 a0004c0005t0025g0155 a0008c0011t0040g0006	11	186	0.0591	-23	c.220 others(40): Show c.220-2643_220-2621delTAATTTTTGTATCTTTAGTAGAG		RUBCN	ENSG00000145016.17	transcript	ENST00000296343.10	protein_coding	2/19						chr3	TogoVar
RUNDC3B_chr7_87623398_87837296	87736869	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0148 a0001c0001t0042g0148	1	202	0.0050	-23	c.459 others(40): Show c.459-2920_459-2898delATATATATATATATATATATTTT		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87736871	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01952.hp2 HG02965.hp1 others(2): Show HG01496.hp1 HG01952.hp2 HG02965.hp1 NA18974.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0029 others(1): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0029 a0001c0001t0044	a0001c0001t0002g0137 a0001c0001t0002g0167 a0001c0001t0018g0172 others(2): Show a0001c0001t0002g0137 a0001c0001t0002g0167 a0001c0001t0018g0172 a0001c0001t0029g0178 a0001c0001t0044g0033	5	202	0.0248	-23	c.459 others(40): Show c.459-2918_459-2896delATATATATATATATATATTTTTT		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
RUNDC3B_chr7_87623398_87837296	87736877	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0070 a0001c0001t0070	a0001c0001t0070g0017 a0001c0001t0070g0017	1	202	0.0050	-23	c.459 others(40): Show c.459-2912_459-2890delATATATATATATTTTTTTTTTTT		RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr7	TogoVar
RYR1_chr19_38428691_38592564	38590381	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0085 a0001c0085	a0001c0085t0001 a0001c0085t0001	a0001c0085t0001g0198 a0001c0085t0001g0198	1	218	0.0046	-23	c.29 others(34): Show c.2962_*2984delAAAAAAAAAAAAAATATATATAT		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding					2818		chr19	TogoVar
RYR1_chr19_38428691_38592564	38590387	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01106.hp1 HG01175.hp2 others(1): Show HG01070.hp1 HG01106.hp1 HG01175.hp2 HG03942.hp1	a0001 a0009 a0030 a0001 a0009 a0030	a0001c0019 a0001c0105 a0009c0104 others(1): Show a0001c0019 a0001c0105 a0009c0104 a0030c0048	a0001c0019t0002 a0001c0105t0001 a0009c0104t0001 others(1): Show a0001c0019t0002 a0001c0105t0001 a0009c0104t0001 a0030c0048t0001	a0001c0019t0002g0217 a0001c0105t0001g0089 a0009c0104t0001g0013 others(1): Show a0001c0019t0002g0217 a0001c0105t0001g0089 a0009c0104t0001g0013 a0030c0048t0001g0118	4	218	0.0184	-23	c.29 others(34): Show c.2968_*2990delAAAAAAAATATATATATATATAT		RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding					2824		chr19	TogoVar
RYR2_chr1_237037184_237838988	237056594	CAGCACTG others(16): Show CAGCACTGCACCTGTGAGGACTGG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02486.hp1 HG02559.hp2 others(8): Show HG01099.hp2 HG02486.hp1 HG02559.hp2 HG02922.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 NA19043.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0008 others(8): Show a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0001c0018 a0001c0019 a0001c0028 a0001c0048 a0002c0025 a0002c0031 a0002c0035	a0001c0002t0026 a0001c0004t0030 a0001c0008t0042 others(8): Show a0001c0002t0026 a0001c0004t0030 a0001c0008t0042 a0001c0010t0029 a0001c0018t0032 a0001c0019t0022 a0001c0028t0007 a0001c0048t0001 a0002c0025t0040 a0002c0031t0025 a0002c0035t0021	a0001c0002t0026g0059 a0001c0004t0030g0005 a0001c0008t0042g0002 others(8): Show a0001c0002t0026g0059 a0001c0004t0030g0005 a0001c0008t0042g0002 a0001c0010t0029g0051 a0001c0018t0032g0041 a0001c0019t0022g0035 a0001c0028t0007g0062 a0001c0048t0001g0007 a0002c0025t0040g0003 a0002c0031t0025g0056 a0002c0035t0021g0010	11	100	0.1100	-23	c.48+ others(40): Show c.48+14051_48+14073delCACTGCACCTGTGAGGACTGGAG		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33336447	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02896.hp2 HG03225.hp2 others(4): Show HG02622.hp2 HG02896.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0028	a0001c0010 a0001c0083 a0002c0087 others(4): Show a0001c0010 a0001c0083 a0002c0087 a0003c0078 a0005c0022 a0005c0029 a0028c0074	a0001c0010t0001 a0001c0083t0001 a0002c0087t0001 others(4): Show a0001c0010t0001 a0001c0083t0001 a0002c0087t0001 a0003c0078t0003 a0005c0022t0002 a0005c0029t0001 a0028c0074t0002	a0001c0010t0001g0142 a0001c0083t0001g0143 a0002c0087t0001g0039 others(4): Show a0001c0010t0001g0142 a0001c0083t0001g0143 a0002c0087t0001g0039 a0003c0078t0003g0024 a0005c0022t0002g0147 a0005c0029t0001g0075 a0028c0074t0002g0148	7	154	0.0455	-23	c.51+ others(40): Show c.51+25352_51+25374delGAGAGAGAGAGAGAGAGAGAGAG		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103						chr15	TogoVar
RYR3_chr15_33305967_33871102	33336451	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02809.hp2 HG01070.hp1 HG01071.hp2 HG02809.hp2	a0001 a0015 a0001 a0015	a0001c0046 a0015c0011 a0001c0046 a0015c0011	a0001c0046t0011 a0015c0011t0009 a0001c0046t0011 a0015c0011t0009	a0001c0046t0011g0065 a0015c0011t0009g0066 a0015c0011t0009g0067 a0001c0046t0011g0065 a0015c0011t0009g0066 a0015c0011t0009g0067	3	154	0.0195	-23	c.51+ others(40): Show c.51+25356_51+25378delGAGAGAGAGAGAGAGAGAGAGAG		RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103						chr15	TogoVar
SAA1_chr11_18261264_18274967	18265030	AGAAGAAG others(16): Show AGAAGAAGGGAGGAAGAAAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	442	0.0023	-23	c.-12 others(34): Show c.-1270_-1248delGAAGAAGGGAGGAAGAAAAGAAG		SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding					1233		chr11	TogoVar
SAMD10_chr20_63969116_63984642	63970757	TCCTTCCC others(16): Show TCCTTCCCTCCCTTCTCTTCCTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	342	0.0029	-23	c.47 others(34): Show c.4730_*4752delGAAGGAAGAGAAGGGAGGGAAGG		SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding					3358		chr20	TogoVar
SAMD15_chr14_77372379_77397163	77372907	TATATATA others(16): Show TATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01517.hp1 HG01099.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0130 a0002c0002t0002g0037 a0002c0002t0002g0130	2	314	0.0064	-23	c.-45 others(34): Show c.-4511_-4489delATATATATATATATATATATATA		SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding					4471		chr14	TogoVar
SAMD15_chr14_77372379_77397163	77372934	ATATATAT others(16): Show ATATATATATATATATATATTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0094 a0002c0004t0004g0094	1	314	0.0032	-23	c.-44 others(34): Show c.-4484_-4462delTATATATATATATATATATTTTT		SAMD15	ENSG00000100583.5	transcript	ENST00000216471.5	protein_coding					4444		chr14	TogoVar
SAP25_chr7_100567228_100578900	100570843	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	-23	c.14 others(34): Show c.1421_*1443delTTTTTTTTTTTTTTTTTTTTTTT		SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding					1384		chr7	TogoVar
SARDH_chr9_133658560_133743352	133668383	GCCTCCCT others(16): Show GCCTCCCTCTCCCTCTCCCTTCAC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0175 a0001c0007t0001g0175	1	262	0.0038	-23	c.249 others(42): Show c.2496-1536_2496-1514delGTGAAGGGAGAGGGAGAGGGAGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133668471	CCCCTCGC others(16): Show CCCCTCGCCCTCCCTCTCCCCTCA	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03453.hp2 HG04204.hp2 HG02809.hp1 HG03453.hp2 HG04204.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0014 a0003c0061 a0004c0023 a0002c0014 a0003c0061 a0004c0023	a0002c0014t0002 a0003c0061t0002 a0004c0023t0005 a0002c0014t0002 a0003c0061t0002 a0004c0023t0005	a0002c0014t0002g0230 a0003c0061t0002g0225 a0004c0023t0005g0002 a0002c0014t0002g0230 a0003c0061t0002g0225 a0004c0023t0005g0002	3	262	0.0115	-23	c.249 others(42): Show c.2496-1624_2496-1602delTGAGGGGAGAGGGAGGGCGAGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133668717	ACCCTCCC others(16): Show ACCCTCCCTCTCCCCTTACCCTCC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0003 a0002c0020t0003	a0002c0020t0003g0207 a0002c0020t0003g0207	1	262	0.0038	-23	c.249 others(42): Show c.2495+1844_2496-1848delGGAGGGTAAGGGGAGAGGGAGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SASH3_chrX_129774949_129800201	129789145	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18972.hp1 HG00621.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	2	307	0.0065	-23	c.300 others(38): Show c.300+572_300+594delGAAAGAAAGAAAGAAAGAGAAAA		SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
SAT1_chrX_23778173_23791210	23781874	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG03130.hp1 NA18991.hp1 others(3): Show HG01070.hp1 HG03130.hp1 NA18991.hp1 NA18991.hp2 NA19007.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0016 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0025	6	330	0.0182	-23	c.-14 others(34): Show c.-1477_-1455delAAAAAAAAAAAAAAAAAAAAAAA		SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding					1298		chrX	TogoVar
SBF2_chr11_9773668_10299219	9967970	TCTATATA others(16): Show TCTATATATATATATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18973.hp2 NA19012.hp2 HG00609.hp2 NA18973.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0077 a0001c0001t0003g0076 a0001c0001t0003g0091 a0001c0001t0001g0077 a0001c0001t0003g0076 a0001c0001t0003g0091	3	224	0.0134	-23	c.160 others(40): Show c.1600+348_1600+370delTTTATATATATATATATATATAG		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	14/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	10109691	CCACATAA others(16): Show CCACATAACATTATGTACTAGAAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0131 a0002c0002t0004g0131	1	224	0.0045	-23	c.142 others(42): Show c.142-66733_142-66711delCTTCTAGTACATAATGTTATGTG		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	10179364	AACAAAAA others(16): Show AACAAAAAACAAAAACAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02683.hp1 HG03831.hp2 HG01109.hp2 HG02683.hp1 HG03831.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0001c0001t0004 a0005c0006t0004 a0001c0001t0002 a0001c0001t0004 a0005c0006t0004	a0001c0001t0002g0220 a0001c0001t0004g0218 a0005c0006t0004g0217 a0001c0001t0002g0220 a0001c0001t0004g0218 a0005c0006t0004g0217	3	224	0.0134	-23	c.141 others(42): Show c.141+14515_141+14537delGTTTTTTTGTTTTTGTTTTTTGT		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	10241321	TCTGGCCT others(16): Show TCTGGCCTGGGTAACAGAGCGAGA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp2 HG01943.hp2 others(9): Show HG01109.hp1 HG01346.hp2 HG01943.hp2 HG02572.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG03209.hp2 HG03453.hp1 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0005 a0006c0009 a0001c0001 a0001c0005 a0006c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0018 a0001c0005t0001 a0001c0005t0009 a0006c0009t0001	a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0005g0187 others(9): Show a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0005g0187 a0001c0001t0005g0202 a0001c0001t0018g0222 a0001c0005t0001g0195 a0001c0005t0001g0201 a0001c0005t0001g0204 a0001c0005t0009g0198 a0001c0005t0009g0203 a0006c0009t0001g0197 a0006c0009t0001g0199	12	224	0.0536	-23	c.56- others(40): Show c.56-47357_56-47335delTCTCGCTCTGTTACCCAGGCCAG		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39						chr11	TogoVar
SBF2_chr11_9773668_10299219	10254900	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03139.hp1 HG02486.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0174 a0001c0001t0003g0175	2	224	0.0089	-23	c.55+ others(40): Show c.55+39092_55+39114delTTTTTTTTTTTTTTTTTTTTTTT		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39						chr11	TogoVar
SBK2_chr19_55523611_55542133	55533659	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	434	0.0023	-23	c.254 others(40): Show c.254-2337_254-2315delTTTTTTTTTTTTTTTTTTTTTTT		SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	2/3						chr19	TogoVar
SBNO1_chr12_123284109_123369847	123338889	CCCCGACA others(16): Show CCCCGACACACACACACACACACG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG02818.hp1 others(1): Show HG01884.hp1 HG02451.hp1 HG02818.hp1 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0016 a0001c0005t0015 a0001c0005t0016	a0001c0005t0015g0205 a0001c0005t0015g0206 a0001c0005t0015g0207 others(1): Show a0001c0005t0015g0205 a0001c0005t0015g0206 a0001c0005t0015g0207 a0001c0005t0016g0097	4	260	0.0154	-23	c.651 others(40): Show c.651+2076_651+2098delCGTGTGTGTGTGTGTGTGTCGGG		SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	5/31						chr12	TogoVar
SCAF1_chr19_49637209_49663642	49660005	ACACACAC others(16): Show ACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0002 a0001c0003t0002g0002	1	382	0.0026	-23	c.16 others(34): Show c.1607_*1629delCACACACACACACACACACACAC		SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding					1364		chr19	TogoVar
SCAI_chr9_124937608_125148528	125004759	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03225.hp2 HG01256.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0125 a0001c0001t0002g0079 a0001c0001t0002g0125	2	306	0.0065	-23	c.862 others(40): Show c.862-1212_862-1190delAAATATATATATATATATATATA		SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17						chr9	TogoVar
SCAI_chr9_124937608_125148528	125004763	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0078 a0001c0001t0028g0078	1	306	0.0033	-23	c.862 others(40): Show c.862-1216_862-1194delAAAAAAATATATATATATATATA		SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17						chr9	TogoVar
SCAI_chr9_124937608_125148528	125004771	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0136 a0001c0001t0037g0136	1	306	0.0033	-23	c.862 others(40): Show c.862-1224_862-1202delAAAAAAAAAAAAAAATATATATA		SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	9/17						chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78469910	AAACAAAA others(16): Show AAACAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp2 HG01167.hp1 others(31): Show HG00733.hp1 HG00741.hp2 HG01167.hp1 HG01243.hp2 HG02055.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 others(6): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0017 a0001c0001t0023 a0001c0001t0026 a0001c0001t0031 a0001c0002t0011 a0002c0003t0007	a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0145 others(31): Show a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0006g0003 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0011g0158 a0001c0001t0017g0154 a0001c0001t0017g0155 a0001c0001t0023g0007 a0001c0001t0026g0172 a0001c0001t0031g0266 a0001c0002t0011g0018 a0002c0003t0007g0163 a0002c0003t0007g0165 a0002c0003t0007g0166 a0002c0003t0007g0168 a0002c0003t0007g0169 a0002c0003t0007g0170 a0002c0003t0007g0171	34	332	0.1024	-23	c.853 others(40): Show c.853-5588_853-5566delAAAAAAAAAAAAAAAAACAACAA		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP3_chr1_155250981_155267360	155258317	CCTTTTTT others(16): Show CCTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	375	0.0027	-23	c.517 others(38): Show c.517+486_517+508delAAAAAAAAAAAAAAAAAAAAAAG		SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding	5/8						chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155258318	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(198): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01257.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0008 a0001c0009 others(2): Show a0001c0001 a0001c0008 a0001c0009 a0003c0010 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0008t0001 a0001c0009t0001 a0003c0010t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0002g0095 a0001c0001t0003g0006 a0001c0001t0003g0025 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0004g0013 a0001c0001t0007g0038 a0001c0008t0001g0049 a0001c0009t0001g0050 a0003c0010t0001g0059 a0005c0007t0001g0054	201	375	0.5360	-23	c.517 others(38): Show c.517+485_517+507delAAAAAAAAAAAAAAAAAAAAAAA		SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding	5/8						chr1	TogoVar
SCAPER_chr15_76342904_76910340	76652272	AAATATAT others(16): Show AAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02735.hp1 HG02622.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0108 a0001c0001t0001g0035 a0001c0001t0001g0108	2	312	0.0064	-23	c.264 others(44): Show c.2645+13358_2645+13380delATATATATATATATATATATATT		SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31						chr15	TogoVar
SCAPER_chr15_76342904_76910340	76726333	CTTCAATA others(16): Show CTTCAATAAGGCTATTTTTAGAAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG02109.hp1 HG01243.hp1 HG01255.hp2 HG02109.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0167 a0001c0010t0001g0168 a0001c0010t0001g0169 a0001c0010t0001g0167 a0001c0010t0001g0168 a0001c0010t0001g0169	3	312	0.0096	-23	c.216 others(42): Show c.2165+2239_2165+2261delTTTCTAAAAATAGCCTTATTGAA		SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	17/31						chr15	TogoVar
SCFD1_chr14_30617319_30740850	30619725	ATCGTTTA others(16): Show ATCGTTTATATGTCAGCCTATTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01074.hp2 others(27): Show HG00544.hp2 HG00741.hp1 HG01074.hp2 HG02015.hp1 HG02027.hp1 HG02129.hp2 HG02132.hp1 HG02523.hp1 HG02630.hp2 HG03098.hp2 HG03688.hp1 HG04115.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18946.hp2 NA18947.hp1 NA18959.hp1 NA18968.hp1 NA18974.hp1 NA18978.hp2 NA18992.hp2 NA18999.hp2 NA19011.hp2 NA19012.hp1 NA19082.hp1 NA19088.hp2 NA19091.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0014 a0005c0009 a0001c0001 a0001c0014 a0005c0009	a0001c0001t0001 a0001c0014t0001 a0005c0009t0001 a0001c0001t0001 a0001c0014t0001 a0005c0009t0001	a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0118 others(27): Show a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0014t0001g0133 a0005c0009t0001g0117	30	328	0.0915	-23	c.-26 others(34): Show c.-2613_-2591delTCGTTTATATGTCAGCCTATTTC		SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding					2593		chr14	TogoVar
SCG3_chr15_51676503_51726026	51709681	ATATATAT others(16): Show ATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	402	0.0025	-23	c.120 others(42): Show c.1208-3650_1208-3628delATATATATATATATATATATTTT		SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C2_chr17_132569_144067	136282	CCCCTAAC others(16): Show CCCCTAACCCCTAACCAACCCTAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0021 a0001c0005t0001g0021	1	402	0.0025	-23	c.-13 others(34): Show c.-1308_-1286delCCCTAACCCCTAACCAACCCTAA		SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding					1286		chr17	TogoVar
SCGB1C2_chr17_132569_144067	138273	AGAGGAGC others(16): Show AGAGGAGCTCTATGAGGGGACCTT	A A	frameshift_variant frameshift_variant	HIGH	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0002 a0006c0007t0001g0002	1	402	0.0025	-23	c.128 others(30): Show c.128_150delAGGAGCTCTATGAGGGGACCTTG	p.Glu others(4): Show p.Glu43fs	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding	2/3	150/435	128/288	43/95		INFO_REALIGN_3_PRIME	chr17	TogoVar
SCGN_chr6_25647215_25706783	25658002	CCTTTTTT others(16): Show CCTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0323 a0001c0001t0006g0323	1	368	0.0027	-23	c.154 others(40): Show c.154-3549_154-3527delCTTTTTTTTTTTTTTTTTTTTTT		SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10						chr6	TogoVar
SCGN_chr6_25647215_25706783	25658003	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0334 a0001c0001t0003g0334	1	368	0.0027	-23	c.154 others(40): Show c.154-3517_154-3495delTTTTTTTTTTTTTTTTTTTTTTT		SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159867979	ATATATAT others(16): Show ATATATATATATAAATCAATGATT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA19058.hp1 HG02486.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0007 a0001c0001t0001g0060	2	100	0.0200	-23	c.878 others(40): Show c.878+1723_878+1745delATATATATATAAATCAATGATTT		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCIN_chr7_12565720_12665182	12657556	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0196 a0013c0016t0196	a0013c0016t0196g0132 a0013c0016t0196g0132	1	372	0.0027	-23	c.48 others(34): Show c.4843_*4865delATATATATATATATATTTTTTTT		SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	16/16				4843	INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results (Total: 4709 hits)