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
SQSTM1_chr5_179815905_179843078	179823531	C C	CTAGGGAT others(26): Show CTAGGGATGGGGTCTGGTGCCGTGGTGCTTGGGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0150 a0001c0003t0006g0150	1	462	0.0022	33	c.302 others(48): Show c.302-302_302-270dupTGCTTGGGTTAGGGATGGGGTCTGGTGCCG TGG	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0035 a0001c0003t0012g0035	1	342	0.0029	33	c.206 others(50): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4			chr5	TogoVar
SRF_chr6_43166269_43186506	43181532	C C	CTACTTAG others(26): Show CTACTTAGGGAGGGATGGGGGTATGAACGCGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	33	c.23 others(44): Show c.2342_*2343insTACTTAGGGAGGGATGGGGGTATGAACGCGAGG	SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding		27		chr6	TogoVar
SRGAP1_chr12_63839700_64167217	64144233	T T	TTTGTTGT others(26): Show TTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0128 a0001c0001t0128	a0001c0001t0128g0031 a0001c0001t0128g0031	1	170	0.0059	33	c.15 others(44): Show c.1582_*1583insTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTG	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22	1583	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144882695	C C	CGGGGGCA others(26): Show CGGGGGCACAAAGACGCAAAAAGCCGCGGCGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0005 a0005c0004t0005	a0005c0004t0005g0013 a0005c0004t0005g0013	1	56	0.0179	33	c.94 others(44): Show c.9464_*9465insCGCCGCCGCGGCTTTTTGCGTCTTTGTGCCCCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4592		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121331144	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	274	0.0037	33	c.423 others(50): Show c.423+6533_423+6534insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0155 a0001c0003t0001g0155	1	396	0.0025	33	c.-34 others(50): Show c.-34+5364_-34+5365insAAATATATATATATATATATATATATAT ATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062578	C C	CATTATAT others(26): Show CATTATATATTATATTATATAATATACATTATAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0300 a0001c0003t0001g0300	1	365	0.0027	33	c.562 others(50): Show c.562-1005_562-1004insATATAATGTATATTATATAATATAATAT ATAAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	342	0.0029	33	c.478 others(50): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTTTTTTTTTT TTTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA19085.hp1 NA18974.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0190 a0001c0001t0003g0124 a0001c0001t0003g0190	2	318	0.0063	33	c.164 others(50): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 NA20805.hp1 HG01255.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0269 a0001c0002t0001g0291 a0001c0001t0001g0269 a0001c0002t0001g0291	2	352	0.0057	33	c.-28 others(44): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24676051	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0053 a0001c0001t0004g0053	1	352	0.0028	33	c.37 others(44): Show c.3765_*3766insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2771		chr1	TogoVar
SRSF11_chr1_70216380_70258052	70245160	T T	TATAAATT others(26): Show TATAAATTTAATATATATAAATTATCACTTATAA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19084.hp2 NA18949.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0185 a0001c0001t0001g0127 a0001c0001t0001g0185	2	338	0.0059	33	c.932 others(48): Show c.932+346_932+347insTAAATTTAATATATATAAATTATCACTTAT AAA	SRSF11	ENSG00000116754.14	transcript	ENST00000370949.2	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRSF2_chr17_76729115_76742331	76735938	A A	ATTTTTAA others(26): Show ATTTTTAATTTTTTTTTTAATTTTAATAGGGGGT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	398	0.0025	33	c.7+ others(46): Show c.7+215_*7+216insACCCCCTATTAAAATTAAAAAAAAAATTAAAA A	SRSF2	ENSG00000161547.17	transcript	ENST00000359995.10	protein_coding	2/2			chr17	TogoVar
SRXN1_chr20_641615_658200	642100	T T	TGGGGGGG others(26): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	422	0.0024	33	c.66 others(44): Show c.6613_*6614insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4514		chr20	TogoVar
SRXN1_chr20_641615_658200	642100	T T	TGGGGGGG others(26): Show TGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03579.hp1 NA19240.hp2 HG02970.hp2 HG03579.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0002t0009 a0002c0004t0008 a0001c0001t0003 a0001c0002t0009 a0002c0004t0008	a0001c0001t0003g0015 a0001c0002t0009g0026 a0002c0004t0008g0144 a0001c0001t0003g0015 a0001c0002t0009g0026 a0002c0004t0008g0144	3	422	0.0071	33	c.66 others(44): Show c.6613_*6614insCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4514		chr20	TogoVar
SSBP2_chr5_81407804_81756097	81415922	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp2 HG01975.hp2 HG02135.hp2 others(2): Show HG01928.hp2 HG01975.hp2 HG02135.hp2 HG02523.hp1 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0015 a0001c0001t0009g0019 a0001c0001t0009g0025 others(2): Show a0001c0001t0009g0015 a0001c0001t0009g0019 a0001c0001t0009g0025 a0001c0001t0009g0026 a0001c0001t0009g0034	5	206	0.0243	33	c.45 others(44): Show c.4581_*4582insCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17	4581		chr5	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00140.hp2 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0028 a0001c0001t0004 a0001c0002t0028	a0001c0001t0004g0044 a0001c0002t0028g0278 a0001c0001t0004g0044 a0001c0002t0028g0278	2	280	0.0071	33	c.276 others(52): Show c.276+15177_276+15178insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54396193	G G	GAAAAAAA others(26): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0277 a0001c0001t0010g0277	1	280	0.0036	33	c.276 others(50): Show c.276+5667_276+5668insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATAATT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp2 HG02976.hp1 HG03516.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0405 a0001c0010t0001g0406 a0001c0010t0001g0405 a0001c0010t0001g0406	2	412	0.0049	33	c.138 others(50): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT AATTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02976.hp2 HG02109.hp2 HG02976.hp2	a0016 a0021 a0016 a0021	a0016c0027 a0021c0032 a0016c0027 a0021c0032	a0016c0027t0001 a0021c0032t0001 a0016c0027t0001 a0021c0032t0001	a0016c0027t0001g0394 a0021c0032t0001g0124 a0016c0027t0001g0394 a0021c0032t0001g0124	2	412	0.0049	33	c.138 others(50): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT TTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSR2_chr1_156004048_156025951	156004399	A A	ATATATAT others(26): Show ATATATATATTATATATAAATAAATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA19240.hp2 HG02027.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0179 a0001c0001t0001g0131 a0001c0001t0001g0179	2	356	0.0056	33	c.51 others(44): Show c.5108_*5140dupATATATATTATTTATTTATATATAATATATATA	SSR2	ENSG00000163479.14	transcript	ENST00000295702.9	protein_coding		4648		chr1	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG03831.hp1 NA18522.hp2 HG02717.hp1 HG03831.hp1 NA18522.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0017 a0002c0002t0001g0122 a0003c0003t0001g0033 a0002c0002t0001g0017 a0002c0002t0001g0122 a0003c0003t0001g0033	3	344	0.0087	33	c.58 others(44): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18998.hp2 HG02135.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0056 a0001c0001t0002 a0001c0001t0056	a0001c0001t0002g0067 a0001c0001t0056g0043 a0001c0001t0002g0067 a0001c0001t0056g0043	2	312	0.0064	33	c.-10 others(56): Show c.-1003-10708_-1003-10707insAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST8SIA5_chr18_46662821_46762053	46719682	T T	TCTTTCTT others(26): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0305 a0001c0001t0004g0305	1	362	0.0028	33	c.132 others(52): Show c.132-15019_132-15018insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17333715	A A	AGATATAT others(26): Show AGATATATATATATAGATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	296	0.0034	33	c.378 others(50): Show c.378-2164_378-2163insAAATATATATATATATATCTATATATAT ATATC	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
STAG1_chr3_136331236_136757378	136396520	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	240	0.0042	33	c.227 others(52): Show c.2277+2228_2277+2229insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	22/33			chr3	TogoVar
STARD3_chr17_39632144_39669201	39644672	C C	CAAAAAAA others(26): Show CAAAAAAAGCCCATAGTGAGACCCTGTCTCTACA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	316	0.0032	33	c.-52 others(50): Show c.-52+7448_-52+7449insGCCCATAGTGAGACCCTGTCTCTACAAA AAAAA	STARD3	ENSG00000131748.16	transcript	ENST00000336308.10	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
STARD7_chr2_96179859_96213827	96197077	A A	AAACTAAA others(26): Show AAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	358	0.0028	33	c.291 others(50): Show c.291-1529_291-1528insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STAT2_chr12_56336597_56365107	56345338	A A	AAAATTAG others(26): Show AAAATTAGCTGAGTGTGATTGAGTGTGATGGCGT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	268	0.0037	33	c.210 others(50): Show c.2102+775_2102+807dupACGCCATCACACTCAATCACACTCAGCT AATTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp2 NA19090.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0222 a0001c0001t0001g0160 a0001c0001t0001g0222	2	268	0.0075	33	c.210 others(50): Show c.2102+621_2102+622insATATATATATATATATATATATATATTT TTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	268	0.0037	33	c.210 others(50): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT TTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA19057.hp1 NA20805.hp2 HG03942.hp1 NA19057.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0163 a0001c0001t0001g0194 a0001c0001t0001g0200	3	268	0.0112	33	c.210 others(50): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAATATAT others(26): Show AAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0037 a0002c0002t0001g0037	1	268	0.0037	33	c.210 others(50): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	268	0.0037	33	c.210 others(50): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354012	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19077.hp1 HG01167.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0228 a0001c0001t0001g0055 a0001c0001t0001g0228	2	268	0.0075	33	c.782 others(48): Show c.782+453_782+454insATATATATATATATATATATATATATATAT ATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02451.hp1 HG02040.hp2 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0182 a0001c0001t0001g0126 a0001c0001t0001g0182	2	268	0.0075	33	c.782 others(48): Show c.782+449_782+450insATATATATATATATATATATATATATATTT TTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAATAT others(26): Show AAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03831.hp1 HG02074.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0232 a0001c0001t0001g0121 a0001c0001t0001g0232	2	268	0.0075	33	c.782 others(48): Show c.782+449_782+450insATATATATATATATATATATATATATATAT TTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	268	0.0037	33	c.782 others(48): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATA	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT5B_chr17_42194177_42281391	42265377	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18612.hp2 HG00621.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0165 a0001c0007t0001g0166 a0001c0001t0001g0165 a0001c0007t0001g0166	2	260	0.0077	33	c.-11 others(52): Show c.-11+10870_-11+10871insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0196 a0003c0003t0002g0196	1	384	0.0026	33	c.762 others(52): Show c.762+35592_762+35593insAAATATATATATATATATATATATAT ATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(26): Show ATATATATATATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0295 a0002c0002t0002g0295	1	384	0.0026	33	c.762 others(52): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAATATATAT ATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456973	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01361.hp1 HG02148.hp2 others(2): Show HG01256.hp1 HG01361.hp1 HG02148.hp2 HG02300.hp1 NA18978.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0001 a0004c0004t0001 a0002c0002t0001 a0004c0004t0001	a0002c0002t0001g0230 a0004c0004t0001g0163 a0004c0004t0001g0164 others(2): Show a0002c0002t0001g0230 a0004c0004t0001g0163 a0004c0004t0001g0164 a0004c0004t0001g0165 a0004c0004t0001g0167	5	384	0.0130	33	c.762 others(52): Show c.762+35591_762+35592insTATATATATATATATATATATATATA TATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEEP1_chrX_119533149_119570409	119536967	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	293	0.0034	33	c.27 others(44): Show c.2759_*2760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	STEEP1	ENSG00000018610.15	transcript	ENST00000644802.2	protein_coding		1181		chrX	TogoVar
STEEP1_chrX_119533149_119570409	119542055	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0037 a0001c0002t0006g0037	1	293	0.0034	33	c.513 others(48): Show c.513+449_513+450insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	STEEP1	ENSG00000018610.15	transcript	ENST00000644802.2	protein_coding	5/6			chrX	TogoVar
STK24_chr13_98440185_98582107	98494412	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	322	0.0031	33	c.274 others(52): Show c.274-12092_274-12091insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	2/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98536855	T T	TGCCACAC others(26): Show TGCCACACTCCTCCGCCTGTCCTCCAGCCGCCCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp2 HG02895.hp1 others(3): Show HG02145.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG03130.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0012 a0001c0001t0021 a0001c0001t0011 a0001c0001t0012 a0001c0001t0021	a0001c0001t0011g0146 a0001c0001t0012g0102 a0001c0001t0012g0147 others(3): Show a0001c0001t0011g0146 a0001c0001t0012g0102 a0001c0001t0012g0147 a0001c0001t0012g0187 a0001c0001t0021g0144 a0001c0001t0021g0145	6	322	0.0186	33	c.43- others(50): Show c.43-17415_43-17383dupTGGGCGGCTGGAGGACAGGCGGAGGAGT GTGGC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	1/10			chr13	TogoVar
STK25_chr2_241487670_241513584	241497864	C C	CGACTCCC others(26): Show CGACTCCCACCCTCTCCTGACTCTGAGGGCCTGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01099.hp2 others(58): Show HG00099.hp1 HG00140.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01261.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18963.hp1 NA18964.hp2 NA18992.hp1 NA18993.hp2 NA18998.hp2 NA19002.hp2 NA19043.hp1 NA19054.hp2 NA19072.hp2 NA19074.hp2 NA19078.hp2 NA19087.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0014 a0001c0001 a0001c0004 a0001c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0038 a0001c0001t0045 a0001c0001t0046 a0001c0004t0001 a0001c0014t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0032 others(48): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0071 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0252 a0001c0001t0001g0264 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0003g0014 a0001c0001t0003g0049 a0001c0001t0003g0077 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0194 a0001c0001t0003g0233 a0001c0001t0003g0237 a0001c0001t0003g0259 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0009g0069 a0001c0001t0009g0080 a0001c0001t0009g0082 a0001c0001t0009g0266 a0001c0001t0009g0267 a0001c0001t0009g0268 a0001c0001t0009g0276 a0001c0001t0009g0288 a0001c0001t0018g0037 a0001c0001t0021g0111 a0001c0001t0025g0164 a0001c0001t0026g0122 a0001c0001t0030g0109 a0001c0001t0038g0063 a0001c0001t0045g0298 a0001c0001t0046g0296 a0001c0004t0001g0130 a0001c0004t0001g0179 a0001c0004t0001g0269 a0001c0014t0001g0143	61	446	0.1368	33	c.103 others(50): Show c.1033-210_1033-178dupACAGGCCCTCAGAGTCAGGAGAGGGTGG GAGTC	STK25	ENSG00000115694.15	transcript	ENST00000316586.9	protein_coding	9/11			chr2	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02818.hp2 HG02683.hp2 HG02818.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0027 a0003c0003t0001g0118 a0003c0003t0001g0027 a0003c0003t0001g0118	2	404	0.0050	33	c.483 others(50): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	404	0.0025	33	c.483 others(50): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar

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