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
CROCC2_chr2_240901336_240998311	240908500	GCTCTACC others(118): Show GCTCTACCTCCTCCACCTCAGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGCGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTCGGGTGAC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02155.hp2 HG03710.hp2 HG02004.hp1 HG02155.hp2 HG03710.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0008 a0001c0001 a0002c0002 a0008c0008	a0001c0001t0002 a0002c0002t0002 a0008c0008t0002 a0001c0001t0002 a0002c0002t0002 a0008c0008t0002	a0001c0001t0002g0274 a0002c0002t0002g0252 a0008c0008t0002g0337 a0001c0001t0002g0274 a0002c0002t0002g0252 a0008c0008t0002g0337	3	350	0.0086	-125	c.78+ others(15): Show c.78+1927_78+2051del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240908525	CCTCTACC others(118): Show CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGCGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAG	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02004.hp2 HG02056.hp1 others(4): Show HG01515.hp1 HG02004.hp2 HG02056.hp1 HG03041.hp1 NA18971.hp2 NA18981.hp1 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0018	a0001c0001 a0002c0002 a0002c0012 others(2): Show a0001c0001 a0002c0002 a0002c0012 a0004c0004 a0018c0016	a0001c0001t0002 a0002c0002t0002 a0002c0012t0002 others(2): Show a0001c0001t0002 a0002c0002t0002 a0002c0012t0002 a0004c0004t0002 a0018c0016t0002	a0001c0001t0002g0247 a0001c0001t0002g0248 a0002c0002t0002g0245 others(4): Show a0001c0001t0002g0247 a0001c0001t0002g0248 a0002c0002t0002g0245 a0002c0002t0002g0249 a0002c0012t0002g0250 a0004c0004t0002g0244 a0018c0016t0002g0246	7	350	0.0200	-125	c.78+ others(15): Show c.78+1979_78+2103del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240908793	CAGGTGAC others(118): Show CAGGTGACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT GGCGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCT CGGGTGACCTCTACCTCCTCCACCTG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0019 a0019	a0019c0017 a0019c0017	a0019c0017t0002 a0019c0017t0002	a0019c0017t0002g0242 a0019c0017t0002g0242	1	350	0.0029	-125	c.78+ others(15): Show c.78+2203_78+2327del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31			chr2	TogoVar
CROCC2_chr2_240901336_240998311	240908850	GCTCTACC others(118): Show GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCGGGTGA CCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAC	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02004.hp1 HG01167.hp2 HG02004.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0008 a0002c0002 a0008c0008	a0002c0002t0002 a0008c0008t0002 a0002c0002t0002 a0008c0008t0002	a0002c0002t0002g0252 a0008c0008t0002g0251 a0002c0002t0002g0252 a0008c0008t0002g0251	2	350	0.0057	-125	c.78+ others(15): Show c.78+2277_78+2401del	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1268340	ATGTGTGT others(118): Show ATGTGTGTGTGCAGGTCTGTGTGTGCAGTTGTGTGTGCAGACATGCATAT GTGTGCAGGTGTGTGTGCAGATGTGTGTGTAGCTGTGTGTACGCCCGTGC GCACTGTGTGCAGGTGTGTGGAGATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0006 a0004c0010t0006	a0004c0010t0006g0033 a0004c0010t0006g0033	1	159	0.0063	-125	c.-62 others(9): Show c.-629_-505del	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		473		chrX	TogoVar
CTNND2_chr5_10966836_11909446	11880600	GCACTACT others(118): Show GCACTACTACTACCACTACTACTGCTACTAGTACTACTACTACTACCACT ACTACTATCACCACTACTACTACTCTACCACTACTACTGCTACTAGTACT ACCACTACTACCACTACTACTACCAC	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02647.hp1 HG03130.hp1 others(5): Show HG00738.hp2 HG02647.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 NA19043.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0005t0001 a0001c0006t0002 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0003g0026 a0001c0002t0001g0006 a0001c0005t0001g0020 a0001c0006t0002g0025 a0001c0007t0001g0002	8	26	0.3077	-125	c.37+ others(17): Show c.37+23092_37+23216del	CTNND2	ENSG00000169862.21	transcript	ENST00000304623.13	protein_coding	1/21			chr5	TogoVar
CYLC2_chr9_102990333_103023488	103014756	ATGTAATA others(118): Show ATGTAATATACGTATGTATATTATGCAATATACATATGTAATATACGTAT GTATATTATGCAATATACATATGTAATATACGTATGTATATTATGCAATA TACATAATATATGTAATATACTATGT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp2 HG02027.hp1 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0034 a0002c0002t0017g0034	2	448	0.0045	-125	c.81 others(19): Show c.817-2131_*817-2007del	CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7			chr9	TogoVar
CYP11B1_chr8_142867357_142884825	142884669	CCCTTTTT others(118): Show CCCTTTTTTATAGAGGCCATTCTAACCAGTGTCAGGTGATACTTCTTTTT TTTTTTTTTTTTTCAGACAGAGTCTCACTCTGTTGCCCAGGCTGGAGTGC AGTGGCGCAATCTCAGCTCACCACAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0080 a0001c0005t0014g0080	1	428	0.0023	-125	c.-49 others(11): Show c.-4981_-4857del	CYP11B1	ENSG00000160882.13	transcript	ENST00000292427.10	protein_coding		4845		chr8	TogoVar
CYTH3_chr7_6156779_6277624	6270791	GACTTTTG others(118): Show GACTTTTGATACTTCATATCATCCTTTGTTATAGTACTCAAGACCTGCAA ATTGCTGGAGCACATTAAAGCCTCCTCTTTTCCTCTTTATTCCTGCTTTA ATCTTCAAGTCTACATTTCTTTACTC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0081 a0001c0001t0017g0082 a0001c0001t0017g0081 a0001c0001t0017g0082	2	348	0.0058	-125	c.34+ others(15): Show c.34+1558_34+1682del	CYTH3	ENSG00000008256.17	transcript	ENST00000350796.8	protein_coding	1/12			chr7	TogoVar
DDC_chr7_50453442_50570405	50460238	GGTCAGCC others(118): Show GGTCAGCCCCTGGCCCAGCCTGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCAGGAAGGAGGTGGGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02970.hp1 NA19030.hp1 HG02572.hp1 HG02970.hp1 NA19030.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0031 a0002c0004t0004g0138 a0002c0004t0004g0139 a0002c0004t0004g0031 a0002c0004t0004g0138 a0002c0004t0004g0139	3	360	0.0083	-125	c.19 others(17): Show c.19-1520_*19-1396del	DDC	ENSG00000132437.18	transcript	ENST00000444124.7	protein_coding	14/14			chr7	TogoVar
DEFB109B_chr8_7307722_7325096	7318223	CCTAAAGG others(118): Show CCTAAAGGAAATAGAATGCTTCTAGCTGGGTTTAAAAGCTACAAATAAAC AGAGGAAATATACACTATTTTGAAAGTACCACTTGAGCGTTCTGTATGTA TTTCAATATTATGTTGCTAATTTTAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02572.hp1 others(5): Show HG02145.hp1 HG02280.hp1 HG02572.hp1 HG02897.hp2 HG03098.hp2 HG03486.hp1 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0009 a0001c0003t0002g0040 a0001c0003t0002g0041 a0001c0003t0002g0009 a0001c0003t0002g0040 a0001c0003t0002g0041	8	377	0.0212	-125	c.59- others(15): Show c.59-1522_59-1398del	DEFB109B	ENSG00000206034.2	transcript	ENST00000382656.2	protein_coding	1/1			chr8	TogoVar
DIP2C_chr10_269201_694668	608315	ACACACAC others(118): Show ACACACACAGCCCCTACACACACACAGCCCCCCCACACACCCCCCCACAG CCCCCCCCACACACAGCCCCCCACACACACACCCCCACAGCCCCCCACAC ACACCCCCAGCCCCCCCCACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0087 a0001c0005t0002g0087	1	88	0.0114	-125	c.85+ others(17): Show c.85+81054_85+81178del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLC1_chr8_13078361_13519851	13453421	TATGTGTA others(118): Show TATGTGTATATATATATGTATATATATACATATATATATGTATATATATA CATATATATGTATATATATACATATATATATGTATATATATATACATATA TATATATGTATATATATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02738.hp1 HG03669.hp2 others(1): Show HG02080.hp1 HG02738.hp1 HG03669.hp2 HG03942.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0006 a0004c0005 a0002c0002 a0002c0006 a0004c0005	a0002c0002t0001 a0002c0006t0001 a0004c0005t0002 a0002c0002t0001 a0002c0006t0001 a0004c0005t0002	a0002c0002t0001g0085 a0002c0006t0001g0039 a0004c0005t0002g0170 others(1): Show a0002c0002t0001g0085 a0002c0006t0001g0039 a0004c0005t0002g0170 a0004c0005t0002g0179	4	212	0.0189	-125	c.102 others(21): Show c.1023+45503_1023+45627del	DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1255191	TGGGTGCT others(118): Show TGGGTGCTGTGTGTGTGCCCTCTCATCCTGCCTGGGTGCTGTGTGTGTGC CCTCTCATCCTGCCCGGGTGCTGTGTGTGTGTCCTCTCCTGCCTGGGTGC TGTGTGTGTGCCCTCTCATCCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	40	0.0250	-125	c.74- others(15): Show c.74-3550_74-3426del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1419322	CGTGTGTG others(118): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAGGTTTTGTTTTCCTTTTA TAAATGGTTATTTTTGGTTGACTCACAGTAATTGTACATATTTGTGGGAT ACTGTGTTACACTCTGATACGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG01891.hp1 HG01891.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0024 a0001c0003t0014 a0001c0003t0024	a0001c0003t0014g0020 a0001c0003t0024g0003 a0001c0003t0014g0020 a0001c0003t0024g0003	2	40	0.0500	-125	c.107 others(19): Show c.107-82015_107-81891del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1641941	CGCCGGTC others(118): Show CGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGTCCCCACCTGTGT CACCCTCGACCCCGCTGGTCCTCACCTGTGTCACCCTCGACCCTGCCGGC CCCCACCTGTGTCACCCTCGACCCCG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG03486.hp1 HG02647.hp1 HG02647.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0017 a0002c0001t0002 a0002c0001t0005 a0001c0003t0017 a0002c0001t0002 a0002c0001t0005	a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0005g0035 a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0005g0035	3	40	0.0750	-125	c.181 others(19): Show c.1810+8896_1810+9020del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1691936	GGTACCGA others(118): Show GGTACCGAGGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGA GGCAGGGAGGCGGATACGGCCCTGGTTTAAACGCGGTACCGAGGCAGGGA GGCGGATACGGCCCTGGTTTAAACGC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG03486.hp2 HG02074.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0001 a0001c0009 a0002c0001	a0001c0009t0012 a0002c0001t0020 a0001c0009t0012 a0002c0001t0020	a0001c0009t0012g0006 a0002c0001t0020g0024 a0001c0009t0012g0006 a0002c0001t0020g0024	2	40	0.0500	-125	c.279 others(17): Show c.2796+312_2796+436del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EFR3A_chr8_131899093_132018642	131928116	CGTGTAGT others(118): Show CGTGTAGTTAAGTACCTTATAAACCTAATTGATTGGTTGACTAGTCATGA AATACTTAAAATGTTCTTTGAATGTCTCTCCTGGAAGAATGCTTCAAATG TGGAACTTCTGTTACTGTGTGTATTA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0019 a0001c0019t0019	a0001c0019t0019g0132 a0001c0019t0019g0132	1	412	0.0024	-125	c.11- others(17): Show c.11-12382_11-12258del	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding	1/22			chr8	TogoVar
EIF3B_chr7_2349827_2385745	2377813	CCTGGGAA others(118): Show CCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAG CAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGT CGAGGAAGGAGAAGGCGCGAGCACTG	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0217 a0001c0003t0014g0217	1	384	0.0026	-125	c.215 others(17): Show c.2154+745_2155-745del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377821	TCCGTGTT others(118): Show TCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGCG AGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAG GAGAAGGCGCGAGCACTGCTGGGATG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02559.hp1 NA18522.hp1 others(2): Show HG00609.hp1 HG02559.hp1 NA18522.hp1 NA18999.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0009t0001 a0002c0002t0001 a0001c0001t0001 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0120 a0001c0001t0001g0196 a0001c0009t0001g0182 others(2): Show a0001c0001t0001g0120 a0001c0001t0001g0196 a0001c0009t0001g0182 a0002c0002t0001g0247 a0002c0002t0001g0253	5	384	0.0130	-125	c.215 others(17): Show c.2154+776_2155-714del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2377887	CGTGTTGT others(118): Show CGTGTTGTGTGAATGACCCTGGGTGTCGAGGAAGGAGAAGGCGCGAGCAC TGCTGGGATGCCGTGTTCTGTGAATGACCCTGGGTGTCATGGAGGAAGGA GCAGGCGCGAGCTCTCCTGGGATGCT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0300 a0002c0002t0001g0300	1	384	0.0026	-125	c.215 others(17): Show c.2155-796_2155-672del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378116	CAGGCGCG others(118): Show CAGGCGCGAGCTCTCCTGGGAATCCGTGTTCTGTGAATGACCCTGGGTGT CAAGGAGGAAGGAGCAGGCGCGAGCGCTCCTGGGAAGCCGTGTTGTGTGA ATGACCCTGGGTGTCGAGGAAGGAGA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0173 a0001c0003t0001g0173	1	384	0.0026	-125	c.215 others(17): Show c.2155-562_2155-438del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378137	ATCCGTGT others(118): Show ATCCGTGTTCTGTGAATGACCCTGGGTGTCAAGGAGGAAGGAGCAGGCGC GAGCGCTCCTGGGAAGCCGTGTTGTGTGAATGACCCTGGGTGTCGAGGAA GGAGAAGGCGCGAGCACTGCTGGGAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0237 a0001c0017t0001g0237	1	384	0.0026	-125	c.215 others(17): Show c.2155-551_2155-427del	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18			chr7	TogoVar
ENOSF1_chr18_665318_717630	667155	TGATGGAG others(118): Show TGATGGAGATGGTGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTG ATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGTGATGGTGAT GGTGATGGAGATGGTGATGGTGATGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	418	0.0024	-125	c.70 others(11): Show c.7025_*7149del	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3162		chr18	TogoVar
EXOC3L2_chr19_45207370_45250407	45229188	AATTAAAT others(118): Show AATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATG TATTAAATATATACATATATTTATGTATTAAATATATACATATATTTATG TATTAAATATATACATATATTTATGT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00558.hp1 HG00738.hp1 others(44): Show HG00323.hp1 HG00558.hp1 HG00738.hp1 HG01167.hp1 HG01169.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02145.hp2 HG02257.hp2 HG02523.hp1 HG02622.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18947.hp1 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18982.hp2 NA18995.hp1 NA18998.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19056.hp1 NA19059.hp2 NA19060.hp2 NA19066.hp2 NA19240.hp2	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0003 a0002c0008 a0002c0013 others(2): Show a0002c0003 a0002c0008 a0002c0013 a0005c0032 a0006c0011	a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 others(9): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0008t0001 a0002c0008t0002 a0002c0013t0001 a0005c0032t0001 a0006c0011t0001 a0006c0011t0004 a0006c0011t0005	a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0032 others(44): Show a0002c0003t0001g0019 a0002c0003t0001g0020 a0002c0003t0001g0032 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0071 a0002c0003t0001g0072 a0002c0003t0001g0097 a0002c0003t0001g0118 a0002c0003t0001g0124 a0002c0003t0001g0131 a0002c0003t0001g0135 a0002c0003t0001g0230 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0349 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0134 a0002c0003t0002g0192 a0002c0003t0002g0218 a0002c0003t0002g0234 a0002c0003t0002g0242 a0002c0003t0002g0245 a0002c0003t0003g0222 a0002c0003t0004g0244 a0002c0003t0004g0246 a0002c0003t0005g0101 a0002c0003t0005g0272 a0002c0008t0001g0140 a0002c0008t0001g0203 a0002c0008t0002g0059 a0002c0008t0002g0139 a0002c0008t0002g0309 a0002c0008t0002g0310 a0002c0013t0001g0243 a0002c0013t0001g0247 a0002c0013t0001g0279 a0002c0013t0001g0289 a0005c0032t0001g0315 a0006c0011t0001g0026 a0006c0011t0004g0028 a0006c0011t0005g0027 a0006c0011t0005g0049	47	356	0.1320	-125	c.127 others(18): Show c.1270-1047_1270-923del	EXOC3L2	ENSG00000283632.4	transcript	ENST00000413988.3	protein_coding	4/11			chr19	TogoVar
EXPH5_chr11_108500435_108598768	108586449	TCCCCTTT others(118): Show TCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTT CCTCCCTCCCCATCCTCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCC CCCATCCCCTTTCCTCCCTCCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0054 a0008c0009t0054	a0008c0009t0054g0311 a0008c0009t0054g0311	1	314	0.0032	-125	c.119 others(17): Show c.119+6844_119+6968del	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
FAM78B_chr1_166064299_166172001	166077837	TTATATAT others(118): Show TTATATATATAATAATATATATAATTTATATATATAATTATATATATAAT AAATATATATAATTTATATATATAATTATATATATAATAAATATATAATA ATATATATAATTTATATATATAATTA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00597.hp2 others(57): Show HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG01074.hp2 HG01106.hp1 HG01167.hp2 HG01346.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp1 HG02155.hp1 HG02165.hp1 HG02293.hp2 HG02738.hp2 HG03490.hp2 HG03492.hp2 HG03704.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18964.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18982.hp1 NA18986.hp2 NA18987.hp2 NA18991.hp1 NA18995.hp1 NA18998.hp2 NA19007.hp2 NA19011.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp1 NA19079.hp2 NA19083.hp2 NA19088.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0054 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0097 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0203 a0001c0001t0001g0212 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0253 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0016g0071	60	318	0.1887	-125	c.264 others(17): Show c.264-7199_264-7075del	FAM78B	ENSG00000188859.7	transcript	ENST00000354422.4	protein_coding	1/1			chr1	TogoVar
FAM9B_chrX_9019232_9039127	9021299	AATATATT others(118): Show AATATATTATATTATATATATTATATATAATATATTATATTATATATATT ATATATAATATATTATATTATATATATTATATATAATATATTATATATAT TATATATATTATATATAATATATTAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	258	0.0039	-125	c.39 others(11): Show c.3985_*4109del	FAM9B	ENSG00000177138.17	transcript	ENST00000327220.10	protein_coding		2932		chrX	TogoVar
GAK_chr4_844277_937316	914121	GCCCCACA others(118): Show GCCCCACACACACAGCCCCAGCGTGCACGGCCCCCACACACACAGCCCCA GCGTGCACGGCCCCACACATACACAGCCCCAGCGTGCACAGCCCCCACAC ACACAGCCCCAGCGTGCACGGCCCCC	G G	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19007.hp2 NA19088.hp2 others(1): Show NA18988.hp2 NA19007.hp2 NA19088.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0001 a0002c0003t0001 a0001c0005t0001 a0002c0003t0001	a0001c0005t0001g0003 a0001c0005t0001g0161 a0002c0003t0001g0167 a0001c0005t0001g0003 a0001c0005t0001g0161 a0002c0003t0001g0167	4	390	0.0103	-125	c.146 others(15): Show c.146-578_146-454del	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAL3ST2_chr2_241771822_241809287	241807525	ACCCTCCC others(118): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01516.hp2 HG01517.hp2 HG00642.hp2 HG01516.hp2 HG01517.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0005c0005t0001 a0001c0001t0002 a0005c0005t0001	a0001c0001t0002g0178 a0005c0005t0001g0002 a0001c0001t0002g0178 a0005c0005t0001g0002	3	314	0.0096	-125	c.33 others(11): Show c.3360_*3484del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3239		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807646	ACCCTCCC others(118): Show ACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0123 a0002c0002t0002g0123	1	314	0.0032	-125	c.34 others(11): Show c.3481_*3605del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3360		chr2	TogoVar
GAL3ST2_chr2_241771822_241809287	241807806	ACCCTCCC others(118): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCA GCCCAGGGACCTCTGCAGGCCACCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19088.hp2 NA19066.hp2 NA19088.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0006 a0001c0001 a0006c0006	a0001c0001t0002 a0006c0006t0001 a0001c0001t0002 a0006c0006t0001	a0001c0001t0002g0176 a0006c0006t0001g0003 a0001c0001t0002g0176 a0006c0006t0001g0003	2	314	0.0064	-125	c.36 others(11): Show c.3641_*3765del	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3520		chr2	TogoVar
GALNT17_chr7_71127144_71718599	71680572	CTCTCTCC others(118): Show CTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCT CCTTCCTTTCCTTCCTTCCTCCCTCTCTCCCTCCTTCCTTCCTTTCTTCC TTTCCTTTTGTTTCCTTTCCTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0017 a0001c0002t0019g0017	1	76	0.0132	-125	c.150 others(19): Show c.1500+3268_1500+3392del	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GNG2_chr14_51855612_51974795	51937614	AAATACAT others(118): Show AAATACATAATTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACA TGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGT GCGCTGCACCCACTAATGTGTCATCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp2 HG00544.hp1 others(113): Show HG00280.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01243.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG04199.hp2 HG06807.hp2 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp2 NA18980.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA19000.hp1 NA19001.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp2 NA19068.hp2 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19091.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0058 a0001c0001t0063 a0001c0001t0069 a0001c0001t0076 a0001c0002t0045 a0001c0002t0062	a0001c0001t0001g0057 a0001c0001t0001g0208 a0001c0001t0001g0217 others(113): Show a0001c0001t0001g0057 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0272 a0001c0001t0001g0291 a0001c0001t0001g0301 a0001c0001t0002g0001 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0088 a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0155 a0001c0001t0002g0183 a0001c0001t0002g0193 a0001c0001t0002g0202 a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0310 a0001c0001t0002g0314 a0001c0001t0002g0320 a0001c0001t0002g0329 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0368 a0001c0001t0002g0378 a0001c0001t0003g0054 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0328 a0001c0001t0005g0011 a0001c0001t0005g0079 a0001c0001t0005g0130 a0001c0001t0005g0175 a0001c0001t0005g0187 a0001c0001t0005g0227 a0001c0001t0005g0255 a0001c0001t0005g0277 a0001c0001t0005g0302 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0006g0228 a0001c0001t0006g0236 a0001c0001t0006g0352 a0001c0001t0008g0033 a0001c0001t0008g0042 a0001c0001t0008g0205 a0001c0001t0008g0312 a0001c0001t0010g0319 a0001c0001t0011g0280 a0001c0001t0012g0196 a0001c0001t0012g0327 a0001c0001t0013g0226 a0001c0001t0013g0229 a0001c0001t0013g0230 a0001c0001t0013g0232 a0001c0001t0013g0363 a0001c0001t0015g0009 a0001c0001t0015g0044 a0001c0001t0015g0046 a0001c0001t0015g0050 a0001c0001t0015g0162 a0001c0001t0017g0035 a0001c0001t0017g0045 a0001c0001t0018g0081 a0001c0001t0018g0084 a0001c0001t0018g0085 a0001c0001t0019g0369 a0001c0001t0021g0279 a0001c0001t0023g0122 a0001c0001t0026g0098 a0001c0001t0026g0215 a0001c0001t0026g0275 a0001c0001t0033g0351 a0001c0001t0034g0317 a0001c0001t0034g0365 a0001c0001t0035g0366 a0001c0001t0036g0286 a0001c0001t0053g0096 a0001c0001t0054g0080 a0001c0001t0055g0204 a0001c0001t0058g0129 a0001c0001t0063g0128 a0001c0001t0069g0324 a0001c0001t0076g0002 a0001c0002t0045g0134 a0001c0002t0062g0367	116	380	0.3053	-125	c.-29 others(19): Show c.-29-13022_-29-12898del	GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
GRM4_chr6_34013643_34151087	34074475	ACCAGGAG others(118): Show ACCAGGAGGCTGCTGGGCAGCGCAGGCAGTGTGGCTCAGAGCTGAGCCCT GCCGTCCCCTGCCAGGAGAGGAGGCTGCTGGGCGGCGCAGGCAGTGTGGC TCAGAGCTGAGCCCTGCCGTCCCCTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01884.hp1 HG02027.hp1 others(18): Show HG00408.hp1 HG01884.hp1 HG02027.hp1 HG02071.hp2 HG02451.hp1 HG02486.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG03130.hp1 HG03225.hp1 HG03516.hp2 HG04184.hp2 NA18990.hp1 NA18995.hp1 NA19054.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(2): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(5): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0018 a0001c0003t0004 a0001c0005t0005 a0001c0006t0011 a0001c0012t0001	a0001c0002t0001g0014 a0001c0002t0001g0080 a0001c0002t0001g0098 others(17): Show a0001c0002t0001g0014 a0001c0002t0001g0080 a0001c0002t0001g0098 a0001c0002t0001g0144 a0001c0002t0001g0182 a0001c0002t0002g0052 a0001c0002t0006g0120 a0001c0002t0006g0123 a0001c0002t0006g0186 a0001c0002t0006g0192 a0001c0002t0006g0220 a0001c0002t0006g0253 a0001c0002t0018g0265 a0001c0002t0018g0266 a0001c0003t0004g0094 a0001c0005t0005g0002 a0001c0005t0005g0174 a0001c0005t0005g0275 a0001c0006t0011g0130 a0001c0012t0001g0015	21	282	0.0745	-125	c.737 others(19): Show c.737-12572_737-12448del	GRM4	ENSG00000124493.14	transcript	ENST00000538487.7	protein_coding	3/10			chr6	TogoVar
GRP_chr18_59215158_59235771	59234327	AACATATT others(118): Show AACATATTATACATACCATGGTATATATATAATATAACATATTATACATA CCATGGTATATATATAATATAACATATTATACATACCATGGTATATATAT AATATAACATATTATACATACCATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(130): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02559.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp2 HG03239.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18974.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp2 NA19074.hp2 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0001 a0002c0002t0001 a0001c0001t0001 a0001c0006t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0006t0001g0001 a0002c0002t0001g0083	133	408	0.3260	-125	c.38 others(11): Show c.3860_*3984del	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3557		chr18	TogoVar
GRXCR1_chr4_42887713_43035658	42972881	GAATTACT others(118): Show GAATTACTTCACCACTTGAAATGATTCCATATTCAAAATTGTGAACTTAG TAACGTCCTGCTTTGGTCACAATTTTCTGTCCTTTAGTCTCTTCCATTTG TTCCCCTATTGAACTTTCTCATCATT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0274 a0002c0002t0001g0274	1	338	0.0030	-125	c.627 others(17): Show c.627+9748_627+9872del	GRXCR1	ENSG00000215203.3	transcript	ENST00000399770.3	protein_coding	2/3			chr4	TogoVar
IL3RA_chrX_1331785_1387689	1366068	GTGCGCGG others(118): Show GTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGCGTGAGCCGGGTGCG CGGGGTGCGCGGGGTGAGCGGGGTGCGCGGGGTGCGCGGGGTGCGCGGGG TGAGCGGGGTGCGCGGGGTGCGCGGC	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0013 a0001c0001t0011g0013	1	115	0.0087	-125	c.874 others(15): Show c.874+817_874+941del	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11			chrX	TogoVar
INPP5E_chr9_136423619_136444845	136431557	CCCCCCCA others(118): Show CCCCCCCAGGCCCTCACCTTTCCTCATCTCCCTCCACGCCCGCCCCCCCA GGCCCTCACCTCTCCTCATCTCCCTCCACGCCCGCCCCCCCAGGCCCTCA CCTCTCCTCATCTCCCTCCACGCCCG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	382	0.0026	-125	c.154 others(17): Show c.1549+142_1549+266del	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	7/9			chr9	TogoVar
ITPR2_chr12_26330352_26838194	26772426	TATATAAT others(118): Show TATATAATACATGTATTATATATATTATATATATAATACATGTATTATAT ATAATATATATAATACATATAATACATGTATTATATATAATACATTATTA TATATAATACATGTATTATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0026 a0001c0006t0026	a0001c0006t0026g0002 a0001c0006t0026g0002	1	142	0.0070	-125	c.163 others(19): Show c.163+17606_163+17730del	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
KCNIP4_chr4_20723606_21953772	21757143	GAAAGAAA others(118): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	80	0.0125	-125	c.61+ others(19): Show c.61+191303_61+191427del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
L3MBTL1_chr20_43502697_43546895	43506663	CATTGGTG others(118): Show CATTGGTGTGGGAGAGGGGCTGGATGGTGGACTGTACCAAAAGTTACCCT GTTTTCATCTGCATACCCTACATCATTTAGTCACTCAACAGATATTTATT AAGCACCCACTCTGTGCCCCGCTCTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	422	0.0024	-125	c.-11 others(10): Show c.-1109_-985del	L3MBTL1	ENSG00000185513.18	transcript	ENST00000418998.7	protein_coding		1033		chr20	TogoVar
LBP_chr20_38341482_38382013	38379024	CGCCCGGC others(118): Show CGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCCCTGC CCGGCCAGCCGCCCCGTCGGGGAGGTGAGGGGCGCCTTTGCCTGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01175.hp1 HG01891.hp2 others(18): Show HG00642.hp2 HG01175.hp1 HG01891.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03942.hp1 HG04204.hp2 NA18906.hp1 NA20129.hp2	a0003 a0007 a0003 a0007	a0003c0004 a0003c0019 a0007c0011 a0003c0004 a0003c0019 a0007c0011	a0003c0004t0001 a0003c0019t0001 a0007c0011t0001 a0003c0004t0001 a0003c0019t0001 a0007c0011t0001	a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0027 others(14): Show a0003c0004t0001g0025 a0003c0004t0001g0026 a0003c0004t0001g0027 a0003c0004t0001g0028 a0003c0004t0001g0323 a0003c0004t0001g0325 a0003c0004t0001g0326 a0003c0004t0001g0327 a0003c0004t0001g0328 a0003c0004t0001g0329 a0003c0004t0001g0330 a0003c0004t0001g0332 a0003c0004t0001g0337 a0003c0004t0001g0338 a0003c0019t0001g0221 a0003c0019t0001g0260 a0007c0011t0001g0331	21	394	0.0533	-125	c.23 others(11): Show c.2356_*2480del	LBP	ENSG00000129988.6	transcript	ENST00000217407.3	protein_coding		2012		chr20	TogoVar
LDLR_chr19_11084463_11138820	11101827	TAGAATCC others(118): Show TAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCA TGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAA AAAAAAAAGTGGGATTAGGTCAGGCA	T T	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0273 a0001c0001t0007g0273	1	358	0.0028	-125	c.191 others(15): Show c.191-836_191-712del	LDLR	ENSG00000130164.15	transcript	ENST00000558518.6	protein_coding	2/17			chr19	TogoVar
LHB_chr19_49010980_49022091	49011772	CTGCTGAA others(118): Show CTGCTGAAGCCTGGGAACCTCATCTCCCAGGTGTTGCCAGCACCCTGTGC ACGGGGAACTCTTAATGTTGTGTTTGGCCTGAGGATGCCGGGGACAGATT CCTGTGACACAGAGGGTACTGTGCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00673.hp1 others(58): Show HG00423.hp2 HG00558.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG01123.hp1 HG01192.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02135.hp2 HG02155.hp1 HG02280.hp1 HG02735.hp1 HG03491.hp2 HG03688.hp1 HG03831.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18945.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp2 NA19062.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19082.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	61	410	0.1488	-125	c.41 others(11): Show c.4171_*4295del	LHB	ENSG00000104826.15	transcript	ENST00000649238.3	protein_coding		4207		chr19	TogoVar
LIPI_chr21_14103813_14215955	14182613	ATTGCTTC others(118): Show ATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGT GAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAATGAAATAAAAG AGGATACAAACAAATGGCATTCACAG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01515.hp1 HG01517.hp1 others(4): Show HG01361.hp1 HG01515.hp1 HG01517.hp1 HG02258.hp1 HG02809.hp2 HG03579.hp2 NA19030.hp1	a0002 a0004 a0005 a0002 a0004 a0005	a0002c0002 a0004c0003 a0005c0004 a0002c0002 a0004c0003 a0005c0004	a0002c0002t0002 a0004c0003t0001 a0005c0004t0002 a0002c0002t0002 a0004c0003t0001 a0005c0004t0002	a0002c0002t0002g0002 a0002c0002t0002g0038 a0002c0002t0002g0042 others(3): Show a0002c0002t0002g0002 a0002c0002t0002g0038 a0002c0002t0002g0042 a0004c0003t0001g0040 a0004c0003t0001g0041 a0005c0004t0002g0039	7	362	0.0193	-125	c.542 others(15): Show c.542-879_542-755del	LIPI	ENSG00000188992.12	transcript	ENST00000681601.1	protein_coding	3/9			chr21	TogoVar
LPP_chr3_188149157_188895671	188784674	CATATATA others(118): Show CATATATATATATTCCATCATATATATATATTCCATCATATATATATATT TCCATCATATATATATTCCATCATATATATATTCCATCATATATATATAT TCCATCATATATATATATTCCATCAT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0023 a0002c0003t0023	a0002c0003t0023g0001 a0002c0003t0023g0001	1	76	0.0132	-125	c.141 others(21): Show c.1410+24403_1410+24527del	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRP12_chr8_104484236_104594258	104548249	ATATTATA others(118): Show ATATTATATTAATATATGATATATATTATATTAATATATCATATATTTAT ATAATATATATTATATAAATATATAATATATATTATATAAATATATAAAT ATATAATATATATTATATAAATATAT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	318	0.0031	-125	c.80- others(17): Show c.80-16411_80-16287del	LRP12	ENSG00000147650.12	transcript	ENST00000276654.10	protein_coding	1/6			chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531235	AAGGGCAC others(118): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAG ACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03041.hp2 NA18522.hp1 others(1): Show HG01884.hp1 HG03041.hp2 NA18522.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0005 a0002c0002 a0001c0003 a0001c0005 a0002c0002	a0001c0003t0001 a0001c0005t0001 a0002c0002t0001 a0001c0003t0001 a0001c0005t0001 a0002c0002t0001	a0001c0003t0001g0004 a0001c0005t0001g0007 a0002c0002t0001g0001 a0001c0003t0001g0004 a0001c0005t0001g0007 a0002c0002t0001g0001	4	398	0.0101	-125	c.-44 others(11): Show c.-4460_-4336del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4203		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531294	AAGGGCAC others(118): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAG ACATAGCAGGCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02486.hp2 NA18980.hp2 HG02132.hp2 HG02486.hp2 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0002 a0002c0002t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0001	3	398	0.0075	-125	c.-45 others(11): Show c.-4519_-4395del	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4262		chr8	TogoVar

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