Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ST3GAL3_chr1_43702536_43936159	43911562	C C	CATATCTG others(189): Show CATATCTGTAGCTATAGATATCTATAGACATATCTGTAGCTATAGATATC TATAGACATATCTGTAGCTATAGATATCTATAGATATATCTGTAGCTATA GATATCTATAGATATATCTGTAGCTATAGATATCTATAGATATATCTGTA GCTATAGATATCTATAGATATATCTGTAGCTATAGATATCTATAGAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03927.hp1 HG01256.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0223 a0001c0001t0003g0206 a0001c0001t0003g0223	2	219	0.0091	196	c.745 others(213): Show c.745-8815_745-8814insCATATCTGTAGCTATAGATATCTATAGA CATATCTGTAGCTATAGATATCTATAGATATATCTGTAGCTATAGATATC TATAGATATATCTGTAGCTATAGATATCTATAGATATATCTGTAGCTATA GATATCTATAGATATATCTGTAGCTATAGATATCTATAGATATATCTGTA GCTATAGATATCTATAGA	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016174	G G	GTATCTCC others(189): Show GTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGT ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18950.hp2 NA18971.hp1 others(4): Show NA18944.hp2 NA18950.hp2 NA18971.hp1 NA18979.hp2 NA18993.hp1 NA18999.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0110 others(4): Show a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0110 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128	7	8	0.8750	196	c.262 others(215): Show c.262-28029_262-28028insATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCCTC CCCCTCCTCCTCCTGTATCT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
SVEP1_chr9_110360248_110584741	110390341	T T	TTATATAT others(189): Show TTATATATACTTATATAAGTATGTGTATATATACTTATATATACACATAC TTATATATACTTATATAAGTATGTGTATATATACTTATATATACACATAA GTATATATATACGTGTATATATATAAGTATATATATACTTATATAAGTAT ATATATACTTATATATATACGTATATATATACTTATATATACGTATA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0004 a0012c0025t0004	a0012c0025t0004g0132 a0012c0025t0004g0132	1	198	0.0051	196	c.982 others(213): Show c.9823-755_9823-754insTATACGTATATATAAGTATATATATACG TATATATATAAGTATATATATACTTATATAAGTATATATATACTTATATA TATACACGTATATATATACTTATGTGTATATATAAGTATATATACACATA CTTATATAAGTATATATAAGTATGTGTATATATAAGTATATATACACATA CTTATATAAGTATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SYTL3_chr6_158645054_158769871	158701295	G G	GATGAAGG others(189): Show GATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAG TGTGAGCTGGGGTGTACATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG AGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAA GGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	246	0.0041	196	c.395 others(213): Show c.395-5928_395-5927insGCTGTCTGGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGAGTGTGAGCTGG GGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCT GGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAG CTGGGGTGTACATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SZT2_chr1_43384899_43459247	43423325	A A	AGAGGTGT others(189): Show AGAGGTGTGGAAGGGCGTGGCTTAGCAGGGTATGAGTGGTACAGAGGTGT GGAGGGCATGGCTTAGCCCGGTGTGAGTAGTATAGAGGTGTGGAGTGCGT GGCTTAGTGGGGTATGAGTGGTACAAAGGTGTGGAAGGGTGTGGCTTAGC GGGGTGAGGTGTGGAAGGGCGTGGCTTAGCAGGGTATGAGTGGTACG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp2 HG02647.hp2 others(4): Show HG02257.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0001t0033 a0001c0008t0002 a0001c0001t0002 a0001c0001t0033 a0001c0008t0002	a0001c0001t0002g0006 a0001c0001t0002g0076 a0001c0001t0002g0095 others(2): Show a0001c0001t0002g0006 a0001c0001t0002g0076 a0001c0001t0002g0095 a0001c0001t0033g0055 a0001c0008t0002g0070	7	287	0.0244	196	c.225 others(212): Show c.2255+34_2255+229dupCAGGGTATGAGTGGTACAGAGGTGTGGAG GGCATGGCTTAGCCCGGTGTGAGTAGTATAGAGGTGTGGAGTGCGTGGCT TAGTGGGGTATGAGTGGTACAAAGGTGTGGAAGGGTGTGGCTTAGCGGGG TGAGGTGTGGAAGGGCGTGGCTTAGCAGGGTATGAGTGGTACGGAGGTGT GGAAGGGCGTGGCTTAG	SZT2	ENSG00000198198.17	transcript	ENST00000634258.3	protein_coding	15/71		INFO_REALIGN_3_PRIME	chr1	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(189): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	111	0.0090	196	c.-23 others(215): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC GGCTAATTTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TARBP1_chr1_234386313_234484179	234397802	G G	GAGGGGGA others(189): Show GAGGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGGAGGGGGAAGGGGGAG GAGGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGAGGGGGGAAA GAGGGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGTAGAGGGA GGGGACGGGAGGAGGGAGGGGAGGGGGGAAGAGGGGGAGGAGGTGGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0129 a0001c0032t0001g0129	1	148	0.0068	196	c.424 others(213): Show c.4243+579_4243+580insTCCACCTCCTCCCCCTCTTCCCCCCTCC CCTCCCTCCTCCCGTCCCCTCCCTCTACCCCCTCCCCTCCCTCCTCCCCT CCCCTCCCTCTTCACCCTCTTTCCCCCCTCCTTCCCCTCCCCCTTCTTCC CCTCTTCCCCCTCCCCCTCCTCCCCCTTCCCCCTCCCCCCTCCCCCTCTT CCCCCACCTCCTCCCCCT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TBC1D16_chr17_79927343_80040872	79929965	T T	TCCCCTCC others(189): Show TCCCCTCCCCTCCCCTCTCCCTCCCCTCTCCTCCCCTCCTCTCCCCTCTC CTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCTCCTCCCCTC CCCTCTCCTCTCCTCCCCTCCCCTCCTCTCCCCTCCTCTCCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0066 a0001c0002t0066	a0001c0002t0066g0310 a0001c0002t0066g0310	1	37	0.0270	196	c.10 others(209): Show c.10893_*10894insGAGAGGGGAGAGGAGGGGAGAGGAGGGGAGGG GAGGAGAGGAGAGGGGAGGGGAGGAGAGAGGAGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGGAGAG GAGAGGGGAGGGGAGGAGAGGGGAGAGGAGGGGAGGAGAGGGGAGGGAGA GGGGAGGGGAGGGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2377		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(189): Show CCCTCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTC TCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCT CCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0093 a0001c0003t0093	a0001c0003t0093g0216 a0001c0003t0093g0216	1	110	0.0091	196	c.10 others(209): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGAGAGGG GAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGAGGG GAGGAGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(189): Show CCCTCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTC TCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTC CCCTCCTCTCCCCTCCTCTCCCCCTCTCCTCCCCTCCTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	110	0.0091	196	c.10 others(209): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGGAGAG GAGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGA GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGG GAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGAGGG GAGGAGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCCCC others(189): Show CCCTCCCCTCTCCTCCCTCTCCTCTCCCTCTCCTCCCCTCCCCTCTCCTC TCCTCCCCTCCCCTCCCCTCCTCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCT CCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	110	0.0091	196	c.10 others(209): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGGAGGG GAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGAGAGGAGAGG GAGGAGAGGGGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D16_chr17_79927343_80040872	79929987	T T	TCCCCTCT others(189): Show TCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTCCCCTCCCCTCTCCTCTCC TCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCC TCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTCTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	328	0.0030	196	c.10 others(209): Show c.10871_*10872insGAGGAGAGGGGAGAGGAGGGGAGGAGAGGGGA GAGGAGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGA GGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGA GGGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGAGGA GGGGAGGAGAGGGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2355		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77992779	C C	CACTCCCC others(189): Show CACTCCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCC ACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACT CCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCA CTCCACTCCCCCCCACTCCCCCCCCACTCCCCCCCACTCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0185 a0001c0001t0010g0185	1	249	0.0040	196	c.53 others(207): Show c.5380_*5381insAGTGGGGGGAGTGGGGGGGAGTGGGGGGGGAGTG GGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAG TGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGG AGTGGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGGGGAGTGGGGGGGA GTGGGGGGGAGT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2205		chr15	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTTCTTT others(189): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0086 a0001c0005t0001g0086	1	137	0.0073	196	c.222 others(215): Show c.222+12040_222+12041insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTC	TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
TCN2_chr22_30602174_30632271	30623921	T T	TACACACA others(189): Show TACACACATACATATATACACATATACACACACACATATATACACACATG TATACATATATATACACACATGTATACATATGTATACACACATATATATG TATACATATGTATACACACACATATATATGTATACATATATACACACACA TATATGTATACATATATACACACATGTATACATATATACACACATAC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	359	0.0028	196	c.122 others(213): Show c.1222+839_1222+840insCACACATACATATATACACATATACACA CACACATATATACACACATGTATACATATATATACACACATGTATACATA TGTATACACACATATATATGTATACATATGTATACACACACATATATATG TATACATATATACACACACATATATGTATACATATATACACACATGTATA CATATATACACACATACA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TFDP1_chr13_113579753_113646473	113625721	T T	TTCAGGCG others(189): Show TTCAGGCGTCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTCCTCAGGCG TCTCTCACGTGTCCTCAGGTGTCTCACGCGTCCTCAGGTGTCTCACGCGT CCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCTCACGCGTCCTCAGGT GTCTCTCACATGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00558.hp1 others(18): Show HG00099.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00741.hp2 HG01069.hp2 HG01256.hp1 HG01258.hp1 HG01884.hp1 HG02027.hp1 HG02258.hp1 HG02523.hp2 HG02970.hp1 HG03225.hp1 HG03516.hp1 HG03579.hp2 HG03927.hp1 NA18942.hp2 NA19007.hp1 NA19010.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0008 a0001c0001t0001 a0001c0003t0001 a0001c0003t0008	a0001c0001t0001g0003 a0001c0001t0001g0207 a0001c0001t0001g0208 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0279 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0157 a0001c0003t0008g0149	21	32	0.6563	196	c.186 others(213): Show c.186+2503_186+2504insTGTCTCACGCGTCCTCAGGTGTCTCACG CGTCCTCAGGTGTCTCTCACGCGTCCTCAGGTGTCTCTCACGCGTCCTCA GGTGTCTCTCACATGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTC TCAGGCGTCTCTCACGTGTCCTCAGGCGTCTCTCACGTGTCCTCAGGCGT CTCTCACGTGTCCTCAGG	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
TF_chr3_133741393_133801641	133785382	G G	GTCCGGGA others(189): Show GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGACCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGACCAGCCGCCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0024 a0001c0003t0005g0024	1	384	0.0026	196	c.67 others(207): Show c.6781_*6782insGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGACCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCGGCCCCCCGCCCGACCAGCCGCCCCATCCGGGA GGGAGGTGGGGG	TF	ENSG00000091513.16	transcript	ENST00000402696.9	protein_coding	17/17	6782	INFO_REALIGN_3_PRIME	chr3	TogoVar
TLN2_chr15_62385550_62849631	62825803	A A	ATATTATA others(189): Show ATATTATATATTATAATATATATTATATATTATATATTATAATATATATT ATATATTATAATATATATTATATATTATATTATAATATATATTATATATT ATAATATATATTATATTATAATATATATTATATATTATAATATATAATAT ATATTATATTATAATATATATTATATATTATAATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0004 a0001c0048t0004	a0001c0048t0004g0075 a0001c0048t0004g0075	1	140	0.0071	196	c.700 others(215): Show c.7002+5196_7002+5197insTATATATTATAATATATATTATATAT TATATATTATAATATATATTATATATTATAATATATATTATATATTATAT TATAATATATATTATATATTATAATATATATTATATTATAATATATATTA TATATTATAATATATAATATATATTATATTATAATATATATTATATATTA TAATATATAATATATATTAT	TLN2	ENSG00000171914.17	transcript	ENST00000636159.2	protein_coding	54/58		INFO_REALIGN_3_PRIME	chr15	TogoVar
TMC8_chr17_78125771_78147968	78143074	A A	ACAGGTTC others(189): Show ACAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTGAGTAGCTGGGACTAG AGGCACCTACCACCATGCCTGGCTAATTTTTTGTTTTGTTTTGTTTTTGT TTTTGTTTTTGTTTTTGTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAG GCTGGAGTGCAATGGCACGATCTTGGCTCACTGCAACCTCTGCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	262	0.0038	196	c.19 others(207): Show c.1962_*1963insCAGGTTCAAGCCATCCTCCTGCCTTAGCCTCCTG AGTAGCTGGGACTAGAGGCACCTACCACCATGCCTGGCTAATTTTTTGTT TTGTTTTGTTTTTGTTTTTGTTTTTGTTTTTGTTTTTGAGATGGAGTTTT GCTCTTGTTGCCCAGGCTGGAGTGCAATGGCACGATCTTGGCTCACTGCA ACCTCTGCCTCC	TMC8	ENSG00000167895.16	transcript	ENST00000318430.10	protein_coding		107		chr17	TogoVar
TMCO3_chr13_113486021_113555229	113543205	T T	TGTCCGTG others(189): Show TGTCCGTGACCCCACCTCCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGA CCCCACCTCCTCCCCCTGCCCCTCGCCCTCCCTGTCCGTGACCACCACCT CCCCCTGCGCCCCTACCCTCCCTGTGTGTTACCCCCACCTCCTCTCCCTG CCCCCCCGTCCGTGACCCCCACCTCCTCCCCCTGCCCCTCGCCCTCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0263 a0002c0003t0003g0263	1	298	0.0034	196	c.169 others(215): Show c.1690+3698_1690+3699insGTCCGTGACCCCACCTCCTCCCCCTG CCCCCCGCCCTCCCTGTCCGTGACCCCACCTCCTCCCCCTGCCCCTCGCC CTCCCTGTCCGTGACCACCACCTCCCCCTGCGCCCCTACCCTCCCTGTGT GTTACCCCCACCTCCTCTCCCTGCCCCCCCGTCCGTGACCCCCACCTCCT CCCCCTGCCCCTCGCCCTCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12			chr13	TogoVar
TMEM132D_chr12_129066726_129909025	129088052	T T	TGTCCTCC others(189): Show TGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGGCATCCTCCATGACCG GGGCGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGGCGTCCTCCATGACCGGGGCATCCTCCATGACCGGGGCATCCTCC ATGACCGGGGTGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02976.hp1 others(1): Show HG02109.hp1 HG02647.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0002t0001 a0001c0001t0001 a0001c0001t0014 a0001c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0083 a0001c0001t0014g0004 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0083 a0001c0001t0014g0004 a0001c0002t0001g0073	4	91	0.0440	196	c.144 others(215): Show c.1444-3351_1444-3350insGCCCCGGTCATGGAGGACGCCCCGGT CATGGAGGACACCCCGGTCATGGAGGATGCCCCGGTCATGGAGGATGCCC CGGTCATGGAGGACGCCCCGGTCATGGAGGACACCCGGTCATGGAGGACA CCCCGGTCATGGAGGACGCCCCGGTCATGGAGGATGCCCCGGTCAGGGAG GACACCCGGTCATGGAGGAC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129088052	T T	TGTCCTCC others(189): Show TGTCCTCCATGACCGGGTGTCCTCCCTGACCGGGGCATCCTCCATGACCG GGGCGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGGCGTCCTCCATGACCGGGGCATCCTCCATGACCGGGGCGTCCTCC ATGACCGGGGTGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGGC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0092 a0001c0001t0008g0092	1	88	0.0114	196	c.144 others(215): Show c.1444-3351_1444-3350insGCCCCGGTCATGGAGGACGCCCCGGT CATGGAGGACACCCCGGTCATGGAGGACGCCCCGGTCATGGAGGATGCCC CGGTCATGGAGGACGCCCCGGTCATGGAGGACACCCGGTCATGGAGGACA CCCCGGTCATGGAGGACGCCCCGGTCATGGAGGATGCCCCGGTCAGGGAG GACACCCGGTCATGGAGGAC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM271_chr4_568880_581295	576951	G G	GGGGGGGG others(189): Show GGGGGGGGTGGGAAGGAGCCCGGGGAGGGAGGGGGAGGGGCCGGGAGCTG GGGGGGGTGGGAAGGAGCCCGGGGAGGGAGGGGGAGGGGCCGGGAGCTGG GGGGGGTGGGAAGGAGCCCGGGGAGGGAGGGGGAGGGGCCGGGAGCTGGG GGGGGGTGGGAAGGAGCCCGGGGAGGGAGGGGGAGGGGCCGGGAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	315	0.0032	196	c.-89 others(205): Show c.-890_-889insAGCTCCCGGCCCCTCCCCCTCCCTCCCCGGGCTCCT TCCCACCCCCCCCCAGCTCCCGGCCCCTCCCCCTCCCTCCCCGGGCTCCT TCCCACCCCCCCCAGCTCCCGGCCCCTCCCCCTCCCTCCCCGGGCTCCTT CCCACCCCCCCCAGCTCCCGGCCCCTCCCCCTCCCTCCCCGGGCTCCTTC CCACCCCCCC	TMEM271	ENSG00000273238.3	transcript	ENST00000610212.3	protein_coding		657		chr4	TogoVar
TMEM65_chr8_124301189_124377701	124302505	A A	ACATATAT others(189): Show ACATATATATTCTTTTATATATTTATATAAATATATATTCTTTTATATAT TTATATATAAATATATATTCTTTTATTTATATATAAATATATATTCTTTT ATATATTTATATATAAATATATATTCTTTTATATATTTATATATAAATAT ATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0259 a0001c0001t0055g0259	1	306	0.0033	196	c.11 others(209): Show c.11454_*11455insAATATATAAAAGAATATATATTTATATATAAA TATATAAAAGAATATATATTTATATATAAATATATAAAAGAATATATATT TATATATAAATATATAAAAGAATATATATTTATATATAAATAAAAGAATA TATATTTATATATAAATATATAAAAGAATATATATTTATATAAATATATA AAAGAATATATATG	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3683		chr8	TogoVar
TOLLIP_chr11_1269371_1314632	1287422	A A	AGCCTCCC others(189): Show AGCCTCCCCGCCGCGCCCTCCCCGCCGCGCCCTCCCCGCCGCGCCCTCCC CGCCGCGCCCTCCCCGCCGCGCCCTCCCCGCCGCGCCCTCCCCGCCGCGC CCTCCCCGCCGCAGCCTCCCCGCCGCGCCCTCCCCGCCGCGCCCTCCCCG CCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03516.hp1 HG02559.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	2	345	0.0058	196	c.519 others(213): Show c.519+1201_519+1202insCGCGGCGGGGAGGCTGCGGCGGGGAGGC TGCGGCGGGGAGGCTGCGGCGGGGAGGGCGCGGCGGGGAGGGCGCGGCGG GGAGGCTGCGGCGGGGAGGGCGCGGCGGGGAGGGCGCGGCGGGGAGGGCG CGGCGGGGAGGGCGCGGCGGGGAGGGCGCGGCGGGGAGGGCGCGGCGGGG AGGGCGCGGCGGGGAGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287605	C C	CCCTCCCC others(189): Show CCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCC GCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACC CTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	243	0.0041	196	c.519 others(213): Show c.519+1018_519+1019insCTGCGGCGGGGAGGGTGCGGCGGGGAGG CTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCG GGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287759	C C	CCCTCCCC others(189): Show CCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGC CTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGC CGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0094	1	278	0.0036	196	c.519 others(211): Show c.519+864_519+865insCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGG GAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGC GGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGA GGGTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAG others(189): Show CGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAC CCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCG CCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCC TCCCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCTCT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0123 a0001c0002t0007g0123	1	162	0.0062	196	c.519 others(211): Show c.519+787_519+788insAGAGAGGGTGCGGCGGGGAGGGTGCGGCGG GGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTG CGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGG AGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCG GCGGGGAGGCTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287836	C C	CGCCGCAG others(189): Show CGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAC CCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCAGCCTCCCCG CCGCAGCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCC TCCCCGCCGCACCCTCCCCGCCGCACCCTCTCTGCCGCAGCCTCCCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0200 a0001c0016t0002g0200	1	162	0.0062	196	c.519 others(211): Show c.519+787_519+788insAGGGAGGCTGCGGCAGAGAGGGTGCGGCGG GGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTG CGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGG AGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCG GCGGGGAGGCTGCGGC	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOLLIP_chr11_1269371_1314632	1287848	C C	CCCGCCGC others(189): Show CCCGCCGCACCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGC AGCCTCCCCGCCGCAGCCTCACCGCCGCAGCCTCCCCGCCGCAGCCTCCC CGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAC CCTCCCCGCCGCACCCTCCCCGCTGCAGCCTCCCTGCCGCACCCTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	317	0.0032	196	c.519 others(211): Show c.519+775_519+776insAGAGGGTGCGGCAGGGAGGCTGCAGCGGGG AGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCG GCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGTGAG GCTGCGGCGGGGAGGCTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGC GGGGAGGGTGCGGCGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930556	C C	CTGGGGTT others(189): Show CTGGGGTTAGGAAGGCCGGGGTTAGGGAGGCCAGGGGTCAGGGAGGCCAG GGGTTAGGGAGGCCAGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0025	1	434	0.0023	196	c.50 others(207): Show c.5034_*5035insCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCT CCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAA CCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCTG GCCTCCCTAACCCCTGGCCTCCCTGACCCCTGGCCTCCCTAACCCCGGCC TTCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4813		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CCAGGGGT others(189): Show CCAGGGGTCAGGGAGGCCAGGGGTAGGGAGGCCGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTA GGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	393	0.0025	196	c.49 others(207): Show c.4971_*4972insCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCT CCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTA ACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCC GGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTACCCCTGGCCT CCCTGACCCCTG	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930835	G G	GTTATGGA others(189): Show GTTATGGAGGCAGGGATTATGGAGGCAGGGATTATGGAGGCAGGGATTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAGGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	362	0.0028	196	c.47 others(207): Show c.4755_*4756insTCCCTGCCTCCCTAATCCCTGCCTCCATAATCCC TGCCTCCATAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGCCTCCATAATCCCTGCCTCCATAATCC CTGCCTCCATAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4534		chr11	TogoVar
TRANK1_chr3_36821819_36950054	36879825	T T	TATATAAA others(189): Show TATATAAATATATATAAATATATATAAATATGTAAATATATAAATATATA TAAATATATATATAAATATGTAAATATATAAATATATGTAAATATGTAAA TATATAAATATATGTAAATATATAAATATATATAAATATATGTAAATATA TAAATATATAAATATATGTAAATATATAAATATATAAATATAAGTAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0041 a0001c0004t0007g0041	1	312	0.0032	196	c.908 others(213): Show c.908-5530_908-5529insTTACTTATATTTATATATTTATATATTT ACATATATTTATATATTTATATATTTACATATATTTATATATATTTATAT ATTTACATATATTTATATATTTACATATTTACATATATTTATATATTTAC ATATTTATATATATATTTATATATATTTATATATTTACATATTTATATAT ATTTATATATATTTATAT	TRANK1	ENSG00000168016.15	transcript	ENST00000645898.2	protein_coding	8/23			chr3	TogoVar
TRIM24_chr7_138455259_138594996	138531246	A A	ATGTTACA others(189): Show ATGTTACATATGTTACATATGTTTACATGTGTTACATATGTTACATATGT TTACATGTGTTACATATGTTACATATGTTTACATGTGTTACATATGTTTA CATGTGTTACATATGTTACATATGTTTACATGTGTTACATATGTTACATA TGTTTACATGTGTTACATGTGTTACATATGTTACATATGTTTACATG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0057 a0001c0004t0057	a0001c0004t0057g0109 a0001c0004t0057g0109	1	304	0.0033	196	c.996 others(213): Show c.996+2056_996+2057insTACATATGTTTACATGTGTTACATATGT TACATATGTTTACATGTGTTACATATGTTTACATGTGTTACATATGTTAC ATATGTTTACATGTGTTACATATGTTACATATGTTTACATGTGTTACATG TGTTACATATGTTACATATGTTTACATGTGTTACATATGTTACATATGTT TACATGTGTTACATATGT	TRIM24	ENSG00000122779.18	transcript	ENST00000343526.9	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
TRIM28_chr19_58539064_58555715	58542501	T T	TCCCCACA others(189): Show TCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACATAC ACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACACACCCTGCTTCC CTCCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGACA GGGCTCCCCTCCCCACACAGACCCTCTTTCCCTCAGACAGGATTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	400	0.0025	196	c.-22 others(207): Show c.-2257_-2256insCCCCACACACACCCTGCTTCCCTCCTCAGACAGG ATTCTCCCCACATACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCAC ACACACCCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGACCCTGC TTCCCTCCTCAGACAGGGCTCCCCTCCCCACACAGACCCTCTTTCCCTCA GACAGGATTTTC	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		1562		chr19	TogoVar
TRIML1_chr4_188134441_188152743	188151827	A A	AGTGGGGG others(189): Show AGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAG TGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTG GGGGTGAGAAGGGGAGTGAGAGAGAGGGTTGAGAAGGGGAAGTGAGAGTG GGGGTGAGAAGGGGAAGTGAGAGTGGGGGTGAGAAGGGAGTGAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	129	0.0078	196	c.44 others(207): Show c.4455_*4456insGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGA GAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGA AGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGAGGGTTGAGAA GGGGAAGTGAGAGTGGGGGTGAGAAGGGGAAGTGAGAGTGGGGGTGAGAA GGGAGTGAGAGT	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4085		chr4	TogoVar
TSEN34_chr19_54186308_54199532	54188026	A A	AAAGGAAG others(189): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	429	0.0023	196	c.-33 others(207): Show c.-3339_-3338insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGG	TSEN34	ENSG00000170892.13	transcript	ENST00000396388.3	protein_coding		3281		chr19	TogoVar
TTC5_chr14_20281227_20310951	20310304	A A	AGTCAGCC others(189): Show AGTCAGCCCCCCACCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03540.hp1 HG01891.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0048 a0001c0002t0017 a0001c0002t0048	a0001c0002t0017g0064 a0001c0002t0048g0063 a0001c0002t0017g0064 a0001c0002t0048g0063	2	303	0.0066	196	c.-43 others(207): Show c.-4368_-4367insCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGG TGGGGGGCTGAC	TTC5	ENSG00000136319.12	transcript	ENST00000258821.8	protein_coding		4354		chr14	TogoVar
TWIST2_chr2_238843085_238915534	238870348	A A	ACACCCCA others(189): Show ACACCCCATACACACCACACCCCACACACACCACACCCCACACACACCAC ACCCCACACACACCACACACCCCACACACACCACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACCCCACACACACCACACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18945.hp1 NA18982.hp2 others(1): Show HG02132.hp2 NA18945.hp1 NA18982.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0125 a0001c0001t0001g0161 others(1): Show a0001c0001t0001g0093 a0001c0001t0001g0125 a0001c0001t0001g0161 a0001c0001t0001g0279	4	332	0.0120	196	c.35 others(215): Show c.35+21618_*35+21619insCCCATACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCACACACACCACACACCCCACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355861	A A	ATATACGC others(189): Show ATATACGCATACACACATATATGTGTGTGTATACGCATACACACATATAT GTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02027.hp2 HG02056.hp2 others(2): Show HG00323.hp2 HG02027.hp2 HG02056.hp2 HG02559.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0022 a0001c0001t0003 a0001c0001t0022	a0001c0001t0003g0020 a0001c0001t0003g0110 a0001c0001t0003g0120 others(2): Show a0001c0001t0003g0020 a0001c0001t0003g0110 a0001c0001t0003g0120 a0001c0001t0003g0155 a0001c0001t0022g0119	5	204	0.0245	196	c.-38 others(207): Show c.-3855_-3854insTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTG TATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTG	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3738		chr11	TogoVar
UCN3_chr10_5359966_5379692	5370051	G G	GTATATGC others(189): Show GTATATGCGTGTGTATGTGTGTGTATATATGTGTGTATATATGTGTGTGT ATATGTGTGTGTATATGCGTGTGTATGTGTGTGTATATGTGTGTGTATAT GCGTGTGTATATGTGTGTGTATATGTGTGTGTGTGTATATGCGTGTGTAT GTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATATGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0170 a0002c0002t0003g0170	1	307	0.0033	196	c.-6- others(211): Show c.-6-3661_-6-3660insATGCGTGTGTATGTGTGTGTATATATGTGT GTATATATGTGTGTGTATATGTGTGTGTATATGCGTGTGTATGTGTGTGT ATATGTGTGTGTATATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGT GTATATGCGTGTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGT ATATGTGTGTGTATAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
USF3_chr3_113643385_113701642	113683243	C C	CTCTAGTT others(189): Show CTCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAA ACTATTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTTTAATCT ATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTATTATCTAGTTTT TAATCTATAAAAACTATTATCTAGTTTTTAATCTATAAAAACTATTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG03516.hp2 others(2): Show HG02486.hp2 HG02572.hp2 HG03516.hp2 NA18962.hp2 NA18969.hp2	a0002 a0005 a0002 a0005	a0002c0003 a0005c0007 a0005c0008 a0002c0003 a0005c0007 a0005c0008	a0002c0003t0001 a0002c0003t0008 a0005c0007t0019 others(2): Show a0002c0003t0001 a0002c0003t0008 a0005c0007t0019 a0005c0008t0010 a0005c0008t0049	a0002c0003t0001g0117 a0002c0003t0008g0116 a0005c0007t0019g0056 others(2): Show a0002c0003t0001g0117 a0002c0003t0008g0116 a0005c0007t0019g0056 a0005c0008t0010g0045 a0005c0008t0049g0044	5	178	0.0281	196	c.-13 others(215): Show c.-134-5847_-134-5846insTAATAGTTTTTATAGATTAAAAACTA GATAATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATAGATTAA AAACTAGATAATAGTTTTTATAGATTAAAAACTAGATAATAGTTTTTATA GATTAAAAACTAGATAATAGTTTTTATAGATTAAAAACTAGATAATAGTT TTTATAGATTAAAAACTAGA	USF3	ENSG00000176542.10	transcript	ENST00000316407.9	protein_coding	1/6			chr3	TogoVar
USP43_chr17_9640517_9734687	9718678	T T	TAAAAATA others(189): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGTGACAGAG CGAGACTCCGTCTCAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02080.hp2 HG02165.hp2 others(3): Show HG00423.hp2 HG02080.hp2 HG02165.hp2 HG03492.hp1 NA18983.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0007 others(1): Show a0001c0003 a0001c0004 a0001c0007 a0002c0017	a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 others(2): Show a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0007t0001 a0002c0017t0001	a0001c0003t0001g0090 a0001c0003t0005g0096 a0001c0004t0001g0270 others(3): Show a0001c0003t0001g0090 a0001c0003t0005g0096 a0001c0004t0001g0270 a0001c0004t0001g0302 a0001c0007t0001g0091 a0002c0017t0001g0087	6	298	0.0201	196	c.233 others(215): Show c.2335+6558_2335+6559insAATTAGCCGGGCGTAGTGGCGGGCGC CTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCT GGGTGACAGAGCGAGACTCCGTCTCAAAGAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAATACAAAA	USP43	ENSG00000154914.17	transcript	ENST00000285199.12	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
VCX_chrX_7838171_7849143	7844254	A A	AGGGAGGA others(189): Show AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 NA19059.hp1 HG00280.hp1 NA19059.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0006	a0001c0001t0001g0001 a0002c0002t0006g0004 a0001c0001t0001g0001 a0002c0002t0006g0004	2	258	0.0078	196	c.23 others(205): Show c.238_*239insGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		112		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159129392	G G	GGTGGGGA others(189): Show GGTGGGGACAGGGCCAGGTGACCAGCTTCACACTCTGTTCCCTCAAACTG GCCTCTGGCGGGGACAGGGCTGGGGGGACAGGGCCAGGTGACCAGCTTCA CACTCTGTTCCCTCAAACTGGACTCTGGTGGGGACAGGGCCAGGTGACCA GCTTCACACTCTGTTCCCTCAAACTGGCCTCTGGGGGGGACAGGGCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0020 a0001c0005t0006g0020	1	309	0.0032	196	c.151 others(215): Show c.151+13053_151+13054insAGCCCTGTCCCCCCCAGAGGCCAGTT TGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCACCAGAGT CCAGTTTGAGGGAACAGAGTGTGAAGCTGGTCACCTGGCCCTGTCCCCCC AGCCCTGTCCCCGCCAGAGGCCAGTTTGAGGGAACAGAGTGTGAAGCTGG TCACCTGGCCCTGTCCCCAC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	2/12			chr7	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(189): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01346.hp1 HG01928.hp1 others(6): Show HG00735.hp2 HG01346.hp1 HG01928.hp1 HG02004.hp1 NA18948.hp1 NA18957.hp1 NA18965.hp1 NA18986.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0055 a0001c0002t0001g0063 others(2): Show a0001c0002t0001g0001 a0001c0002t0001g0055 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0176	9	185	0.0486	196	c.53+ others(211): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(189): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18953.hp1 NA18974.hp1 others(1): Show NA18939.hp2 NA18953.hp1 NA18974.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0002t0001g0068 a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0002t0001g0068	4	180	0.0222	196	c.53+ others(211): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS53_chr17_503668_719839	548443	G G	GACTACAC others(189): Show GACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACG ACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACAA CTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACGAC TACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAACA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0022 a0003c0004t0006g0022	1	224	0.0045	196	c.186 others(215): Show c.1866+3428_1866+3429insTGTTGGATGATTCCAGAAGGACTGTT GGCTGGCCAAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTG GCTGGCCAAAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGG CTGGCCAAAGTGGAGTGTAGTCGTTGGATGATTCCAGAAGGACTGTTGGC TGGCCAAAGTGGAGTGTAGT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548484	C C	CATCCAAC others(189): Show CATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT ATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCA TCCAACAACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCAT CCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0113 a0001c0006t0001g0113	1	202	0.0050	196	c.186 others(215): Show c.1866+3387_1866+3388insATTTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCATTGGATGATTCCAGAAGGACTGTTGGCTGGCCA AAGTGGAGTGTAGTTGTTGGATGATTCCAGAAGGACTGTTGGCTGGCCAA AGTGGAGTGTAGTCGTTGGATATTTCCAGAAGGACTGTTGGCTGGCCAAA GTGGAGTGTAGTCGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar

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