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	4065694	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG00738.hp2 others(39): Show HG00408.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01891.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0009 others(13): Show a0001 a0002 a0009 a0010 a0011 a0013 a0014 a0015 a0019 a0020 a0021 a0022 a0024 a0028 a0031 a0035	a0001c0007 a0001c0011 a0001c0017 others(36): Show a0001c0007 a0001c0011 a0001c0017 a0001c0025 a0001c0026 a0001c0027 a0001c0031 a0001c0046 a0001c0048 a0001c0049 a0001c0067 a0001c0071 a0001c0072 a0001c0087 a0002c0009 a0002c0013 a0002c0041 a0002c0043 a0002c0053 a0002c0054 a0002c0066 a0002c0090 a0009c0019 a0009c0020 a0010c0079 a0010c0082 a0011c0021 a0011c0022 a0013c0070 a0014c0085 a0015c0074 a0019c0050 a0020c0063 a0021c0068 a0022c0094 a0024c0023 a0028c0018 a0031c0069 a0035c0073	a0001c0007t0021 a0001c0011t0008 a0001c0011t0039 others(38): Show a0001c0007t0021 a0001c0011t0008 a0001c0011t0039 a0001c0017t0011 a0001c0025t0024 a0001c0026t0002 a0001c0027t0020 a0001c0031t0001 a0001c0046t0022 a0001c0048t0001 a0001c0049t0036 a0001c0067t0068 a0001c0071t0057 a0001c0072t0065 a0001c0087t0009 a0002c0009t0004 a0002c0009t0056 a0002c0013t0064 a0002c0041t0007 a0002c0043t0035 a0002c0053t0067 a0002c0054t0002 a0002c0066t0023 a0002c0090t0010 a0009c0019t0074 a0009c0020t0070 a0010c0079t0054 a0010c0082t0001 a0011c0021t0073 a0011c0022t0072 a0013c0070t0026 a0014c0085t0043 a0015c0074t0042 a0019c0050t0019 a0020c0063t0007 a0021c0068t0014 a0022c0094t0025 a0024c0023t0030 a0028c0018t0071 a0031c0069t0069 a0035c0073t0001	a0001c0007t0021g0110 a0001c0011t0008g0028 a0001c0011t0039g0061 others(39): Show a0001c0007t0021g0110 a0001c0011t0008g0028 a0001c0011t0039g0061 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0025t0024g0089 a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0031t0001g0018 a0001c0046t0022g0091 a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0067t0068g0001 a0001c0071t0057g0031 a0001c0072t0065g0027 a0001c0087t0009g0054 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0013t0064g0023 a0002c0041t0007g0108 a0002c0043t0035g0079 a0002c0053t0067g0034 a0002c0054t0002g0101 a0002c0066t0023g0088 a0002c0090t0010g0047 a0009c0019t0074g0006 a0009c0020t0070g0009 a0010c0079t0054g0071 a0010c0082t0001g0076 a0011c0021t0073g0007 a0011c0022t0072g0008 a0013c0070t0026g0112 a0014c0085t0043g0010 a0015c0074t0042g0081 a0019c0050t0019g0092 a0020c0063t0007g0106 a0021c0068t0014g0014 a0022c0094t0025g0049 a0024c0023t0030g0113 a0028c0018t0071g0005 a0031c0069t0069g0064 a0035c0073t0001g0016	42	62	0.6774	-15	c.291 others(34): Show c.2912-2123_2912-2109delTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	19/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4084662	ATATGTTA others(8): Show ATATGTTATGTTACGT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp2 HG02922.hp1 others(6): Show HG02145.hp1 HG02559.hp2 HG02922.hp1 HG02965.hp1 HG03209.hp2 HG03540.hp2 NA18522.hp1 NA20129.hp2 NA20300.hp2	a0001 a0024 a0035 a0001 a0024 a0035	a0001c0002 a0001c0011 a0001c0026 others(6): Show a0001c0002 a0001c0011 a0001c0026 a0001c0027 a0001c0048 a0001c0049 a0001c0072 a0024c0023 a0035c0073	a0001c0002t0040 a0001c0011t0039 a0001c0026t0002 others(6): Show a0001c0002t0040 a0001c0011t0039 a0001c0026t0002 a0001c0027t0020 a0001c0048t0001 a0001c0049t0036 a0001c0072t0065 a0024c0023t0030 a0035c0073t0001	a0001c0002t0040g0084 a0001c0011t0039g0061 a0001c0026t0002g0086 others(6): Show a0001c0002t0040g0084 a0001c0011t0039g0061 a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0048t0001g0029 a0001c0049t0036g0109 a0001c0072t0065g0027 a0024c0023t0030g0113 a0035c0073t0001g0016	9	108	0.0833	-15	c.332 others(34): Show c.3324+5091_3324+5105delCGTTATGTTATGTTA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4162369	GTTATTAT others(8): Show GTTATTATTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG02559.hp1 others(14): Show HG00639.hp1 HG01891.hp1 HG02559.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 NA18906.hp2 NA19030.hp1 NA20129.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0011 a0012	a0001c0008 a0001c0010 a0001c0026 others(13): Show a0001c0008 a0001c0010 a0001c0026 a0001c0037 a0001c0067 a0001c0088 a0001c0091 a0001c0093 a0001c0095 a0002c0041 a0002c0066 a0002c0090 a0005c0057 a0005c0058 a0011c0022 a0012c0015	a0001c0008t0007 a0001c0010t0002 a0001c0026t0002 others(13): Show a0001c0008t0007 a0001c0010t0002 a0001c0026t0002 a0001c0037t0002 a0001c0067t0068 a0001c0088t0009 a0001c0091t0010 a0001c0093t0006 a0001c0095t0029 a0002c0041t0007 a0002c0066t0023 a0002c0090t0010 a0005c0057t0013 a0005c0058t0012 a0011c0022t0072 a0012c0015t0017	a0001c0008t0007g0067 a0001c0010t0002g0085 a0001c0026t0002g0086 others(14): Show a0001c0008t0007g0067 a0001c0010t0002g0085 a0001c0026t0002g0086 a0001c0037t0002g0077 a0001c0067t0068g0001 a0001c0088t0009g0048 a0001c0091t0010g0055 a0001c0093t0006g0053 a0001c0095t0029g0050 a0002c0041t0007g0108 a0002c0066t0023g0088 a0002c0090t0010g0047 a0005c0057t0013g0045 a0005c0058t0012g0063 a0011c0022t0072g0008 a0012c0015t0017g0059 a0012c0015t0017g0066	17	58	0.2931	-15	c.480 others(32): Show c.4800+546_4800+560delATTATTATTATTATT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	32/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4224982	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02145.hp1 others(2): Show HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02615.hp2 HG02886.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0012 a0002c0041 others(1): Show a0001c0002 a0002c0012 a0002c0041 a0005c0065	a0001c0002t0040 a0002c0012t0016 a0002c0041t0007 others(1): Show a0001c0002t0040 a0002c0012t0016 a0002c0041t0007 a0005c0065t0037	a0001c0002t0040g0084 a0002c0012t0016g0002 a0002c0012t0016g0003 others(2): Show a0001c0002t0040g0084 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0041t0007g0108 a0005c0065t0037g0065	5	15	0.3333	-15	c.582 others(34): Show c.5827+3639_5827+3653delAAAAAAAAAAAAAAA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	40/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73483692	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02129.hp2 HG02148.hp1 others(5): Show HG02056.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG03834.hp1 NA18612.hp2 NA19010.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0013 others(3): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0001c0036 a0003c0009	a0001c0001t0002 a0001c0001t0009 a0001c0002t0096 others(4): Show a0001c0001t0002 a0001c0001t0009 a0001c0002t0096 a0001c0013t0013 a0001c0014t0092 a0001c0036t0029 a0003c0009t0002	a0001c0001t0002g0027 a0001c0001t0009g0122 a0001c0002t0096g0125 others(5): Show a0001c0001t0002g0027 a0001c0001t0009g0122 a0001c0002t0096g0125 a0001c0013t0013g0193 a0001c0014t0092g0083 a0001c0036t0029g0124 a0003c0009t0002g0089 a0003c0009t0002g0200	8	202	0.0396	-15	c.225 others(34): Show c.225-11489_225-11475delTATATATATATATAT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73483693	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01361.hp1 HG02735.hp1 others(1): Show HG00323.hp1 HG01361.hp1 HG02735.hp1 NA18944.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0007 a0001c0082 a0002c0028 others(1): Show a0001c0007 a0001c0082 a0002c0028 a0010c0100	a0001c0007t0003 a0001c0082t0005 a0002c0028t0062 others(1): Show a0001c0007t0003 a0001c0082t0005 a0002c0028t0062 a0010c0100t0069	a0001c0007t0003g0026 a0001c0082t0005g0094 a0002c0028t0062g0024 others(1): Show a0001c0007t0003g0026 a0001c0082t0005g0094 a0002c0028t0062g0024 a0010c0100t0069g0091	4	199	0.0201	-15	c.225 others(34): Show c.225-11490_225-11476delATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73483695	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	202	0.0050	-15	c.225 others(34): Show c.225-11492_225-11478delAAATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDR16C5_chr8_56295005_56325175	56310290	AGGAAGGA others(8): Show AGGAAGGAGGAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	393	0.0025	-15	c.466 others(32): Show c.466-1278_466-1264delCCTCCTCCTCCTTCC	SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6			chr8	TogoVar
SDR39U1_chr14_24434766_24447776	24443903	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00408.hp2 others(134): Show HG00140.hp1 HG00280.hp1 HG00408.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01934.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03239.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0008 a0003c0003 others(1): Show a0001c0001 a0001c0008 a0003c0003 a0006c0009	a0001c0001t0001 a0001c0008t0001 a0003c0003t0002 others(1): Show a0001c0001t0001 a0001c0008t0001 a0003c0003t0002 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0008t0001g0014 a0003c0003t0002g0003 a0006c0009t0001g0017	137	145	0.9448	-15	c.-11 others(26): Show c.-1149_-1135delAAAAAAAAAAAAAAA	SDR39U1	ENSG00000100445.18	transcript	ENST00000399395.8	protein_coding		1128		chr14	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp1 HG00558.hp2 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0131 a0001c0001t0001g0037 a0001c0001t0001g0131	2	9	0.2222	-15	c.52- others(30): Show c.52-8964_52-8950delTTTTTTTTTTTTTTT	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar
SEC13_chr3_10295931_10326112	10319777	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	378	0.0026	-15	c.3+1 others(28): Show c.3+1258_3+1272delCTCTCTCTCTCTCTC	SEC13	ENSG00000157020.18	transcript	ENST00000350697.8	protein_coding	1/8			chr3	TogoVar
SEC13_chr3_10295931_10326112	10321729	TATCTATC others(8): Show TATCTATCTATCTATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00735.hp1 others(15): Show HG00438.hp1 HG00609.hp1 HG00735.hp1 HG00741.hp1 HG01109.hp2 HG01346.hp1 HG02129.hp2 HG02735.hp2 HG03704.hp1 HG03831.hp1 HG04228.hp1 HG04228.hp2 NA18950.hp2 NA18962.hp1 NA18969.hp1 NA18982.hp2 NA19066.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0137 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0197	18	377	0.0477	-15	c.-69 others(24): Show c.-692_-678delGATAGATAGATAGAT	SEC13	ENSG00000157020.18	transcript	ENST00000350697.8	protein_coding		618		chr3	TogoVar
SEC14L1_chr17_77135969_77222101	77180041	TTGTTTTG others(8): Show TTGTTTTGTTATGTTA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00733.hp2 HG00735.hp2 others(53): Show HG00423.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp2 HG01106.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01934.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02723.hp1 HG03239.hp2 HG03579.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG04228.hp2 HG06807.hp2 NA18940.hp1 NA18941.hp1 NA18947.hp1 NA18952.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18971.hp2 NA18989.hp1 NA18993.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19010.hp1 NA19058.hp2 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0007c0011	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(11): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0052 a0001c0001t0053 a0001c0002t0005 a0001c0002t0006 a0001c0003t0002 a0001c0003t0024 a0001c0005t0011 a0007c0011t0011	a0001c0001t0002g0014 a0001c0001t0002g0033 a0001c0001t0002g0216 others(51): Show a0001c0001t0002g0014 a0001c0001t0002g0033 a0001c0001t0002g0216 a0001c0001t0002g0233 a0001c0001t0002g0239 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0006g0203 a0001c0001t0006g0206 a0001c0001t0006g0221 a0001c0001t0006g0229 a0001c0001t0007g0391 a0001c0001t0007g0406 a0001c0001t0020g0394 a0001c0001t0023g0271 a0001c0001t0023g0278 a0001c0001t0025g0013 a0001c0001t0052g0253 a0001c0001t0053g0249 a0001c0002t0005g0340 a0001c0002t0006g0222 a0001c0003t0002g0190 a0001c0003t0002g0234 a0001c0003t0002g0238 a0001c0003t0002g0240 a0001c0003t0002g0241 a0001c0003t0002g0254 a0001c0003t0002g0259 a0001c0003t0002g0260 a0001c0003t0002g0261 a0001c0003t0002g0262 a0001c0003t0002g0263 a0001c0003t0002g0264 a0001c0003t0002g0265 a0001c0003t0002g0267 a0001c0003t0024g0255 a0001c0003t0024g0258 a0001c0005t0011g0019 a0007c0011t0011g0020	56	357	0.1569	-15	c.64- others(32): Show c.64-10757_64-10743delTTGTTATGTTATGTT	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L1_chr17_77135969_77222101	77180046	TTGTTATG others(8): Show TTGTTATGTTATGTTA	T T	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18994.hp2 NA19065.hp2 others(2): Show NA18972.hp2 NA18994.hp2 NA19065.hp2 NA19076.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0003 a0001c0001t0004 a0001c0002t0003	a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0071 others(2): Show a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0071 a0001c0001t0004g0078 a0001c0002t0003g0357	5	226	0.0221	-15	c.64- others(32): Show c.64-10716_64-10702delTGTTATGTTATGTTA	SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L5_chr16_4953330_5024157	4981255	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp1 others(99): Show HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01515.hp1 HG01517.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02523.hp1 HG02559.hp1 HG02630.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18966.hp1 NA18967.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19087.hp2 NA19091.hp2 NA20300.hp1 NA20905.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0012	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0006c0027 a0007c0028 a0012c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0032 a0001c0001t0034 a0001c0001t0048 a0001c0001t0056 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0003t0003 a0001c0004t0033 a0001c0005t0001 a0001c0005t0015 a0001c0007t0001 a0001c0007t0024 a0006c0027t0003 a0007c0028t0001 a0012c0014t0001	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(99): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0101 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0177 a0001c0001t0001g0268 a0001c0001t0001g0275 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0060 a0001c0001t0002g0138 a0001c0001t0002g0345 a0001c0001t0004g0008 a0001c0001t0004g0065 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0076 a0001c0001t0004g0099 a0001c0001t0004g0277 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0303 a0001c0001t0006g0086 a0001c0001t0006g0092 a0001c0001t0020g0096 a0001c0001t0021g0098 a0001c0001t0022g0005 a0001c0001t0022g0089 a0001c0001t0023g0218 a0001c0001t0023g0222 a0001c0001t0032g0044 a0001c0001t0034g0214 a0001c0001t0048g0104 a0001c0001t0056g0236 a0001c0002t0001g0077 a0001c0002t0002g0021 a0001c0002t0002g0033 a0001c0002t0002g0053 a0001c0002t0004g0075 a0001c0003t0003g0029 a0001c0003t0003g0149 a0001c0004t0033g0097 a0001c0005t0001g0002 a0001c0005t0001g0015 a0001c0005t0001g0028 a0001c0005t0001g0035 a0001c0005t0001g0042 a0001c0005t0001g0087 a0001c0005t0001g0223 a0001c0005t0015g0036 a0001c0005t0015g0047 a0001c0005t0015g0048 a0001c0007t0001g0057 a0001c0007t0001g0100 a0001c0007t0024g0055 a0001c0007t0024g0056 a0006c0027t0003g0154 a0007c0028t0001g0014 a0012c0014t0001g0062	102	153	0.6667	-15	c.64- others(30): Show c.64-6288_64-6274delTTTTTTTTTTTTTTT	SEC14L5	ENSG00000103184.12	transcript	ENST00000251170.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
SEC16B_chr1_177923788_177975058	177935267	ATGCCTCC others(8): Show ATGCCTCCCCAGCCCC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp1 HG02572.hp1 others(4): Show HG01243.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1	a0012 a0013 a0030 a0012 a0013 a0030	a0012c0019 a0013c0020 a0030c0040 a0012c0019 a0013c0020 a0030c0040	a0012c0019t0001 a0012c0019t0006 a0013c0020t0001 others(1): Show a0012c0019t0001 a0012c0019t0006 a0013c0020t0001 a0030c0040t0001	a0012c0019t0001g0073 a0012c0019t0001g0228 a0012c0019t0006g0051 others(3): Show a0012c0019t0001g0073 a0012c0019t0001g0228 a0012c0019t0006g0051 a0013c0020t0001g0028 a0013c0020t0001g0066 a0030c0040t0001g0096	7	406	0.0172	-15	c.257 others(34): Show c.2571+1016_2571+1030delGGGGCTGGGGAGGCA	SEC16B	ENSG00000120341.19	transcript	ENST00000308284.11	protein_coding	20/25			chr1	TogoVar
SEC22A_chr3_123196943_123279136	123260131	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG02056.hp2 others(3): Show HG00423.hp1 HG00642.hp1 HG02056.hp2 HG02135.hp2 HG03831.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0034 others(3): Show a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0043 a0001c0001t0003g0046 a0001c0001t0003g0047	6	33	0.1818	-15	c.723 others(30): Show c.723+566_723+580delAAAAAAAAAAAAAAA	SEC22A	ENSG00000121542.12	transcript	ENST00000492595.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC23A_chr14_39026919_39108235	39065997	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00609.hp2 others(36): Show HG00099.hp2 HG00438.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01099.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp2 HG01943.hp1 HG02055.hp2 HG02074.hp2 HG02155.hp2 HG02280.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02717.hp2 HG02965.hp1 HG03225.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 NA18944.hp2 NA18992.hp1 NA19009.hp2 NA19030.hp1 NA19060.hp1 NA19077.hp1 NA19084.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0035 others(36): Show a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294	39	131	0.2977	-15	c.122 others(34): Show c.1228-1019_1228-1005delTTTTTTTTTTTTTTT	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	10/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094428	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18977.hp1 NA18973.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0127 a0001c0001t0001g0131	2	337	0.0059	-15	c.222 others(32): Show c.222-1199_222-1185delATATATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094432	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03688.hp2 NA19068.hp2 others(1): Show HG02280.hp2 HG03688.hp2 NA19068.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0164 a0001c0001t0001g0298 others(1): Show a0001c0001t0001g0138 a0001c0001t0001g0164 a0001c0001t0001g0298 a0001c0001t0001g0348	4	311	0.0129	-15	c.222 others(32): Show c.222-1203_222-1189delAAAAATATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094434	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18972.hp2 NA18992.hp1 others(1): Show HG00609.hp2 NA18972.hp2 NA18992.hp1 NA19077.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0253 a0001c0001t0001g0266 a0001c0001t0001g0277 others(1): Show a0001c0001t0001g0253 a0001c0001t0001g0266 a0001c0001t0001g0277 a0002c0002t0001g0203	4	343	0.0117	-15	c.222 others(32): Show c.222-1205_222-1191delAAAAAAATATATATA	SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19			chr14	TogoVar
SEC23IP_chr10_119887730_119949657	119888088	GCTCTTGG others(8): Show GCTCTTGGAGTCCTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18954.hp1 NA19060.hp2 others(1): Show NA18951.hp1 NA18954.hp1 NA19060.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0015 a0001c0001t0006g0274 a0001c0001t0006g0015 a0001c0001t0006g0274	4	398	0.0101	-15	c.-46 others(26): Show c.-4694_-4680delCTCTTGGAGTCCTTA	SEC23IP	ENSG00000107651.15	transcript	ENST00000369075.8	protein_coding		4641		chr10	TogoVar
SEC24B_chr4_109428815_109545896	109439474	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02040.hp1 HG02055.hp2 others(8): Show HG00621.hp2 HG02040.hp1 HG02055.hp2 HG02523.hp2 HG03704.hp1 HG03942.hp2 NA18957.hp2 NA18960.hp1 NA18979.hp1 NA18998.hp1 NA19010.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0008 a0002c0004 others(1): Show a0001c0003 a0001c0008 a0002c0004 a0004c0005	a0001c0003t0003 a0001c0003t0005 a0001c0008t0008 others(3): Show a0001c0003t0003 a0001c0003t0005 a0001c0008t0008 a0002c0004t0005 a0004c0005t0003 a0004c0005t0005	a0001c0003t0003g0061 a0001c0003t0005g0054 a0001c0003t0005g0055 others(8): Show a0001c0003t0003g0061 a0001c0003t0005g0054 a0001c0003t0005g0055 a0001c0003t0005g0057 a0001c0003t0005g0058 a0001c0003t0005g0060 a0001c0003t0005g0063 a0001c0008t0008g0219 a0002c0004t0005g0062 a0004c0005t0003g0056 a0004c0005t0005g0059	11	33	0.3333	-15	c.133 others(32): Show c.133+5503_133+5517delTTTTTTTTTTTTTTT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC62_chr3_169961807_170003373	169989978	TATATATG others(8): Show TATATATGATATATAG	T T	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	334	0.0030	-15	c.730 others(32): Show c.730+1633_730+1647delAGATATATGATATAT	SEC62	ENSG00000008952.17	transcript	ENST00000337002.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEC62_chr3_169961807_170003373	169990000	GATATATC others(8): Show GATATATCATAATATT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00642.hp1 others(83): Show HG00140.hp1 HG00597.hp1 HG00642.hp1 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02602.hp2 HG02698.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03017.hp2 HG03195.hp1 HG03239.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18946.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18968.hp1 NA18975.hp1 NA18977.hp2 NA18985.hp1 NA18987.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19002.hp2 NA19043.hp2 NA19059.hp1 NA19070.hp2 NA19072.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp1 NA19086.hp2 NA19089.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(9): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0022 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 others(37): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0006g0008 a0001c0001t0006g0014 a0001c0001t0006g0054 a0001c0001t0007g0005 a0001c0001t0007g0082 a0001c0001t0007g0084 a0001c0001t0008g0018 a0001c0001t0011g0076 a0001c0001t0011g0077 a0001c0001t0011g0088 a0001c0001t0012g0015 a0001c0001t0017g0027 a0001c0001t0022g0065 a0001c0001t0037g0032 a0001c0001t0038g0130 a0001c0001t0040g0074 a0001c0001t0041g0015	86	334	0.2575	-15	c.730 others(32): Show c.730+1652_730+1666delATATTATATATCATA	SEC62	ENSG00000008952.17	transcript	ENST00000337002.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SECISBP2L_chr15_48983638_49051446	49005560	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18522.hp2 NA20300.hp1 HG02886.hp2 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0325 a0001c0001t0006g0328 a0001c0001t0006g0332 a0001c0001t0006g0325 a0001c0001t0006g0328 a0001c0001t0006g0332	3	208	0.0144	-15	c.202 others(34): Show c.2027+3641_2027+3655delAAAAAAAAAAAAAAA	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	14/17			chr15	TogoVar
SECISBP2L_chr15_48983638_49051446	49037272	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01243.hp2 HG01943.hp2 others(31): Show HG00621.hp1 HG01243.hp2 HG01943.hp2 HG01952.hp2 HG02004.hp2 HG02071.hp2 HG02083.hp2 HG02165.hp1 HG02523.hp1 HG04204.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18962.hp2 NA18971.hp2 NA18975.hp2 NA18981.hp2 NA18983.hp1 NA18987.hp2 NA18990.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp1 NA19074.hp2 NA19075.hp2 NA19078.hp1 NA19082.hp2 NA19087.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0020 a0001c0001t0001 a0001c0001t0013 a0001c0001t0020	a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 others(27): Show a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0013g0224 a0001c0001t0013g0231 a0001c0001t0020g0237	34	63	0.5397	-15	c.203 others(30): Show c.203+304_203+318delTTTTTTTTTTTTTTT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	2/17			chr15	TogoVar
SECISBP2_chr9_89313500_89364663	89345291	AAATGACC others(8): Show AAATGACCACGCTTTG	A A	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	378	0.0026	-15	c.143 others(34): Show c.1436-1572_1436-1558delGACCACGCTTTGAAT	SECISBP2	ENSG00000187742.15	transcript	ENST00000375807.8	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
SEH1L_chr18_12943011_12992531	12958064	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02451.hp2 HG02572.hp2 others(2): Show HG02080.hp2 HG02451.hp2 HG02572.hp2 NA18522.hp2 NA18986.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0278 a0001c0001t0001g0342 a0001c0001t0001g0343 others(2): Show a0001c0001t0001g0278 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0002c0002t0001g0183	5	7	0.7143	-15	c.309 others(32): Show c.309+2478_309+2492delTTTTTTTTTTTTTTT	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SELENON_chr1_25795193_25823221	25808297	CGCCTGGG others(8): Show CGCCTGGGTGGGCTGT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp2 HG02615.hp2 others(15): Show HG00639.hp2 HG01891.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02809.hp2 HG02965.hp1 HG03130.hp2 NA18906.hp1 NA18944.hp1 NA18961.hp2 NA18972.hp1 NA18986.hp1 NA19000.hp2 NA19011.hp2 NA19055.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0022 a0001c0003 a0001c0005 a0001c0022	a0001c0003t0003 a0001c0003t0013 a0001c0003t0030 others(2): Show a0001c0003t0003 a0001c0003t0013 a0001c0003t0030 a0001c0005t0018 a0001c0022t0018	a0001c0003t0003g0008 a0001c0003t0003g0012 a0001c0003t0003g0153 others(7): Show a0001c0003t0003g0008 a0001c0003t0003g0012 a0001c0003t0003g0153 a0001c0003t0003g0156 a0001c0003t0003g0158 a0001c0003t0013g0109 a0001c0003t0013g0110 a0001c0003t0030g0012 a0001c0005t0018g0157 a0001c0022t0018g0159	18	32	0.5625	-15	c.538 others(30): Show c.538-223_538-209delTGCCTGGGTGGGCTG	SELENON	ENSG00000162430.18	transcript	ENST00000361547.7	protein_coding	4/12		WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3A_chr7_83950777_84199789	83965645	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0268 a0001c0002t0002g0268	1	270	0.0037	-15	c.171 others(34): Show c.1718-2313_1718-2299delTATATATATATATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965649	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0036 a0001c0004t0036	a0001c0004t0036g0012 a0001c0004t0036g0012	1	270	0.0037	-15	c.171 others(34): Show c.1718-2317_1718-2303delTATATATATATATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965651	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01167.hp1 others(4): Show HG01069.hp2 HG01071.hp1 HG01167.hp1 HG01257.hp2 HG02280.hp2 HG04204.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0007 a0001c0001t0009 a0001c0005t0004 a0001c0001t0007 a0001c0001t0009 a0001c0005t0004	a0001c0001t0007g0111 a0001c0001t0007g0134 a0001c0001t0007g0185 others(4): Show a0001c0001t0007g0111 a0001c0001t0007g0134 a0001c0001t0007g0185 a0001c0001t0007g0187 a0001c0001t0007g0236 a0001c0001t0009g0165 a0001c0005t0004g0037	7	273	0.0256	-15	c.171 others(34): Show c.1718-2319_1718-2305delTATATATATATATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965652	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02717.hp1 HG02809.hp1 others(2): Show HG02559.hp2 HG02717.hp1 HG02809.hp1 HG02976.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0009 a0001c0003t0008 a0001c0005t0009 a0001c0001t0009 a0001c0003t0008 a0001c0005t0009	a0001c0001t0009g0162 a0001c0001t0009g0213 a0001c0001t0009g0243 others(2): Show a0001c0001t0009g0162 a0001c0001t0009g0213 a0001c0001t0009g0243 a0001c0003t0008g0071 a0001c0005t0009g0249	5	268	0.0187	-15	c.171 others(34): Show c.1718-2320_1718-2306delATATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	83965654	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0061 a0001c0001t0009g0061	1	264	0.0038	-15	c.171 others(34): Show c.1718-2322_1718-2308delAAATATATATATATA	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	15/16			chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84160262	TATCTATC others(8): Show TATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0209 a0001c0005t0001g0209	1	274	0.0036	-15	c.113 others(34): Show c.113-25326_113-25312delGATAGATAGATAGAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	1/16			chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80851504	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02970.hp2 HG03471.hp1 others(1): Show HG02145.hp1 HG02970.hp2 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0003 a0001c0002t0001 a0001c0008t0003	a0001c0002t0001g0061 a0001c0002t0001g0228 a0001c0002t0001g0230 others(1): Show a0001c0002t0001g0061 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0008t0003g0231	4	29	0.1379	-15	c.104 others(34): Show c.104-22774_104-22760delTTTTTTTTTTTTTTT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83363860	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00639.hp2 others(70): Show HG00408.hp2 HG00438.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01167.hp1 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01928.hp2 HG01993.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02896.hp1 HG02897.hp1 HG03239.hp1 HG03491.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp2 NA18939.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18961.hp1 NA18961.hp2 NA18963.hp2 NA18983.hp1 NA19002.hp2 NA19004.hp1 NA19043.hp1 NA19058.hp2 NA19074.hp1 NA19077.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0015 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0031 a0001c0001t0035 a0001c0002t0001 a0001c0002t0003 a0001c0002t0020 a0001c0002t0021 a0001c0002t0030 a0001c0002t0039 a0001c0002t0043 a0001c0002t0055 a0001c0002t0068 a0001c0003t0001 a0001c0003t0006 a0001c0003t0009 a0001c0003t0053 a0001c0011t0009 a0001c0015t0001 a0002c0004t0001 a0002c0004t0057 a0002c0004t0061	a0001c0001t0001g0042 a0001c0001t0001g0094 a0001c0001t0001g0095 others(70): Show a0001c0001t0001g0042 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0149 a0001c0001t0003g0098 a0001c0001t0006g0189 a0001c0001t0031g0009 a0001c0001t0035g0015 a0001c0002t0001g0037 a0001c0002t0001g0046 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0074 a0001c0002t0001g0104 a0001c0002t0001g0118 a0001c0002t0001g0120 a0001c0002t0001g0139 a0001c0002t0001g0144 a0001c0002t0001g0150 a0001c0002t0003g0044 a0001c0002t0003g0065 a0001c0002t0003g0077 a0001c0002t0003g0084 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0155 a0001c0002t0003g0166 a0001c0002t0020g0112 a0001c0002t0020g0134 a0001c0002t0021g0069 a0001c0002t0021g0159 a0001c0002t0030g0008 a0001c0002t0039g0023 a0001c0002t0043g0162 a0001c0002t0055g0079 a0001c0002t0068g0221 a0001c0003t0001g0030 a0001c0003t0001g0032 a0001c0003t0001g0035 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0053 a0001c0003t0001g0063 a0001c0003t0001g0075 a0001c0003t0001g0076 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0089 a0001c0003t0001g0097 a0001c0003t0001g0103 a0001c0003t0001g0109 a0001c0003t0001g0115 a0001c0003t0001g0126 a0001c0003t0001g0151 a0001c0003t0006g0200 a0001c0003t0006g0201 a0001c0003t0006g0202 a0001c0003t0006g0203 a0001c0003t0006g0204 a0001c0003t0006g0205 a0001c0003t0009g0191 a0001c0003t0053g0083 a0001c0011t0009g0197 a0001c0015t0001g0163 a0002c0004t0001g0152 a0002c0004t0057g0048 a0002c0004t0061g0185	73	99	0.7374	-15	c.37 others(26): Show c.3711_*3725delAAAAAAAAAAAAAAA	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	17/17	3711		chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83533554	GATAAAAT others(8): Show GATAAAATAAAATAAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG00609.hp1 others(82): Show HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG02056.hp2 HG02109.hp2 HG02148.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03942.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp2 NA18961.hp1 NA18963.hp1 NA18983.hp2 NA18984.hp1 NA18995.hp1 NA19002.hp1 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19240.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0002c0004 a0003c0007 a0003c0009 a0004c0013	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(35): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0001c0001t0018 a0001c0001t0022 a0001c0001t0025 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0060 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0006 a0001c0003t0050 a0001c0005t0007 a0001c0005t0011 a0001c0005t0014 a0001c0005t0033 a0001c0005t0059 a0001c0008t0010 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0009 a0002c0004t0015 a0002c0004t0051 a0002c0004t0057 a0003c0007t0004 a0003c0007t0023 a0003c0007t0026 a0003c0009t0037 a0004c0013t0002	a0001c0001t0004g0179 a0001c0001t0006g0189 a0001c0001t0008g0190 others(82): Show a0001c0001t0004g0179 a0001c0001t0006g0189 a0001c0001t0008g0190 a0001c0001t0016g0193 a0001c0001t0016g0194 a0001c0001t0016g0198 a0001c0001t0018g0017 a0001c0001t0022g0055 a0001c0001t0022g0177 a0001c0001t0025g0001 a0001c0001t0028g0004 a0001c0001t0034g0016 a0001c0001t0035g0015 a0001c0001t0047g0128 a0001c0001t0048g0129 a0001c0001t0049g0176 a0001c0001t0060g0180 a0001c0002t0001g0046 a0001c0002t0001g0118 a0001c0002t0001g0127 a0001c0002t0002g0061 a0001c0002t0003g0036 a0001c0002t0003g0041 a0001c0002t0003g0044 a0001c0002t0003g0119 a0001c0003t0001g0028 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0038 a0001c0003t0001g0039 a0001c0003t0001g0040 a0001c0003t0001g0070 a0001c0003t0001g0109 a0001c0003t0001g0115 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0148 a0001c0003t0001g0151 a0001c0003t0001g0157 a0001c0003t0006g0200 a0001c0003t0006g0201 a0001c0003t0006g0202 a0001c0003t0006g0203 a0001c0003t0006g0204 a0001c0003t0006g0205 a0001c0003t0050g0029 a0001c0005t0007g0210 a0001c0005t0007g0215 a0001c0005t0011g0220 a0001c0005t0011g0222 a0001c0005t0011g0223 a0001c0005t0011g0225 a0001c0005t0014g0027 a0001c0005t0033g0014 a0001c0005t0059g0132 a0001c0008t0010g0192 a0002c0004t0001g0106 a0002c0004t0001g0124 a0002c0004t0002g0054 a0002c0004t0002g0088 a0002c0004t0002g0110 a0002c0004t0002g0111 a0002c0004t0002g0113 a0002c0004t0002g0117 a0002c0004t0002g0121 a0002c0004t0002g0122 a0002c0004t0002g0123 a0002c0004t0002g0142 a0002c0004t0002g0160 a0002c0004t0002g0164 a0002c0004t0002g0167 a0002c0004t0003g0087 a0002c0004t0009g0188 a0002c0004t0015g0196 a0002c0004t0051g0137 a0002c0004t0057g0048 a0003c0007t0004g0154 a0003c0007t0023g0143 a0003c0007t0023g0165 a0003c0007t0026g0006 a0003c0009t0037g0018 a0004c0013t0002g0153	85	196	0.4337	-15	c.116 others(34): Show c.116-43295_116-43281delTTTATTTTATTTTAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83630883	TATTTTTA others(8): Show TATTTTTAACGCATAA	T T	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0142 a0002c0004t0002g0142	1	224	0.0045	-15	c.115 others(34): Show c.115+17530_115+17544delTTATGCGTTAAAAAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9085337	CCCCTCTC others(8): Show CCCCTCTCATTACAGG	C C	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0048 a0001c0005t0048	a0001c0005t0048g0022 a0001c0005t0048g0022	1	132	0.0076	-15	c.207 others(36): Show c.2074-18706_2074-18692delCCTGTAATGAGAGGG	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	16/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9123258	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18961.hp1 NA18964.hp2 others(3): Show NA18944.hp1 NA18961.hp1 NA18964.hp2 NA18966.hp2 NA18970.hp2 NA18989.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0009 a0001c0004 a0001c0005 a0001c0009	a0001c0004t0001 a0001c0004t0005 a0001c0005t0001 others(3): Show a0001c0004t0001 a0001c0004t0005 a0001c0005t0001 a0001c0005t0002 a0001c0005t0048 a0001c0009t0001	a0001c0004t0001g0041 a0001c0004t0005g0050 a0001c0005t0001g0054 others(3): Show a0001c0004t0001g0041 a0001c0004t0005g0050 a0001c0005t0001g0054 a0001c0005t0002g0115 a0001c0005t0048g0022 a0001c0009t0001g0045	6	15	0.4000	-15	c.160 others(32): Show c.1600-436_1600-422delTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9131644	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0080 a0001c0001t0053g0080	1	132	0.0076	-15	c.159 others(34): Show c.1599+4845_1599+4859delGTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9231465	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0080 a0001c0001t0053g0080	1	2	0.5000	-15	c.334 others(32): Show c.334-4513_334-4499delTTTTTTTTTTTTTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	6/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353339	AAAGGAAA others(8): Show AAAGGAAAGGAAAGGG	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0073 a0001c0002t0022g0073	1	120	0.0083	-15	c.125 others(34): Show c.125-15542_125-15528delCCCTTTCCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122983716	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0037 a0002c0002t0002g0037	1	31	0.0323	-15	c.-38 others(34): Show c.-38-22430_-38-22416delTTTTTTTTTTTTTTT	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	1/22			chr3	TogoVar
SEMA5B_chr3_122904082_123032763	123030663	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	288	0.0035	-15	c.-32 others(26): Show c.-3253_-3239delGAGAGAGAGAGAGAG	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding		2901		chr3	TogoVar
SEMA6A_chr5_116438555_116579823	116448750	CCTCTCAA others(8): Show CCTCTCAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0046 a0001c0001t0052g0046	1	302	0.0033	-15	c.189 others(32): Show c.1895-954_1895-940delTTTTTTTTTTGAGAG	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	18/18			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116467882	AGTGGTGG others(8): Show AGTGGTGGTGGTGGTG	A A	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0081 a0001c0001t0012g0081	1	111	0.0090	-15	c.173 others(32): Show c.1730-150_1730-136delCACCACCACCACCAC	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	17/18			chr5	TogoVar
SEMA6A_chr5_116438555_116579823	116536866	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	167	0.0060	-15	c.-38 others(34): Show c.-38-31899_-38-31885delTTTTTTTTTTTTTTT	SEMA6A	ENSG00000092421.17	transcript	ENST00000343348.11	protein_coding	1/18			chr5	TogoVar

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