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
SNTG2_chr2_945849_1372613	1221885	C C	CTCTGCCC others(39): Show CTCTGCCCCTCCCTCTGTCTCTCTGTGTCCCTCTCAGTCTCTGGTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0003 a0005c0006t0002g0003	1	179	0.0056	46	c.719 others(65): Show c.719+12656_719+12657insCTGCCCCTCCCTCTGTCTCTCTGTGT CCCTCTCAGTCTCTGGTTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222031	A A	ATCTCTGT others(39): Show ATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02922.hp1 HG01361.hp2 HG02922.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0031 a0001c0001 a0008c0031	a0001c0001t0001 a0008c0031t0001 a0001c0001t0001 a0008c0031t0001	a0001c0001t0001g0012 a0008c0031t0001g0117 a0001c0001t0001g0012 a0008c0031t0001g0117	2	65	0.0308	46	c.719 others(65): Show c.719+12812_719+12813insGTTTCTCTCTGTCTCTGTCTCTGTCT CTCTCTGTCTCTCTGTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222120	T T	TGCCTATC others(39): Show TGCCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTGTCTCTGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0097 a0003c0026t0001g0097	1	188	0.0053	46	c.719 others(65): Show c.719+12890_719+12891insGCCTATCTCTGTCTCTGTCTCTCTCT GTCTCTGTCTCTGTCTCTGG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNX10_chr7_26286862_26379383	26291935	C C	CGGGGAGC others(39): Show CGGGGAGCGCGGGGAGCGCGGGGAGCGCGGGGAGCGCGGGGAGCGCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0016 a0001c0001t0024g0016	1	386	0.0026	46	c.-15 others(55): Show c.-153_-152insAGCGCGGGGAGCGCGGGGAGCGCGGGGGAGCGCGGG GAGCGCGGGG	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/7	54485	INFO_REALIGN_3_PRIME	chr7	TogoVar
SNX10_chr7_26286862_26379383	26325306	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01433.hp1 HG02293.hp2 HG00558.hp1 HG01433.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0308 a0001c0001t0001g0336 a0001c0001t0002g0289 a0001c0001t0001g0308 a0001c0001t0001g0336 a0001c0001t0002g0289	3	9	0.3333	46	c.-23 others(65): Show c.-23-21092_-23-21091insATATATATATATATATATATATATAT ATATATATATATATATATAT	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNX29_chr16_11971734_12579287	12260704	G G	GGCTGGAG others(39): Show GGCTGGAGTGAGTGAGTGTTGAGCTCAGGTCAGTTCACACGCCCCCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp1 others(76): Show HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp2 NA18942.hp2 NA18979.hp1 NA18983.hp2 NA18986.hp2 NA19043.hp2 NA19060.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0014 a0001c0018 a0001c0023 a0001c0025 a0002c0005 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017 a0001c0001t0026 a0001c0001t0028 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0038 a0001c0001t0039 a0001c0001t0044 a0001c0001t0046 a0001c0001t0053 a0001c0001t0059 a0001c0001t0061 a0001c0001t0101 a0001c0001t0108 a0001c0002t0003 a0001c0002t0005 a0001c0002t0018 a0001c0002t0064 a0001c0002t0068 a0001c0002t0071 a0001c0002t0074 a0001c0002t0079 a0001c0002t0084 a0001c0002t0085 a0001c0002t0086 a0001c0002t0087 a0001c0002t0091 a0001c0002t0104 a0001c0002t0105 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0016 a0001c0003t0025 a0001c0003t0026 a0001c0003t0041 a0001c0003t0051 a0001c0003t0052 a0001c0003t0055 a0001c0003t0060 a0001c0003t0100 a0001c0004t0003 a0001c0004t0005 a0001c0004t0020 a0001c0004t0069 a0001c0004t0077 a0001c0004t0078 a0001c0004t0081 a0001c0004t0090 a0001c0004t0093 a0001c0004t0097 a0001c0004t0103 a0001c0006t0011 a0001c0006t0066 a0001c0007t0002 a0001c0007t0062 a0001c0014t0015 a0001c0018t0008 a0001c0023t0009 a0001c0025t0094 a0002c0005t0043 a0004c0011t0010	a0001c0001t0001g0113 a0001c0001t0001g0163 a0001c0001t0002g0065 others(76): Show a0001c0001t0001g0113 a0001c0001t0001g0163 a0001c0001t0002g0065 a0001c0001t0004g0079 a0001c0001t0007g0016 a0001c0001t0007g0150 a0001c0001t0009g0137 a0001c0001t0013g0056 a0001c0001t0017g0103 a0001c0001t0026g0062 a0001c0001t0028g0123 a0001c0001t0031g0143 a0001c0001t0033g0063 a0001c0001t0034g0030 a0001c0001t0038g0124 a0001c0001t0039g0047 a0001c0001t0044g0045 a0001c0001t0046g0052 a0001c0001t0053g0121 a0001c0001t0059g0173 a0001c0001t0061g0039 a0001c0001t0101g0001 a0001c0001t0108g0162 a0001c0002t0003g0051 a0001c0002t0003g0136 a0001c0002t0005g0085 a0001c0002t0018g0034 a0001c0002t0018g0037 a0001c0002t0064g0107 a0001c0002t0068g0044 a0001c0002t0071g0097 a0001c0002t0074g0101 a0001c0002t0079g0021 a0001c0002t0084g0066 a0001c0002t0085g0147 a0001c0002t0086g0018 a0001c0002t0087g0073 a0001c0002t0091g0087 a0001c0002t0104g0122 a0001c0002t0105g0069 a0001c0003t0001g0104 a0001c0003t0001g0156 a0001c0003t0002g0058 a0001c0003t0002g0078 a0001c0003t0002g0098 a0001c0003t0004g0093 a0001c0003t0004g0096 a0001c0003t0004g0176 a0001c0003t0016g0005 a0001c0003t0025g0010 a0001c0003t0026g0012 a0001c0003t0041g0075 a0001c0003t0051g0131 a0001c0003t0052g0117 a0001c0003t0055g0105 a0001c0003t0060g0076 a0001c0003t0100g0154 a0001c0004t0003g0138 a0001c0004t0005g0115 a0001c0004t0020g0038 a0001c0004t0020g0055 a0001c0004t0069g0111 a0001c0004t0077g0070 a0001c0004t0078g0054 a0001c0004t0081g0068 a0001c0004t0090g0102 a0001c0004t0093g0151 a0001c0004t0097g0125 a0001c0004t0103g0042 a0001c0006t0011g0041 a0001c0006t0066g0004 a0001c0007t0002g0003 a0001c0007t0062g0114 a0001c0014t0015g0165 a0001c0018t0008g0057 a0001c0023t0009g0110 a0001c0025t0094g0077 a0002c0005t0043g0089 a0004c0011t0010g0116	79	174	0.4540	46	c.167 others(67): Show c.1679-17215_1679-17170dupAGTGTTGAGCTCAGGTCAGTTCAC ACGCCCCCAGCTGGAGTGAGTG	SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNX8_chr7_2246770_2319441	2268838	C C	CGCCCGGG others(39): Show CGCCCGGGAGGGAGGCGGGGGGGGGGGGGGGGTCGGCCAGCCGCCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0152 a0001c0001t0035g0152	1	368	0.0027	46	c.621 others(61): Show c.621+720_621+721insAGGGCGGCTGGCCGACCCCCCCCCCCCCCC CGCCTCCCTCCCGGGC	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	5/10			chr7	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAAAA others(39): Show AAAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0259 a0001c0003t0003g0259	1	191	0.0052	46	c.949 others(63): Show c.949+5616_949+5617insAAAAAAAATATATATATATATATATATA TATATATATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157915640	A A	AAAAAATA others(39): Show AAAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	191	0.0052	46	c.949 others(63): Show c.949+5616_949+5617insAAAATATATATATATATATATATATATA TATATATATATATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS4_chr14_55022236_55054489	55041783	C C	CTTTTTTT others(39): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	47	0.0213	46	c.-90 others(63): Show c.-90-1143_-90-1142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	SOCS4	ENSG00000180008.9	transcript	ENST00000555846.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
SOCS7_chr17_38346844_38410593	38387107	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATGTATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0019 a0001c0002t0011g0019	1	262	0.0038	46	c.168 others(65): Show c.1682-8181_1682-8180insATATATATATGTATGTGTGTGTGTGT ATATATATATATATATATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SORCS2_chr4_7187538_7747827	7373478	A A	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0047 a0002c0004t0047	a0002c0004t0047g0134 a0002c0004t0047g0134	1	31	0.0323	46	c.481 others(65): Show c.481-22809_481-22808insATATATATATATATATATATATATAT ATATATATTTTTTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724857	T T	TGATGATG others(39): Show TGATGATGGTGGTAGTGGTGATGGTGGTGATAGTATTGGTGGGAATG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00642.hp2 others(25): Show HG00099.hp2 HG00438.hp1 HG00642.hp2 HG00733.hp1 HG01346.hp1 HG01346.hp2 HG02015.hp1 HG02056.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp2 HG03688.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 NA18906.hp1 NA18962.hp2 NA19000.hp1 NA19030.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0009 a0013	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0001c0014 a0001c0016 a0001c0026 a0001c0034 a0001c0041 a0001c0053 a0002c0004 a0006c0008 a0007c0027 a0009c0024 a0013c0055	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(24): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0058 a0001c0002t0002 a0001c0003t0002 a0001c0003t0005 a0001c0003t0010 a0001c0003t0050 a0001c0005t0001 a0001c0005t0005 a0001c0009t0001 a0001c0009t0028 a0001c0010t0059 a0001c0014t0016 a0001c0016t0006 a0001c0026t0004 a0001c0034t0005 a0001c0041t0006 a0001c0053t0001 a0002c0004t0002 a0006c0008t0001 a0006c0008t0006 a0007c0027t0002 a0009c0024t0002 a0013c0055t0006	a0001c0001t0003g0003 a0001c0001t0005g0085 a0001c0001t0007g0111 others(25): Show a0001c0001t0003g0003 a0001c0001t0005g0085 a0001c0001t0007g0111 a0001c0001t0010g0129 a0001c0001t0058g0161 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0003t0002g0073 a0001c0003t0005g0086 a0001c0003t0010g0001 a0001c0003t0050g0005 a0001c0005t0001g0156 a0001c0005t0005g0102 a0001c0009t0001g0151 a0001c0009t0028g0038 a0001c0010t0059g0163 a0001c0014t0016g0139 a0001c0016t0006g0039 a0001c0026t0004g0049 a0001c0034t0005g0093 a0001c0041t0006g0031 a0001c0053t0001g0044 a0002c0004t0002g0013 a0006c0008t0001g0029 a0006c0008t0006g0155 a0007c0027t0002g0116 a0009c0024t0002g0108 a0013c0055t0006g0150	28	152	0.1842	46	c.261 others(63): Show c.2612-293_2612-292insATGGTGGTAGTGGTGATGGTGGTGATAG TATTGGTGGGAATGGATG	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPAAR_chr9_35904490_35916686	35913714	G G	GTGTGTGT others(39): Show GTGTGTGTTTTTGTATGCTGTAGTGTGTGTGTAAGTTGTATGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	46	c.30 others(57): Show c.3023_*3024insTGTGTGTTTTTGTATGCTGTAGTGTGTGTGTAAG TTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2029		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35913743	T T	TGTGTGTA others(39): Show TGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	46	c.30 others(57): Show c.3052_*3053insGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTT TTGTATGCTGTG	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2058		chr9	TogoVar
SPAAR_chr9_35904490_35916686	35914023	T T	TGTTTTTG others(39): Show TGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	418	0.0024	46	c.33 others(57): Show c.3332_*3333insGTTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTA TGTGTGTAGTGA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2338		chr9	TogoVar
SPAG16_chr2_213279464_214415501	213869297	A A	ATATATAT others(39): Show ATATATATATATACGTATATATATATATATGTGTGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0019 a0003c0003t0003g0019	1	48	0.0208	46	c.121 others(65): Show c.1214+6679_1214+6680insTACGTATATATATATATATGTGTGTG TATATATATGTATATATATA	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG4_chr20_35610829_35626094	35615422	A A	AAAAGGAA others(39): Show AAAAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0008 a0001c0001t0001g0032	2	317	0.0063	46	c.-58 others(55): Show c.-582_-581insAAAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAA AGAAAGAAAG	SPAG4	ENSG00000061656.11	transcript	ENST00000374273.8	protein_coding		406		chr20	TogoVar
SPAG6_chr10_22340496_22422610	22346490	C C	CTTCTTCT others(39): Show CTTCTTCTTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTTTCTTCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	127	0.0079	46	c.121 others(61): Show c.121+691_121+736dupCTTCCTCTTCTTCTTCTTCTTTTCTTCTTT CTTCTTTCTTCTTCTT	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPAG6_chr10_22340496_22422610	22413688	G G	GATATATA others(39): Show GATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	78	0.0128	46	c.146 others(65): Show c.1460+2532_1460+2533insATATATATATATATATATATATATAT ATATATATATATATATATAT	SPAG6	ENSG00000077327.16	transcript	ENST00000376624.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPATA31C2_chr9_88124305_88143475	88134448	A A	ACAGAGAC others(39): Show ACAGAGACCTCCCATCTCATGACCAGAGACCTCCCCCGTCTCATGAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02056.hp1 HG02074.hp1 others(19): Show HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02165.hp1 HG02486.hp1 HG02622.hp2 NA18945.hp1 NA18946.hp2 NA18973.hp1 NA18991.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19057.hp1 NA19063.hp2 NA19081.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp1	a0003 a0008 a0019 others(1): Show a0003 a0008 a0019 a0026	a0003c0004 a0003c0007 a0008c0011 others(2): Show a0003c0004 a0003c0007 a0008c0011 a0019c0029 a0026c0056	a0003c0004t0002 a0003c0007t0002 a0008c0011t0002 others(2): Show a0003c0004t0002 a0003c0007t0002 a0008c0011t0002 a0019c0029t0002 a0026c0056t0002	a0003c0004t0002g0021 a0003c0004t0002g0029 a0003c0004t0002g0041 others(6): Show a0003c0004t0002g0021 a0003c0004t0002g0029 a0003c0004t0002g0041 a0003c0007t0002g0026 a0003c0007t0002g0061 a0008c0011t0002g0022 a0008c0011t0002g0044 a0019c0029t0002g0046 a0026c0056t0002g0109	22	375	0.0587	46	c.190 others(61): Show c.190-780_190-779insGTCATGAGACGGGGGAGGTCTCTGGTCATG AGATGGGAGGTCTCTG	SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/3			chr9	TogoVar
SPDYE2B_chr7_102645319_102667625	102646940	G G	GAAAGAAA others(39): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG02257.hp2 others(3): Show HG01069.hp2 HG01070.hp2 HG02257.hp2 HG02273.hp2 HG02630.hp1 NA19063.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0005c0006	a0001c0001t0001 a0001c0001t0006 a0001c0005t0003 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0005t0003 a0002c0002t0001 a0005c0006t0007	a0001c0001t0001g0006 a0001c0001t0006g0002 a0001c0005t0003g0023 others(3): Show a0001c0001t0001g0006 a0001c0001t0006g0002 a0001c0005t0003g0023 a0002c0002t0001g0040 a0005c0006t0007g0042 a0005c0006t0007g0043	6	99	0.0606	46	c.-38 others(57): Show c.-3859_-3858insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAA	SPDYE2B	ENSG00000173678.15	transcript	ENST00000507450.6	protein_coding		3378		chr7	TogoVar
SPECC1L_chr22_24265831_24422738	24270318	T T	TATACGTA others(39): Show TATACGTATATATATATACGTATATATATATGTATATACATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	320	0.0031	46	c.-80 others(55): Show c.-807_-806insATACGTATATATATATACGTATATATATATGTATAT ACATATATAC	SPECC1L	ENSG00000100014.20	transcript	ENST00000314328.14	protein_coding		512		chr22	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	107	0.0093	46	c.53- others(61): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGCGCGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIN1_chr9_88383444_88483694	88441414	T T	TGTGTGTG others(39): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	107	0.0093	46	c.53- others(61): Show c.53-7526_53-7525insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGCGCG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPIRE2_chr16_89823475_89876319	89854649	A A	ATGGTGAG others(39): Show ATGGTGAGCGGGGCAGACGCAGAGGGGCAGCCTGGATGCAGAGGTCG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0002 a0014c0015t0002	a0014c0015t0002g0277 a0014c0015t0002g0277	1	327	0.0031	46	c.891 others(59): Show c.891+12_891+57dupAGACGCAGAGGGGCAGCCTGGATGCAGAGGTC GTGGTGAGCGGGGC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89854665	A A	ACGCAGAG others(39): Show ACGCAGAGGGGCAGCCTGGATGCAGAGGTCGTGGTGAGCGGGGCGGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19070.hp1 HG00621.hp1 NA19070.hp1	a0005 a0005	a0005c0007 a0005c0014 a0005c0007 a0005c0014	a0005c0007t0002 a0005c0014t0002 a0005c0007t0002 a0005c0014t0002	a0005c0007t0002g0269 a0005c0014t0002g0279 a0005c0007t0002g0269 a0005c0014t0002g0279	2	352	0.0057	46	c.891 others(59): Show c.891+59_891+60insCCGCAGAGGGGCAGCCTGGATGCAGAGGTCGT GGTGAGCGGGGCGG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0349 a0001c0001t0010g0349	1	30	0.0333	46	c.180 others(63): Show c.1807-513_1807-512insAAAAAAAAAAAAAATATATATATATATA TATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAATA others(39): Show AAAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	30	0.0333	46	c.180 others(63): Show c.1807-513_1807-512insAAAATATATATATATATATATATATATA TATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS3_chr17_4428940_4493204	4456213	A A	AAGTGCTG others(39): Show AAGTGCTGGGATTACAGGCATGAGCCACCGCGCCTGGTCAAGAGCAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0139 a0001c0003t0002g0139	1	360	0.0028	46	c.111 others(65): Show c.1113+3010_1113+3055dupGTGCTGGGATTACAGGCATGAGCCAC CGCGCCTGGTCAAGAGCAGA	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATAGA others(39): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	19	0.0526	46	c.187 others(65): Show c.187-89784_187-89783insCTCTCCCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(39): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0052 a0001c0001t0025g0052	1	19	0.0526	46	c.187 others(65): Show c.187-89784_187-89783insCTCTCCCTCTCTCTCTCTCTCTCTCT CTCTCTATATATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166847647	T T	TTATATAT others(39): Show TTATATATATATATAGATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	42	0.0238	46	c.589 others(65): Show c.589+41482_589+41483insTATATATATATATATATATATATATA TATATCTATATATATATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14139709	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0169 a0001c0002t0001g0169	1	135	0.0074	46	c.825 others(63): Show c.825+4157_825+4158insATATATATATATATATATATATATATAT ATATATATATATATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160432	T T	TTTATATA others(39): Show TTTATATATATATATTTATATATATATATTTATATATATATATTTAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0093 a0001c0004t0001g0093	1	220	0.0045	46	c.825 others(65): Show c.825+24864_825+24865insTTATATATATATATTTATATATATAT ATTTATATATATATATTTAC	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15			chr11	TogoVar
SPPL2B_chr19_2323684_2360095	2347708	C C	CTCCCTCC others(39): Show CTCCCTCCACACACAGACTCACGCGCTCTCATTCGCTTGATTCCATT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0068 a0001c0002t0001g0068	1	407	0.0025	46	c.135 others(65): Show c.1354+2378_1354+2379insTCCCTCCACACACAGACTCACGCGCT CTCATTCGCTTGATTCCATT	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14			chr19	TogoVar
SPRY3_chrX_155607586_155787459	155777636	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATGTAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG01243.hp1 others(44): Show HG00673.hp1 HG01081.hp1 HG01243.hp1 HG01433.hp1 HG01496.hp1 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02109.hp1 HG02132.hp1 HG02155.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp1 HG02647.hp1 HG02717.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03834.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18959.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19011.hp1 NA19030.hp1 NA19056.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19084.hp1 NA19085.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 others(24): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0041 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0132 a0001c0001t0134 a0001c0001t0144 a0001c0001t0146 a0001c0002t0085 a0001c0002t0135 a0001c0002t0136	a0001c0001t0005g0066 a0001c0001t0005g0091 a0001c0001t0005g0139 others(44): Show a0001c0001t0005g0066 a0001c0001t0005g0091 a0001c0001t0005g0139 a0001c0001t0005g0151 a0001c0001t0005g0155 a0001c0001t0005g0186 a0001c0001t0007g0086 a0001c0001t0007g0088 a0001c0001t0007g0098 a0001c0001t0007g0113 a0001c0001t0009g0147 a0001c0001t0009g0180 a0001c0001t0009g0191 a0001c0001t0009g0206 a0001c0001t0011g0126 a0001c0001t0011g0154 a0001c0001t0011g0157 a0001c0001t0011g0213 a0001c0001t0015g0123 a0001c0001t0015g0160 a0001c0001t0015g0161 a0001c0001t0016g0076 a0001c0001t0016g0095 a0001c0001t0028g0053 a0001c0001t0028g0225 a0001c0001t0029g0178 a0001c0001t0029g0188 a0001c0001t0037g0192 a0001c0001t0037g0211 a0001c0001t0041g0050 a0001c0001t0067g0093 a0001c0001t0068g0119 a0001c0001t0069g0104 a0001c0001t0108g0141 a0001c0001t0109g0118 a0001c0001t0110g0023 a0001c0001t0111g0158 a0001c0001t0112g0099 a0001c0001t0113g0170 a0001c0001t0114g0062 a0001c0001t0132g0013 a0001c0001t0134g0064 a0001c0001t0144g0159 a0001c0001t0146g0230 a0001c0002t0085g0019 a0001c0002t0135g0018 a0001c0002t0136g0224	47	48	0.9792	46	c.29 others(57): Show c.2906_*2907insATATATATATATATATATATATATATATATATAT GTAAATATATAT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	3/3	2907	INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTA1_chr1_158605704_158691715	158675365	G G	GGGTAGGG others(39): Show GGGTAGGGATTTTTTTTTTTCTTTTCTAGTTGTTTGAAAAAAAAATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0067 a0067	a0067c0099 a0067c0099	a0067c0099t0046 a0067c0099t0046	a0067c0099t0046g0142 a0067c0099t0046g0142	1	368	0.0027	46	c.111 others(63): Show c.1113-691_1113-690insTATTTTTTTTTCAAACAACTAGAAAAGA AAAAAAAAAATCCCTACC	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	8/51			chr1	TogoVar
SPTBN1_chr2_54451327_54676446	54561707	T T	TTAAATAT others(39): Show TTAAATATAGTTATATATAAATATAAATCGAGTTATATATTTATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02615.hp2 others(9): Show HG01109.hp2 HG02258.hp1 HG02615.hp2 HG02622.hp2 HG03041.hp2 HG03130.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0019 a0001c0005 a0001c0019	a0001c0005t0003 a0001c0005t0012 a0001c0005t0034 others(1): Show a0001c0005t0003 a0001c0005t0012 a0001c0005t0034 a0001c0019t0012	a0001c0005t0003g0004 a0001c0005t0003g0005 a0001c0005t0003g0047 others(9): Show a0001c0005t0003g0004 a0001c0005t0003g0005 a0001c0005t0003g0047 a0001c0005t0003g0183 a0001c0005t0003g0184 a0001c0005t0003g0190 a0001c0005t0003g0191 a0001c0005t0012g0369 a0001c0005t0012g0370 a0001c0005t0034g0003 a0001c0019t0012g0246 a0001c0019t0012g0252	12	368	0.0326	46	c.148 others(65): Show c.148+35160_148+35205dupAATATAAATCGAGTTATATATTTATA TATAAATATAGTTATATATA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SRARP_chr1_15999236_16013807	16012961	T T	TGGGGGGG others(39): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0002 a0003c0010t0002	a0003c0010t0002g0008 a0003c0010t0002g0008	1	398	0.0025	46	c.66 others(57): Show c.6615_*6616insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGG	SRARP	ENSG00000183888.4	transcript	ENST00000329454.2	protein_coding		4155		chr1	TogoVar
SREBF2_chr22_41828105_41912305	41908806	G G	GTCACACA others(39): Show GTCACACACCTCAACCAGCCACAGCCCTGGCCCCTAGCCTCCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00738.hp2 HG01081.hp2 others(30): Show HG00639.hp2 HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01884.hp1 HG01891.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG02809.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18986.hp2 NA19043.hp2 NA21309.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0002c0005 others(2): Show a0001c0001 a0002c0002 a0002c0005 a0002c0018 a0008c0014	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0020 a0002c0005t0005 a0002c0018t0004 a0008c0014t0005	a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0236 others(30): Show a0001c0001t0001g0227 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0006g0021 a0001c0001t0007g0113 a0001c0001t0007g0240 a0001c0001t0007g0241 a0001c0001t0013g0216 a0002c0002t0005g0009 a0002c0002t0006g0017 a0002c0002t0006g0018 a0002c0002t0006g0019 a0002c0002t0006g0020 a0002c0002t0006g0022 a0002c0002t0006g0023 a0002c0002t0007g0329 a0002c0002t0008g0317 a0002c0002t0008g0318 a0002c0002t0008g0319 a0002c0002t0008g0321 a0002c0002t0020g0014 a0002c0005t0005g0015 a0002c0005t0005g0016 a0002c0005t0005g0243 a0002c0005t0005g0244 a0002c0005t0005g0245 a0002c0005t0005g0246 a0002c0005t0005g0247 a0002c0005t0005g0249 a0002c0018t0004g0156 a0008c0014t0005g0026	33	311	0.1061	46	c.31 others(57): Show c.3146_*3147insTCACACACCTCAACCAGCCACAGCCCTGGCCCCT AGCCTCCCCACA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding		1502		chr22	TogoVar
SREBF2_chr22_41828105_41912305	41908833	T T	TGGCCCCT others(39): Show TGGCCCCTAGCCTCCCCACATCACACACCTCAACCAGCCACAGCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0052 a0004c0004t0005g0052	1	334	0.0030	46	c.31 others(57): Show c.3173_*3174insGGCCCCTAGCCTCCCCACATCACACACCTCAACC AGCCACAGCCCG	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding		1529		chr22	TogoVar
SRF_chr6_43166269_43186506	43186302	C C	CAATTTAT others(39): Show CAATTTATTGATGCTTTCAGAATTAATTTTAATTAACCAAATGTGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	46	c.71 others(57): Show c.7112_*7113insAATTTATTGATGCTTTCAGAATTAATTTTAATTA ACCAAATGTGTT	SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding		4797		chr6	TogoVar
SRGAP2B_chr1_144882288_145100328	144883183	G G	GCCGCCGC others(39): Show GCCGCCGCGGGGGGGCAAAAAGCCTCGGCCGCGTGGGGGCAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01099.hp1 HG01978.hp2 others(1): Show HG00280.hp1 HG01099.hp1 HG01978.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0050 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0050 a0001c0001t0012g0051	4	28	0.1429	46	c.89 others(57): Show c.8976_*8977insGTTTTTTGCCCCCACGCGGCCGAGGCTTTTTGCC CCCCCGCGGCGG	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4104		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144883183	G G	GCCGCGGC others(39): Show GCCGCGGCGGGGGGGCAAAAAGCCTCGGCCGCGTGGGGGCAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00673.hp1 HG01109.hp2 others(14): Show HG00280.hp2 HG00673.hp1 HG01109.hp2 HG01258.hp1 HG01346.hp1 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02257.hp2 HG02602.hp1 HG02602.hp2 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03831.hp1 NA20805.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0009 a0001c0001 a0002c0002 a0009c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0015 a0002c0002t0001 a0002c0002t0010 a0002c0002t0011 a0009c0009t0003	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0026 others(14): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0052 a0001c0001t0002g0002 a0001c0001t0002g0035 a0001c0001t0003g0016 a0001c0001t0008g0005 a0001c0001t0015g0010 a0002c0002t0001g0031 a0002c0002t0001g0042 a0002c0002t0010g0023 a0002c0002t0011g0028 a0009c0009t0003g0014	17	41	0.4146	46	c.89 others(57): Show c.8976_*8977insGTTTTTTGCCCCCACGCGGCCGAGGCTTTTTGCC CCCCCGCCGCGG	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4104		chr1	TogoVar
SRMS_chr20_63533489_63552749	63535752	A A	ACCTGGCC others(39): Show ACCTGGCCTCCCGCCCCCCCCTCACCTGGCCTCCCGCCCCCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 NA19030.hp1 HG02145.hp1 NA19030.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0037 a0010c0015t0002g0037	2	344	0.0058	46	c.50 others(57): Show c.5065_*5066insAGAGGAGGGGGCGGGAGGCCAGGTGAGGGGGGGG CGGGAGGCCAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2736		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535800	C C	CCTGGCCT others(39): Show CCTGGCCTCCCGCCCCCCCCTCATCTGGCCTCCCGCCCCCCCCTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0002 a0011c0014t0002	a0011c0014t0002g0031 a0011c0014t0002g0031	1	353	0.0028	46	c.50 others(57): Show c.5017_*5018insATGAGGGGGGGGCGGGAGGCCAGATGAGGGGGGG GCGGGAGGCCAG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2688		chr20	TogoVar
SRP54_chr14_34977992_35034567	34988582	T T	TATATATA others(39): Show TATATATATATATATATATATCATATATATATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG01109.hp2 others(13): Show HG00140.hp1 HG00735.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01934.hp1 HG01981.hp1 HG02004.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp1 HG06807.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 others(12): Show a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0004g0004 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0079	16	353	0.0453	46	c.-34 others(63): Show c.-34+5380_-34+5381insTATATATCATATATATATATATATATAT ATAACATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988595	A A	ATATCATA others(39): Show ATATCATATATATATATATATATATATATAACATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0086 a0001c0001t0004g0086	1	389	0.0026	46	c.-34 others(63): Show c.-34+5380_-34+5381insTATCATATATATATATATATATATATAT AACATATATATATATAAC	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15			chr14	TogoVar
SSC4D_chr7_76384337_76414697	76405319	A A	ATATATAT others(39): Show ATATATATATATATATATATGTATGTATTTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0292 a0001c0005t0001g0292	1	309	0.0032	46	c.-66 others(61): Show c.-66-815_-66-814insGAAAGAAAGAAAGAAAAAAATACATACATA TATATATATATATATA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar

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