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 genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
CACNG7_chr19_53904278_53948950	53922871	GAGTTGAC others(154): Show GAGTTGACTCAGGCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTG GTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTC ATTGGTGGAGTTGTCCCAGGACTGGTCATTGGTGCAGTTGCCCCAGGCCT GGTCATTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	364	0.0028	-161	c.424 others(17): Show c.424+7372_424+7532del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923185	TCATTGGT others(154): Show TCATTGGTGGGGTTGTCCCAGGCTCGTCATTGGTGGAGTTGCCCCAGGTC TGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGCAGTTGCCCCA GGTCTGGTCATTGGTGGAGTTGACTCAGGCTGGTCATTGGTGGAGTTGCC CCAGGCCTGGTC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02280.hp2 HG01496.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0335 a0001c0001t0001g0245 a0001c0001t0001g0335	2	364	0.0055	-161	c.424 others(17): Show c.424+7681_424+7841del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923529	TCTGGTCA others(154): Show TCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGTCC CAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTG TCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTCATTGGTGGA GTTGTCCCAGGC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02622.hp2 HG02809.hp2 others(3): Show HG00597.hp1 HG02622.hp2 HG02809.hp2 HG03831.hp2 HG04228.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0001 a0001c0001t0024	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0024g0014	6	364	0.0165	-161	c.424 others(17): Show c.424+8071_424+8231del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923576	TCCCAGGC others(154): Show TCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAG TTGTCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTCTGGTCATTGGT GGAGTTGTCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCAT TGGTGGAGTTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00738.hp1 others(25): Show HG00099.hp1 HG00621.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01516.hp1 HG01975.hp2 HG02055.hp2 HG02080.hp1 HG02258.hp1 HG02300.hp2 HG02976.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp2 NA18747.hp1 NA18950.hp1 NA18959.hp2 NA19000.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19079.hp2 NA19090.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0007 a0001c0001t0001g0172 a0001c0001t0001g0246 others(24): Show a0001c0001t0001g0007 a0001c0001t0001g0172 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0313 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0338 a0001c0001t0002g0178 a0001c0001t0002g0264 a0001c0001t0002g0314 a0001c0001t0002g0329 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0005g0055	28	364	0.0769	-161	c.424 others(17): Show c.424+8078_424+8238del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM2_chr3_84953989_86079429	85768948	AGTATATA others(154): Show AGTATATATACACATATATACATATATAGTATATATACACATATATACAT ATATAGTATATATACACATATATACATATATAGTATATATACACATATAT ACATATATAGTATATATACACATATATACATATATAGTATATATACACAT ATATACATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01516.hp1 HG01517.hp1 others(5): Show HG00280.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG02258.hp1 HG02280.hp1 HG03927.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 a0001c0001t0001 a0001c0001t0002 a0001c0001t0031	a0001c0001t0001g0115 a0001c0001t0002g0044 a0001c0001t0002g0045 others(5): Show a0001c0001t0001g0115 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0078 a0001c0001t0002g0102 a0001c0001t0031g0124	8	146	0.0548	-161	c.89- others(17): Show c.89-32977_89-32817del	CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCZ1B_chr7_6793937_6831275	6818554	AGAAAGAA others(154): Show AGAAAGAAAGACAGAAAGAAAGACAGAAAGAAAGACAGACAGAAAGAAAG AAAGAAAGAAAGACAAGAAAGAAAGAAAGACAAGAAAGAAAGAAAGACAG AAAGAAAGACAGACAGAAAGAAAGAAAGAAAGAAAGAAAGACAAGAAAGA AAGAAAGACAAG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG02559.hp2 others(1): Show HG00639.hp1 HG01109.hp1 HG02559.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0004 a0001c0007t0007 a0001c0001t0004 a0001c0007t0007	a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0007t0007g0027 others(1): Show a0001c0001t0004g0183 a0001c0001t0004g0184 a0001c0007t0007g0027 a0001c0007t0007g0028	4	354	0.0113	-161	c.698 others(17): Show c.698+1051_698+1211del	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	7/14			chr7	TogoVar
CFAP97D2_chr13_114174257_114228085	114213621	TACCCCTG others(154): Show TACCCCTGGACAAGCTCTAGGACCACAGACCCCCACCCCTGTGGAAGCTC CAGGACCATGAACCCCACCCCTGCACAAGCTCCAGGACCATGAACCCTAC CCCTATGGAAGCTCCAGGACCACAGACCCCATCCCTGTGGAAGCTCCAGG ACCACAGACCCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0324 a0001c0001t0010g0325 a0001c0001t0001g0324 a0001c0001t0010g0325	2	400	0.0050	-161	c.291 others(17): Show c.291-8863_291-8703del	CFAP97D2	ENSG00000283361.3	transcript	ENST00000636692.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLMN_chr14_95176940_95324908	95245105	AAGGTGGA others(154): Show AAGGTGGACTTCAAGTTCAAGGATGAATTTCCTGACCGCAAAGTGAAAAA GGAACTGTAACTGGTTATATTATATATATATATATATATAATATATATAT ATATTATATATATATATATATTATATATATATATTATATATATATATATA ATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	276	0.0036	-161	c.83- others(17): Show c.83-15133_83-14973del	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
COL4A2_chr13_110302284_110518209	110355551	GGGGGAGG others(154): Show GGGGGAGGGCTGTACTAGCTCACCTGTGTGGGGGGAGGGCAGTACCAGCT CACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGTGTGGGG GAGGGCTGCAGTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTC ACCTGTGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03209.hp2 HG03225.hp1 others(1): Show HG02055.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0011 a0002c0019 others(1): Show a0001c0002 a0001c0011 a0002c0019 a0002c0121	a0001c0002t0001 a0001c0011t0022 a0002c0019t0006 others(1): Show a0001c0002t0001 a0001c0011t0022 a0002c0019t0006 a0002c0121t0016	a0001c0002t0001g0101 a0001c0011t0022g0358 a0002c0019t0006g0131 others(1): Show a0001c0002t0001g0101 a0001c0011t0022g0358 a0002c0019t0006g0131 a0002c0121t0016g0238	4	372	0.0108	-161	c.100 others(17): Show c.100-1909_100-1749del	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
DPP6_chr7_154047398_154899285	154063333	TCTGGCTC others(154): Show TCTGGCTCTTAGGAACCCCATTGCAGGAGGGTGTGGCACCCCCCACGAGG GTGGGGACTGAGAGCTATCCCCTCTTCCGCCCCTGGCTGTTGGTACCCCC ATCGCAAGGGGGGGAGGCACCTCCCGCGAGGCAGGGACTGAGAGCCATTC CCTCTTCCCCCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0013 a0001c0016t0013	a0001c0016t0013g0014 a0001c0016t0013g0014	1	38	0.0263	-161	c.243 others(19): Show c.243+10281_243+10441del	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
ERICH1_chr8_659200_736224	696273	GCTCGCTC others(154): Show GCTCGCTCCTCTCACCCTTCACTCCTCTCCTTCCTCCCCATCAGCCTGCG CTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCGC TCGCTCCTCACCCTCCACTCTTCTCCTTCTCCACTCCTCTCCTTCCTCCC CATCAGCCTGCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02897.hp2 HG03195.hp2 others(2): Show HG02572.hp2 HG02897.hp2 HG03195.hp2 HG03471.hp2 NA20129.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0001c0009 a0009c0012 a0001c0001 a0001c0009 a0009c0012	a0001c0001t0002 a0001c0009t0001 a0009c0012t0001 a0001c0001t0002 a0001c0009t0001 a0009c0012t0001	a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 others(2): Show a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0009t0001g0120 a0009c0012t0001g0119	5	378	0.0132	-161	c.170 others(17): Show c.170-3822_170-3662del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ESYT2_chr7_158725997_158834509	158729494	AGCAGGTG others(154): Show AGCAGGTGTGGAGATAGTGGGGGAGGAGCAAGCGTGGAGGCGGGAGGGTT GGAGCAGGTGTGGAGGTGCTGTGGAAGAGGGGCAAGTGAGGATGTGCTGG CGGGGAGGAGCAAGTGTGGAGGTGGGGGCGTTGGAGCAGGTATGGAGGTG CTGGGGAGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	370	0.0027	-161	c.45 others(11): Show c.4552_*4712del	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1502		chr7	TogoVar
EXOC2_chr6_480154_698139	675519	AGAAAGGA others(154): Show AGAAAGGACAGGTTCCTCTGGAGACTCTGAGGTTCCCCATACTCTTCAAC ATTACGGAAAGGACAGCCTCCTCTGGCAACTGCGGTTCCCCATACTCTTC AGCATTACAGAAAGGACAGGTTCCTCTGGCGACTGCAGTTCCCCATACTC TTCAACATTACG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp1 HG01167.hp1 others(23): Show HG00323.hp2 HG01123.hp1 HG01167.hp1 HG02015.hp1 HG02055.hp2 HG02132.hp1 HG02451.hp2 HG02717.hp1 HG02723.hp1 HG03041.hp1 HG03942.hp1 NA18522.hp2 NA18946.hp1 NA18971.hp2 NA18979.hp1 NA18981.hp2 NA18983.hp1 NA18998.hp1 NA18999.hp1 NA19043.hp2 NA19055.hp2 NA19074.hp1 NA19077.hp2 NA19086.hp1 NA20129.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0004c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0006 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0004c0014t0003	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0215 others(23): Show a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0215 a0001c0001t0003g0217 a0001c0001t0005g0258 a0001c0001t0007g0212 a0001c0001t0022g0214 a0001c0001t0025g0216 a0001c0001t0027g0272 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0222 a0001c0003t0002g0226 a0001c0003t0003g0205 a0001c0003t0003g0223 a0001c0003t0006g0209 a0001c0004t0001g0003 a0001c0004t0001g0213 a0001c0004t0001g0220 a0001c0004t0004g0210 a0001c0004t0004g0211 a0001c0004t0005g0219 a0001c0004t0005g0221 a0001c0004t0005g0224 a0001c0004t0005g0225 a0004c0014t0003g0218	26	272	0.0956	-161	c.-44 others(19): Show c.-44+17339_-44+17499del	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	1/27			chr6	TogoVar
EXOC4_chr7_133248078_134070761	133857164	ATATATAT others(154): Show ATATATATATATATATATATATATATATATATATATATTTTACCTCTACT TAACCTCCCTGGATGATTGTCTTAGTGTCACATATATATATATATATATA TATATATATACACGTATATATATATATATATATACACGTATATATATATA TATATATACACG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	102	0.0098	-161	c.173 others(21): Show c.1735-38397_1735-38237del	EXOC4	ENSG00000131558.15	transcript	ENST00000253861.5	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71680545	TCCCTCCC others(154): Show TCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTC TCTCTCTTCCTCCCTCCCTCTCTCCCTCCTTCCTTTCCTTCCTTCCTCCC TCTCTCCCTCCTTCCTTCCTTTCTTCCTTTCCTTTTGTTTCCTTTCCTTT CCTTTCTTTTCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00642.hp1 others(23): Show HG00323.hp1 HG00323.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG02129.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03710.hp2 NA18983.hp1 NA19000.hp2 NA19060.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0003t0002 a0001c0004t0003 a0001c0004t0005 a0002c0010t0003	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0041 others(23): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0002g0018 a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0033 a0001c0001t0004g0035 a0001c0001t0005g0051 a0001c0001t0007g0055 a0001c0001t0007g0059 a0001c0001t0007g0062 a0001c0001t0009g0061 a0001c0001t0013g0075 a0001c0001t0016g0043 a0001c0002t0003g0004 a0001c0002t0003g0006 a0001c0002t0007g0060 a0001c0002t0008g0025 a0001c0003t0002g0067 a0001c0004t0003g0013 a0001c0004t0005g0058 a0002c0010t0003g0009	26	76	0.3421	-161	c.150 others(19): Show c.1500+3240_1500+3400del	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10			chr7	TogoVar
GALNT9_chr12_132191372_132334589	132212485	GGAAACCC others(154): Show GGAAACCCCACCCGGGTCTGCAGCCCTCAGACCTCGACACGGAAACCCCA CCCGGGTCTGCAGCCCTCAGACCTCGACACGGAAACCCCACCCGGGTCTG CAGCCCTCAGACCTCGACACGGAAACCCCACCCGGGTCTAGCAGCCCTCA GACCTCGACACA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18906.hp1 HG01109.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0025t0012 a0001c0001t0001 a0001c0025t0012	a0001c0001t0001g0150 a0001c0025t0012g0048 a0001c0001t0001g0150 a0001c0025t0012g0048	2	183	0.0109	-161	c.107 others(19): Show c.1078-8956_1078-8796del	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GOLGA8M_chr15_28693583_28717421	28707022	CCACCATA others(154): Show CCACCATAGGAGACAGTTACTATGATTCCCTCTATTGTGGAGATAAAAAA CATGGAGTATTTGAGGTTAAGTGCTTGCCTAAGTTCACTTAGGCAGAGCT GGGATATAAACACCCAGGTCTATCCAATTCTCTAAGCCCGTTTTTCTTGC TGGGGATGGGGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(181): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02698.hp1 HG02735.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp2 HG03834.hp2 HG04184.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19084.hp1 NA19087.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0002 a0004 a0005 others(33): Show a0002 a0004 a0005 a0009 a0010 a0016 a0017 a0018 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0037 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056	a0002c0002 a0002c0005 a0002c0052 others(42): Show a0002c0002 a0002c0005 a0002c0052 a0002c0060 a0002c0066 a0004c0004 a0005c0006 a0005c0042 a0005c0045 a0009c0021 a0009c0022 a0010c0011 a0016c0020 a0017c0019 a0018c0018 a0023c0040 a0024c0032 a0025c0030 a0026c0031 a0027c0058 a0027c0059 a0028c0055 a0028c0056 a0029c0029 a0030c0028 a0031c0033 a0037c0097 a0039c0048 a0040c0049 a0041c0053 a0042c0057 a0043c0061 a0044c0050 a0045c0054 a0046c0063 a0047c0065 a0048c0064 a0049c0062 a0050c0051 a0051c0047 a0052c0043 a0053c0044 a0054c0046 a0055c0068 a0056c0067	a0002c0002t0002 a0002c0002t0004 a0002c0002t0029 others(53): Show a0002c0002t0002 a0002c0002t0004 a0002c0002t0029 a0002c0002t0034 a0002c0002t0036 a0002c0002t0038 a0002c0005t0002 a0002c0052t0002 a0002c0060t0002 a0002c0066t0002 a0004c0004t0002 a0004c0004t0037 a0005c0006t0003 a0005c0006t0016 a0005c0042t0003 a0005c0045t0003 a0009c0021t0007 a0009c0021t0031 a0009c0022t0006 a0010c0011t0006 a0010c0011t0062 a0016c0020t0011 a0017c0019t0003 a0018c0018t0003 a0023c0040t0023 a0024c0032t0002 a0025c0030t0002 a0026c0031t0024 a0027c0058t0002 a0027c0059t0002 a0028c0055t0004 a0028c0056t0002 a0029c0029t0003 a0029c0029t0026 a0030c0028t0003 a0030c0028t0017 a0031c0033t0002 a0037c0097t0002 a0039c0048t0007 a0040c0049t0007 a0041c0053t0002 a0042c0057t0002 a0043c0061t0004 a0044c0050t0007 a0045c0054t0002 a0046c0063t0002 a0047c0065t0063 a0048c0064t0001 a0049c0062t0002 a0050c0051t0032 a0051c0047t0002 a0052c0043t0003 a0053c0044t0011 a0054c0046t0025 a0055c0068t0035 a0056c0067t0002	a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0007 others(109): Show a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0023 a0002c0002t0002g0052 a0002c0002t0002g0223 a0002c0002t0002g0229 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0246 a0002c0002t0002g0253 a0002c0002t0002g0258 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0267 a0002c0002t0002g0269 a0002c0002t0002g0273 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0282 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0004g0009 a0002c0002t0004g0259 a0002c0002t0004g0271 a0002c0002t0029g0255 a0002c0002t0034g0252 a0002c0002t0036g0257 a0002c0002t0038g0243 a0002c0005t0002g0004 a0002c0005t0002g0051 a0002c0005t0002g0241 a0002c0005t0002g0270 a0002c0005t0002g0272 a0002c0052t0002g0240 a0002c0060t0002g0251 a0002c0066t0002g0225 a0004c0004t0002g0017 a0004c0004t0002g0024 a0004c0004t0002g0049 a0004c0004t0002g0050 a0004c0004t0002g0230 a0004c0004t0002g0231 a0004c0004t0002g0232 a0004c0004t0002g0238 a0004c0004t0002g0239 a0004c0004t0002g0245 a0004c0004t0002g0262 a0004c0004t0002g0280 a0004c0004t0037g0263 a0005c0006t0003g0005 a0005c0006t0003g0075 a0005c0006t0003g0077 a0005c0006t0003g0078 a0005c0006t0016g0070 a0005c0006t0016g0071 a0005c0042t0003g0068 a0005c0045t0003g0060 a0009c0021t0007g0220 a0009c0021t0007g0221 a0009c0021t0031g0219 a0009c0022t0006g0026 a0010c0011t0006g0018 a0010c0011t0062g0290 a0016c0020t0011g0072 a0016c0020t0011g0073 a0016c0020t0011g0076 a0017c0019t0003g0062 a0017c0019t0003g0063 a0017c0019t0003g0064 a0018c0018t0003g0028 a0018c0018t0003g0067 a0023c0040t0023g0053 a0024c0032t0002g0274 a0024c0032t0002g0275 a0025c0030t0002g0234 a0025c0030t0002g0264 a0026c0031t0024g0055 a0027c0058t0002g0249 a0027c0059t0002g0250 a0028c0055t0004g0254 a0028c0056t0002g0268 a0029c0029t0003g0059 a0029c0029t0026g0074 a0030c0028t0003g0066 a0030c0028t0017g0065 a0031c0033t0002g0276 a0031c0033t0002g0283 a0037c0097t0002g0281 a0039c0048t0007g0216 a0040c0049t0007g0217 a0041c0053t0002g0247 a0042c0057t0002g0224 a0043c0061t0004g0256 a0044c0050t0007g0218 a0045c0054t0002g0248 a0046c0063t0002g0222 a0047c0065t0063g0291 a0048c0064t0001g0266 a0049c0062t0002g0265 a0050c0051t0032g0215 a0051c0047t0002g0228 a0052c0043t0003g0069 a0053c0044t0011g0079 a0054c0046t0025g0061 a0055c0068t0035g0227 a0056c0067t0002g0226	184	441	0.4172	-161	c.592 others(15): Show c.592-484_592-324del	GOLGA8M	ENSG00000188626.7	transcript	ENST00000563027.2	protein_coding	8/18			chr15	TogoVar
GPC6_chr13_93221807_94413020	93282656	GTTTAAAT others(154): Show GTTTAAATAATCAAATATTTTACACAGAAAAATCACTGCCATCATCCCTT TCTCCCCCTTCCATGGAGATAATCACTTTAAGCTCTTTTACATGGTTCTT TTGGTAATTAATTCAAATCTCTAAACAATATGCTCATTTTGCTACATTTT GATTTTAAATTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03098.hp1 HG03579.hp2 HG01167.hp1 HG03098.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0014 a0001c0003t0030 a0001c0001t0008 a0001c0003t0014 a0001c0003t0030	a0001c0001t0008g0060 a0001c0003t0014g0021 a0001c0003t0030g0024 a0001c0001t0008g0060 a0001c0003t0014g0021 a0001c0003t0030g0024	3	76	0.0395	-161	c.160 others(19): Show c.160+55367_160+55527del	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
INF2_chr14_104684618_104727535	104685637	GGGATGGG others(154): Show GGGATGGGTGGATGAGTGGATGATGGCTGGGTAGGTGGATGGGTGGATGA GTAGGTGGATGGATGTGTTGGTGGATAGGTGGGTGGGTGGATGGATGAAT GGATGGGCAGATGGATGGATAAGGGTGGGTGCATGGGTGGATGAATGGGT GAGTAGGTGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0199 a0001c0001t0007g0199	1	380	0.0026	-161	c.-41 others(11): Show c.-4111_-3951del	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding		3980		chr14	TogoVar
ING1_chr13_110708700_110728339	110725192	GTGAGGCT others(154): Show GTGAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCC TCCCAAAGTGCTGGGATTACAGGCATGAGCTACAGCACCTAGCCCCTTAG GATATTTTTCTAAGGCATCACAAGTTACACATCCAAACTCTTCAATGGTA TAATATTTTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0032 a0001c0001t0023g0032	1	438	0.0023	-161	c.52 others(11): Show c.5261_*5421del	ING1	ENSG00000153487.13	transcript	ENST00000333219.9	protein_coding		1854		chr13	TogoVar
ITGA11_chr15_68291532_68437163	68397563	AATATTTA others(154): Show AATATTTAAAATATTATATTTAAAATATTATAAAATATTTAAAATATTAT ATTTAAAATATTATATTTAATATATATTTAAAATATTTTAAAATATATAT TATAAAATATTTAAAATATTATATTTAAAATATTATATTTAAAATATTAT ATTTAAAATATT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0004 a0004	a0004c0079 a0004c0079	a0004c0079t0092 a0004c0079t0092	a0004c0079t0092g0027 a0004c0079t0092g0027	1	242	0.0041	-161	c.164 others(17): Show c.164+5194_164+5354del	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
JAKMIP3_chr10_132060946_132189858	132160786	GGGGGGGG others(154): Show GGGGGGGGTCTCCCTGTGTGATGCTGGGGGGGGCCTCTTCCTGTGTGATG CTGGTGGGGGTCTACTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTGT GATGCAGGCGGTGGCCTCTTCCTGTGTGATGCTAGGGGGTCTCTTCCTGT GTGATGCTGGGT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA20905.hp2 HG01167.hp1 NA20905.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0042 a0002c0004t0004g0051 a0002c0004t0004g0042 a0002c0004t0004g0051	2	158	0.0127	-161	c.222 others(19): Show c.2221-2419_2221-2259del	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNH6_chr17_63518358_63551727	63541418	AGCTGGGA others(154): Show AGCTGGGATTACAGGCCACCATGCCCTGCTAATTTTTGTTTTTGCTGTTG TTGTTTTTAGTAGAGATGCGGTTTCACCGTGTTGGCCAGACTGGTCTCGA ACCGACCTCAAATAATCCACTACCCTCAGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02027.hp1 others(2): Show HG01243.hp1 HG01884.hp2 HG02027.hp1 HG02723.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0020 a0001c0002 a0001c0005 a0002c0020	a0001c0002t0002 a0001c0005t0002 a0002c0020t0001 a0001c0002t0002 a0001c0005t0002 a0002c0020t0001	a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 others(2): Show a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0005t0002g0189 a0002c0020t0001g0051	5	324	0.0154	-161	c.195 others(17): Show c.1955-818_1955-658del	KCNH6	ENSG00000173826.15	transcript	ENST00000314672.10	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
LATS2_chr13_20968036_21066586	21007575	ATATATAT others(154): Show ATATATATATATAGTATATATATATATAGTGTGTATATATATATATAGTG TATATATATATATATATATAGTGTGTGTATATATATATAGTGTGTATATA TATATATAGTATATATATATATATAGTATGTATATATATATATATATAGT ATATATATATAG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0018 a0002c0014t0018	a0002c0014t0018g0041 a0002c0014t0018g0041	1	316	0.0032	-161	c.343 others(19): Show c.343-16332_343-16172del	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LCN15_chr9_136754634_136769518	136769357	ACCCCTCC others(154): Show ACCCCTCCATGCACTGCCCCCCGCCACCACCCCATGCACTGCCCCCCCCG CCACCCCGCCACCCCCCCATGCACTTCCCCCCCGCCACCCCGCCACCCCC CATGCACTGCCCCCCCCGACACCCCGACACCCCCCATGCACTGCCCCCCC GCCACCCCGCCA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02809.hp2 HG03492.hp1 others(3): Show HG02055.hp2 HG02809.hp2 HG03492.hp1 HG03927.hp1 NA18994.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	356	0.0169	-161	c.-50 others(11): Show c.-5030_-4870del	LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding		4840		chr9	TogoVar
LDHAL6A_chr11_18450856_18484601	18467863	ATATATAT others(154): Show ATATATATATATACACACATATATATATATATATATATATATATATATAT ATATATACACACACATATATATATACACACACATATATATATACGTATAT ATATACGTATATATATACGTATATATATGCATATATATACGTATATATAT ACATATATATAC	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18972.hp1 NA18994.hp2 others(2): Show NA18948.hp1 NA18972.hp1 NA18994.hp2 NA19002.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0002 a0001c0001t0009 a0001c0001t0010	a0001c0001t0002g0017 a0001c0001t0002g0188 a0001c0001t0002g0189 others(2): Show a0001c0001t0002g0017 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0009g0017 a0001c0001t0010g0164	5	420	0.0119	-161	c.418 others(17): Show c.418+2054_418+2214del	LDHAL6A	ENSG00000166800.11	transcript	ENST00000280706.3	protein_coding	3/6			chr11	TogoVar
LIPG_chr18_49557057_49604185	49579038	GGGAGAGG others(154): Show GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02809.hp2 others(2): Show HG02572.hp2 HG02630.hp1 HG02809.hp2 HG02895.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0078 a0001c0001t0079 a0001c0001t0017 a0001c0001t0078 a0001c0001t0079	a0001c0001t0017g0285 a0001c0001t0017g0287 a0001c0001t0017g0288 others(2): Show a0001c0001t0017g0285 a0001c0001t0017g0287 a0001c0001t0017g0288 a0001c0001t0078g0286 a0001c0001t0079g0289	5	384	0.0130	-161	c.794 others(17): Show c.794-2374_794-2214del	LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	857462	TCGGGACG others(154): Show TCGGGACGGGTGTGAGTGGTGTCACCGGACGGGTGTGAGTGGTGTCTCGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACG GGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTG TGAGTGATGTCA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0010 a0010	a0010c0047 a0010c0047	a0010c0047t0010 a0010c0047t0010	a0010c0047t0010g0281 a0010c0047t0010g0281	1	294	0.0034	-161	c.153 others(19): Show c.1530-2917_1530-2757del	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRBA_chr4_150259435_151020284	150658521	CCCTCTCC others(154): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTGCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	180	0.0056	-161	c.592 others(21): Show c.5921+24869_5921+25029del	LRBA	ENSG00000198589.15	transcript	ENST00000651943.2	protein_coding	37/56			chr4	TogoVar
LYPD8_chr1_248734415_248760759	248746815	CCAGCACC others(154): Show CCAGCACCCACCCAGGGCATCCCCCGCACGGCCAGCACCCACCCAGGGCA TCACCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAC CCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGC CCGCACGGCCAG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00438.hp1 others(56): Show HG00099.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00673.hp1 HG01168.hp1 HG01169.hp1 HG02027.hp1 HG02040.hp2 HG02109.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG03486.hp2 HG04228.hp1 NA18941.hp1 NA18941.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18967.hp2 NA18970.hp2 NA18974.hp2 NA18975.hp1 NA18980.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19056.hp1 NA19057.hp1 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19090.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0004c0004t0002 a0001c0001t0001 a0001c0001t0002 a0004c0004t0002	a0001c0001t0001g0010 a0001c0001t0001g0167 a0001c0001t0001g0199 others(39): Show a0001c0001t0001g0010 a0001c0001t0001g0167 a0001c0001t0001g0199 a0001c0001t0001g0215 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0004c0004t0002g0044	59	374	0.1578	-161	c.337 others(17): Show c.337+1313_337+1473del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248746836	CCCCGCAC others(154): Show CCCCGCACGGCCAGCACCCACCCAGGGCATCACCCGCACGGCCAGCACCC ACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCA CGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCA CCCAGGGCATCG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00673.hp2 others(13): Show HG00099.hp2 HG00609.hp2 HG00673.hp2 HG01346.hp1 HG01975.hp2 HG01978.hp2 HG02738.hp2 HG03490.hp2 HG04184.hp2 NA18950.hp2 NA18966.hp2 NA18985.hp2 NA19012.hp1 NA19054.hp2 NA19081.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0027 others(9): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0133 a0001c0001t0001g0276 a0001c0001t0001g0277	16	374	0.0428	-161	c.337 others(17): Show c.337+1292_337+1452del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6			chr1	TogoVar
METTL26_chr16_629430_641305	631718	CTCCCATC others(154): Show CTCCCATCCACTTCTCCCACCCCTTCACTGCCTCTCCTTCCATCCTCTCC TCCCACCCTCTCCTCCCATCCACTCCTCCCATCCACTTCTTCCATCCTCT TCTCCCACCCCGTCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTC CCATCCACTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	404	0.0025	-161	c.27 others(11): Show c.2718_*2878del	METTL26	ENSG00000130731.16	transcript	ENST00000301686.13	protein_coding		2711		chr16	TogoVar
NXNL1_chr19_17450425_17465926	17463797	GAAGGAGA others(154): Show GAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGAAGAAGAAAAGAAGAAGAAGAAAAGAAGAAGA AGAAGAAGAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(43): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01168.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp2 HG02015.hp1 HG02040.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02486.hp2 HG02622.hp1 HG02717.hp2 HG02809.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp2 HG03491.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp2 NA18984.hp1 NA18992.hp2 NA19002.hp1 NA19010.hp1 NA19030.hp1 NA19066.hp1 NA19086.hp2 NA19089.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0110 a0001c0009t0001g0071	46	408	0.1128	-161	c.-30 others(11): Show c.-3089_-2929del	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2872		chr19	TogoVar
OPCML_chr11_132409981_133537501	133458420	ATATATAC others(154): Show ATATATACACATATATACACGTGTGTGTATATATATACACATATATACAC GTGTGTGTATATACACATATATACACGTGTGTGTGTATATACACATATAT ACACTGTGTGTGTATACACATATATACACGTGTGTGTGTATACACATATA TACACGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0055 a0001c0001t0027g0055	1	68	0.0147	-161	c.61+ others(17): Show c.61+73683_61+73843del	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
OR1L3_chr9_122670130_122681104	122673461	GCTTACCT others(154): Show GCTTACCTGGAAAGGTACTCTGACCCAAGAGTACCTTTGACTCTTATTAA CTGTAGTCACCTGCTGTGTAATAGATCCCCAGAACCTTATTCTATCATTT TACACTTTAAGATAATCCATCTGCTCATTGTCTAAAATACCATGAGAGAT TAATTAATTAAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01884.hp2 HG01891.hp2 others(18): Show HG01496.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02258.hp2 HG02280.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 NA19043.hp1	a0003 a0005 a0007 others(3): Show a0003 a0005 a0007 a0008 a0010 a0011	a0003c0003 a0005c0006 a0007c0008 others(3): Show a0003c0003 a0005c0006 a0007c0008 a0008c0009 a0010c0012 a0011c0013	a0003c0003t0000 a0005c0006t0000 a0007c0008t0000 others(3): Show a0003c0003t0000 a0005c0006t0000 a0007c0008t0000 a0008c0009t0000 a0010c0012t0000 a0011c0013t0000	a0003c0003t0000g0000 a0005c0006t0000g0000 a0007c0008t0000g0000 others(3): Show a0003c0003t0000g0000 a0005c0006t0000g0000 a0007c0008t0000g0000 a0008c0009t0000g0000 a0010c0012t0000g0000 a0011c0013t0000g0000	21	380	0.0553	-161	c.-16 others(11): Show c.-1668_-1508del	OR1L3	ENSG00000171481.5	transcript	ENST00000304820.5	protein_coding		1668		chr9	TogoVar
PDIA4_chr7_148998062_149033505	149033344	TCAGGTTC others(154): Show TCAGGTTCAAGTGATTCTCCTGCCTCAGACTCCCGAGTAGCTGGGATTAC AGGCATGTGCCACCATGCCCAGCCAATTTTTGTATTTTTAGTAGAGATGG GGTTTTACCATGTTGACCAGGCTGGTCTTGAACTCCAGACCTCAGGTGAT CTGCCCGCCTCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02300.hp2 HG01975.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0022 a0001c0001t0001 a0001c0001t0022	a0001c0001t0001g0001 a0001c0001t0022g0239 a0001c0001t0001g0001 a0001c0001t0022g0239	2	352	0.0057	-161	c.-50 others(11): Show c.-5097_-4937del	PDIA4	ENSG00000155660.11	transcript	ENST00000652332.1	protein_coding		4840		chr7	TogoVar
PEX5_chr12_7184686_7216459	7196811	GTAATAAT others(154): Show GTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATA TAATGTAATAATTATATATGTCACATATAATGTAATAATTATATATGTCA CATATAATGTAATAATTATATGTCACATATAATGTAATAATTATATGTCA CATATAATGTAA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	428	0.0023	-161	c.449 others(17): Show c.449-2195_449-2035del	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PKP3_chr11_389209_409908	401750	CCCCCGCC others(154): Show CCCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCCCGGCCCCGC TCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCC CCGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCC CGGCTCCACTGA	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	216	0.0046	-161	c.173 others(19): Show c.1737+1051_1738-1162del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402462	CCCCGGAC others(154): Show CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGC CCCGCTCACCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCC CGGCCCCGCTCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00609.hp2 others(58): Show HG00099.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01358.hp1 HG01515.hp2 HG01884.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp2 HG02630.hp1 HG02647.hp2 HG03239.hp1 HG03239.hp2 HG03704.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp1 NA18970.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19067.hp1 NA19067.hp2 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp2 NA20805.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0009	a0001c0001 a0001c0005 a0001c0006 others(7): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0018 a0004c0015 a0005c0037 a0008c0024 a0009c0023	a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 others(7): Show a0001c0001t0001 a0001c0005t0001 a0001c0006t0001 a0001c0009t0001 a0001c0011t0001 a0001c0018t0001 a0004c0015t0001 a0005c0037t0005 a0008c0024t0002 a0009c0023t0002	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 others(58): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0005t0001g0029 a0001c0005t0001g0083 a0001c0006t0001g0027 a0001c0006t0001g0058 a0001c0006t0001g0060 a0001c0006t0001g0061 a0001c0006t0001g0206 a0001c0009t0001g0128 a0001c0009t0001g0129 a0001c0009t0001g0130 a0001c0009t0001g0138 a0001c0009t0001g0171 a0001c0011t0001g0001 a0001c0018t0001g0059 a0004c0015t0001g0042 a0005c0037t0005g0087 a0008c0024t0002g0022 a0009c0023t0002g0052	61	216	0.2824	-161	c.173 others(17): Show c.1738-612_1738-452del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCXD1_chrX_276381_308356	277494	ACATGGGG others(154): Show ACATGGGGACAGGTGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGG GACCTGGGATGTGAGGGGAGGGGTCAGGGCACGTGGGGACAGGAGTGGAC ACCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGGAGGGCTCAGGAGGA CATGGGGACAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0058 a0001c0003t0058	a0001c0003t0058g0103 a0001c0003t0058g0103	1	176	0.0057	-161	c.-42 others(11): Show c.-4211_-4051del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		3886		chrX	TogoVar
PLCXD1_chrX_276381_308356	277495	CATGGGGA others(154): Show CATGGGGACAGGTGTGGGGACAGGAGTGGACACCCCTCAGTGGTCAGGGG ACCTGGGATGTGAGGGGAGGGGTCAGGGCACGTGGGGACAGGAGTGGACA CCCCTCAGTGGTCAGGGGACCTGGGATGTGAGGGGAGGGCTCAGGAGGAC ATGGGGACAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0104 a0001c0003t0104	a0001c0003t0104g0093 a0001c0003t0104g0093	1	176	0.0057	-161	c.-42 others(11): Show c.-4210_-4050del	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		3885		chrX	TogoVar
PXMP2_chr12_132682587_132709985	132693249	CAGTTAGT others(154): Show CAGTTAGTGAGTGCCCTTGCCAGTTAGTTAAGTGAGCGCCCTTAGCCAGT TAGATAGTGAGCGCCCTTAGCCAGTTAGTTAGTGAGCGCCCTTGCCAGTT AGTTAGTGAGCACCCTTGCCAGTTAGTTAGTGAGCTCCCTTAGCCAGTTA GTGAGCTCCCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01346.hp2 others(14): Show HG00140.hp2 HG00733.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01516.hp1 HG01928.hp1 HG01993.hp2 HG02055.hp2 HG02148.hp2 HG02615.hp2 HG02970.hp2 HG03130.hp1 HG03139.hp2 HG03471.hp2 NA19240.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0002 a0004c0006t0002 a0001c0002t0002 a0004c0006t0002	a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0048 others(7): Show a0001c0002t0002g0006 a0001c0002t0002g0009 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0161 a0004c0006t0002g0051	17	350	0.0486	-161	c.237 others(17): Show c.237-2627_237-2467del	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
RAB40C_chr16_585066_634268	631718	CTCCCATC others(154): Show CTCCCATCCACTTCTCCCACCCCTTCACTGCCTCTCCTTCCATCCTCTCC TCCCACCCTCTCCTCCCATCCACTCCTCCCATCCACTTCTTCCATCCTCT TCTCCCACCCCGTCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTC CCATCCACTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	350	0.0029	-161	c.40 others(11): Show c.4097_*4257del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2451		chr16	TogoVar
RPTOR_chr17_80539838_80971368	80963564	GTGCGGCC others(154): Show GTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGC GGCCCTCACCCCGTCCCCTCTGCGTCCCTCACCCCGTCCCCTCTGCGTCC CTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCA CCCCGTCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG06807.hp2 HG02145.hp1 HG02970.hp2 HG06807.hp2	a0001 a0001	a0001c0008 a0001c0011 a0001c0046 a0001c0008 a0001c0011 a0001c0046	a0001c0008t0027 a0001c0011t0024 a0001c0046t0024 a0001c0008t0027 a0001c0011t0024 a0001c0046t0024	a0001c0008t0027g0143 a0001c0011t0024g0147 a0001c0046t0024g0164 a0001c0008t0027g0143 a0001c0011t0024g0147 a0001c0046t0024g0164	3	196	0.0153	-161	c.393 others(17): Show c.3939+530_3940-515del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RUNDC3B_chr7_87623398_87837296	87626300	TATATATG others(154): Show TATATATGTGTCGTATATGTGTCATATATATGTGTCGTATATGTGTCATA TATATGTGTCATATATATGTGTCATATGTATGTGTCATATATATGTGTCA TATGTATGTGTCATATATATGTGTCATATGTATGTGTCATATATGTGTCA TATATATGTGTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0189 a0001c0001t0011g0189	1	202	0.0050	-161	c.-25 others(11): Show c.-2523_-2363del	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2097		chr7	TogoVar
SERPINB9_chr6_2882270_2908309	2907555	TTGTGTGT others(154): Show TTGTGTGTGTGCTCGAGTACGTGTGTCGATGTTGTGTGTGCTCGAGTACG TGTGTTGAGGTTGTGTGTGTGTGTGCTCGAGTACGTGTGTCGAGGTTGTG TGTGTGCGCTTGAGTACGTGTGTCGAGGTTGTGTGTGTGCTCGAGTACGT GTGTCGAGGTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0150 a0001c0001t0003g0150	1	462	0.0022	-161	c.-45 others(11): Show c.-4526_-4366del	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding		4247		chr6	TogoVar
SIGIRR_chr11_400716_419999	402462	CCCCGGAC others(154): Show CCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCC ACTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGC CCCGCTCACCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCC CGGCCCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00609.hp1 others(53): Show HG00099.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp1 HG00741.hp1 HG01175.hp2 HG01258.hp1 HG01358.hp1 HG01517.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02148.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02895.hp1 HG02922.hp2 HG03239.hp1 HG03239.hp2 HG03704.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp2 NA18964.hp1 NA18969.hp2 NA18974.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18995.hp2 NA19005.hp2 NA19043.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19085.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA20752.hp1 NA20805.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0007 a0006c0011 a0001c0001 a0003c0007 a0006c0011	a0001c0001t0001 a0003c0007t0001 a0006c0011t0001 a0001c0001t0001 a0003c0007t0001 a0006c0011t0001	a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0099 others(53): Show a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0234 a0003c0007t0001g0199 a0006c0011t0001g0190	56	242	0.2314	-161	c.32 others(11): Show c.3273_*3433del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3253		chr11	TogoVar
SLC2A13_chr12_39750025_40111081	39934786	ATGTAGTT others(154): Show ATGTAGTTCTCTAAGGTTTAATCTGTCCAGTAAGAAATGATCTTATCGAA ATAAATGAAGAAGTTCTAGCAAGAAACACTGTTCATTTCTCTTCCTGCCA TGAATGGCAGGTCATCAGACTATTTGTCTCTGCATGGAGCGGCTTAATAG CATTTGAAATCC	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0130	1	214	0.0047	-161	c.103 others(21): Show c.1034+16310_1034+16470del	SLC2A13	ENSG00000151229.13	transcript	ENST00000280871.9	protein_coding	4/9			chr12	TogoVar
SLC7A1_chr13_29504414_29600688	29559198	AGAATGTG others(154): Show AGAATGTGAGTGAGGGGGAGTGAATGTGAGTGACGGGGAGTGAATGTGAG TGAGGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGA GAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGA GTGAGGGGGAGT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0171 a0001c0002t0002g0171	1	330	0.0030	-161	c.-11 others(19): Show c.-114-5499_-114-5339del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559311	AGGGGGAG others(154): Show AGGGGGAGAGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTG AATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGAGAATGTGAGTG AGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTG AATGTGAGTGAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01928.hp2 HG01993.hp1 others(3): Show HG00280.hp2 HG01928.hp2 HG01993.hp1 HG02486.hp1 HG02683.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0013 a0001c0002t0009 a0001c0001t0003 a0001c0001t0013 a0001c0002t0009	a0001c0001t0003g0307 a0001c0001t0013g0024 a0001c0001t0013g0025 others(3): Show a0001c0001t0003g0307 a0001c0001t0013g0024 a0001c0001t0013g0025 a0001c0001t0013g0026 a0001c0001t0013g0027 a0001c0002t0009g0157	6	330	0.0182	-161	c.-11 others(19): Show c.-114-5612_-114-5452del	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar

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