Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TNK2_chr3_195858364_195913551	195880977	GCCCCCAG others(144): Show GCCCCCAGCGATGCCCCTTGGAGAGGACACAGTGTCTATCCCTCTAACAC CACCCGCCAGCAATGCCCCTTGAAGAGGACACAGGATCTGTCCCTCTAAC ACCCCCCCAGCAGTGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAAC AC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG02015.hp1 others(12): Show HG01192.hp2 HG01243.hp2 HG02015.hp1 HG02074.hp2 HG02165.hp1 NA18747.hp2 NA18940.hp2 NA18948.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18979.hp1 NA18980.hp1 NA19007.hp2 NA19060.hp1	a0001 a0002 a0026 a0001 a0002 a0026	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0033 a0002c0008 a0026c0048	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0033t0001 a0002c0008t0001 a0026c0048t0001	a0001c0001t0001g0246 a0001c0001t0001g0339 a0001c0002t0001g0174 others(12): Show a0001c0001t0001g0246 a0001c0001t0001g0339 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0187 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0003t0001g0200 a0001c0033t0001g0176 a0002c0008t0001g0204 a0026c0048t0001g0123	15	372	0.0403	-151	c.887 others(16): Show c.887+923_887+1073del	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
USP40_chr2_233470526_233571782	233477540	GCAGTGGG others(144): Show GCAGTGGGTGTCAGGGTGAGGGGTTCACGAAGACCCCAAAATACACTCCA ATTTTATAGGCCACAAGGACGTGCATTTGCAATTGCACAGACAGATCTCA GCCACCTGCCAGAGGGCCCCATTTTGCCCTGCCACCAGCCCTGTGCCAGG CC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0004 a0001c0001t0015g0252 a0001c0001t0015g0004 a0001c0001t0015g0252	3	324	0.0093	-151	c.360 others(16): Show c.3600-188_3600-38del	USP40	ENSG00000085982.16	transcript	ENST00000678225.2	protein_coding	31/31			chr2	TogoVar
VAV2_chr9_133756894_133997324	133827242	CCACTGAG others(144): Show CCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACC ACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCAC TGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG AG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02273.hp1 NA19030.hp2 HG00741.hp1 HG02273.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0003 a0002c0005t0001 a0001c0002t0003 a0002c0005t0001	a0001c0002t0003g0194 a0002c0005t0001g0037 a0002c0005t0001g0068 a0001c0002t0003g0194 a0002c0005t0001g0037 a0002c0005t0001g0068	3	200	0.0150	-151	c.449 others(17): Show c.449+6879_449+7029del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133827725	CTGAGCAC others(144): Show CTGAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACT GAGCACGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGA GTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGT GG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0031 a0002c0001t0031	a0002c0001t0031g0102 a0002c0001t0031g0102	1	200	0.0050	-151	c.449 others(17): Show c.449+6396_449+6546del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VAV2_chr9_133756894_133997324	133828010	CCACTGAG others(144): Show CCACTGAGTGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACC ACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCAC TGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTG AG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0179 a0001c0002t0002g0179	1	200	0.0050	-151	c.449 others(17): Show c.449+6111_449+6261del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
ZFYVE28_chr4_2264597_2423645	2396302	AGCCATCC others(144): Show AGCCATCCTGCAGAGGGGACACAAGGTGGGGGTGTCTGAGCTGATGGGAC CAGCCATCCTGCAGAGGGGCCATAAGGCGGGGTGTCTGAGCTGATGGGAC CAGCCATCCTGCAGAGGGGACACAAGGCGGGGTGTCTGAGCTGATGGGAC GG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0269 a0001c0002t0001g0269	1	290	0.0035	-151	c.39+ others(17): Show c.39+21832_39+21982del	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	1/12			chr4	TogoVar
ZNF253_chr19_19860882_19899674	19885239	CTTTCTTT others(144): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTCCTTTCTTTTCTTTCTTTTCTTTCTTTTCTTT CT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp1 HG02280.hp2 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0007 a0001c0004t0006 a0001c0004t0007	a0001c0004t0006g0233 a0001c0004t0007g0283 a0001c0004t0006g0233 a0001c0004t0007g0283	2	370	0.0054	-151	c.226 others(17): Show c.226+5109_226+5259del	ZNF253	ENSG00000256771.5	transcript	ENST00000589717.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF573_chr19_37733302_37784586	37751630	CATATATA others(144): Show CATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTATATA GTACATAGTACCGTATATATACTGTATATAGTACATAGTACCGTATATAT ACTGTATATAGTACATAGTACCGTATATACTGTATATAGTACATAGTACC GT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01515.hp1 HG01517.hp2 HG00280.hp1 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0207 a0001c0001t0001g0008 a0001c0001t0001g0207	3	350	0.0086	-151	c.296 others(19): Show c.296-11587_296-11437del	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ABLIM2_chr4_7960327_8163813	8034685	TGGTAGGT others(143): Show TGGTAGGTGGGTACAGGTGGGTAGTGGGTGGTAGGTAGGTGGGTGCAGGT GGGTGGGTAGTAGGTAGGTGGGTGCAGGTGGGTAGGTGGGTGGTGGGTGC AGGTGGGTGGTGGGTGGTAGGTAGGTGGGTGCAGGTGGGTGGTGGGTGGT A	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	322	0.0031	-150	c.104 others(19): Show c.1047+1314_1047+1463del	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	10/20			chr4	TogoVar
ABR_chr17_998519_1184981	1054545	GAGGGGAC others(143): Show GAGGGGACGGGGGCACAAAGAACCTGAGGGGATGGGGGCACAAGGAACCT GAGGGGATGGGGGCACAAGGAACCTCAGGGGATGTGGGCACAAGGAACCT CAGGGGATGGGGGCACAAGGAACCTGAGGGGATGGGGGCACAAGGAACCT C	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG02809.hp1 HG01109.hp2 HG02572.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0021 a0001c0003t0083 a0001c0003t0016 a0001c0003t0021 a0001c0003t0083	a0001c0003t0016g0163 a0001c0003t0021g0276 a0001c0003t0083g0285 a0001c0003t0016g0163 a0001c0003t0021g0276 a0001c0003t0083g0285	3	337	0.0089	-150	c.156 others(19): Show c.1561+1340_1561+1489del	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	14/22			chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289131	CCGTGTCT others(143): Show CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCG T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	295	0.0034	-150	c.42 others(11): Show c.4283_*4432del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3259		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289384	TCTGCTCC others(143): Show TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTC C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	295	0.0034	-150	c.40 others(11): Show c.4030_*4179del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3006		chr1	TogoVar
ADAMTS2_chr5_179105853_179350461	179214140	GTCACCAT others(143): Show GTCACCATTACTGAGACACATTAGGACACAACTCAAAAATCGTGCTCACA GTCACCATTACTGAGACACATTAGGACACAACTCAAAAATCGTGCCCACA GTCACCATTACTGAGACACATTAGGACACAACTCAAAAGCCGTGCCCACA A	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(48): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01175.hp2 HG01346.hp1 HG01433.hp2 HG01884.hp1 HG01934.hp1 HG01975.hp2 HG02083.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02451.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03130.hp1 HG03195.hp1 HG03239.hp2 HG03831.hp1 HG04115.hp1 HG04199.hp2 NA18952.hp1 NA18966.hp1 NA18977.hp1 NA18984.hp1 NA18986.hp1 NA19011.hp2 NA19065.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0010 a0013 a0015 a0020 a0023 a0030 a0035	a0001c0001 a0001c0004 a0001c0014 others(35): Show a0001c0001 a0001c0004 a0001c0014 a0001c0018 a0001c0022 a0001c0034 a0001c0051 a0001c0052 a0001c0070 a0002c0002 a0002c0007 a0002c0008 a0002c0012 a0002c0023 a0003c0003 a0003c0107 a0003c0108 a0004c0006 a0004c0016 a0004c0039 a0004c0101 a0004c0102 a0004c0110 a0004c0111 a0005c0013 a0005c0015 a0005c0019 a0005c0033 a0006c0011 a0006c0061 a0007c0005 a0010c0036 a0013c0080 a0015c0086 a0020c0113 a0023c0090 a0030c0085 a0035c0071	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(41): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0004t0026 a0001c0014t0002 a0001c0014t0013 a0001c0018t0002 a0001c0022t0002 a0001c0034t0002 a0001c0051t0001 a0001c0052t0002 a0001c0070t0001 a0002c0002t0001 a0002c0002t0022 a0002c0007t0002 a0002c0008t0001 a0002c0008t0004 a0002c0012t0001 a0002c0023t0002 a0003c0003t0001 a0003c0003t0002 a0003c0107t0011 a0003c0108t0008 a0004c0006t0001 a0004c0016t0002 a0004c0039t0002 a0004c0101t0002 a0004c0102t0001 a0004c0110t0002 a0004c0111t0004 a0005c0013t0003 a0005c0015t0005 a0005c0019t0003 a0005c0033t0003 a0006c0011t0003 a0006c0061t0003 a0007c0005t0003 a0010c0036t0004 a0013c0080t0012 a0015c0086t0004 a0020c0113t0029 a0023c0090t0016 a0030c0085t0002 a0035c0071t0005	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0004g0122 others(48): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0004g0122 a0001c0004t0001g0190 a0001c0004t0026g0172 a0001c0014t0002g0073 a0001c0014t0013g0112 a0001c0018t0002g0178 a0001c0022t0002g0042 a0001c0034t0002g0134 a0001c0051t0001g0182 a0001c0052t0002g0148 a0001c0070t0001g0084 a0002c0002t0001g0001 a0002c0002t0001g0030 a0002c0002t0022g0136 a0002c0007t0002g0082 a0002c0008t0001g0150 a0002c0008t0001g0166 a0002c0008t0001g0183 a0002c0008t0004g0170 a0002c0012t0001g0060 a0002c0023t0002g0151 a0003c0003t0001g0225 a0003c0003t0001g0231 a0003c0003t0002g0237 a0003c0107t0011g0212 a0003c0108t0008g0207 a0004c0006t0001g0249 a0004c0016t0002g0230 a0004c0039t0002g0204 a0004c0101t0002g0223 a0004c0102t0001g0251 a0004c0110t0002g0205 a0004c0111t0004g0211 a0005c0013t0003g0087 a0005c0015t0005g0076 a0005c0019t0003g0160 a0005c0019t0003g0180 a0005c0033t0003g0140 a0006c0011t0003g0168 a0006c0061t0003g0039 a0007c0005t0003g0260 a0007c0005t0003g0273 a0010c0036t0004g0063 a0013c0080t0012g0192 a0015c0086t0004g0201 a0020c0113t0029g0276 a0023c0090t0016g0215 a0030c0085t0002g0202 a0035c0071t0005g0044	51	276	0.1848	-150	c.689 others(17): Show c.689-6575_689-6426del	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAP1_chr7_892900_959680	911548	ACACGGAG others(143): Show ACACGGAGGGCCAGGAAGGGGGCGGGGGTCCCACGGAGGGCCAGGAAGGG GGCGGGGGTCCCACGGAGGGCCAGGAAGGGGGCGGGGGTCCCACGGAGGG CCAGGAAGGGGGCGGGGGTCCCACGGAGGGCCAGGAAGGGGGCGGGGGTC C	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03654.hp2 HG02280.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0001 a0001c0001t0001g0014	2	14	0.1429	-150	c.389 others(17): Show c.389-6526_389-6377del	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	4/10			chr7	TogoVar
AGO2_chr8_140515156_140640633	140622606	CGGGGGAA others(143): Show CGGGGGAATAATCCACATGGGGTCTCCTCTTGGGGGAATAATCCACATGG GGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATA ATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACATGGGGTCTCCTCT T	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02622.hp2 HG02647.hp1 others(1): Show HG01109.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0070 a0001c0007t0035 a0001c0007t0073 others(1): Show a0001c0001t0070 a0001c0007t0035 a0001c0007t0073 a0001c0007t0074	a0001c0001t0070g0188 a0001c0007t0035g0187 a0001c0007t0073g0189 others(1): Show a0001c0001t0070g0188 a0001c0007t0035g0187 a0001c0007t0073g0189 a0001c0007t0074g0190	4	338	0.0118	-150	c.22+ others(17): Show c.22+12729_22+12878del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGO2_chr8_140515156_140640633	140623134	GGGGTCTC others(143): Show GGGGTCTCCTCTTGGGGGAATAATCCACATGGGGTCTCCTCTTGGGGGAA TAATGCACATGGGGTCTCCTCTTGGGGTAATAATCCACATGGGGTCTCCT CTTGGGGGAATAATGCACATGGGGTCTCCTCTTGGGGGAATAATGCACAT A	G G	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03710.hp1 HG04115.hp1 others(1): Show HG02738.hp2 HG03710.hp1 HG04115.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0002t0017 a0001c0002t0125 others(1): Show a0001c0002t0004 a0001c0002t0017 a0001c0002t0125 a0001c0003t0064	a0001c0002t0004g0282 a0001c0002t0017g0283 a0001c0002t0125g0284 others(1): Show a0001c0002t0004g0282 a0001c0002t0017g0283 a0001c0002t0125g0284 a0001c0003t0064g0291	4	338	0.0118	-150	c.22+ others(17): Show c.22+12201_22+12350del	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AK8_chr9_132720578_132883284	132821769	GTATATGT others(143): Show GTATATGTGTATGTATATACAAATATATACATATATGTGTATGTATATAC AAATATATACATATATGTGTATGTATATACAAATATATACATATATGTGT ATGTATATACAAATATATACATATATGTGTATGTATATACAAATATATAC A	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01515.hp2 HG00733.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0141 a0001c0001t0001g0147	2	266	0.0075	-150	c.889 others(17): Show c.889+1286_889+1435del	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12			chr9	TogoVar
ALOXE3_chr17_8090900_8123514	8107848	AGAAAGAA others(143): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGGAA G	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02922.hp2 HG03669.hp1 HG02148.hp2 HG02922.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0005 a0001c0002t0003 a0002c0004t0001 a0001c0001t0005 a0001c0002t0003 a0002c0004t0001	a0001c0001t0005g0344 a0001c0002t0003g0384 a0002c0004t0001g0016 a0001c0001t0005g0344 a0001c0002t0003g0384 a0002c0004t0001g0016	3	422	0.0071	-150	c.168 others(17): Show c.1684+470_1684+619del	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ANKRD11_chr16_89262630_89495561	89421120	CTGAGACA others(143): Show CTGAGACACGAAGGGTCAGTGTGTGATGACGGAGTCAGGGATGGGACCAT CACCCGTCCATGTCTGGGGGTGGGGGTGAGACACGAAGGGTCGGTGTGTG ATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGGGGGTGGGG G	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0001 a0001c0055t0001	a0001c0055t0001g0097 a0001c0055t0001g0097	1	310	0.0032	-150	c.-14 others(19): Show c.-144-2902_-144-2753del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89421137	AGTGTGTG others(143): Show AGTGTGTGATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGG GGGTGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGAT GGGACCATCACCCGTCCATGTCTGGGGGTGGGGGTGAGACACGAAGGGTC G	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp2 NA19005.hp1 others(1): Show HG03041.hp1 HG03453.hp2 NA19005.hp1 NA20129.hp2	a0001 a0002 a0020 a0001 a0002 a0020	a0001c0007 a0002c0002 a0020c0033 a0001c0007 a0002c0002 a0020c0033	a0001c0007t0001 a0002c0002t0001 a0020c0033t0001 a0001c0007t0001 a0002c0002t0001 a0020c0033t0001	a0001c0007t0001g0092 a0002c0002t0001g0064 a0002c0002t0001g0065 others(1): Show a0001c0007t0001g0092 a0002c0002t0001g0064 a0002c0002t0001g0065 a0020c0033t0001g0061	4	310	0.0129	-150	c.-14 others(19): Show c.-144-2919_-144-2770del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89421265	TGGGGGTG others(143): Show TGGGGGTGAGACACGAAGGGTCGGTGTGTGATGACGGAGTCAGGGATGGG ACCATCACCCGTCCATGTCTGGGGGTGGGGGTGAGACACGAAGGGTCGGT GTGTGATGACGGAGTCAGGGATGGGACCATCACCCGTCCATGTCTGGGGG C	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00423.hp1 others(124): Show HG00099.hp1 HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18959.hp2 NA18964.hp1 NA18969.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18984.hp2 NA18990.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19063.hp1 NA19067.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0018 a0021 a0022 a0023 a0024 a0027 a0030 a0031 a0034	a0001c0001 a0001c0006 a0001c0018 others(25): Show a0001c0001 a0001c0006 a0001c0018 a0001c0022 a0002c0002 a0002c0009 a0003c0003 a0003c0008 a0003c0013 a0003c0017 a0003c0025 a0004c0004 a0005c0005 a0006c0010 a0006c0044 a0007c0012 a0009c0016 a0011c0014 a0012c0057 a0018c0046 a0021c0040 a0022c0039 a0023c0030 a0024c0028 a0027c0043 a0030c0053 a0031c0052 a0034c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0006t0001 a0001c0006t0003 a0001c0018t0001 a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0009t0001 a0002c0009t0002 a0003c0003t0001 a0003c0008t0001 a0003c0008t0003 a0003c0013t0001 a0003c0017t0003 a0003c0025t0001 a0004c0004t0001 a0005c0005t0001 a0006c0010t0001 a0006c0044t0002 a0007c0012t0001 a0009c0016t0001 a0011c0014t0003 a0012c0057t0001 a0018c0046t0002 a0021c0040t0002 a0022c0039t0007 a0023c0030t0001 a0024c0028t0001 a0027c0043t0001 a0030c0053t0001 a0031c0052t0003 a0034c0023t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0027 others(124): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0042 a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0221 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0281 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0002g0223 a0001c0001t0006g0248 a0001c0006t0001g0225 a0001c0006t0003g0126 a0001c0018t0001g0278 a0001c0022t0001g0123 a0002c0002t0001g0124 a0002c0002t0002g0022 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0143 a0002c0002t0002g0153 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0192 a0002c0002t0002g0215 a0002c0002t0002g0222 a0002c0002t0002g0227 a0002c0002t0002g0230 a0002c0002t0002g0233 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0262 a0002c0002t0002g0269 a0002c0002t0002g0276 a0002c0002t0002g0280 a0002c0002t0002g0285 a0002c0002t0002g0299 a0002c0002t0002g0306 a0002c0002t0008g0172 a0002c0009t0001g0294 a0002c0009t0002g0284 a0003c0003t0001g0034 a0003c0003t0001g0109 a0003c0003t0001g0162 a0003c0003t0001g0164 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0202 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0287 a0003c0003t0001g0296 a0003c0003t0001g0298 a0003c0003t0001g0300 a0003c0003t0001g0302 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0305 a0003c0008t0001g0016 a0003c0008t0003g0044 a0003c0013t0001g0048 a0003c0013t0001g0150 a0003c0017t0003g0028 a0003c0017t0003g0199 a0003c0025t0001g0179 a0004c0004t0001g0165 a0004c0004t0001g0293 a0005c0005t0001g0142 a0005c0005t0001g0174 a0006c0010t0001g0189 a0006c0044t0002g0144 a0007c0012t0001g0128 a0007c0012t0001g0158 a0007c0012t0001g0161 a0009c0016t0001g0297 a0009c0016t0001g0308 a0011c0014t0003g0089 a0011c0014t0003g0271 a0012c0057t0001g0122 a0018c0046t0002g0125 a0021c0040t0002g0246 a0022c0039t0007g0268 a0023c0030t0001g0090 a0024c0028t0001g0204 a0027c0043t0001g0178 a0030c0053t0001g0138 a0031c0052t0003g0120 a0034c0023t0001g0023	127	310	0.4097	-150	c.-14 others(19): Show c.-144-3047_-144-2898del	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12			chr16	TogoVar
ARHGAP24_chr4_85470150_86007666	85874772	TATAAAAT others(143): Show TATAAAATATATTTATATATAATTTATATATAAAATATATTTATATATAA TTTATATATAAAATATATTTTTATATAATTTATATATAAATATATTTTTA TATAATTTATATATAAATATATTTTATATAATTTATATATAAATATATTT A	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02897.hp2 HG03471.hp1 others(2): Show HG02258.hp1 HG02897.hp2 HG03471.hp1 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0005 a0001c0002t0002g0041 a0001c0002t0002g0068 others(2): Show a0001c0002t0002g0005 a0001c0002t0002g0041 a0001c0002t0002g0068 a0001c0002t0008g0052 a0001c0002t0008g0053	5	108	0.0463	-150	c.269 others(19): Show c.269-48875_269-48726del	ARHGAP24	ENSG00000138639.18	transcript	ENST00000395184.6	protein_coding	3/9			chr4	TogoVar
ARHGEF18_chr19_7343937_7477478	7361999	AAGAAGAA others(143): Show AAGAAGAAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG G	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp2 HG02145.hp2 others(10): Show HG01099.hp2 HG01261.hp2 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02922.hp2 HG03130.hp2 HG03209.hp2 NA20300.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0011	a0001c0001 a0001c0047 a0002c0004 others(4): Show a0001c0001 a0001c0047 a0002c0004 a0002c0007 a0009c0012 a0011c0024 a0011c0025	a0001c0001t0002 a0001c0001t0004 a0001c0001t0030 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0030 a0001c0047t0002 a0002c0004t0004 a0002c0007t0001 a0009c0012t0010 a0011c0024t0015 a0011c0025t0005	a0001c0001t0002g0012 a0001c0001t0002g0070 a0001c0001t0004g0004 others(10): Show a0001c0001t0002g0012 a0001c0001t0002g0070 a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0030g0008 a0001c0047t0002g0005 a0002c0004t0004g0002 a0002c0007t0001g0011 a0009c0012t0010g0003 a0009c0012t0010g0006 a0009c0012t0010g0071 a0011c0024t0015g0009 a0011c0025t0005g0013	13	298	0.0436	-150	c.-11 others(17): Show c.-110-776_-110-627del	ARHGEF18	ENSG00000104880.19	transcript	ENST00000668164.2	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARMH4_chr14_57995761_58157213	58064062	TATCAACA others(143): Show TATCAACAATAGGTTGAGCCAACACCCAAAATGTTGGCATTAAAATTTTG CCTTAACAATTCCAACACACGATTATCATATCAAGAAACGGTCACTTATA ATATTTATGCATTCATTAACTTTTCTCAAAACATTATTACCCACTCCCTG A	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18906.hp2 HG02451.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0078 a0001c0001t0001g0079	2	258	0.0078	-150	c.208 others(21): Show c.2089+32512_2089+32661del	ARMH4	ENSG00000139971.15	transcript	ENST00000267485.7	protein_coding	5/7			chr14	TogoVar
ARRB2_chr17_4705632_4726497	4714563	TTTCCCCT others(143): Show TTTCCCCTTGCCACCACGTTAGAAATAGGAAGGACCTTCCGGGAAGAAGG GTTCCCCTTGCCACCACGTTAGAAATAGGAAGGACCTTCCGGGAAGAAGG GTTCCCCTTGCCACCACGTTAGAAATAGGAAGGACCTTCCGGGAAGAAGG G	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01070.hp1 HG01109.hp2 others(28): Show HG00099.hp1 HG01070.hp1 HG01109.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01515.hp1 HG01517.hp2 HG01981.hp1 HG02258.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp2 HG02738.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03490.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG06807.hp2 NA18747.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0005	a0001c0001t0001g0060 a0001c0001t0001g0113 a0001c0002t0001g0008 others(12): Show a0001c0001t0001g0060 a0001c0001t0001g0113 a0001c0002t0001g0008 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0094 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0005g0095	31	432	0.0718	-150	c.24- others(13): Show c.24-299_24-150del	ARRB2	ENSG00000141480.18	transcript	ENST00000269260.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
BOP1_chr8_144257045_144296438	144281089	CTTTAATA others(143): Show CTTTAATACCAGGTCTTCGGCCTTCTCTCAGTTTAATACCAGGTCTTAGG CCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACC AGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCA G	C C	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	398	0.0025	-150	c.310 others(17): Show c.310-4935_310-4786del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281174	CCTCACTT others(143): Show CCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTC TTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTCTTTGGCCTTC T	C C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	398	0.0025	-150	c.310 others(17): Show c.310-5020_310-4871del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281264	CCTCAGTT others(143): Show CCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCACTTTCATACCAGGTC TTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTA ATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTC T	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01070.hp1 HG01071.hp1 others(3): Show HG00639.hp2 HG01070.hp1 HG01071.hp1 HG02683.hp1 HG06807.hp1 NA18998.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0005c0009t0001 a0001c0001t0001 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0098 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0061 a0001c0001t0001g0098 a0005c0009t0001g0148	6	398	0.0151	-150	c.310 others(17): Show c.310-5110_310-4961del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281303	CATACCAG others(143): Show CATACCAGGTCTTTGGCCTTCTCTCAGTTTAATACCAGGTCTTCGGCCTT CCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAATACCAGGT CTTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCTCTCAGTTT A	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	398	0.0025	-150	c.310 others(17): Show c.310-5149_310-5000del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BOP1_chr8_144257045_144296438	144281346	CGGCCTTC others(143): Show CGGCCTTCCCTCAGTTTAATACCAGGTCTTCGGCCTTCCCTCAGTTTAAT ACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTTTGGCCTTCTC TCAGTTTAATACCAGGTCTTCGGCCTTCTCTCACTTTCATACCAGGTCTT T	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG03491.hp1 NA20752.hp2 HG02165.hp2 HG03491.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0161 a0001c0001t0001g0254 a0001c0001t0001g0093 a0001c0001t0001g0161 a0001c0001t0001g0254	3	398	0.0075	-150	c.310 others(17): Show c.310-5192_310-5043del	BOP1	ENSG00000261236.8	transcript	ENST00000569669.6	protein_coding	2/15			chr8	TogoVar
BRD1_chr22_49768283_49832873	49782061	TATGTTGC others(143): Show TATGTTGCTGGGACCCGCTCCGTGACAATGCAGCTGGGACGGTCAGAGAC AGACCCAAGGCCCAGGCCAGACGCCTGCACGAGACCTGCTCTTGCTGGGA CCTGCTCCGTGACAATGCAGCCGGGGACGGTCAGAGACAGACCCAAGGCC C	T T	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	258	0.0039	-150	c.285 others(19): Show c.2858-4398_2858-4249del	BRD1	ENSG00000100425.19	transcript	ENST00000404760.6	protein_coding	8/12			chr22	TogoVar
BRSK1_chr19_55278997_55317562	55286026	AAGGGAGG others(143): Show AAGGGAGGAGGGGCTGGGGGTCTGGAGTGCTGGGTCTGAGGGAGGAGGGG CTGGGGGCCTGGAGTGCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGA GTGCTGGGTCTGAGGGAGGAAGGGGCTGGGGGGGCTGGATTCCTGGGTCT G	A A	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG04184.hp2 HG03834.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0260 a0001c0001t0030g0281 a0001c0001t0001g0260 a0001c0001t0030g0281	2	338	0.0059	-150	c.137 others(15): Show c.137-962_137-813del	BRSK1	ENSG00000160469.17	transcript	ENST00000309383.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
C1orf159_chr1_1076823_1121089	1077541	CGAGAGGC others(143): Show CGAGAGGCTGAGTCTATGGGGACTCCGTGCCGGGAGGCTGAGTCTATGGG GACTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGTTGGGGGAGGCTG AGGCTATGGGGACTCCGTTGGGGGAGGCTGAGGCTATGGGGACTCCGTTG G	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG01074.hp1 others(5): Show HG00099.hp1 HG00099.hp2 HG01074.hp1 HG01175.hp1 HG01361.hp1 HG01934.hp1 HG02922.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0001 a0001c0001t0011 a0001c0001t0013	a0001c0001t0001g0046 a0001c0001t0001g0149 a0001c0001t0001g0175 others(5): Show a0001c0001t0001g0046 a0001c0001t0001g0149 a0001c0001t0001g0175 a0001c0001t0001g0196 a0001c0001t0001g0234 a0001c0001t0011g0032 a0001c0001t0011g0160 a0001c0001t0013g0031	8	326	0.0245	-150	c.52 others(11): Show c.5202_*5351del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4281		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1077707	TGGGGACT others(143): Show TGGGGACTCCGTGCGGGGAGGCTGAGGCTACGGGGACTCCGTGGGGGGAG GCTGAGGCTACGGGGACTCCGTGGGGGGAGGCTGAGGCTACGGGGACTCC GTGGGGGGAGGCTGAGGCTACGGGGACTCCGTGCGGGGAGGCTGAGGCTA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	326	0.0031	-150	c.50 others(11): Show c.5036_*5185del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		4115		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078611	GACTCCGT others(143): Show GACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGCCGGGAGGCTGAGGCTATGGGGACTCCGTGG GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0117 a0001c0001t0006g0117	1	326	0.0031	-150	c.41 others(11): Show c.4132_*4281del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3211		chr1	TogoVar
C1orf159_chr1_1076823_1121089	1078711	GGGGAGGC others(143): Show GGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTGAGGCTATGGG CACTCCGTGGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGCTG AGGCTATGGGGACTCCGTGAGGGGTGGCTGAGGCTATGGGGACTCCGTGC C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	326	0.0031	-150	c.40 others(11): Show c.4032_*4181del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		3111		chr1	TogoVar
CASP3_chr4_184622696_184654447	184624466	AACCTGTT others(143): Show AACCTGTTTCTGACCACGGCCTCCATCACTGACCTGTTTCTGACCACAGC CTCCATCACTGACCTGTTTCTGACCACAGCCTCCATCACTGACCTGTTTC TGTCCACAGCCTCCATCACTGACCTGTTTCTGACCACAGCCTCCATCACT G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	366	0.0027	-150	c.46 others(11): Show c.4656_*4805del	CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding		3229		chr4	TogoVar
CCDC6_chr10_59783747_59911556	59882149	AGGAAAGG others(143): Show AGGAAAGGAAAGCCGGCGGGATGAAGGAATATGAAATGCCGGGGGGAGAA GGAAAGGTAAAGCCGCGGGGAGTAAGGAAAGGAAAGTCCGGGGTAGTAAG GAAAGGTAAAGCCGGGGGGATGAATGGAAAGGTAATGCTCGGCGGGAGAA T	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02300.hp2 HG02698.hp1 others(1): Show HG01192.hp2 HG02300.hp2 HG02698.hp1 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0007 a0002c0004t0001 a0001c0001t0007 a0002c0004t0001	a0001c0001t0007g0184 a0001c0001t0007g0185 a0002c0004t0001g0177 others(1): Show a0001c0001t0007g0184 a0001c0001t0007g0185 a0002c0004t0001g0177 a0002c0004t0001g0178	4	288	0.0139	-150	c.303 others(19): Show c.303+23823_303+23972del	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC6_chr10_59783747_59911556	59882165	CGGGATGA others(143): Show CGGGATGAAGGAATATGAAATGCCGGGGGGAGAAGGAAAGGTAAAGCCGC GGGGAGTAAGGAAAGGAAAGTCCGGGGTAGTAAGGAAAGGTAAAGCCGGG GGGATGAATGGAAAGGTAATGCTCGGCGGGAGAATGGAAAGGAAAGCCGG G	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02809.hp2 HG02280.hp1 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0116 a0001c0005t0004g0118 a0001c0005t0004g0116 a0001c0005t0004g0118	2	288	0.0069	-150	c.303 others(19): Show c.303+23807_303+23956del	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCDC77_chr12_396644_447642	420124	AACACACA others(143): Show AACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACCCTCCATG TTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA T	A A	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp2 HG01928.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0011 a0001c0001t0002g0012	2	432	0.0046	-150	c.413 others(17): Show c.413+1527_413+1676del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421160	TACACATA others(143): Show TACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTT CCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATA C	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0411 a0005c0005t0005g0411	1	432	0.0023	-150	c.413 others(17): Show c.413+2547_413+2696del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421752	TACACATA others(143): Show TACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTT CCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATA C	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp1 NA20905.hp1 HG01433.hp1 HG01884.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0401 a0001c0001t0010g0209 a0001c0001t0010g0281 a0001c0001t0004g0401 a0001c0001t0010g0209 a0001c0001t0010g0281	3	432	0.0069	-150	c.413 others(17): Show c.413+3139_413+3288del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421789	TCTTCTGT others(143): Show TCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAG CACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGT GAGAGGGTAAATACACACATAGCAGCACACTCCATGTTCCATTACAGTGC A	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02165.hp2 HG02735.hp1 others(10): Show HG00423.hp2 HG02165.hp2 HG02735.hp1 NA18963.hp2 NA18967.hp2 NA18973.hp1 NA18982.hp1 NA18983.hp2 NA19003.hp2 NA19012.hp1 NA19057.hp2 NA19080.hp2 NA19085.hp1	a0002 a0004 a0011 a0002 a0004 a0011	a0002c0002 a0004c0004 a0011c0008 a0002c0002 a0004c0004 a0011c0008	a0002c0002t0002 a0002c0002t0013 a0004c0004t0001 others(2): Show a0002c0002t0002 a0002c0002t0013 a0004c0004t0001 a0004c0004t0002 a0011c0008t0002	a0002c0002t0002g0113 a0002c0002t0002g0145 a0002c0002t0002g0162 others(10): Show a0002c0002t0002g0113 a0002c0002t0002g0145 a0002c0002t0002g0162 a0002c0002t0002g0350 a0002c0002t0002g0351 a0002c0002t0002g0355 a0002c0002t0013g0363 a0004c0004t0001g0207 a0004c0004t0002g0307 a0004c0004t0002g0310 a0004c0004t0002g0311 a0004c0004t0002g0312 a0011c0008t0002g0101	13	432	0.0301	-150	c.413 others(17): Show c.413+3189_413+3338del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDC42EP5_chr19_54460026_54478296	54472093	ACCCCCAG others(143): Show ACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGACCCCCCAGCCCCTCCTCCCTCAGAC TCATGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGA C	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	421	0.0024	-150	c.-14 others(17): Show c.-141-558_-141-409del	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDC42EP5_chr19_54460026_54478296	54472514	TCCTCCTC others(143): Show TCCTCCTCCCTCAGACCCAGGAGTCAAGATCCCCCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGT CCAGACCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCATC C	T T	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	421	0.0024	-150	c.-14 others(17): Show c.-142+400_-142+549del	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDH4_chr20_61247261_61945617	61942997	TGAGGAGC others(143): Show TGAGGAGCACTGCGACTGTCTGCACCATGGCCGCCCCTTCTCACCGACCA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACCA CGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGA C	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	106	0.0094	-150	c.60 others(11): Show c.6055_*6204del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2381		chr20	TogoVar
CDH4_chr20_61247261_61945617	61943314	GTCTGCAC others(143): Show GTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACC GTCGGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACC GTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACC C	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0001 a0004c0019t0001	a0004c0019t0001g0015 a0004c0019t0001g0015	1	106	0.0094	-150	c.63 others(11): Show c.6372_*6521del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2698		chr20	TogoVar
CDH4_chr20_61247261_61945617	61943766	CTGCACCG others(143): Show CTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCTTCTCACCGACAACGAGGAGCACTGCGACCGT CTGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACTGT A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0045 a0003c0018t0045	a0003c0018t0045g0052 a0003c0018t0045g0052	1	106	0.0094	-150	c.68 others(11): Show c.6824_*6973del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3150		chr20	TogoVar
CDH4_chr20_61247261_61945617	61945136	CGACCGTC others(143): Show CGACCGTCTGCACCGTGGCCGCCCCTTCTCACCAACGATGAGGAGCATCG CGGCTGTCTGCACCATGGGAGCCCCTTCTCACTGACAATGAGGAGCATTC AGAGTGTCTACACCGTGGCCACGCCTTCTCACCGATGCTGAGGAGCACCG A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02647.hp1 HG03130.hp2 HG02055.hp2 HG02647.hp1 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0016 a0002c0002 a0002c0004 a0002c0016	a0002c0002t0013 a0002c0004t0013 a0002c0016t0004 a0002c0002t0013 a0002c0004t0013 a0002c0016t0004	a0002c0002t0013g0017 a0002c0004t0013g0021 a0002c0016t0004g0042 a0002c0002t0013g0017 a0002c0004t0013g0021 a0002c0016t0004g0042	3	106	0.0283	-150	c.81 others(11): Show c.8194_*8343del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4520		chr20	TogoVar
CDH4_chr20_61247261_61945617	61945149	CGTGGCCG others(143): Show CGTGGCCGCCCCTTCTCACCAACGATGAGGAGCATCGCGGCTGTCTGCAC CATGGGAGCCCCTTCTCACTGACAATGAGGAGCATTCAGAGTGTCTACAC CGTGGCCACGCCTTCTCACCGATGCTGAGGAGCACCGAGACTGTCTGCAC T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03579.hp1 NA18906.hp1 HG03195.hp1 HG03579.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0012 a0003c0017 a0001c0003 a0001c0012 a0003c0017	a0001c0003t0036 a0001c0012t0001 a0003c0017t0002 a0001c0003t0036 a0001c0012t0001 a0003c0017t0002	a0001c0003t0036g0043 a0001c0012t0001g0008 a0003c0017t0002g0053 a0001c0003t0036g0043 a0001c0012t0001g0008 a0003c0017t0002g0053	3	106	0.0283	-150	c.82 others(11): Show c.8207_*8356del	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		4533		chr20	TogoVar

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