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
PMAIP1_chr18_59894996_59909305	59903667	AGTGTGCA others(139): Show AGTGTGCATCCTACAAAAAGTGATCTCTTAATGTAAATTAAGAATATTTT CATAATTGGAATATACTTTTCTTAAAAAAAAGGAACAGTTAGTTCTCATC TAGAATGAAAGTTCCATATATGCATTGGTGAATATATATGTATACAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0004 a0001c0001t0011g0004	1	458	0.0022	-146	c.91 others(10): Show c.915_*1060del	PMAIP1	ENSG00000141682.12	transcript	ENST00000316660.7	protein_coding	2/2	915		chr18	TogoVar
POLG_chr15_89311320_89339824	89325117	AGTGAGTG others(139): Show AGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG TGAGAGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTG AGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGAGAGTGAGT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03471.hp1 NA18906.hp2 HG01884.hp1 HG03471.hp1 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	3	398	0.0075	-146	c.194 others(17): Show c.1949+187_1949+332del	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP1R13B_chr14_103728195_103852575	103786938	CCTCAGGT others(139): Show CCTCAGGTGATCCACCCACCTCGACCTCCCAAAGTGCTGGGATTACGGGC GTGAGCCACCATGCCTGGCCTACACCCAGCTAATTTTTTGAATTTTTTGT AGAGACAGGGTTCACCATGTTGGCCAGGCTGGTCTTGAATTCCTGAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02615.hp1 HG01081.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0329 a0001c0001t0008g0330 a0001c0001t0008g0329 a0001c0001t0008g0330	2	332	0.0060	-146	c.158 others(17): Show c.158-2170_158-2025del	PPP1R13B	ENSG00000088808.18	transcript	ENST00000202556.14	protein_coding	2/16			chr14	TogoVar
PRKAG2_chr7_151551127_151882115	151874375	GATGTATA others(139): Show GATGTATATGTATATGATGTATATGTATATGTATATGATGTATATGTATA TGTATATGATGTATATGTATATGTATATGATGTATATGTATATGTATATG ATGTATATGTATATGATGTATATGTATATGATGTATATGTATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00544.hp2 HG01358.hp1 others(3): Show HG00280.hp1 HG00544.hp2 HG01358.hp1 HG01952.hp2 NA18945.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011	a0001c0001t0004g0219 a0001c0001t0004g0247 a0001c0001t0005g0216 others(3): Show a0001c0001t0004g0219 a0001c0001t0004g0247 a0001c0001t0005g0216 a0001c0001t0005g0232 a0001c0001t0005g0245 a0001c0001t0011g0233	6	252	0.0238	-146	c.114 others(17): Show c.114+1986_114+2131del	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKX_chrX_3599340_3718649	3639233	GTGGATGG others(139): Show GTGGATGGATGAAGGGGTAGGTGGGTGGATGGATGGATGGATGGATGGAT GAAGGGGTGGGGGGGTCGGGGGGTGGATGGATGAAGGGGTGGGGTGGTAG ATGGATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0127 a0002c0003t0127	a0002c0003t0127g0185 a0002c0003t0127g0185	1	227	0.0044	-146	c.719 others(17): Show c.719+2473_719+2618del	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PSD3_chr8_18522303_19018703	18594145	ATATAATA others(139): Show ATATAATATATATTATTATATACATATTATATAATATATATTATTATATA CATATTATATAATATATATTATTATATATATTATATAATATATATTATTA TATATATTATATAATATATATTATTATATATATTATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp1 HG03041.hp2 others(1): Show HG02109.hp2 HG02622.hp1 HG03041.hp2 HG03130.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0002 a0002c0007 a0002c0030 others(1): Show a0001c0002 a0002c0007 a0002c0030 a0011c0035	a0001c0002t0022 a0002c0007t0021 a0002c0030t0021 others(1): Show a0001c0002t0022 a0002c0007t0021 a0002c0030t0021 a0011c0035t0025	a0001c0002t0022g0184 a0002c0007t0021g0003 a0002c0030t0021g0183 others(1): Show a0001c0002t0022g0184 a0002c0007t0021g0003 a0002c0030t0021g0183 a0011c0035t0025g0157	4	228	0.0175	-146	c.248 others(19): Show c.2481+6073_2481+6218del	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
RASGEF1C_chr5_180095795_180214211	180096112	CCCTTCCT others(139): Show CCCTTCCTTGCTGTCTTCCTTCCTTCTTTCCTTCCTTCCCTCCTTCCTTC CTCCCTTCCTGTCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTGTCTTCC TCCCTTCCTTCCCTCCTTCCCTCCCTCCCTTCCTTCCTGTCTTCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0027 a0001c0002t0034g0027	1	370	0.0027	-146	c.52 others(11): Show c.5243_*5388del	RASGEF1C	ENSG00000146090.16	transcript	ENST00000361132.9	protein_coding		4682		chr5	TogoVar
RGL3_chr19_11389060_11424314	11414231	TTATATAT others(139): Show TTATATATATATATACCTTTATATATATACCTTTATATATATATACCTTT ATATATATATACCTTCATATATATACATATATATATATACCTTCATATAT ATATATATACCTTTATATATATATACCTTTATATATACCTTTATATA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02723.hp1 HG02896.hp1 HG02559.hp2 HG02723.hp1 HG02896.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0278 a0001c0003t0001g0323 a0002c0002t0001g0264 a0001c0003t0001g0278 a0001c0003t0001g0323 a0002c0002t0001g0264	3	402	0.0075	-146	c.637 others(17): Show c.637+1560_637+1705del	RGL3	ENSG00000205517.13	transcript	ENST00000380456.8	protein_coding	5/18			chr19	TogoVar
RGS12_chr4_3288021_3444913	3366382	CCTCCAGG others(139): Show CCTCCAGGGTTAAGAGCAGGGAGAGAATCAGGGCCTGTGCTCATATCTGT GAGCTCTGCAGATGTCTCCCGGGCACAGTCAGCAGAGGCGCTCCTCCAGT TCCCGCCTCTCTGCCTCGCACGCCCTCCTAGCTGAGAGTGAGGTGGT	C C	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	312	0.0032	-146	c.199 others(21): Show c.1999-20032_1999-19887del	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SARDH_chr9_133658560_133743352	133668864	TCCCCTCA others(139): Show TCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCTTCCCTCTCC CTCACCTTCCCTCTCCCTCACCCTCCATCTCCCTCACCCTCCCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	262	0.0038	-146	c.249 others(19): Show c.2495+1574_2495+1719del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCNN1D_chr1_1275436_1297025	1288204	TGTGTCTC others(139): Show TGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG03704.hp2 NA18960.hp2 others(2): Show HG00544.hp1 HG03704.hp2 NA18960.hp2 NA18964.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0037 a0002c0002t0001g0052 others(2): Show a0002c0002t0001g0025 a0002c0002t0001g0037 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0108	5	290	0.0172	-146	c.166 others(17): Show c.1662+191_1662+336del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288228	TCTGCTCC others(139): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCC CGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA19007.hp2 NA19070.hp1 HG01346.hp1 NA19007.hp2 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0005 a0003c0004t0003g0006 a0003c0004t0003g0253 a0003c0004t0003g0005 a0003c0004t0003g0006 a0003c0004t0003g0253	3	290	0.0103	-146	c.166 others(17): Show c.1662+209_1662+354del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN14_chr7_55788540_55867752	55836992	AAGTTGAA others(139): Show AAGTTGAAGACAGCATGTTTTGTTAGGGCTGAGTGCAGAAAAGAATCTGA TAATATGACAATTTCCTTTATATGTATATTGCTTTTCTATATTTAAAAAA GAAAATATACTTTTAACCTTTTTTTTTTTTTTGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0251 a0001c0001t0033g0251	1	390	0.0026	-146	c.559 others(17): Show c.559-2552_559-2407del	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	5/9			chr7	TogoVar
SLC12A7_chr5_1045384_1117063	1072014	GGTATCAC others(139): Show GGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCAC ACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0023 a0001c0007t0006g0023	1	118	0.0085	-146	c.224 others(19): Show c.2241+1473_2241+1618del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1072700	CAGCCCCC others(139): Show CAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCA GTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCC CCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTG	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0002 a0002c0034t0002	a0002c0034t0002g0091 a0002c0034t0002g0091	1	118	0.0085	-146	c.224 others(17): Show c.2241+787_2241+932del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC12A7_chr5_1045384_1117063	1105132	GAGGTCCT others(139): Show GAGGTCCTGCAGTCACCCACCAGTCAAAAGGACCCTCCCCGCAGGGATGA GGTCCTGCAGTCACCCACCAGCCAAAGGGGACCCTCCCCGCAGGGATGAG GTCCTGCAGTCACCCACCAGCCAAAGGGAACCCTCCCCGCAGGGGTT	G G	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04204.hp2 HG04184.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0095 a0001c0001t0018g0096 a0001c0001t0001g0095 a0001c0001t0018g0096	2	118	0.0170	-146	c.124 others(17): Show c.124+6590_124+6735del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SLC16A3_chr17_82224042_82245086	82224196	ACACCTGT others(139): Show ACACCTGTGCAGACACACCCCTACACCCGTGCAGACACACCCCTACACCT GTGCAGTCACCTGTGCAGACACACCCCTACACCCGTGCAGACACACCCCT ACACCTGTGCAGTCACCTGTGCAGACACACCCCTACACCTGTGCAGT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18973.hp2 NA18962.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	2	410	0.0049	-146	c.-49 others(11): Show c.-4936_-4791del	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		4845		chr17	TogoVar
SLC28A2_chr15_45247234_45282846	45277839	TAGAAGGA others(139): Show TAGAAGGATTCAGGTACTTGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	T T	splice_region_variant splice_region_variant	LOW	HG00140.hp1 HG00558.hp2 HG00639.hp1 others(119): Show HG00140.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18957.hp2 NA18964.hp1 NA18970.hp2 NA18975.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0007	a0001c0003 a0002c0002 a0003c0004 others(4): Show a0001c0003 a0002c0002 a0003c0004 a0003c0009 a0005c0006 a0006c0007 a0007c0013	a0001c0003t0004 a0001c0003t0011 a0001c0003t0020 others(20): Show a0001c0003t0004 a0001c0003t0011 a0001c0003t0020 a0001c0003t0021 a0001c0003t0024 a0001c0003t0025 a0002c0002t0002 a0002c0002t0008 a0002c0002t0012 a0002c0002t0014 a0002c0002t0016 a0002c0002t0022 a0002c0002t0023 a0002c0002t0026 a0002c0002t0027 a0002c0002t0028 a0003c0004t0005 a0003c0004t0015 a0003c0004t0019 a0003c0009t0005 a0005c0006t0002 a0006c0007t0004 a0007c0013t0004	a0001c0003t0004g0004 a0001c0003t0004g0022 a0001c0003t0004g0030 others(79): Show a0001c0003t0004g0004 a0001c0003t0004g0022 a0001c0003t0004g0030 a0001c0003t0004g0031 a0001c0003t0004g0037 a0001c0003t0004g0038 a0001c0003t0004g0039 a0001c0003t0004g0040 a0001c0003t0004g0041 a0001c0003t0004g0049 a0001c0003t0004g0050 a0001c0003t0004g0052 a0001c0003t0004g0102 a0001c0003t0004g0103 a0001c0003t0004g0126 a0001c0003t0004g0127 a0001c0003t0004g0130 a0001c0003t0011g0004 a0001c0003t0011g0051 a0001c0003t0011g0054 a0001c0003t0011g0129 a0001c0003t0020g0004 a0001c0003t0021g0100 a0001c0003t0024g0053 a0001c0003t0025g0104 a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0029 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0121 a0002c0002t0002g0125 a0002c0002t0008g0002 a0002c0002t0008g0013 a0002c0002t0008g0017 a0002c0002t0008g0110 a0002c0002t0008g0111 a0002c0002t0008g0114 a0002c0002t0008g0122 a0002c0002t0012g0002 a0002c0002t0012g0116 a0002c0002t0014g0002 a0002c0002t0014g0119 a0002c0002t0014g0123 a0002c0002t0016g0016 a0002c0002t0022g0017 a0002c0002t0023g0016 a0002c0002t0026g0124 a0002c0002t0027g0120 a0002c0002t0028g0011 a0003c0004t0005g0014 a0003c0004t0005g0018 a0003c0004t0005g0019 a0003c0004t0005g0020 a0003c0004t0005g0032 a0003c0004t0005g0034 a0003c0004t0005g0035 a0003c0004t0005g0042 a0003c0004t0005g0097 a0003c0004t0005g0098 a0003c0004t0005g0099 a0003c0004t0005g0132 a0003c0004t0005g0133 a0003c0004t0005g0134 a0003c0004t0005g0135 a0003c0004t0015g0018 a0003c0004t0015g0136 a0003c0004t0019g0033 a0003c0009t0005g0019 a0005c0006t0002g0002 a0005c0006t0002g0043 a0005c0006t0002g0044 a0005c0006t0002g0045 a0005c0006t0002g0046 a0006c0007t0004g0004 a0007c0013t0004g0128	122	304	0.4013	-146	c.23 others(11): Show c.2327_*2472del	SLC28A2	ENSG00000137860.12	transcript	ENST00000347644.8	protein_coding	18/18			chr15	TogoVar
SLIT3_chr5_168656740_169306139	168704195	TTTGAGAA others(139): Show TTTGAGAAGCACTGTTCTGAGACATTGAACATATGTGCCTGAAACTAAAT GGCTGAAAAAGAATCAGCCAACAGATATATTTTTTCCCCAAATCTTAACA TAATGGCAAAATACTGACCCTTTGTGAAGTATCTACTGAATCCTGGC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02145.hp1 HG02615.hp2 others(13): Show HG01934.hp2 HG02145.hp1 HG02615.hp2 HG02622.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0012 a0015	a0001c0004 a0001c0010 a0001c0038 others(5): Show a0001c0004 a0001c0010 a0001c0038 a0001c0052 a0002c0002 a0003c0055 a0012c0024 a0015c0023	a0001c0004t0005 a0001c0004t0006 a0001c0004t0010 others(12): Show a0001c0004t0005 a0001c0004t0006 a0001c0004t0010 a0001c0004t0014 a0001c0004t0019 a0001c0010t0033 a0001c0038t0011 a0001c0052t0005 a0002c0002t0005 a0002c0002t0018 a0002c0002t0019 a0002c0002t0024 a0003c0055t0010 a0012c0024t0029 a0015c0023t0005	a0001c0004t0005g0008 a0001c0004t0006g0060 a0001c0004t0010g0131 others(13): Show a0001c0004t0005g0008 a0001c0004t0006g0060 a0001c0004t0010g0131 a0001c0004t0014g0001 a0001c0004t0014g0002 a0001c0004t0019g0102 a0001c0010t0033g0103 a0001c0038t0011g0066 a0001c0052t0005g0088 a0002c0002t0005g0082 a0002c0002t0018g0105 a0002c0002t0019g0107 a0002c0002t0024g0086 a0003c0055t0010g0115 a0012c0024t0029g0076 a0015c0023t0005g0085	16	132	0.1212	-146	c.284 others(19): Show c.2844+3635_2845-3517del	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	26/35			chr5	TogoVar
SPAG16_chr2_213279464_214415501	213980232	TTCTCTAT others(139): Show TTCTCTATATATATAGAATATATGTGTGTATATATATTCTCTATATATAT AGAATATATGTGTGTATATATATTCTCTATATATATAGAATATATGTGTG TATATATATTCTCTATATATATAGAATATATGTGTGTATATATATTC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	86	0.0116	-146	c.140 others(21): Show c.1401-33715_1401-33570del	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG16_chr2_213279464_214415501	213980270	CTCTATAT others(139): Show CTCTATATATATAGAATATATGTGTGTATATATATTCTCTATATATATAG AATATATGTGTGTATATATATTCTCTATATATATAGAATATATGTGTGTA TATATATTCTCTATATATATAGAATATATGTGTGTATATATATTCTA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG02615.hp2 others(3): Show HG01891.hp2 HG02109.hp1 HG02615.hp2 HG06807.hp2 NA19086.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0003	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0040 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0040 a0002c0002t0001g0051 a0002c0002t0002g0052 a0003c0003t0003g0019	6	86	0.0698	-146	c.140 others(21): Show c.1401-33679_1401-33534del	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SQSTM1_chr5_179815905_179843078	179830809	GTCTCCCA others(139): Show GTCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCCG TGCCCAGCTATTTTAAAATTTTTTTGTAGAGATGGGGTCTTGCCATGCTG CCCAGGCCGATTTTGAACTCCTGGGCTCAAGAGATTTCTCATGTTGT	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0044 a0001c0003t0010g0044	1	462	0.0022	-146	c.755 others(17): Show c.755-2210_755-2065del	SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
STX8_chr17_9245471_9580820	9295770	TGCAGTGG others(139): Show TGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGACAGGT GGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAA CCCCATCTCTACCAAAAATACAAAAAATTAGCCAGGTGTGGCCAGGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01074.hp2 others(19): Show HG00323.hp1 HG01069.hp1 HG01074.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG02145.hp1 HG02148.hp2 HG02683.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03704.hp1 HG03710.hp2 HG04184.hp1 NA18965.hp2 NA19043.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0105 others(19): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0166 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0147 a0001c0002t0001g0011 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0002g0002 a0001c0002t0002g0062 a0001c0003t0001g0053 a0001c0003t0001g0066 a0001c0004t0001g0076 a0001c0004t0001g0131 a0001c0004t0001g0160 a0001c0004t0002g0180	22	188	0.1170	-146	c.644 others(19): Show c.644-45271_644-45126del	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	7/7			chr17	TogoVar
SUPT16H_chr14_21346476_21389019	21387223	TGCCTGTA others(139): Show TGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACTTGAG GTTAGGAGTTCAAGACCACCCTGGCCAACATAGCGAAACTCTGTCCCTAC TAAAAATACCAAAATTAGCCGGGAGTCAGCCAGGCGTGGTGGCTCAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0082 a0001c0004t0012g0082	1	308	0.0033	-146	c.-34 others(11): Show c.-3442_-3297del	SUPT16H	ENSG00000092201.10	transcript	ENST00000216297.7	protein_coding		3205		chr14	TogoVar
SYNPR_chr3_63273308_63621924	63313784	CATATATA others(139): Show CATATATATATATCCATATATATATCCATATATATATCCATATATATATC CATATATATATATCCATATATATATCCATATATATATATCCATATATATA TCCATATATATATATCCATATATATATCCATATATATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	246	0.0041	-146	c.84+ others(17): Show c.84+35067_84+35212del	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAF13_chr1_109059140_109081003	109071975	TACACACA others(139): Show TACACACATATATATATATATATATATATATATATATATACACACACATA TATATATATATATATATATACACACACATATATATATATATATATATATA TACACACACATATATATATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01099.hp1 HG02818.hp1 others(6): Show HG00733.hp1 HG01099.hp1 HG02818.hp1 HG02965.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18956.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0010 a0001c0001t0002g0104 a0001c0001t0002g0154 others(4): Show a0001c0001t0001g0010 a0001c0001t0002g0104 a0001c0001t0002g0154 a0001c0001t0004g0089 a0001c0001t0005g0192 a0001c0001t0006g0118 a0001c0001t0006g0153	9	414	0.0217	-146	c.106 others(17): Show c.106+2866_106+3011del	TAF13	ENSG00000197780.11	transcript	ENST00000338366.6	protein_coding	2/3			chr1	TogoVar
TBC1D5_chr3_17152168_17747631	17705031	GCGGCTGG others(139): Show GCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA CGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	162	0.0062	-146	c.-10 others(21): Show c.-101+37304_-101+37449del	TBC1D5	ENSG00000131374.15	transcript	ENST00000696125.1	protein_coding	1/22			chr3	TogoVar
THSD7B_chr2_136760545_137682718	136890373	CTTCCTCT others(139): Show CTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTTCTTCTC CTTTCTTCTCCTTTCTTCTCCTTTCTTCTCCTTTCTTCTTCTTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA19084.hp2 NA18993.hp2 NA19084.hp2	a0001 a0004 a0001 a0004	a0001c0056 a0004c0055 a0001c0056 a0004c0055	a0001c0056t0003 a0004c0055t0003 a0001c0056t0003 a0004c0055t0003	a0001c0056t0003g0086 a0004c0055t0003g0076 a0001c0056t0003g0086 a0004c0055t0003g0076	2	98	0.0204	-146	c.139 others(17): Show c.139+8057_139+8202del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27			chr2	TogoVar
THSD7B_chr2_136760545_137682718	136890379	CTTCCTCT others(139): Show CTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTCCTTTCTTCTCCTTTCT TCTCCTTTCTTCTCCTTTCTTCTCCTTTCTTCTTCTTCTTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0022 a0022	a0022c0015 a0022c0015	a0022c0015t0005 a0022c0015t0005	a0022c0015t0005g0098 a0022c0015t0005g0098	1	98	0.0102	-146	c.139 others(17): Show c.139+8063_139+8208del	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	2/27			chr2	TogoVar
TMCO3_chr13_113486021_113555229	113519678	CCAAGTCT others(139): Show CCAAGTCTGTGTTGGTCACACAGTGAAGGCTCATTCCGTGTGGTGGCTTG GGTGCGTCTGCACCATTTGGACACCAAGTCTGTCTTGGTCTCACAGCGAA GGCTCATTCCGTGTGGTGGCTTGGGTGCGTCTGCACCATTTGGACAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0312 a0002c0004t0005g0312	1	368	0.0027	-146	c.122 others(17): Show c.1226-921_1226-776del	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM132D_chr12_129066726_129909025	129856135	GTGCCCTT others(139): Show GTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGG AGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAACGG GATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02083.hp2 HG02647.hp1 others(2): Show HG02040.hp1 HG02083.hp2 HG02647.hp1 HG02809.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0004t0001	a0001c0001t0001g0083 a0001c0001t0005g0056 a0001c0001t0006g0067 others(2): Show a0001c0001t0001g0083 a0001c0001t0005g0056 a0001c0001t0006g0067 a0001c0001t0010g0048 a0001c0004t0001g0036	5	94	0.0532	-146	c.79+ others(17): Show c.79+46980_79+47125del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
TRAPPC9_chr8_139722725_140462744	140157001	CTTTTCCA others(139): Show CTTTTCCATTCAGAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCA TTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAGAAGC CTCCCTTTCCATTCAGAAGCCTCCCTTTTCCATTCAGAAGCCTCCCT	C C	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0057 a0001c0005t0009g0057	1	98	0.0102	-146	c.255 others(21): Show c.2556+64312_2556+64457del	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRIML1_chr4_188134441_188152743	188152431	GTTGAGAA others(139): Show GTTGAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGTGGGGG TGAGAAGGGGAGTGAGAGAGGGGGTGAGAAGGGAAGTGAGAGTGGGGGTT GAGAAGGGGAGTGAGAGAGAGGGTGAGAAGGGGAGTGAGAGAGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	228	0.0044	-146	c.50 others(11): Show c.5060_*5205del	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4689		chr4	TogoVar
TRUB1_chr10_114933195_114982676	114935545	CGAGGGGT others(139): Show CGAGGGGTCCACTCCTGTGATCCAATCACCTACCACCAGGCCCAACCTCC AACACTGGGAGCTAAACCATTCACGAGGGGTCCACTCCTGTGATCCAATC ACCTACCACCAGGCCCAACCTCCAACACTGGGAGCTAAACCATTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	238	0.0042	-146	c.-27 others(11): Show c.-2708_-2563del	TRUB1	ENSG00000165832.6	transcript	ENST00000298746.5	protein_coding		2649		chr10	TogoVar
TRUB1_chr10_114933195_114982676	114935618	CGAGGGGT others(139): Show CGAGGGGTCCACTCCTGTGATCCAATCACCTACCACCAGGCCCAACCTCC AACACTGGGAGCTAAACCATTCATGAGGGGTCCACTCCTGTGATCCAATC ACCTACCACCAGGCCCAACCTCCAACACTGGGAGCTAAACCATTCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0077 a0001c0005t0008g0077	1	238	0.0042	-146	c.-26 others(11): Show c.-2635_-2490del	TRUB1	ENSG00000165832.6	transcript	ENST00000298746.5	protein_coding		2576		chr10	TogoVar
TUBGCP5_chr15_22994177_23044569	23042296	GACGTCAT others(139): Show GACGTCATAACCACACTTGGCCAGAGGTGCCGGTGGGACTTCATAACCCC ACCTGGCCAGAGGTGCTGGGGGACATCATAACCCCACCTGGCCAGAGGTG CCAGGGGGGACATCATAACCCCACCTGGCCAGAGGTGCTGGGGGACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02615.hp2 HG02647.hp2 others(3): Show HG01099.hp1 HG02615.hp2 HG02647.hp2 NA18982.hp1 NA18992.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0001 a0001c0001t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0010 a0001c0002t0002g0096 a0001c0002t0002g0252 others(3): Show a0001c0001t0001g0010 a0001c0002t0002g0096 a0001c0002t0002g0252 a0001c0003t0001g0133 a0001c0003t0001g0134 a0001c0003t0001g0135	6	351	0.0171	-146	c.-28 others(11): Show c.-2899_-2754del	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2728		chr15	TogoVar
VCX3B_chrX_8459830_8471510	8466580	AGGGAGGG others(139): Show AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0067 a0067	a0067c0079 a0067c0079	a0067c0079t0008 a0067c0079t0008	a0067c0079t0008g0001 a0067c0079t0008g0001	1	271	0.0037	-146	c.19 others(9): Show c.198_*343del	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		71		chrX	TogoVar
WNK1_chr12_747579_916452	783770	CAAAAAAA others(139): Show CAAAAAAAAAAAAAAAATTATCCAGGCACAGCGGCATGTGCCTGTAGTCC CAGCTACCTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTG AGACCAGGCTAGGCAACAAACCAAGATGCTGTCTCCACCAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0187 a0002c0003t0001g0187	1	284	0.0035	-146	c.759 others(19): Show c.759+29463_759+29608del	WNK1	ENSG00000060237.19	transcript	ENST00000315939.11	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
XXYLT1_chr3_195063284_195276159	195272801	AGGCAGTG others(139): Show AGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCGAGAGGCTGAG GCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGTGAGCCGAGAT CATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAAACCCTGTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG03130.hp2 others(2): Show HG02615.hp1 HG02809.hp1 HG03130.hp2 HG03540.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0020 a0001c0001t0001 a0001c0001t0013 a0001c0001t0020	a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 others(2): Show a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0013g0106 a0001c0001t0020g0109	5	198	0.0253	-146	c.-18 others(11): Show c.-1889_-1744del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding		1643		chr3	TogoVar
YBEY_chr21_46281342_46302751	46293433	GAGTCAGC others(139): Show GAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGC CTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTA GATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03225.hp2 HG01099.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0020 a0001c0001t0001g0025	2	404	0.0050	-146	c.339 others(17): Show c.339+1972_339+2117del	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4			chr21	TogoVar
ZNF641_chr12_48332180_48355919	48333098	CCCCCCCA others(139): Show CCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGCACGGCTGGCCGGGCGGGGGGGCTGAC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	-146	c.97 others(11): Show c.9729_*9874del	ZNF641	ENSG00000167528.13	transcript	ENST00000547026.6	protein_coding		4081		chr12	TogoVar
ZNF713_chr7_55882456_55947225	55887716	CGGAGGCG others(139): Show CGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGG GGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGAGGCGGGGGGCGGCGGGCG GCGGGCGGCGGGCGGCGGGCGGCGGGCGGCGGCGGCGGCGGGCGGCG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01978.hp2 HG02258.hp2 others(2): Show HG01081.hp1 HG01978.hp2 HG02258.hp2 HG02451.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0033 a0001c0001t0007 a0001c0001t0033	a0001c0001t0007g0128 a0001c0001t0007g0129 a0001c0001t0007g0130 others(2): Show a0001c0001t0007g0128 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0132 a0001c0001t0033g0131	5	410	0.0122	-146	c.-58 others(16): Show c.-583+39_-583+184del	ZNF713	ENSG00000178665.16	transcript	ENST00000429591.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZNG1B_chr2_113432691_113501204	113496531	CCCGCCTT others(139): Show CCCGCCTTTGACATGCCCCCATCAATGTGGGTTTCCGTTATCTCCTGTTC CCGCCTTTGACATGCCCCCATCAATGTGGGTTTCCGTTATCTCCTGTTCC CGCCTTTGACATGCCCCCATCAATGTGGGTTTCCGTTATCTCCTGTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0219 a0002c0002t0002g0219	1	276	0.0036	-146	c.78 others(9): Show c.789_*934del	ZNG1B	ENSG00000136682.16	transcript	ENST00000259199.9	protein_coding		328		chr2	TogoVar
ZNG1B_chr2_113432691_113501204	113496551	ATCAATGT others(139): Show ATCAATGTGGGTTTCCGTTATCTCCTGTTCCCGCCTTTGACATGCCCCCA TCAATGTGGGTTTCCGTTATCTCCTGTTCCCGCCTTTGACATGCCCCCAT CAATGTGGGTTTCCGTTATCTCCTGTTCCCGCCTTTGACATGCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(92): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp1 HG02572.hp1 HG02698.hp2 HG02717.hp2 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03239.hp2 HG03486.hp1 HG03579.hp2 HG03669.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18955.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19057.hp2 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19089.hp2 NA19090.hp2 NA21309.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0002c0007 a0004c0006 others(1): Show a0002c0002 a0002c0007 a0004c0006 a0006c0005	a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 others(5): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0007t0002 a0004c0006t0002 a0006c0005t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(82): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0179 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0198 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0207 a0002c0002t0002g0208 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0002g0218 a0002c0002t0002g0220 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0005g0002 a0002c0002t0005g0189 a0002c0002t0005g0213 a0002c0002t0006g0020 a0002c0002t0006g0170 a0002c0002t0006g0206 a0002c0002t0007g0019 a0002c0002t0009g0152 a0002c0007t0002g0159 a0004c0006t0002g0178 a0006c0005t0002g0002	95	276	0.3442	-146	c.80 others(9): Show c.809_*954del	ZNG1B	ENSG00000136682.16	transcript	ENST00000259199.9	protein_coding		348		chr2	TogoVar
ACAP2_chr3_195269745_195448020	195272801	AGGCAGTG others(138): Show AGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTACTCGAGAGGCTGAG GCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGCAGTGAGCCGAGAT CATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAAACCCTGTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02895.hp2 others(1): Show HG02109.hp1 HG02630.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0011 a0001c0001t0006 a0001c0001t0011	a0001c0001t0006g0100 a0001c0001t0011g0088 a0001c0001t0011g0089 others(1): Show a0001c0001t0006g0100 a0001c0001t0011g0088 a0001c0001t0011g0089 a0001c0001t0011g0090	4	324	0.0124	-145	c.63 others(11): Show c.6382_*6526del	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding		1943		chr3	TogoVar
ACAP3_chr1_1287391_1312930	1289702	CTCCGTCC others(138): Show CTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCG TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	295	0.0034	-145	c.37 others(11): Show c.3717_*3861del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2688		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289783	TCCCCCGT others(138): Show TCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	-145	c.36 others(11): Show c.3636_*3780del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2607		chr1	TogoVar
ADARB2_chr10_1172313_1742525	1238437	TACTCCCC others(138): Show TACTCCCCTCTTCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCA CTCCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCAC TCCCCCCTCCCTCCCGGTGTTCACTCCCCTCTCCCTCCCGGTGTTC	T T	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0084 a0002c0002t0004g0084	1	106	0.0094	-145	c.136 others(19): Show c.1361+3549_1361+3693del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1240154	CTCTGCCT others(138): Show CTCTGCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCC CTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCT GCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	106	0.0094	-145	c.136 others(19): Show c.1361+1832_1361+1976del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AGAP1_chr2_235489043_236136793	235734944	GTGATGTT others(138): Show GTGATGTTTGCGTCATAAGATGGGGTGAGGGCTAACGGAGATGATGTGGG AAAACAAGTGCTTTGTATCCTGCCGCGCACTGGCCGTGGAGCTCTTGCTC TGTGTCTGAACTCCTTTTCCTCCTGAGTGGATTTGGGTGTTGCCAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp1 HG01192.hp2 others(8): Show HG00642.hp1 HG01168.hp1 HG01192.hp2 HG01496.hp1 HG01496.hp2 HG02080.hp1 HG02135.hp2 HG02630.hp2 HG03139.hp2 HG03516.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(3): Show a0001c0001 a0001c0002 a0001c0005 a0001c0011 a0002c0004 a0002c0007	a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 others(8): Show a0001c0001t0005 a0001c0001t0011 a0001c0002t0001 a0001c0002t0013 a0001c0002t0034 a0001c0005t0013 a0001c0011t0036 a0002c0004t0001 a0002c0004t0006 a0002c0004t0029 a0002c0007t0018	a0001c0001t0005g0007 a0001c0001t0011g0098 a0001c0002t0001g0010 others(8): Show a0001c0001t0005g0007 a0001c0001t0011g0098 a0001c0002t0001g0010 a0001c0002t0013g0035 a0001c0002t0034g0084 a0001c0005t0013g0050 a0001c0011t0036g0009 a0002c0004t0001g0082 a0002c0004t0006g0042 a0002c0004t0029g0083 a0002c0007t0018g0028	11	98	0.1122	-145	c.311 others(17): Show c.311-5992_311-5848del	AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr2	TogoVar

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