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
SDK1_chr7_3296252_4274000	3976692	C C	CGGTCCTC others(44): Show CGGTCCTCCAGAGAATCACTGAGGGTCCCAGGGCTGAGGCTGCCACGCAG AG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0022 a0001c0046t0022	a0001c0046t0022g0091 a0001c0046t0022g0091	1	35	0.0286	51	c.199 others(70): Show c.1994+2167_1994+2168insAGGGTCCCAGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976713	G G	GGGGTCCC others(44): Show GGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACT GA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0033 a0001c0036t0033	a0001c0036t0033g0116 a0001c0036t0033g0116	1	69	0.0145	51	c.199 others(70): Show c.1994+2192_1994+2193insACAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976738	G G	GCAGACGG others(44): Show GCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0009 a0009	a0009c0020 a0009c0020	a0009c0020t0070 a0009c0020t0070	a0009c0020t0070g0009 a0009c0020t0070g0009	1	106	0.0094	51	c.199 others(70): Show c.1994+2197_1994+2198insCGGTCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACACAGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3976843	G G	GAGGGTCC others(44): Show GAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACAC GA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0057 a0001c0071t0057	a0001c0071t0057g0031 a0001c0071t0057g0031	1	116	0.0086	51	c.199 others(70): Show c.1994+2345_1994+2346insACGAAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977057	C C	CGGTCCTC others(44): Show CGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAG AG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0012 a0007c0006t0012	a0007c0006t0012g0115 a0007c0006t0012g0115	1	31	0.0323	51	c.199 others(70): Show c.1994+2533_1994+2583dupGGGGTCCCGGGGCTGAGGCTGCCACG CAGAGGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977280	T T	TCCTCCAG others(44): Show TCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGG GC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03209.hp2 HG01891.hp2 HG03209.hp2	a0001 a0005 a0001 a0005	a0001c0048 a0005c0065 a0001c0048 a0005c0065	a0001c0048t0001 a0005c0065t0037 a0001c0048t0001 a0005c0065t0037	a0001c0048t0001g0029 a0005c0065t0037g0065 a0001c0048t0001g0029 a0005c0065t0037g0065	2	112	0.0179	51	c.199 others(70): Show c.1994+2752_1994+2753insGGGGTCCCGGGGCTGAGGCTGCCACA CAGAGGGCCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977331	T T	TCCTCCAG others(44): Show TCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGG GC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00558.hp1 others(55): Show HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02145.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03688.hp2 HG03710.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0017 a0019 a0020 a0023 a0026 a0028 a0035	a0001c0002 a0001c0004 a0001c0005 others(44): Show a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0031 a0001c0032 a0001c0034 a0001c0036 a0001c0038 a0001c0039 a0001c0062 a0001c0067 a0001c0087 a0001c0088 a0001c0091 a0001c0092 a0002c0009 a0002c0013 a0002c0029 a0002c0030 a0002c0042 a0002c0053 a0002c0054 a0002c0090 a0003c0001 a0003c0047 a0004c0003 a0004c0076 a0005c0055 a0005c0056 a0006c0016 a0006c0077 a0007c0044 a0008c0078 a0010c0079 a0011c0021 a0011c0022 a0012c0015 a0017c0035 a0019c0050 a0020c0063 a0023c0083 a0026c0028 a0028c0018 a0035c0073	a0001c0002t0002 a0001c0004t0001 a0001c0004t0005 others(53): Show a0001c0002t0002 a0001c0004t0001 a0001c0004t0005 a0001c0005t0051 a0001c0007t0003 a0001c0007t0021 a0001c0008t0004 a0001c0008t0007 a0001c0010t0060 a0001c0031t0001 a0001c0032t0058 a0001c0034t0028 a0001c0036t0033 a0001c0038t0013 a0001c0039t0050 a0001c0062t0053 a0001c0067t0068 a0001c0087t0009 a0001c0088t0009 a0001c0091t0010 a0001c0092t0048 a0002c0009t0004 a0002c0009t0056 a0002c0013t0015 a0002c0029t0005 a0002c0030t0034 a0002c0042t0002 a0002c0053t0067 a0002c0054t0002 a0002c0090t0010 a0003c0001t0003 a0003c0001t0059 a0003c0001t0063 a0003c0001t0066 a0003c0047t0038 a0004c0003t0003 a0004c0003t0052 a0004c0076t0003 a0005c0055t0055 a0005c0056t0006 a0006c0016t0001 a0006c0016t0003 a0006c0077t0003 a0007c0044t0001 a0008c0078t0001 a0010c0079t0054 a0011c0021t0073 a0011c0022t0072 a0012c0015t0017 a0017c0035t0005 a0019c0050t0019 a0020c0063t0007 a0023c0083t0044 a0026c0028t0049 a0028c0018t0071 a0035c0073t0001	a0001c0002t0002g0096 a0001c0004t0001g0039 a0001c0004t0005g0102 others(55): Show a0001c0002t0002g0096 a0001c0004t0001g0039 a0001c0004t0005g0102 a0001c0005t0051g0030 a0001c0007t0003g0032 a0001c0007t0021g0110 a0001c0008t0004g0095 a0001c0008t0007g0067 a0001c0010t0060g0017 a0001c0031t0001g0018 a0001c0032t0058g0043 a0001c0034t0028g0098 a0001c0036t0033g0116 a0001c0038t0013g0038 a0001c0039t0050g0022 a0001c0062t0053g0042 a0001c0067t0068g0001 a0001c0087t0009g0054 a0001c0088t0009g0048 a0001c0091t0010g0055 a0001c0092t0048g0057 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0013t0015g0024 a0002c0029t0005g0094 a0002c0030t0034g0083 a0002c0042t0002g0105 a0002c0053t0067g0034 a0002c0054t0002g0101 a0002c0090t0010g0047 a0003c0001t0003g0037 a0003c0001t0059g0026 a0003c0001t0063g0033 a0003c0001t0066g0041 a0003c0047t0038g0082 a0004c0003t0003g0070 a0004c0003t0003g0072 a0004c0003t0052g0069 a0004c0076t0003g0073 a0005c0055t0055g0021 a0005c0056t0006g0097 a0006c0016t0001g0114 a0006c0016t0003g0068 a0006c0077t0003g0099 a0007c0044t0001g0020 a0008c0078t0001g0074 a0010c0079t0054g0071 a0011c0021t0073g0007 a0011c0022t0072g0008 a0012c0015t0017g0059 a0012c0015t0017g0066 a0017c0035t0005g0058 a0019c0050t0019g0092 a0020c0063t0007g0106 a0023c0083t0044g0004 a0026c0028t0049g0035 a0028c0018t0071g0005 a0035c0073t0001g0016	58	94	0.6170	51	c.199 others(70): Show c.1994+2828_1994+2829insGCAGAGGGCCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977374	A A	ACAGAGGG others(44): Show ACAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0033 a0033	a0033c0051 a0033c0051	a0033c0051t0062 a0033c0051t0062	a0033c0051t0062g0019 a0033c0051t0062g0019	1	86	0.0116	51	c.199 others(70): Show c.1994+2833_1994+2834insGGGCCCTCCAGAGAATCACTGAGGGT CCCGGGGCTGAGGCTGCCACGCAGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3977425	A A	ACAGAGGG others(44): Show ACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0028 a0001c0011t0008g0028	1	58	0.0172	51	c.199 others(70): Show c.1994+2895_1994+2896insAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217231	T T	TGGAGCAC others(44): Show TGGAGCACCACACCACCCGGAGCACCAGGCCACCTGGAGCACCACACCAC CC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp1 HG03471.hp1 HG02717.hp1 HG02896.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0040 a0001c0060 a0002c0013 a0001c0040 a0001c0060 a0002c0013	a0001c0040t0001 a0001c0060t0041 a0002c0013t0064 a0001c0040t0001 a0001c0060t0041 a0002c0013t0064	a0001c0040t0001g0040 a0001c0060t0041g0080 a0002c0013t0064g0023 a0001c0040t0001g0040 a0001c0060t0041g0080 a0002c0013t0064g0023	3	95	0.0316	51	c.554 others(70): Show c.5540-2869_5540-2868insCACCACCCGGAGCACCAGGCCACCTG GAGCACCACACCACCCGGAGCACCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217446	A A	ACCACCCG others(44): Show ACCACCCGGAGCACCAGGCCACCTGGAGCACCACACCACCCGGAGCACCA GG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG03516.hp1 HG01891.hp2 HG02647.hp1 HG03516.hp1	a0001 a0005 a0027 a0001 a0005 a0027	a0001c0010 a0005c0065 a0027c0089 a0001c0010 a0005c0065 a0027c0089	a0001c0010t0060 a0005c0065t0037 a0027c0089t0047 a0001c0010t0060 a0005c0065t0037 a0027c0089t0047	a0001c0010t0060g0017 a0005c0065t0037g0065 a0027c0089t0047g0056 a0001c0010t0060g0017 a0005c0065t0037g0065 a0027c0089t0047g0056	3	96	0.0313	51	c.554 others(70): Show c.5540-2648_5540-2647insGGCCACCTGGAGCACCACACCACCCG GAGCACCAGGCCACCCGGAGCACCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217497	A A	ACCACCTG others(44): Show ACCACCTGGAGCACCAGGCCACCCGGAGCACCACACCACCCGGAGCACCA GG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0042 a0002c0042	a0002c0042t0002 a0002c0042t0002	a0002c0042t0002g0105 a0002c0042t0002g0105	1	90	0.0111	51	c.554 others(70): Show c.5540-2607_5540-2606insTGGAGCACCAGGCCACCCGGAGCACC ACACCACCCGGAGCACCAGGCCACC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4217508	C C	CACCAGGC others(44): Show CACCAGGCCACCCGGAGCACCACACCACCCGGAGCACCAGGCCACCCGGA GA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00639.hp1 others(40): Show HG00408.hp2 HG00558.hp2 HG00639.hp1 HG00738.hp2 HG01081.hp2 HG01167.hp1 HG01175.hp2 HG01243.hp1 HG01934.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0005 a0006 a0009 a0011 a0013 a0015 a0018 a0019 a0021 a0022 a0026 a0028 a0029 a0031 a0035	a0001c0004 a0001c0007 a0001c0010 others(39): Show a0001c0004 a0001c0007 a0001c0010 a0001c0011 a0001c0017 a0001c0025 a0001c0026 a0001c0031 a0001c0037 a0001c0048 a0001c0049 a0001c0059 a0001c0061 a0001c0064 a0001c0067 a0001c0072 a0001c0088 a0001c0092 a0001c0093 a0001c0095 a0002c0013 a0002c0043 a0002c0053 a0002c0066 a0003c0001 a0003c0033 a0005c0056 a0006c0016 a0009c0019 a0009c0020 a0011c0021 a0013c0070 a0015c0074 a0018c0024 a0019c0050 a0021c0068 a0022c0094 a0026c0028 a0028c0018 a0029c0084 a0031c0069 a0035c0073	a0001c0004t0001 a0001c0007t0021 a0001c0010t0002 others(39): Show a0001c0004t0001 a0001c0007t0021 a0001c0010t0002 a0001c0011t0008 a0001c0017t0011 a0001c0025t0024 a0001c0026t0002 a0001c0031t0001 a0001c0037t0002 a0001c0048t0001 a0001c0049t0036 a0001c0059t0027 a0001c0061t0031 a0001c0064t0006 a0001c0067t0068 a0001c0072t0065 a0001c0088t0009 a0001c0092t0048 a0001c0093t0006 a0001c0095t0029 a0002c0013t0015 a0002c0043t0035 a0002c0053t0067 a0002c0066t0023 a0003c0001t0063 a0003c0033t0002 a0005c0056t0006 a0006c0016t0001 a0009c0019t0074 a0009c0020t0070 a0011c0021t0073 a0013c0070t0026 a0015c0074t0042 a0018c0024t0061 a0019c0050t0019 a0021c0068t0014 a0022c0094t0025 a0026c0028t0049 a0028c0018t0071 a0029c0084t0045 a0031c0069t0069 a0035c0073t0001	a0001c0004t0001g0039 a0001c0007t0021g0110 a0001c0010t0002g0085 others(40): Show a0001c0004t0001g0039 a0001c0007t0021g0110 a0001c0010t0002g0085 a0001c0011t0008g0028 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0025t0024g0089 a0001c0026t0002g0086 a0001c0031t0001g0018 a0001c0037t0002g0077 a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0059t0027g0090 a0001c0061t0031g0100 a0001c0064t0006g0111 a0001c0067t0068g0001 a0001c0072t0065g0027 a0001c0088t0009g0048 a0001c0092t0048g0057 a0001c0093t0006g0053 a0001c0095t0029g0050 a0002c0013t0015g0024 a0002c0043t0035g0079 a0002c0053t0067g0034 a0002c0066t0023g0088 a0003c0001t0063g0033 a0003c0033t0002g0103 a0005c0056t0006g0097 a0006c0016t0001g0114 a0009c0019t0074g0006 a0009c0020t0070g0009 a0011c0021t0073g0007 a0013c0070t0026g0112 a0015c0074t0042g0081 a0018c0024t0061g0013 a0019c0050t0019g0092 a0021c0068t0014g0014 a0022c0094t0025g0049 a0026c0028t0049g0035 a0028c0018t0071g0005 a0029c0084t0045g0011 a0031c0069t0069g0064 a0035c0073t0001g0016	43	83	0.5181	51	c.554 others(70): Show c.5540-2597_5540-2596insGGCCACCCGGAGCACCACACCACCCG GAGCACCAGGCCACCCGGAGAACCA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	38/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp2 NA19000.hp2 NA18990.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0049 a0001c0001t0002g0051	2	51	0.0392	51	c.11 others(62): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	50	0.0200	51	c.11 others(62): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCT CTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(44): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0195 a0002c0002t0003g0195	1	285	0.0035	51	c.11 others(62): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848549	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0320 a0001c0001t0005g0320	1	270	0.0037	51	c.93 others(60): Show c.935_*936insTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCTTCT TCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		697		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAAGAA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0007 a0003c0005t0002g0007	1	36	0.0278	51	c.92 others(60): Show c.929_*930insTCTTCTTCTTCCTCTTCCTCTTCCTCTTCTTCTTCT TCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02155.hp1 HG03492.hp2 others(1): Show HG01081.hp1 HG02155.hp1 HG03492.hp2 HG03927.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0017 a0001c0001 a0009c0017	a0001c0001t0001 a0009c0017t0002 a0001c0001t0001 a0009c0017t0002	a0001c0001t0001g0270 a0001c0001t0001g0281 a0001c0001t0001g0315 others(1): Show a0001c0001t0001g0270 a0001c0001t0001g0281 a0001c0001t0001g0315 a0009c0017t0002g0040	4	39	0.1026	51	c.92 others(60): Show c.929_*930insTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCT TCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	36	0.0278	51	c.92 others(60): Show c.929_*930insTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCTTCT TCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848555	G G	GAGAAGAA others(44): Show GAGAAGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAAGAA GA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18995.hp1 NA19005.hp1 others(1): Show HG02155.hp2 NA18995.hp1 NA19005.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153	4	39	0.1026	51	c.92 others(60): Show c.929_*930insTCTTCTTCTTCCTCTTCCTCTTCCTCTTCCTCTTCT TCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		691		chr20	TogoVar
SELENOK_chr3_53879417_53896859	53891207	T T	TGTACTTA others(44): Show TGTACTTACAACACATATGAAAACACTATCATAGGTGCTGTTTACACGCT TA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	420	0.0024	51	c.19+ others(64): Show c.19+562_19+563insTAAGCGTGTAAACAGCACCTATGATAGTGTTT TCATATGTGTTGTAAGTAC	SELENOK	ENSG00000113811.12	transcript	ENST00000495461.6	protein_coding	1/4			chr3	TogoVar
SERAC1_chr6_158104519_158173262	158169745	T T	TTATATAT others(44): Show TTATATATAATATATTGTATATTATATATAATATATTGTATATTGTATAT TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03579.hp2 NA19030.hp2 HG03471.hp1 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0299 a0001c0002t0003g0296 a0001c0002t0003g0297 a0001c0002t0003g0299	3	237	0.0127	51	c.-16 others(62): Show c.-1608_-1607insTAATATACAATATACAATATATTATATATAATAT ACAATATATTATATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1484		chr6	TogoVar
SERPINB7_chr18_63770418_63810370	63783220	G G	GAAAGAAA others(44): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAG AA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA18906.hp2 HG03130.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0008 a0001c0004t0006g0296 a0001c0004t0006g0008 a0001c0004t0006g0296	2	369	0.0054	51	c.168 others(66): Show c.168+681_168+682insAAGAAAGAAAGAAAGAAAGAGAAAGAAAGA AAGAAAGAAAGAAAGAAGAAA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63786099	G G	GTATATAT others(44): Show GTATATATATGTATATACGTATATATATACGTATATACATATAATATAAG TA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	338	0.0030	51	c.168 others(68): Show c.168+3575_168+3576insCGTATATATATACGTATATACATATAAT ATAAGTATATATATATGTATATA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63786099	G G	GTATATAT others(44): Show GTATATATATGTATATATGTATATATATACGTATATACATATAATATAAG TA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00639.hp1 others(29): Show HG00099.hp1 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp2 HG02004.hp1 HG02071.hp2 HG02738.hp1 HG03239.hp1 HG03704.hp2 HG04199.hp1 NA18939.hp1 NA18962.hp1 NA18968.hp1 NA18981.hp1 NA18998.hp1 NA19064.hp1 NA19080.hp2 NA19091.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0011 a0001c0001 a0002c0002 a0007c0011	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0002c0002t0003 a0007c0011t0003	a0001c0001t0003g0004 a0001c0001t0003g0020 a0001c0001t0003g0114 others(22): Show a0001c0001t0003g0004 a0001c0001t0003g0020 a0001c0001t0003g0114 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0195 a0001c0001t0003g0237 a0001c0001t0004g0004 a0001c0001t0004g0176 a0001c0001t0008g0095 a0002c0002t0003g0165 a0002c0002t0003g0189 a0007c0011t0003g0173	32	369	0.0867	51	c.168 others(68): Show c.168+3601_168+3602insATATAAGTATATATATATGTATATATGT ATATATATACGTATATACATATA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINC1_chr1_173898800_173922327	173922147	G G	GAAAAAAA others(44): Show GAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	394	0.0025	51	c.-48 others(62): Show c.-4889_-4888insGGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TCTTTTTTTTTTTTTTT	SERPINC1	ENSG00000117601.15	transcript	ENST00000367698.4	protein_coding		4821		chr1	TogoVar
SERPINF1_chr17_1757060_1782565	1758022	A A	ACGGGGTT others(44): Show ACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTG AT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0009	1	442	0.0023	51	c.-41 others(62): Show c.-4100_-4099insCGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGAT	SERPINF1	ENSG00000132386.11	transcript	ENST00000254722.9	protein_coding		4037		chr17	TogoVar
SETDB2_chr13_49439274_49500003	49441226	T T	TATATATA others(44): Show TATATATATTATATATATATATATATATAATATATATATATATATATATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0308 a0002c0003t0002g0308	1	350	0.0029	51	c.-39 others(62): Show c.-3973_-3972insATATATATTATATATATATATATATATAATATAT ATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3047		chr13	TogoVar
SETDB2_chr13_49439274_49500003	49441226	T T	TATATATA others(44): Show TATATATATTATATATATATATATATATATAATATATATATATATATATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0250 a0001c0002t0003g0250	1	350	0.0029	51	c.-39 others(62): Show c.-3973_-3972insATATATATTATATATATATATATATATATAATAT ATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3047		chr13	TogoVar
SETDB2_chr13_49439274_49500003	49441226	T T	TATATATA others(44): Show TATATATATTATATATATATATATATATATATAATATATATATATATATA TA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 NA20905.hp2 HG01192.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0229 a0001c0002t0003g0230	2	351	0.0057	51	c.-39 others(62): Show c.-3973_-3972insATATATATTATATATATATATATATATATATAAT ATATATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3047		chr13	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(44): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	118	0.0085	51	c.124 others(68): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SH2D1A_chrX_124341563_124378160	124350395	A A	ATATATAA others(44): Show ATATATAATATTATATAATATATAATATATAAATATATATTATATATAAT AT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	312	0.0032	51	c.137 others(68): Show c.137+3620_137+3621insTAATATTATATAATATATAATATATAAA TATATATTATATATAATATTATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH3BP2_chr4_2788085_2846096	2802659	G G	GTGTGTGT others(44): Show GTGTGTGTGTGTATATATGTATGTATGTGGTGTGTGTATATATATATGTA TA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0189 a0001c0003t0014g0189	1	371	0.0027	51	c.-5+ others(66): Show c.-5+9532_-5+9533insATATATGTATGTATGTGGTGTGTGTATATA TATATGTATATGTGTGTGTGT	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3KBP1_chrX_19528977_19892600	19874068	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	83	0.0120	51	c.4+1 others(66): Show c.4+13238_4+13239insATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	1/17			chrX	TogoVar
SH3PXD2B_chr5_172328499_172459525	172348654	C C	CTTATCTT others(44): Show CTTATCTTATCTATCTATCTATCTATCTATCTTATCTTATCTATCTATCT AT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0050 a0001c0003t0050	a0001c0003t0050g0163 a0001c0003t0050g0163	1	232	0.0043	51	c.101 others(70): Show c.1013-1323_1013-1322insATAGATAGATAGATAAGATAAGATAG ATAGATAGATAGATAGATAAGATAA	SH3PXD2B	ENSG00000174705.13	transcript	ENST00000311601.6	protein_coding	10/12			chr5	TogoVar
SH3RF3_chr2_109124205_109509634	109199495	G G	GAATGGAA others(44): Show GAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATG GA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0006 a0001c0017t0006	a0001c0017t0006g0021 a0001c0017t0006g0021	1	157	0.0064	51	c.573 others(70): Show c.573+69383_573+69384insATGGAATGGAATGGAATGGAATGGAA TGGAATGGAATGGAATGGAATGGAA	SH3RF3	ENSG00000172985.11	transcript	ENST00000309415.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3TC1_chr4_8194290_8246103	8234105	T T	TCACCTGT others(44): Show TCACCTGTTGATCCTTCCATCATCCATCCATTTATCCATTCATCCATCCA TC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG03704.hp1 HG03942.hp1 others(2): Show HG02896.hp1 HG03704.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp1	a0002 a0005 a0002 a0005	a0002c0012 a0005c0016 a0005c0087 a0002c0012 a0005c0016 a0005c0087	a0002c0012t0001 a0005c0016t0001 a0005c0016t0002 others(1): Show a0002c0012t0001 a0005c0016t0001 a0005c0016t0002 a0005c0087t0004	a0002c0012t0001g0018 a0005c0016t0001g0052 a0005c0016t0001g0227 others(2): Show a0002c0012t0001g0018 a0005c0016t0001g0052 a0005c0016t0001g0227 a0005c0016t0002g0081 a0005c0087t0004g0341	5	372	0.0134	51	c.328 others(68): Show c.3282+595_3282+645dupCCTGTTGATCCTTCCATCATCCATCCAT TTATCCATTCATCCATCCATCCA	SH3TC1	ENSG00000125089.18	transcript	ENST00000245105.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHISA9_chr16_12896598_13245416	13015963	T T	TCCTTTCC others(44): Show TCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp2 HG01433.hp1 others(15): Show HG01167.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01993.hp1 HG02055.hp2 HG02486.hp2 HG02698.hp2 HG02738.hp2 HG02922.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0014 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0040 a0001c0001t0047 a0001c0001t0049 a0001c0001t0079 a0001c0001t0084 a0001c0001t0085 a0001c0001t0094 a0001c0002t0013	a0001c0001t0001g0090 a0001c0001t0002g0002 a0001c0001t0003g0180 others(15): Show a0001c0001t0001g0090 a0001c0001t0002g0002 a0001c0001t0003g0180 a0001c0001t0011g0127 a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0057 a0001c0001t0028g0137 a0001c0001t0029g0003 a0001c0001t0037g0156 a0001c0001t0040g0113 a0001c0001t0047g0174 a0001c0001t0049g0074 a0001c0001t0079g0164 a0001c0001t0084g0151 a0001c0001t0085g0167 a0001c0001t0094g0101 a0001c0002t0013g0124	18	185	0.0973	51	c.691 others(70): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHROOM2_chrX_9781429_9954443	9823150	T T	TCCCTTCT others(44): Show TCCCTTCTCCTTCTCCCTTCTCCTTCTCCCTTCTCCTTCTCCCTTCTCCT TC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03579.hp1 HG02451.hp1 HG03579.hp1	a0004 a0038 a0004 a0038	a0004c0024 a0038c0031 a0004c0024 a0038c0031	a0004c0024t0007 a0038c0031t0001 a0004c0024t0007 a0038c0031t0001	a0004c0024t0007g0255 a0038c0031t0001g0007 a0004c0024t0007g0255 a0038c0031t0001g0007	2	253	0.0079	51	c.165 others(70): Show c.165+36440_165+36441insCCCTTCTCCTTCTCCCTTCTCCTTCT CCCTTCTCCTTCTCCCTTCTCCTTC	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9			chrX	TogoVar
SIK2_chr11_111597449_111735855	111603492	T T	TACTCATA others(44): Show TACTCATAAAGCCCTCAACTGCTTCCTGACGGTGAATCCTGCACCCTCTT CA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0098 a0001c0001t0027g0098	1	196	0.0051	51	c.135 others(66): Show c.135+795_135+845dupACTCATAAAGCCCTCAACTGCTTCCTGACG GTGAATCCTGCACCCTCTTCA	SIK2	ENSG00000170145.5	transcript	ENST00000304987.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
SIL1_chr5_138941724_139203368	139200839	T T	TAAAAATG others(44): Show TAAAAATGGTCAGGTTGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0200 a0001c0001t0006g0200	1	198	0.0051	51	c.-25 others(62): Show c.-2582_-2581insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TCAACCTGACCATTTTT	SIL1	ENSG00000120725.13	transcript	ENST00000394817.7	protein_coding		2472		chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306172	G G	GCCCCCTG others(44): Show GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03041.hp2 NA18522.hp2 HG02280.hp1 HG03041.hp2 NA18522.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0353 a0003c0004t0001g0354 a0003c0004t0001g0001 a0003c0004t0001g0353 a0003c0004t0001g0354	3	358	0.0084	51	c.173 others(70): Show c.1735-7486_1735-7485insGAGGTGGGGGGGGTCAGCCCCCCTGC CCGGCCAGCCGCCCCGTCCGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306178	T T	TGCCCGGC others(44): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTAGGGGGGGTCAGCCCCC CC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	124	0.0081	51	c.173 others(70): Show c.1735-7486_1735-7485insGAGGTAGGGGGGGTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306178	T T	TGCCCGGC others(44): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(222): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0012	a0001c0001 a0001c0010 a0002c0002 others(8): Show a0001c0001 a0001c0010 a0002c0002 a0002c0003 a0002c0014 a0003c0004 a0004c0005 a0005c0006 a0008c0009 a0009c0013 a0012c0012	a0001c0001t0001 a0001c0001t0005 a0001c0010t0001 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0010t0001 a0002c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0014t0002 a0003c0004t0001 a0004c0005t0001 a0005c0006t0002 a0008c0009t0001 a0009c0013t0001 a0012c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(222): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0360 a0001c0001t0005g0151 a0001c0010t0001g0036 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0284 a0002c0002t0002g0298 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0334 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0340 a0002c0002t0002g0341 a0002c0002t0002g0342 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0347 a0002c0002t0002g0358 a0002c0003t0001g0349 a0002c0003t0001g0350 a0002c0003t0001g0351 a0002c0003t0001g0352 a0002c0003t0002g0281 a0002c0003t0002g0282 a0002c0003t0002g0283 a0002c0003t0002g0329 a0002c0014t0002g0331 a0003c0004t0001g0355 a0003c0004t0001g0356 a0003c0004t0001g0357 a0004c0005t0001g0161 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0005c0006t0002g0330 a0005c0006t0002g0332 a0005c0006t0002g0333 a0005c0006t0002g0335 a0008c0009t0001g0039 a0008c0009t0001g0135 a0009c0013t0001g0016 a0012c0012t0001g0060	225	348	0.6466	51	c.173 others(70): Show c.1735-7486_1735-7485insGAGGTGGGGGGGGTCAGCCCCCCCGC CCGGCCAGCCGCCCCGTCCGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306190	C C	CGCCCCGT others(44): Show CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCGGCCAG CT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	358	0.0028	51	c.173 others(70): Show c.1735-7486_1735-7485insGAGGTGGGGGGGGTCAGCCCCCCCGC CCGGCCAGCTGCCCCGTCCGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SIMC1_chr5_176233424_176350989	176306299	G G	GCCCCCTG others(44): Show GCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA GC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18949.hp2 HG03130.hp1 NA18949.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0016 a0002c0002 a0003c0016	a0002c0002t0002 a0003c0016t0001 a0002c0002t0002 a0003c0016t0001	a0002c0002t0002g0321 a0003c0016t0001g0348 a0002c0002t0002g0321 a0003c0016t0001g0348	2	357	0.0056	51	c.173 others(70): Show c.1735-7387_1735-7386insTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGTCAGCCCCCC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0247 a0002c0002t0001g0247	1	194	0.0052	51	c.46+ others(68): Show c.46+16551_46+16552insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SKAP1_chr17_48128442_48435214	48413523	A A	AAAAAAAA others(44): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT AT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0050 a0001c0003t0001g0050	1	194	0.0052	51	c.46+ others(68): Show c.46+16551_46+16552insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTTTT	SKAP1	ENSG00000141293.16	transcript	ENST00000336915.11	protein_coding	1/12			chr17	TogoVar
SLC10A6_chr4_86818468_86854384	86842874	C C	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	238	0.0042	51	c.377 others(68): Show c.377+5864_377+5865insAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar

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