Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(228): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18955.hp1 HG02083.hp1 NA18955.hp1	a0002 a0003 a0002 a0003	a0002c0025 a0003c0006 a0002c0025 a0003c0006	a0002c0025t0002 a0003c0006t0003 a0002c0025t0002 a0003c0006t0003	a0002c0025t0002g0038 a0003c0006t0003g0039 a0002c0025t0002g0038 a0003c0006t0003g0039	2	256	0.0078	235	c.165 others(252): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401321	G G	GCCCCGCT others(228): Show GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACAACCCGCC CCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCC GCTCACACCCCGCCCCGCTCACAACCCGGCCCCGCTCACACCCGACCCGC TCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0073 a0005c0009t0001g0073	1	242	0.0041	235	c.45 others(246): Show c.4574_*4575insGCGGGTGTGAGCGGGCCGGGGGTGAGCGGGGCGG GTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGGT GAGCGGGTCGGGTGTGAGCGGGGCCGGGTTGTGAGCGGGGCGGGGTGTGA GCGGGGCCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGC GGGGCGGGTTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGG G	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4394		chr11	TogoVar
SIGIRR_chr11_400716_419999	401443	C C	CGGCCCCG others(228): Show CGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCCGCTCACCCCGG CCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCG CTCACACCCGCCCCGCTCACCCCCCGGCCCCGCTCACCCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	242	0.0041	235	c.44 others(246): Show c.4452_*4453insCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGGTGAGCGGGGCGGGTGTG AGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGG GGCCGGGGTGAGCGGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGC C	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4272		chr11	TogoVar
SIGIRR_chr11_400716_419999	401443	C C	CGGCCCCG others(228): Show CGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGC CCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGC TCACACCCGCCCCGCTCACCCCCCGGCCCCGCTCACACCCCGGCCCCGCT CACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCAC ACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	242	0.0041	235	c.44 others(246): Show c.4452_*4453insCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCCGGGGTGTGAGCGGGGCCGGGGGGTGAGCGGGGCGGGTGT GAGCGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCG GGGCCGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGC C	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4272		chr11	TogoVar
SLC25A41_chr19_6421037_6438763	6429100	T T	TATATATA others(228): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATATGTTAT ATATATATATAATATATATATTATATATATGTTACATATATATAATATAT ATATTATATATATGTTACATATATATAATATATATATTATATATATGTTA TATATATATATAATATATATATTATATATATGTTAC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0263 a0001c0002t0001g0263	1	350	0.0029	235	c.624 others(250): Show c.624+623_624+624insGTAACATATATATAATATATATATTATATA TATATATAACATATATATAATATATATATTATATATATGTAACATATATA TAATATATATATTATATATATGTAACATATATATAATATATATATTATAT ATATATATAACATATATATAATATATATATTATATATATGTAACATATAT ATAATATATATATTATATATATATATAACATATATATAATATATATATTA TATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC3A1_chr2_44270480_44326494	44281377	T T	TACTCATT others(228): Show TACTCATTAGGTTTAAAATTAATCATCGATTTCATACCAAACCACACGAG TGATAAACATATTTGGTTTCAATTGAGTCGGACACGGACAGGAAAATATA CTGATTATTATATCTGGCATGACTGTACCCATGAAAATGGCAAAACCATT CCACCCAACAACTGGGTAAGTATCAACCTGTCTGACTTACAAAGGGGTAA AAGGCAGATATGTAGTGATTGAACTGATTTAGTAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0003 a0001c0018t0003	a0001c0018t0003g0033 a0001c0018t0003g0033	1	354	0.0028	235	c.611 others(247): Show c.611-7_765+73dupTCATTAGGTTTAAAATTAATCATCGATTTCATA CCAAACCACACGAGTGATAAACATATTTGGTTTCAATTGAGTCGGACACG GACAGGAAAATATACTGATTATTATATCTGGCATGACTGTACCCATGAAA ATGGCAAAACCATTCCACCCAACAACTGGGTAAGTATCAACCTGTCTGAC TTACAAAGGGGTAAAAGGCAGATATGTAGTGATTGAACTGATTTAGTAAA AC	SLC3A1	ENSG00000138079.14	transcript	ENST00000260649.11	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC66A2_chr18_79897420_79956653	79952631	G G	GGCGCGCG others(228): Show GGCGCGCGGGTGAAGAGTGAGGGGCGCGCTGGTGAGGGGTGAGGGGCGCG CGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGAGTGAGGGGCGCGCTGGTG AGGCGTGAGTGATGCGCGGGTGAAGGGTGAGGGGCGCGCGGGTGAAGAGT GAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGG CGCGCGGGTGAAGAGTGAGGGGCGCGCTGGTGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0292 a0001c0001t0014g0292	1	352	0.0028	235	c.-11 others(246): Show c.-1151_-1150insGCCTCACCAGCGCGCCCCTCACTCTTCACCCGCG CGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCC TCACTCTTCACCCGCGCGCCCCTCACCCTTCACCCGCGCATCACTCACGC CTCACCAGCGCGCCCCTCACTCTTCACCCGCGCGCCCCTCACCCCTCACC CGCGCGCCCCTCACCCCTCACCAGCGCGCCCCTCACTCTTCACCCGCGCG C	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		979		chr18	TogoVar
SLC9A7_chrX_46594251_46764118	46758516	G G	GAATTGTT others(228): Show GAATTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAACACAA ACTAATCAATTTTATTCATACTACTCATGAAAAGCAATTACATTTTTACA TAAAATCATTAACACATACAATAGAAATAATAAGAGTAATACATCTGATT AGAAATACAATATAGGAAATAGATTTTAAAATAGCATATTTTAGTGATGA AATTTATATTTTCTACTTATTTATAGCAGCATCTGT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	250	0.0040	235	c.325 others(250): Show c.325+188_325+189insACAGATGCTGCTATAAATAAGTAGAAAATA TAAATTTCATCACTAAAATATGCTATTTTAAAATCTATTTCCTATATTGT ATTTCTAATCAGATGTATTACTCTTATTATTTCTATTGTATGTGTTAATG ATTTTATGTAAAAATGTAATTGCTTTTCATGAGTAGTATGAATAAAATTG ATTAGTTTGTGTTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA CAATT	SLC9A7	ENSG00000065923.10	transcript	ENST00000616978.5	protein_coding	1/16			chrX	TogoVar
SLC9A8_chr20_49807828_49897242	49834339	A A	ATATATAC others(228): Show ATATATACAGTATATATATACACACAGTATATATATATACAGTATATATA TATACACAGTATATATATATACAGTATATATATATACACAGTATATATAT ATACAGTATATATATATACACAGTATATATATATATACACACACTGTATA TATAGTGTGTGTATATACATATACTGTGTGTATATATAGTGCATATAGTG CGTATATACAGTGTGTGTATATACATAGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0353 a0001c0002t0001g0353	1	360	0.0028	235	c.290 others(252): Show c.290-5196_290-5195insCAGTATATATATACACACAGTATATATA TATACAGTATATATATATACACAGTATATATATATACAGTATATATATAT ACACAGTATATATATATACAGTATATATATATACACAGTATATATATATA TACACACACTGTATATATAGTGTGTGTATATACATATACTGTGTGTATAT ATAGTGCATATAGTGCGTATATACAGTGTGTGTATATACATAGTGTGTGT GTATATA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC9A8_chr20_49807828_49897242	49834339	A A	ATATATAC others(228): Show ATATATACAGTATATATATACACACAGTATATATATATACAGTATATATA TATACACAGTATATATATATACAGTATATATATATACACAGTATATATAT ATACAGTATATATATATACACAGTATATATATATATATACACACTGTATA TATAGTGTGTGTATATACATATACTGTGTGTATATATAGTGCATATAGTG CGTATATACAGTGTGTGTATATACATAGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01255.hp1 HG02738.hp1 others(1): Show HG01099.hp2 HG01255.hp1 HG02738.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0352 a0001c0002t0001g0354 a0001c0002t0001g0355 others(1): Show a0001c0002t0001g0352 a0001c0002t0001g0354 a0001c0002t0001g0355 a0001c0002t0001g0358	4	360	0.0111	235	c.290 others(252): Show c.290-5196_290-5195insCAGTATATATATACACACAGTATATATA TATACAGTATATATATATACACAGTATATATATATACAGTATATATATAT ACACAGTATATATATATACAGTATATATATATACACAGTATATATATATA TATACACACTGTATATATAGTGTGTGTATATACATATACTGTGTGTATAT ATAGTGCATATAGTGCGTATATACAGTGTGTGTATATACATAGTGTGTGT GTATATA	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNAPC4_chr9_136370571_136405170	136403327	G G	GAGAAAGG others(228): Show GAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAA GGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGG ACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACA GGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	380	0.0026	235	c.-32 others(246): Show c.-3204_-3203insTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGAC CCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCT GTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTC CCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCT TTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTC T	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3158		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403374	G G	GAGAAAGG others(228): Show GAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAA GGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGG ACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACA GGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0029 a0029	a0029c0048 a0029c0048	a0029c0048t0001 a0029c0048t0001	a0029c0048t0001g0081 a0029c0048t0001g0081	1	380	0.0026	235	c.-32 others(246): Show c.-3251_-3250insTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGAC CCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCT GTCCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTC CCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCT TTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTC T	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3205		chr9	TogoVar
SNTG2_chr2_945849_1372613	965203	C C	CTTGGACC others(228): Show CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCA ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGG ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	190	0.0053	235	c.72+ others(252): Show c.72+14136_72+14137insTGGACCCCAATCCTCCTCCTGGTCCCCA GTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT TGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAAT CCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGG TCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCT CCTCCTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1111962	C C	CAGTCCTT others(228): Show CAGTCCTTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATAC TCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTAGAGTCC TTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTACAGTCCTTT GAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTATACTCCTTTGAG GAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00438.hp1 others(63): Show HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG02015.hp1 HG02071.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02683.hp2 HG02735.hp2 HG02738.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03225.hp2 HG03239.hp2 HG03540.hp1 HG03654.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18983.hp2 NA18986.hp2 NA19000.hp2 NA19084.hp2 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0010 a0012 a0017 a0023	a0001c0001 a0002c0003 a0002c0005 others(14): Show a0001c0001 a0002c0003 a0002c0005 a0003c0007 a0003c0008 a0003c0026 a0004c0004 a0005c0006 a0005c0015 a0006c0009 a0006c0028 a0009c0013 a0009c0029 a0010c0012 a0012c0019 a0017c0031 a0023c0027	a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 others(15): Show a0001c0001t0001 a0001c0001t0003 a0002c0003t0001 a0002c0005t0001 a0003c0007t0001 a0003c0008t0001 a0003c0026t0001 a0004c0004t0001 a0005c0006t0001 a0005c0015t0001 a0006c0009t0001 a0006c0028t0001 a0009c0013t0001 a0009c0029t0001 a0010c0012t0001 a0012c0019t0001 a0017c0031t0001 a0023c0027t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(63): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0090 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0001g0173 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0003g0120 a0002c0003t0001g0021 a0002c0003t0001g0026 a0002c0003t0001g0051 a0002c0003t0001g0064 a0002c0003t0001g0091 a0002c0003t0001g0093 a0002c0003t0001g0099 a0002c0003t0001g0113 a0002c0003t0001g0148 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0165 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0185 a0002c0005t0001g0014 a0002c0005t0001g0101 a0003c0007t0001g0008 a0003c0007t0001g0018 a0003c0007t0001g0104 a0003c0007t0001g0108 a0003c0008t0001g0095 a0003c0008t0001g0106 a0003c0026t0001g0097 a0004c0004t0001g0040 a0004c0004t0001g0047 a0004c0004t0001g0065 a0004c0004t0001g0088 a0004c0004t0001g0089 a0004c0004t0001g0134 a0004c0004t0001g0144 a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0169 a0004c0004t0001g0177 a0005c0006t0001g0079 a0005c0015t0001g0037 a0005c0015t0001g0153 a0006c0009t0001g0011 a0006c0009t0001g0094 a0006c0009t0001g0121 a0006c0009t0001g0163 a0006c0028t0001g0117 a0009c0013t0001g0164 a0009c0029t0001g0152 a0010c0012t0001g0096 a0010c0012t0001g0166 a0012c0019t0001g0122 a0012c0019t0001g0159 a0017c0031t0001g0110 a0023c0027t0001g0127	66	190	0.3474	235	c.325 others(254): Show c.325+13563_325+13564insAAGAATCGTGTGTACTAAGTGAGGTT TAACCCTTATACTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAA CCCTTAGAGTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCC TTACAGTCCTTTGAGAAGAATCGTGTGTACTAAGTGAGGTTTAACCCTTA TACTCCTTTGAGGAGGATCGTGTGTACTAAGTGAGGTTTAACCCTTAGAG TCCTTTGAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	4/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24190109	T T	TCATTATA others(228): Show TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATTATATAACATATAATGATATATAATATA TATCATTATATAACATATAATGATATATAATATATATCATTATATAACAT ATAATGATATATAATATATATCATTATATAACATATAATGATATATAATA TATATCATTATATAACATATAATGATATATAATATA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0001 a0001c0031t0001	a0001c0031t0001g0133 a0001c0031t0001g0133	1	356	0.0028	235	c.-11 others(256): Show c.-112+29177_-112+29178insCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPIRE2_chr16_89823475_89876319	89852384	C C	CCCATGGC others(228): Show CCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCA TCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCT CCCCCCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCC CCCGGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCC TGGCCCATCTTCCATCCTCCCCCCACCCCCCATATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0339 a0001c0001t0003g0339	1	356	0.0028	235	c.645 others(252): Show c.645+1746_645+1747insTCCCCACCCACCAGATCCCATGGCCCAT CTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTC CCCCCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCC CCGGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCT GGCCCATCTTCCATCCTCCCCCCACCCCCCATATTCCATGGCCCATCTTC CATCCTC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(228): Show AGGGGAGGGGGAGGGGAGGGGAAGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp2 HG02129.hp1 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0018 a0001c0001t0001g0019	2	260	0.0077	235	c.138 others(254): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTC CCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137059138	A A	AACCTCTG others(228): Show AACCTCTGGGGTGGTTCCTCTGTGGAGATAGTAAGAAGTGGTTATGTTTG AAACTATATTTGAAAGTGGAGCCAGTATGATTTGCTGATAAGTTATATGT GGCATGTAAGAGAAAAAGAAGGTTGGTATATTTTTGGGTTTTCGCTTTTT ATTCAGCAAATGGAAGTATAGAGTTGCAGTTAATTAAAATAGCAAACACT GCAGGATGAAGGAGCAGATTTCGGGGAAAGAGCAGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01257.hp1 HG01496.hp1 others(27): Show HG00558.hp2 HG01257.hp1 HG01496.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02257.hp2 HG02723.hp1 HG02976.hp2 HG03017.hp1 HG03491.hp1 HG03579.hp1 HG03834.hp2 HG03942.hp1 HG06807.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18960.hp1 NA18966.hp1 NA18970.hp1 NA18972.hp2 NA18983.hp1 NA18992.hp1 NA18995.hp2 NA19007.hp1 NA19074.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0026 a0001c0001t0031 a0001c0002t0014	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0062 others(27): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0062 a0001c0001t0002g0135 a0001c0001t0002g0145 a0001c0001t0003g0023 a0001c0001t0003g0027 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0055 a0001c0001t0004g0075 a0001c0001t0004g0079 a0001c0001t0005g0103 a0001c0001t0005g0134 a0001c0001t0006g0013 a0001c0001t0007g0048 a0001c0001t0008g0073 a0001c0001t0009g0069 a0001c0001t0009g0089 a0001c0001t0010g0038 a0001c0001t0011g0096 a0001c0001t0011g0107 a0001c0001t0012g0102 a0001c0001t0013g0108 a0001c0001t0013g0109 a0001c0001t0013g0137 a0001c0001t0022g0006 a0001c0001t0026g0085 a0001c0001t0031g0152 a0001c0002t0014g0017	30	152	0.1974	235	c.589 others(252): Show c.589+8576_589+8577insCCTGCTCTTTCCCCGAAATCTGCTCCTT CATCCTGCAGTGTTTGCTATTTTAATTAACTGCAACTCTATACTTCCATT TGCTGAATAAAAAGCGAAAACCCAAAAATATACCAACCTTCTTTTTCTCT TACATGCCACATATAACTTATCAGCAAATCATACTGGCTCCACTTTCAAA TATAGTTTCAAACATAACCACTTCTTACTATCTCCACAGAGGAACCACCC CAGAGGT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	6/10			chr5	TogoVar
SPTSSA_chr14_34427788_34467240	34443506	G G	GGTGTTGT others(228): Show GGTGTTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTTTTGAGATGGAG TTTCCTCTCATTACCCAGCTGGAGTGCAATGGCACAGTCTTAGCTCACTG CAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCTTCTAGGGGAGGGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGCTTTGAG ATGGAGTTTTCCTCTCATTACCCAGCTGGAGGGTGT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03139.hp2 NA18522.hp2 HG03130.hp2 HG03139.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0026 a0001c0001t0009 a0001c0001t0026	a0001c0001t0009g0327 a0001c0001t0009g0328 a0001c0001t0026g0329 a0001c0001t0009g0327 a0001c0001t0009g0328 a0001c0001t0026g0329	3	344	0.0087	235	c.113 others(252): Show c.113-8203_113-8202insACACCCTCCAGCTGGGTAATGAGAGGAA AACTCCATCTCAAAGCACACACAAACACACACACACACACACACACACAC ACACACACACCCTCCCCTAGAAGCAGGAGAATCGCTTGAACCTGGGAGGC AGAGGTTGCAGTGAGCTAAGACTGTGCCATTGCACTCCAGCTGGGTAATG AGAGGAAACTCCATCTCAAAACACACACAAACACACACACACACACACAC ACAACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
STOML3_chr13_38960925_38995831	38988138	A A	ATATAAAA others(228): Show ATATAAAATATATTTTATATCATATATTTTATATAAAATATATATTTTAT ATCATATATTTTATATATAATATATTATATTTTATATCATATATTTTATA TAAAATATATTATATTTTATATCATATACTTTATATATAATATATTATAT TTTATATATAATATATTATATTTTATATCATATATTTTATATAAAATATA TTATATTTTATATCATATATTTTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02451.hp1 HG02922.hp1 others(10): Show HG02135.hp2 HG02451.hp1 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03491.hp2 HG03579.hp1 HG04184.hp1 HG06807.hp2 NA18999.hp2 NA19004.hp2 NA19030.hp1 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0058 others(9): Show a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0253 a0001c0001t0002g0065 a0002c0002t0001g0073	13	396	0.0328	235	c.52+ others(250): Show c.52+2531_52+2532insATATATTATATATAAAATATATGATATAAA ATATAATATATTTTATATAAAATATATGATATAAAATATAATATATTATA TATAAAATATAATATATTATATATAAAGTATATGATATAAAATATAATAT ATTTTATATAAAATATATGATATAAAATATAATATATTATATATAAAATA TATGATATAAAATATATATTTTATATAAAATATATGATATAAAATATATT TTATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
STOML3_chr13_38960925_38995831	38988594	A A	ATATATTT others(228): Show ATATATTTTATATCATATATTTTATATATAATATATTTTATATCATATAT TTTATATATAATATATTTTATATCATATATTTTATATATAATATATTATA TTTTATATCATATATTTTATATATAATATATTATATTTTATATCATATAT TTTATATATAATATATTATATTTTATATCATATATTTTATATATAATATA TTATATTTTATATCATATATTTTATATATAATATAT	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19062.hp2 NA19057.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0059 a0001c0001t0002g0060 a0001c0001t0001g0059 a0001c0001t0002g0060	2	396	0.0051	235	c.52+ others(250): Show c.52+2075_52+2076insATATATTATATATAAAATATATGATATAAA ATATAATATATTATATATAAAATATATGATATAAAATATAATATATTATA TATAAAATATATGATATAAAATATAATATATTATATATAAAATATATGAT ATAAAATATAATATATTATATATAAAATATATGATATAAAATATATTATA TATAAAATATATGATATAAAATATATTATATATAAAATATATGATATAAA ATATA	STOML3	ENSG00000133115.12	transcript	ENST00000379631.9	protein_coding	1/6			chr13	TogoVar
TAF2_chr8_119725774_119837841	119788538	T T	TAAAATAT others(228): Show TAAAATATTACACAACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGA GCCTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18954.hp1 NA18979.hp1 NA18950.hp1 NA18954.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0212 a0001c0001t0001g0236 a0001c0001t0001g0181 a0001c0001t0001g0212 a0001c0001t0001g0236	3	322	0.0093	235	c.168 others(250): Show c.1684-92_1684-91insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACT GCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTTGTGTAAT ATTTT	TAF2	ENSG00000064313.13	transcript	ENST00000378164.7	protein_coding	13/25			chr8	TogoVar
TCF3_chr19_1604292_1657615	1628571	G G	GGGCGGGA others(228): Show GGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGGTGAGGCAGGAAGGGGACAGCAGAGCTCACGGGGT GAGGTGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGAAGGGGAC AGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGG TGGGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0029 a0002c0001t0029	a0002c0001t0029g0156 a0002c0001t0029g0156	1	352	0.0028	235	c.299 others(252): Show c.299-1146_299-1145insTCACCCCGTGAGCTCTGCTGTCCCCTTC CCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGA GCTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGCTCTGCTGTCCCCTT CCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCTGCCTCACCCCCTGT GAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCT TCCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628875	G G	GTGAGGCG others(228): Show GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGA CAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCACGGGGTAAGGCGGGAAGGGGACAGCAGAGCTCACGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGA	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0219 a0001c0002t0002g0219	1	352	0.0028	235	c.299 others(252): Show c.299-1450_299-1449insTCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTTACCCCGTGAGC TCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG CTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCC CGCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TERT_chr5_1248167_1300068	1273056	C C	CACGACCG others(228): Show CACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCAC AGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAG ACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCACCAT CCACAGTCACCACATCAGACCCCACGACCACCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	392	0.0026	235	c.228 others(252): Show c.2287-777_2287-776insTGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGTGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGTGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGG CGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEG_chr19_356747_381026	376902	T T	TGTGCCCC others(228): Show TGTGCCCCACCCAGCCTCTCCCCCGTGTGCCCCACCCAGCCTCTCCCCCC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCCGTGCCCCCACCCAGCCT CTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0238 a0003c0004t0004g0238	1	370	0.0027	235	c.-93 others(244): Show c.-933_-932insGGGGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAG AGGCTGGGTGGGGGCACGGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACA GGGGGGAGAGGCTGGGTGGGGCACACGGGGGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		877		chr19	TogoVar
THEG_chr19_356747_381026	377502	C C	CCCCACCC others(228): Show CCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTG TGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCT CTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0300 a0002c0002t0001g0300	1	370	0.0027	235	c.-15 others(246): Show c.-1533_-1532insCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGG CACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGG G	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1477		chr19	TogoVar
TIMM22_chr17_992129_1008671	993489	A A	ACCTCACA others(228): Show ACCTCACATAATCCACCCTCACATAATCCACCCTCACGTAATCCACCCTC ATGTAATCCACCTCACATAATCCACCCACCCTCACATAATCCACCTCACA TAATCCACCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCA CCCTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCAC ATAATCCACCCTCACATAATCCACCTCATAATCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp2 NA19030.hp2 HG02647.hp1 HG02647.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0029 a0001c0001t0017g0107 a0001c0001t0017g0029 a0001c0001t0017g0107	3	439	0.0068	235	c.-36 others(246): Show c.-3654_-3653insCCTCACATAATCCACCCTCACATAATCCACCCTC ACGTAATCCACCCTCATGTAATCCACCTCACATAATCCACCCACCCTCAC ATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACATAATCC ACCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCACCTCAC ATAATCCACCCTCACATAATCCACCCTCACATAATCCACCTCATAATCCA C	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3639		chr17	TogoVar
TMEM120A_chr7_75981831_75999595	75988801	T T	TGGGGGGG others(228): Show TGGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGG TGGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGG AGGGGGTGTGGAGGGGAAGGCGGGGAGGGGGGTGTGGAGGGGAAGGCCGG GTGGGGGGGTGGAGGGGAAGGCCGGGTGGGGTGGGGGGTGGAGGGGAAGG CCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGTGG	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	368	0.0027	235	c.378 others(250): Show c.378-286_378-285insCCACCACCCGGCCTTCCCCTCCACCCCCCC ACCCGGCCTTCCCCTCCACCCCCCACCCCACCCGGCCTTCCCCTCCACCC CCCCACCCGGCCTTCCCCTCCACACCCCCCTCCCCGCCTTCCCCTCCACA CCCCCTCCCCGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTCCACC CCCCCACCCGGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCCCTCCACC CCCCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM132B_chr12_125181386_125667369	125612926	T T	TTGTATAA others(228): Show TTGTATAAAAATATATATATCATATATATTTATATATTATATAAAAATAT ATATATCATATATATTTATATATTATATAAAAATATATATATCATATATA TTTATATATTATATAAAAATATATATATCATATATATTTATATATTATAT ATTATATATTTATATTTTATTTTTATATTTATATTATATATATTTTTTAT ATTTATATTTATATATCATTATATTTATATATTATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0047 a0001c0004t0047	a0001c0004t0047g0031 a0001c0004t0047g0031	1	128	0.0078	235	c.143 others(256): Show c.1437+28933_1437+28934insGTATAAAAATATATATATCATATA TATTTATATATTATATAAAAATATATATATCATATATATTTATATATTAT ATAAAAATATATATATCATATATATTTATATATTATATAAAAATATATAT ATCATATATATTTATATATTATATATTATATATTTATATTTTATTTTTAT ATTTATATTATATATATTTTTTATATTTATATTTATATATCATTATATTT ATATATTATAT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TRIM46_chr1_155168849_155189970	155189147	C C	CTGGGGGG others(228): Show CTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTG ACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGG GGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCC TGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCC GGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	348	0.0029	235	c.49 others(246): Show c.4957_*4958insTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTG TCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGC CGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGG AGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCG GGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACC G	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4178		chr1	TogoVar
TRIM48_chr11_55257155_55276114	55273453	A A	AAAATTAT others(228): Show AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATATAAATTATATATATATTATATATATATATAAATTATATATAAAT TATATATATATTATATATATATATAAATTATATATATATTATATATATAT ATAAATTATATATATATTATATATATATATAAATTATATATATATTATAT ATATATATAAATTATATATATATTATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0004 a0000c0005t0004	a0000c0005t0004g0028 a0000c0005t0004g0028	1	272	0.0037	235	c.30 others(246): Show c.3018_*3019insAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATATAAATTATATATATATTATATATATATAT AAATTATATATAAATTATATATATATTATATATATATATAAATTATATAT ATATTATATATATATATAAATTATATATATATTATATATATATATAAATT ATATATATATTATATATATATATAAATTATATATATATTATATATATATA T	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2340		chr11	TogoVar
TSPAN9_chr12_3072379_3291559	3198822	C C	CCACCAGC others(228): Show CCACCAGCACAGGCCACCACCAGCACAGGTCACACCAGCACAGCTCACCA CCAGCACAGGTCACACCAGCACAGCTCACCACCAGCACAGGCCACCACCA GCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGCCACCACCAGC ACAGGTCACACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACA GGTCACACCAGCACAGCTCACCACCAGCACAGGTCA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0039 a0001c0004t0039	a0001c0004t0039g0285 a0001c0004t0039g0285	1	288	0.0035	235	c.-17 others(252): Show c.-17-2343_-17-2342insCCACCACCAGCACAGGTCACACCAGCAC AGCTCACCACCAGCACAGGTCACACCAGCACAGCTCACCACCAGCACAGG CCACCACCAGCACAGCTCACCACCAGCACAGGCCACCACCAGCACAGGCC ACCACCAGCACAGGTCACACCAGCACAGCTCACCACCAGCACAGGCCACC ACCAGCACAGGTCACACCAGCACAGCTCACCACCAGCACAGGTCACACCA GCACAGG	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
UBE2U_chr1_64198623_64272368	64201499	T T	TGCCCCGT others(228): Show TGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	330	0.0030	235	c.-25 others(246): Show c.-2552_-2551insGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCCGCCCGGCCAG CCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC C	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2123		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201499	T T	TGCCCCGT others(228): Show TGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCG GGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	330	0.0030	235	c.-25 others(246): Show c.-2552_-2551insGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGCGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGC C	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2123		chr1	TogoVar
UBE2U_chr1_64198623_64272368	64201596	G G	GCGGGAGG others(228): Show GCGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	330	0.0030	235	c.-24 others(246): Show c.-2455_-2454insCGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCC AGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCA GCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG T	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding		2026		chr1	TogoVar
ULK1_chr12_131889622_131928150	131917159	A A	ACGGGGGT others(228): Show ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0088 a0001c0002t0003g0088	1	344	0.0029	235	c.218 others(250): Show c.2182+97_2182+98insCGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGG TCGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(228): Show CGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	344	0.0029	235	c.218 others(252): Show c.2182+106_2182+107insGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTTGGAGG CTGTGGGACGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGG GGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGGTGGG others(228): Show CGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTTGGAGGC TGTGGGATGGGGGTCGGGTTCGGCTTGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGAGGCTGTGGGATGGGGGTCGGGTTCGGCTTGGAGGCTGTGG GACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0079 a0001c0019t0001g0079	1	344	0.0029	235	c.218 others(252): Show c.2182+106_2182+107insGGTGGGGCTCGGAGGCTGTGGGATGGGG GTCGGGTTCGGCTTGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTTGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGAGGCTGTGGGATGGGGGTCGG GTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGG GGCTTGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917211	A A	ACGGGGGT others(228): Show ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0014 a0001c0009t0006g0014	1	344	0.0029	235	c.218 others(252): Show c.2182+149_2182+150insCGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCT CGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGG GGTCGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
WDR87_chr19_37879823_37911594	37881047	A A	ATATATAA others(228): Show ATATATAATATATATATATAATATATATATATATAATATATATATATATT ATATATATATATAATATATATATATATTATATATATATAATATATATATT ATATATATATTATATATATATAATATATATTATATATATATAATATATAT ATAAAATATATATATATTATATATATAATATATATATAATATATATATTA TATATATATAATATATATATATATTATATATATTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	330	0.0030	235	c.38 others(246): Show c.3884_*3885insATAATATATATAATATATATATATATTATATATA TATAATATATATATTATATATATATTATATATATAATATATATATATTTT ATATATATATTATATATATATAATATATATTATATATATATAATATATAT ATAATATATATATTATATATATATAATATATATATATATTATATATATAT ATAATATATATATATATTATATATATATATATTATATATATATATTATAT A	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3775		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATAATAT others(228): Show TATAATATATATTATATATATATAATATATATATAATATATATATTATAT TATATAATATATATATATATATATATATAATATATATATATATTATATAT ATTATATATATATAATATATATATAATATATATATAATATATATATAATA TATATATTATATATATATTATATATATAATATATATATATTTTATATATA TATTATATATATATATATATAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	330	0.0030	235	c.37 others(246): Show c.3793_*3794insCTCTCTCTCTCTCTCTATATATATATATATATAA TATATATATAAAATATATATATATTATATATATAATATATATATAATATA TATATTATATATATATTATATATATATTATATATATATTATATATATATA ATATATATAATATATATATATATTATATATATATATATATATATATTATA TAATATAATATATATATTATATATATATTATATATATATAATATATATTA T	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
XYLT1_chr16_17096769_17475960	17470921	C C	CCGCCGCC others(228): Show CCGCCGCCTCGGCTCGCCGCTGCTCCTCCTCCGCCGCCGCCGCCGCCGCC GCTGCCGCCGCCGCCGCCGCCGCCTCCACCGCCGCGGCGCGGAGTTTTCA GACGGGCAGGGACCCGGACGTCACCAGGAGGAGGAGAAGGCGGGAGGCGG GAGCGGGGAGGCCGCGGAGGGGGGCGCCGGGCGCGCGCTCGGGGACGGGG CGCGCAGGGAGGGGCGGGCGCCTGGCCCGCGCGGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0032 a0001c0004t0032	a0001c0004t0032g0020 a0001c0004t0032g0020	1	156	0.0064	235	c.-12 others(244): Show c.-126_-125insCGCCGCGCGGGCCAGGCGCCCGCCCCTCCCTGCGCG CCCCGTCCCCGAGCGCGCGCCCGGCGCCCCCCTCCGCGGCCTCCCCGCTC CCGCCTCCCGCCTTCTCCTCCTCCTGGTGACGTCCGGGTCCCTGCCCGTC TGAAAACTCCGCGCCGCGGCGGTGGAGGCGGCGGCGGCGGCGGCGGCAGC GGCGGCGGCGGCGGCGGCGGAGGAGGAGCAGCGGCGAGCCGAGGCGGCG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/12	126		chr16	TogoVar
ZNF644_chr1_90910304_91027035	90950307	G G	GAGGGGAG others(228): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	314	0.0032	235	c.45- others(250): Show c.45-8999_45-8998insTTTCTTTTCTTTTCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCT	ZNF644	ENSG00000122482.22	transcript	ENST00000337393.10	protein_coding	2/5			chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288501	C C	CCCTGCTC others(229): Show CCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTGCTCCATTCCCTGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	295	0.0034	236	c.50 others(247): Show c.5062_*5063insCACGGGACGGAGCAGAGACTCGGGGGACGGAGCA GAGACACGGGACGGAGCAGAGACACAGGGAATGGAGCAGACACGGGACGG AGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGG ACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGACGGAGCA GG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3889		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289073	C C	CCGTGTCT others(229): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	295	0.0034	236	c.44 others(247): Show c.4490_*4491insACGGGGCAGGGACACGGGACGGGGCAGAGACACG GGACGGAGCAGAGACACGGGGGACGGGGCAGAGACACGGGACGGAGCAGG GACACGGGACGGAGCAGGGACACGGGACGGGGCAGAGACACGGGACGGAG CAGGGACACGGGACGGGGCAGAGACACGGGACGGAGCAGAGACACGGGAC GGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3317		chr1	TogoVar
ADAMTS3_chr4_72275969_72574221	72456152	A A	ATATATAG others(229): Show ATATATAGTATATATACTGTATATACTATATATATTTTATATATAGTATA TATACTGTATATACTCTATATATTTTATATATATTTTATATATAGTATGT ACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATAGT ATGTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATA TAGTATGTACTCTATATATTTTATATATAGTATGTAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	182	0.0055	236	c.505 others(255): Show c.505-41182_505-41181insGTACATACTATATATAAAATATATAG AGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAATAT ATAGAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAA ATATATAGAGTACATACTATATATAAAATATATATAAAATATATAGAGTA TATACAGTATATATACTATATATAAAATATATATAGTATATACAGTATAT ATACTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADARB2_chr10_1172313_1742525	1558606	T T	TGCATGCT others(229): Show TGCATGCTCCGTCTAAACTCGAATCCCACCTCTGCCCCCCTCCATGGGTG CTCAGCCCCCGCATGCTCCATCTAAACTCGAATCCCACCTCTGCCCCCCT CCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAACTCGAATCCCACCTC TGCCCCCCTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAACTCGAA TCCCACCTCTGCCCCCCTCCATGGGTGCTCAGCCCCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18982.hp1 HG02735.hp2 NA18982.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0002 a0001c0001t0013 a0002c0002t0002	a0001c0001t0013g0007 a0002c0002t0002g0066 a0001c0001t0013g0007 a0002c0002t0002g0066	2	106	0.0189	236	c.100 others(257): Show c.100+178444_100+178445insGGGGGCTGAGCACCCATGGAGGGG GGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGCACCC ATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGC TGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCA TGCGGGGGCTGAGCACCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTA GACGGAGCATGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1558668	A A	ATGCCCCA others(229): Show ATGCCCCATCTAAATCCACATCCCACCTCTGCCCCCCTCCGTGGGTGCTC AGCCCCCACACACCCCATCTAAATCTGCATCCCACCTCTGTCCCCTTCTG TGGGTGCTCAGCCCCCGCATGCTCCATCTAAACTCGAATCCCACCTCTGC CCCCCTCCATGGGTGCTCAGCCCCCGCATGCTCCATCTAAACTCGAATCC CACCTCTGCCCCCCTCCGTGGGTGCTCAGCACCCCCG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	106	0.0094	236	c.100 others(257): Show c.100+178382_100+178383insCGGGGGTGCTGAGCACCCACGGAG GGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGGGGCTGAGCA CCCATGGAGGGGGGCAGAGGTGGGATTCGAGTTTAGATGGAGCATGCGGG GGCTGAGCACCCACAGAAGGGGACAGAGGTGGGATGCAGATTTAGATGGG GTGTGTGGGGGCTGAGCACCCACGGAGGGGGGCAGAGGTGGGATGTGGAT TTAGATGGGGCA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(229): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0038 a0017c0036t0038	a0017c0036t0038g0092 a0017c0036t0038g0092	1	218	0.0046	236	c.32- others(249): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar

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