Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC39A8_chr4_102256666_102350482	102320403	TATGAGAA others(73): Show TATGAGAATATATATATGAGAATATATATATATGAGAATATATATATGAG AGTATATATACATATGAGAATATATATATGA	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0140	1	266	0.0038	-80	c.220 others(97): Show c.220-4653_220-4574delTCATATATATATTCTCATATGTATATAT ACTCTCATATATATATTCTCATATATATATATTCTCATATATATATTCTC AT	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	2/8			chr4	TogoVar
SLC39A8_chr4_102256666_102350482	102320433	TATGAGAA others(73): Show TATGAGAATATATATATGAGAGTATATATACATATGAGAATATATATATG AGAGTATATATATATGAGAATATATATATGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG01361.hp1 others(6): Show HG00639.hp2 HG01243.hp1 HG01361.hp1 HG01516.hp1 HG02148.hp2 HG02965.hp2 HG03195.hp2 HG03225.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0003g0071 others(5): Show a0001c0001t0001g0092 a0001c0001t0001g0103 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0004g0073 a0001c0001t0007g0074 a0001c0001t0007g0099 a0001c0001t0008g0006	9	266	0.0338	-80	c.220 others(97): Show c.220-4683_220-4604delTCATATATATATTCTCATATATATATAC TCTCATATATATATTCTCATATGTATATATACTCTCATATATATATTCTC AT	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	2/8			chr4	TogoVar
SLC39A8_chr4_102256666_102350482	102320439	AATATATA others(73): Show AATATATATATGAGAGTATATATACATATGAGAATATATATATGAGAGTA TATATATATGAGAATATATATATGAGAGTAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0240 a0001c0005t0001g0240	1	266	0.0038	-80	c.220 others(97): Show c.220-4689_220-4610delATACTCTCATATATATATTCTCATATAT ATATACTCTCATATATATATTCTCATATGTATATATACTCTCATATATAT AT	SLC39A8	ENSG00000138821.14	transcript	ENST00000356736.5	protein_coding	2/8			chr4	TogoVar
SLC49A3_chr4_676829_694151	681595	CCGCCGCC others(73): Show CCGCCGCCCCGCCCCCTCCAGCGCCGCCCCGCCCCCTCCAGCGCCGCCCC GCCCCCTCCAGCGCCGCCCCGCCCCCTCCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG03239.hp1 HG03942.hp1 others(2): Show HG02818.hp1 HG03239.hp1 HG03942.hp1 NA18948.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0004g0032 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0004g0032 a0001c0002t0001g0002	5	412	0.0121	-80	c.28 others(89): Show c.283_*362delCTGGAGGGGGCGGGGCGGCGCTGGAGGGGGCGGGGC GGCGCTGGAGGGGGCGGGGCGGCGCTGGAGGGGGCGGGGCGGCG	SLC49A3	ENSG00000169026.13	transcript	ENST00000322224.9	protein_coding		233		chr4	TogoVar
SLC6A18_chr5_1220381_1251189	1247346	GAGCTGCC others(73): Show GAGCTGCCCACCTAAGCGTGTCCTGAGCCCACGGCAGGGGAAGCTGCCCA CCTAAGAGTGTCCCGAGCCCACGGCAGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0034 a0005c0006t0003g0262 a0005c0006t0003g0034 a0005c0006t0003g0262	3	456	0.0066	-80	c.12 others(91): Show c.1269_*1348delAGCTGCCCACCTAAGCGTGTCCTGAGCCCACGGC AGGGGAAGCTGCCCACCTAAGAGTGTCCCGAGCCCACGGCAGGGGA	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding		1158		chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1393581	ATGGGGGC others(73): Show ATGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCCTGTGGGGGCCC TGCATGCATCCTGGGGTAGTACACGCTCCTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0034 a0001c0008t0034	a0001c0008t0034g0189 a0001c0008t0034g0189	1	373	0.0027	-80	c.10 others(91): Show c.1074_*1153delCAGGAGCGTGTACTACCCCAGGATGCATGCAGGG CCCCCACAGGAGCGTGTACTACCCCAGGACGCATGCAGGGCCCCCA	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	15/15	1074		chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1393819	CGCTCCTG others(73): Show CGCTCCTGTGGGGGCCCTGCATGCGTTCTGGGGTAGTACACGCTCCTGTG GGGGCCCTGCATGCGTCCAGGGATAGGACAT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 NA18952.hp2 HG00140.hp2 NA18952.hp2	a0001 a0001	a0001c0008 a0001c0013 a0001c0008 a0001c0013	a0001c0008t0034 a0001c0013t0033 a0001c0008t0034 a0001c0013t0033	a0001c0008t0034g0189 a0001c0013t0033g0176 a0001c0008t0034g0189 a0001c0013t0033g0176	2	373	0.0054	-80	c.83 others(89): Show c.836_*915delATGTCCTATCCCTGGACGCATGCAGGGCCCCCACAG GAGCGTGTACTACCCCAGAACGCATGCAGGGCCCCCACAGGAGC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	15/15	836		chr5	TogoVar
SLC7A1_chr13_29504414_29600688	29558128	GGGGGGAG others(73): Show GGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTG AATGTGAGTGAGGGGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0177	1	330	0.0030	-80	c.-11 others(99): Show c.-114-4348_-114-4269delTCACTCACATTCTCTCCCCCTCACTC ACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTC CCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558331	GGGGGAGT others(73): Show GGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAATGAGGGGGAGAG AATGTGAGTGAGGTGGAGAGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA19075.hp1 HG02080.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0261 a0001c0001t0001g0245 a0001c0001t0001g0261	2	330	0.0061	-80	c.-11 others(99): Show c.-114-4551_-114-4472delTCACTCACATTCTCTCCACCTCACTC ACATTCTCTCCCCCTCATTCACATTCACTCCCCCCTCACTCACATTCACT CCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559030	GGGGGAGA others(73): Show GGGGGAGAGAATGTGAGTGAGGGGGAGAGAATGTGAGTGAGGCAGAGTGA ATCTGAATGAGGGGGGAGTGAATGTGAGTGA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02083.hp2 HG02155.hp2 others(1): Show HG00673.hp2 HG02083.hp2 HG02155.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0014 a0001c0001t0036 others(1): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0036 a0001c0005t0026	a0001c0001t0001g0275 a0001c0001t0014g0264 a0001c0001t0036g0134 others(1): Show a0001c0001t0001g0275 a0001c0001t0014g0264 a0001c0001t0036g0134 a0001c0005t0026g0038	4	330	0.0121	-80	c.-11 others(99): Show c.-114-5250_-114-5171delTCACTCACATTCACTCCCCCCTCATT CAGATTCACTCTGCCTCACTCACATTCTCTCCCCCTCACTCACATTCTCT CCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29559230	ACGGGGAG others(73): Show ACGGGGAGTGAATGTGAGTGAGGGGGGAGAGAATGTGAGTGAGGGGGAGT GAATGTGAGTGAGGGGGAGAGAATGTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01106.hp1 HG01169.hp2 others(10): Show HG00597.hp1 HG01106.hp1 HG01169.hp2 HG01346.hp1 HG01928.hp1 HG02040.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02300.hp2 HG03017.hp2 NA19012.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0007 a0001c0002t0019 a0001c0002t0034	a0001c0001t0001g0148 a0001c0002t0002g0111 a0001c0002t0002g0155 others(10): Show a0001c0001t0001g0148 a0001c0002t0002g0111 a0001c0002t0002g0155 a0001c0002t0002g0298 a0001c0002t0004g0137 a0001c0002t0004g0139 a0001c0002t0004g0161 a0001c0002t0004g0182 a0001c0002t0004g0314 a0001c0002t0007g0001 a0001c0002t0007g0033 a0001c0002t0019g0017 a0001c0002t0034g0061	13	330	0.0394	-80	c.-11 others(99): Show c.-114-5450_-114-5371delCACTCACATTCTCTCCCCCTCACTCA CATTCACTCCCCCTCACTCACATTCTCTCCCCCCTCACTCACATTCACTC CCCG	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC9A3_chr5_465456_529449	505345	GGGGTGGG others(73): Show GGGGTGGGGAGTGACCATGGAAGGGGGAGAGTGACTGTTGGGGGGTGGGG AGTGACCGCGGGGTGAAGAGTGACTGTAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(127): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01167.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18948.hp2 NA18954.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp1 NA18986.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19081.hp2 NA19085.hp2 NA19088.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0009	a0001c0001 a0001c0003 a0001c0009 others(16): Show a0001c0001 a0001c0003 a0001c0009 a0001c0020 a0001c0021 a0001c0024 a0001c0025 a0001c0028 a0002c0002 a0002c0004 a0002c0005 a0002c0010 a0002c0011 a0002c0018 a0002c0029 a0003c0014 a0003c0032 a0005c0012 a0009c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(31): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0027 a0001c0003t0008 a0001c0003t0009 a0001c0009t0009 a0001c0020t0004 a0001c0021t0032 a0001c0024t0004 a0001c0025t0001 a0001c0028t0011 a0002c0002t0002 a0002c0002t0003 a0002c0002t0019 a0002c0004t0015 a0002c0004t0025 a0002c0005t0002 a0002c0005t0016 a0002c0010t0002 a0002c0011t0002 a0002c0018t0002 a0002c0029t0002 a0003c0014t0001 a0003c0032t0007 a0005c0012t0013 a0009c0017t0004	a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 others(127): Show a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0004g0010 a0001c0001t0004g0013 a0001c0001t0004g0027 a0001c0001t0004g0055 a0001c0001t0004g0084 a0001c0001t0004g0086 a0001c0001t0004g0089 a0001c0001t0004g0091 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0181 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0205 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0035 a0001c0001t0007g0065 a0001c0001t0010g0062 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0011g0117 a0001c0001t0014g0060 a0001c0001t0014g0061 a0001c0001t0017g0003 a0001c0001t0022g0070 a0001c0001t0023g0074 a0001c0001t0027g0144 a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0008g0112 a0001c0003t0008g0118 a0001c0003t0009g0007 a0001c0009t0009g0081 a0001c0009t0009g0090 a0001c0020t0004g0102 a0001c0021t0032g0204 a0001c0024t0004g0140 a0001c0025t0001g0083 a0001c0028t0011g0085 a0002c0002t0002g0005 a0002c0002t0002g0009 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0023 a0002c0002t0002g0034 a0002c0002t0002g0036 a0002c0002t0002g0049 a0002c0002t0002g0058 a0002c0002t0002g0063 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0082 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0110 a0002c0002t0003g0163 a0002c0002t0003g0183 a0002c0002t0019g0018 a0002c0004t0015g0037 a0002c0004t0025g0143 a0002c0005t0002g0153 a0002c0005t0016g0002 a0002c0010t0002g0093 a0002c0011t0002g0011 a0002c0011t0002g0101 a0002c0018t0002g0048 a0002c0029t0002g0108 a0003c0014t0001g0160 a0003c0014t0001g0162 a0003c0032t0007g0161 a0005c0012t0013g0054 a0009c0017t0004g0123	130	218	0.5963	-80	c.212 others(99): Show c.212-13354_212-13275delTCCTACAGTCACTCTTCACCCCGCGG TCACTCCCCACCCCCCAACAGTCACTCTCCCCCTTCCATGGTCACTCCCC ACCC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SMIM10L1_chr12_11166194_11181016	11168268	GAAAGAAA others(73): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0000 a0001c0002t0012g0000	1	397	0.0025	-80	c.-30 others(91): Show c.-3088_-3009delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2925		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168272	GAAAGAAA others(73): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG03927.hp2 NA18982.hp1 others(3): Show HG01975.hp1 HG03927.hp2 NA18982.hp1 NA18983.hp1 NA19057.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	6	397	0.0151	-80	c.-30 others(91): Show c.-3084_-3005delAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAA	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2921		chr12	TogoVar
SMIM10L1_chr12_11166194_11181016	11168274	AAGAAAGA others(73): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGGAAAGAAAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	1	397	0.0025	-80	c.-30 others(91): Show c.-3082_-3003delAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2919		chr12	TogoVar
SMIM2_chr13_44138150_44166257	44142132	CCTCGGCT others(73): Show CCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCGGCTCG GCTCGGCTCGGCTCGGCTCGGCTCGGCTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02074.hp1 HG02615.hp2 others(6): Show HG01433.hp1 HG02074.hp1 HG02615.hp2 HG03654.hp2 NA18940.hp1 NA18950.hp2 NA18971.hp1 NA18989.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0002g0002 a0001c0001t0002g0005 others(2): Show a0001c0001t0001g0038 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0003g0041	9	380	0.0237	-80	c.17 others(91): Show c.1706_*1785delCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGA GCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMTNL2_chr17_4579529_4613319	4595925	TCTGCTGT others(73): Show TCTGCTGTGTGCAGGGTGTGGCCCAAGCGTGGTATTGATGTCTGCTGTGT GCAGGGTGTGGCCCACGCGTGGTATTGATGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(65): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00642.hp2 HG01109.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG02040.hp1 HG02109.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18906.hp2 NA18941.hp2 NA18943.hp2 NA18960.hp1 NA18963.hp2 NA18966.hp1 NA18971.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18987.hp1 NA18997.hp1 NA19004.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19070.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0019 a0002c0001 a0002c0011	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0003t0001 a0001c0004t0002 a0001c0005t0001 a0001c0007t0001 a0001c0019t0001 a0002c0001t0001 a0002c0011t0001	a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0026 others(54): Show a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0082 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0240 a0001c0002t0001g0257 a0001c0002t0002g0059 a0001c0002t0002g0073 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0147 a0001c0002t0006g0190 a0001c0003t0001g0139 a0001c0003t0001g0142 a0001c0003t0001g0165 a0001c0003t0001g0199 a0001c0004t0002g0117 a0001c0005t0001g0003 a0001c0005t0001g0034 a0001c0005t0001g0156 a0001c0005t0001g0158 a0001c0005t0001g0223 a0001c0007t0001g0055 a0001c0019t0001g0157 a0002c0001t0001g0103 a0002c0001t0001g0259 a0002c0001t0001g0297 a0002c0001t0001g0298 a0002c0001t0001g0303 a0002c0001t0001g0304 a0002c0001t0001g0305 a0002c0001t0001g0306 a0002c0001t0001g0312 a0002c0011t0001g0230 a0002c0011t0001g0231 a0002c0011t0001g0235	68	442	0.1539	-80	c.989 others(95): Show c.989+743_990-711delCGCGTGGTATTGATGCCTGCTGTGTGCAGG GTGTGGCCCAAGCGTGGTATTGATGTCTGCTGTGTGCAGGGTGTGGCCCA	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr17	TogoVar
SNTG1_chr8_49906407_50801692	50734752	GATATCTA others(73): Show GATATCTATATATATGGACATATATATAGATATCTATATATATGGACATA TATATAGATATCTATATATATGGACATATAT	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01192.hp1 HG01243.hp2 others(22): Show HG00621.hp2 HG01192.hp1 HG01243.hp2 HG01884.hp1 HG02109.hp2 HG02647.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG03041.hp2 HG03453.hp1 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA18968.hp2 NA19060.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0003 others(1): Show a0001c0001 a0001c0005 a0002c0003 a0003c0004	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(11): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0031 a0001c0001t0041 a0001c0001t0042 a0001c0005t0019 a0002c0003t0018 a0003c0004t0005	a0001c0001t0004g0072 a0001c0001t0004g0102 a0001c0001t0005g0018 others(22): Show a0001c0001t0004g0072 a0001c0001t0004g0102 a0001c0001t0005g0018 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0035 a0001c0001t0007g0006 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0039 a0001c0001t0008g0061 a0001c0001t0008g0071 a0001c0001t0008g0091 a0001c0001t0015g0001 a0001c0001t0016g0003 a0001c0001t0023g0002 a0001c0001t0024g0058 a0001c0001t0031g0055 a0001c0001t0041g0025 a0001c0001t0042g0048 a0001c0005t0019g0044 a0002c0003t0018g0045 a0003c0004t0005g0040	25	106	0.2359	-80	c.128 others(101): Show c.1285-17221_1285-17142delGATATCTATATATATGGACATATA TATAGATATCTATATATATGGACATATATATATCTATATATATGGACATA TATATA	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNX16_chr8_81794583_81847185	81842504	GAGAGAGA others(73): Show GAGAGAGAGAGAGAGAGAGAGAAAGAGAAAGAAAACGAGCGAGGGAGAGA GCGAGAGCGAGAGAGAGAGAGAGAGAGCGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	306	0.0033	-80	c.-55 others(89): Show c.-559_-480delGACGCTCTCTCTCTCTCTCTCTCGCTCTCGCTCTCT CCCTCGCTCGTTTTCTTTCTCTTTCTCTCTCTCTCTCTCTCTCT	SNX16	ENSG00000104497.15	transcript	ENST00000345957.9	protein_coding		320		chr8	TogoVar
SOGA1_chr20_36772447_36868538	36858313	CACACACA others(73): Show CACACACACACACACACACACACACACACACACACACACTGGCTGCACTT CACTCACATCTAGAATCACCAAGGAGGGAAA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0244 a0001c0001t0019g0244	1	282	0.0036	-80	c.687 others(97): Show c.687+4265_687+4344delTTTCCCTCCTTGGTGATTCTAGATGTGA GTGAAGTGCAGCCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SOGA1_chr20_36772447_36868538	36858393	AACACACA others(73): Show AACACACACACACACACACACACACACACTGGCTGCACTTCACTCACATC TAGAATCACCAAGGAGGGAAAACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02074.hp2 HG02300.hp2 others(12): Show HG02055.hp1 HG02074.hp2 HG02300.hp2 HG02451.hp2 HG02970.hp1 HG03017.hp2 HG03453.hp2 HG04184.hp1 NA18966.hp1 NA18972.hp1 NA18973.hp1 NA18993.hp2 NA19074.hp1 NA19074.hp2 NA20905.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0018 a0001c0001 a0001c0002 a0010c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0032 a0001c0001t0049 a0001c0002t0008 a0010c0018t0045	a0001c0001t0001g0100 a0001c0001t0001g0196 a0001c0001t0001g0201 others(12): Show a0001c0001t0001g0100 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0002g0102 a0001c0001t0002g0198 a0001c0001t0003g0253 a0001c0001t0005g0197 a0001c0001t0032g0194 a0001c0001t0049g0101 a0001c0002t0008g0199 a0001c0002t0008g0200 a0010c0018t0045g0195	15	282	0.0532	-80	c.687 others(97): Show c.687+4185_687+4264delGTGTGTGTGTTTTCCCTCCTTGGTGATT CTAGATGTGAGTGAAGTGCAGCCAGTGTGTGTGTGTGTGTGTGTGTGTGT GT	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SORCS2_chr4_7187538_7747827	7482752	CGCTGTTC others(73): Show CGCTGTTCAGACCTGTATCCCCGCTGCGGACACCCCTGGCTGCTGTTCAG ACCTGTATCCCCACTGCGGACACCCCTGGCT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02258.hp1 HG03540.hp1 others(3): Show HG01361.hp1 HG02258.hp1 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0010 others(2): Show a0001c0001 a0001c0003 a0001c0010 a0003c0013 a0003c0035	a0001c0001t0004 a0001c0003t0015 a0001c0003t0052 others(3): Show a0001c0001t0004 a0001c0003t0015 a0001c0003t0052 a0001c0010t0027 a0003c0013t0021 a0003c0035t0007	a0001c0001t0004g0138 a0001c0003t0015g0034 a0001c0003t0052g0147 others(3): Show a0001c0001t0004g0138 a0001c0003t0015g0034 a0001c0003t0052g0147 a0001c0010t0027g0105 a0003c0013t0021g0100 a0003c0035t0007g0075	6	168	0.0357	-80	c.549 others(99): Show c.549-48754_549-48675delTGCGGACACCCCTGGCTGCTGTTCAG ACCTGTATCCCCACTGCGGACACCCCTGGCTGCTGTTCAGACCTGTATCC CCGC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPANXD_chrX_141692411_141703739	141697952	GGGTTCAG others(73): Show GGGTTCAGGCCGTGAGAAACATCCTGCCTAACCACCTGTCCGCAAGGCGG ACAAAGGCCCAACTGAAGAAACATCCCTATC	G G	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0023 a0011c0015t0023	a0011c0015t0023g0060 a0011c0015t0023g0060	1	334	0.0030	-80	c.72+ others(93): Show c.72+302_73-267delGATAGGGATGTTTCTTCAGTTGGGCCTTTGTC CGCCTTGCGGACAGGTGGTTAGGCAGGATGTTTCTCACGGCCTGAACC	SPANXD	ENSG00000196406.4	transcript	ENST00000370515.3	protein_coding	1/1			chrX	TogoVar
SPIRE2_chr16_89823475_89876319	89852705	TCCGTCTT others(73): Show TCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	356	0.0028	-80	c.646 others(97): Show c.646-1511_646-1432delGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852788	GTCTTCCG others(73): Show GTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTC CTCCCTCTCACCCCCCGCATCCCATGGCCCC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19005.hp2 NA19012.hp2 others(1): Show HG00408.hp2 NA19005.hp2 NA19012.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0191 a0001c0001t0001g0203 others(1): Show a0001c0001t0001g0099 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0001g0266	4	356	0.0112	-80	c.646 others(97): Show c.646-1418_646-1339delCTCTTCCGTCCTCCCTCTCACCCCCCGG ATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGC CC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRGAP2B_chr1_144882288_145100328	144883925	CGGTCAAA others(73): Show CGGTCAAAAAGCCGAGGCGGGGTGGGGGGGGGGGAGGGGGGGAAGCCGCG GCGGCGGGGGGCGAAAAGCCACGGCGGCGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	56	0.0179	-80	c.81 others(91): Show c.8155_*8234delCCCGCCGCCGTGGCTTTTCGCCCCCCGCCGCCGC GGCTTCCCCCCCTCCCCCCCCCCCACCCCGCCTCGGCTTTTTGACC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3362		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239202	ATATATAT others(73): Show ATATATATATATATATATATATATATACTATATATATATATATACTATAT ATATATATATATATACTATATATATATATAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02071.hp2 HG02818.hp1 others(2): Show HG01167.hp2 HG02071.hp2 HG02818.hp1 HG02896.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0041 a0001c0001t0001 a0001c0001t0041	a0001c0001t0001g0107 a0001c0001t0001g0207 a0001c0001t0001g0219 others(2): Show a0001c0001t0001g0107 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0001g0223 a0001c0001t0041g0173	5	274	0.0183	-80	c.68- others(97): Show c.68-45582_68-45503delTATATATACTATATATATATATATACTA TATATATATATATATATACTATATATATATATACTATATATATATATATA TA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239221	TATATATA others(73): Show TATATATACTATATATATATATATACTATATATATATATATATATACTAT ATATATATATACTATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	274	0.0037	-80	c.68- others(97): Show c.68-45579_68-45500delATATACTATATATATATATATACTATAT ATATATATATATATACTATATATATATATACTATATATATATATATATAC AT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRSF7_chr2_38738599_38756361	38755999	GGACGGGG others(73): Show GGACGGGGTGGCTGCCGGGCGGAGACGCTCCTCACTTCCCAGACGGGGCG GCTGCCGGGCGGAGGGGCTCCTCACTTCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01433.hp2 HG01952.hp2 others(3): Show HG01106.hp1 HG01433.hp2 HG01952.hp2 HG01975.hp2 HG02293.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0002g0022 a0001c0001t0002g0066 others(1): Show a0001c0001t0001g0001 a0001c0001t0002g0022 a0001c0001t0002g0066 a0001c0001t0003g0005	6	426	0.0141	-80	c.-48 others(91): Show c.-4823_-4744delTGAGAAGTGAGGAGCCCCTCCGCCCGGCAGCCGC CCCGTCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTC	SRSF7	ENSG00000115875.19	transcript	ENST00000313117.11	protein_coding		4639		chr2	TogoVar
SSH2_chr17_29620938_29935228	29882527	GTGGATCA others(73): Show GTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAAAATGGTGAAA CCTCGTCTCTATTAAAACTGCAAAAATTAGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(81): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02056.hp2 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02895.hp1 HG03017.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03669.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18964.hp1 NA18966.hp1 NA18971.hp1 NA18986.hp2 NA18991.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp2 NA19030.hp1 NA19064.hp2 NA19066.hp2 NA19084.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1	a0001 a0002 a0007 others(5): Show a0001 a0002 a0007 a0008 a0009 a0010 a0011 a0014	a0001c0001 a0001c0006 a0002c0002 others(6): Show a0001c0001 a0001c0006 a0002c0002 a0007c0009 a0008c0015 a0009c0017 a0010c0018 a0011c0011 a0014c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0034 a0001c0006t0017 a0002c0002t0005 a0007c0009t0001 a0008c0015t0001 a0009c0017t0001 a0010c0018t0001 a0011c0011t0001 a0014c0016t0018	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0136 a0001c0001t0002g0019 a0001c0001t0007g0015 a0001c0001t0007g0039 a0001c0001t0015g0006 a0001c0001t0015g0007 a0001c0001t0018g0009 a0001c0001t0020g0005 a0001c0001t0021g0043 a0001c0001t0024g0045 a0001c0001t0025g0070 a0001c0001t0026g0057 a0001c0001t0034g0231 a0001c0006t0017g0075 a0001c0006t0017g0076 a0002c0002t0005g0027 a0007c0009t0001g0042 a0007c0009t0001g0074 a0008c0015t0001g0014 a0009c0017t0001g0060 a0010c0018t0001g0078 a0011c0011t0001g0040 a0014c0016t0018g0004	84	232	0.3621	-80	c.64- others(97): Show c.64-33678_64-33599delGCTAATTTTTGCAGTTTTAATAGAGACG AGGTTTCACCATTTTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATC CA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29895242	ATTATATA others(73): Show ATTATATATACATTTTATATATGAAATATATAAAATATATTTTATATATA CATTTTATATATGAAATATATAAAATATATT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(30): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00642.hp1 HG01081.hp2 HG01169.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp2 HG01993.hp2 HG02056.hp2 HG02132.hp1 HG02148.hp2 HG02257.hp2 HG02523.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02922.hp1 HG02965.hp2 HG03195.hp1 HG03490.hp2 HG03491.hp2 NA18949.hp1 NA18952.hp2 NA18955.hp2 NA18971.hp1 NA18991.hp1 NA19030.hp1 NA19066.hp2 NA19240.hp1	a0001 a0007 a0011 a0001 a0007 a0011	a0001c0001 a0007c0009 a0011c0011 a0001c0001 a0007c0009 a0011c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0024 a0001c0001t0028 a0007c0009t0001 a0011c0011t0001	a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 others(30): Show a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0136 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0007g0015 a0001c0001t0008g0103 a0001c0001t0008g0104 a0001c0001t0008g0109 a0001c0001t0024g0045 a0001c0001t0028g0093 a0007c0009t0001g0042 a0007c0009t0001g0074 a0011c0011t0001g0040	33	232	0.1422	-80	c.63+ others(97): Show c.63+34616_63+34695delAATATATTTTATATATTTCATATATAAA ATGTATATATAAAATATATTTTATATATTTCATATATAAAATGTATATAT AA	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
STAT3_chr17_42308324_42393442	42337901	TGACCTGA others(73): Show TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	302	0.0033	-80	c.551 others(94): Show c.551-124_551-45delCAGGAGTATTCCCTCAGGTCCAGGAGTATTC CCTCAGGTCCAGGAGTATTCCCTCAGGTCAAGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338381	TGACCTGA others(73): Show TGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	302	0.0033	-80	c.550 others(95): Show c.550+270_550+349delCAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTCCAGGAGTATTCCCTCAGGTCCAGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338421	GGACCTGA others(73): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTGGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	302	0.0033	-80	c.550 others(95): Show c.550+230_550+309delAAGGAGTATTCCCTCAGGTCCAGGAGTATT CCCTCAGGTCCAGGAGTATTCCCTCAGGTCCAGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STAT3_chr17_42308324_42393442	42338441	GGACCTGA others(73): Show GGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGG GAATACTCCTTGACCTGAGGGAATACTCCTT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02083.hp2 HG02717.hp1 others(1): Show HG00639.hp1 HG02083.hp2 HG02717.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0037	a0001c0001t0001g0208 a0001c0001t0003g0289 a0001c0001t0005g0033 others(1): Show a0001c0001t0001g0208 a0001c0001t0003g0289 a0001c0001t0005g0033 a0001c0001t0037g0228	4	302	0.0133	-80	c.550 others(95): Show c.550+210_550+289delAAGGAGTATTCCCTCAGGTCAAGGAGTATT CCCTCAGGTCCAGGAGTATTCCCTCAGGTCCAGGAGTATTCCCTCAGGTC	STAT3	ENSG00000168610.17	transcript	ENST00000264657.10	protein_coding	6/23			chr17	TogoVar
STK32C_chr10_132202492_132312950	132267633	GTGTGCAT others(73): Show GTGTGCATGCATGTCCCACATCATGTGTGTGTGTGTCGGTGTGTGTGCAT GCATGTGCATGCAGGTTCAGCTCTATGTCTA	G G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	368	0.0027	-80	c.263 others(99): Show c.263-21758_263-21679delTAGACATAGAGCTGAACCTGCATGCA CATGCATGCACACACACCGACACACACACACATGATGTGGGACATGCATG CACA	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK3_chr8_98449633_98830688	98825715	CCCGCCCC others(73): Show CCCGCCCCGCCCCGCCCCCGGCCGCCCCGCCCCGCCCCCGGCCGCCCCGC CCCGCCCCCGGCCGCCCCGCCCCGCCCCCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01192.hp2 others(12): Show HG01081.hp1 HG01099.hp2 HG01192.hp2 HG01884.hp1 HG02145.hp2 HG02280.hp1 HG02965.hp1 HG03017.hp2 HG03098.hp2 HG04204.hp2 HG06807.hp1 NA18747.hp2 NA19240.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0086 others(12): Show a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0169 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0047 a0001c0001t0002g0048	15	170	0.0882	-80	c.-25 others(89): Show c.-255_-176delCCGGGGGCGGGGCGGGGCGGCCGGGGGCGGGGCGGG GCGGCCGGGGGCGGGGCGGGGCGGCCGGGGGCGGGGCGGGGCGG	STK3	ENSG00000104375.17	transcript	ENST00000419617.7	protein_coding		28		chr8	TogoVar
STX2_chr12_130784600_130844250	130830327	TGATGCAC others(73): Show TGATGCACCCCCCACAGTGGCGTGGCGTAAACAACCAGAGGCTCAACCCT CCTCTCCCATGGTGACCGTCCCATGCTGCGC	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	380	0.0026	-80	c.31- others(95): Show c.31-3140_31-3061delGCGCAGCATGGGACGGTCACCATGGGAGAG GAGGGTTGAGCCTCTGGTTGTTTACGCCACGCCACTGTGGGGGGTGCATC	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	1/10			chr12	TogoVar
STXBP3_chr1_108741674_108814523	108771958	CTGTATCA others(73): Show CTGTATCATATATAAATACATATGATATCTGTATCATATATAAATACATA TGATATCTGTATCATATATAAATACATATGA	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	334	0.0030	-80	c.439 others(95): Show c.439-705_439-626delGTATCATATATAAATACATATGATATCTGT ATCATATATAAATACATATGATATCTGTATCATATATAAATACATATGAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SYK_chr9_90796819_90903549	90861517	TTGGAAGT others(73): Show TTGGAAGTCCAGCCCTGCCTCCCTTTCCTGCAGTGGGAGAGTGGAAGTCC AGCCCTGCCTCCCTTTCCTGCAGTGGGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp1 others(80): Show HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG01109.hp2 HG01496.hp1 HG01516.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp1 HG02155.hp2 HG02280.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03492.hp2 HG03579.hp2 HG03834.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19043.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19080.hp2 NA19082.hp2 NA19090.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0003c0015	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(19): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0024 a0001c0001t0027 a0001c0001t0036 a0001c0001t0050 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0064 a0001c0001t0065 a0001c0001t0072 a0001c0002t0010 a0001c0004t0001 a0001c0004t0012 a0001c0005t0012 a0003c0015t0001	a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0055 others(80): Show a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0149 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0255 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0272 a0001c0001t0001g0276 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0304 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0345 a0001c0001t0001g0371 a0001c0001t0001g0373 a0001c0001t0005g0003 a0001c0001t0005g0040 a0001c0001t0005g0050 a0001c0001t0005g0084 a0001c0001t0005g0116 a0001c0001t0005g0152 a0001c0001t0005g0254 a0001c0001t0005g0279 a0001c0001t0005g0303 a0001c0001t0005g0338 a0001c0001t0005g0347 a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0006g0325 a0001c0001t0007g0275 a0001c0001t0012g0310 a0001c0001t0012g0354 a0001c0001t0012g0374 a0001c0001t0014g0269 a0001c0001t0014g0299 a0001c0001t0015g0249 a0001c0001t0015g0326 a0001c0001t0015g0344 a0001c0001t0024g0188 a0001c0001t0024g0207 a0001c0001t0027g0360 a0001c0001t0027g0365 a0001c0001t0036g0339 a0001c0001t0050g0370 a0001c0001t0053g0264 a0001c0001t0054g0225 a0001c0001t0056g0150 a0001c0001t0064g0154 a0001c0001t0065g0282 a0001c0001t0072g0143 a0001c0002t0010g0153 a0001c0004t0001g0333 a0001c0004t0012g0171 a0001c0005t0012g0051 a0003c0015t0001g0142	83	376	0.2207	-80	c.579 others(95): Show c.579-650_579-571delAGTGGAAGTCCAGCCCTGCCTCCCTTTCCT GCAGTGGGAGAGTGGAAGTCCAGCCCTGCCTCCCTTTCCTGCAGTGGGAG	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYNDIG1_chr20_24464629_24671616	24562030	TCTTATAG others(73): Show TCTTATAGTTGCATCTCATTTATTCCAGATTCTTCCAGATCTGTGTGTGG ATCACTCACACAAAGGAATCAGTTTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02647.hp2 others(3): Show HG01884.hp2 HG02055.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0247 a0001c0002t0001g0026 a0001c0002t0001g0027 others(3): Show a0001c0001t0001g0247 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0156	6	270	0.0222	-80	c.480 others(99): Show c.480+18554_480+18633delATTCCAGATTCTTCCAGATCTGTGTG TGGATCACTCACACAAAGGAATCAGTTTCACCTCCTTATAGTTGCATCTC ATTT	SYNDIG1	ENSG00000101463.6	transcript	ENST00000376862.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
SYNPR_chr3_63273308_63621924	63313974	CATATATA others(73): Show CATATATATATATATCCATATATATATATATCCATATATATATATCCATA TATATATATATCCATATATATATATATCCAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03139.hp1 HG02886.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0092 a0001c0001t0002g0004 a0001c0001t0002g0092	2	246	0.0081	-80	c.84+ others(97): Show c.84+35245_84+35324delATCCATATATATATATATCCATATATAT ATATCCATATATATATATATCCATATATATATATATCCATATATATATAT AT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63595753	ATATATAT others(73): Show ATATATATATATATATAATTTTATATATATATAGTTATATATATATAGTT ATATATATATATAGTTTTATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp1 HG00558.hp1 others(29): Show HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG01106.hp2 HG01257.hp2 HG01433.hp2 HG02040.hp1 HG02056.hp1 HG02129.hp1 HG02165.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18983.hp2 NA19007.hp1 NA19068.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0002c0002t0003	a0001c0001t0001g0057 a0001c0001t0001g0076 a0001c0001t0001g0187 others(29): Show a0001c0001t0001g0057 a0001c0001t0001g0076 a0001c0001t0001g0187 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0073 a0001c0001t0002g0078 a0001c0001t0002g0115 a0001c0001t0002g0126 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0192 a0001c0001t0002g0211 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0100 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0194 a0001c0001t0006g0235 a0001c0001t0006g0236 a0001c0001t0009g0238 a0002c0002t0003g0136	32	246	0.1301	-80	c.409 others(99): Show c.409-13361_409-13282delTATATAATTTTATATATATATAGTTA TATATATATAGTTATATATATATATAGTTTTATATATATATAGTTATATA TATA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAB3_chrX_30822442_30894254	30868522	TATATATA others(73): Show TATATATATATATAGCTTATATATATATATATATATATATATAGCTTATA TATATATATATATATAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0246 a0001c0001t0007g0246	1	302	0.0033	-80	c.-27 others(98): Show c.-279-1053_-279-974delCTCTCTCTCTCTCTCTATATATATATA TATATATAAGCTATATATATATATATATATATATATAAGCTATATATATA TAT	TAB3	ENSG00000157625.16	transcript	ENST00000288422.4	protein_coding	2/10			chrX	TogoVar
TACC3_chr4_1716521_1750171	1749056	TCCCCACC others(73): Show TCCCCACCACGCCCCCTCCCCACCGTGCCCCCTCCCCACCCAACGTGCCC CCTCCCCATCACGCCCCCTCCCCACCTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0213 a0002c0003t0001g0213	1	344	0.0029	-80	c.40 others(91): Show c.4044_*4123delCCCCACCACGCCCCCTCCCCACCGTGCCCCCTCC CCACCCAACGTGCCCCCTCCCCATCACGCCCCCTCCCCACCTGTCC	TACC3	ENSG00000013810.21	transcript	ENST00000313288.9	protein_coding		3886		chr4	TogoVar
TBC1D14_chr4_6904826_7038114	6977649	CGGCCGCC others(73): Show CGGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTCTGCCAGGCCGCCAT CCCATCTAGGAAGTGAGGAGCGTCTCTGCCA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00408.hp2 others(253): Show HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(8): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0002c0002 a0002c0013 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(39): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0001c0007t0002 a0001c0009t0001 a0001c0010t0002 a0001c0011t0002 a0001c0012t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0010 a0002c0002t0015 a0002c0013t0004 a0003c0004t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(253): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0217 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0063 a0001c0001t0002g0135 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0277 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0003g0191 a0001c0001t0004g0049 a0001c0001t0005g0042 a0001c0001t0005g0104 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0225 a0001c0001t0006g0243 a0001c0001t0007g0147 a0001c0001t0007g0195 a0001c0001t0007g0204 a0001c0001t0007g0211 a0001c0001t0007g0212 a0001c0001t0007g0213 a0001c0001t0008g0059 a0001c0001t0008g0060 a0001c0001t0008g0101 a0001c0001t0008g0102 a0001c0001t0008g0116 a0001c0001t0009g0002 a0001c0001t0009g0003 a0001c0001t0009g0248 a0001c0001t0011g0038 a0001c0001t0011g0039 a0001c0001t0011g0040 a0001c0001t0012g0133 a0001c0001t0012g0134 a0001c0001t0013g0257 a0001c0001t0013g0259 a0001c0001t0014g0158 a0001c0001t0016g0206 a0001c0001t0017g0196 a0001c0001t0018g0046 a0001c0001t0019g0289 a0001c0001t0020g0266 a0001c0001t0021g0231 a0001c0001t0022g0115 a0001c0001t0023g0098 a0001c0001t0024g0124 a0001c0001t0025g0094 a0001c0001t0026g0118 a0001c0001t0027g0214 a0001c0001t0028g0162 a0001c0001t0030g0159 a0001c0001t0031g0083 a0001c0003t0001g0132 a0001c0003t0002g0033 a0001c0006t0001g0044 a0001c0007t0002g0001 a0001c0009t0001g0015 a0001c0010t0002g0035 a0001c0011t0002g0207 a0001c0012t0001g0276 a0002c0002t0002g0019 a0002c0002t0004g0011 a0002c0002t0004g0012 a0002c0002t0004g0014 a0002c0002t0004g0016 a0002c0002t0004g0017 a0002c0002t0004g0018 a0002c0002t0004g0023 a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0004g0029 a0002c0002t0004g0300 a0002c0002t0010g0020 a0002c0002t0010g0021 a0002c0002t0010g0022 a0002c0002t0015g0247 a0002c0013t0004g0013 a0003c0004t0002g0164 a0003c0004t0002g0165	256	304	0.8421	-80	c.843 others(99): Show c.843+10345_843+10424delAGGCCGCCATCCCATCTAGGAAGTGA GGAGCGTCTCTGCCAGGCCGCCATCCCATCTAGGAAGTGAGGAGCGTCTC TGCC	TBC1D14	ENSG00000132405.19	transcript	ENST00000409757.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
TBCD_chr17_82747065_82950914	82856859	CGCTGGAC others(73): Show CGCTGGACCGCGTGCGGACCCTCGCTGCGCATCCAGGGCGGGATCGCTGG ACCGCGTGCGGACCCTCGGTGCGCATCCAGG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03225.hp2 NA21309.hp1 others(1): Show HG03130.hp2 HG03225.hp2 NA21309.hp1 NA21309.hp2	a0002 a0019 a0020 a0002 a0019 a0020	a0002c0012 a0019c0042 a0020c0019 a0002c0012 a0019c0042 a0020c0019	a0002c0012t0008 a0019c0042t0044 a0020c0019t0002 a0002c0012t0008 a0019c0042t0044 a0020c0019t0002	a0002c0012t0008g0170 a0002c0012t0008g0171 a0019c0042t0044g0137 others(1): Show a0002c0012t0008g0170 a0002c0012t0008g0171 a0019c0042t0044g0137 a0020c0019t0002g0169	4	318	0.0126	-80	c.131 others(101): Show c.1319-13362_1319-13283delTGGACCGCGTGCGGACCCTCGCTG CGCATCCAGGGCGGGATCGCTGGACCGCGTGCGGACCCTCGGTGCGCATC CAGGGC	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	13/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCERG1L_chr10_131087391_131316721	131106996	AAGGTGGC others(73): Show AAGGTGGCAACTCTGGGAGGGTCTCCAGACAGAATGGATCCCTTTAGCTT CGACTGAGTGCCATTGCTGGGACTCAGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG02258.hp2 HG02559.hp2 others(9): Show HG01258.hp2 HG02258.hp2 HG02559.hp2 HG02615.hp1 HG02922.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03471.hp2 NA18906.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0002t0001 a0002c0004t0002	a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0002g0279 others(9): Show a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0002g0279 a0001c0001t0002g0322 a0001c0001t0004g0038 a0001c0001t0004g0081 a0001c0001t0007g0198 a0001c0001t0007g0224 a0001c0001t0007g0285 a0001c0001t0007g0318 a0001c0002t0001g0181 a0002c0004t0002g0217	12	324	0.0370	-80	c.139 others(99): Show c.1396-2722_1396-2643delCGCCCTGAGTCCCAGCAATGGCACTC AGTCGAAGCTAAAGGGATCCATTCTGTCTGGAGACCCTCCCAGAGTTGCC ACCT	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	9/11			chr10	TogoVar
TCF25_chr16_89868592_89916379	89884922	CCCTCTCC others(73): Show CCCTCTCCCTCTGCCTGACGCCCTCTCCCTCTGCCTGACGCCCCTCTCCC TCTGTCTGACGCCCTCTCCGTCTGCCTGACG	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0067 a0001c0004t0002g0067	1	300	0.0033	-80	c.429 others(95): Show c.429+269_429+348delTCTCCCTCTGCCTGACGCCCTCTCCCTCTG CCTGACGCCCCTCTCCCTCTGTCTGACGCCCTCTCCGTCTGCCTGACGCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89898321	CTGACTGG others(73): Show CTGACTGGGGCGCTGAGCAGTGTGTGGGGTGGAGCGGGTGTTGACTGGGG CGCTGAGCAGTGTGTGGGGTGGAGCGGGTGT	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0274 a0002c0003t0001g0274	1	300	0.0033	-80	c.102 others(97): Show c.1023-203_1023-124delGCGGGTGTTGACTGGGGCGCTGAGCAGT GTGTGGGGTGGAGCGGGTGTTGACTGGGGCGCTGAGCAGTGTGTGGGGTG GA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr16	TogoVar

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