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
GPR157_chr1_9095305_9134102	9123240	ATTAATTT others(125): Show ATTAATTTAAATATATATTTAAATATATATATTTAAATATATATTTAAAT TAATATATATTTAATTTAAATATATATTAAAATATATATATTTAATTTAA ATATATATATTTAATTTAAATATATATTTAAAT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0028 a0004c0004t0001g0028	1	404	0.0025	-132	c.383 others(17): Show c.383+5273_383+5404del	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR157_chr1_9095305_9134102	9123242	TAATTTAA others(125): Show TAATTTAAATATATATTTAAATATATATATTTAAATATATATTTAAATTA ATATATATTTAATTTAAATATATATTAAAATATATATATTTAATTTAAAT ATATATATTTAATTTAAATATATATTTAAATTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02615.hp2 HG03041.hp1 others(6): Show HG00099.hp2 HG02615.hp2 HG03041.hp1 HG03453.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19067.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0088 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0088 a0001c0001t0091 a0001c0001t0095	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0008g0206 others(6): Show a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0008g0206 a0001c0001t0008g0207 a0001c0001t0008g0208 a0001c0001t0008g0209 a0001c0001t0088g0205 a0001c0001t0091g0210 a0001c0001t0095g0204	9	404	0.0223	-132	c.383 others(17): Show c.383+5271_383+5402del	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRHL1_chr2_9946693_10007277	9998755	CGTATATA others(125): Show CGTATATATATGTACACACATATATACGTATATATATGTACACACATATA TATACGTATATATATGTACACATATATATATACGTATATATATGTACACA TATATATACGTATATATATGTACACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	418	0.0024	-132	c.167 others(16): Show c.1678-209_1678-78del	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15			chr2	TogoVar
GTF2IRD1_chr7_74448906_74607605	74528800	TGGGTGGA others(125): Show TGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGAAAG GATGGATGGATGAATGGGCAGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGACGGACAACC	T T	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0110 a0002c0002t0003g0110	1	262	0.0038	-132	c.109 others(17): Show c.1091-923_1091-792del	GTF2IRD1	ENSG00000006704.11	transcript	ENST00000424337.7	protein_coding	8/26		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTPBP4_chr10_983434_1024932	1015362	CGGGGCTG others(125): Show CGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGTGGACCTGGGGTCCTGA GCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAGCCTGGGAGT GGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02723.hp2 others(6): Show HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02965.hp1 HG03098.hp1 HG03579.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0013 a0001c0002t0027 others(1): Show a0001c0002t0003 a0001c0002t0013 a0001c0002t0027 a0001c0002t0038	a0001c0002t0003g0019 a0001c0002t0003g0078 a0001c0002t0013g0020 others(4): Show a0001c0002t0003g0019 a0001c0002t0003g0078 a0001c0002t0013g0020 a0001c0002t0013g0021 a0001c0002t0013g0099 a0001c0002t0027g0104 a0001c0002t0038g0021	9	370	0.0243	-132	c.160 others(17): Show c.1609-358_1609-227del	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
H1-7_chr12_48323980_48335279	48332237	GTGGCCGG others(125): Show GTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGAC CCCCCCCCCCACCTCCCTCCCGGACGGGGCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	424	0.0024	-132	c.21 others(11): Show c.2179_*2310del	H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding		1959		chr12	TogoVar
IDI2_chr10_1013910_1030859	1015362	CGGGGCTG others(125): Show CGGGGCTGGGGTCCTGAGCTCTGAGCCTGGGAGTGGACCTGGGGTCCTGA GCGCTGAGCCTGGGAGTGGACCTGGGGTCCTGAGCGCTGAGCCTGGGAGT GGGGCTGGGGTCCTGAGCGCTGAGCCTGGGAGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG02723.hp2 others(6): Show HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp1 HG02965.hp1 HG03098.hp1 HG03579.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0002 a0001c0001t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0002g0127 a0001c0001t0002g0144 a0001c0001t0002g0178 others(5): Show a0001c0001t0002g0127 a0001c0001t0002g0144 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0002t0002g0027	9	434	0.0207	-132	c.40 others(11): Show c.4023_*4154del	IDI2	ENSG00000148377.6	transcript	ENST00000277517.2	protein_coding		3547		chr10	TogoVar
IL1RAPL1_chrX_28582446_29961718	29803206	CATGTATA others(125): Show CATGTATATATGTATACATATACACACATGTATATATGTATACATATACA CACATGTATATATGTATACATATACACACATGTATATATGTATACATATA CACACATGTATATATGTATACATGTATACACAT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp1 NA18906.hp1 HG02622.hp2 HG03098.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0119 a0001c0001t0002g0016 a0001c0001t0008g0060 a0001c0001t0001g0119 a0001c0001t0002g0016 a0001c0001t0008g0060	3	135	0.0222	-132	c.779 others(21): Show c.779-114239_779-114108del	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL32_chr16_3060640_3074530	3073857	AGGCAGGG others(125): Show AGGCAGGGATGGATGGATGGACAGATGCATGCACAGAGGCAGGAATGGAG AGACAGATGAGTGCAAACAGGTAGGGATGGATGGACAGGTGCCTACACAG AGGCAGGGATGAATGGATAGATGGATGCACAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG03239.hp1 HG02602.hp1 HG03239.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0106 a0003c0005t0001g0412 a0003c0005t0001g0106 a0003c0005t0001g0412	2	458	0.0044	-132	c.45 others(11): Show c.4503_*4634del	IL32	ENSG00000008517.19	transcript	ENST00000525643.7	protein_coding		4328		chr16	TogoVar
INPP4B_chr4_142018160_142851301	142245762	GTATATGT others(125): Show GTATATGTGTGTATATATATATGTGTGTATGTATACATATATATGTGTAT GTATACATATATGTGTATGTATACATATATATGTGTATGTATACATATAT GTGTATGTATACATATATATGTGTATGTATACA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG02895.hp1 others(2): Show HG02055.hp2 HG02258.hp2 HG02895.hp1 HG03453.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0085 a0001c0001t0002g0021 a0001c0001t0004g0086 others(2): Show a0001c0001t0001g0085 a0001c0001t0002g0021 a0001c0001t0004g0086 a0001c0001t0008g0020 a0001c0001t0008g0046	5	90	0.0556	-132	c.689 others(17): Show c.689-7883_689-7752del	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	11/25			chr4	TogoVar
IQCG_chr3_197884077_197964991	197907766	GGTCTGAA others(125): Show GGTCTGAAGAGCAACCCTTTCCAAGGCATCCTCCCAGATGAAGTTATCAC AGGGGTGACTGTACCAGGTCTGAAGAGCAACCCTTTCCAAGGCACCCTCC CAGATGAAGTTATCACAGGGGTGACTGTACCAC	G G	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	280	0.0036	-132	c.963 others(17): Show c.963+4777_963+4908del	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	9/11			chr3	TogoVar
ITIH5_chr10_7554270_7671966	7593373	CAGACTGC others(125): Show CAGACTGCAGCCACCCAGCCCCACTCACCCCTGCAGCCTGCAGCCACCCA GCCCCACTCACCCCTGCAGACTGCAGCCACCCAGCCCCACTCACCCCTGC AGCCTGCAGCCACCCAGCCCCACTCACCCCTGT	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0238 a0003c0002t0002g0238	1	342	0.0029	-132	c.940 others(17): Show c.940-7436_940-7305del	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
ITSN2_chr2_24197864_24365536	24251409	GTGTGTAT others(125): Show GTGTGTATATATATGTGTATATATATGTGTGTATATATATGTGTATATAT GTGTATATATATGTGTATATATATGTGTATATATATGTGTATATATATGT GTATATATATGTGTATATATATGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0005 a0002c0010t0005	a0002c0010t0005g0222 a0002c0010t0005g0222	1	224	0.0045	-132	c.312 others(17): Show c.3120+804_3120+935del	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	25/39			chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132160263	GGGGGGGC others(125): Show GGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGGGTCTATTCCTGTGTCTT ATTGAGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGA TGCTGGGGGGGGTCTATTCCTGTGTCTTATTGA	G G	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0045 a0004c0045	a0004c0045t0001 a0004c0045t0001	a0004c0045t0001g0090 a0004c0045t0001g0090	1	158	0.0063	-132	c.222 others(19): Show c.2221-2940_2221-2809del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JPH3_chr16_87597508_87703156	87681167	GCGGTGAT others(125): Show GCGGTGATGACAGTTCCGGGAGGTCAGGTGCACGCGGTGATGACAGTTCC GGGAGGTCAGGTGCGCGCGGTGATGACAGTTCCAGAAGGTCACGTGCGCG CGGTCGTGACAGTTCCAGAAGGTCAGGTGCGCA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0008 a0008	a0008c0043 a0008c0043	a0008c0043t0001 a0008c0043t0001	a0008c0043t0001g0112 a0008c0043t0001g0112	1	380	0.0026	-132	c.116 others(19): Show c.1161-2944_1161-2813del	JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
KBTBD11_chr8_1968677_2011936	1990800	GTGCTGCG others(125): Show GTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGG CGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGG TGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	389	0.0026	-132	c.-90 others(19): Show c.-908-9419_-908-9288del	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1990906	GGGGCCTT others(125): Show GGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCGGGGCCTTGGCGCCCTG TCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCG GGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG02976.hp2 others(1): Show HG00408.hp2 HG00438.hp2 HG02976.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0013g0006 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0013g0006	4	389	0.0103	-132	c.-90 others(19): Show c.-908-9320_-908-9189del	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1991004	CGGGGCCT others(125): Show CGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCCGGGCCTTGGCGCCCT GTCCGGGTAGATGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGC CGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA20300.hp2 HG03139.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	2	389	0.0051	-132	c.-90 others(19): Show c.-908-9270_-908-9139del	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNIP4_chr4_20723606_21953772	20932085	CAGTCTAA others(125): Show CAGTCTAATATTGTAGACTATAATAGTCTATAACAGTCTAATATTGTAGA CTATAATAGTCTATAACAGTCTAATATTGTAGACTATAATAGTCTATAAG AGTCTAATATTGTAGACTATAATAGTCTATAAG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp2 HG02897.hp1 others(3): Show HG02109.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03041.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014	a0001c0001t0001g0024 a0001c0001t0003g0002 a0001c0001t0007g0032 others(3): Show a0001c0001t0001g0024 a0001c0001t0003g0002 a0001c0001t0007g0032 a0001c0001t0009g0004 a0001c0001t0009g0057 a0001c0001t0014g0077	6	80	0.0750	-132	c.62- others(17): Show c.62-49508_62-49377del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KNDC1_chr10_133155219_133231412	133222444	GGCGTGTG others(125): Show GGCGTGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGTG TGTGTGTGTGTGTGTGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTG TGTGTGAGAGCCCATCCAGGCATGCTCTTCCCA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0002 a0002	a0002c0043 a0002c0043	a0002c0043t0002 a0002c0043t0002	a0002c0043t0002g0062 a0002c0043t0002g0062	1	332	0.0030	-132	c.501 others(19): Show c.5019-2213_5019-2082del	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
LILRA6_chr19_54231590_54247790	54233407	ATAGAACC others(125): Show ATAGAACCCCCACAGGACCTCCATAGGATCTCAATAGAACCCTCACAGGA CCTCCATAGGATCTCAGTAGAACCCCCACAGGACCTCCATAGGATCTCAA TAGAACCCTCACAGGACCTCCATAGGATCTCAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	450	0.0022	-132	c.54 others(11): Show c.5414_*5545del	LILRA6	ENSG00000244482.11	transcript	ENST00000396365.7	protein_coding		3182		chr19	TogoVar
LILRA6_chr19_54231590_54247790	54233539	GTAGAACC others(125): Show GTAGAACCCCCACAGGACCTCCATAGGATCTCAATAGAACCCCCACAGGA CCTCCATAGGATCTCAATAGAACCCCCACAGGACCTCCATAGGATCTCAA TAGGACATCCACAGGACCTCCATAGAATCTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	450	0.0022	-132	c.52 others(11): Show c.5282_*5413del	LILRA6	ENSG00000244482.11	transcript	ENST00000396365.7	protein_coding		3050		chr19	TogoVar
LMOD1_chr1_201891456_201951548	201924435	AGGAAGCA others(125): Show AGGAAGCAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGCAAG GAAGGAGGGAGGGAGGGAAGGAAGCAAGGAAGGAGGGAGGAAGGGAAGGA AGGAAGGAAGGAAGCAAGGAAGGAGGGAGGGAG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02145.hp2 HG02922.hp2 others(1): Show HG01109.hp1 HG02145.hp2 HG02922.hp2 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0020 a0001c0001t0001g0181 a0003c0003t0001g0021 others(1): Show a0001c0001t0001g0020 a0001c0001t0001g0181 a0003c0003t0001g0021 a0003c0003t0001g0126	4	400	0.0100	-132	c.261 others(19): Show c.261+21513_261+21644del	LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding	1/2			chr1	TogoVar
LRCH2_chrX_115105616_115239096	115125406	CATATATA others(125): Show CATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01074.hp1 HG01255.hp1 others(9): Show HG00597.hp1 HG01074.hp1 HG01255.hp1 HG01891.hp2 HG02055.hp1 HG02132.hp1 HG02723.hp2 HG02896.hp2 HG03041.hp2 HG03654.hp1 NA18962.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 others(9): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0055 a0001c0001t0001g0080 a0001c0001t0001g0093 a0001c0001t0001g0113 a0001c0001t0001g0142 a0001c0001t0001g0205 a0001c0001t0002g0040 a0001c0001t0006g0223	12	238	0.0504	-132	c.179 others(19): Show c.1791+1305_1792-1405del	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20			chrX	TogoVar
LRCH2_chrX_115105616_115239096	115125442	TATATATA others(125): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03927.hp1 HG01175.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0187 a0001c0001t0002g0188	2	238	0.0084	-132	c.179 others(19): Show c.1791+1269_1791+1400del	LRCH2	ENSG00000130224.15	transcript	ENST00000317135.13	protein_coding	16/20			chrX	TogoVar
LRFN2_chr6_40386591_40592364	40491696	GTGTTTCC others(125): Show GTGTTTCCCTCACTCTATTTTGCCGTGTGACTGTGGGTAGGTAGGCAGCT TACCCTCTCTGAGTGTCTGTTTCCCTCACTCTATTTTGCCGTGTGACTGT GGGTAGGTAGGCAGCTTACCCTCTCTGAGTGTC	G G	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	228	0.0044	-132	c.-18 others(19): Show c.-18-58697_-18-58566del	LRFN2	ENSG00000156564.10	transcript	ENST00000338305.7	protein_coding	1/2			chr6	TogoVar
LRRC27_chr10_132327193_132386508	132378935	GTTTCCGG others(125): Show GTTTCCGGTCACCTCCGTGTTCTCAGGGAGTGCGTGGTCTTGGATGCCAT CCTGCTCATCTCCAGCATTTCCTCTCACCTCCGTGTTCTCGGGGAGTGCG TGGTGTCAGATCCCATCCTGCTCATCTCCAGCA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0048 a0001c0001t0036g0048	1	290	0.0035	-132	c.36 others(11): Show c.3699_*3830del	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	11/11	3699	INFO_REALIGN_3_PRIME	chr10	TogoVar
MACROD1_chr11_63993558_64171113	64010792	ATGTTGGC others(125): Show ATGTTGGCTGGCATGTTGGTTGGGGTATTGGTTGGGGTGTTGGCTTGCAT GTTGGCTGGAGTGTTGGTTGGGGTGTTTGCTGGTGTATTGTTTGGGGTGT TGGCTGGCATGTTGGTTGGGGTGTTGGCCAGGG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02886.hp1 HG02895.hp1 others(4): Show HG01106.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0122 others(4): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0122 a0001c0002t0001g0150 a0001c0002t0001g0172 a0001c0002t0001g0181 a0001c0002t0001g0182	7	198	0.0354	-132	c.547 others(17): Show c.547+4328_547+4459del	MACROD1	ENSG00000133315.12	transcript	ENST00000255681.7	protein_coding	4/10			chr11	TogoVar
MAD1L1_chr7_1810795_2237945	1827445	GTCCTCCC others(125): Show GTCCTCCCCTCCTGAGCCCGTCGCGGGTGTGGGGGCCTCCCCTCCTGAGC CCGTCCCGGGTGTGGGGTCCTCCCCTCCTGAGCCCGTCCCGGGTGTGGGG GCCTCCCCTCCTGAGCCCGTCCCGGGTGTGGCA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01975.hp2 others(5): Show HG00639.hp1 HG01099.hp2 HG01975.hp2 HG02293.hp1 HG02300.hp1 HG03831.hp1 HG03927.hp1 HG04199.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0001 a0001c0004t0003	a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0100 others(5): Show a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0001g0100 a0001c0004t0003g0116 a0001c0004t0003g0117 a0001c0004t0003g0118 a0001c0004t0003g0119 a0001c0004t0003g0180	8	264	0.0303	-132	c.199 others(21): Show c.1999-11349_1999-11218del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1827498	TCCCGGGT others(125): Show TCCCGGGTGTGGGGTCCTCCCCTCCTGAGCCCGTCCCGGGTGTGGGGGCC TCCCCTCCTGAGCCCGTCCCGGGTGTGGCATCCTCCCCTCCTGAGCCCGT CCCGGGTGTGGGGTCCTCCCCTCCTGAGCCCCG	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	264	0.0038	-132	c.199 others(21): Show c.1999-11402_1999-11271del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAN2B2_chr4_6570189_6628362	6579009	CCACCACC others(125): Show CCACCACCACCATCACCATCACCACTACCACCATCACCACCATCACCACC ACCATCACCATCACCACCACCACCACCATCACCATCACCAGCACCACCAC CATCACCATCACCACTACCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA18522.hp1 HG02486.hp2 NA18522.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0055 a0002c0004t0003g0056 a0002c0004t0003g0055 a0002c0004t0003g0056	2	362	0.0055	-132	c.391 others(15): Show c.391+536_391+667del	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP4K4_chr2_101692707_101899690	101785675	TCCCTCTC others(125): Show TCCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTTCTTTCTTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp2 HG01255.hp2 others(5): Show HG00642.hp2 HG01074.hp2 HG01255.hp2 HG02647.hp1 HG03942.hp1 NA18950.hp2 NA18953.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0040 a0001c0002t0005 others(2): Show a0001c0001t0004 a0001c0001t0040 a0001c0002t0005 a0001c0002t0023 a0001c0002t0050	a0001c0001t0004g0174 a0001c0001t0004g0177 a0001c0001t0040g0173 others(5): Show a0001c0001t0004g0174 a0001c0001t0004g0177 a0001c0001t0040g0173 a0001c0002t0005g0237 a0001c0002t0005g0264 a0001c0002t0005g0275 a0001c0002t0023g0263 a0001c0002t0050g0277	8	310	0.0258	-132	c.124 others(17): Show c.124-5044_124-4913del	MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32			chr2	TogoVar
MBOAT7_chr19_54168415_54194580	54175973	GTGGCCTA others(125): Show GTGGCCTACCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCC ATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTGGCCAGGATGG TCTCGATCTCCTGACCTTGTGATCCACCCACCT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0308 a0001c0001t0002g0308	1	373	0.0027	-132	c.103 others(19): Show c.1032-1674_1032-1543del	MBOAT7	ENSG00000125505.17	transcript	ENST00000245615.6	protein_coding	7/7			chr19	TogoVar
MCC_chr5_113017106_113493453	113106109	GTTCACTA others(125): Show GTTCACTATGCCCCATTCACACTCCTTCCCCTCATTCACTATGCCCCATT CACACTCCTTCCCCTCATTCACTATGCCCCATTCACACTCCTTCCCCTCA TTCACTATGCCCCATTCACACTCCTTCCCCTCA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 HG02896.hp1 others(2): Show HG02559.hp2 HG02622.hp1 HG02896.hp1 HG02922.hp2 HG02976.hp1	a0001 a0003 a0001 a0003	a0001c0018 a0001c0023 a0003c0035 a0001c0018 a0001c0023 a0003c0035	a0001c0018t0007 a0001c0023t0010 a0001c0023t0040 others(1): Show a0001c0018t0007 a0001c0023t0010 a0001c0023t0040 a0003c0035t0001	a0001c0018t0007g0104 a0001c0018t0007g0105 a0001c0023t0010g0059 others(2): Show a0001c0018t0007g0104 a0001c0018t0007g0105 a0001c0023t0010g0059 a0001c0023t0040g0057 a0003c0035t0001g0001	5	160	0.0313	-132	c.102 others(19): Show c.1028-1886_1028-1755del	MCC	ENSG00000171444.19	transcript	ENST00000408903.7	protein_coding	6/18			chr5	TogoVar
MCF2L_chr13_112964214_113104742	113067538	TCGGAGGC others(125): Show TCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAG CTGGAGTGCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCA CCTGGGTGGTGCACAGCTGGAGTCCCAGCTACG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02129.hp1 HG02738.hp1 others(2): Show HG00733.hp1 HG02129.hp1 HG02738.hp1 HG06807.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0001c0006 others(1): Show a0001c0002 a0001c0005 a0001c0006 a0002c0007	a0001c0002t0002 a0001c0005t0001 a0001c0006t0002 others(1): Show a0001c0002t0002 a0001c0005t0001 a0001c0006t0002 a0002c0007t0001	a0001c0002t0002g0003 a0001c0002t0002g0093 a0001c0005t0001g0020 others(2): Show a0001c0002t0002g0003 a0001c0002t0002g0093 a0001c0005t0001g0020 a0001c0006t0002g0043 a0002c0007t0001g0076	5	116	0.0431	-132	c.881 others(17): Show c.881+1425_881+1556del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113069320	GCAGAGGC others(125): Show GCAGAGGCAGAGGTCGCAGTGAGCCGAGATTGCACCTGGGTGGTGCACAG CTGGAGTGCCAGCTACGCGGAGGCAGAGGTCGCAGTGAGCCGAGATTGCA CCTGGGTGGTGCACAGCTGGAGTCCCAGCTACT	G G	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	116	0.0086	-132	c.882 others(15): Show c.882-737_882-606del	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MECR_chr1_29187657_29235934	29189159	CGAACTGA others(125): Show CGAACTGACCTCAGGTGACCCGCCTGCCTTGGCCCCCCAAAGTGCTGGGA TTACAGGTGTGAGCCACTGTGTCTGGCGAATTTTTATATTTTTAGTATAG ACGGGGTTTCACCATGTTGGCCAGGGTGGTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01255.hp2 HG01891.hp1 others(8): Show HG01243.hp1 HG01255.hp2 HG01891.hp1 HG02723.hp2 HG02809.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp2 NA18906.hp1 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0008 a0001c0001 a0005c0008	a0001c0001t0003 a0005c0008t0003 a0001c0001t0003 a0005c0008t0003	a0001c0001t0003g0012 a0001c0001t0003g0024 a0001c0001t0003g0107 others(5): Show a0001c0001t0003g0012 a0001c0001t0003g0024 a0001c0001t0003g0107 a0001c0001t0003g0110 a0001c0001t0003g0134 a0001c0001t0003g0138 a0001c0001t0003g0139 a0005c0008t0003g0137	11	384	0.0287	-132	c.47 others(11): Show c.4731_*4862del	MECR	ENSG00000116353.16	transcript	ENST00000263702.11	protein_coding		3497		chr1	TogoVar
MEGF6_chr1_3482951_3616508	3583648	ACAGCCAC others(125): Show ACAGCCACCAGACAACGCGCAGCCACCAGACAACCCGCAGCCACCAGACA ACGCACAGCCACCAGACAACGCGCAGCCACCAGACAACGCGCAGCCACCA GACAACCCACAGCCACAGCCACCAGACAACCCG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0045 a0045	a0045c0124 a0045c0124	a0045c0124t0003 a0045c0124t0003	a0045c0124t0003g0064 a0045c0124t0003g0064	1	292	0.0034	-132	c.377 others(17): Show c.377-3851_377-3720del	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MEGF6_chr1_3482951_3616508	3591614	GAGGGGGC others(125): Show GAGGGGGCTGTTGGGGGCTGCTACCAAGGTCTCAGAGCTCACAAGGGACC TGATGGGGGCGCCAGCGAGGCAGCTGGTGGGGGCTGCTACCAAGGTCTCG TAGCTCACAAGGGACCCGATGGGGGCGCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01243.hp2 HG02258.hp1 others(10): Show HG00323.hp1 HG01243.hp2 HG02258.hp1 HG02602.hp2 HG03516.hp2 NA18944.hp1 NA18999.hp2 NA19007.hp2 NA19057.hp2 NA19065.hp1 NA19067.hp1 NA19091.hp1 NA20300.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0011 a0016 a0017 a0024 a0057 a0058 a0080 a0090	a0001c0007 a0002c0002 a0004c0004 others(8): Show a0001c0007 a0002c0002 a0004c0004 a0011c0011 a0016c0014 a0017c0012 a0024c0072 a0057c0098 a0058c0112 a0080c0059 a0090c0069	a0001c0007t0020 a0002c0002t0001 a0004c0004t0021 others(8): Show a0001c0007t0020 a0002c0002t0001 a0004c0004t0021 a0011c0011t0001 a0016c0014t0001 a0017c0012t0002 a0024c0072t0013 a0057c0098t0003 a0058c0112t0041 a0080c0059t0003 a0090c0069t0004	a0001c0007t0020g0282 a0002c0002t0001g0082 a0004c0004t0021g0055 others(10): Show a0001c0007t0020g0282 a0002c0002t0001g0082 a0004c0004t0021g0055 a0011c0011t0001g0073 a0011c0011t0001g0084 a0016c0014t0001g0080 a0016c0014t0001g0081 a0017c0012t0002g0212 a0024c0072t0013g0252 a0057c0098t0003g0251 a0058c0112t0041g0248 a0080c0059t0003g0085 a0090c0069t0004g0249	13	292	0.0445	-132	c.376 others(17): Show c.376+3592_376+3723del	MEGF6	ENSG00000162591.17	transcript	ENST00000356575.9	protein_coding	3/36			chr1	TogoVar
MORN5_chr9_122154908_122205083	122185395	TTTTTTGT others(125): Show TTTTTTGTATTTTTAGTAGAGTCGGGGTTTCACCATGTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCTGCCCTCCTTGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACTGCAACTGGCCAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp2 HG02145.hp2 others(11): Show HG00639.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02922.hp2 HG03098.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0087 a0001c0001t0001g0246 a0001c0001t0001g0253 others(11): Show a0001c0001t0001g0087 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0003g0071	14	388	0.0361	-132	c.439 others(19): Show c.439+10774_439+10905del	MORN5	ENSG00000185681.13	transcript	ENST00000373764.8	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
MSL2_chr3_136143917_136201335	136199848	AGACCAGC others(125): Show AGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAA ATTGGCCGGGCGCCGTGTCTCACACTTATAATCCCAGCACTTTGGGAGGC CGAGGTGGGCGGATTACCTGAGATCGGGAGTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0026 a0001c0001t0003g0026	1	310	0.0032	-132	c.-48 others(11): Show c.-4867_-4736del	MSL2	ENSG00000174579.5	transcript	ENST00000309993.3	protein_coding		3514		chr3	TogoVar
MSLN_chr16_755734_773862	767654	GGAGGGGG others(125): Show GGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGT GTGGGGGGGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGC GCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGT	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	388	0.0026	-132	c.159 others(17): Show c.1596+186_1596+317del	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYD88_chr3_38133661_38148022	38146858	AAAATAGA others(125): Show AAAATAGACTGGAAAAAAATTAAGTCTCAGGAATTTGTGGGACAACAAAA AAAGTCTAACATGTATGTCATCAGAGTCCCAAAAGGAGAGGAAAAATAAG TTGGAGCTAAAAGGGTATACAAATAAATATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	408	0.0025	-132	c.55 others(11): Show c.5573_*5704del	MYD88	ENSG00000172936.18	transcript	ENST00000650905.2	protein_coding		3837		chr3	TogoVar
MYO1F_chr19_8515778_8582442	8543678	GTGGTGGT others(125): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGTGCT GGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGC TGGTGGTGCTGGTGGTGGTGGTGCTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03225.hp1 NA19240.hp2 HG01109.hp2 HG03225.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0040 a0001c0001t0003g0270 a0001c0001t0003g0274 a0001c0001t0002g0040 a0001c0001t0003g0270 a0001c0001t0003g0274	3	342	0.0088	-132	c.152 others(17): Show c.1524+487_1524+618del	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYRIP_chr3_39804609_40265321	40084387	CGATAGAT others(125): Show CGATAGATAATACACATCTATGTATTATCTATCGGTAGATAATACACATC TATGTATTATCTATCGGTAGATAATACACATCTATGTATTATCTATCGGT AGATAATACACATCTATGTATTATCTATCGGTA	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03688.hp2 HG02683.hp2 HG03688.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0010 a0005c0013t0010	a0005c0013t0010g0078 a0005c0013t0010g0133 a0005c0013t0010g0078 a0005c0013t0010g0133	2	170	0.0118	-132	c.332 others(19): Show c.332+40121_332+40252del	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYZAP_chr15_57586904_57690364	57687462	CATATATA others(125): Show CATATATATAATATGTGTGTACAATATACACATATATATGTGTGTACAAT ATACACATATATATGTGTGTACAATATACACATATATATGTGTGTACAAT ATACACATATATATGTGTGTACAATATACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0294 a0001c0001t0003g0294	1	352	0.0028	-132	c.29 others(11): Show c.2965_*3096del	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2099		chr15	TogoVar
NCOR2_chr12_124319415_124572612	124339599	CCCACTGA others(125): Show CCCACTGACCCACCTACCCACCTAACCCAACCACCTATCTGGCTAACCCG GCCATCTATCCTTCCACCCACCCACCTACCTACCAAACCTGATCATCCAC CCATCCAACCAGCTAACCCAGCCATCTATCTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00544.hp1 others(83): Show HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02004.hp2 HG02055.hp2 HG02083.hp1 HG02135.hp1 HG02165.hp1 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02818.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03195.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18990.hp2 NA18993.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19067.hp2 NA19070.hp1 NA19087.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0005 a0009 a0013 a0014 a0020 a0021 a0024 a0035 a0051 a0054	a0001c0003 a0001c0005 a0001c0009 others(49): Show a0001c0003 a0001c0005 a0001c0009 a0001c0013 a0001c0022 a0001c0026 a0001c0029 a0001c0032 a0001c0049 a0001c0050 a0001c0052 a0001c0058 a0001c0086 a0001c0136 a0001c0147 a0001c0148 a0001c0149 a0002c0001 a0002c0006 a0002c0017 a0002c0039 a0002c0105 a0002c0114 a0002c0120 a0002c0123 a0002c0124 a0002c0150 a0003c0002 a0003c0011 a0003c0012 a0003c0024 a0003c0043 a0003c0044 a0003c0045 a0003c0075 a0005c0019 a0005c0067 a0005c0139 a0005c0141 a0009c0037 a0009c0128 a0013c0042 a0013c0070 a0014c0102 a0014c0103 a0020c0060 a0020c0062 a0021c0158 a0024c0129 a0035c0098 a0051c0065 a0054c0133	a0001c0003t0016 a0001c0005t0002 a0001c0005t0003 others(78): Show a0001c0003t0016 a0001c0005t0002 a0001c0005t0003 a0001c0005t0008 a0001c0005t0009 a0001c0009t0002 a0001c0009t0003 a0001c0009t0008 a0001c0013t0002 a0001c0022t0002 a0001c0022t0008 a0001c0026t0027 a0001c0026t0060 a0001c0029t0002 a0001c0029t0018 a0001c0032t0002 a0001c0032t0020 a0001c0049t0042 a0001c0050t0008 a0001c0052t0003 a0001c0058t0032 a0001c0086t0027 a0001c0136t0003 a0001c0147t0009 a0001c0148t0009 a0001c0149t0013 a0002c0001t0001 a0002c0001t0003 a0002c0001t0007 a0002c0001t0010 a0002c0001t0015 a0002c0001t0080 a0002c0006t0002 a0002c0006t0008 a0002c0006t0020 a0002c0006t0076 a0002c0017t0068 a0002c0017t0070 a0002c0017t0072 a0002c0039t0009 a0002c0039t0015 a0002c0105t0074 a0002c0114t0018 a0002c0120t0003 a0002c0123t0013 a0002c0124t0015 a0002c0150t0001 a0003c0002t0022 a0003c0002t0052 a0003c0002t0066 a0003c0002t0071 a0003c0011t0002 a0003c0011t0018 a0003c0011t0081 a0003c0012t0002 a0003c0012t0003 a0003c0012t0013 a0003c0024t0003 a0003c0043t0002 a0003c0044t0045 a0003c0045t0046 a0003c0075t0003 a0005c0019t0008 a0005c0019t0010 a0005c0067t0008 a0005c0139t0040 a0005c0141t0010 a0009c0037t0002 a0009c0037t0050 a0009c0128t0007 a0013c0042t0017 a0013c0070t0049 a0014c0102t0007 a0014c0103t0054 a0020c0060t0027 a0020c0062t0002 a0021c0158t0032 a0024c0129t0038 a0035c0098t0007 a0051c0065t0014 a0054c0133t0038	a0001c0003t0016g0021 a0001c0005t0002g0099 a0001c0005t0002g0100 others(83): Show a0001c0003t0016g0021 a0001c0005t0002g0099 a0001c0005t0002g0100 a0001c0005t0003g0186 a0001c0005t0008g0070 a0001c0005t0009g0080 a0001c0009t0002g0081 a0001c0009t0003g0228 a0001c0009t0008g0026 a0001c0013t0002g0022 a0001c0022t0002g0034 a0001c0022t0008g0030 a0001c0026t0027g0120 a0001c0026t0060g0110 a0001c0029t0002g0040 a0001c0029t0018g0154 a0001c0032t0002g0078 a0001c0032t0020g0096 a0001c0049t0042g0089 a0001c0050t0008g0035 a0001c0052t0003g0215 a0001c0058t0032g0007 a0001c0086t0027g0174 a0001c0136t0003g0194 a0001c0147t0009g0097 a0001c0148t0009g0061 a0001c0149t0013g0029 a0002c0001t0001g0220 a0002c0001t0003g0157 a0002c0001t0003g0173 a0002c0001t0007g0177 a0002c0001t0010g0204 a0002c0001t0015g0180 a0002c0001t0080g0232 a0002c0006t0002g0024 a0002c0006t0008g0008 a0002c0006t0020g0092 a0002c0006t0076g0179 a0002c0017t0068g0146 a0002c0017t0070g0113 a0002c0017t0072g0147 a0002c0039t0009g0071 a0002c0039t0015g0226 a0002c0105t0074g0139 a0002c0114t0018g0141 a0002c0120t0003g0200 a0002c0123t0013g0103 a0002c0124t0015g0134 a0002c0150t0001g0158 a0003c0002t0022g0015 a0003c0002t0022g0018 a0003c0002t0022g0058 a0003c0002t0052g0017 a0003c0002t0066g0111 a0003c0002t0071g0122 a0003c0011t0002g0090 a0003c0011t0018g0221 a0003c0011t0081g0234 a0003c0012t0002g0014 a0003c0012t0003g0222 a0003c0012t0013g0041 a0003c0024t0003g0197 a0003c0024t0003g0198 a0003c0043t0002g0086 a0003c0044t0045g0063 a0003c0045t0046g0031 a0003c0075t0003g0190 a0005c0019t0008g0037 a0005c0019t0010g0216 a0005c0067t0008g0025 a0005c0139t0040g0212 a0005c0141t0010g0184 a0009c0037t0002g0083 a0009c0037t0050g0082 a0009c0128t0007g0155 a0013c0042t0017g0095 a0013c0070t0049g0094 a0014c0102t0007g0176 a0014c0103t0054g0006 a0020c0060t0027g0132 a0020c0062t0002g0010 a0021c0158t0032g0023 a0024c0129t0038g0191 a0035c0098t0007g0178 a0051c0065t0014g0114 a0054c0133t0038g0160	86	234	0.3675	-132	c.568 others(17): Show c.5687+275_5687+406del	NCOR2	ENSG00000196498.15	transcript	ENST00000405201.6	protein_coding	39/48			chr12	TogoVar
NFATC1_chr18_79390930_79534323	79525017	CTACCCCT others(125): Show CTACCCCTCAGGCCTCCCCACGTCCCACCGTCGTTACCCCTCAGTCCTCC CCACGTCCCACCGTCGTTACCCCTCAGGCCTCCCCACGTCCCACCGTCGT TACCCCTCAGTCCTCCCCACGTCCCACCGTCGT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0305 a0001c0009t0007g0305	1	322	0.0031	-132	c.278 others(19): Show c.2783-2500_2783-2369del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79525154	CCTCAGTC others(125): Show CCTCAGTCCTCCCCACGTCCCACCGTCGTTACCCCTCAGTCCTCCCCACG TCCCACCGTCGTTACCCCTCAGTCCTCCCCACGTCCCACCGTCGTTACCC CTCAGTCCTCCCCACGTCCCACCGTCGTTACCT	C C	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	322	0.0031	-132	c.278 others(19): Show c.2783-2302_2783-2171del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFATC1_chr18_79390930_79534323	79525226	TCCTCCCC others(125): Show TCCTCCCCACGTCCCACCGTCGTTACCCCTCAGTCCTCCCCACGTCCCAC CGTCGTTACCTCTCAGTCCTCCCCACGTCCCACCGTCGTTACCCCTCAGT CCTCCCCACGTCCCACCGTCGTTACCCCTCAGG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01346.hp2 HG02886.hp1 others(7): Show HG01255.hp2 HG01346.hp2 HG02886.hp1 HG03492.hp1 HG03688.hp2 HG03942.hp2 HG04199.hp2 NA18970.hp1 NA19002.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0002c0002 others(2): Show a0001c0001 a0001c0004 a0002c0002 a0002c0057 a0006c0030	a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 a0001c0004t0003 a0002c0002t0001 a0002c0057t0002 a0006c0030t0005	a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0264 others(7): Show a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0264 a0001c0001t0001g0275 a0001c0001t0006g0105 a0001c0001t0020g0202 a0001c0004t0003g0148 a0002c0002t0001g0235 a0002c0057t0002g0069 a0006c0030t0005g0117	10	322	0.0311	-132	c.278 others(19): Show c.2783-2183_2783-2052del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar

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