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
SGPL1_chr10_70810948_70886184	70813914	T T	TCTCTCTC others(11): Show TCTCTCTCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 NA19082.hp1 HG01515.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0239 a0001c0002t0003g0246 a0001c0002t0003g0239 a0001c0002t0003g0246	2	402	0.0050	18	c.-22 others(29): Show c.-2256_-2255insCTCTCTCACACACACACA	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding		2033		chr10	TogoVar
SGPL1_chr10_70810948_70886184	70813914	T T	TCTCTCTC others(11): Show TCTCTCTCTCACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0006 a0001c0002t0025g0006	1	402	0.0025	18	c.-22 others(29): Show c.-2256_-2255insCTCTCTCTCACACACACA	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding		2033		chr10	TogoVar
SGPL1_chr10_70810948_70886184	70813914	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 NA18944.hp2 NA18948.hp1 others(1): Show HG02165.hp2 NA18944.hp2 NA18948.hp1 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0037 a0001c0002t0003 a0001c0002t0037	a0001c0002t0003g0009 a0001c0002t0003g0248 a0001c0002t0037g0254 a0001c0002t0003g0009 a0001c0002t0003g0248 a0001c0002t0037g0254	4	402	0.0100	18	c.-22 others(29): Show c.-2256_-2255insCTCTCTCTCTCACACACA	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding		2033		chr10	TogoVar
SGPL1_chr10_70810948_70886184	70813914	T T	TCTCTCTC others(11): Show TCTCTCTCTCTCTCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0249 a0001c0002t0003g0249	1	402	0.0025	18	c.-22 others(29): Show c.-2256_-2255insCTCTCTCTCTCTCACACA	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding		2033		chr10	TogoVar
SGPL1_chr10_70810948_70886184	70862044	T T	TGGCAGGC others(11): Show TGGCAGGCAGCTCCAGTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01433.hp1 HG01496.hp1 others(1): Show HG00140.hp1 HG01433.hp1 HG01496.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 others(1): Show a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156	4	402	0.0100	18	c.615 others(35): Show c.615+2546_615+2563dupGGCAGGCAGCTCCAGTCC	SGPL1	ENSG00000166224.18	transcript	ENST00000373202.8	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
SGPP1_chr14_63679216_63733065	63688315	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0038 a0001c0002t0015g0038	1	288	0.0035	18	c.775 others(35): Show c.775-1677_775-1660dupTTTTTTTTTTTTTTTTTT	SGPP1	ENSG00000126821.8	transcript	ENST00000247225.7	protein_coding	2/2			chr14	TogoVar
SGPP2_chr2_222419543_222567621	222422285	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02258.hp1 HG02735.hp1 HG01934.hp2 HG02258.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0017 a0001c0001t0031 a0001c0006t0043 a0001c0001t0017 a0001c0001t0031 a0001c0006t0043	a0001c0001t0017g0188 a0001c0001t0031g0158 a0001c0006t0043g0122 a0001c0001t0017g0188 a0001c0001t0031g0158 a0001c0006t0043g0122	3	272	0.0110	18	c.-23 others(29): Show c.-2318_-2317insAAAAAAAAAAAAAAAAAA	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding		2257		chr2	TogoVar
SGPP2_chr2_222419543_222567621	222477063	G G	GTGTATAG others(11): Show GTGTATAGGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp2 HG02572.hp1 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0019 a0001c0005t0036 a0001c0002t0019 a0001c0005t0036	a0001c0002t0019g0162 a0001c0005t0036g0244 a0001c0002t0019g0162 a0001c0005t0036g0244	2	272	0.0074	18	c.378 others(35): Show c.378+2340_378+2341insATAGGTGTGTATATATGT	SGPP2	ENSG00000163082.10	transcript	ENST00000321276.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
SGSH_chr17_80204276_80225333	80206296	T T	TCTAAAAA others(11): Show TCTAAAAAAAATATTTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp2 HG03139.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp2 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0007 a0011 a0013	a0001c0001 a0001c0004 a0001c0011 others(8): Show a0001c0001 a0001c0004 a0001c0011 a0001c0019 a0001c0020 a0002c0002 a0004c0006 a0005c0005 a0007c0009 a0011c0013 a0013c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0004t0001 a0001c0011t0001 a0001c0019t0001 a0001c0020t0001 a0002c0002t0001 a0002c0002t0002 a0004c0006t0001 a0005c0005t0001 a0007c0009t0001 a0011c0013t0001 a0013c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0172 a0001c0001t0001g0178 a0001c0001t0004g0108 a0001c0001t0007g0081 a0001c0001t0007g0118 a0001c0001t0011g0115 a0001c0004t0001g0016 a0001c0004t0001g0126 a0001c0004t0001g0127 a0001c0004t0001g0128 a0001c0004t0001g0129 a0001c0011t0001g0041 a0001c0019t0001g0087 a0001c0020t0001g0070 a0002c0002t0001g0031 a0002c0002t0002g0107 a0004c0006t0001g0035 a0004c0006t0001g0068 a0004c0006t0001g0103 a0004c0006t0001g0122 a0005c0005t0001g0011 a0005c0005t0001g0111 a0005c0005t0001g0131 a0007c0009t0001g0026 a0011c0013t0001g0060 a0013c0014t0001g0080	217	420	0.5167	18	c.41 others(29): Show c.4155_*4156insTTGAAATATTTTTTTTAG	SGSH	ENSG00000181523.13	transcript	ENST00000326317.11	protein_coding		2979		chr17	TogoVar
SGSM1_chr22_24801211_24932578	24807888	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0189 a0001c0001t0005g0189	1	338	0.0030	18	c.63+ others(33): Show c.63+1411_63+1428dupGTGTGTGTGTGTGTGTGT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24822088	C C	CTCTTTTT others(11): Show CTCTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	338	0.0030	18	c.63+ others(35): Show c.63+15605_63+15606insCTTTTTTTTTTTTTTTTT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24860912	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0090 a0002c0002t0007g0090	1	338	0.0030	18	c.926 others(35): Show c.926+1073_926+1074insTATATATATATATATATA	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24860914	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0200 a0002c0002t0002g0200	1	338	0.0030	18	c.926 others(35): Show c.926+1075_926+1076insTATATATATATATATATA	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24860916	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0158 a0001c0001t0018g0158	1	338	0.0030	18	c.926 others(35): Show c.926+1077_926+1078insTATATATATATATATATA	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM1_chr22_24801211_24932578	24887107	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01952.hp2 HG03017.hp2 others(2): Show HG01358.hp2 HG01952.hp2 HG03017.hp2 NA18522.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0009 others(1): Show a0001c0001 a0002c0002 a0002c0009 a0002c0011	a0001c0001t0003 a0002c0002t0007 a0002c0009t0001 others(2): Show a0001c0001t0003 a0002c0002t0007 a0002c0009t0001 a0002c0009t0003 a0002c0011t0001	a0001c0001t0003g0311 a0002c0002t0007g0090 a0002c0009t0001g0058 others(2): Show a0001c0001t0003g0311 a0002c0002t0007g0090 a0002c0009t0001g0058 a0002c0009t0003g0059 a0002c0011t0001g0278	5	338	0.0148	18	c.177 others(35): Show c.1770+393_1770+410dupGTGTGTGTGTGTGTGTGT	SGSM1	ENSG00000167037.19	transcript	ENST00000400358.9	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr22	TogoVar
SGSM2_chr17_2332501_2386054	2338774	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0097 a0003c0013t0001g0097	1	422	0.0024	18	c.57+ others(33): Show c.57+1044_57+1045insTATATATATATATATATA	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2354215	T T	TTTTGTTT others(11): Show TTTTGTTTGTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0101 a0001c0025t0001g0101	1	422	0.0024	18	c.134 others(35): Show c.134-7408_134-7407insTTTGTTTGTTTGTTTTTT	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGTB_chr5_65660928_65727109	65680463	C C	CTACATAG others(11): Show CTACATAGTCTATGGAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp1 HG02897.hp1 others(8): Show HG01109.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 others(1): Show a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0031	a0001c0001t0004g0051 a0001c0001t0007g0010 a0001c0001t0007g0035 others(6): Show a0001c0001t0004g0051 a0001c0001t0007g0010 a0001c0001t0007g0035 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0011g0019 a0001c0001t0011g0147 a0001c0001t0011g0148 a0001c0001t0031g0150	11	360	0.0306	18	c.681 others(31): Show c.681+30_681+31insTTTTCCATAGACTATGTA	SGTB	ENSG00000197860.10	transcript	ENST00000381007.9	protein_coding	8/10			chr5	TogoVar
SGTB_chr5_65660928_65727109	65723814	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0079 a0001c0001t0019g0079	1	360	0.0028	18	c.-19 others(29): Show c.-1938_-1921dupTTTTTTTTTTTTTTTTTT	SGTB	ENSG00000197860.10	transcript	ENST00000381007.9	protein_coding		1706		chr5	TogoVar
SH2B2_chr7_102281868_102326711	102299197	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19057.hp2 HG02055.hp1 NA19057.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0002 a0008c0009t0002 a0001c0001t0002 a0008c0009t0002	a0001c0001t0002g0230 a0008c0009t0002g0095 a0001c0001t0002g0230 a0008c0009t0002g0095	2	406	0.0049	18	c.-29 others(35): Show c.-29-1323_-29-1306dupTTTTTTTTTTTTTTTTTT	SH2B2	ENSG00000160999.11	transcript	ENST00000444095.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SH2D1A_chrX_124341563_124378160	124350357	T T	TACTATAT others(11): Show TACTATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp1 HG01243.hp1 others(6): Show HG01081.hp2 HG01109.hp1 HG01243.hp1 HG02970.hp2 HG03540.hp1 NA18906.hp2 NA18947.hp1 NA18997.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0133 a0001c0001t0002g0132 a0001c0001t0002g0134 others(6): Show a0001c0001t0001g0133 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0241 a0001c0001t0006g0282	9	318	0.0283	18	c.137 others(35): Show c.137+3579_137+3580insCTATATATAATATATAAA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH2D1A_chrX_124341563_124378160	124375177	C C	CTCTCTCT others(11): Show CTCTCTCTCTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0026 a0001c0001t0005g0026	1	318	0.0031	18	c.37 others(29): Show c.3786_*3787insTCTCTCTCTATATATATA	SH2D1A	ENSG00000183918.18	transcript	ENST00000371139.9	protein_coding		2018		chrX	TogoVar
SH2D1B_chr1_162390268_162417136	162400286	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	424	0.0024	18	c.199 others(35): Show c.199-1217_199-1200dupAAAAAAAAAAAAAAAAAA	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	2/3			chr1	TogoVar
SH2D1B_chr1_162390268_162417136	162403511	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0184 a0001c0006t0005g0184	1	424	0.0024	18	c.135 others(33): Show c.135-710_135-709insATATATATATATTTTTTT	SH2D1B	ENSG00000198574.6	transcript	ENST00000367929.3	protein_coding	1/3			chr1	TogoVar
SH2D2A_chr1_156801243_156821848	156817041	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	410	0.0024	18	c.-33 others(27): Show c.-334_-333insGAGAGAGAGAGAGAGAGA	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		194		chr1	TogoVar
SH2D2A_chr1_156801243_156821848	156817047	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00423.hp2 others(79): Show HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01255.hp1 HG01346.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02129.hp1 HG02300.hp1 HG02523.hp1 HG02622.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG03209.hp2 HG03453.hp1 HG03704.hp2 HG03710.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18953.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18970.hp1 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19010.hp1 NA19058.hp1 NA19065.hp1 NA19066.hp2 NA19076.hp2 NA19078.hp1 NA19079.hp2 NA19083.hp2 NA19087.hp1 NA19087.hp2 NA20129.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0009 a0002c0002 others(1): Show a0001c0001 a0001c0009 a0002c0002 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0009t0001 a0002c0002t0001 a0008c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0070 a0001c0001t0003g0022 a0001c0009t0001g0079 a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0091 a0008c0011t0001g0089	82	410	0.2000	18	c.-35 others(27): Show c.-357_-340dupGAGAGAGAGAGAGAGAGA	SH2D2A	ENSG00000027869.12	transcript	ENST00000368199.8	protein_coding		200		chr1	TogoVar
SH2D3C_chr9_127733317_127783666	127757645	G G	GATTATTA others(11): Show GATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00642.hp1 HG01433.hp2 others(13): Show HG00621.hp2 HG00642.hp1 HG01433.hp2 HG03017.hp1 NA18956.hp2 NA18963.hp1 NA18969.hp1 NA18969.hp2 NA18978.hp2 NA19054.hp1 NA19065.hp1 NA19068.hp1 NA19072.hp1 NA19074.hp2 NA19083.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0009 a0001c0002 a0002c0003 a0002c0009	a0001c0002t0001 a0002c0003t0001 a0002c0009t0001 a0001c0002t0001 a0002c0003t0001 a0002c0009t0001	a0001c0002t0001g0016 a0001c0002t0001g0123 a0001c0002t0001g0147 others(12): Show a0001c0002t0001g0016 a0001c0002t0001g0123 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0168 a0001c0002t0001g0173 a0001c0002t0001g0189 a0002c0003t0001g0042 a0002c0003t0001g0079 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0009t0001g0119	16	332	0.0482	18	c.555 others(35): Show c.555+3948_555+3965dupAATAATAATAATAATAAT	SH2D3C	ENSG00000095370.20	transcript	ENST00000314830.13	protein_coding	3/11			chr9	TogoVar
SH2D4A_chr8_19308693_19401218	19373455	T T	TATATATA others(11): Show TATATATATACACACACCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03486.hp2 NA19030.hp2 HG02717.hp2 HG03486.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0003 a0001c0007	a0001c0003t0005 a0001c0007t0005 a0001c0007t0022 a0001c0003t0005 a0001c0007t0005 a0001c0007t0022	a0001c0003t0005g0192 a0001c0007t0005g0270 a0001c0007t0022g0061 a0001c0003t0005g0192 a0001c0007t0005g0270 a0001c0007t0022g0061	3	354	0.0085	18	c.918 others(31): Show c.918-66_918-65insCACACACCCATATATATA	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH2D4A_chr8_19308693_19401218	19382823	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01175.hp2 HG00280.hp1 HG01175.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0007 a0001c0001t0002 a0002c0004t0007	a0001c0001t0002g0344 a0002c0004t0007g0125 a0001c0001t0002g0344 a0002c0004t0007g0125	2	354	0.0057	18	c.104 others(37): Show c.1048+9171_1048+9188dupTTTTTTTTTTTTTTTTTT	SH2D4A	ENSG00000104611.12	transcript	ENST00000265807.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
SH2D4B_chr10_80532902_80651560	80572986	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	322	0.0031	18	c.495 others(35): Show c.495+1421_495+1438dupTTTTTTTTTTTTTTTTTT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
SH2D4B_chr10_80532902_80651560	80600520	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03579.hp2 HG02630.hp1 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0010 a0006c0008 a0001c0010 a0006c0008	a0001c0010t0001 a0006c0008t0006 a0001c0010t0001 a0006c0008t0006	a0001c0010t0001g0015 a0006c0008t0006g0199 a0001c0010t0001g0015 a0006c0008t0006g0199	2	322	0.0062	18	c.644 others(35): Show c.644-3059_644-3058insGTGTGTGTGTGTGTGTGT	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding	4/7			chr10	TogoVar
SH3BGRL2_chr6_79626329_79708655	79648255	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01069.hp1 HG02148.hp1 others(6): Show HG00558.hp2 HG01069.hp1 HG02148.hp1 HG03017.hp2 HG03195.hp2 NA18953.hp2 NA19056.hp2 NA19065.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0016	a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0235 others(6): Show a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0235 a0001c0001t0003g0247 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0005g0214 a0001c0001t0012g0216 a0001c0001t0016g0134	9	348	0.0259	18	c.45+ others(35): Show c.45+16760_45+16777dupATATATATATATATATAT	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SH3BGRL2_chr6_79626329_79708655	79648279	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01981.hp2 HG02257.hp2 others(3): Show HG00639.hp1 HG01981.hp2 HG02257.hp2 HG02486.hp2 HG03098.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0035 others(1): Show a0001c0001t0002 a0001c0001t0022 a0001c0001t0035 a0001c0001t0037	a0001c0001t0002g0049 a0001c0001t0002g0078 a0001c0001t0002g0099 others(3): Show a0001c0001t0002g0049 a0001c0001t0002g0078 a0001c0001t0002g0099 a0001c0001t0022g0070 a0001c0001t0035g0100 a0001c0001t0037g0044	6	348	0.0172	18	c.45+ others(35): Show c.45+16777_45+16778insATATATATATATAAATAT	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SH3BGRL2_chr6_79626329_79708655	79649985	T T	TCTCTCTC others(11): Show TCTCTCTCTCACACACACA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	348	0.0029	18	c.45+ others(35): Show c.45+18480_45+18481insTCTCTCTCACACACACAC	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SH3BGRL3_chr1_26275086_26286522	26282392	A A	ACCGGGAC others(11): Show ACCGGGACCGGGACTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	18	c.12 others(29): Show c.1269_*1270insCCGGGACCGGGACTGGGG	SH3BGRL3	ENSG00000142669.15	transcript	ENST00000270792.10	protein_coding		871		chr1	TogoVar
SH3BGRL_chrX_81197102_81303547	81218794	T T	TATATAGA others(11): Show TATATAGATATAGATATAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02818.hp2 others(2): Show HG02615.hp1 HG02630.hp1 HG02818.hp2 HG03209.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0002g0028 others(2): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0002g0028 a0001c0001t0006g0032 a0001c0001t0006g0033	5	243	0.0206	18	c.45+ others(35): Show c.45+16567_45+16584dupGATATAGATATAGATATA	SH3BGRL	ENSG00000131171.13	transcript	ENST00000373212.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
SH3BP2_chr4_2788085_2846096	2802404	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0262 a0001c0001t0054g0262	1	378	0.0027	18	c.-5+ others(33): Show c.-5+9288_-5+9305dupGTGTGTGTGTGTGTGTGT	SH3BP2	ENSG00000087266.17	transcript	ENST00000503393.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAATAAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	348	0.0029	18	c.118 others(35): Show c.118+1622_118+1623insAAAAAAAAAAAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATAATAAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0010 a0001c0013t0010	a0001c0013t0010g0088 a0001c0013t0010g0088	1	348	0.0029	18	c.118 others(35): Show c.118+1622_118+1623insAAAAAAAAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAAAAAAA others(11): Show AAAAAAAAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02572.hp2 others(3): Show HG01884.hp1 HG02145.hp2 HG02572.hp2 HG03041.hp2 HG03453.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0013 a0002c0001 a0001c0013 a0002c0001	a0001c0013t0001 a0002c0001t0001 a0002c0001t0005 a0001c0013t0001 a0002c0001t0001 a0002c0001t0005	a0001c0013t0001g0009 a0002c0001t0001g0033 a0002c0001t0005g0003 others(2): Show a0001c0013t0001g0009 a0002c0001t0001g0033 a0002c0001t0005g0003 a0002c0001t0005g0034 a0002c0001t0005g0259	6	348	0.0172	18	c.118 others(35): Show c.118+1622_118+1623insAAAAAATAATAATAATAA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235036740	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02559.hp2 HG02809.hp1 others(9): Show HG02145.hp1 HG02559.hp2 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG03486.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp2	a0002 a0011 a0002 a0011	a0002c0001 a0002c0019 a0011c0018 a0002c0001 a0002c0019 a0011c0018	a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 others(3): Show a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0001t0006 a0002c0019t0001 a0011c0018t0002	a0002c0001t0001g0042 a0002c0001t0001g0048 a0002c0001t0001g0093 others(9): Show a0002c0001t0001g0042 a0002c0001t0001g0048 a0002c0001t0001g0093 a0002c0001t0001g0233 a0002c0001t0001g0261 a0002c0001t0001g0273 a0002c0001t0001g0336 a0002c0001t0003g0026 a0002c0001t0004g0156 a0002c0001t0006g0029 a0002c0019t0001g0140 a0011c0018t0002g0339	12	348	0.0345	18	c.118 others(35): Show c.118+1621_118+1638dupAATAATAATAATAATAAT	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP4_chr2_234947017_235060714	235038273	A A	AATATATA others(11): Show AATATATATTATATATAAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0092 a0001c0003t0001g0092	1	348	0.0029	18	c.119 others(35): Show c.119-2598_119-2581dupATATATATATTATATATA	SH3BP4	ENSG00000130147.16	transcript	ENST00000392011.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
SH3BP5_chr3_15249353_15337586	15255316	C C	CTCTTAGA others(11): Show CTCTTAGAATAAATCCCCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0030 a0001c0001t0012g0030	1	376	0.0027	18	c.75 others(27): Show c.752_*769dupAGGGGATTTATTCTAAGA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	9/9	769		chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15265512	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02004.hp2 HG02055.hp2 others(11): Show HG01192.hp2 HG02004.hp2 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG03490.hp2 HG03492.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA19010.hp2 NA19012.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0025 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009	a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0315 others(11): Show a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0315 a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0056 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0025g0173 a0001c0002t0001g0222 a0001c0002t0001g0230 a0001c0002t0002g0079 a0001c0002t0008g0129 a0001c0002t0009g0157	14	376	0.0372	18	c.496 others(35): Show c.496-3241_496-3224dupTGTGTGTGTGTGTGTGTG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	4/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15265512	T T	TCTCACAC others(11): Show TCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0342 a0001c0001t0006g0342	1	376	0.0027	18	c.496 others(35): Show c.496-3224_496-3223insTGTGTGTGTGTGTGTGAG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	4/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15320605	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00621.hp2 HG00673.hp1 others(23): Show HG00140.hp1 HG00621.hp2 HG00673.hp1 HG00741.hp1 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01361.hp2 HG01993.hp1 HG02015.hp2 HG02165.hp1 HG02683.hp2 HG02809.hp2 HG02976.hp2 HG03017.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG04228.hp1 NA18941.hp2 NA18970.hp2 NA19004.hp2 NA19055.hp2 NA19084.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0020 a0003c0005t0002	a0001c0001t0001g0174 a0001c0001t0001g0200 a0001c0001t0001g0204 others(23): Show a0001c0001t0001g0174 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0219 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0270 a0001c0001t0001g0285 a0001c0001t0003g0116 a0001c0002t0001g0184 a0001c0002t0001g0205 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0220 a0001c0002t0001g0254 a0001c0002t0001g0258 a0001c0002t0001g0260 a0001c0002t0001g0272 a0001c0002t0001g0274 a0001c0002t0001g0355 a0001c0002t0020g0153 a0003c0005t0002g0004 a0003c0005t0002g0005	26	376	0.0692	18	c.201 others(35): Show c.201+9881_201+9898dupGTGTGTGTGTGTGTGTGT	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	2/8			chr3	TogoVar
SH3BP5_chr3_15249353_15337586	15320640	A A	ACACACAC others(11): Show ACACACACACACACACGCT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01168.hp2 HG01169.hp1 others(2): Show HG01123.hp1 HG01168.hp2 HG01169.hp1 HG03130.hp1 HG03239.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0160 a0002c0003t0001g0164 a0002c0003t0001g0165 others(2): Show a0002c0003t0001g0160 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0004t0001g0159	5	376	0.0133	18	c.201 others(35): Show c.201+9863_201+9864insAGCGTGTGTGTGTGTGTG	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	2/8			chr3	TogoVar
SH3D19_chr4_151115281_151330605	151194016	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0006 a0002c0008t0006	a0002c0008t0006g0276 a0002c0008t0006g0276	1	282	0.0036	18	c.153 others(35): Show c.153-6571_153-6554dupAAAAAAAAAAAAAAAAAA	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	2/19			chr4	TogoVar
SH3D19_chr4_151115281_151330605	151256013	G G	GGGGAGAG others(11): Show GGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00738.hp2 others(35): Show HG00280.hp1 HG00423.hp2 HG00738.hp2 HG01081.hp2 HG01123.hp2 HG01192.hp2 HG01258.hp1 HG01891.hp1 HG02074.hp1 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02602.hp2 HG02698.hp1 HG02723.hp2 HG03098.hp2 HG03490.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18941.hp2 NA18946.hp1 NA18957.hp1 NA18967.hp2 NA18971.hp1 NA18974.hp1 NA18986.hp1 NA18992.hp1 NA18998.hp1 NA19010.hp1 NA19030.hp2 NA19057.hp2 NA19060.hp2 NA19083.hp1 NA19088.hp2 NA20905.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0006 a0009 a0011	a0001c0001 a0001c0002 a0003c0004 others(4): Show a0001c0001 a0001c0002 a0003c0004 a0004c0011 a0006c0007 a0009c0013 a0011c0015	a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0012 a0001c0002t0001 a0003c0004t0001 a0004c0011t0001 a0006c0007t0001 a0009c0013t0001 a0011c0015t0001	a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0055 others(35): Show a0001c0001t0001g0034 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0221 a0001c0001t0012g0114 a0001c0002t0001g0240 a0003c0004t0001g0070 a0003c0004t0001g0257 a0004c0011t0001g0064 a0006c0007t0001g0100 a0006c0007t0001g0111 a0006c0007t0001g0220 a0006c0007t0001g0223 a0006c0007t0001g0236 a0009c0013t0001g0107 a0011c0015t0001g0148	38	282	0.1348	18	c.113 others(37): Show c.113-29945_113-29928dupTCTCCCTCTCCCTCTCCC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SH3D19_chr4_151115281_151330605	151262676	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	282	0.0036	18	c.113 others(37): Show c.113-36608_113-36591dupGAGAGAGAGAGAGAGAGA	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar

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