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
MSH4_chr1_75791882_75918242	75885668	T T	TATAATAT others(399): Show TATAATATATATTATATATTATATATTATAATATATTATATATTATAATA TATATTATATATTATATATTATAATATATATACCTGATATATTTAAGGTA TTATATATAATACCTTATATATTATATATATAATACCTTATAAGGTATTA TATATAATATTATATATTATATATAATATATATATTATATATAATATATA AATGTATATATTATATATTATACATATATATTATATACATATATTATATA TAATATATATTTTATATATTATATATGTATATATGTAATATATATAACCT TCACATTTATTTCAGTTATATAATGTGAAGGTAATATATATATGTTATTT TGTGTATATATAAAGTATTATATATAATGTATTATATATTATATAGTATA TATAGTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01069.hp1 others(49): Show HG00438.hp1 HG00558.hp2 HG01069.hp1 HG01070.hp2 HG01256.hp2 HG01257.hp2 HG01358.hp2 HG01361.hp1 HG01952.hp2 HG01978.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02148.hp2 HG02273.hp2 HG02738.hp1 HG03669.hp2 NA18939.hp2 NA18946.hp2 NA18948.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18968.hp2 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18993.hp1 NA18994.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19070.hp1 NA19074.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006	a0001c0002t0001g0240 a0001c0002t0001g0268 a0001c0002t0001g0269 others(49): Show a0001c0002t0001g0240 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0284 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0317 a0001c0002t0001g0318 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0327 a0001c0002t0005g0283 a0001c0002t0006g0293	52	332	0.1566	406	c.210 others(425): Show c.2107+1847_2107+1848insATAATATATATTATATATTATATATT ATAATATATTATATATTATAATATATATTATATATTATATATTATAATAT ATATACCTGATATATTTAAGGTATTATATATAATACCTTATATATTATAT ATATAATACCTTATAAGGTATTATATATAATATTATATATTATATATAAT ATATATATTATATATAATATATAAATGTATATATTATATATTATACATAT ATATTATATACATATATTATATATAATATATATTTTATATATTATATATG TATATATGTAATATATATAACCTTCACATTTATTTCAGTTATATAATGTG AAGGTAATATATATATGTTATTTTGTGTATATATAAAGTATTATATATAA TGTATTATATATTATATAGTATATATAGTA	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19			chr1	TogoVar
MSLN_chr16_755734_773862	767566	T T	TGCGTGGA others(399): Show TGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGA GGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGG AGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGTGT GGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGC GCGTGGAGGAGGAGGGGCGCATGGGGGCGCGTGGAGGGGGGCGCGTGGAG GAGGAGGGGCGCATGGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGG AGGGGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGTGTGTG GGGGGGG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0009 a0005c0005t0001g0009	2	388	0.0052	406	c.159 others(423): Show c.1596+120_1596+121insGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGG GGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGGGGGTGCGTGGAGG AGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGTGTGGG GGGGGCACGTGGAGGGGGGCGTGTGGGGGGGTGCGTGGAGGAGGGGCGCG TGGAGGAGGAGGGGCGCATGGGGGCGCGTGGAGGGGGGCGCGTGGAGGAG GAGGGGCGCATGGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGG GGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGTGTGTGGGG GGGGGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(399): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATTTAGCTATATTTATA TCAGATAAAATGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGG CCATTATATAACGATAAAGCAGTCAATTCTTCAAGAACATATAACTACTG TAAATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAATTA TATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTATATATATATATAT ATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATAAATATA AATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGG TTATATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp2 HG01258.hp2 others(3): Show HG00738.hp1 HG01256.hp2 HG01258.hp2 HG01516.hp1 HG02300.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0161 a0001c0001t0002g0172 a0001c0001t0002g0173 others(3): Show a0001c0001t0002g0161 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0233 a0002c0003t0002g0157 a0002c0003t0002g0167	6	312	0.0192	406	c.293 others(425): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATTTAGCTATATTTATATCAGATAAAA TGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATA ACGATAAAGCAGTCAATTCTTCAAGAACATATAACTACTGTAAATATATA TATTATATATATATAAAACCAAAACCAGAAGACCTAATTATATATATATA TTTAGGTCCTCTGGTTTTGGTTTTTTATATATATATATATATATTTAGGT CTTCTGGTTTTGGTTTTATATATATATTTATATAAATATAAATATATAAA TATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTAT ATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MSRB3_chr12_65273683_65471907	65425002	C C	CTATATAT others(399): Show CTATATATATATATTTAGGTCCTCTGGTTTTGGTCATATATATAAATATA TATAAATATATATAAATATATATATAAATATATATTTAGCTATATTTATA TCAGATAAAATGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGG CCATTATATAAGGATAAAGCAGTCAATTCTTCAAGAACATATAACTACTG TAAATATATATATTATATATATATAAAACCAAAACCAGAAGACCTAATTA TATATATATATTTAGGTCCTCTGGTTTTGGTTTTTTATATATATATATAT ATATTTAGGTCTTCTGGTTTTGGTTTTATATATATATTTATATAAATATA AATATATAAATATATATAATTATATATATATTTAGGTCCTCTGGTTTTGG TTATATG	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	312	0.0032	406	c.293 others(425): Show c.293-28693_293-28692insCATATATATAAATATATATAAATATA TATAAATATATATATAAATATATATTTAGCTATATTTATATCAGATAAAA TGGATTAAAAGTCAAAAACTGTAAAATGAGACAAAGAAGGCCATTATATA AGGATAAAGCAGTCAATTCTTCAAGAACATATAACTACTGTAAATATATA TATTATATATATATAAAACCAAAACCAGAAGACCTAATTATATATATATA TTTAGGTCCTCTGGTTTTGGTTTTTTATATATATATATATATATTTAGGT CTTCTGGTTTTGGTTTTATATATATATTTATATAAATATAAATATATAAA TATATATAATTATATATATATTTAGGTCCTCTGGTTTTGGTTATATGTAT ATATATATATTTAGGTCCTCTGGTTTTGGT	MSRB3	ENSG00000174099.12	transcript	ENST00000308259.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
MTTP_chr4_99569824_99628997	99588955	A A	ACATATAT others(399): Show ACATATATATGTTCATATATATACACACATATATATGTTCATATATATAC ACACATATATATGTTCATATATATACTCATATATATATGTTCATATATAT ACTCATATATATGTTCATATATATACTCATATATATGTTCATATATATAC TCATATATATGTTCATATATATACTCATATATATGTTCATATATATACTC ATATATATGTTCATATATATACTCATATATATGTTCATATATATTCATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATGTTCATATATATATTCATATAT ATATGTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0106 a0005c0005t0001g0106	1	364	0.0028	406	c.394 others(421): Show c.394-653_394-652insGTTCATATATATACACACATATATATGTTC ATATATATACTCATATATATATGTTCATATATATACTCATATATATGTTC ATATATATACTCATATATATGTTCATATATATACTCATATATATGTTCAT ATATATACTCATATATATGTTCATATATATACTCATATATATGTTCATAT ATATACTCATATATATGTTCATATATATTCATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATGTTCATATATATATTCATATATATATGTTCATATATAT GTTCATATATATACACACATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(399): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTTATATATTATAAATTTATAATAT ATATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATA AGTTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAAT TATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTT ATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATA TAACTTATAAGTTATAATATATAACTTATAATTATAAGTTATAATATATA ACTTATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAA TTATAAG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01515.hp1 others(7): Show HG01070.hp1 HG01071.hp2 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG02559.hp2 HG02622.hp2 NA19002.hp2 NA19056.hp1 NA19080.hp2	a0001 a0006 a0011 others(1): Show a0001 a0006 a0011 a0031	a0001c0001 a0006c0008 a0011c0009 others(1): Show a0001c0001 a0006c0008 a0011c0009 a0031c0039	a0001c0001t0001 a0001c0001t0005 a0006c0008t0003 others(3): Show a0001c0001t0001 a0001c0001t0005 a0006c0008t0003 a0011c0009t0002 a0011c0009t0007 a0031c0039t0005	a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0245 others(7): Show a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0005g0051 a0001c0001t0005g0052 a0006c0008t0003g0159 a0006c0008t0003g0160 a0011c0009t0002g0161 a0011c0009t0007g0162 a0031c0039t0005g0013	10	284	0.0352	406	c.710 others(423): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAATT ATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGTTA TATATTATAACTTATAAGTTATATATTATAACTTATAAGTTATATATTAT AACTTATAAGTTATATATTATAACTTATAATTATAAATTATATATTATAA CTTATAATTAAAAATTATAATATATAACTTATAATTATAAATTATATATT ATAAATTATAATATATAAATTATATATATATATTATAAATTTATAATATA TAAATTATATATTATAATTTATAATTTATAATTATAAATTATATATTATA AATTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
MXRA5_chrX_3303565_3351652	3326168	T T	TTTATAAT others(399): Show TTTATAATATATAATTTATAATTATAATTTATAATATATAATTTATAATT ATAAATTATAAATTATAATATATAATTTATATATTATAAATTTATAATAT ATATATATAATTTATATATTATAATTTATAATATATAATTTATAATTATA AGTTATATATTATAATTTTTAATTATAAGTTATAATATATAATTTATAAT TATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAAGTT ATAATATATAACTTATAAGTTATAATATATAACTTATAAGTTATAATATA TAACTTATAATTATAAGTTATAATATATAACTTATAAGTTATAATATATA ACTTATAAGTTATAATATATAACTTATAAGTTATAATATATAACTTATAA TTATAAG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	284	0.0035	406	c.710 others(423): Show c.710-1194_710-1193insCTTATAATTATAAGTTATATATTATAAC TTATAAGTTATATATTATAACTTATAAGTTATATATTATAACTTATAAGT TATATATTATAACTTATAATTATAAGTTATATATTATAACTTATAAGTTA TATATTATAACTTATAAGTTATATATTATAACTTATAAGTTATATATTAT AACTTATAAGTTATATATTATAACTTATAATTATAAATTATATATTATAA CTTATAATTAAAAATTATAATATATAACTTATAATTATAAATTATATATT ATAAATTATAATATATAAATTATATATATATATTATAAATTTATAATATA TAAATTATATATTATAATTTATAATTTATAATTATAAATTATATATTATA AATTATAATTATAAATTATATATTATAA	MXRA5	ENSG00000101825.8	transcript	ENST00000217939.7	protein_coding	4/6			chrX	TogoVar
NCAPG2_chr7_158626169_158709804	158668243	T T	TCCTTACC others(399): Show TCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTTACCCACTACTGGGTCC CTCCGCCCTCCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCC GCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACAACTG GGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACC CACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTCTGGCCCTCCACCCT CTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCCCTC CGCCCCC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18993.hp1 NA18940.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0299 a0001c0001t0001g0226 a0001c0001t0001g0299	2	378	0.0053	406	c.147 others(425): Show c.1479+3270_1479+3271insGGGGGCGGAGGGACCCAGGGTCGGTA AGGAAGGCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCAGAGGG TAGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTTGTGGGTAAGGGAGG GCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGA GGGACCCAGTTGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GGAGGGCCTAGGGACACAAGGTAGGTAAGG	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NFILZ_chr19_8625633_8686151	8663434	A A	AGCTGGTG others(399): Show AGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGT GGAGGGGACGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATG GGGAAGGTGGAGGGGGCGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAA CTGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACT GCCATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTGGGGAGGG GTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGT GGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGACG CTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGG AGGGGAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01099.hp2 HG01069.hp1 HG01099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0070 a0003c0003t0011g0072 a0003c0003t0011g0070 a0003c0003t0011g0072	2	366	0.0055	406	c.-16 others(427): Show c.-163-10991_-163-10990insGGGAGGGGTGGAACTGCCATGAAC TGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTGGGGAGGGGTGGAACTG CCATGAACTGAGATGGGGAAGGTGGAGGGGGCGCTGGTGGTGGGGAGGGG TGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGGAGCTGGTGGTG GGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGAGGGGACGC TGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGGAAGGTGGA GGGGACGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTGAGATGGGG AAGGTGGAGGGGACGCTGGTGGTGGGGAGGGGTGGAACTGCCATGAACTG AGATGGGGAAGGTGGAGGGGGCGCTGGTGGTG	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NHLRC4_chr16_562005_574495	571109	C C	CTAGCCTG others(399): Show CTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGTGCCCGTGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGT ATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGT GTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGT GTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTG GCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	424	0.0024	406	c.26 others(417): Show c.2690_*2691insTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTG TGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTATATGTGTGTG TGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCG TGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCT GGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGT CTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAG CCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTG TGTCTGGCTAGCCTGGCACCCG	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1615		chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(399): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGGGGTGAGGGAGTCGGGGGGTG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGA GGGAGTCGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	356	0.0028	406	c.91+ others(419): Show c.91+425_91+426insGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGGTGAGGGAG TCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGGTGAGGGAGTTGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGG GGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397709	T T	TGGGGGGG others(399): Show TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGG GGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	356	0.0028	406	c.91+ others(419): Show c.91+403_91+404insGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGG GGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGGGTGAGGGAGTTGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535561	T T	TGGTGGGT others(399): Show TGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGC AGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTG CAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGT GCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGG TGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19070.hp1 NA19067.hp1 NA19070.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0057 a0001c0012t0002g0140 a0001c0012t0002g0057 a0001c0012t0002g0140	2	324	0.0062	406	c.140 others(423): Show c.140+8462_140+8463insCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGATCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGG ATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGCTCCCCCCTCCACCCACC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(399): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0250 a0001c0002t0010g0250	1	324	0.0031	406	c.140 others(423): Show c.140+8190_140+8191insCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCC GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTGC CCCGGGAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRP2_chr2_205677501_205803131	205702149	G G	GTTTGGGA others(399): Show GTTTGGGACTATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGTTTCACTTGATTTTTAGTAGATTTTAT CTCATTTTATTGTTATTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTT TTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTG CCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATAT CTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGA GTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCA CCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTT ACTGAAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0246 a0001c0004t0002g0246	1	352	0.0028	406	c.251 others(423): Show c.251+4444_251+4445insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTCACTTGATTTTTAGTAGAT TTTATCTCATTTTATTGTTATTTTTTTTTTTTTTTTTTTTATTATACTCT AAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATAC ATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGG TATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCC CCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAAT TCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGAT AGTTTACTGAATTTTGGGACTATTTTCT	NRP2	ENSG00000118257.17	transcript	ENST00000357785.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCCTCCTC others(399): Show TCCTCCTCCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCTC CCCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCTCTCCCCTTCCCCT CCCCTCC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0100 a0001c0002t0019g0100	1	326	0.0031	406	c.433 others(423): Show c.433+1028_433+1029insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGAGGGGGAGGG AGGGGAGGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG GAGAGGAGAGGAGAGGAGAGGAGAGGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGGAGGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711466	A A	ACCCCCCC others(399): Show ACCCCCCCACCTCCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGG GCTGACC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02976.hp2 HG00642.hp1 HG02976.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0005c0004t0005 a0001c0001t0002 a0005c0004t0005	a0001c0001t0002g0106 a0005c0004t0005g0098 a0001c0001t0002g0106 a0005c0004t0005g0098	2	186	0.0108	406	c.242 others(423): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCACCTCCCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSBPL9_chr1_51612092_51794219	51711478	C C	CCCTCCCG others(399): Show CCCTCCCGGACGGGGAAGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CCCCCCA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	186	0.0054	406	c.242 others(423): Show c.242-2511_242-2510insAAGCTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGATCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCCGATGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCCCCCCCACCTCCCGGACGGGG	OSBPL9	ENSG00000117859.19	transcript	ENST00000428468.6	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDE11A_chr2_177618244_178077777	177946685	G G	GGGGGGGG others(399): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCAGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAAGGAGGTGGGGGGGGGTCAGCCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20300.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0059 a0001c0010t0002 a0001c0003t0059 a0001c0010t0002	a0001c0003t0059g0023 a0001c0010t0002g0022 a0001c0003t0059g0023 a0001c0010t0002g0022	2	170	0.0118	406	c.107 others(427): Show c.1072-41499_1072-41498insACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCC CCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACGG GGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PERM1_chr1_970198_987093	976842	G G	GCAACCCC others(399): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCC CCCGCCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00738.hp1 HG01109.hp2 others(1): Show HG00280.hp1 HG00738.hp1 HG01109.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0098 a0001c0001t0001g0177 a0001c0001t0001g0037 a0001c0001t0001g0098 a0001c0001t0001g0177	4	408	0.0098	406	c.215 others(423): Show c.2150-219_2150-218insTGGCGGGGGCAGGCGGTTCCCGGGGTTG GTGGGGGGAGTGGGAGGCGGTTCCCGGGTTGGTGGGGGGAGTGGGAGGCG GTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGG GGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGT GGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGT TGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTCG GGGGAGTGGGAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977160	C C	CCAACCCC others(399): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0001 a0001c0030t0001	a0001c0030t0001g0096 a0001c0030t0001g0096	1	408	0.0025	406	c.215 others(423): Show c.2150-537_2150-536insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGG CGGTTCCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTTGCGGGGGGAGTGGGAGGCGGTT CCCGGGGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGA GTGGGAGGCGGTTCCCGGGGTTGCGGGGGGGAGTGGGAGGCGGTTCCCGG GGTTGGTGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGG AGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGG TGGCGGGGGCAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PGAM5_chr12_132705842_132727734	132718615	T T	TGGGGGGT others(399): Show TGGGGGGTCCTGGGTGGGGGTGCGTGCTGGGGTGGGGGTGTCCTGGGTGG GGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGC GTGCTGGGTGGGGGGTCCTGGGTGGGGTGTCCTGGGTGGGGTGCGTGCTG GGTGGGGGGGTCCTGGGTGGGGGGTCCTGAGTGGGTGTGCGTGCTGGGTG GGGGGTGTCCTGGGTGGGGTGCATGCTGGGTTGGGGGTGTCCCTGGGTGG GGGTGCGTGCTGGGTGGGGGGTGTCCTGGGTGGGGTTGCGTGCTGGGTGG GGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGTGTCCTGGGTGGGGGTGC GTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGTGTCC CTGGGTG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0044 a0001c0002t0044	a0001c0002t0044g0224 a0001c0002t0044g0224	1	394	0.0025	406	c.719 others(421): Show c.719+499_719+500insGGTCCTGGGTGGGGGTGCGTGCTGGGGTGG GGGTGTCCTGGGTGGGGGGTCCTGAGTGGGGTGCGTGCTGGGTGGGGGTG TCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGTCCTGG GTGGGGTGCGTGCTGGGTGGGGGGGTCCTGGGTGGGGGGTCCTGAGTGGG TGTGCGTGCTGGGTGGGGGGTGTCCTGGGTGGGGTGCATGCTGGGTTGGG GGTGTCCCTGGGTGGGGGTGCGTGCTGGGTGGGGGGTGTCCTGGGTGGGG TTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCATGCTGGGTGGGGTGT CCTGGGTGGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGC TGGGTGGGGGTGTCCCTGGGTGGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PHKA1_chrX_72573814_72719306	72682077	G G	GGGGGGGT others(399): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCACCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCAAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGC CCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	237	0.0042	406	c.537 others(423): Show c.537+2420_537+2421insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTTGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGTGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72682077	G G	GGGGGGGT others(399): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCAAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGC CCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0204 a0001c0001t0003g0204	1	237	0.0042	406	c.537 others(423): Show c.537+2420_537+2421insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTTGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCCC	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PIGQ_chr16_564968_589109	571109	C C	CTAGCCTG others(399): Show CTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCT AGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTGTCTGG CTAGCCTGGTGCCCGTGTGTGTGTATATGTGTGTGTGTGTGTGTGTGTCT GGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGT ATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGT GTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGT GTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTCTGGCTAGCCTG GCACCCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0124 a0001c0002t0006g0124	1	408	0.0025	406	c.-10 others(423): Show c.-10+1014_-10+1015insAGCCTGTGTGTGTGTGTCTGGCTAGCCT GTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTATATGT GTGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGT GCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCT AGCCTGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTG TGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCACCCGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PKP3_chr11_389209_409908	398671	C C	CTACCCCC others(399): Show CTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACC CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACC TCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCT GCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTC ACCTCCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0005 a0005	a0005c0037 a0005c0037	a0005c0037t0005 a0005c0037t0005	a0005c0037t0005g0087 a0005c0037t0005g0087	1	216	0.0046	406	c.106 others(423): Show c.1069-304_1069-303insCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTC CGTCACCTCCGTACCCCCGCACACACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401566	G G	GCCCCGCT others(399): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCGGCCCCGC TCACACCCGCCCCGCTCACCCCGGCCCGCTCACCCCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCCGCCCCGCTCACACCCCGGCCCCGCTCACAC CCGCCCCGCTCACCCCCGCCCCGCTCACCCCGGCCCCGCTCACACCCGCC CCGCTCACACCGCCCCGCTCACCCCGGCCCGCTCACACCGCCCGCTCACC CCCGCCCCGCTCACCCCGGCCCGCTCACACCCGCCCCGCTCACCCCGCCC CGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACACCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	216	0.0046	406	c.173 others(423): Show c.1737+861_1737+862insCCCCGCTCACCCCCGGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCG CCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCGGCCCGC TCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCCGCCCCGCTC ACACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGCCCCGCTCACC CCGGCCCCGCTCACACCCGCCCCGCTCACACCGCCCCGCTCACCCCGGCC CGCTCACACCGCCCGCTCACCCCCGCCCCGCTCACCCCGGCCCGCTCACA CCCGCCCCGCTCACCCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLEKHN1_chr1_961482_980865	976842	G G	GCAACCCC others(399): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCC CCCGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01109.hp2 HG00280.hp2 HG00738.hp2 HG01109.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0149 a0003c0003t0001g0008 a0001c0001t0001g0001 a0001c0001t0001g0149 a0003c0003t0001g0008	3	422	0.0071	406	c.22 others(417): Show c.2267_*2268insCAACCCCGGGAACCGCCTCCCACTCCCCCGACCA ACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTGCCCCCGCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		978		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977160	C C	CCAACCCC others(399): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	406	c.25 others(417): Show c.2585_*2586insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGA ACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCGCAACCCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1296		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977192	C C	CCAACCCC others(399): Show CCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCC CGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	422	0.0024	406	c.26 others(417): Show c.2617_*2618insCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGG GAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCC CCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1328		chr1	TogoVar
PNPLA7_chr9_137454952_137555402	137517008	C C	CTGTCACT others(399): Show CTGTCACTCACTCCACTCTGTCCACTCCATCCCACACTCACTCACTCCAC TCTGTCCACTCCATCCCTCACTCACTCACTCCACTCTGTCCACTCCATCC CCACTCACTCACTCCACTCTGCTCACTCCATCCCCCACTCACTCACTCCA CTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATCC CTCACTCACTCACTCCACTCTGTCCACTCCATCCCACACTCACTCACTCC ACTCTGTCCACTCCATCCCCCACTCACTCACTCCACTCTGTCCACTCCAT CCCCCGTCACTCACTCCACTCTGTCCACTCCATCCCCCGTCACTCACTCC ACTCTGTCCACTCCATCCCCCGTCACTCACTCCACTCTGTCCACTCCATC CCACACT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0001 a0002c0016t0001	a0002c0016t0001g0100 a0002c0016t0001g0100	1	188	0.0053	406	c.108 others(425): Show c.1085-1490_1085-1489insAGTGTGGGATGGAGTGGACAGAGTGG AGTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGACGGGGGAT GGAGTGGACAGAGTGGAGTGAGTGACGGGGGATGGAGTGGACAGAGTGGA GTGAGTGAGTGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGTGGGA TGGAGTGGACAGAGTGGAGTGAGTGAGTGAGGGATGGAGTGGACAGAGTG GAGTGAGTGACGGGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGGGGG ATGGAGTGAGCAGAGTGGAGTGAGTGAGTGGGGATGGAGTGGACAGAGTG GAGTGAGTGAGTGAGGGATGGAGTGGACAGAGTGGAGTGAGTGAGTGTGG GATGGAGTGGACAGAGTGGAGTGAGTGACA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
POLG_chr15_89311320_89339824	89325115	T T	TGAGTGAG others(399): Show TGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGTGAGA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	398	0.0025	406	c.194 others(423): Show c.1949+334_1949+335insTCTCACTCACTCACTCTCTCACTCACTC TCTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTC TCACTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACTC ACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCAC TCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCTCTC ACTCACTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTC TCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCTCTCACTC ACTCACTCACTCACTCTCTCACTCACTCACTCTCACTCACTCACTCTCTC ACTCACTCTCTCACTCACTCTCTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(399): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTCTCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCT CTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCT TTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCC TTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCC TTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTC CTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCC CTTCCTC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	244	0.0041	406	c.467 others(419): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTCTCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTC TCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCT TCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCT TCCTTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCC TCCTTCCTTCTTTCTCTCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(399): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTCTCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCT CTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCT TTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCC TTCTTTCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCC TTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTC CTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCC CTTCCTC	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18988.hp2 NA18967.hp1 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0134 a0001c0002t0002g0030 a0001c0002t0002g0134	2	244	0.0082	406	c.467 others(419): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTCTCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCT CCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTC TCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTT TCTCTCCTCCCTCCCTCCTTCCTTCTTTCTCTCCTCCCTCCCTCCTTCCT TCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCT TCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCTTCC TCCTTCCTTCTTTCTCTCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRG3_chr11_57371769_57386150	57376179	C C	CCCAACCC others(399): Show CCCAACCCTCCACCCCACTCCACCCCCACCATCCACCCTATCACACCCAT CCCCTCACTCATCACCCCATCCACCTCCAACCCACACCCCACCTAACCAC CAACCCTCCCTCCCCATCCCTCCCACCCACACCCCCACCCCACTCTACCA CCCCTCACGTCCCCACTCCCACCCCTACACCCATCCCCCACCTCCACCCC CACCCCTACTTCCAACCCCTCACCTGCACCACACCATCCCTAAACCCATC CCCCCACCCCTACTCCCATCCCCCCACCTCCCACTCCCACCCCTACTCCC AACCCCCCACCTCCCACCCACACCCCTACTCCCATCCCCCCACCTCCCCA CTCCCACCCCTACTCCCATCCCCACCACCATCTCCCCCACCCCTACTCCC AACCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	396	0.0025	406	c.67 others(415): Show c.670_*671insAGGGGTTGGGAGTAGGGGTGGGGGAGATGGTGGTGG GGATGGGAGTAGGGGTGGGAGTGGGGAGGTGGGGGGATGGGAGTAGGGGT GTGGGTGGGAGGTGGGGGGTTGGGAGTAGGGGTGGGAGTGGGAGGTGGGG GGATGGGAGTAGGGGTGGGGGGATGGGTTTAGGGATGGTGTGGTGCAGGT GAGGGGTTGGAAGTAGGGGTGGGGGTGGAGGTGGGGGATGGGTGTAGGGG TGGGAGTGGGGACGTGAGGGGTGGTAGAGTGGGGTGGGGGTGTGGGTGGG AGGGATGGGGAGGGAGGGTTGGTGGTTAGGTGGGGTGTGGGTTGGAGGTG GATGGGGTGATGAGTGAGGGGATGGGTGTGATAGGGTGGATGGTGGGGGT GGAGTGGGGTGGAGGGTTGG	PRG3	ENSG00000156575.2	transcript	ENST00000287143.2	protein_coding		589		chr11	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(399): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTC TCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGC AACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTA GCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTG GCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCG TGAGCCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCAC ATATTAG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0011 a0001c0001t0006g0011	1	64	0.0156	406	c.479 others(425): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT TTTTTTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATG GCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCT CCTGCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCC CAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCC AGGCTGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCA AAGTGTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATA TTTATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(399): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTC TCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGC AACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTA GCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTG GCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCG TGAGCCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCAC ATATTAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	64	0.0156	406	c.479 others(425): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATG GCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCT CCTGCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCC CAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCC AGGCTGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCA AAGTGTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATA TTTATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51449643	A A	AACAGCAT others(399): Show AACAGCATATCATATATATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAGATGGAGTC TCGCTCTGTCACCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGC AACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCTCAGCCTCCCGAGTA GCTTGTATTATAGGCACCCGCCACCATGCCCAGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACTGTGTTGGCCAGGCTGGTCTCAAACTCCTG GCCTAGTGATCCGCCCACCTCGACCTCCCAAAGTGTTGGGATTACAAGCG TGAGCCACCGTGCCCAGCCAGCATATCATATTTATATTCTGAATTTTCAC ATATTAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0056 a0001c0007t0004g0056	1	64	0.0156	406	c.479 others(425): Show c.479-18077_479-18076insGCATATCATATATATATATATATATA TATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTAAAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATG GCGTGATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCT CCTGCTCAGCCTCCCGAGTAGCTTGTATTATAGGCACCCGCCACCATGCC CAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCC AGGCTGGTCTCAAACTCCTGGCCTAGTGATCCGCCCACCTCGACCTCCCA AAGTGTTGGGATTACAAGCGTGAGCCACCGTGCCCAGCCAGCATATCATA TTTATATTCTGAATTTTCACATATTAGACA	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPN9_chr15_75458251_75584315	75481598	C C	CGGGAGGG others(399): Show CGGGAGGGAGATGGGGGGGGTCAGCCCCCCCCACCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTAGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCCCGGCCAGCCGCCCCGTC TGGGAGGTGAGGGGCGCCTCTGCCCAGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGTCA GCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCACC CCGTCCG	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0231 a0001c0001t0013g0231	1	326	0.0031	406	c.106 others(425): Show c.1063-1685_1063-1684insCGGACGGGGTGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTC CCGGACAGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTC CTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGG CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGGGCTGACCCCCCCCATCTCCCTCCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	8/12			chr15	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(399): Show GCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	330	0.0030	406	c.-50 others(417): Show c.-5052_-5051insCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(399): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0016 a0003c0003t0001g0016	1	334	0.0030	406	c.45- others(421): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(399): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02155.hp1 NA18946.hp2 others(6): Show HG02056.hp2 HG02155.hp1 NA18946.hp2 NA18960.hp2 NA18963.hp1 NA18975.hp2 NA18977.hp2 NA19012.hp2 NA19079.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0050 a0003c0003 others(1): Show a0001c0001 a0002c0050 a0003c0003 a0006c0005	a0001c0001t0001 a0001c0001t0008 a0002c0050t0003 others(2): Show a0001c0001t0001 a0001c0001t0008 a0002c0050t0003 a0003c0003t0001 a0006c0005t0001	a0001c0001t0001g0036 a0001c0001t0001g0218 a0001c0001t0001g0224 others(6): Show a0001c0001t0001g0036 a0001c0001t0001g0218 a0001c0001t0001g0224 a0001c0001t0008g0222 a0002c0050t0003g0159 a0003c0003t0001g0219 a0003c0003t0001g0314 a0006c0005t0001g0041 a0006c0005t0001g0230	9	334	0.0270	406	c.45- others(421): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(399): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0139 a0005c0006t0002g0139	1	334	0.0030	406	c.45- others(421): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(399): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTC TTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAA	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	334	0.0030	406	c.45- others(421): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(399): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	1	334	0.0030	406	c.45- others(421): Show c.45-8581_45-8580insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(399): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATAC TGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTA TAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTAT TTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAAT ACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATA AATACTG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	332	0.0030	406	c.632 others(423): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTT ATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78430203	T T	TTGTTTAT others(399): Show TTGTTTATAAATACTGTGTTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTT ATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATACTGTA TTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAA TACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTAT TTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTG TATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATA AATACTG	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19070.hp2 HG02074.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0222 a0001c0001t0037g0213 a0001c0001t0001g0222 a0001c0001t0037g0213	2	332	0.0060	406	c.632 others(423): Show c.632+8244_632+8245insGTTTATAAATACTGTGTTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATT TATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATA CTGTATTTATTTATACTGTATTTATTTATAAATACTGTATTTATTTATAA ATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTA TTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTATAAATACT GTATTTATTTATAAATACTGTATTTATTTATAAATACTGTATTTATTTAT AAATACTGTATTTATTTATAAATACTGT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1288549	C C	CCCCGTGT others(399): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	290	0.0035	406	c.166 others(423): Show c.1662+533_1662+534insGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289615	T T	TCCCCCGT others(399): Show TCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GAGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCCCCGTCCCCCGAGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC CCCGTCC	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	290	0.0035	406	c.166 others(423): Show c.1663-653_1663-652insCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCCCCG TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGCCCCGTC CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290173	C C	CCTGCTCC others(399): Show CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCC CGTGTCTCCGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCATGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGTGTCTCTGCCCTGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCC GTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CGTGTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0211 a0001c0009t0001g0211	1	290	0.0035	406	c.166 others(421): Show c.1663-48_1663-47insGTGTCTCCGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCATGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCTGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar

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Search Results (Total: 10000 hits)