Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
KRTAP5-11_chr11_71576855_71587875	71584744	CCCCTGGC others(73): Show CCCCTGGCTCTTAGGACCCCCATCGCAGGGGGGCGAGGCGCCCCCCGCCA TGCAAGGAGTAAGAGCCAGCCCCTCTTGCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01106.hp2 HG01255.hp2 others(4): Show HG01070.hp2 HG01106.hp2 HG01255.hp2 HG02109.hp1 HG02896.hp2 HG02897.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	464	0.0151	-80	c.-19 others(91): Show c.-1987_-1908delAGGCAAGAGGGGCTGGCTCTTACTCCTTGCATGG CGGGGGGCGCCTCGCCCCCCTGCGATGGGGGTCCTAAGAGCCAGGG	KRTAP5-11	ENSG00000204571.7	transcript	ENST00000398530.1	protein_coding		1870		chr11	TogoVar
KRTAP5-11_chr11_71576855_71587875	71584814	CCCTCTTG others(73): Show CCCTCTTGCCTCCCTGGCTCTTAGGACCCCCATCGCAGGGGGGCGAGGCG CCCCCCGCCATGCAAGGAGTAAGAGCCAGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 NA18942.hp1 NA18962.hp1 others(8): Show HG03579.hp1 NA18942.hp1 NA18962.hp1 NA18973.hp2 NA18987.hp1 NA18988.hp1 NA18999.hp2 NA19004.hp1 NA19043.hp1 NA19070.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	11	464	0.0237	-80	c.-20 others(91): Show c.-2057_-1978delTGCTGGCTCTTACTCCTTGCATGGCGGGGGGCGC CTCGCCCCCCTGCGATGGGGGTCCTAAGAGCCAGGGAGGCAAGAGG	KRTAP5-11	ENSG00000204571.7	transcript	ENST00000398530.1	protein_coding		1940		chr11	TogoVar
KRTAP5-11_chr11_71576855_71587875	71584824	TCCCTGGC others(73): Show TCCCTGGCTCTTAGGACCCCCATCGCAGGGGGGCGAGGCGCCCCCCGCCA TGCAAGGAGTAAGAGCCAGCACCTCTTGCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01952.hp1 HG02055.hp2 others(2): Show HG01884.hp2 HG01952.hp1 HG02055.hp2 HG02630.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	464	0.0108	-80	c.-20 others(91): Show c.-2067_-1988delGGGCAAGAGGTGCTGGCTCTTACTCCTTGCATGG CGGGGGGCGCCTCGCCCCCCTGCGATGGGGGTCCTAAGAGCCAGGG	KRTAP5-11	ENSG00000204571.7	transcript	ENST00000398530.1	protein_coding		1950		chr11	TogoVar
KRTAP5-11_chr11_71576855_71587875	71584844	CATCGCAG others(73): Show CATCGCAGGGGGGCGAGGCGCCCCCCGCCATGCAAGGAGTAAGAGCCAGC ACCTCTTGCCCCCCTGGCTCTTAGGACCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	464	0.0022	-80	c.-20 others(91): Show c.-2087_-2008delTGGGGTCCTAAGAGCCAGGGGGGCAAGAGGTGCT GGCTCTTACTCCTTGCATGGCGGGGGGCGCCTCGCCCCCCTGCGAT	KRTAP5-11	ENSG00000204571.7	transcript	ENST00000398530.1	protein_coding		1970		chr11	TogoVar
KSR2_chr12_117448012_117973990	117731263	TCCTCCCA others(73): Show TCCTCCCAGCAGCCGCCCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCAGC AGCCGCCCCGTCTGAGAAGTGAGGAGCCCCC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03831.hp1 HG01109.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0092 a0001c0003t0003 a0001c0001t0092 a0001c0003t0003	a0001c0001t0092g0137 a0001c0003t0003g0012 a0001c0001t0092g0137 a0001c0003t0003g0012	2	196	0.0102	-80	c.986 others(99): Show c.986+29668_986+29747delGGGGGCTCCTCACTTCTCAGACGGGG CGGCTGCTGGGCGGAGACGCTCCTCACTTCCCAGACGGGGCGGCTGCTGG GAGG	KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	4/19			chr12	TogoVar
L1TD1_chr1_62189849_62217328	62195041	GGTAAGGC others(73): Show GGTAAGGCTGGTCCAGGGGCGTGGGGTCCGGGGTGCCCCGGGTAAGGCTG GTCTAGGCGCGTGGGGTCCGCAGCGCCCCAA	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19070.hp1 NA19011.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0255 a0001c0001t0001g0256	2	414	0.0048	-80	c.-20 others(97): Show c.-205+137_-205+216delGGCGTGGGGTCCGGGGTGCCCCGGGTAA GGCTGGTCTAGGCGCGTGGGGTCCGCAGCGCCCCAAGTAAGGCTGGTCCA GG	L1TD1	ENSG00000240563.2	transcript	ENST00000498273.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
L3MBTL2_chr22_41200312_41236271	41234195	AAATATAG others(73): Show AAATATAGAAACAGCAGGACCGATTTTAGGGATACATCTGGACCAGCACA GTGTGGCTTATAGGAAAGGCCACTGTCCCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0110	1	370	0.0027	-80	c.39 others(91): Show c.3945_*4024delAATATAGAAACAGCAGGACCGATTTTAGGGATAC ATCTGGACCAGCACAGTGTGGCTTATAGGAAAGGCCACTGTCCCAC	L3MBTL2	ENSG00000100395.15	transcript	ENST00000216237.10	protein_coding		2925		chr22	TogoVar
LAMA2_chr6_128878138_129521566	129286650	TTTATATA others(73): Show TTTATATAATATATATAATAATATATAATATATTATATTTATATAATATA TATAATAATATATAATATATTATATAATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01192.hp1 HG02055.hp1 others(7): Show HG00140.hp1 HG01192.hp1 HG02055.hp1 HG02451.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03139.hp1 HG03195.hp2 HG03710.hp2	a0002 a0004 a0008 others(2): Show a0002 a0004 a0008 a0030 a0031	a0002c0003 a0002c0029 a0002c0056 others(5): Show a0002c0003 a0002c0029 a0002c0056 a0004c0027 a0004c0030 a0008c0005 a0030c0032 a0031c0060	a0002c0003t0003 a0002c0029t0002 a0002c0056t0003 others(5): Show a0002c0003t0003 a0002c0029t0002 a0002c0056t0003 a0004c0027t0001 a0004c0030t0002 a0008c0005t0003 a0030c0032t0005 a0031c0060t0001	a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0029t0002g0064 others(7): Show a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0029t0002g0064 a0002c0056t0003g0077 a0004c0027t0001g0002 a0004c0030t0002g0041 a0008c0005t0003g0034 a0008c0005t0003g0035 a0030c0032t0005g0048 a0031c0060t0001g0044	10	88	0.1136	-80	c.253 others(99): Show c.2538-1182_2538-1103delTAATAATATATAATATATTATATTTA TATAATATATATAATAATATATAATATATTATATAATATATTATATAATA TATA	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	18/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LARGE1_chr22_33267509_33925476	33344714	AATCACCC others(73): Show AATCACCCATCATTGTTGGCTTGGGGGCAGCAAGCTGGTGACTGCTAAAG AATGTCTTGTCCTGGTCCCTTGAGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00621.hp1 others(52): Show HG00280.hp1 HG00280.hp2 HG00621.hp1 HG00621.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01099.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA19068.hp1 NA19068.hp2 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0012 a0001c0014 a0001c0016 a0001c0019 a0002c0005 a0002c0010 a0002c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0023 a0001c0001t0028 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0027 a0001c0003t0003 a0001c0003t0009 a0001c0003t0011 a0001c0003t0032 a0001c0004t0001 a0001c0004t0005 a0001c0006t0029 a0001c0007t0010 a0001c0008t0012 a0001c0008t0016 a0001c0012t0019 a0001c0014t0012 a0001c0016t0020 a0001c0019t0003 a0002c0005t0008 a0002c0010t0008 a0002c0018t0008	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0020 others(52): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0096 a0001c0001t0002g0100 a0001c0001t0003g0050 a0001c0001t0004g0045 a0001c0001t0005g0028 a0001c0001t0007g0034 a0001c0001t0007g0048 a0001c0001t0014g0075 a0001c0001t0015g0004 a0001c0001t0018g0067 a0001c0001t0023g0090 a0001c0001t0028g0105 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0033 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0069 a0001c0002t0002g0089 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0003g0003 a0001c0002t0006g0080 a0001c0002t0027g0104 a0001c0003t0003g0062 a0001c0003t0009g0015 a0001c0003t0011g0018 a0001c0003t0032g0107 a0001c0004t0001g0005 a0001c0004t0005g0026 a0001c0006t0029g0108 a0001c0007t0010g0006 a0001c0008t0012g0094 a0001c0008t0016g0042 a0001c0012t0019g0029 a0001c0014t0012g0086 a0001c0016t0020g0002 a0001c0019t0003g0025 a0002c0005t0008g0014 a0002c0005t0008g0022 a0002c0005t0008g0071 a0002c0010t0008g0054 a0002c0018t0008g0068	55	110	0.5000	-80	c.113 others(99): Show c.1132-6993_1132-6914delCCTTTCCCTCAAGGGACCAGGACAAG ACATTCTTTAGCAGTCACCAGCTTGCTGCCCCCAAGCCAACAATGATGGG TGAT	LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	9/14			chr22	TogoVar
LAT2_chr7_74205006_74234834	74214543	TATATATA others(73): Show TATATATATATATGAAAATATATATATATGAAAATATATATATAAATATA TATATGAAAATATATATAAATATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02630.hp1 others(3): Show HG01884.hp1 HG02109.hp2 HG02630.hp1 HG03139.hp2 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0092 others(3): Show a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0114 a0001c0001t0008g0146	6	344	0.0174	-80	c.-21 others(97): Show c.-218-266_-218-187delGAAAATATATATATATGAAAATATATAT ATAAATATATATATGAAAATATATATAAATATATATATGAATATATATAT AT	LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LBHD2_chr14_103079210_103095027	103093720	AGGACAGT others(73): Show AGGACAGTGGGTGCATGGGGCCGTCCCTGCCCTCAGTCCTAGGATGCTGG TGCACCGGCCTGTCTCTGCCCTCAGCCCTAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0008	1	432	0.0023	-80	c.39 others(91): Show c.3924_*4003delGGACAGTGGGTGCATGGGGCCGTCCCTGCCCTCA GTCCTAGGATGCTGGTGCACCGGCCTGTCTCTGCCCTCAGCCCTAG	LBHD2	ENSG00000283071.1	transcript	ENST00000634353.1	protein_coding		3694		chr14	TogoVar
LCN9_chr9_135658309_135671961	135670107	ACCAGGAT others(73): Show ACCAGGATGTGGGGCTCAATCCCAGGGTTGCCCTTTGCACAGCTTGTAAA TGGCTGAGGGGGATTCCAAGGGTAGCTGTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	424	0.0024	-80	c.42 others(91): Show c.4257_*4336delCCAGGATGTGGGGCTCAATCCCAGGGTTGCCCTT TGCACAGCTTGTAAATGGCTGAGGGGGATTCCAAGGGTAGCTGTGG	LCN9	ENSG00000148386.10	transcript	ENST00000619315.2	protein_coding		3147		chr9	TogoVar
LEF1_chr4_108042548_108173932	108077455	AGTCTGGG others(73): Show AGTCTGGGAAGTGAGGGGCGCCTCTGCCCGGCTGCCGCCCCGTCTGGGAA GTGAGGGGCGCCTCTGCCCGGCTGCCGCCCC	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02976.hp1 HG02886.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0025 a0001c0001t0024 a0001c0001t0025	a0001c0001t0024g0263 a0001c0001t0025g0262 a0001c0001t0024g0263 a0001c0001t0025g0262	2	264	0.0076	-80	c.100 others(97): Show c.1008+685_1008+764delGGGGCGGCAGCCGGGCAGAGGCGCCCCT CACTTCCCAGACGGGGCGGCAGCCGGGCAGAGGCGCCCCTCACTTCCCAG AC	LEF1	ENSG00000138795.10	transcript	ENST00000265165.6	protein_coding	8/11			chr4	TogoVar
LGALSL_chr2_64449162_64466381	64463812	CCCAACCT others(73): Show CCCAACCTAGAGAGCAGAGGAAGAAATAGCCACTGACTCTCTTGCTTTGA TACGCCCTTCCATCTCCCAGGGAAAGATGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	422	0.0024	-80	c.53 others(91): Show c.5385_*5464delCCAACCTAGAGAGCAGAGGAAGAAATAGCCACTG ACTCTCTTGCTTTGATACGCCCTTCCATCTCCCAGGGAAAGATGGT	LGALSL	ENSG00000119862.13	transcript	ENST00000238875.10	protein_coding		2432		chr2	TogoVar
LHFPL6_chr13_39337892_39608193	39352861	ATGTGTAT others(73): Show ATGTGTATATATATATATAAATGTATATATATGTGTATATATATATAAAT GTATATATATATAAATGTATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02572.hp1 HG02647.hp2 others(3): Show HG01934.hp2 HG02572.hp1 HG02647.hp2 HG02970.hp2 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0003	a0001c0001t0001g0172 a0001c0001t0003g0037 a0001c0001t0003g0128 others(3): Show a0001c0001t0001g0172 a0001c0001t0003g0037 a0001c0001t0003g0128 a0001c0001t0003g0132 a0001c0001t0006g0130 a0001c0002t0003g0020	6	242	0.0248	-80	c.485 others(97): Show c.485-8887_485-8808delCACACATATATATACATTTATATATATA TACATTTATATATATATACACATATATATACATTTATATATATATATACA CA	LHFPL6	ENSG00000183722.9	transcript	ENST00000379589.4	protein_coding	3/3			chr13	TogoVar
LLGL2_chr17_75520697_75580209	75558806	GCCTCCTC others(73): Show GCCTCCTCCATCCACACCACGCCTCCTCCATCCGCACCCCACCTCCTCCA TCCGCACCCCGCCTCCTCCATCCGCACCCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(235): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03017.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0003 others(19): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0013 a0016 a0017 a0021 a0023 a0024 a0025 a0028 a0029 a0030 a0031 a0032 a0033	a0001c0001 a0001c0023 a0001c0029 others(26): Show a0001c0001 a0001c0023 a0001c0029 a0002c0006 a0003c0002 a0003c0021 a0003c0054 a0004c0005 a0004c0018 a0004c0050 a0005c0009 a0006c0008 a0006c0036 a0007c0010 a0008c0044 a0011c0020 a0013c0016 a0016c0051 a0017c0053 a0021c0032 a0023c0031 a0024c0035 a0025c0025 a0028c0056 a0029c0034 a0030c0052 a0031c0026 a0032c0030 a0033c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0023t0002 a0001c0029t0001 a0002c0006t0003 a0002c0006t0005 a0003c0002t0001 a0003c0002t0002 a0003c0021t0002 a0003c0054t0001 a0004c0005t0004 a0004c0005t0007 a0004c0018t0005 a0004c0050t0006 a0005c0009t0002 a0005c0009t0004 a0005c0009t0007 a0006c0008t0001 a0006c0036t0001 a0007c0010t0002 a0008c0044t0003 a0011c0020t0003 a0013c0016t0003 a0016c0051t0002 a0017c0053t0002 a0021c0032t0002 a0023c0031t0001 a0024c0035t0001 a0025c0025t0007 a0028c0056t0001 a0029c0034t0001 a0030c0052t0002 a0031c0026t0001 a0032c0030t0001 a0033c0033t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0028 others(228): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0301 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0224 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0253 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0293 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0354 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0362 a0001c0001t0008g0041 a0001c0001t0009g0142 a0001c0023t0002g0229 a0001c0029t0001g0048 a0002c0006t0003g0025 a0002c0006t0005g0112 a0003c0002t0001g0053 a0003c0002t0001g0083 a0003c0002t0001g0102 a0003c0002t0001g0170 a0003c0002t0001g0171 a0003c0002t0002g0001 a0003c0002t0002g0008 a0003c0002t0002g0009 a0003c0002t0002g0010 a0003c0002t0002g0011 a0003c0002t0002g0050 a0003c0002t0002g0051 a0003c0002t0002g0052 a0003c0002t0002g0189 a0003c0002t0002g0202 a0003c0002t0002g0206 a0003c0002t0002g0209 a0003c0002t0002g0213 a0003c0002t0002g0218 a0003c0002t0002g0222 a0003c0002t0002g0223 a0003c0002t0002g0225 a0003c0002t0002g0227 a0003c0002t0002g0231 a0003c0002t0002g0232 a0003c0002t0002g0233 a0003c0002t0002g0234 a0003c0002t0002g0235 a0003c0002t0002g0236 a0003c0002t0002g0237 a0003c0002t0002g0238 a0003c0002t0002g0239 a0003c0002t0002g0252 a0003c0002t0002g0254 a0003c0002t0002g0255 a0003c0002t0002g0257 a0003c0002t0002g0258 a0003c0002t0002g0260 a0003c0002t0002g0261 a0003c0002t0002g0262 a0003c0002t0002g0263 a0003c0002t0002g0264 a0003c0002t0002g0265 a0003c0002t0002g0266 a0003c0002t0002g0267 a0003c0002t0002g0268 a0003c0002t0002g0269 a0003c0002t0002g0272 a0003c0002t0002g0274 a0003c0002t0002g0275 a0003c0002t0002g0279 a0003c0002t0002g0280 a0003c0002t0002g0281 a0003c0002t0002g0288 a0003c0002t0002g0289 a0003c0002t0002g0291 a0003c0002t0002g0292 a0003c0002t0002g0294 a0003c0002t0002g0295 a0003c0002t0002g0297 a0003c0002t0002g0314 a0003c0002t0002g0343 a0003c0021t0002g0277 a0003c0054t0001g0107 a0004c0005t0004g0273 a0004c0005t0004g0298 a0004c0005t0004g0302 a0004c0005t0004g0303 a0004c0005t0004g0304 a0004c0005t0004g0305 a0004c0005t0004g0306 a0004c0005t0004g0307 a0004c0005t0004g0308 a0004c0005t0004g0355 a0004c0005t0004g0356 a0004c0005t0004g0359 a0004c0005t0004g0360 a0004c0005t0004g0361 a0004c0005t0007g0069 a0004c0005t0007g0106 a0004c0018t0005g0109 a0004c0018t0005g0190 a0004c0050t0006g0062 a0005c0009t0002g0204 a0005c0009t0004g0203 a0005c0009t0004g0322 a0005c0009t0007g0036 a0006c0008t0001g0002 a0006c0008t0001g0030 a0006c0008t0001g0032 a0006c0008t0001g0043 a0006c0008t0001g0046 a0006c0036t0001g0002 a0007c0010t0002g0012 a0007c0010t0002g0287 a0007c0010t0002g0296 a0008c0044t0003g0097 a0011c0020t0003g0064 a0011c0020t0003g0094 a0013c0016t0003g0056 a0013c0016t0003g0061 a0016c0051t0002g0009 a0017c0053t0002g0290 a0021c0032t0002g0055 a0023c0031t0001g0177 a0024c0035t0001g0038 a0025c0025t0007g0037 a0028c0056t0001g0136 a0029c0034t0001g0141 a0030c0052t0002g0001 a0031c0026t0001g0151 a0032c0030t0001g0138 a0033c0033t0001g0185	238	382	0.6230	-80	c.371 others(95): Show c.371+259_372-287delACCTCCTCCATCCACACCACGCCTCCTCCA TCCGCACCCCACCTCCTCCATCCGCACCCCGCCTCCTCCATCCGCACCCC	LLGL2	ENSG00000073350.14	transcript	ENST00000392550.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr17	TogoVar
LMF1_chr16_848634_975984	953360	CACGGACC others(73): Show CACGGACCCCAAACCAGCCTCCTACACGTCCACACAGACACCCACCCCAA ACCAGCCTCCTACACGTTCACACAGACACGG	C C	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19009.hp2 NA18975.hp2 NA19009.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0180 a0001c0003t0001g0176 a0001c0003t0001g0180	2	294	0.0068	-80	c.503 others(95): Show c.503+917_503+996delCCGTGTCTGTGTGAACGTGTAGGAGGCTGG TTTGGGGTGGGTGTCTGTGTGGACGTGTAGGAGGCTGGTTTGGGGTCCGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LMF1_chr16_848634_975984	953723	ACACCCAC others(73): Show ACACCCACCCCAAACCAGCCTCCTACATGTCCACACAGACACCCACCCCA AACCAGCCTCCTACATGTCCACACAGACACC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00738.hp1 HG01261.hp1 others(1): Show HG00621.hp1 HG00738.hp1 HG01261.hp1 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0001 a0002c0007t0001 a0001c0001t0001 a0002c0007t0001	a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0001t0001g0222 others(1): Show a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0001t0001g0222 a0002c0007t0001g0142	4	294	0.0136	-80	c.503 others(95): Show c.503+554_503+633delGGTGTCTGTGTGGACATGTAGGAGGCTGGT TTGGGGTGGGTGTCTGTGTGGACATGTAGGAGGCTGGTTTGGGGTGGGTG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	2/10			chr16	TogoVar
LOC112267897_chr13_63741741_63753176	63741836	GGGGCTGG others(73): Show GGGGCTGGCTCTCAGTCCCTTCCTCGCGGGGGGTGCCTCCCGCCTCTGCG ATGGGGGTCCTAAGAGCCAGGGGGGGAAGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp1 others(92): Show HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG01070.hp2 HG01123.hp1 HG01192.hp2 HG01346.hp2 HG01433.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02074.hp2 HG02083.hp2 HG02155.hp2 HG02165.hp1 HG02683.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA19004.hp2 NA19005.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA20129.hp2	a0001 a0015 a0001 a0015	a0001c0001 a0001c0013 a0015c0012 a0001c0001 a0001c0013 a0015c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0013t0001 a0015c0012t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0008g0000 others(3): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0008g0000 a0001c0001t0012g0000 a0001c0013t0001g0000 a0015c0012t0001g0000	95	426	0.2230	-80	c.-49 others(91): Show c.-4964_-4885delGGGCTGGCTCTCAGTCCCTTCCTCGCGGGGGGTG CCTCCCGCCTCTGCGATGGGGGTCCTAAGAGCCAGGGGGGGAAGAC	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding		4904		chr13	TogoVar
LOC112267897_chr13_63741741_63753176	63741842	GGCTCTCA others(73): Show GGCTCTCAGTCCCTTCCTCGCGGGGGGTGCCTCCCGCCTCTGCGATGGGG GTCCTAAGAGCCAGGGGGGGAAGACGGGCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	426	0.0024	-80	c.-49 others(91): Show c.-4958_-4879delGCTCTCAGTCCCTTCCTCGCGGGGGGTGCCTCCC GCCTCTGCGATGGGGGTCCTAAGAGCCAGGGGGGGAAGACGGGCTC	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding		4898		chr13	TogoVar
LOC112267897_chr13_63741741_63753176	63741856	TCCTCGCG others(73): Show TCCTCGCGGGGGGTGCCTCCCGCCTCTGCGATGGGGGTCCTAAGAGCCAG GGGGGGAAGACGGGCTCGCTCTCAGTCGCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0018 a0004c0008t0018	a0004c0008t0018g0000 a0004c0008t0018g0000	1	426	0.0024	-80	c.-49 others(91): Show c.-4944_-4865delCCTCGCGGGGGGTGCCTCCCGCCTCTGCGATGGG GGTCCTAAGAGCCAGGGGGGGAAGACGGGCTCGCTCTCAGTCGCCG	LOC112267897	ENSG00000237378.3	transcript	ENST00000611641.1	protein_coding		4884		chr13	TogoVar
LOC128462377_chr16_89312046_89423292	89323525	AGGGCAGG others(73): Show AGGGCAGGGGGGCTGAGCCGAGGGCAGGGGGTCTGAGCTAAGGGCACGGG GGCTAAGCCCAGGGCAGGGGGGCTGAGCCCG	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01346.hp1 HG01515.hp2 others(3): Show HG01256.hp1 HG01346.hp1 HG01515.hp2 HG01517.hp1 NA19087.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0132 a0001c0001t0001g0173	6	366	0.0164	-80	c.10- others(95): Show c.10-6530_10-6451delCGGGCTCAGCCCCCCTGCCCTGGGCTTAGC CCCCGTGCCCTTAGCTCAGACCCCCTGCCCTCGGCTCAGCCCCCCTGCCC	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11493824	AGGGGCAG others(73): Show AGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTG GCGTGGGGGGCGGGGCAGTGGCGTGGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG03704.hp1 NA18970.hp2 NA18980.hp2 HG03704.hp1 NA18970.hp2 NA18980.hp2	a0001 a0179 a0214 a0001 a0179 a0214	a0001c0003 a0179c0164 a0214c0094 a0001c0003 a0179c0164 a0214c0094	a0001c0003t0001 a0179c0164t0004 a0214c0094t0001 a0001c0003t0001 a0179c0164t0004 a0214c0094t0001	a0001c0003t0001g0240 a0179c0164t0004g0178 a0214c0094t0001g0111 a0001c0003t0001g0240 a0179c0164t0004g0178 a0214c0094t0001g0111	3	310	0.0097	-80	c.143 others(96): Show c.1432-108_1432-29delGCCCCCCACGCCACTGCCCCGCCCCCCAC GCCACTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCC C	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11493999	GGGGGCGG others(73): Show GGGGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGGGGGGCGGGG CAGTGGCGTGGGGGGCGGGGCAGTGGCGTGA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18975.hp1 NA19030.hp1 HG01884.hp1 NA18975.hp1 NA19030.hp1	a0078 a0215 a0229 a0078 a0215 a0229	a0078c0265 a0215c0137 a0229c0192 a0078c0265 a0215c0137 a0229c0192	a0078c0265t0006 a0215c0137t0003 a0229c0192t0007 a0078c0265t0006 a0215c0137t0003 a0229c0192t0007	a0078c0265t0006g0165 a0215c0137t0003g0125 a0229c0192t0007g0026 a0078c0265t0006g0165 a0215c0137t0003g0125 a0229c0192t0007g0026	3	310	0.0097	-80	c.143 others(97): Show c.1432-283_1432-204delTCACGCCACTGCCCCGCCCCCCACGCCA CTGCCCCGCCCCCCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCGCC CC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LOC400499_chr16_11367015_11532247	11494041	GGGCGGGG others(73): Show GGGCGGGGCAGTGGCGTGGGGGGCGGGGCAGTGGCGTGAGGGGCGGGGCA GTGGCGTGGGGAGGGGCAGTGGCGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0004 a0004	a0004c0148 a0004c0148	a0004c0148t0001 a0004c0148t0001	a0004c0148t0001g0217 a0004c0148t0001g0217	1	310	0.0032	-80	c.143 others(97): Show c.1432-325_1432-246delTCCCCCACGCCACTGCCCCTCCCCACGC CACTGCCCCGCCCCTCACGCCACTGCCCCGCCCCCCACGCCACTGCCCCG CC	LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	11/66			chr16	TogoVar
LPCAT1_chr5_1456427_1528960	1459128	GTAAGCCT others(73): Show GTAAGCCTCAGCATGAGTGCATGTGAGCATGTGTACATGTGTAAGCCTCA GCATGAGTGCATGTGAGCATGTGTGTACATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 NA18953.hp1 HG01975.hp2 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0015 a0001c0003t0006 a0001c0002t0015 a0001c0003t0006	a0001c0002t0015g0298 a0001c0003t0006g0152 a0001c0002t0015g0298 a0001c0003t0006g0152	2	386	0.0052	-80	c.44 others(91): Show c.4443_*4522delTATGTACACACATGCTCACATGCACTCATGCTGA GGCTTACACATGTACACATGCTCACATGCACTCATGCTGAGGCTTA	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding		2298		chr5	TogoVar
LPCAT1_chr5_1456427_1528960	1459156	ATGTGTAC others(73): Show ATGTGTACATGTGTAAGCCTCAGCATGAGTGCATGTGAGCATGTGTGTAC ATATGTAAGCCTCAGCATGAGTGCATGTGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG03492.hp1 HG03704.hp1 others(2): Show HG02735.hp2 HG03492.hp1 HG03704.hp1 HG03942.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0014 a0001c0002t0001 a0001c0003t0014	a0001c0002t0001g0083 a0001c0002t0001g0202 a0001c0002t0001g0218 others(2): Show a0001c0002t0001g0083 a0001c0002t0001g0202 a0001c0002t0001g0218 a0001c0003t0014g0016 a0001c0003t0014g0017	5	386	0.0130	-80	c.44 others(91): Show c.4415_*4494delCTCACATGCACTCATGCTGAGGCTTACATATGTA CACACATGCTCACATGCACTCATGCTGAGGCTTACACATGTACACA	LPCAT1	ENSG00000153395.10	transcript	ENST00000283415.4	protein_coding		2270		chr5	TogoVar
LRBA_chr4_150259435_151020284	150639739	ATATATAT others(73): Show ATATATATATATATATATATATATATATATATATATATATATATGTGTGT GTGTATATATATATATATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0003 a0003c0023t0003	a0003c0023t0003g0069 a0003c0023t0003g0069	1	180	0.0056	-80	c.592 others(101): Show c.5922-40688_5922-40609delCACACACACACACATATATATATA TATACACACACACATATATATATATATATATATATATATATATATATATA TATATA	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LRRC28_chr15_99246481_99395729	99393752	AAAAGCTG others(73): Show AAAAGCTGGTTCTTAGAAAAAGTCAATAAAGTTGACAAACCCTTAGGCAG CCTAGAAAGAAAAACAGAGAAAATCAAACCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0220 a0001c0001t0220	a0001c0001t0220g0265 a0001c0001t0220g0265	1	332	0.0030	-80	c.76 others(91): Show c.7651_*7730delAAAGCTGGTTCTTAGAAAAAGTCAATAAAGTTGA CAAACCCTTAGGCAGCCTAGAAAGAAAAACAGAGAAAATCAAACCG	LRRC28	ENSG00000168904.15	transcript	ENST00000301981.8	protein_coding		3024		chr15	TogoVar
LRRC37A2_chr17_46507468_46560646	46558733	TTGAACAC others(73): Show TTGAACACCCTTGGATGCTGCTTTAAATGACTGATCCTCGATGCCTCCCT TCTAACTCACACTCCCCTATATCAATCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 NA19043.hp1 HG03041.hp1 NA19043.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0056 a0006c0006t0002g0057 a0006c0006t0002g0056 a0006c0006t0002g0057	2	109	0.0184	-80	c.31 others(91): Show c.3155_*3234delTGAACACCCTTGGATGCTGCTTTAAATGACTGAT CCTCGATGCCTCCCTTCTAACTCACACTCCCCTATATCAATCTCCC	LRRC37A2	ENSG00000238083.10	transcript	ENST00000576629.6	protein_coding		3088		chr17	TogoVar
LSG1_chr3_194635791_194677191	194645495	TACACACA others(73): Show TACACACACACACACACACACACACACACACACACAGACAGACACACACA CACACACACACACACACACACACACAGACAG	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0077 a0002c0006t0077	a0002c0006t0077g0066 a0002c0006t0077g0066	1	408	0.0025	-80	c.162 others(97): Show c.1623+589_1623+668delCTGTCTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTCTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	LSG1	ENSG00000041802.11	transcript	ENST00000265245.10	protein_coding	12/13			chr3	TogoVar
LSP1_chr11_1848084_1897263	1874208	TGGGGGCA others(73): Show TGGGGGCAGTGTTGGGGACAGTGAGGGCAGGCCGGGGACAGTGGGGGCAG GCTGGGGACAGTGGGGGCAGGCCGGGGACGG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01433.hp2 HG01943.hp1 others(22): Show HG01243.hp2 HG01433.hp2 HG01943.hp1 HG02132.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG02615.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG04115.hp1 NA18939.hp2 NA18954.hp2 NA18960.hp2 NA19030.hp1 NA19056.hp2 NA19057.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0002c0001t0001 a0002c0001t0004 a0001c0003t0001 a0002c0001t0001 a0002c0001t0004	a0001c0003t0001g0285 a0002c0001t0001g0008 a0002c0001t0001g0029 others(17): Show a0001c0003t0001g0285 a0002c0001t0001g0008 a0002c0001t0001g0029 a0002c0001t0001g0075 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0197 a0002c0001t0004g0030 a0002c0001t0004g0190	25	360	0.0694	-80	c.54- others(95): Show c.54-5809_54-5730delGCCGGGGACGGGGGGGCAGTGTTGGGGACA GTGAGGGCAGGCCGGGGACAGTGGGGGCAGGCTGGGGACAGTGGGGGCAG	LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
MAD1L1_chr7_1810795_2237945	2006547	GCACAGGA others(73): Show GCACAGGAGAGACGGGACATCACTAAACCCGCACGGCCCAGCACAGAAGA GAGAGGACATCATTAAACCCGCACAGCCCAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	264	0.0038	-80	c.136 others(99): Show c.1360-4506_1360-4427delTTGGGCTGTGCGGGTTTAATGATGTC CTCTCTCTTCTGTGCTGGGCCGTGCGGGTTTAGTGATGTCCCGTCTCTCC TGTG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	13/18			chr7	TogoVar
MAFA_chr8_143423064_143435732	143425225	GGGGTCCA others(73): Show GGGGTCCAGGTGGGCTGTCGGGCACAGACGTGTGTGTGCGTGGGGTCCAG GTGGGCTGCGGGCACAGACGTGTGTGTGCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA19086.hp2 NA18991.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	446	0.0045	-80	c.40 others(91): Show c.4040_*4119delACGCACACACACGTCTGTGCCCGCAGCCCACCTG GACCCCACGCACACACACGTCTGTGCCCGACAGCCCACCTGGACCC	MAFA	ENSG00000182759.4	transcript	ENST00000333480.3	protein_coding		2838		chr8	TogoVar
MAGI2_chr7_78012055_79458667	79324629	TTATATAT others(73): Show TTATATATATATAAAATATATATATATTATATATATATAAAATATATATA TATTATATATATATAAAATATATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG00639.hp2 others(11): Show HG00140.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01261.hp1 HG03225.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0001c0014 a0001c0015	a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 others(6): Show a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0009t0001 a0001c0010t0002 a0001c0014t0001 a0001c0015t0001	a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0002t0001g0024 others(11): Show a0001c0001t0002g0020 a0001c0001t0002g0029 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0003t0002g0004 a0001c0003t0002g0012 a0001c0003t0006g0032 a0001c0004t0001g0031 a0001c0009t0001g0019 a0001c0010t0002g0021 a0001c0014t0001g0030 a0001c0015t0001g0027	14	40	0.3500	-80	c.301 others(101): Show c.301+128311_301+128390delTAATATATATATATTTTATATATA TATAATATATATATATTTTATATATATATAATATATATATATTTTATATA TATATA	MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21			chr7	TogoVar
MAN1A2_chr1_117362449_117533872	117430354	ACGCTCCT others(73): Show ACGCTCCTCACTTCCCAGATGGGGTGGCTGCCGGGCGGAGAGGCTCCTCA CTTCTCAGACGGGGCAGCTGCCGGGCGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp1 HG01074.hp1 others(16): Show HG00099.hp1 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp1 HG02004.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp2 HG03516.hp1 HG03704.hp1 HG04184.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 others(7): Show a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0001t0031 a0001c0001t0032 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072	a0001c0001t0012g0047 a0001c0001t0012g0049 a0001c0001t0012g0050 others(16): Show a0001c0001t0012g0047 a0001c0001t0012g0049 a0001c0001t0012g0050 a0001c0001t0012g0054 a0001c0001t0019g0032 a0001c0001t0019g0033 a0001c0001t0019g0034 a0001c0001t0020g0030 a0001c0001t0020g0031 a0001c0001t0020g0042 a0001c0001t0031g0037 a0001c0001t0031g0046 a0001c0001t0032g0035 a0001c0001t0032g0036 a0001c0001t0067g0043 a0001c0001t0068g0052 a0001c0001t0070g0048 a0001c0001t0071g0051 a0001c0001t0072g0053	19	370	0.0514	-80	c.855 others(97): Show c.855+9706_855+9785delCGCTCCTCACTTCCCAGATGGGGTGGCT GCCGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCGGA GG	MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12			chr1	TogoVar
MAP3K4_chr6_160986769_161122380	161000987	ATATTATA others(73): Show ATATTATATATTATAATATACACATATGTATATAATATATATTATATATT ATAATATACACATATGTATATAATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	1	342	0.0029	-80	c.152 others(97): Show c.152+8905_152+8984delTATTATATATTATAATATACACATATGT ATATAATATATATTATATATTATAATATACACATATGTATATAATATATA TT	MAP3K4	ENSG00000085511.20	transcript	ENST00000392142.9	protein_coding	1/26			chr6	TogoVar
MAPK8IP3_chr16_1701195_1775351	1732638	AGAGCACC others(73): Show AGAGCACCATGAGAACTACGCCAGGGCGTGTGGATGCCAGCTTGCCCCGA GAACAGGTGGTGCCAGCCATCCGCCCACCTG	A A	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18970.hp2 NA19003.hp2 others(1): Show NA18966.hp1 NA18970.hp2 NA19003.hp2 NA19068.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0237 a0001c0003t0003g0238 a0001c0003t0003g0254 others(1): Show a0001c0003t0003g0237 a0001c0003t0003g0238 a0001c0003t0003g0254 a0001c0003t0003g0283	4	330	0.0121	-80	c.602 others(97): Show c.602+3114_602+3193delAGGTGGTGCCAGCCATCCGCCCACCTGG AGCACCATGAGAACTACGCCAGGGCGTGTGGATGCCAGCTTGCCCCGAGA AC	MAPK8IP3	ENSG00000138834.15	transcript	ENST00000610761.2	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr16	TogoVar
MAPK9_chr5_180228143_180297083	180296875	ACACACAA others(73): Show ACACACAAGGAAGTACAACACACACGTAAGGAAGTACACACACGGAAGTA CCCCCCCACACACACACACGGAAGTACTTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01074.hp1 others(8): Show HG00642.hp1 HG00733.hp1 HG01074.hp1 HG02004.hp2 HG02258.hp2 HG04115.hp2 NA18961.hp2 NA18977.hp2 NA18984.hp2 NA18992.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0024	a0001c0001t0001g0130 a0001c0001t0001g0275 a0001c0001t0004g0018 others(7): Show a0001c0001t0001g0130 a0001c0001t0001g0275 a0001c0001t0004g0018 a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0005g0300 a0001c0001t0005g0305 a0001c0001t0005g0310 a0001c0001t0018g0215 a0001c0001t0024g0266	11	372	0.0296	-80	c.-51 others(91): Show c.-5155_-5076delGTAAGTACTTCCGTGTGTGTGTGTGGGGGGGTAC TTCCGTGTGTGTACTTCCTTACGTGTGTGTTGTACTTCCTTGTGTG	MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding		4793		chr5	TogoVar
MBD3L2_chr19_7044321_7056735	7053460	TATTATAA others(73): Show TATTATAATATAATTTATATGTTATATAATTATATTATATATAATATAAT TTATATGTTATATAATTATATTATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG03041.hp2 HG01109.hp2 HG01891.hp1 HG03041.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0022 a0002c0004t0003g0041 a0002c0004t0003g0022 a0002c0004t0003g0041	3	258	0.0116	-80	c.18 others(91): Show c.1839_*1918delATTATAATATAATTTATATGTTATATAATTATAT TATATATAATATAATTTATATGTTATATAATTATATTATATATATA	MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding		1726		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7053460	TATTATAA others(73): Show TATTATAATATAATTTATATGTTATATAATTATATTATATATAATATAAT TTATATGTTATATAATTATATTATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG01109.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0018 a0002c0002t0003g0018	2	288	0.0069	-80	c.27 others(91): Show c.2782_*2861delTATATATATAATATAATTATATAACATATAAATT ATATTATATATAATATAATTATATAACATATAAATTATATTATAAT	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		2746		chr19	TogoVar
MC1R_chr16_89913862_89925972	89914601	GTGTGTGT others(73): Show GTGTGTGTGTGTGTGCCTGTGTGTGGGTGCACATTTGTGTGTGTGCCTGT GTGTGTGTGCCTGTGTGTGGGGGTGCACATT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG02109.hp1 others(4): Show HG01243.hp2 HG01884.hp1 HG02109.hp1 HG02486.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	7	396	0.0177	-80	c.-46 others(91): Show c.-4657_-4578delTGTGTGTGTGTGTGCCTGTGTGTGGGTGCACATT TGTGTGTGTGCCTGTGTGTGTGTGCCTGTGTGTGGGGGTGCACATT	MC1R	ENSG00000258839.4	transcript	ENST00000555147.2	protein_coding		4260		chr16	TogoVar
MCTP2_chr15_94226561_94488952	94243864	CATATGTG others(73): Show CATATGTGTATATATTTATGTACACATATATGTATACACATACATATGTG TATATATTTACACATATGTGTACACATACAT	C C	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0215 a0001c0002t0001g0215	1	276	0.0036	-80	c.-66 others(99): Show c.-66+12218_-66+12297delTGTACACATATATGTATACACATACA TATGTGTATATATTTACACATATGTGTACACATACATATATGTGTATATA TTTA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MDFI_chr6_41633468_41659244	41655993	GTCCAGGT others(73): Show GTCCAGGTGGGCAGGAAGGCCTGCTCCTGGCCCTCCCTGCTCCGCAGGGC TGTGGCAGGAAGAGGCGCCTCTGCAATCCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0245 a0001c0002t0001g0245	1	462	0.0022	-80	c.24 others(91): Show c.2419_*2498delTCCAGGTGGGCAGGAAGGCCTGCTCCTGGCCCTC CCTGCTCCGCAGGGCTGTGGCAGGAAGAGGCGCCTCTGCAATCCAA	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1750		chr6	TogoVar
MECOM_chr3_169078507_169668712	169472500	AAGGAAAG others(73): Show AAGGAAAGGAAAGGAAAGGAAAGAAAAGAAAAGAAAAGGAAAGGAAAGGA AAAGAAAAGAGAGGAGAGGAGAGGAGAGGAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02080.hp2 NA19088.hp2 HG00408.hp2 HG02080.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0007 a0001c0003t0005 a0001c0001t0004 a0001c0001t0007 a0001c0003t0005	a0001c0001t0004g0072 a0001c0001t0007g0130 a0001c0003t0005g0098 a0001c0001t0004g0072 a0001c0001t0007g0130 a0001c0003t0005g0098	3	160	0.0188	-80	c.38- others(97): Show c.38-91056_38-90977delCTCCTCTCCTCTCCTCTCCTCTCTTTTC TTTTCCTTTCCTTTCCTTTTCTTTTCTTTTCTTTCCTTTCCTTTCCTTTC CT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169472533	AAAAGGAA others(73): Show AAAAGGAAAGGAAAGGAAAAGAAAAGAGAGGAGAGGAGAGGAGAGGAGAG GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01081.hp2 HG02015.hp2 others(2): Show HG00544.hp1 HG01081.hp2 HG02015.hp2 HG02809.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0033 a0001c0001t0045 others(2): Show a0001c0001t0004 a0001c0001t0033 a0001c0001t0045 a0002c0002t0002 a0002c0002t0042	a0001c0001t0004g0060 a0001c0001t0033g0018 a0001c0001t0045g0142 others(2): Show a0001c0001t0004g0060 a0001c0001t0033g0018 a0001c0001t0045g0142 a0002c0002t0002g0086 a0002c0002t0042g0117	5	160	0.0313	-80	c.38- others(97): Show c.38-91089_38-91010delCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTCTCCTCTCCTCTCCTCTCCTCTCTTTTCTTTTCCTTTCCTTTCCT TT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MECOM_chr3_169078507_169668712	169472548	GAAAAGAA others(73): Show GAAAAGAAAAGAGAGGAGAGGAGAGGAGAGGAGAGGAAAGGAAAGGAAAG GAAAGGAAAGGAAAGGAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02922.hp1 HG03831.hp1 others(2): Show HG02132.hp1 HG02922.hp1 HG03831.hp1 NA18951.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0020 a0001c0004t0006	a0001c0001t0002g0092 a0001c0001t0004g0063 a0001c0001t0005g0099 others(2): Show a0001c0001t0002g0092 a0001c0001t0004g0063 a0001c0001t0005g0099 a0001c0001t0020g0128 a0001c0004t0006g0120	5	160	0.0313	-80	c.38- others(97): Show c.38-91104_38-91025delTCTTTTCTTTTCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTCTCCTCTCCTCTCCTCTCCTCTCTTTTCTT TT	MECOM	ENSG00000085276.19	transcript	ENST00000651503.2	protein_coding	1/16			chr3	TogoVar
MED12L_chr3_151080664_151441653	151368624	TATTTTAT others(73): Show TATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT CATGTCATTTCATTTTATTTCATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0249 a0001c0002t0006g0249	1	280	0.0036	-80	c.355 others(97): Show c.3550+378_3550+457delTATTTCATTTCATTTCATTTCATTTCAT TTCATTTCATTTCATTTCATGTCATTTCATTTTATTTCATTTCATTTCAT TT	MED12L	ENSG00000144893.13	transcript	ENST00000687756.1	protein_coding	25/44		INFO_REALIGN_3_PRIME	chr3	TogoVar
MGAM_chr7_141990879_142111747	142042285	TATATAAC others(73): Show TATATAACATATATTATATATACATATAATATATAACATATATTATATAT ACATATAATATATAACATATATTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00597.hp2 others(112): Show HG00099.hp2 HG00280.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp2 HG03139.hp1 HG03490.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18969.hp2 NA18978.hp2 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19082.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(20): Show a0001 a0002 a0003 a0005 a0006 a0009 a0010 a0014 a0020 a0022 a0024 a0026 a0027 a0028 a0030 a0032 a0034 a0035 a0057 a0058 a0067 a0068 a0069	a0001c0001 a0001c0004 a0001c0005 others(47): Show a0001c0001 a0001c0004 a0001c0005 a0001c0010 a0001c0011 a0001c0015 a0001c0023 a0001c0024 a0001c0026 a0001c0028 a0001c0031 a0001c0069 a0001c0070 a0001c0071 a0001c0074 a0001c0083 a0001c0089 a0001c0092 a0001c0111 a0002c0002 a0002c0009 a0002c0013 a0002c0067 a0002c0072 a0003c0003 a0003c0006 a0003c0012 a0003c0027 a0003c0061 a0005c0053 a0006c0064 a0009c0139 a0010c0068 a0014c0035 a0020c0075 a0020c0104 a0022c0044 a0024c0029 a0026c0066 a0027c0097 a0028c0051 a0030c0047 a0032c0132 a0034c0060 a0035c0059 a0057c0049 a0058c0055 a0067c0086 a0068c0101 a0069c0096	a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 others(47): Show a0001c0001t0001 a0001c0004t0001 a0001c0005t0001 a0001c0010t0001 a0001c0011t0001 a0001c0015t0001 a0001c0023t0001 a0001c0024t0001 a0001c0026t0001 a0001c0028t0001 a0001c0031t0001 a0001c0069t0001 a0001c0070t0001 a0001c0071t0001 a0001c0074t0001 a0001c0083t0001 a0001c0089t0001 a0001c0092t0001 a0001c0111t0001 a0002c0002t0001 a0002c0009t0001 a0002c0013t0001 a0002c0067t0001 a0002c0072t0001 a0003c0003t0001 a0003c0006t0001 a0003c0012t0001 a0003c0027t0001 a0003c0061t0001 a0005c0053t0001 a0006c0064t0001 a0009c0139t0001 a0010c0068t0001 a0014c0035t0001 a0020c0075t0001 a0020c0104t0001 a0022c0044t0001 a0024c0029t0001 a0026c0066t0001 a0027c0097t0001 a0028c0051t0001 a0030c0047t0001 a0032c0132t0001 a0034c0060t0001 a0035c0059t0001 a0057c0049t0001 a0058c0055t0001 a0067c0086t0001 a0068c0101t0001 a0069c0096t0001	a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0130 others(111): Show a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0210 a0001c0001t0001g0245 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0004t0001g0048 a0001c0004t0001g0072 a0001c0004t0001g0094 a0001c0004t0001g0168 a0001c0004t0001g0170 a0001c0004t0001g0175 a0001c0004t0001g0176 a0001c0004t0001g0180 a0001c0004t0001g0229 a0001c0004t0001g0256 a0001c0005t0001g0045 a0001c0005t0001g0109 a0001c0005t0001g0111 a0001c0005t0001g0191 a0001c0005t0001g0211 a0001c0005t0001g0214 a0001c0005t0001g0258 a0001c0005t0001g0278 a0001c0010t0001g0110 a0001c0011t0001g0195 a0001c0011t0001g0208 a0001c0011t0001g0268 a0001c0015t0001g0198 a0001c0023t0001g0106 a0001c0023t0001g0179 a0001c0024t0001g0001 a0001c0026t0001g0105 a0001c0028t0001g0128 a0001c0028t0001g0129 a0001c0031t0001g0207 a0001c0069t0001g0161 a0001c0070t0001g0276 a0001c0071t0001g0163 a0001c0074t0001g0134 a0001c0083t0001g0290 a0001c0089t0001g0197 a0001c0092t0001g0220 a0001c0111t0001g0227 a0002c0002t0001g0067 a0002c0009t0001g0013 a0002c0009t0001g0135 a0002c0009t0001g0153 a0002c0009t0001g0162 a0002c0009t0001g0189 a0002c0013t0001g0052 a0002c0013t0001g0093 a0002c0013t0001g0103 a0002c0013t0001g0118 a0002c0067t0001g0030 a0002c0072t0001g0164 a0003c0003t0001g0050 a0003c0003t0001g0121 a0003c0003t0001g0124 a0003c0003t0001g0171 a0003c0003t0001g0183 a0003c0003t0001g0192 a0003c0003t0001g0194 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0209 a0003c0003t0001g0252 a0003c0003t0001g0263 a0003c0003t0001g0267 a0003c0006t0001g0155 a0003c0012t0001g0107 a0003c0012t0001g0177 a0003c0012t0001g0188 a0003c0012t0001g0212 a0003c0027t0001g0127 a0003c0027t0001g0132 a0003c0061t0001g0076 a0005c0053t0001g0181 a0006c0064t0001g0126 a0009c0139t0001g0070 a0010c0068t0001g0213 a0014c0035t0001g0041 a0020c0075t0001g0295 a0020c0104t0001g0049 a0022c0044t0001g0296 a0022c0044t0001g0297 a0024c0029t0001g0248 a0026c0066t0001g0313 a0027c0097t0001g0077 a0028c0051t0001g0182 a0030c0047t0001g0272 a0032c0132t0001g0150 a0034c0060t0001g0108 a0035c0059t0001g0009 a0057c0049t0001g0102 a0058c0055t0001g0186 a0067c0086t0001g0249 a0068c0101t0001g0275 a0069c0096t0001g0266	115	316	0.3639	-80	c.249 others(99): Show c.2498+1446_2498+1525delCATATATTATATATACATATAATATA TAACATATATTATATATACATATAATATATAACATATATTATATATACAT ATAA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MINK1_chr17_4828340_4903061	4873272	CACAATAG others(73): Show CACAATAGAATGTACCTGTGTATCCTTTAACATCCCCAATTCAACATTCA AACCCAGCCTGTTCTCCCACAGCACAGCATG	C C	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0280 a0002c0002t0015g0280	1	360	0.0028	-80	c.58- others(95): Show c.58-4824_58-4745delTTCTCCCACAGCACAGCATGACAATAGAAT GTACCTGTGTATCCTTTAACATCCCCAATTCAACATTCAAACCCAGCCTG	MINK1	ENSG00000141503.17	transcript	ENST00000355280.11	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr17	TogoVar

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