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
PCBP3_chr21_45638725_45947450	45886193	CGTGGTGA others(94): Show CGTGGTGAGGTGTGGAGGCCTCATTGCTGCGGGTGCCAAGGGCAGAGGAT GTGGTGAGGTGTGGAGGAGGCCTCATTGCCGCGGGTGCCAAGGGCAGAGG AT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	127	0.0079	-101	c.11- others(15): Show c.11-9997_11-9897del	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	774659	GACTCACC others(94): Show GACTCACCACGAAGGTCTGCAGCTTCACTCCTGAGCCATCGAGACCACGG ACCCAGTGGGAAGAATGAACAACTCCAGACGCGCCACCTTAAGAGCCGTA AC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0280 a0001c0001t0034g0280	1	362	0.0028	-101	c.85 others(11): Show c.8581_*8681del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding		4571		chr4	TogoVar
PGBD5_chr1_230309490_230431332	230381991	CCTTCCTC others(94): Show CCTTCCTCTGGATTCTCAAAGACTTTACATCTTTCTCATGCAAAGTTTTA ACTTTCTACTGTGGACTACTGTTGGACGTTAGTACTGTAAGCTTTAGTCC TG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02630.hp2 others(7): Show HG01891.hp1 HG02145.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp2 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0011 a0001c0002t0036 others(2): Show a0001c0001t0006 a0001c0001t0011 a0001c0002t0036 a0001c0002t0078 a0001c0002t0090	a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0013 others(7): Show a0001c0001t0006g0011 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0011g0024 a0001c0001t0011g0035 a0001c0002t0036g0036 a0001c0002t0036g0177 a0001c0002t0078g0041 a0001c0002t0090g0195	10	286	0.0350	-101	c.332 others(19): Show c.332-24771_332-24671del	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6			chr1	TogoVar
PLCXD1_chrX_276381_308356	280459	AGGCCGTG others(94): Show AGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCA GGGGGCAGCGGAGGCCGTGCAGGGGGAGGGGAGGCCGTGCAGGGGGAAGG GG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG03130.hp1 others(1): Show HG02886.hp1 HG03098.hp1 HG03130.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0021 a0001c0003t0101 a0001c0010t0041 a0001c0001t0021 a0001c0003t0101 a0001c0010t0041	a0001c0001t0021g0107 a0001c0001t0021g0108 a0001c0003t0101g0109 others(1): Show a0001c0001t0021g0107 a0001c0001t0021g0108 a0001c0003t0101g0109 a0001c0010t0041g0167	4	174	0.0230	-101	c.-12 others(11): Show c.-1246_-1146del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		921		chrX	TogoVar
PLD1_chr3_171595404_171815483	171779797	ATAAGTCT others(94): Show ATAAGTCTGAGATTCAGGACTGAGATTTGGATACATAAGTCTGAGATTAG GACTGGAGTTTGGATACATAAGTCTAACATTCAGGACTGGGGTTTGTATA CG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0091 a0002c0003t0004g0091	1	292	0.0034	-101	c.-32 others(19): Show c.-32+30501_-32+30601del	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
POLR2K_chr8_100145636_100159003	100154715	AATTTATT others(94): Show AATTTATTACATGCTATATGAAATACTTCCATGCTCAGATTTTTGTTTTG TTTTGTTTTTTTAAGACCGGGTCTCCCTCTGTTGTCCAGACTGGAGTGCA GT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	428	0.0023	-101	c.14 others(11): Show c.1400_*1500del	POLR2K	ENSG00000147669.11	transcript	ENST00000353107.8	protein_coding		713		chr8	TogoVar
PPP2R2C_chr4_6315581_6477614	6396834	ATACTCAA others(94): Show ATACTCAAGCCAGGGCTGATTTCCATGCTACCCACAGTTTAACAACTGGC TCAAAACATTCCTAAAAATGTAACTATTGACTCCCGCGCACTGATGCGAG CC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03041.hp2 HG02258.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0058 a0001c0002t0008g0236 a0001c0002t0003g0058 a0001c0002t0008g0236	2	296	0.0068	-101	c.71- others(17): Show c.71-15841_71-15741del	PPP2R2C	ENSG00000074211.14	transcript	ENST00000382599.9	protein_coding	1/8			chr4	TogoVar
PRDM15_chr21_41793225_41884344	41855972	TCCTTTCC others(94): Show TCCTTTCCTTCCCTCCCTCCCTCCCCTCCCTTCCTTCCTTTCCTTCCCTC CCTCCCTCCCCTCCCTTCCTTCCTTTCCTTCCTTCCCTCCCTCCCCTCCC TC	T T	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0387 a0001c0001t0004g0387	1	404	0.0025	-101	c.285 others(17): Show c.285+1103_286-1155del	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	4/23			chr21	TogoVar
PRKCZ_chr1_2045411_2190395	2106770	ACCTCCAC others(94): Show ACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCTGG TGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGCGACTCTTCAGCAAG CC	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	283	0.0035	-101	c.335 others(19): Show c.335-28459_335-28359del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122416	CACGGTGG others(94): Show CACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGT GGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCA CG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0021 a0001c0003t0002g0021	1	281	0.0036	-101	c.335 others(19): Show c.335-12845_335-12745del	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PTP4A3_chr8_141387021_141437454	141429666	AGTCCCCG others(94): Show AGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01975.hp2 HG02145.hp1 others(7): Show HG01891.hp2 HG01975.hp2 HG02145.hp1 HG02451.hp2 HG02486.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 others(2): Show a0001c0001t0008 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027	a0001c0001t0008g0021 a0001c0001t0008g0027 a0001c0001t0008g0029 others(7): Show a0001c0001t0008g0021 a0001c0001t0008g0027 a0001c0001t0008g0029 a0001c0001t0008g0034 a0001c0001t0008g0035 a0001c0001t0008g0064 a0001c0001t0023g0028 a0001c0001t0024g0018 a0001c0001t0025g0294 a0001c0001t0027g0030	10	11	0.9091	-101	c.405 others(17): Show c.405-1259_405-1159del	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PXDN_chr2_1626887_1749515	1679743	CGTGTATG others(94): Show CGTGTATGTGCGTGTGTGTGGTTTGTATCTGCATGTGTGTGTCTATAAAT GGTGTGTGTAAATGGTGTGTGTGTAAATGGTGTGTGTGTGGATGGTGTGT GT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0208 a0001c0001t0010g0208	1	320	0.0031	-101	c.730 others(15): Show c.730+349_730+449del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	7/22			chr2	TogoVar
PYROXD2_chr10_98378568_98420182	98387588	ATGCAGCT others(94): Show ATGCAGCTTTTTTCACCTCTTCACTTTTCTCAAGCTGTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGC AG	A A	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19064.hp2 NA18947.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	2	416	0.0048	-101	c.144 others(17): Show c.1448-382_1448-282del	PYROXD2	ENSG00000119943.13	transcript	ENST00000370575.5	protein_coding	13/15			chr10	TogoVar
RAB40C_chr16_585066_634268	612247	AGGGACAG others(94): Show AGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTG GCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGA GC	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp2 HG02970.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0021 a0001c0001t0013g0033 a0001c0001t0013g0021 a0001c0001t0013g0033	2	316	0.0063	-101	c.143 others(17): Show c.143-4960_143-4860del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5			chr16	TogoVar
RABGAP1L_chr1_174154520_175000308	174350091	ACCCCCCC others(94): Show ACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGTGGGGGGGCTG ACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC CC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG03098.hp2 HG02109.hp1 HG02630.hp1 HG03098.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0074 a0002c0003t0006g0075 a0002c0003t0006g0083 a0002c0003t0006g0074 a0002c0003t0006g0075 a0002c0003t0006g0083	3	270	0.0111	-101	c.146 others(21): Show c.1466-20863_1466-20763del	RABGAP1L	ENSG00000152061.24	transcript	ENST00000681986.1	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
RERE_chr1_8347404_8822640	8644989	GCTTTAAC others(94): Show GCTTTAACCAGTTCTCACAGGCCCATACCATTTTACAAACCAGCTGTGTG ACTTTGGCCTCCATGTCTTTGTTTCCTCATCTGTACAGCAGGGAAACAAT GT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0107 a0001c0004t0010g0107	1	202	0.0050	-101	c.325 others(19): Show c.325+10883_325+10983del	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	2/22			chr1	TogoVar
RGS12_chr4_3288021_3444913	3375651	CCCTCATC others(94): Show CCCTCATCTCCAGCCCTCATCTCCAGCCCTCATCTCCAGCCTCATCTCCA GCCCTCATCTCCAGCCTCATCTCCAGCCCTCATCTCCAGCCCTCATCTCC AG	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	308	0.0032	-101	c.199 others(21): Show c.1999-10750_1999-10650del	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS3_chr9_113458727_113602738	113601914	GGCAGAAT others(94): Show GGCAGAATTTTTCTAAGGAAGTCCGAGGAATAGGTGAGTTTATGAATGTG CGGATGTCCGGTCCTGCAAGGAATCTCAGTTCTCAGAACTGTGTGACAAG TT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01070.hp1 HG01168.hp1 others(1): Show HG00738.hp2 HG01070.hp1 HG01168.hp1 HG03834.hp1	a0001 a0006 a0001 a0006	a0001c0007 a0006c0017 a0001c0007 a0006c0017	a0001c0007t0001 a0006c0017t0001 a0001c0007t0001 a0006c0017t0001	a0001c0007t0001g0081 a0001c0007t0001g0114 a0001c0007t0001g0115 others(1): Show a0001c0007t0001g0081 a0001c0007t0001g0114 a0001c0007t0001g0115 a0006c0017t0001g0083	4	166	0.0241	-101	c.49 others(11): Show c.4962_*5062del	RGS3	ENSG00000138835.24	transcript	ENST00000695401.1	protein_coding		4177		chr9	TogoVar
RIMS2_chr8_103495610_104259430	104255192	TTTTTCCT others(94): Show TTTTTCCTTTATCCCATATATACCCCCTACTCTAGTGAATTGTTTCTTTG TTGTTCATTCCTGTTCTTTGTTGTTCATATACATTCCTGTATATGAACAA CA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG02015.hp1 HG02109.hp1 others(17): Show HG01928.hp1 HG02015.hp1 HG02109.hp1 HG02155.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp2 HG02622.hp1 HG02965.hp1 HG03225.hp2 HG03471.hp1 HG03492.hp1 HG03579.hp2 HG03942.hp1 NA18939.hp1 NA18990.hp1 NA19030.hp2 NA19090.hp2 NA19091.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 others(4): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0003t0009 a0002c0002t0004 a0002c0002t0017	a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0016 others(17): Show a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0016 a0001c0001t0004g0036 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0049 a0001c0001t0004g0052 a0001c0001t0004g0059 a0001c0001t0004g0090 a0001c0001t0004g0140 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0011g0050 a0001c0001t0014g0157 a0001c0001t0015g0022 a0001c0003t0009g0095 a0002c0002t0004g0076 a0002c0002t0017g0063	20	170	0.1176	-101	c.33 others(11): Show c.3373_*3473del	RIMS2	ENSG00000176406.25	transcript	ENST00000696799.1	protein_coding		763		chr8	TogoVar
RTEL1_chr20_63653312_63701245	63690644	AGGATGCC others(94): Show AGGATGCCCCCCGAGGCTGAGACTCCCCCCAATAGCAGGGAGGACACCCA CAGGCAGGACCCCAAGTGCTGGGACTCTCCCCCAAGAGGGGCTTTGCCAC AG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	58	0.0172	-101	c.241 others(16): Show c.2414-159_2414-59del	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	26/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RXRA_chr9_134321455_134445585	134428394	AGGCTGCT others(94): Show AGGCTGCTGTTACCTAACCACCCGCCCCAGGGAACCCCCACTATGTTGAG GGGCTGCTGTTACCTAACCACCCACCCCCCAGGGAACCCCCCGATGTTGA GG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG02647.hp2 others(6): Show HG02257.hp2 HG02615.hp2 HG02647.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG03453.hp1 HG03516.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0016 a0001c0001t0044 others(1): Show a0001c0001t0009 a0001c0001t0016 a0001c0001t0044 a0001c0001t0058	a0001c0001t0009g0098 a0001c0001t0009g0130 a0001c0001t0009g0137 others(6): Show a0001c0001t0009g0098 a0001c0001t0009g0130 a0001c0001t0009g0137 a0001c0001t0009g0138 a0001c0001t0016g0115 a0001c0001t0016g0155 a0001c0001t0016g0207 a0001c0001t0044g0136 a0001c0001t0058g0117	9	230	0.0391	-101	c.911 others(15): Show c.911-641_911-541del	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
SCUBE1_chr22_43192280_43348372	43281408	CCCTCAGC others(94): Show CCCTCAGCCATCCTCCTGTCACCTCCCTTGGCCACCCTCCTGTCATCTCC CTCAGCCACCCTCCTGTCACCTCCCTCTTTGGCCACCCTCCTGTCACCTC CT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0073 a0005c0016t0073	a0005c0016t0073g0130 a0005c0016t0073g0130	1	258	0.0039	-101	c.484 others(17): Show c.484+9537_484+9637del	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	4262975	CACCTCAT others(94): Show CACCTCATCACCCCCCACACCCACCCTCCCCTCTACCTCATCACCTCCCC ACCCCTCACCTCCACCTCATCACCCCCCACCCCCTCCCCTCCCCTCCCTT CT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02602.hp2 HG01934.hp1 HG02602.hp2	a0001 a0002 a0001 a0002	a0001c0062 a0002c0009 a0001c0062 a0002c0009	a0001c0062t0053 a0002c0009t0004 a0001c0062t0053 a0002c0009t0004	a0001c0062t0053g0042 a0002c0009t0004g0093 a0001c0062t0053g0042 a0002c0009t0004g0093	2	116	0.0172	-101	c.638 others(19): Show c.6382-2131_6382-2031del	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SGPP2_chr2_222419543_222567621	222556715	CCCCCATC others(94): Show CCCCCATCCACCCTCACTCCTCCCCATCCACCCTCACTCCTCCCCATTCA CCCTCACTCCTCCCCATCCACCCTCACTCCTTCCCCATCCACCCTCACTC CT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG01934.hp2 others(5): Show HG00140.hp1 HG00280.hp1 HG01934.hp2 HG02451.hp2 HG02895.hp1 HG03098.hp2 HG03139.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0009 a0001c0006t0009 a0001c0006t0036 a0001c0003t0009 a0001c0006t0009 a0001c0006t0036	a0001c0003t0009g0032 a0001c0003t0009g0154 a0001c0003t0009g0161 others(5): Show a0001c0003t0009g0032 a0001c0003t0009g0154 a0001c0003t0009g0161 a0001c0003t0009g0192 a0001c0003t0009g0247 a0001c0006t0009g0029 a0001c0006t0009g0184 a0001c0006t0036g0122	8	268	0.0299	-101	c.649 others(17): Show c.649-1591_649-1491del	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGSM2_chr17_2332501_2386054	2355235	GTTGGGGG others(94): Show GTTGGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGA GT	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	417	0.0024	-101	c.134 others(17): Show c.134-6400_134-6300del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2356379	TGGGGGAA others(94): Show TGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGT TGGGGGCAGGGGCCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGT TG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00597.hp1 others(39): Show HG00280.hp2 HG00408.hp1 HG00597.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG02056.hp2 HG02074.hp2 HG02523.hp2 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18953.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18989.hp2 NA18994.hp1 NA19012.hp1 NA19056.hp2 NA19057.hp1 NA19066.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp1 NA19086.hp1 NA20300.hp2 NA20752.hp2	a0001 a0025 a0001 a0025	a0001c0001 a0001c0003 a0001c0028 others(1): Show a0001c0001 a0001c0003 a0001c0028 a0025c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0003t0002 a0001c0028t0001 a0025c0027t0001	a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0080 others(38): Show a0001c0001t0001g0012 a0001c0001t0001g0073 a0001c0001t0001g0080 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0282 a0001c0001t0001g0306 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0324 a0001c0001t0001g0364 a0001c0001t0002g0173 a0001c0001t0002g0203 a0001c0001t0002g0247 a0001c0001t0002g0269 a0001c0001t0003g0267 a0001c0001t0003g0327 a0001c0001t0021g0325 a0001c0003t0002g0104 a0001c0003t0002g0115 a0001c0028t0001g0248 a0025c0027t0001g0238	42	271	0.1550	-101	c.134 others(17): Show c.134-5253_134-5153del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC7A1_chr13_29504414_29600688	29559371	AGGGGGAG others(94): Show AGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTG AATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTG AG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp2 HG02083.hp1 others(8): Show HG00597.hp2 HG00735.hp2 HG02083.hp1 HG02165.hp1 HG03195.hp1 HG03704.hp2 NA18944.hp1 NA18998.hp1 NA18999.hp2 NA19009.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0016t0006	a0001c0001t0001g0005 a0001c0001t0001g0143 a0001c0001t0001g0256 others(7): Show a0001c0001t0001g0005 a0001c0001t0001g0143 a0001c0001t0001g0256 a0001c0001t0001g0277 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0003g0316 a0001c0001t0014g0278 a0001c0016t0006g0276	11	270	0.0407	-101	c.-11 others(19): Show c.-114-5612_-114-5512del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SYTL3_chr6_158645054_158769871	158704906	CCCAGGGC others(94): Show CCCAGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGGG ACCCAGGGCAGGGTGACAGTGAGGGCTGTAAGGCCACATAGGGCAGGAGG GA	C C	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0086 a0002c0002t0001g0086	1	290	0.0034	-101	c.395 others(17): Show c.395-2321_395-2221del	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TAFA5_chr22_48484553_48756932	48496221	TTTGGGCT others(94): Show TTTGGGCTGTGAGCTTGGGGCATGGCTGCTGGCCTCGGGGGACTGACTGT GGGCTCTCTGGACAGATGCTTTTGGTCACGGCATCTGCTGGGCAGTGAGC TG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00558.hp1 others(19): Show HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp1 HG01884.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03516.hp2 NA18906.hp1 NA18945.hp1 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0028	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0170 others(19): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0096 a0001c0001t0002g0195 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0004g0016 a0001c0001t0015g0005 a0001c0001t0015g0013 a0001c0001t0028g0018	22	256	0.0859	-101	c.112 others(17): Show c.112+6620_112+6720del	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCA_chr5_77686166_77781339	77743382	CTGGGCAA others(94): Show CTGGGCAAATATCCATGAGAACAGAAAATGGAGAGGAAGTTAGAGAAAGC TGGAAGAGTCATCAGACTACAATGCAGTTCTGACCCTGAGTGCAGATACG AG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	352	0.0028	-101	c.53+ others(17): Show c.53+32722_53+32822del	TBCA	ENSG00000171530.15	transcript	ENST00000380377.9	protein_coding	1/3			chr5	TogoVar
TCF3_chr19_1604292_1657615	1628085	GGGGGTGA others(94): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC AC	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0047 a0001c0009t0047	a0001c0009t0047g0167 a0001c0009t0047g0167	1	318	0.0031	-101	c.299 others(15): Show c.299-760_299-660del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628287	ACGGGGTG others(94): Show ACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGG AAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAA CT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0095 a0002c0001t0095	a0002c0001t0095g0339 a0002c0001t0095g0339	1	349	0.0029	-101	c.299 others(15): Show c.299-962_299-862del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TENM1_chrX_124370903_125209312	124471238	TAATATAT others(94): Show TAATATATAATAATATATATTATAATATATAGTACTATATATAATATATA GTACTATATATTATAATATATAGTACTATATATTATAATATATAGTACTA TA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0005 a0002c0018t0005	a0002c0018t0005g0072 a0002c0018t0005g0072	1	138	0.0072	-101	c.394 others(21): Show c.3949+10393_3949+10493del	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	25/34			chrX	TogoVar
TENM2_chr5_166974029_168269157	167860332	TCTGCCCG others(94): Show TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCC CC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0023 a0001c0012t0023	a0001c0012t0023g0016 a0001c0012t0023g0016	1	54	0.0185	-101	c.503 others(19): Show c.503-15624_503-15524del	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
THADA_chr2_43225851_43601038	43297734	GCCCCCCG others(94): Show GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGATCA GC	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	195	0.0051	-101	c.443 others(19): Show c.4439-4622_4439-4522del	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
TMEM104_chr17_74771499_74844753	74787297	AGTCTGCT others(94): Show AGTCTGCTGGCAGAGTTGTCCTGGCCTCAAGAAAGCAGGAGATGGGCCGG GCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGG TG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp2 HG02486.hp2 others(7): Show HG01099.hp2 HG01243.hp2 HG02486.hp2 HG02572.hp2 HG02809.hp2 HG03041.hp1 HG03669.hp1 NA18906.hp1 NA19064.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0015	a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 others(7): Show a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0005g0034 a0001c0001t0005g0038 a0001c0001t0008g0037 a0001c0001t0015g0043	10	302	0.0331	-101	c.168 others(17): Show c.168-1490_168-1390del	TMEM104	ENSG00000109066.14	transcript	ENST00000335464.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
TRERF1_chr6_42219931_42456926	42262434	CAGAGAGA others(94): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA18946.hp2 HG03540.hp2 NA18946.hp2	a0002 a0003 a0002 a0003	a0002c0013 a0003c0003 a0002c0013 a0003c0003	a0002c0013t0017 a0003c0003t0001 a0002c0013t0017 a0003c0003t0001	a0002c0013t0017g0120 a0003c0003t0001g0172 a0002c0013t0017g0120 a0003c0003t0001g0172	2	50	0.0400	-101	c.188 others(17): Show c.1884+785_1884+885del	TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17			chr6	TogoVar
TRIQK_chr8_92878534_92971144	92949680	GAAAGAAA others(94): Show GAAAGAAAGAAAGAAAGAAAAGAGAAAGGAAGGGAGGGAGGGAGGGAGGA AGGAAGGAAGAAAGGAAGGAAAGGGAAGGAAAGAAAGAGAAGGAAAGAAA GA	G G	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	332	0.0030	-101	c.-22 others(17): Show c.-22+4625_-22+4725del	TRIQK	ENSG00000205133.12	transcript	ENST00000521988.6	protein_coding	2/4			chr8	TogoVar
TSR3_chr16_1344240_1356878	1346751	CGGAGGCC others(94): Show CGGAGGCCCTGTGGGAGCTACTCCTCCAGGCCATTCTGCAGGTGGGGCCA GCGGGGCAGGTGGGGCTGGCCCGTGGTCACTGATGCTGCCCTGCAGGGTG CT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	-101	c.25 others(11): Show c.2585_*2685del	TSR3	ENSG00000007520.4	transcript	ENST00000007390.3	protein_coding		2488		chr16	TogoVar
TTLL8_chr22_50013575_50063298	50021881	TCTCCATC others(94): Show TCTCCATCTGACGTGCACTCCTCCATCTGATGATGTGTACTCCTCCACCT GACATGCAGTCCTCCATCTGACGTGCACTCCTCCATCTGACGACGTGCAC TC	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02523.hp2 HG04115.hp1 others(6): Show HG02071.hp1 HG02523.hp2 HG04115.hp1 NA18945.hp1 NA18946.hp2 NA18960.hp1 NA18993.hp2 NA19000.hp2 NA19067.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0006 others(1): Show a0002c0002 a0003c0003 a0006c0006 a0006c0023	a0002c0002t0002 a0003c0003t0002 a0006c0006t0002 others(1): Show a0002c0002t0002 a0003c0003t0002 a0006c0006t0002 a0006c0023t0002	a0002c0002t0002g0123 a0003c0003t0002g0160 a0006c0006t0002g0010 others(6): Show a0002c0002t0002g0123 a0003c0003t0002g0160 a0006c0006t0002g0010 a0006c0006t0002g0012 a0006c0006t0002g0014 a0006c0006t0002g0107 a0006c0006t0002g0158 a0006c0006t0002g0175 a0006c0023t0002g0108	9	178	0.0506	-101	c.225 others(19): Show c.2252-3191_2252-3091del	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TYMS_chr18_652653_678578	666895	GGTGATGG others(94): Show GGTGATGGAGATGGTGATGGTGATGGAGATGGTGATGGTGATGGAGATGG TGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTG AT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp2 HG02155.hp1 others(2): Show HG01167.hp1 HG01243.hp2 HG02155.hp1 HG02451.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0004g0025 a0001c0001t0004g0082 a0001c0001t0005g0059 others(1): Show a0001c0001t0004g0025 a0001c0001t0004g0082 a0001c0001t0005g0059 a0001c0001t0008g0023	5	386	0.0130	-101	c.455 others(17): Show c.455-2175_455-2075del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
TYMS_chr18_652653_678578	667179	TGATGGTG others(94): Show TGATGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTG ATGGAGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGAT GG	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	432	0.0023	-101	c.455 others(17): Show c.455-1833_455-1733del	TYMS	ENSG00000176890.16	transcript	ENST00000323274.15	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
UNC5A_chr5_176805559_176885898	176872313	ACCAACAC others(94): Show ACCAACACCACAGCTTCCCATCTGTCCACGCTCACCAACACCACAGCTTC ACATCTGCCCACACTCACCAACACCACAGCTTCCCATCTGCCCACACTCG CC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01257.hp2 others(10): Show HG00099.hp1 HG00735.hp1 HG01257.hp2 HG01891.hp2 HG02145.hp1 HG02572.hp1 HG02683.hp2 HG03041.hp1 HG03139.hp1 HG03486.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0040 a0001c0001t0002g0118 a0001c0001t0002g0184 others(10): Show a0001c0001t0002g0040 a0001c0001t0002g0118 a0001c0001t0002g0184 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0211 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0049 a0001c0001t0003g0065 a0001c0001t0003g0080 a0001c0001t0003g0081 a0001c0001t0003g0111	13	265	0.0491	-101	c.887 others(17): Show c.887-1631_887-1531del	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UPK3A_chr22_45279949_45300874	45291263	TGTGGTGT others(94): Show TGTGGTGTGGGTGGTGTATGTGGTGTGTGGTGGGGGTGTGTGTGAATGAG GGTGTGTGTGGTGTGTGTGGTTAGCGTGAGAGTATGTCTGGTGTGTGTGA GA	T T	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	2	442	0.0045	-101	c.572 others(17): Show c.572-1896_572-1796del	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
WDR86_chr7_151376124_151415038	151398479	TGTGTATG others(94): Show TGTGTATGTGTATATGTGTGCGCACGTGTGTATGTGTAAGTTTGTGTATG AGTGTGTATGTATGTTGTGTATGCACGTGTATATGTGTAAGTTGTTTGTA TG	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0125 a0002c0007t0001g0125	1	456	0.0022	-101	c.305 others(17): Show c.305+1520_305+1620del	WDR86	ENSG00000187260.16	transcript	ENST00000334493.11	protein_coding	2/5			chr7	TogoVar
XKR4_chr8_55097028_55547054	55431928	CTGCTCAC others(94): Show CTGCTCACATAATATTACGGGTTATAGCATTTAGCTCTTCCTAGCATCTG ATTCTTTCTTCATGGACTGGAAAAGCAAACCCATTGATAGTTAATCCAAT CA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA19063.hp2 NA18998.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0077 a0001c0001t0067 a0001c0001t0077	a0001c0001t0067g0167 a0001c0001t0077g0053 a0001c0001t0067g0167 a0001c0001t0077g0053	2	182	0.0110	-101	c.100 others(21): Show c.1006+74067_1006+74167del	XKR4	ENSG00000206579.10	transcript	ENST00000327381.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
XRN1_chr3_142301610_142453037	142319269	GTTCGGAA others(94): Show GTTCGGAAGCTGTGATAGAGACTATCTGGCCCACAAGGCCTAAAATATTT ACTATCTGACTCTTCACAGAAAAAATTTGCTGACTCATGTTTATACCATC CT	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	322	0.0031	-101	c.440 others(17): Show c.4405-467_4405-367del	XRN1	ENSG00000114127.11	transcript	ENST00000392981.7	protein_coding	37/40			chr3	TogoVar
ZC3HC1_chr7_130013292_130056374	130040373	AGTCCCAG others(94): Show AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGA GGCGGAGCTTACAGTGAGCCAAGATCGCACCACTGCACTCCATCCAGCCT GG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01496.hp1 HG02109.hp1 others(9): Show HG01099.hp1 HG01496.hp1 HG02109.hp1 HG02109.hp2 HG02622.hp1 HG02886.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG03579.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0011 a0001c0001 a0002c0002 a0007c0011	a0001c0001t0001 a0002c0002t0001 a0007c0011t0001 a0001c0001t0001 a0002c0002t0001 a0007c0011t0001	a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0043 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0032 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0002c0002t0001g0060 a0007c0011t0001g0049	12	314	0.0382	-101	c.409 others(15): Show c.409+477_409+577del	ZC3HC1	ENSG00000091732.17	transcript	ENST00000358303.9	protein_coding	3/9			chr7	TogoVar
ZFHX3_chr16_72777885_73053128	72789010	GGCTGGAC others(94): Show GGCTGGACAACCTTGTATTCTAATGAGGACTCAGTCCTAGGTCAGCTCCC ATACTTCCCCTTTCAGCCAAACAACTTCCAGAAGTATCCCACCAGGCTCA GA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0003 a0003	a0003c0046 a0003c0046	a0003c0046t0025 a0003c0046t0025	a0003c0046t0025g0241 a0003c0046t0025g0241	1	252	0.0040	-101	c.942 others(17): Show c.9428-263_9428-163del	ZFHX3	ENSG00000140836.17	transcript	ENST00000268489.10	protein_coding	9/9			chr16	TogoVar
ZFYVE28_chr4_2264597_2423645	2396622	ACACAAGG others(94): Show ACACAAGGCGGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GCCACAAGGCGGGGTGTCTGAGCTGATGGGACCAGCCATCCTGCAGAGGG GC	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0138 a0001c0005t0002g0138	1	287	0.0035	-101	c.39+ others(17): Show c.39+21562_39+21662del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar

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