Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
EXD3_chr9_137301896_137428162	137341685	ACCAGGAG others(141): Show ACCAGGAGCCGTCTCCCAGGAGTCAGAGGAAACGGGGCTCAGGCACCAGG AGCCGTCTCCCAGGAGTCAGAGGAAACGGGGCTCAGGCACCAGGAGCCGT CTCCCAGGGGAGTCAGAGGAAACAGGGCTCAGGCACCAGGAGCCGTCTC	A A	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19007.hp1 NA19066.hp2 NA18951.hp2 NA19007.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0002c0002t0001g0076 a0001c0001t0001g0042 a0001c0001t0001g0044 a0002c0002t0001g0076	3	82	0.0366	-148	c.199 others(19): Show c.1998+6238_1998+6385del	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXOC6B_chr2_72170984_72831033	72401498	TATATATA others(141): Show TATATATATATATATATACATATATACATATATATATATATATATATGTG TATATATATATATATATACATATATATATATATACATATATATATATATA TATATGTGTATATATATATATATACATATATATATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp1 HG01109.hp2 others(14): Show HG00642.hp2 HG00735.hp1 HG01109.hp2 HG01123.hp2 HG02109.hp1 HG02622.hp2 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03486.hp1 HG03486.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0018 a0001c0002t0001 a0001c0002t0003 a0001c0006t0020	a0001c0001t0001g0026 a0001c0001t0002g0030 a0001c0001t0002g0031 others(14): Show a0001c0001t0001g0026 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0056 a0001c0001t0003g0049 a0001c0001t0006g0055 a0001c0001t0007g0042 a0001c0001t0007g0044 a0001c0001t0007g0060 a0001c0001t0012g0052 a0001c0001t0018g0063 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0003g0071 a0001c0006t0020g0069	17	104	0.1635	-148	c.198 others(21): Show c.1981-21776_1981-21629del	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
F13A1_chr6_6139084_6325662	6261580	GCCCTCCA others(141): Show GCCCTCCAGGTGATTCTGATGTGTTCCAAGCGTGGTGACCCTCCAGGTGA TTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTC CAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18747.hp2 HG00423.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0260 a0001c0001t0001g0135 a0001c0001t0001g0260	2	292	0.0069	-148	c.571 others(17): Show c.571+4830_571+4977del	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FASTKD1_chr2_169523508_169578865	169575146	CCCCCACC others(141): Show CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGGCAGGTCGGCTGGCCGGGCGGGGGGCTGACCGC CCCCACCTCCCTCCCGGGCGGGGCGGCTGGCTGGGCGGGGAGCTGACCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	392	0.0026	-148	c.-17 others(11): Show c.-1768_-1621del	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding		1282		chr2	TogoVar
FASTKD1_chr2_169523508_169578865	169575193	CCCCCCCA others(141): Show CCCCCCCACCTCCCTCCCGGGCAGGTCGGCTGGCCGGGCGGGGGGCTGAC CGCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCTGGGCGGGGAGCTGAC CGCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG03710.hp2 HG01978.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0250 a0001c0001t0001g0190 a0001c0001t0001g0250	2	392	0.0051	-148	c.-18 others(11): Show c.-1815_-1668del	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding		1329		chr2	TogoVar
FBXO34_chr14_55266421_55358611	55331679	ATATATGT others(141): Show ATATATGTGTATATATATATATATATGTATATATATATGTATATATATAT GTATATATATATGTGTGTATATATATATATATGTATATATATATATATAT ACCACCATGGTGTATATATAAATATATATATATATACACCACCGGGGTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18946.hp2 NA18966.hp2 others(1): Show HG00438.hp2 NA18946.hp2 NA18966.hp2 NA18992.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0038 a0003c0003t0002g0053 a0003c0003t0002g0054 others(1): Show a0003c0003t0002g0038 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0069	4	334	0.0120	-148	c.-10 others(19): Show c.-10-18696_-10-18549del	FBXO34	ENSG00000178974.11	transcript	ENST00000313833.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr14	TogoVar
FGFRL1_chr4_1006626_1031898	1007606	TCCTCCAG others(141): Show TCCTCCAGCATCTTGAACATATGGAACATGGTCACAGCATAAGCATGTGT GTGCTGTCCTCTACTTGCCCTGTCACCTCCAGCATCTTGAACATATGGAA CATGGTCACAGCATAAGCATGTGTGTGCTGTCCTCTACTTGCCCTGTCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0005 a0001c0004t0018g0005	1	414	0.0024	-148	c.-43 others(11): Show c.-4364_-4217del	FGFRL1	ENSG00000127418.15	transcript	ENST00000510644.6	protein_coding		4019		chr4	TogoVar
FLT4_chr5_180596506_180654600	180639235	GTGGACGG others(141): Show GTGGACGGATGGATGGATGGATGAATGGATGGATGGATGCATGGGTGGGT GGAGGAGTGGATGGGTGGGTGAGTAGAAGGATGGATGGGTGGATGGATGG ACAGACAGATGAATGGATGGATGGACAGGTAGATGAGTGGATGGGTGGA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	388	0.0026	-148	c.59- others(15): Show c.59-7605_59-7458del	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FMN1_chr15_32760544_33199714	32777817	TTTATATA others(141): Show TTTATATATTATGTATAATATATAATACATTAATTATATATTATGTATAA TATATAATACATTATATATTATGTATAATATATAATACATTATATATTAT GTATAATATATAATACATTATATATTATGTATAATATATAATACATTTA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02155.hp2 NA18946.hp2 others(5): Show HG01169.hp1 HG02155.hp2 NA18946.hp2 NA18952.hp2 NA18990.hp2 NA19064.hp2 NA20300.hp1 NA20805.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0007 a0010 a0029	a0001c0001 a0001c0002 a0003c0007 others(4): Show a0001c0001 a0001c0002 a0003c0007 a0005c0005 a0007c0019 a0010c0029 a0029c0043	a0001c0001t0001 a0001c0002t0076 a0003c0007t0001 others(4): Show a0001c0001t0001 a0001c0002t0076 a0003c0007t0001 a0005c0005t0001 a0007c0019t0001 a0010c0029t0001 a0029c0043t0001	a0001c0001t0001g0060 a0001c0001t0001g0196 a0001c0002t0076g0110 others(5): Show a0001c0001t0001g0060 a0001c0001t0001g0196 a0001c0002t0076g0110 a0003c0007t0001g0059 a0005c0005t0001g0085 a0007c0019t0001g0014 a0010c0029t0001g0015 a0029c0043t0001g0168	8	196	0.0408	-148	c.413 others(18): Show c.4131-1046_4131-899del	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
GAL3ST2_chr2_241771822_241809287	241805521	TCCCTCCC others(141): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG03041.hp2 HG02135.hp1 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0046 a0002c0002t0002g0019 a0002c0002t0001g0046 a0002c0002t0002g0019	2	314	0.0064	-148	c.13 others(11): Show c.1356_*1503del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1235		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805542	GACCTCCG others(141): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	314	0.0032	-148	c.13 others(11): Show c.1377_*1524del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1256		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241805655	GACCTCCG others(141): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18971.hp2 NA19068.hp2 NA18952.hp1 NA18971.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0205 a0002c0002t0002g0155 a0001c0001t0001g0001 a0001c0001t0001g0205 a0002c0002t0002g0155	3	314	0.0096	-148	c.14 others(11): Show c.1490_*1637del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1369		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806461	CTCCCCCC others(141): Show CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0015 a0002c0002t0001g0015	1	314	0.0032	-148	c.22 others(11): Show c.2296_*2443del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2175		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806518	GACCTCCG others(141): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02109.hp1 HG00733.hp2 HG02109.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0188 a0004c0004t0001g0126 a0001c0001t0001g0188 a0004c0004t0001g0126	2	314	0.0064	-148	c.23 others(11): Show c.2353_*2500del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2232		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806631	GACCTCCG others(141): Show GACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG04199.hp2 NA19066.hp2 HG02723.hp1 HG04199.hp2 NA19066.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0001 a0002c0002t0002 a0006c0006t0001 a0001c0001t0001 a0002c0002t0002 a0006c0006t0001	a0001c0001t0001g0032 a0002c0002t0002g0157 a0006c0006t0001g0003 a0001c0001t0001g0032 a0002c0002t0002g0157 a0006c0006t0001g0003	3	314	0.0096	-148	c.24 others(11): Show c.2466_*2613del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2345		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806872	CCTTCCCT others(141): Show CCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0054 a0002c0002t0002g0054	1	314	0.0032	-148	c.27 others(11): Show c.2707_*2854del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2586		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241806896	GACCTCCG others(141): Show GACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC CCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 NA19043.hp1 HG02723.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0157 a0002c0002t0002g0019 a0002c0002t0002g0157	2	314	0.0064	-148	c.27 others(11): Show c.2731_*2878del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2610		chr2	TogoVar
GATA5_chr20_62458497_62480995	62467972	ACAGACAC others(141): Show ACAGACACAGCCAGCCTCGGCTTCCCCGTCTGTTACAGCCTGCCTCGGTT TCCCCATCTGTTACAGCCCTCTATGAGCAGACACAGCCAGCCTCGGCTTC CCCGTCTGTTACAGCCCGCCTCGGTTTCCCCATCTGTTACTGCCATGAG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19043.hp1 HG02647.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0003 a0001c0011t0027 a0001c0001t0003 a0001c0011t0027	a0001c0001t0003g0269 a0001c0011t0027g0062 a0001c0001t0003g0269 a0001c0011t0027g0062	2	382	0.0052	-148	c.700 others(17): Show c.700-1569_700-1422del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding	3/6			chr20	TogoVar
GATA5_chr20_62458497_62480995	62476922	TTTCTTTC others(141): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTTTTCTT TCTCGGAGCACACCGGGTGGACCCAGGCTTGGCGGCCATGAAAGTTCTTT TTTCTTTCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	382	0.0026	-148	c.-11 others(11): Show c.-1162_-1015del	GATA5	ENSG00000130700.7	transcript	ENST00000252997.3	protein_coding		928		chr20	TogoVar
GNAL_chr18_11684264_11890685	11769001	AGAATATA others(141): Show AGAATATATATATTCTATATTATAATATATTATATATAATATATAATATA TATAATATATATTATAATATAGATTATATAAATTATATGTAATATATATT ATAATATAGATTATATAAATTATATGTAATATATATTATAATATAGATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0067 a0001c0001t0003g0067	1	248	0.0040	-148	c.624 others(19): Show c.624+15057_624+15204del	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	4/11			chr18	TogoVar
GNAL_chr18_11747085_11890685	11769001	AGAATATA others(141): Show AGAATATATATATTCTATATTATAATATATTATATATAATATATAATATA TATAATATATATTATAATATAGATTATATAAATTATATGTAATATATATT ATAATATAGATTATATAAATTATATGTAATATATATTATAATATAGATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0194 a0001c0001t0003g0194	1	284	0.0035	-148	c.393 others(19): Show c.393+15057_393+15204del	GNAL	ENSG00000141404.17	transcript	ENST00000423027.8	protein_coding	4/11			chr18	TogoVar
GNG7_chr19_2506219_2707694	2584818	GGGACGGA others(141): Show GGGACGGAGGGAGGGAGGGAAGGAAGGAAAGAAGGAAGGAAGGAGGGAGG GAGGGAGGGAGGGATAGAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAAGA AGGAAGGAAGGAAGGAGGGAGGGAGGGAGGGAAGGAAGGAAAGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00733.hp1 others(58): Show HG00408.hp2 HG00423.hp2 HG00733.hp1 HG01081.hp1 HG01243.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02145.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02818.hp1 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp2 HG03688.hp2 HG03834.hp1 HG06807.hp1 NA18906.hp2 NA18952.hp2 NA18963.hp1 NA18963.hp2 NA18999.hp1 NA19000.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19067.hp2 NA19079.hp2 NA19082.hp2 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0051 a0001c0001t0053 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0065 a0001c0001t0067 a0001c0001t0069 a0001c0001t0076 a0001c0001t0079 a0001c0001t0082 a0001c0001t0086	a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0073 others(58): Show a0001c0001t0001g0033 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0001t0001g0122 a0001c0001t0001g0197 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0153 a0001c0001t0002g0181 a0001c0001t0003g0121 a0001c0001t0003g0148 a0001c0001t0003g0182 a0001c0001t0003g0202 a0001c0001t0004g0071 a0001c0001t0004g0094 a0001c0001t0006g0066 a0001c0001t0009g0095 a0001c0001t0010g0123 a0001c0001t0010g0146 a0001c0001t0012g0050 a0001c0001t0013g0041 a0001c0001t0013g0161 a0001c0001t0015g0079 a0001c0001t0017g0025 a0001c0001t0018g0014 a0001c0001t0018g0158 a0001c0001t0020g0160 a0001c0001t0021g0047 a0001c0001t0024g0056 a0001c0001t0025g0008 a0001c0001t0025g0184 a0001c0001t0026g0083 a0001c0001t0032g0001 a0001c0001t0043g0162 a0001c0001t0044g0188 a0001c0001t0045g0004 a0001c0001t0051g0011 a0001c0001t0053g0035 a0001c0001t0057g0171 a0001c0001t0058g0040 a0001c0001t0059g0183 a0001c0001t0061g0135 a0001c0001t0062g0152 a0001c0001t0065g0021 a0001c0001t0067g0140 a0001c0001t0069g0018 a0001c0001t0076g0055 a0001c0001t0079g0125 a0001c0001t0082g0015 a0001c0001t0086g0005	61	206	0.2961	-148	c.-77 others(19): Show c.-77-29778_-77-29631del	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4			chr19	TogoVar
GRTP1_chr13_113319163_113369130	113346200	AGACCCGG others(141): Show AGACCCGGGAGGACCTCTGTGGCTGAGAACAGACCCGGGAGGACCTCTGT GGCCGAGAGCAGATCCGGGAGGACCTCTGTGGCTGAGCGGATCTGGGAGG ACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02451.hp2 HG02572.hp2 HG01934.hp2 HG02451.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0099 a0001c0001t0001g0176 a0001c0001t0003g0266 a0001c0001t0001g0099 a0001c0001t0001g0176 a0001c0001t0003g0266	3	288	0.0104	-148	c.466 others(17): Show c.466-1389_466-1242del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346339	GCCGAGAG others(141): Show GCCGAGAGCGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAG GACCTCTGTGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGA CCCAGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0001 a0002c0014t0001	a0002c0014t0001g0285 a0002c0014t0001g0285	1	288	0.0035	-148	c.466 others(17): Show c.466-1528_466-1381del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346347	CGGACCCA others(141): Show CGGACCCAGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTG TGGCTGAGCAGACCTGGGAAGACATCTGTGGCCGAGAACAGACCCAGGAG GACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03491.hp1 HG01167.hp1 HG03491.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0009 a0001c0001 a0011c0009	a0001c0001t0001 a0011c0009t0001 a0001c0001t0001 a0011c0009t0001	a0001c0001t0001g0262 a0011c0009t0001g0247 a0001c0001t0001g0262 a0011c0009t0001g0247	2	288	0.0069	-148	c.466 others(17): Show c.466-1536_466-1389del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346579	CGAGAACA others(141): Show CGAGAACAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGAGGA CCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCGGATC TGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACCTCTGTGGCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	288	0.0035	-148	c.466 others(17): Show c.466-1768_466-1621del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346789	AGAGCAGA others(141): Show AGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACC TCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACC CGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	288	0.0035	-148	c.466 others(17): Show c.466-1978_466-1831del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113346794	AGACCCGG others(141): Show AGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGT GGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTGACAGTGGACCCGGGA GGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTCTGTGGCTGAGCG	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	288	0.0035	-148	c.466 others(17): Show c.466-1983_466-1836del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347539	TCCGGGAG others(141): Show TCCGGGAGGACCTCTGTGGCAGAGAGCAGACCCAGGAGGACCTCTGTGGC TGAGAACAGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGA CCTCTGTGGCTGAGCAGATCTGGGAGGACCTCTGTGGCAGAGAGCAGAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	288	0.0035	-148	c.466 others(17): Show c.466-2728_466-2581del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GRTP1_chr13_113319163_113369130	113347797	TGAGCGGA others(141): Show TGAGCGGATCTGGGAGGACCTCTGTGGCAGAGAGCAGACCCGGGAGGACC TCTGTGGCCAAGAACAGATCCGGGAGGACCTCTGAAGCCGAGAGCAGACC CGGGAGGACCTCTGTGGCCAAGAACGGACCTGGGAGGACCTCTGAGGCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	288	0.0035	-148	c.465 others(17): Show c.465+2904_466-2839del	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
HEATR6_chr17_60036008_60083921	60042366	TGGCTGTG others(141): Show TGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCA CTGTCAGCATCCTCGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCT CGCGTCCTGTGCGGCTGTGAGGCACTGTCAGCATCCTCGCGTCCTGTGC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp2 HG01981.hp2 HG03041.hp1 others(1): Show HG01243.hp2 HG01981.hp2 HG03041.hp1 NA18522.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0026 a0001c0001t0044 a0003c0003t0081 a0001c0001t0026 a0001c0001t0044 a0003c0003t0081	a0001c0001t0026g0166 a0001c0001t0026g0187 a0001c0001t0044g0145 others(1): Show a0001c0001t0026g0166 a0001c0001t0026g0187 a0001c0001t0044g0145 a0003c0003t0081g0177	4	250	0.0160	-148	c.10 others(11): Show c.1049_*1196del	HEATR6	ENSG00000068097.16	transcript	ENST00000184956.11	protein_coding	20/20	1049		chr17	TogoVar
HIVEP2_chr6_142746469_142950176	142862393	CATATTTT others(141): Show CATATTTTATAATACATATAATCGATTACATGTATCATATATTTTATAAT ACATATAATCGATTATATGTATCATATATTTTATAATACATATAATCGAT TATATGTATCATATATTTTATAATACATATAATCGATTATGTGTATCAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	288	0.0035	-148	c.-64 others(21): Show c.-640-25494_-640-25347del	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	1/9			chr6	TogoVar
HSD17B14_chr19_48808018_48841491	48834509	TGAGGAAG others(141): Show TGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGG GCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01106.hp2 HG01109.hp1 others(4): Show HG00438.hp2 HG01106.hp2 HG01109.hp1 HG01884.hp1 HG02280.hp2 HG03209.hp2 NA19087.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0001 a0002c0002t0001 a0006c0009t0001 a0001c0001t0001 a0002c0002t0001 a0006c0009t0001	a0001c0001t0001g0252 a0002c0002t0001g0289 a0002c0002t0001g0325 others(4): Show a0001c0001t0001g0252 a0002c0002t0001g0289 a0002c0002t0001g0325 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0347 a0006c0009t0001g0256	7	394	0.0178	-148	c.128 others(15): Show c.128-299_128-152del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834630	AGGGCTGG others(141): Show AGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0383 a0001c0001t0001g0383	1	394	0.0025	-148	c.128 others(15): Show c.128-420_128-273del	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
IDUA_chr4_982044_1009564	1007606	TCCTCCAG others(141): Show TCCTCCAGCATCTTGAACATATGGAACATGGTCACAGCATAAGCATGTGT GTGCTGTCCTCTACTTGCCCTGTCACCTCCAGCATCTTGAACATATGGAA CATGGTCACAGCATAAGCATGTGTGTGCTGTCCTCTACTTGCCCTGTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0299 a0002c0007t0001g0299	1	426	0.0024	-148	c.32 others(11): Show c.3214_*3361del	IDUA	ENSG00000127415.13	transcript	ENST00000514224.2	protein_coding		3043		chr4	TogoVar
IGLON5_chr19_51306644_51335891	51310557	GCCTGGAC others(141): Show GCCTGGACTCCAGGGTCTGAGGGAGGAGGGACTGGGGACCTGGACTCCTG GGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTAGGTCTGAGGGAGG AGGAACTGGGGACCTGGACTCCTGGGCCTGAGGGAGGAGGGGCTGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18974.hp1 NA19000.hp2 NA18952.hp1 NA18974.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0078 a0001c0001t0004 a0001c0001t0078	a0001c0001t0004g0027 a0001c0001t0004g0080 a0001c0001t0078g0078 a0001c0001t0004g0027 a0001c0001t0004g0080 a0001c0001t0078g0078	3	418	0.0072	-148	c.-12 others(11): Show c.-1290_-1143del	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding		1086		chr19	TogoVar
INPP5A_chr10_132532787_132788480	132569921	GGATTACA others(141): Show GGATTACAGGTGTGAGCCACCGCACTGGGCCCCCACTGTTTTTTTTAAAT TGCATTTTTAGTAGAGATGGGGTTTCACCATATTGGCCAGGCTGGTCTCG AACTCCTGACCTCAGGTGATCCACTCACCTCAGTCTCCCAAAGTGCTGA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01952.hp1 HG02015.hp2 others(4): Show HG01109.hp2 HG01952.hp1 HG02015.hp2 HG04199.hp2 NA18945.hp2 NA18971.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0010g0047 a0001c0001t0010g0048	7	204	0.0343	-148	c.75+ others(17): Show c.75+31760_75+31907del	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IQCG_chr3_197884077_197964991	197887504	CAGCAGAG others(141): Show CAGCAGAGCCCTTCCCATCACTGAACAGTGTTGGCGGCTGAGAGCCCCCC AGCAGAGCCCTTCCCATCACTGACAGTGTTGGGGGCTGAGAGCCCCCCTA GCAGAGCCCTTCCCATCACTGACAGTGTCTGGGGCTGAGAGCCCCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	280	0.0036	-148	c.19 others(11): Show c.1928_*2075del	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding		1572		chr3	TogoVar
KCNJ11_chr11_17380248_17393659	17389214	CCCTCCCG others(141): Show CCCTCCCGCCGCCCGGGCGCTCGCGGCTGGCCGTCCTCCCGTCTGTCTGT CCGTCCGTGGGTCCGCGGAGACCGACCTGGGCTAGGCAGGGGTCTAGGAC GGCGGGAGGGGGGCGCACGAGGAGAGGAACGGGGCCGGGGACCGCCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	422	0.0024	-148	c.-12 others(11): Show c.-1271_-1124del	KCNJ11	ENSG00000187486.7	transcript	ENST00000339994.5	protein_coding		556		chr11	TogoVar
KIF25_chr6_167992671_168050091	167997239	TCGGGGGA others(141): Show TCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGG GTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01070.hp2 HG01099.hp2 others(21): Show HG00733.hp1 HG01070.hp2 HG01099.hp2 HG01123.hp2 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG02109.hp2 HG02486.hp1 HG02559.hp1 HG03225.hp2 HG03490.hp2 HG03492.hp2 HG03942.hp2 HG04199.hp1 NA18747.hp1 NA18968.hp1 NA18990.hp2 NA19009.hp1 NA19066.hp2 NA19085.hp2 NA20129.hp1 NA20752.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0005	a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 others(5): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0031 a0001c0003t0004 a0001c0003t0011 a0002c0002t0011 a0004c0005t0004	a0001c0001t0007g0033 a0001c0001t0007g0106 a0001c0001t0007g0107 others(20): Show a0001c0001t0007g0033 a0001c0001t0007g0106 a0001c0001t0007g0107 a0001c0001t0007g0108 a0001c0001t0007g0110 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0114 a0001c0001t0007g0116 a0001c0001t0007g0118 a0001c0001t0007g0120 a0001c0001t0007g0324 a0001c0001t0009g0109 a0001c0001t0009g0128 a0001c0001t0011g0126 a0001c0001t0011g0127 a0001c0001t0031g0119 a0001c0003t0004g0016 a0001c0003t0004g0129 a0001c0003t0011g0041 a0002c0002t0011g0124 a0002c0002t0011g0125 a0004c0005t0004g0001	24	375	0.0640	-148	c.-22 others(11): Show c.-2229_-2082del	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		431		chr6	TogoVar
KIF26A_chr14_104133587_104185894	104165341	CTGTATCA others(141): Show CTGTATCATGTGTGCGTCTGTGTGTCCCTGTGTGCATGTGTCTCTGTGTC TGTATGCATATGTGTTCTGTGTGTCTCTGTATGCGTGTGTGTCTGTCTCT GTGTGTGTTTCTGTATGCGTGTGTGTGTGGGCCTCTGTGTATGTTTCCA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 HG03195.hp2 others(1): Show HG02615.hp2 HG02809.hp1 HG03195.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0040 a0001c0085 others(1): Show a0001c0002 a0001c0040 a0001c0085 a0003c0012	a0001c0002t0003 a0001c0040t0003 a0001c0085t0016 others(1): Show a0001c0002t0003 a0001c0040t0003 a0001c0085t0016 a0003c0012t0001	a0001c0002t0003g0134 a0001c0040t0003g0038 a0001c0085t0016g0016 others(1): Show a0001c0002t0003g0134 a0001c0040t0003g0038 a0001c0085t0016g0016 a0003c0012t0001g0236	4	374	0.0107	-148	c.924 others(17): Show c.924-1514_924-1367del	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
KIF3C_chr2_25921598_25987497	25962785	TATAATAT others(141): Show TATAATATATATTATATAATATATAATATATATAATATATAAAATATATA AAATATATAATATATAATATAATATATAATATATATAATATATAAAATAT ATATAATATAAAATATATATAATATATAATATATATAATATATAATACA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01109.hp2 others(11): Show HG00741.hp2 HG01081.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02055.hp2 HG02300.hp1 HG02735.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 others(3): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0023 a0001c0002t0025	a0001c0002t0001g0173 a0001c0002t0001g0209 a0001c0002t0001g0210 others(11): Show a0001c0002t0001g0173 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0219 a0001c0002t0005g0214 a0001c0002t0005g0227 a0001c0002t0006g0166 a0001c0002t0006g0217 a0001c0002t0006g0220 a0001c0002t0008g0211 a0001c0002t0023g0212 a0001c0002t0025g0216	14	240	0.0583	-148	c.154 others(19): Show c.1546-6489_1546-6342del	KIF3C	ENSG00000084731.15	transcript	ENST00000264712.8	protein_coding	1/7			chr2	TogoVar
KLHDC4_chr16_87702812_87770986	87704356	AGGGAAGG others(141): Show AGGGAAGGAGGCGCCTGGGGAGGGTCCTGAACATGACAGGGAAGGAGGCG CCTGGGGAGGGTCCTGAACGTCACGGGGAAGGAGGCGCCTGGGGAGGGTC CTGAACATGACAGGGAAGGAGGCGCCTGGGGAGGGTCCTGAACGTCACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0249 a0002c0002t0001g0249	1	380	0.0026	-148	c.35 others(11): Show c.3573_*3720del	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding		3455		chr16	TogoVar
KNDC1_chr10_133155219_133231412	133155658	AACTGTGG others(141): Show AACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCCACTGTGGGGTAT TGACGTCGTTGGAAAGAGAACCTCCACTGTGGGGTATTGACGTCGTTGGA AAGAGAACCTCCACTGTGGGGTATTGACGTCGTTGGAAAGAGAACCTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0010 a0003c0032t0010	a0003c0032t0010g0308 a0003c0032t0010g0308	1	332	0.0030	-148	c.-48 others(11): Show c.-4809_-4662del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding		4560		chr10	TogoVar
LDHAL6A_chr11_18450856_18484601	18467901	ATATATAT others(141): Show ATATATATATATATATATACACACACATATATATATACACACACATATAT ATATACGTATATATATACGTATATATATACGTATATATATGCATATATAT ACGTATATATATACATATATATACGTATATATATATACATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp1 HG01257.hp2 others(11): Show HG01106.hp2 HG01168.hp1 HG01257.hp2 HG01258.hp2 HG02080.hp2 HG02132.hp1 HG02602.hp2 HG03654.hp2 HG03710.hp2 NA18941.hp2 NA18975.hp1 NA19001.hp2 NA19012.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0020 a0002c0003t0012	a0001c0001t0001g0155 a0001c0001t0002g0019 a0001c0001t0002g0133 others(11): Show a0001c0001t0001g0155 a0001c0001t0002g0019 a0001c0001t0002g0133 a0001c0001t0002g0138 a0001c0001t0002g0140 a0001c0001t0002g0148 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0210 a0001c0001t0002g0364 a0001c0001t0009g0019 a0001c0001t0020g0275 a0002c0003t0012g0351 a0002c0003t0012g0359	14	420	0.0333	-148	c.418 others(17): Show c.418+2104_418+2251del	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
LHPP_chr10_124456823_124619141	124507381	GGGATAGG others(141): Show GGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGG AGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGA	G G	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	260	0.0039	-148	c.624 others(17): Show c.624+9256_624+9403del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124507536	GGAGGATT others(141): Show GGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGG GAGTATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGA CAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	260	0.0039	-148	c.624 others(17): Show c.624+9409_625-9496del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
LIPG_chr18_49557057_49604185	49577676	ACGGCTGG others(141): Show ACGGCTGGCCAGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGATGGCA CGGCTGGCCGGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02572.hp2 others(9): Show HG02055.hp2 HG02109.hp1 HG02572.hp2 HG02630.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp2 NA18906.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0017 a0001c0001t0078 a0001c0001t0079 others(2): Show a0001c0001t0017 a0001c0001t0078 a0001c0001t0079 a0003c0004t0016 a0003c0004t0080	a0001c0001t0017g0285 a0001c0001t0017g0287 a0001c0001t0017g0288 others(9): Show a0001c0001t0017g0285 a0001c0001t0017g0287 a0001c0001t0017g0288 a0001c0001t0017g0290 a0001c0001t0078g0286 a0001c0001t0079g0289 a0003c0004t0016g0145 a0003c0004t0016g0146 a0003c0004t0016g0148 a0003c0004t0016g0166 a0003c0004t0016g0167 a0003c0004t0080g0147	12	384	0.0313	-148	c.793 others(17): Show c.793+2096_793+2243del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	961152	CAGACTCA others(141): Show CAGACTCACGGTGACAGCACGGGATCACGACCCAGACACAGACTCACGGT GACAGCACGGGATCACGACCCAGACACAGACTCACGGTGACAGCACGGGA TCACGACCCAGACACAGACTCACGGTGACAGCACGGGATCACGACCCAG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG01261.hp1 others(5): Show HG00621.hp1 HG00642.hp1 HG01261.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0018 a0001c0001 a0001c0013 a0001c0018	a0001c0001t0001 a0001c0013t0001 a0001c0018t0001 a0001c0001t0001 a0001c0013t0001 a0001c0018t0001	a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 others(5): Show a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0013t0001g0220 a0001c0018t0001g0125	8	294	0.0272	-148	c.194 others(17): Show c.194-6634_194-6487del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LRRC1_chr6_53790005_53929125	53861718	GGCCCTGC others(141): Show GGCCCTGCACCCTCCTCTCACCTTCTCTGTGTGTTACCCAGAGAAGGTTT TTTGGGTCTGAATGACTCATTCAGCCTGTGGCTGAGTCTCTAATTGACAA ACACTATAGTTCGGGCGTGTGAGAGGAGAACACATAGTAGGATGTCTGT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0013 a0001c0011t0013	a0001c0011t0013g0106 a0001c0011t0013g0106	1	370	0.0027	-148	c.278 others(19): Show c.278-17274_278-17127del	LRRC1	ENSG00000137269.15	transcript	ENST00000370888.6	protein_coding	2/13			chr6	TogoVar

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