Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ROCK2_chr2_11174759_11349636	11286234	T T	TTAAGCAG others(300): Show TTAAGCAGATGTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp1 NA20300.hp1 HG01358.hp2 HG01496.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0037 a0002c0002t0002 a0002c0002t0003 a0002c0002t0037	a0002c0002t0002g0033 a0002c0002t0003g0051 a0002c0002t0037g0030 a0002c0002t0002g0033 a0002c0002t0003g0051 a0002c0002t0037g0030	3	320	0.0094	307	c.324 others(322): Show c.324+304_324+305insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAACATCTGCTTA	ROCK2	ENSG00000134318.16	transcript	ENST00000315872.11	protein_coding	3/32			chr2	TogoVar
RORA_chr15_60483284_61234302	60542445	A A	ACATGCAC others(300): Show ACATGCACACCTCACACACACGGCACACATGCACACCTCACACACGGCAC ACATGCACACCAACACATACACACGGCACACATGCACACCAACACACACG GCACACATGCACACCTCACACACACATGGCACACATGCACACCTCACACA CACGGCACACAGGCACACCTCACACACGGCACACAGGCACACCTCACACA CAGATGGCACACATGCACACCTCACACACGGCACACAGGCACACCTCACA CACACATGGCACACATGCACACCTCACACACAGCCGGCACACATGCACAC CTCACACG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG02965.hp1 others(2): Show HG02572.hp1 HG02723.hp2 HG02965.hp1 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0004 a0001c0006t0004 a0001c0005t0004 a0001c0006t0004	a0001c0005t0004g0024 a0001c0005t0004g0082 a0001c0005t0004g0107 others(2): Show a0001c0005t0004g0024 a0001c0005t0004g0082 a0001c0005t0004g0107 a0001c0006t0004g0001 a0001c0006t0004g0078	5	118	0.0424	307	c.197 others(326): Show c.197-10595_197-10594insCGTGTGAGGTGTGCATGTGTGCCGGC TGTGTGTGAGGTGTGCATGTGTGCCATGTGTGTGTGAGGTGTGCCTGTGT GCCGTGTGTGAGGTGTGCATGTGTGCCATCTGTGTGTGAGGTGTGCCTGT GTGCCGTGTGTGAGGTGTGCCTGTGTGCCGTGTGTGTGAGGTGTGCATGT GTGCCATGTGTGTGTGAGGTGTGCATGTGTGCCGTGTGTGTTGGTGTGCA TGTGTGCCGTGTGTATGTGTTGGTGTGCATGTGTGCCGTGTGTGAGGTGT GCATGTGTGCCGTGTGTGTGAGGTGTGCATG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	2/10			chr15	TogoVar
RPA3_chr7_7631518_7723607	7679342	T T	TACATGTT others(300): Show TACATGTTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAA TTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATAT TTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	308	0.0033	307	c.-75 others(326): Show c.-758+6487_-758+6488insTATCTATAAATTAAATATATAAATAT ATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAA ATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTA TCTATAAATTAAATATATAAATATATATTTATCTATAAACTAAATATATA AATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAACATGT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPSA2_chr19_23758004_23833868	23768605	T T	TGAGAAAG others(300): Show TGAGAAAGAGTCTCAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCA TCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0327 a0001c0001t0107g0327	1	366	0.0027	307	c.-30 others(326): Show c.-303+5484_-303+5485insAGGCCAGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATTGAGACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAGAGAAAGAGTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
RPSA2_chr19_23758004_23833868	23768605	T T	TGAGAAAG others(300): Show TGAGAAAGAGTCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0346 a0001c0001t0025g0346	1	366	0.0027	307	c.-30 others(326): Show c.-303+5484_-303+5485insAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATTGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAGAGAAAGAGTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
RPSA2_chr19_23758004_23833868	23768605	T T	TGAGAAAG others(300): Show TGAGAAAGAGTCTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCA TCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(94): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01243.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01517.hp1 HG01952.hp2 HG01993.hp2 HG02055.hp2 HG02074.hp2 HG02145.hp2 HG02280.hp1 HG02293.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18906.hp1 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18966.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18993.hp2 NA19000.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19043.hp1 NA19058.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19090.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0012 a0001c0014 others(2): Show a0001c0001 a0001c0012 a0001c0014 a0002c0002 a0011c0017	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(36): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0044 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0057 a0001c0001t0099 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0128 a0001c0001t0129 a0001c0001t0142 a0001c0012t0001 a0001c0014t0001 a0002c0002t0002 a0011c0017t0016	a0001c0001t0001g0005 a0001c0001t0001g0247 a0001c0001t0001g0258 others(93): Show a0001c0001t0001g0005 a0001c0001t0001g0247 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0286 a0001c0001t0001g0288 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0318 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0357 a0001c0001t0006g0279 a0001c0001t0006g0287 a0001c0001t0006g0308 a0001c0001t0006g0311 a0001c0001t0006g0314 a0001c0001t0006g0316 a0001c0001t0006g0317 a0001c0001t0006g0336 a0001c0001t0006g0340 a0001c0001t0014g0259 a0001c0001t0014g0264 a0001c0001t0014g0270 a0001c0001t0014g0335 a0001c0001t0014g0344 a0001c0001t0016g0246 a0001c0001t0016g0285 a0001c0001t0016g0325 a0001c0001t0018g0278 a0001c0001t0018g0284 a0001c0001t0018g0303 a0001c0001t0018g0323 a0001c0001t0020g0262 a0001c0001t0020g0263 a0001c0001t0020g0307 a0001c0001t0023g0349 a0001c0001t0023g0350 a0001c0001t0023g0352 a0001c0001t0038g0261 a0001c0001t0038g0343 a0001c0001t0039g0301 a0001c0001t0039g0341 a0001c0001t0040g0257 a0001c0001t0040g0309 a0001c0001t0041g0243 a0001c0001t0041g0321 a0001c0001t0044g0273 a0001c0001t0044g0283 a0001c0001t0047g0242 a0001c0001t0047g0315 a0001c0001t0049g0312 a0001c0001t0050g0245 a0001c0001t0057g0296 a0001c0001t0099g0334 a0001c0001t0103g0347 a0001c0001t0104g0348 a0001c0001t0105g0313 a0001c0001t0106g0292 a0001c0001t0109g0277 a0001c0001t0110g0265 a0001c0001t0111g0299 a0001c0001t0112g0356 a0001c0001t0113g0329 a0001c0001t0114g0275 a0001c0001t0115g0280 a0001c0001t0116g0304 a0001c0001t0117g0353 a0001c0001t0118g0345 a0001c0001t0119g0269 a0001c0001t0128g0267 a0001c0001t0129g0272 a0001c0001t0142g0291 a0001c0012t0001g0290 a0001c0014t0001g0289 a0002c0002t0002g0297 a0011c0017t0016g0260	97	366	0.2650	307	c.-30 others(326): Show c.-303+5484_-303+5485insAGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATTGAGACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAGAGAAAGAGTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
RPSA2_chr19_23758004_23833868	23768605	T T	TGAGAAAG others(300): Show TGAGAAAGAGTCTCAGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACCA TCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp1 NA20752.hp1 HG00099.hp2 HG01099.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0108 a0001c0001t0001 a0001c0001t0108	a0001c0001t0001g0006 a0001c0001t0108g0319 a0001c0001t0001g0006 a0001c0001t0108g0319	3	366	0.0082	307	c.-30 others(326): Show c.-303+5484_-303+5485insAGGCCGGGCGCGGTGGCTCATGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATTGAGACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAGAGAAAGAGTCTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
RRM2B_chr8_102199502_102243961	102202243	T T	TATCATCT others(300): Show TATCATCTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAACTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	386	0.0026	307	c.58 others(318): Show c.5889_*5890insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC AAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGTTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAGAAAGAGATGAT	RRM2B	ENSG00000048392.13	transcript	ENST00000251810.8	protein_coding		2258		chr8	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(300): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGGCCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp2 HG00741.hp2 others(7): Show HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01361.hp2 HG01433.hp2 HG02148.hp2 HG02523.hp2 HG02559.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0098 a0001c0001t0001g0128 others(7): Show a0001c0001t0001g0027 a0001c0001t0001g0098 a0001c0001t0001g0128 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150	10	210	0.0476	307	c.899 others(322): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GGCCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RYR2_chr1_237037184_237838988	237804311	A A	ACCTCAGT others(300): Show ACCTCAGTGTGCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAATAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00609.hp2 others(16): Show HG00280.hp1 HG00408.hp1 HG00609.hp2 HG01081.hp1 HG01099.hp2 HG01169.hp1 HG01256.hp2 HG01361.hp2 HG01496.hp2 HG02293.hp2 HG02523.hp1 HG03453.hp2 HG03516.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp2 HG04228.hp1 NA19066.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0016 a0001c0023 a0001c0027 a0001c0036 a0001c0048 a0002c0031 a0003c0006 a0003c0013 a0006c0020	a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 others(15): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0003 a0001c0004t0001 a0001c0004t0018 a0001c0004t0020 a0001c0004t0030 a0001c0007t0001 a0001c0007t0019 a0001c0016t0033 a0001c0023t0003 a0001c0027t0002 a0001c0036t0003 a0001c0048t0001 a0002c0031t0025 a0003c0006t0001 a0003c0013t0001 a0006c0020t0001	a0001c0001t0001g0012 a0001c0002t0001g0075 a0001c0003t0003g0046 others(16): Show a0001c0001t0001g0012 a0001c0002t0001g0075 a0001c0003t0003g0046 a0001c0003t0003g0084 a0001c0004t0001g0058 a0001c0004t0018g0047 a0001c0004t0020g0093 a0001c0004t0030g0005 a0001c0007t0001g0020 a0001c0007t0019g0057 a0001c0016t0033g0024 a0001c0023t0003g0071 a0001c0027t0002g0085 a0001c0036t0003g0038 a0001c0048t0001g0007 a0002c0031t0025g0056 a0003c0006t0001g0083 a0003c0013t0001g0091 a0006c0020t0001g0015	19	100	0.1900	307	c.141 others(328): Show c.14152-1810_14152-1809insTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AATAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCTCAGTGTGCTTTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	98/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD12_chr8_118372984_118626963	118479078	T T	TAAAAGTC others(300): Show TAAAAGTCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02886.hp1 HG03195.hp2 others(6): Show HG00639.hp2 HG02886.hp1 HG03195.hp2 HG03471.hp1 HG03927.hp2 HG03942.hp2 NA19056.hp1 NA19081.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0009	a0001c0001t0002g0033 a0001c0001t0002g0101 a0001c0001t0002g0143 others(6): Show a0001c0001t0002g0033 a0001c0001t0002g0101 a0001c0001t0002g0143 a0001c0001t0002g0180 a0001c0001t0002g0185 a0001c0001t0004g0073 a0001c0002t0001g0010 a0001c0002t0001g0121 a0001c0002t0009g0144	9	188	0.0479	307	c.193 others(326): Show c.193-39118_193-39117insTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTTGACTTTT	SAMD12	ENSG00000177570.15	transcript	ENST00000314727.9	protein_coding	2/3			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(300): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCATGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAA ACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAG ACAGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCATGG CTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCC TCCAAGGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	414	0.0024	307	c.678 others(322): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTA GGCTGAAGTGCAGCGGTGAGATCATGGCTCACTGCAGCCTCCAGCTCCTG GGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(300): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAA ACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAG ACAGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCATGG CTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCC TCCAAGGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(176): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp2 NA19080.hp2 NA19088.hp2 NA19091.hp1 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0004c0006 a0005c0008	a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 others(14): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0035 a0002c0002t0001 a0004c0004t0001 a0004c0004t0008 a0004c0004t0016 a0004c0004t0017 a0004c0006t0008 a0004c0006t0012 a0004c0006t0014 a0004c0006t0029 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0008g0179 a0001c0001t0008g0215 a0001c0001t0008g0217 a0001c0001t0016g0158 a0001c0001t0017g0150 a0001c0001t0018g0011 a0001c0001t0019g0035 a0001c0001t0019g0232 a0001c0001t0035g0159 a0002c0002t0001g0037 a0004c0004t0001g0044 a0004c0004t0001g0045 a0004c0004t0001g0046 a0004c0004t0001g0047 a0004c0004t0001g0049 a0004c0004t0001g0284 a0004c0004t0001g0285 a0004c0004t0001g0296 a0004c0004t0001g0297 a0004c0004t0001g0301 a0004c0004t0001g0305 a0004c0004t0001g0306 a0004c0004t0001g0308 a0004c0004t0001g0310 a0004c0004t0001g0316 a0004c0004t0001g0322 a0004c0004t0001g0324 a0004c0004t0001g0325 a0004c0004t0001g0326 a0004c0004t0001g0332 a0004c0004t0008g0048 a0004c0004t0016g0017 a0004c0004t0017g0317 a0004c0006t0008g0106 a0004c0006t0012g0074 a0004c0006t0012g0082 a0004c0006t0012g0086 a0004c0006t0012g0092 a0004c0006t0012g0094 a0004c0006t0014g0018 a0004c0006t0014g0063 a0004c0006t0014g0067 a0004c0006t0014g0071 a0004c0006t0029g0057 a0005c0008t0001g0151 a0005c0008t0001g0164	179	414	0.4324	307	c.678 others(322): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTA GGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTG GGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(300): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAA ACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAG ACAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGG CTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCC TCCAAGGT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02280.hp1 HG02486.hp1 others(1): Show HG01978.hp2 HG02280.hp1 HG02486.hp1 HG02818.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0015 a0002c0002t0034 a0003c0003t0015 a0002c0002t0015 a0002c0002t0034 a0003c0003t0015	a0002c0002t0015g0182 a0002c0002t0015g0216 a0002c0002t0034g0165 others(1): Show a0002c0002t0015g0182 a0002c0002t0015g0216 a0002c0002t0034g0165 a0003c0003t0015g0103	4	414	0.0097	307	c.678 others(322): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTA GGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTG GGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(300): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAAG ACAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGG CTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCC TCCAAGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0015 a0003c0005t0015	a0003c0005t0015g0331 a0003c0005t0015g0331	1	414	0.0024	307	c.678 others(322): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTTAAAAAAAAAAAAAAAAAAA AAAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAA TAAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTA GGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTG GGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(300): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTAG ACAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACAATCATGG CTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCC TCCAAGGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0021 a0002c0002t0021	a0002c0002t0021g0193 a0002c0002t0021g0193	1	414	0.0024	307	c.678 others(322): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAA TAAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTGTCACCTA GGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTG GGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(300): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAAGCCTG TCTCAAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAA ACTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTAG ACAGGGTCTCCCTCTGCCACTTAGGCTGCGGTGCAGTGGCACAATCATGG CTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCACCCCAGCC TCCAAGGT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	414	0.0024	307	c.678 others(322): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGTGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTACAAATAAT AAATAATTTTTTTTTTTTTTTTTTGAGACAGGCTTTCACTCTGTCACCTA GGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCAGCTCCTG GGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCNN1D_chr1_1275436_1297025	1284173	G G	GTGGGGGG others(300): Show GTGGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG GTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTT GGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGT TGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGG GGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTT GGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTG AGGGGGGT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0007 a0003c0004t0003g0007	1	290	0.0035	307	c.464 others(320): Show c.464+83_464+84insTGGGGGGGGTTGGGTGAGGGGGGTGGGGTGGG GGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTG AGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTTGGGGGGGGTTGAGT GAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGG GTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGA GGGGTTGGGGTTGGGTGAGGGGGGT	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17			chr1	TogoVar
SCP2_chr1_52922276_53056698	52923161	T T	TAAAAAAA others(300): Show TAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 NA18906.hp1 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0045 a0001c0002t0006g0046 a0001c0002t0006g0045 a0001c0002t0006g0046	2	280	0.0071	307	c.-42 others(318): Show c.-4236_-4235insAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding		4114		chr1	TogoVar
SCYGR2_chr2_227593893_227604255	227601500	T T	TAGATTTG others(300): Show TAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01123.hp2 HG01168.hp1 others(12): Show HG00099.hp1 HG01123.hp2 HG01168.hp1 HG02004.hp2 HG02293.hp1 HG02698.hp1 HG02738.hp1 HG03017.hp2 HG03669.hp2 HG03704.hp1 NA18956.hp1 NA18963.hp2 NA18969.hp1 NA18988.hp2 NA19068.hp2	a0005 a0011 a0005 a0011	a0005c0005 a0005c0020 a0011c0011 a0005c0005 a0005c0020 a0011c0011	a0005c0005t0000 a0005c0020t0000 a0011c0011t0000 a0005c0005t0000 a0005c0020t0000 a0011c0011t0000	a0005c0005t0000g0000 a0005c0020t0000g0000 a0011c0011t0000g0000 a0005c0005t0000g0000 a0005c0020t0000g0000 a0011c0011t0000g0000	15	469	0.0320	307	c.22 others(318): Show c.2245_*2246insAGATTTGACTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCAGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGCTGGG	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding		2246		chr2	TogoVar
SEMA3D_chr7_84990553_85192056	85113608	T T	TAAAAATA others(300): Show TAAAAATACAAAAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATAGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(87): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01884.hp2 HG01934.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 NA18612.hp1 NA18612.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18967.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19005.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19068.hp1 NA19077.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0008	a0001c0001 a0001c0004 a0001c0006 others(5): Show a0001c0001 a0001c0004 a0001c0006 a0001c0010 a0002c0002 a0002c0003 a0007c0013 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0028 a0001c0001t0046 a0001c0004t0001 a0001c0006t0019 a0001c0006t0029 a0001c0010t0004 a0002c0002t0003 a0002c0002t0021 a0002c0002t0022 a0002c0002t0024 a0002c0002t0047 a0002c0003t0012 a0002c0003t0013 a0002c0003t0020 a0007c0013t0001 a0008c0011t0001	a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 others(87): Show a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0002g0210 a0001c0001t0002g0224 a0001c0001t0004g0155 a0001c0001t0004g0176 a0001c0001t0005g0006 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0045 a0001c0001t0005g0047 a0001c0001t0005g0052 a0001c0001t0005g0054 a0001c0001t0005g0071 a0001c0001t0008g0251 a0001c0001t0008g0255 a0001c0001t0008g0257 a0001c0001t0008g0259 a0001c0001t0008g0260 a0001c0001t0009g0079 a0001c0001t0009g0149 a0001c0001t0011g0106 a0001c0001t0014g0039 a0001c0001t0014g0049 a0001c0001t0028g0090 a0001c0001t0046g0249 a0001c0004t0001g0048 a0001c0006t0019g0186 a0001c0006t0019g0187 a0001c0006t0029g0138 a0001c0010t0004g0185 a0002c0002t0003g0001 a0002c0002t0003g0002 a0002c0002t0003g0003 a0002c0002t0003g0041 a0002c0002t0003g0043 a0002c0002t0003g0046 a0002c0002t0003g0051 a0002c0002t0003g0075 a0002c0002t0003g0082 a0002c0002t0003g0084 a0002c0002t0003g0086 a0002c0002t0003g0089 a0002c0002t0003g0098 a0002c0002t0021g0042 a0002c0002t0022g0044 a0002c0002t0024g0040 a0002c0002t0047g0265 a0002c0003t0012g0253 a0002c0003t0012g0261 a0002c0003t0012g0262 a0002c0003t0012g0264 a0002c0003t0013g0061 a0002c0003t0013g0091 a0002c0003t0020g0252 a0002c0003t0020g0254 a0007c0013t0001g0093 a0008c0011t0001g0094	90	266	0.3384	307	c.151 others(324): Show c.151+8132_151+8133insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCAATTTTTGTATTTTT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	3/18			chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85113608	T T	TAAAAATA others(300): Show TAAAAATACAAAAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	266	0.0038	307	c.151 others(324): Show c.151+8132_151+8133insTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCAATTTTTGTATTTTT	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	3/18			chr7	TogoVar
SGCZ_chr8_14079845_15243431	14463923	T T	TGATTGAC others(300): Show TGATTGACTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCC CAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCC TGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02809.hp2 HG03486.hp2 others(1): Show HG02451.hp1 HG02809.hp2 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0027 a0001c0001t0045 others(1): Show a0001c0001t0019 a0001c0001t0027 a0001c0001t0045 a0001c0001t0048	a0001c0001t0019g0028 a0001c0001t0027g0010 a0001c0001t0045g0008 others(1): Show a0001c0001t0019g0028 a0001c0001t0027g0010 a0001c0001t0045g0008 a0001c0001t0048g0051	4	102	0.0392	307	c.234 others(326): Show c.234+90808_234+90809insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGT GAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAGTCAATC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	2/7			chr8	TogoVar
SIGIRR_chr11_400716_419999	401147	A A	ACCCGCCC others(300): Show ACCCGCCCCGCTCACCCCCCGGCCCCCGCTCACCCCCCCGGCCCCCGCTC ACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCC CGCCCCGCTCACACCCGCCCCGCTCACACCCCCGGCCCCGCTCACCCCCC GGCCCCCGCTCACCACCCGCCCCGCTCACACCCCGCCCCGCTCACCCCCG CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCACCCGCCCC CGCTCACACCCCGGCCCCGCTCACACCCCGCCCCGCTCACCCCCGGCCCC GCTCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	242	0.0041	307	c.47 others(318): Show c.4748_*4749insGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGGT GTGAGCGGGGCCGGGGTGTGAGCGGGGGCGGGTGGTGAGCGGGGCCGGGG GTGAGCGGGGCGGGTGTGAGCGGGCGGGGGTGAGCGGGGCGGGGTGTGAG CGGGGCGGGTGGTGAGCGGGGGCCGGGGGGTGAGCGGGGCCGGGGGTGTG AGCGGGGCGGGTGTGAGCGGGGCGGGGGTGAGCGGGGCGGGTGTGAGCGG GGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGGCCGGGGGGGTGAGCGGG GGCCGGGGGGTGAGCGGGGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4568		chr11	TogoVar
SIGIRR_chr11_400716_419999	401552	G G	GCCCGCTC others(300): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTC ACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACAC CCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGG CCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTC ACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	242	0.0041	307	c.43 others(318): Show c.4343_*4344insGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCC GGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGGGTG TGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGTGAG CGGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGG GCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGG GTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGG TGAGCGGGGCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4163		chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64596247	A A	AATGGATG others(300): Show AATGGATGGATGGATGGAATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGGATGG TTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAATGGA ATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGAATAG ATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGATGGA TGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGATGGA TGGATGGG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0131 a0001c0003t0003g0131	1	390	0.0026	307	c.831 others(324): Show c.831-2252_831-2251insATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGAATAGATGGAATGGATAGATGGATGGATGG ATGGTTTGATGGTTGAATGGATGGATGGATGGATGGAATGGATGGATGAA TGGAATTGATGGATGGATGGGATGGATGGATGGATTGATGGATAGTTGGA ATAGATGGAATGGATGGATGGATGGATGGTCGAATGGATAGTTGAATGGA TGGATGCATGGATGGATGGATGGATGGAATGGATGGATGGATGGAATGGA TGGATGGATGGGATGGATGGATGGATGGA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC30A9_chr4_41985530_42095461	42086023	T T	TAAAAAGA others(300): Show TAAAAAGAAACAAGATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0134 a0001c0004t0026g0134	1	164	0.0061	307	c.166 others(322): Show c.1663-43_1663-42insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAGAAACAAGATT	SLC30A9	ENSG00000014824.14	transcript	ENST00000264451.12	protein_coding	17/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(300): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGGGATT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19030.hp1 HG02055.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0037 a0001c0001t0014 a0001c0001t0037	a0001c0001t0014g0029 a0001c0001t0037g0053 a0001c0001t0014g0029 a0001c0001t0037g0053	2	182	0.0110	307	c.100 others(326): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCA GTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTA CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCT CCCAAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLCO3A1_chr15_91848708_92170903	92029813	T T	TCATACAT others(300): Show TCATACATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTC CCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0178 a0002c0005t0009g0178	1	190	0.0053	307	c.647 others(326): Show c.647-65057_647-65056insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCCATACATTTTT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLIT1_chr10_96993038_97190959	97026035	C C	CAAAAAGA others(300): Show CAAAAAGAAAAGAACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03041.hp2 HG02895.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0026 a0001c0005t0009 a0001c0003t0026 a0001c0005t0009	a0001c0003t0026g0170 a0001c0005t0009g0091 a0001c0003t0026g0170 a0001c0005t0009g0091	2	256	0.0078	307	c.258 others(326): Show c.2583-4623_2583-4622insTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGGTTCTTTTCTTTTT	SLIT1	ENSG00000187122.17	transcript	ENST00000266058.9	protein_coding	25/36			chr10	TogoVar
SMIM36_chr17_55444856_55516452	55500977	A A	ACATTATA others(300): Show ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATAATATACATTATATTTTATGATATA TAATATACATTATATTTTATGATATATAATATACATTATATTTTATGATA TATAATATACATTATATTTTATGATATATAATATACATTATATTTTATGA TATATAATATACATTATATTTTATGATATATAATATACATTATATTTTAT GATATATT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0239 a0001c0001t0004g0239	1	340	0.0029	307	c.17 others(326): Show c.174+9901_*174+9902insAATATATCATAAAATATAATGTATAT TATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGTAT ATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAATGT ATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATAAT GTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATA ATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55500977	A A	ATTTTATA others(300): Show ATTTTATATTATAATATATAATATACATTATATTTTATGATATATAATAT ACATTATATTTTATGATATATAATATACATTATATTTTATGATATATAAT ATACATTATATTTTATGATATATAATATACATTATATTTTATGATATATA ATATACATTATATTTTATGATATATAATATACATTATATTTTATGATATA TAATATATATTATATTTTATGATATATAATATATATTATATTTTATGATA TATAATATATATTATATTTTATGATATATAATATATATTATATTTTATGA TATATAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0336 a0002c0002t0002g0336	1	340	0.0029	307	c.17 others(326): Show c.174+9901_*174+9902insATTATATATCATAAAATATAATATAT ATTATATATCATAAAATATAATATATATTATATATCATAAAATATAATAT ATATTATATATCATAAAATATAATATATATTATATATCATAAAATATAAT GTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATATA ATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAATA TAATGTATATTATATATCATAAAATATAATGTATATTATATATCATAAAA TATAATGTATATTATATATTATAATATAAAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SNTG2_chr2_945849_1372613	1199166	T T	TAAAAAGG others(300): Show TAAAAAGGTAACACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAAGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GTGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp2 NA19084.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0039 a0002c0005t0001g0167 a0001c0001t0001g0039 a0002c0005t0001g0167	2	190	0.0105	307	c.592 others(324): Show c.592-9924_592-9923insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCACCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAAGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGTGCCACTGCACTCCAGGCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAGGTAACAC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(300): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGACTGC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19002.hp1 HG02630.hp1 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0097 a0001c0003t0005g0098 a0001c0003t0005g0097 a0001c0003t0005g0098	2	380	0.0053	307	c.-13 others(324): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTC CCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(300): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATTATATA ACATGATG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0026 a0001c0006t0026	a0001c0006t0026g0137 a0001c0006t0026g0137	1	356	0.0028	307	c.-11 others(328): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATTATATAACATGATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(300): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGGCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCAC GCAGTTGT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA18977.hp1 HG02300.hp2 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0005 a0001c0001t0001 a0001c0012t0005	a0001c0001t0001g0353 a0001c0012t0005g0272 a0001c0001t0001g0353 a0001c0012t0005g0272	2	356	0.0056	307	c.245 others(324): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGG CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTT GCCAAGGCTGGCACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(300): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0122 a0003c0003t0002g0122	1	260	0.0039	307	c.138 others(326): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(300): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0080 a0003c0003t0001g0080	1	260	0.0039	307	c.138 others(326): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(300): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0129 a0006c0007t0001g0129	1	260	0.0039	307	c.138 others(326): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SREK1IP1_chr5_64713148_64773691	64727314	C C	CCACTTAC others(300): Show CCACTTACTACTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0040 a0003c0005t0040	a0003c0005t0040g0198 a0003c0005t0040g0198	1	342	0.0029	307	c.278 others(322): Show c.278+792_278+793insCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGAAAGTAGTAAGTG	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4			chr5	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(300): Show GCCACACACATATTCTTTGTTTTTTGTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	396	0.0025	307	c.485 others(322): Show c.485+522_485+523insATTCTTTGTTTTTTGTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SS18L1_chr20_62138769_62187514	62166667	A A	ATAATCCC others(300): Show ATAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGCCAG GAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTACCAAAA AATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCCAGTTAC TCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGTTGCAGT GAGCCGAGATCGTGCCACTGCATTCCAGCCTTGCGACAGGATAAGACCCT GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCATTAGTT CACACCTG	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA19240.hp1 HG01255.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0010 a0001c0002t0004 a0001c0002t0010	a0001c0002t0004g0282 a0001c0002t0010g0283 a0001c0002t0004g0282 a0001c0002t0010g0283	2	316	0.0063	307	c.916 others(324): Show c.916+1168_916+1169insGGGAGGCCAAGGCAGGCGGATCACTTGA GGCCAGGAATTTGAGACCAGCCTGACCAACGTGGCGAAACCCCATCTCTA CCAAAAAATACAAATATTAGCTGGCCATGGTGGTGCACGCCTGTAGTCCC AGTTACTCAGGCGGAGGCGGGAGAATCGCTTAAACCTGGGAAGTGGAGGT TGCAGTGAGCCGAGATCGTGCCACTGCATTCCAGCCTTGCGACAGGATAA GACCCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCTCGGTGCA TTAGTTCACACCTGTAATCCCAGCACTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
ST3GAL3_chr1_43702536_43936159	43743239	C C	CAAAACAG others(300): Show CAAAACAGAGCCCCCCTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCGCGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATGCAAAAAATTAGCCG GGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCG CCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02080.hp2 NA19005.hp2 others(2): Show HG01496.hp2 HG02080.hp2 NA19005.hp2 NA19012.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0031 a0001c0001t0002g0053 a0001c0001t0004g0030 others(2): Show a0001c0001t0002g0031 a0001c0001t0002g0053 a0001c0001t0004g0030 a0001c0001t0004g0035 a0001c0001t0004g0047	5	274	0.0183	307	c.118 others(324): Show c.118+6873_118+6874insCTCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCGCGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATGCAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAACAGAGCCCCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(300): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCACCCTGGCCCCGCCCCC GCCCAGTGCCCCGCCCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCC CCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCGGCCCAGTGCCCCGC CCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGT GCCCCGCCCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCCCCTGCCC GCTCCGAGCTCCGCCCCGGCCTCGCCCCGGCCCCTGCCCGCTCCGAGCTT CGCCCCGG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0156 a0001c0001t0009g0156	1	388	0.0026	307	c.483 others(320): Show c.483+92_483+93insCCGGGGCGAAGCTCGGAGCGGGCAGGGGCCGG GGCGAGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAG GGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGCACTGGGCCGGGGCGGGG CCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAGGGCAAGC AGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGTGGAGCTC GGAGCGGGCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
STMP1_chr7_135657514_135681416	135670703	T T	TAAAATAA others(300): Show TAAAATAATCATGGCCGGGCGCGGTGGCTCACGCTTGTAATCCCAGCACT CTGGGAGGCCGAGGCGGGTGGATCACAAGGTCGGGAGATCGAGACCACGG TGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGT GGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTC CAGCCTGGGGGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0033 a0001c0001t0032g0033	1	392	0.0026	307	c.16- others(322): Show c.16-2038_16-2037insGCCGGGCGCGGTGGCTCACGCTTGTAATCC CAGCACTCTGGGAGGCCGAGGCGGGTGGATCACAAGGTCGGGAGATCGAG ACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG TGGTGGTGGGCGCCTGTAGTCCCGGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCAC TGCACTCCAGCCTGGGGGACAGAGCAAGACTCCGTCTCAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAATAATCATG	STMP1	ENSG00000243317.8	transcript	ENST00000507606.3	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
STRN3_chr14_30888804_31031379	30975090	T T	TAAGAAAA others(300): Show TAAGAAAAAGACACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(148): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp2 NA18946.hp1 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0004 a0002c0002 others(4): Show a0001c0001 a0001c0004 a0002c0002 a0002c0005 a0002c0014 a0002c0018 a0008c0017	a0001c0001t0003 a0001c0001t0030 a0001c0001t0031 others(21): Show a0001c0001t0003 a0001c0001t0030 a0001c0001t0031 a0001c0004t0002 a0001c0004t0006 a0001c0004t0007 a0001c0004t0028 a0001c0004t0046 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0012 a0002c0002t0013 a0002c0002t0029 a0002c0005t0001 a0002c0005t0004 a0002c0005t0007 a0002c0014t0001 a0002c0018t0001 a0008c0017t0001	a0001c0001t0003g0092 a0001c0001t0030g0305 a0001c0001t0031g0306 others(147): Show a0001c0001t0003g0092 a0001c0001t0030g0305 a0001c0001t0031g0306 a0001c0004t0002g0077 a0001c0004t0006g0066 a0001c0004t0006g0067 a0001c0004t0006g0068 a0001c0004t0006g0069 a0001c0004t0006g0070 a0001c0004t0006g0071 a0001c0004t0006g0072 a0001c0004t0006g0073 a0001c0004t0006g0075 a0001c0004t0006g0078 a0001c0004t0006g0079 a0001c0004t0006g0081 a0001c0004t0006g0082 a0001c0004t0006g0085 a0001c0004t0006g0086 a0001c0004t0006g0087 a0001c0004t0006g0089 a0001c0004t0006g0090 a0001c0004t0007g0065 a0001c0004t0007g0074 a0001c0004t0007g0080 a0001c0004t0007g0083 a0001c0004t0007g0084 a0001c0004t0028g0076 a0001c0004t0046g0088 a0002c0002t0001g0001 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0104 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0170 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0177 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0307 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0002g0121 a0002c0002t0003g0148 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0004g0063 a0002c0002t0004g0093 a0002c0002t0004g0098 a0002c0002t0004g0103 a0002c0002t0004g0106 a0002c0002t0004g0114 a0002c0002t0004g0128 a0002c0002t0004g0131 a0002c0002t0004g0132 a0002c0002t0004g0139 a0002c0002t0004g0145 a0002c0002t0004g0147 a0002c0002t0004g0149 a0002c0002t0004g0150 a0002c0002t0004g0162 a0002c0002t0004g0169 a0002c0002t0004g0178 a0002c0002t0004g0187 a0002c0002t0004g0190 a0002c0002t0004g0191 a0002c0002t0005g0166 a0002c0002t0007g0122 a0002c0002t0007g0133 a0002c0002t0007g0193 a0002c0002t0011g0172 a0002c0002t0012g0115 a0002c0002t0012g0118 a0002c0002t0012g0119 a0002c0002t0012g0120 a0002c0002t0013g0105 a0002c0002t0013g0134 a0002c0002t0013g0151 a0002c0002t0013g0183 a0002c0002t0029g0127 a0002c0005t0001g0210 a0002c0005t0001g0294 a0002c0005t0001g0295 a0002c0005t0001g0297 a0002c0005t0001g0299 a0002c0005t0001g0300 a0002c0005t0004g0292 a0002c0005t0004g0296 a0002c0005t0004g0298 a0002c0005t0007g0293 a0002c0014t0001g0062 a0002c0018t0001g0141 a0008c0017t0001g0091	151	364	0.4148	307	c.283 others(326): Show c.283-18849_283-18848insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCGTGTCTTTTTCTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30975090	T T	TAAGAAAA others(300): Show TAAGAAAAAGACACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19070.hp2 HG00438.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0171 a0002c0002t0001g0154 a0002c0002t0001g0171	2	364	0.0055	307	c.283 others(326): Show c.283-18849_283-18848insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCCGTGTCTTTTTCTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30975090	T T	TAAGAAAA others(300): Show TAAGAAAAAGACACGGGCCGGGTGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0156 a0002c0002t0001g0156	1	364	0.0028	307	c.283 others(326): Show c.283-18849_283-18848insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCACCCGGCCCGTGTCTTTTTCTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
STRN3_chr14_30888804_31031379	30975090	T T	TAAGAAAA others(300): Show TAAGAAAAAGACACGGGTCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0211 a0001c0004t0007g0211	1	364	0.0028	307	c.283 others(326): Show c.283-18849_283-18848insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGACCCGTGTCTTTTTCTT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
SUFU_chr10_102498972_102638535	102637473	T T	TATTATAT others(300): Show TATTATATATTATATAACTATATATTATATATAATATATATATTATATAT AATATAACTATATATTATATATAATATATATATTATATATTATATAACTA TATATTATATATAATATATATATTATATATTATATAACTATATATTATAT ATAATATATATATTATATATTATATAACTATATATTATATATAATATATA TATTATATAACTATATATTATATATAATATATATATTATATATAACTATA TATTATATATAATATATATATTATATATAATATAACTATATATTATATAT AATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	268	0.0037	307	c.73 others(318): Show c.7318_*7319insATTATATATTATATAACTATATATTATATATAAT ATATATATTATATATAATATAACTATATATTATATATAATATATATATTA TATATTATATAACTATATATTATATATAATATATATATTATATATTATAT AACTATATATTATATATAATATATATATTATATATTATATAACTATATAT TATATATAATATATATATTATATAACTATATATTATATATAATATATATA TTATATATAACTATATATTATATATAATATATATATTATATATAATATAA CTATATATTATATATAATATATA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3939		chr10	TogoVar

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Search Results (Total: 10000 hits)