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
LRBA_chr4_150259435_151020284	150420419	GTATATAT others(186): Show GTATATATAAAGTATATATAATACATATATAATATATAAAGTATATATAA TACACATTATAATATATATAAAGTATATATAATACACATTATAATATATA TAAAGTATATATAATACACATTATAATATATATAAAGTATATATAATACA CATTATAATATATATAAAGTATATATAATACACATTATAATATA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03831.hp1 NA18970.hp1 others(1): Show HG03130.hp1 HG03831.hp1 NA18970.hp1 NA19007.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0027 a0001c0001 a0019c0027	a0001c0001t0001 a0001c0001t0002 a0019c0027t0001 a0001c0001t0001 a0001c0001t0002 a0019c0027t0001	a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0002g0022 others(1): Show a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0002g0022 a0019c0027t0001g0103	4	130	0.0308	-193	c.704 others(19): Show c.7042-5022_7042-4830del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	46/56			chr4	TogoVar
LRMDA_chr10_75426624_76565168	75479995	CGAGTGTA others(186): Show CGAGTGTATTCAAGGGACACAAACATGTACTGGGTAGTCACTGGGAAACA GCAGTGAAAAAGCAGGCAGCATCTCTGTCCTCATAAAGCTTGTATTTTAG TGAGGAGAGTTGGCCAAGTAAGGTGGCCTTGGGAGCTGAAGAGTGTTTCA GGCAGAGGGAACACAACAGACGATGTCCAGATCTCAGGCAGAAT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0028 a0003c0004t0003g0028	1	46	0.0217	-193	c.131 others(19): Show c.131+41694_131+41886del	LRMDA	ENSG00000148655.16	transcript	ENST00000611255.5	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
NCOR1_chr17_16024157_16220534	16145408	AGTGAGGA others(186): Show AGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGGGATGTGGGGAGTG CCTCGGCCCCACCGCCCCGTCTGGGATGTGAGGAGCGCCTCTGCCCGGCC ACGACCCCGTCTGGGAACTGAGGAGCGTCTCTGCCCCGCCGCCACCCTGT CTGGGAGGTGATGAGCGTCTCTGCCCGGCTGCCCAGTCTGAGAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01256.hp1 HG02698.hp2 HG00280.hp2 HG01256.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0001g0098 a0001c0001t0001g0038 a0001c0001t0001g0060 a0001c0001t0001g0098	3	280	0.0107	-193	c.108 others(17): Show c.1082+775_1082+967del	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	10/45			chr17	TogoVar
NHLRC4_chr16_562005_574495	571315	CTGGCAAC others(186): Show CTGGCAACCATGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTCTGGCTA GCCTGGGACCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGTTAGCCTGTGTGTGTGTGTGTGTGTTTGTGTCTGGC TAGCCTGTGTGTGTCTGGTTAGCCTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG01981.hp1 others(6): Show HG01168.hp2 HG01169.hp1 HG01981.hp1 HG02280.hp1 HG02630.hp1 HG03098.hp1 HG03139.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0001g0001 a0001c0001t0004g0001	9	422	0.0213	-193	c.28 others(11): Show c.2897_*3089del	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1821		chr16	TogoVar
NOL10_chr2_10565754_10694975	10587066	TACATATA others(186): Show TACATATATATACATATATATACATATATATACACATATATATACATATA TATACATATATATACATATATACACATATATATACATATATACACATATA TACACATATATATACACATATATATACACATATATATACACATATATATA TACATATATATACATATATATATACATACATATATATATATACA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19004.hp1 NA18979.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0331 a0001c0001t0001g0304 a0001c0001t0001g0331	2	308	0.0065	-193	c.184 others(19): Show c.1844+1784_1844+1976del	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10587067	ACATATAT others(186): Show ACATATATATACATATATATACATATATATACACATATATATACATATAT ATACATATATATACATATATACACATATATATACATATATACACATATAT ACACATATATATACACATATATATACACATATATATACACATATATATAT ACATATATATACATATATATATACATACATATATATATATACAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01123.hp2 HG01346.hp1 others(6): Show HG00280.hp2 HG01123.hp2 HG01346.hp1 HG02148.hp1 HG02738.hp1 HG03942.hp2 HG04115.hp2 NA18522.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0091 a0001c0001t0001g0296 a0001c0001t0001g0310 others(6): Show a0001c0001t0001g0091 a0001c0001t0001g0296 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0326 a0001c0001t0001g0335 a0001c0001t0016g0297	9	365	0.0247	-193	c.184 others(19): Show c.1844+1783_1844+1975del	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NOL10_chr2_10565754_10694975	10587070	TATATATA others(186): Show TATATATACATATATATACATATATATACACATATATATACATATATATA CATATATATACATATATACACATATATATACATATATACACATATATACA CATATATATACACATATATATACACATATATATACACATATATATATACA TATATATACATATATATATACATACATATATATATATACACATA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03017.hp1 HG02071.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0336 a0001c0001t0001g0308 a0001c0001t0001g0336	2	367	0.0054	-193	c.184 others(19): Show c.1844+1780_1844+1972del	NOL10	ENSG00000115761.17	transcript	ENST00000381685.10	protein_coding	19/20			chr2	TogoVar
NXN_chr17_794310_984776	952577	GAGACCAA others(186): Show GAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGTGGGGGGGGCTGGAGTCAGAC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	142	0.0070	-193	c.360 others(19): Show c.360+26549_360+26741del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PCYT1A_chr3_196229368_196292726	196271995	TTTTTTTT others(186): Show TTTTTTTTTTTTTGAGAAAGAGTCTCACTCTGTCACCCTGGCTAGAGTGC AGTGGCACGATCTCGGCTCTCACAGCCATAATCATAGCACACTGTAGCCT CAAACTCCTGAGCTTAAGCAATCCTCCCATCTGAGCCTCCAGAATAGCTA GGACCAGCATAATGTATTTTTTAAATGTCCTTCTCCTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03471.hp2 HG04184.hp2 others(2): Show HG02055.hp2 HG03471.hp2 HG04184.hp2 NA19030.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0043 a0001c0001t0053 others(1): Show a0001c0001t0001 a0001c0001t0043 a0001c0001t0053 a0001c0001t0056	a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0043g0291 others(2): Show a0001c0001t0001g0070 a0001c0001t0001g0084 a0001c0001t0043g0291 a0001c0001t0053g0281 a0001c0001t0056g0282	5	308	0.0162	-193	c.-10 others(17): Show c.-10-1647_-10-1455del	PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	1/8			chr3	TogoVar
PIGQ_chr16_564968_589109	571315	CTGGCAAC others(186): Show CTGGCAACCATGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGTCTGGCTA GCCTGGGACCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTCTGGCTAGC CTGTGTGTGTCTGGTTAGCCTGTGTGTGTGTGTGTGTGTTTGTGTCTGGC TAGCCTGTGTGTGTCTGGTTAGCCTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01981.hp1 others(6): Show HG01168.hp1 HG01169.hp1 HG01981.hp1 HG02280.hp1 HG02630.hp2 HG03098.hp2 HG03139.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0004 a0002c0001 a0009c0023 a0001c0004 a0002c0001 a0009c0023	a0001c0004t0004 a0001c0004t0006 a0001c0004t0014 others(2): Show a0001c0004t0004 a0001c0004t0006 a0001c0004t0014 a0002c0001t0001 a0009c0023t0004	a0001c0004t0004g0319 a0001c0004t0004g0321 a0001c0004t0004g0322 others(6): Show a0001c0004t0004g0319 a0001c0004t0004g0321 a0001c0004t0004g0322 a0001c0004t0006g0233 a0001c0004t0006g0235 a0001c0004t0014g0318 a0002c0001t0001g0315 a0002c0001t0001g0320 a0009c0023t0004g0047	9	406	0.0222	-193	c.-10 others(17): Show c.-10+1222_-10+1414del	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PKP3_chr11_389209_409908	402057	CACCCCCG others(186): Show CACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCAC CCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGC TCACCCCGACCCCGCTCACCCCAGACCCCCGGCCCCGCTCACCCCCGGCT CCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCG	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA19054.hp2 HG01261.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0001g0070 a0001c0001t0001g0078	2	214	0.0093	-193	c.173 others(18): Show c.1738-1011_1738-819del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLXNC1_chr12_94143577_94312675	94217156	GCGGACAC others(186): Show GCGGACACTGTAAGGTCCTCATCTAACTTGGCTGTTAGCCAGCATTCTTG AAACTGTCTTTTCCATTGCTTTCCATGGCACGCCCACTCCATGCTCTCCT CCTTCTCTGTGGCCAGGCCTCAATTCCCTTGCTGGGCCTTGCTGGTCCCT TCCCTCCCTGTCTCTAAATATTGGAGCCATTTAAGGCCCAGTTT	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0133 a0001c0010t0002g0133	1	296	0.0034	-193	c.155 others(19): Show c.1555-2859_1555-2667del	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	5/30			chr12	TogoVar
PRDM15_chr21_41793225_41884344	41806099	CCACCATC others(186): Show CCACCATCACCACCACCACCACCACCATCACCACCACCATCACCACCACC ACCACCATCACCATCACCACCACCATCACCACCACCACCATCACCACCAC CACCATCACCATCACCATCACCATCACCACCATCACTACCACCATCACCA CCACCACCATCACCACCACCCATCACCACCACCACCATCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01975.hp2 HG02004.hp2 others(6): Show HG01943.hp1 HG01975.hp2 HG02004.hp2 HG02145.hp1 HG02165.hp1 HG02293.hp1 HG02300.hp2 HG02683.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0028 a0001c0002 a0001c0028	a0001c0002t0002 a0001c0002t0039 a0001c0028t0041 a0001c0002t0002 a0001c0002t0039 a0001c0028t0041	a0001c0002t0002g0008 a0001c0002t0002g0144 a0001c0002t0002g0151 others(5): Show a0001c0002t0002g0008 a0001c0002t0002g0144 a0001c0002t0002g0151 a0001c0002t0002g0309 a0001c0002t0002g0313 a0001c0002t0002g0341 a0001c0002t0039g0347 a0001c0028t0041g0362	9	392	0.0230	-193	c.265 others(19): Show c.2653-1678_2653-1486del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3287519	GCATCCAG others(186): Show GCATCCAGGATTGCATTTACCGGGGCTGGAGCCGCCCCCTGCCACGCGGG CATCCAGGATTGCATTTACCGGGGCTGGAGCTGCCCCTGCCATGCGGGCA TCGAGGATTGCATTTACCGGGGCTGGAGCCGCCCCCTGCCACGTGGGCAT CCAGGATTGCATTTACCGGGGCTGGAACCGCCCCGCCACGCGGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03486.hp2 HG03453.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0004 a0002c0007t0001 a0001c0004t0004 a0002c0007t0001	a0001c0004t0004g0051 a0002c0007t0001g0001 a0001c0004t0004g0051 a0002c0007t0001g0001	2	207	0.0097	-193	c.438 others(19): Show c.438+43414_438+43606del	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PXDN_chr2_1626887_1749515	1703272	GCAACTCC others(186): Show GCAACTCCAGGTGAAGGTAGGGGACAACTCCAGGTGAAGGGGGGCAACTC CAGGTGAAGGGAGGGCAACTCCAGGTGAAGGGGGGGACAGCTCCAGGTGA AGTGGGGGACAGCTCCAGGTGAAGGAGGGACAACTCCAGGTGAAGGAGGG ACAACTCCAGGTGAAGCGGGGGACAACTCCCGGTGAAGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02273.hp1 HG02280.hp2 others(8): Show HG01928.hp2 HG02273.hp1 HG02280.hp2 HG02602.hp1 HG02615.hp2 HG02809.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG04115.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0022 a0001c0032 others(4): Show a0001c0001 a0001c0022 a0001c0032 a0002c0009 a0003c0018 a0004c0036 a0006c0025	a0001c0001t0001 a0001c0001t0019 a0001c0022t0014 others(5): Show a0001c0001t0001 a0001c0001t0019 a0001c0022t0014 a0001c0032t0028 a0002c0009t0011 a0003c0018t0005 a0004c0036t0003 a0006c0025t0020	a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0168 others(8): Show a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0243 a0001c0001t0019g0242 a0001c0022t0014g0047 a0001c0032t0028g0046 a0002c0009t0011g0301 a0003c0018t0005g0048 a0004c0036t0003g0036 a0006c0025t0020g0172	11	320	0.0344	-193	c.201 others(19): Show c.201-10331_201-10139del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
S100A5_chr1_153532147_153545934	153535365	CAGCAGAG others(186): Show CAGCAGAGGGCCTAGTCAGTGCCATGGGAGCAAGGACTTCTCACCCACAC ACCCCAATAATGCTGCCTGCACTAGCCCCGCCTCCTTTGGAACCACCCAG TCTCAGGCCACACACAATGGCATCAGGAGACAGCCCAGGGCTTGAAGGGG AAGGAGAGAGCACACTAGGGCCAAGGCAAGAGAGGTGGCTTAAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	-193	c.17 others(11): Show c.1738_*1930del	S100A5	ENSG00000196420.8	transcript	ENST00000368717.3	protein_coding		1781		chr1	TogoVar
S100A6_chr1_153529599_153540991	153535365	CAGCAGAG others(186): Show CAGCAGAGGGCCTAGTCAGTGCCATGGGAGCAAGGACTTCTCACCCACAC ACCCCAATAATGCTGCCTGCACTAGCCCCGCCTCCTTTGGAACCACCCAG TCTCAGGCCACACACAATGGCATCAGGAGACAGCCCAGGGCTTGAAGGGG AAGGAGAGAGCACACTAGGGCCAAGGCAAGAGAGGTGGCTTAAG	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	378	0.0026	-193	c.-21 others(13): Show c.-21-198_-21-6del	S100A6	ENSG00000197956.10	transcript	ENST00000368719.9	protein_coding	1/2			chr1	TogoVar
SDHA_chr5_213320_262082	261833	CTCCCGTC others(186): Show CTCCCGTCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCAGAGCATTAC CGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCC CGTCACAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTG TGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 NA18612.hp1 NA18940.hp2 others(4): Show HG00621.hp1 NA18612.hp1 NA18940.hp2 NA18966.hp2 NA18972.hp2 NA19003.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0156 others(2): Show a0001c0002t0001g0014 a0001c0002t0001g0030 a0001c0002t0001g0156 a0001c0002t0001g0168 a0001c0002t0001g0169	7	156	0.0449	-193	c.54 others(11): Show c.5414_*5606del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4752		chr5	TogoVar
SIGIRR_chr11_400716_419999	402057	CACCCCCG others(186): Show CACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCAC CCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGC TCACCCCGACCCCGCTCACCCCAGACCCCCGGCCCCGCTCACCCCCGGCT CCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0050 a0007c0010t0001g0050	1	240	0.0042	-193	c.36 others(11): Show c.3646_*3838del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3658		chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63113028	AAAAAAAA others(186): Show AAAAAAAAATATATATATATATATATACATATATATATATACATATATAT ACACATATATATACATATATATATACATATATATACACATATATATATAC ATATATATATACACATATATATATACATATATATATACACATATATATAC ATATATATATACACATATATATATACATATATATACACATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02683.hp2 HG01433.hp2 HG02683.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0341 a0006c0010t0001g0343 a0006c0010t0001g0341 a0006c0010t0001g0343	2	364	0.0055	-193	c.830 others(17): Show c.830+5691_830+5883del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63113030	AAAAAAAT others(186): Show AAAAAAATATATATATATATATATACATATATATATATACATATATATAC ACATATATATACATATATATATACATATATATACACATATATATATACAT ATATATATACACATATATATATACATATATATATACACATATATATACAT ATATATATACACATATATATATACATATATATACACATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0342 a0006c0010t0001g0342	1	362	0.0028	-193	c.830 others(17): Show c.830+5689_830+5881del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC22A24_chr11_63074940_63149221	63113034	AAATATAT others(186): Show AAATATATATATATATATATACATATATATATATACATATATATACACAT ATATATACATATATATATACATATATATACACATATATATATACATATAT ATATACACATATATATATACATATATATATACACATATATATACATATAT ATATACACATATATATATACATATATATACACATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	302	0.0033	-193	c.830 others(17): Show c.830+5685_830+5877del	SLC22A24	ENSG00000197658.9	transcript	ENST00000612278.4	protein_coding	4/9			chr11	TogoVar
SLC66A2_chr18_79897420_79956653	79919815	ACGGGAAC others(186): Show ACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGA GTGAGAGGTCAGGGTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAA GGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACAGGAACCGAGGGAGAGGTCAGGGTCAGTGGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03239.hp1 HG02683.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0042 a0001c0001t0003 a0001c0001t0042	a0001c0001t0003g0300 a0001c0001t0042g0269 a0001c0001t0003g0300 a0001c0001t0042g0269	2	329	0.0061	-193	c.392 others(15): Show c.392-608_392-416del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79921152	CAGGAACC others(186): Show CAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACGGGAACCGAG GGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGTCAGTGAGGAG AGACAGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACA	C C	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19011.hp2 NA19009.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0100 a0001c0001t0018g0099 a0001c0001t0001g0100 a0001c0001t0018g0099	2	274	0.0073	-193	c.392 others(17): Show c.392-1945_392-1753del	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SNTG2_chr2_945849_1372613	965169	ACCCCAAT others(186): Show ACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTC CTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCC CAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTC CTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03927.hp1 HG03654.hp1 HG03927.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0004 a0002c0003 a0004c0004	a0002c0003t0001 a0004c0004t0001 a0002c0003t0001 a0004c0004t0001	a0002c0003t0001g0064 a0004c0004t0001g0065 a0002c0003t0001g0064 a0004c0004t0001g0065	2	184	0.0109	-193	c.72+ others(17): Show c.72+14137_72+14329del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPPL3_chr12_120757510_120909358	120852339	TATATACA others(186): Show TATATACATATTTTACATATATGAAATATATGTATATATAATATACATAT TTTACATATATGAAATATATGCATATATAATATACATATTTTACATATGA AATATATGTATATATAATATACATATTTTACATATATGAAATATATGCAT ATATAATATACATATTTTACATATATGAAATATATGCATATATA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00673.hp2 others(64): Show HG00280.hp2 HG00408.hp2 HG00673.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp2 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02165.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02818.hp2 HG02886.hp2 HG03017.hp1 HG03486.hp1 HG03704.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18945.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18959.hp1 NA18963.hp2 NA18968.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA19000.hp2 NA19001.hp2 NA19063.hp2 NA19064.hp2 NA19067.hp2 NA19080.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0028	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(64): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0008g0066 a0001c0001t0008g0067 a0001c0001t0008g0069 a0001c0001t0008g0070 a0001c0001t0008g0113 a0001c0001t0008g0114 a0001c0001t0008g0115 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0118 a0001c0001t0008g0119 a0001c0001t0008g0120 a0001c0001t0011g0027 a0001c0001t0011g0034 a0001c0001t0011g0047 a0001c0001t0011g0052 a0001c0001t0011g0053 a0001c0001t0011g0141 a0001c0001t0011g0144 a0001c0001t0013g0030 a0001c0001t0013g0031 a0001c0001t0013g0035 a0001c0001t0013g0049 a0001c0001t0015g0023 a0001c0001t0015g0024 a0001c0001t0015g0058 a0001c0001t0022g0042 a0001c0001t0028g0063	67	300	0.2233	-193	c.24- others(17): Show c.24-41646_24-41454del	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120852371	TATATATA others(186): Show TATATATAATATACATATTTTACATATATGAAATATATGCATATATAATA TACATATTTTACATATGAAATATATGTATATATAATATACATATTTTACA TATATGAAATATATGCATATATAATATACATATTTTACATATATGAAATA TATGCATATATAATATACATATTTTACATATATGAAATATATGC	T T	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02922.hp2 HG03579.hp2 HG01943.hp1 HG02922.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0129 a0001c0001t0012g0130 a0001c0001t0012g0131 a0001c0001t0012g0129 a0001c0001t0012g0130 a0001c0001t0012g0131	3	218	0.0138	-193	c.24- others(17): Show c.24-41678_24-41486del	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
TBC1D32_chr6_121074494_121339480	121091679	ACAATAGC others(186): Show ACAATAGCAATGACACAGAGATTATAAATACTGGAAACATTTTGATACAT CAATGTTATGGGTAAAGTTGAGCCCCACTCAAAAGATATGTCAAAGCCCT AACCCCCAGAACCTCATAATACAACTTTATTCGAAAATAGGGTCTTTACA GACGTAATCAGGTTAAAATGAGGTCATTACGGTGAGCCCTAATC	A A	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	290	0.0034	-193	c.346 others(17): Show c.3466-831_3466-639del	TBC1D32	ENSG00000146350.14	transcript	ENST00000398212.7	protein_coding	30/31			chr6	TogoVar
TP73_chr1_3647516_3741201	3675092	TCCCACAA others(186): Show TCCCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTGTCTCCTC CCACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTGTCTCCTCCC ACAATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTGTCTCCTCCCAC AATGGCCCAGGTGTCTCCTCCCACAATGGCCCAGGTGTCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	356	0.0028	-193	c.-33 others(17): Show c.-33-7238_-33-7046del	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPPP_chr5_654862_698352	667881	CAGAGAGG others(186): Show CAGAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACA GAGAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTGCGGACAAGCACACAGA GAGGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACAGAGA GGGGGCCGTGTGGGCGCCGTCAGGGAAGTACCGACAAGCACACT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00735.hp1 others(38): Show HG00140.hp2 HG00639.hp1 HG00735.hp1 HG01123.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp2 HG01981.hp2 HG02040.hp1 HG02257.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03834.hp1 HG04228.hp1 NA18969.hp2 NA18970.hp2 NA18974.hp1 NA18982.hp2 NA19005.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0001c0014 a0002c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0024 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0090 a0001c0003t0005 a0001c0003t0018 a0001c0003t0019 a0001c0003t0027 a0001c0003t0038 a0001c0009t0024 a0001c0014t0019 a0002c0007t0007	a0001c0001t0002g0017 a0001c0001t0002g0251 a0001c0001t0004g0187 others(31): Show a0001c0001t0002g0017 a0001c0001t0002g0251 a0001c0001t0004g0187 a0001c0001t0007g0046 a0001c0001t0007g0053 a0001c0001t0007g0060 a0001c0001t0007g0062 a0001c0001t0007g0063 a0001c0001t0007g0257 a0001c0001t0024g0061 a0001c0001t0024g0065 a0001c0001t0076g0066 a0001c0001t0077g0271 a0001c0001t0078g0064 a0001c0001t0090g0367 a0001c0003t0005g0004 a0001c0003t0005g0009 a0001c0003t0005g0034 a0001c0003t0005g0036 a0001c0003t0005g0037 a0001c0003t0005g0038 a0001c0003t0005g0039 a0001c0003t0005g0040 a0001c0003t0005g0041 a0001c0003t0005g0042 a0001c0003t0005g0043 a0001c0003t0005g0044 a0001c0003t0018g0003 a0001c0003t0019g0303 a0001c0003t0027g0008 a0001c0003t0038g0150 a0001c0009t0024g0049 a0001c0014t0019g0095 a0002c0007t0007g0182	41	406	0.1010	-193	c.312 others(17): Show c.312-1951_312-1759del	TPPP	ENSG00000171368.12	transcript	ENST00000360578.7	protein_coding	2/3			chr5	TogoVar
TRIML1_chr4_188134441_188152743	188151353	CTGAGAAG others(186): Show CTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAATGAGAGTGGGGGT GAGAGGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTTG AGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGAGGGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02922.hp1 HG02886.hp2 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0011 a0001c0004 a0002c0011	a0001c0004t0001 a0002c0011t0002 a0001c0004t0001 a0002c0011t0002	a0001c0004t0001g0085 a0002c0011t0002g0121 a0001c0004t0001g0085 a0002c0011t0002g0121	2	172	0.0116	-193	c.39 others(11): Show c.3982_*4174del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3611		chr4	TogoVar
TRPM4_chr19_49152792_49216836	49167473	CTCTGGGT others(186): Show CTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCTCTCTCTCTGG GTCTTTGTCCCCGTCTCTCTGGGTCTCTGTCCCCGTCTCTCTGGGTCTCT GTCCCTCTCTCTCTGGGTCTCTGTCCCATCTCTCTGGGTCTCTGTCCCAT GTCTCTGGGTCTCTGTCCCTCTCTCTCTGGGTCTCTGTCCCATG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02258.hp2 others(3): Show HG01243.hp1 HG02109.hp1 HG02258.hp2 HG02965.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0013 others(2): Show a0001c0001 a0001c0003 a0001c0013 a0001c0021 a0002c0033	a0001c0001t0001 a0001c0003t0001 a0001c0013t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0013t0001 a0001c0021t0002 a0002c0033t0001	a0001c0001t0001g0009 a0001c0003t0001g0306 a0001c0003t0001g0308 others(3): Show a0001c0001t0001g0009 a0001c0003t0001g0306 a0001c0003t0001g0308 a0001c0013t0001g0307 a0001c0021t0002g0061 a0002c0033t0001g0123	6	310	0.0194	-193	c.268 others(15): Show c.268-440_268-248del	TRPM4	ENSG00000130529.16	transcript	ENST00000252826.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr19	TogoVar
XG_chrX_2747040_2821500	2773644	AGCGAAGG others(186): Show AGCGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGCGAAGGAAGGAAGGAGCGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0309 a0001c0001t0013g0309	1	320	0.0031	-193	c.104 others(16): Show c.104-1071_104-879del	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10			chrX	TogoVar
ZNF160_chr19_53061614_53108422	53079662	AAAAAAAA others(186): Show AAAAAAAAAAAAAAGGGACTGCATCCAACCGAAAAACTTTTGTGCATCAA CAGATGCTACCAAGAGTAAAACAGTATGCCTGTGACAAGTCCTAGCCAGA GCAATCAGGCGAGAGAAACAGAAGGCATTCAAACAGAAAGAGGGCTGCAT GCAGTAGTTTGCACCTGTAATCACATCACTGTGGGAGGCCAAGG	A A	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	404	0.0025	-193	c.16- others(15): Show c.16-4672_16-4480del	ZNF160	ENSG00000170949.18	transcript	ENST00000683776.1	protein_coding	3/5			chr19	TogoVar
ABCC5_chr3_183914934_184022884	183956594	AGATCCGT others(185): Show AGATCCGTGTGTATATCACATCTGTTACATGCAGATCCGTGTGTAAATCA CATCGGTTACATGCAGATCCGTGTGTATATCATATAGGTTACATGCAGAT CCGTGTGTATATCATATAGGTTACATGCAGATCCGTGTGTAAATCACATC GGTTACATGCGGATCCGTGTGTACATCACATCGGTTACATGCG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp2 HG01169.hp2 others(27): Show HG00639.hp1 HG01167.hp2 HG01169.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0002 a0001c0004t0004 a0001c0003t0002 a0001c0004t0002 a0001c0004t0004	a0001c0003t0002g0030 a0001c0004t0002g0072 a0001c0004t0002g0306 others(27): Show a0001c0003t0002g0030 a0001c0004t0002g0072 a0001c0004t0002g0306 a0001c0004t0004g0114 a0001c0004t0004g0117 a0001c0004t0004g0118 a0001c0004t0004g0119 a0001c0004t0004g0120 a0001c0004t0004g0121 a0001c0004t0004g0122 a0001c0004t0004g0123 a0001c0004t0004g0124 a0001c0004t0004g0125 a0001c0004t0004g0126 a0001c0004t0004g0127 a0001c0004t0004g0128 a0001c0004t0004g0129 a0001c0004t0004g0130 a0001c0004t0004g0131 a0001c0004t0004g0132 a0001c0004t0004g0134 a0001c0004t0004g0135 a0001c0004t0004g0136 a0001c0004t0004g0137 a0001c0004t0004g0138 a0001c0004t0004g0139 a0001c0004t0004g0140 a0001c0004t0004g0257 a0001c0004t0004g0262 a0001c0004t0004g0292	30	376	0.0798	-192	c.248 others(19): Show c.2482+2947_2482+3138del	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29			chr3	TogoVar
ABCC5_chr3_183914934_184022884	183957331	GGTCCGTG others(185): Show GGTCCGTGTGTACATCACATCGGTTACATGCGGGTCCGTGTGTATATCAC ATCGGTTACATGCTTATCCGTGTGTATATCACATCGGTTACATGCAGATC CATGTGTATATCACATCTGTTACATGCGGATCCGTGTGTATATGACATCA GTTACATGCGGATCCGTGTGTAAATCACATCGGTTACATGCTT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00621.hp2 others(60): Show HG00423.hp2 HG00544.hp1 HG00621.hp2 HG00735.hp2 HG01074.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp2 HG02280.hp1 HG02293.hp2 HG02735.hp2 HG02738.hp1 HG03942.hp2 HG04115.hp1 NA18939.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp2 NA18954.hp2 NA18962.hp2 NA18967.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0013 a0001c0023 others(2): Show a0001c0002 a0001c0013 a0001c0023 a0003c0011 a0004c0012	a0001c0002t0001 a0001c0013t0003 a0001c0023t0001 others(2): Show a0001c0002t0001 a0001c0013t0003 a0001c0023t0001 a0003c0011t0001 a0004c0012t0001	a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 others(56): Show a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0052 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0152 a0001c0002t0001g0258 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0013t0003g0092 a0001c0023t0001g0142 a0003c0011t0001g0078 a0004c0012t0001g0101	63	307	0.2052	-192	c.248 others(19): Show c.2482+2210_2482+2401del	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	17/29			chr3	TogoVar
ACOT11_chr1_54543228_54615329	54579051	ATGTTTGA others(185): Show ATGTTTGATAGGACATTGGGACCATCGTTTGTCTTCTAGAATGAAGATAT GATCTGATATTGTATGACAATCAGAAGCCTGAGGAACAGCCTCCTGGTAT CCTTCCTCCCAGCCCTGGGGCTAGCTTTGAGGACGTATGCTCCCTATTTT ACCCATGAGTTTGCTGCCCACCACTACTACCCTTTTTTTTTCT	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	386	0.0026	-192	c.34- others(15): Show c.34-5600_34-5409del	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADARB2_chr10_1172313_1742525	1237063	TGCCTCCG others(185): Show TGCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTG CCTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCC TCCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTC CGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTG	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0046 a0002c0002t0046	a0002c0002t0046g0056 a0002c0002t0046g0056	1	106	0.0094	-192	c.136 others(19): Show c.1362-3410_1362-3219del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237064	GCCTCCGG others(185): Show GCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCCCCTGC CTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCT CCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTCCCTCC GGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19011.hp2 HG04184.hp1 NA19011.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0004 a0001c0001t0009 a0002c0002t0004	a0001c0001t0009g0054 a0002c0002t0004g0088 a0001c0001t0009g0054 a0002c0002t0004g0088	2	91	0.0220	-192	c.136 others(19): Show c.1362-3411_1362-3220del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237469	TCTGCCTC others(185): Show TCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTC TGCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTG CCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCATCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0030 a0001c0001t0017g0030	1	90	0.0111	-192	c.136 others(19): Show c.1362-3816_1362-3625del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237520	GCCTCCCG others(185): Show GCCTCCCGGTGTTCACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTGC CTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCATCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCC CGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTC	G G	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0084 a0002c0002t0004g0084	1	80	0.0125	-192	c.136 others(19): Show c.1362-3867_1362-3676del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1239532	GCCTCCCG others(185): Show GCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCC CGGTGCTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTC	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	75	0.0133	-192	c.136 others(19): Show c.1361+2408_1361+2599del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGGF1_chr5_77025404_77070234	77042480	CGGGCGGG others(185): Show CGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCCACCTCCCTCCCGGACGTGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCATCCCGGACGGGGCGGCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02738.hp1 HG02818.hp1 others(3): Show HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG03486.hp2 HG03688.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0030 a0001c0004t0007g0208 a0001c0004t0007g0209 others(2): Show a0001c0004t0007g0030 a0001c0004t0007g0208 a0001c0004t0007g0209 a0001c0004t0007g0210 a0001c0004t0007g0211	6	433	0.0139	-192	c.870 others(17): Show c.870+2766_870+2957del	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	398010	CCCTGACC others(185): Show CCCTGACCATCCACGTAGCTCCTGACCATCCATGTTAGCCCCTGACCATC CACGTAGCTCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCTCCT GACCATCCACGTAGCTCCTGACCGTCCATGTTAGCCCCTGACCATCCACG TAGCCCCTGACCATCCACGTAGCTCCTGACCATCCACGTAGCT	C C	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0069 a0001c0001t0005g0069	1	262	0.0038	-192	c.352 others(19): Show c.352-15245_352-15054del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANAPC10_chr4_144989576_145103196	145038821	CAAAAAAA others(185): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGCTAACTAAGGCAAAACCTA TAAGAAGCAGGCAACAAATTCAACAGATACTTCTGATGACGAGACATCAC TTTCTACAGAGAAAAATAGGTCACATGCAAAGCATCAGAAATCAAAAGTG GCATTGTATTTCTCAACATTTACAATAAAAACAATGTCTCAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG02486.hp1 others(19): Show HG01074.hp1 HG01884.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02896.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp1 NA18522.hp1 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0003g0330	22	88	0.2500	-192	c.327 others(19): Show c.327+25559_327+25750del	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANO1_chr11_70073317_70194530	70194332	ATGGATGG others(185): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGG TGAATGAATGGATGTGTGGATGGATGGATGGATTGGGTGAATGAATGGAT GTGTGGATGGATGGATGGATGGATGGTGGATGAATGGATGGATGGTAGAT GAATGGATGGATGGATGGATGAATGGATGGATGGATGGATGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	278	0.0036	-192	c.63 others(11): Show c.6329_*6520del	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding		4803		chr11	TogoVar
ARHGAP39_chr8_144524179_144690846	144612244	ACCAGCCA others(185): Show ACCAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTC CAGCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACTCCA GCCAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACACCAGC CAGGGCGACAGAGTGAGGTGAGCCACGGCTGCGCCGCTGCACT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp2 HG02622.hp1 others(6): Show HG02280.hp1 HG02451.hp2 HG02622.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03579.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0004c0013	a0001c0001t0001 a0001c0001t0007 a0001c0004t0006 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0004t0006 a0001c0007t0001 a0004c0013t0002	a0001c0001t0001g0237 a0001c0001t0007g0017 a0001c0004t0006g0064 others(6): Show a0001c0001t0001g0237 a0001c0001t0007g0017 a0001c0004t0006g0064 a0001c0004t0006g0065 a0001c0004t0006g0068 a0001c0004t0006g0069 a0001c0004t0006g0070 a0001c0007t0001g0016 a0004c0013t0002g0194	9	231	0.0390	-192	c.-81 others(17): Show c.-81-6741_-81-6550del	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGEF10_chr8_1818926_1963641	1840265	TCTGTCCG others(185): Show TCTGTCCGGTGTGGGGACTGTCCTGTGTGGAAGCTGTCTGGTGTGGGGAC TGTCTGGTGTGGAAGCTGTCCGATATGGGGACTGTCTGGTGTGGAAGCTG TCCGATATGGGGACTGTCTGGTGTGGAAGCTGTCTGGTGTGGGGACTGTC TGGTGTGGAAGCTGTCCGGTGTGGGGACTGTCCGGTGTGGAAG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01358.hp1 HG02897.hp2 others(2): Show HG01255.hp2 HG01358.hp1 HG02897.hp2 NA18941.hp1 NA19010.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0012 others(2): Show a0001c0002 a0001c0003 a0001c0012 a0001c0132 a0004c0038	a0001c0002t0020 a0001c0003t0020 a0001c0012t0001 others(2): Show a0001c0002t0020 a0001c0003t0020 a0001c0012t0001 a0001c0132t0020 a0004c0038t0001	a0001c0002t0020g0264 a0001c0003t0020g0084 a0001c0012t0001g0277 others(2): Show a0001c0002t0020g0264 a0001c0003t0020g0084 a0001c0012t0001g0277 a0001c0132t0020g0085 a0004c0038t0001g0027	5	326	0.0153	-192	c.-47 others(17): Show c.-47-3073_-47-2882del	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP10A_chr15_25673712_25868327	25758533	ACTCATTC others(185): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGACCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCG ACCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0104 a0010c0017t0001g0104	1	281	0.0036	-192	c.654 others(19): Show c.654+22294_655-22393del	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79145972	AAGCTGCA others(185): Show AAGCTGCATGTCAGGGGAGCTGCCGGTGTGGAGAGTGACTGAAGGTGCAA GCTGCATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCGGGC TGCATGTCGGGGGAGCTGGCAGTGTGCAGAGTGACTGAAGGTGCGGGCTG CATGTCGGGGGAGCTGGCGGTGTGCAGAGTGACTGAAGGTGCG	A A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0267 a0001c0006t0003g0267	1	294	0.0034	-192	c.726 others(17): Show c.726+2113_726+2304del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	6/29			chr18	TogoVar

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