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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SHCBP1_chr16_46573591_46626379	46592951	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03225.hp2 NA19043.hp2 HG02970.hp2 HG03225.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0006t0005 a0001c0001t0005 a0001c0006t0005	a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0006t0005g0015 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0006t0005g0015	3	4	0.7500	-13	c.146 others(32): Show c.1464+2588_1464+2600delTTTTTTTTTTTTT		SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	10/12						chr16	TogoVar
SHCBP1_chr16_46573591_46626379	46602553	TATACAGG others(6): Show TATACAGGACCAAG	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp2 HG02970.hp2 others(2): Show HG02622.hp2 HG02965.hp2 HG02970.hp2 HG03225.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0006t0005 a0001c0001t0001 a0001c0001t0005 a0001c0006t0005	a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0005g0141 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0061 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0006t0005g0015	5	182	0.0275	-13	c.121 others(30): Show c.1213+973_1213+985delCTTGGTCCTGTAT		SHCBP1	ENSG00000171241.9	transcript	ENST00000303383.8	protein_coding	8/12						chr16	TogoVar
SHD_chr19_4274266_4295722	4277670	GTTGCAGA others(6): Show GTTGCAGAACCGAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0213 a0001c0001t0004g0213	1	460	0.0022	-13	c.-23 others(24): Show c.-2393_-2381delTTGCAGAACCGAT		SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding					1595		chr19	TogoVar
SHFL_chr19_10081317_10098243	10087721	TGGGAGGT others(6): Show TGGGAGGTGGGGAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01975.hp1 HG03654.hp1 others(2): Show HG01106.hp2 HG01975.hp1 HG03654.hp1 HG03654.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	5	442	0.0113	-13	c.195 others(28): Show c.195+425_195+437delAGGTGGGGAAGGG		SHFL	ENSG00000130813.18	transcript	ENST00000253110.16	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr19	TogoVar
SHF_chr15_45162214_45192966	45168132	TCCTGGGA others(6): Show TCCTGGGAAGAGGA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA19055.hp2 NA19055.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0098 a0005c0006t0002g0098	1	396	0.0025	-13	c.128 others(25): Show c.1281-12_1281delTCCTCTTCCCAGG	p.Ser others(5): Show p.Ser428fs	SHF	ENSG00000138606.20	transcript	ENST00000690270.1	protein_coding	7/7	1296/2215	1281/1467	427/488			chr15	TogoVar
SHISA5_chr3_48462876_48509174	48492150	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01928.hp2 HG02647.hp2 others(2): Show HG01255.hp2 HG01928.hp2 HG02647.hp2 HG03453.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0001t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0001g0127 a0001c0001t0001g0189 a0001c0001t0002g0077 others(2): Show a0001c0001t0001g0127 a0001c0001t0001g0189 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0005t0001g0027	5	98	0.0510	-13	c.233 others(30): Show c.233+8974_233+8986delTTTTTTTTTTTTT		SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5						chr3	TogoVar
SHISA6_chr17_11236213_11569063	11271601	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(101): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00639.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01981.hp1 HG01981.hp2 HG02040.hp1 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18970.hp1 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18999.hp1 NA19005.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0001c0013 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0026 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0002t0007 a0001c0003t0002 a0001c0003t0007 a0001c0003t0011 a0001c0003t0012 a0001c0003t0015 a0001c0003t0035 a0001c0011t0014 a0001c0013t0029 a0003c0010t0002	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 others(101): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0029 a0001c0001t0002g0037 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0164 a0001c0001t0003g0011 a0001c0001t0003g0026 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0047 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0063 a0001c0001t0003g0127 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0004g0032 a0001c0001t0004g0042 a0001c0001t0004g0058 a0001c0001t0004g0108 a0001c0001t0004g0130 a0001c0001t0004g0161 a0001c0001t0004g0168 a0001c0001t0005g0089 a0001c0001t0005g0145 a0001c0001t0005g0166 a0001c0001t0005g0177 a0001c0001t0006g0035 a0001c0001t0006g0162 a0001c0001t0006g0181 a0001c0001t0006g0186 a0001c0001t0008g0125 a0001c0001t0008g0126 a0001c0001t0009g0003 a0001c0001t0009g0129 a0001c0001t0010g0064 a0001c0001t0010g0159 a0001c0001t0010g0182 a0001c0001t0013g0027 a0001c0001t0013g0116 a0001c0001t0014g0147 a0001c0001t0018g0004 a0001c0001t0019g0030 a0001c0001t0019g0184 a0001c0001t0020g0128 a0001c0001t0022g0070 a0001c0001t0024g0034 a0001c0001t0026g0046 a0001c0001t0030g0007 a0001c0001t0031g0117 a0001c0001t0032g0036 a0001c0001t0033g0173 a0001c0001t0037g0080 a0001c0001t0043g0142 a0001c0001t0045g0167 a0001c0001t0046g0048 a0001c0001t0047g0041 a0001c0001t0049g0039 a0001c0001t0050g0160 a0001c0002t0007g0103 a0001c0003t0002g0138 a0001c0003t0007g0104 a0001c0003t0011g0106 a0001c0003t0011g0121 a0001c0003t0012g0122 a0001c0003t0012g0179 a0001c0003t0015g0123 a0001c0003t0035g0180 a0001c0011t0014g0171 a0001c0013t0029g0021 a0003c0010t0002g0009	104	131	0.7939	-13	c.799 others(30): Show c.799+8093_799+8105delTTTTTTTTTTTTT		SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA6_chr17_11236213_11569063	11274529	ACCAGGAG others(6): Show ACCAGGAGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01109.hp1 HG02055.hp2 others(13): Show HG01106.hp1 HG01109.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03209.hp1 HG03540.hp1 HG03540.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0022 a0001c0001t0028 a0001c0001t0038 a0001c0001t0042 a0001c0003t0002 a0001c0003t0007 a0001c0003t0012 a0001c0004t0016	a0001c0001t0001g0069 a0001c0001t0001g0144 a0001c0001t0001g0151 others(13): Show a0001c0001t0001g0069 a0001c0001t0001g0144 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0004g0014 a0001c0001t0004g0112 a0001c0001t0007g0072 a0001c0001t0013g0017 a0001c0001t0022g0070 a0001c0001t0028g0143 a0001c0001t0038g0141 a0001c0001t0042g0071 a0001c0003t0002g0138 a0001c0003t0007g0104 a0001c0003t0012g0110 a0001c0004t0016g0102	16	190	0.0842	-13	c.799 others(32): Show c.799+11006_799+11018delAGGAGGGAGAGCC		SHISA6	ENSG00000188803.15	transcript	ENST00000441885.8	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISA7_chr19_55423740_55448300	55434698	TGTGTGTG others(6): Show TGTGTGTGGTGTGG	T T	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0067 a0001c0001t0021g0067	1	370	0.0027	-13	c.977 others(28): Show c.977-915_977-903delCCACACCACACAC		SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	3/3						chr19	TogoVar
SHISA7_chr19_55423740_55448300	55435129	GTGGTGTA others(6): Show GTGGTGTATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	370	0.0027	-13	c.977 others(30): Show c.977-1346_977-1334delTACACATACACCA		SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	3/3						chr19	TogoVar
SHISA7_chr19_55423740_55448300	55446933	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	162	0.0062	-13	c.-40 others(24): Show c.-4083_-4071delTTTTTTTTTTTTT		SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding					3634		chr19	TogoVar
SHISA9_chr16_12896598_13245416	12934992	CTGCTGAT others(6): Show CTGCTGATATGAAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00597.hp2 others(59): Show HG00099.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01255.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02071.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02647.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA19000.hp1 NA19007.hp2 NA19012.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0040 a0001c0001t0041 a0001c0001t0052 a0001c0001t0064 a0001c0001t0078 a0001c0001t0081 a0001c0001t0085 a0001c0001t0087 a0001c0001t0089 a0001c0001t0090 a0001c0001t0096 a0001c0002t0006 a0001c0002t0009 a0001c0002t0060 a0001c0003t0005 a0001c0003t0036 a0001c0004t0001 a0001c0004t0009	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0084 others(59): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0002g0011 a0001c0001t0002g0045 a0001c0001t0002g0115 a0001c0001t0002g0161 a0001c0001t0003g0029 a0001c0001t0003g0097 a0001c0001t0003g0147 a0001c0001t0003g0205 a0001c0001t0004g0006 a0001c0001t0004g0009 a0001c0001t0004g0087 a0001c0001t0004g0203 a0001c0001t0007g0126 a0001c0001t0007g0135 a0001c0001t0007g0189 a0001c0001t0008g0129 a0001c0001t0010g0131 a0001c0001t0010g0188 a0001c0001t0011g0127 a0001c0001t0011g0139 a0001c0001t0012g0145 a0001c0001t0016g0200 a0001c0001t0016g0210 a0001c0001t0017g0193 a0001c0001t0020g0187 a0001c0001t0023g0195 a0001c0001t0024g0038 a0001c0001t0026g0064 a0001c0001t0026g0146 a0001c0001t0027g0014 a0001c0001t0028g0137 a0001c0001t0029g0005 a0001c0001t0032g0062 a0001c0001t0034g0121 a0001c0001t0040g0113 a0001c0001t0041g0019 a0001c0001t0052g0100 a0001c0001t0064g0112 a0001c0001t0078g0091 a0001c0001t0081g0169 a0001c0001t0085g0167 a0001c0001t0087g0206 a0001c0001t0089g0143 a0001c0001t0090g0170 a0001c0001t0096g0103 a0001c0002t0006g0116 a0001c0002t0006g0185 a0001c0002t0009g0181 a0001c0002t0009g0184 a0001c0002t0060g0183 a0001c0003t0005g0004 a0001c0003t0036g0128 a0001c0004t0001g0071 a0001c0004t0009g0072	62	214	0.2897	-13	c.691 others(32): Show c.691+18179_691+18191delGCTGATATGAATT		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12974479	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0055 a0001c0001t0080g0055	1	98	0.0102	-13	c.691 others(32): Show c.691+57679_691+57691delTTTTTTTTTTTTT		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13073957	GTTTTTTT others(6): Show GTTTTTTTTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp1 HG01346.hp1 others(8): Show HG00438.hp2 HG01255.hp1 HG01346.hp1 HG02559.hp1 HG02818.hp2 HG03654.hp1 NA18952.hp1 NA19000.hp1 NA19012.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0001t0039 a0001c0001t0068 a0001c0001t0087 a0001c0001t0097	a0001c0001t0001g0090 a0001c0001t0002g0207 a0001c0001t0003g0034 others(8): Show a0001c0001t0001g0090 a0001c0001t0002g0207 a0001c0001t0003g0034 a0001c0001t0003g0099 a0001c0001t0004g0087 a0001c0001t0016g0200 a0001c0001t0017g0193 a0001c0001t0039g0158 a0001c0001t0068g0044 a0001c0001t0087g0206 a0001c0001t0097g0105	11	152	0.0724	-13	c.692 others(34): Show c.692-129423_692-129411delTTTTTTTTTTTGT		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13096391	GAAGCCAA others(6): Show GAAGCCAAGTGGTT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01255.hp1 HG01346.hp1 others(7): Show HG00438.hp2 HG01255.hp1 HG01346.hp1 HG02559.hp1 HG03654.hp1 NA18952.hp1 NA19000.hp1 NA19012.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0016 a0001c0001t0017 a0001c0001t0039 a0001c0001t0068 a0001c0001t0087	a0001c0001t0001g0090 a0001c0001t0002g0207 a0001c0001t0003g0034 others(7): Show a0001c0001t0001g0090 a0001c0001t0002g0207 a0001c0001t0003g0034 a0001c0001t0003g0099 a0001c0001t0004g0087 a0001c0001t0016g0200 a0001c0001t0017g0193 a0001c0001t0039g0158 a0001c0001t0068g0044 a0001c0001t0087g0206	10	214	0.0467	-13	c.692 others(34): Show c.692-107000_692-106988delGCCAAGTGGTTAA		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISAL2A_chr1_52628168_52662065	52655452	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp1 HG02615.hp2 HG02257.hp2 HG02615.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0146 a0001c0001t0001g0387 a0001c0001t0002g0074 a0001c0001t0001g0146 a0001c0001t0001g0387 a0001c0001t0002g0074	3	281	0.0107	-13	c.323 others(30): Show c.323-1323_323-1311delAAAAAAAAAAAAA		SHISAL2A	ENSG00000182183.15	transcript	ENST00000517870.2	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SHLD1_chr20_5745401_5869395	5814654	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	268	0.0037	-13	c.178 others(32): Show c.178+41622_178+41634delTTTTTTTTTTTTT		SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5860876	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG00741.hp2 others(24): Show HG00099.hp2 HG00673.hp1 HG00741.hp2 HG01257.hp1 HG02145.hp1 HG02572.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp2 HG03834.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18949.hp2 NA18968.hp2 NA18974.hp2 NA18981.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0002c0003t0004 a0002c0004t0001 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006	a0001c0001t0003g0029 a0001c0001t0003g0242 a0001c0001t0004g0056 others(24): Show a0001c0001t0003g0029 a0001c0001t0003g0242 a0001c0001t0004g0056 a0001c0001t0004g0060 a0001c0001t0004g0125 a0001c0001t0004g0306 a0001c0002t0001g0250 a0001c0002t0002g0172 a0001c0002t0002g0251 a0001c0002t0005g0010 a0001c0002t0005g0034 a0001c0002t0005g0038 a0001c0002t0005g0043 a0001c0002t0005g0119 a0001c0002t0005g0275 a0001c0002t0005g0311 a0001c0002t0006g0315 a0002c0003t0004g0267 a0002c0004t0001g0115 a0002c0004t0001g0286 a0002c0004t0001g0292 a0002c0004t0002g0222 a0002c0004t0005g0062 a0002c0004t0005g0082 a0002c0004t0005g0265 a0002c0004t0005g0308 a0002c0004t0006g0009	27	64	0.4219	-13	c.179 others(30): Show c.179-2125_179-2113delAAAAAAAAAAAAA		SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr20	TogoVar
SHLD1_chr20_5745401_5869395	5868407	GCCTCCCA others(6): Show GCCTCCCAAAGTGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02895.hp2 NA19030.hp1 others(2): Show HG02145.hp1 HG02895.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0005 a0002c0004t0005 a0001c0002t0005 a0002c0004t0005	a0001c0002t0005g0034 a0001c0002t0005g0311 a0001c0002t0005g0314 others(2): Show a0001c0002t0005g0034 a0001c0002t0005g0311 a0001c0002t0005g0314 a0001c0002t0005g0318 a0002c0004t0005g0082	5	326	0.0153	-13	c.49 others(24): Show c.4945_*4957delCCTCCCAAAGTGC		SHLD1	ENSG00000171984.15	transcript	ENST00000303142.11	protein_coding					4013		chr20	TogoVar
SHLD2_chr10_87090206_87196465	87144616	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG03704.hp1 others(1): Show HG01516.hp2 HG01517.hp2 HG03704.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 others(1): Show a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0004g0037	4	54	0.0741	-13	c.-5- others(28): Show c.-5-6718_-5-6706delTTTTTTTTTTTTT		SHLD2	ENSG00000122376.12	transcript	ENST00000298786.5	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
SHLD2_chr10_87090206_87196465	87159104	CTGATTAT others(6): Show CTGATTATACAAGA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0141 a0003c0004t0005g0141	1	338	0.0030	-13	c.163 others(30): Show c.1633+950_1633+962delTGATTATACAAGA		SHLD2	ENSG00000122376.12	transcript	ENST00000298786.5	protein_coding	4/9						chr10	TogoVar
SHLD3_chr5_65620027_65635928	65627131	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	130	0.0077	-13	c.-12 others(32): Show c.-121+2039_-121+2051delAAAAAAAAAAAAA		SHLD3	ENSG00000253251.3	transcript	ENST00000510585.3	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr5	TogoVar
SHMT1_chr17_18322873_18368550	18339049	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	43	0.0233	-13	c.814 others(28): Show c.814+981_814+993delTTTTTTTTTTTTT		SHMT1	ENSG00000176974.22	transcript	ENST00000316694.8	protein_coding	7/11						chr17	TogoVar
SHMT1_chr17_18322873_18368550	18343619	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20300.hp2 HG02055.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0193 a0002c0002t0005g0194 a0002c0002t0005g0193 a0002c0002t0005g0194	2	218	0.0092	-13	c.520 others(30): Show c.520-2819_520-2807delCTTTTTTTTTTTT		SHMT1	ENSG00000176974.22	transcript	ENST00000316694.8	protein_coding	5/11						chr17	TogoVar
SHMT1_chr17_18322873_18368550	18355050	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18942.hp1 HG03942.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0157 a0001c0001t0001g0109 a0001c0001t0001g0157	2	31	0.0645	-13	c.96+ others(26): Show c.96+823_96+835delTTTTTTTTTTTTT		SHMT1	ENSG00000176974.22	transcript	ENST00000316694.8	protein_coding	2/11						chr17	TogoVar
SHOC2_chr10_110914604_111018665	110940910	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03225.hp1 NA19030.hp2 others(1): Show HG03139.hp1 HG03225.hp1 NA19030.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0001 a0001c0001t0003 a0001c0001t0014	a0001c0001t0001g0154 a0001c0001t0001g0225 a0001c0001t0003g0226 others(1): Show a0001c0001t0001g0154 a0001c0001t0001g0225 a0001c0001t0003g0226 a0001c0001t0014g0163	4	5	0.8000	-13	c.-23 others(34): Show c.-235+21279_-235+21291delTTTTTTTTTTTTT		SHOC2	ENSG00000108061.13	transcript	ENST00000369452.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
SHOC2_chr10_110914604_111018665	110969890	TATGAGAA others(6): Show TATGAGAAATAATA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0163 a0001c0001t0014g0163	1	384	0.0026	-13	c.703 others(30): Show c.703+4845_703+4857delGAGAAATAATAAT		SHOC2	ENSG00000108061.13	transcript	ENST00000369452.9	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr10	TogoVar
SHOX2_chr3_158090905_158111420	158105029	GCCGCCCC others(6): Show GCCGCCCCCCCCCC	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18943.hp1 NA18961.hp1 others(2): Show HG00544.hp2 NA18943.hp1 NA18961.hp1 NA18984.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0001g0049	5	378	0.0132	-13	c.346 others(28): Show c.346+637_346+649delGGGGGGGGGGCGG		SHOX2	ENSG00000168779.21	transcript	ENST00000483851.7	protein_coding	1/4						chr3	TogoVar
SHOX_chrX_625791_656584	645390	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01884.hp1 HG02004.hp2 HG01884.hp1 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0059 a0001c0001t0001 a0001c0001t0059	a0001c0001t0001g0021 a0001c0001t0059g0087 a0001c0001t0001g0021 a0001c0001t0059g0087	2	54	0.0370	-13	c.77 others(22): Show c.775_*787delTTTTTTTTTTTTT		SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding	5/5				775	INFO_REALIGN_3_PRIME	chrX	TogoVar
SHPK_chr17_3603240_3641250	3638226	GTTTTTTT others(6): Show GTTTTTTTTTTGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(113): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00544.hp1 HG00597.hp2 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18965.hp1 NA18974.hp2 NA18984.hp2 NA18988.hp2 NA18997.hp2 NA18999.hp1 NA19002.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19066.hp1 NA19074.hp2 NA19077.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0012	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0007c0012 a0012c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0021 a0003c0003t0004 a0007c0012t0001 a0012c0013t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(106): Show a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0211 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0002g0273 a0001c0001t0003g0189 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0245 a0001c0001t0003g0271 a0001c0001t0003g0283 a0001c0001t0003g0292 a0001c0001t0003g0338 a0001c0001t0004g0003 a0001c0001t0004g0216 a0001c0001t0004g0227 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0261 a0001c0001t0005g0262 a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0269 a0001c0001t0005g0289 a0001c0001t0005g0290 a0001c0001t0005g0306 a0001c0001t0005g0315 a0001c0001t0005g0340 a0001c0001t0006g0225 a0001c0001t0008g0260 a0001c0001t0008g0307 a0001c0001t0011g0299 a0001c0001t0011g0318 a0001c0001t0011g0319 a0001c0001t0011g0320 a0001c0001t0013g0207 a0001c0001t0013g0208 a0001c0001t0013g0223 a0001c0001t0014g0209 a0001c0001t0016g0311 a0001c0001t0023g0121 a0001c0001t0024g0224 a0001c0001t0026g0274 a0001c0001t0027g0341 a0001c0001t0029g0312 a0002c0002t0002g0276 a0002c0002t0003g0019 a0002c0002t0003g0206 a0002c0002t0003g0217 a0002c0002t0003g0321 a0002c0002t0003g0322 a0002c0002t0003g0323 a0002c0002t0003g0330 a0002c0002t0003g0334 a0002c0002t0006g0337 a0002c0002t0021g0268 a0003c0003t0004g0011 a0003c0003t0004g0190 a0007c0012t0001g0303 a0012c0013t0001g0266	116	368	0.3152	-13	c.-20 others(24): Show c.-2020_-2008delAACAAAAAAAAAA		SHPK	ENSG00000197417.9	transcript	ENST00000225519.5	protein_coding					1977		chr17	TogoVar
SHPRH_chr6_145879807_145969358	145932480	AACACTAT others(6): Show AACACTATAACTTT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01257.hp1 HG01255.hp2 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0200 a0001c0002t0002g0214 a0001c0002t0002g0200 a0001c0002t0002g0214	2	352	0.0057	-13	c.311 others(30): Show c.3112+564_3112+576delAAAGTTATAGTGT		SHPRH	ENSG00000146414.17	transcript	ENST00000275233.12	protein_coding	14/29						chr6	TogoVar
SHQ1_chr3_72744277_72853445	72748329	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0053 a0010c0011t0001g0053	1	63	0.0159	-13	c.19 others(24): Show c.1942_*1954delTTTTTTTTTTTTT		SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding					947		chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9799157	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 NA18962.hp1 HG01516.hp2 NA18962.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0007c0015 a0001c0003 a0007c0015	a0001c0003t0001 a0007c0015t0003 a0001c0003t0001 a0007c0015t0003	a0001c0003t0001g0131 a0007c0015t0003g0189 a0001c0003t0001g0131 a0007c0015t0003g0189	2	69	0.0290	-13	c.165 others(32): Show c.165+12463_165+12475delTTTTTTTTTTTTT		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9823106	TCCTTCTC others(6): Show TCCTTCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0235 a0001c0003t0001g0235	1	230	0.0043	-13	c.165 others(32): Show c.165+36424_165+36436delCTTCTCCTTCTCC		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9830584	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0002 a0004c0016t0002	a0004c0016t0002g0230 a0004c0016t0002g0230	1	15	0.0667	-13	c.166 others(32): Show c.166-43046_166-43034delTTTTTTTTTTTTT		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM2_chrX_9781429_9954443	9950802	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0035 a0035	a0035c0033 a0035c0033	a0035c0033t0002 a0035c0033t0002	a0035c0033t0002g0006 a0035c0033t0002g0006	1	29	0.0345	-13	c.38 others(24): Show c.3866_*3878delTTTTTTTTTTTTT		SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding					1360		chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76746814	TATTATTA others(6): Show TATTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0150 a0003c0002t0001g0150	1	216	0.0046	-13	c.375 others(32): Show c.3754-2202_3754-2190delATTATTATTATTA		SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	5/10						chr4	TogoVar
SHTN1_chr10_116876477_117010187	116924746	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00438.hp2 others(123): Show HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02615.hp2 HG02622.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18975.hp2 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp2 NA19074.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0044 a0001c0001t0046 a0001c0001t0049 a0001c0001t0051 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0001t0065 a0002c0004t0005	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0135 others(121): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0135 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0203 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0243 a0001c0001t0003g0254 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0156 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0265 a0001c0001t0004g0271 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0005g0191 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0204 a0001c0001t0005g0248 a0001c0001t0007g0166 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0007g0220 a0001c0001t0007g0224 a0001c0001t0007g0234 a0001c0001t0007g0241 a0001c0001t0008g0007 a0001c0001t0008g0164 a0001c0001t0008g0189 a0001c0001t0008g0230 a0001c0001t0008g0232 a0001c0001t0008g0246 a0001c0001t0010g0165 a0001c0001t0010g0170 a0001c0001t0010g0179 a0001c0001t0010g0218 a0001c0001t0010g0255 a0001c0001t0012g0081 a0001c0001t0013g0173 a0001c0001t0013g0174 a0001c0001t0013g0175 a0001c0001t0013g0176 a0001c0001t0017g0182 a0001c0001t0017g0183 a0001c0001t0017g0184 a0001c0001t0017g0186 a0001c0001t0022g0187 a0001c0001t0022g0188 a0001c0001t0029g0237 a0001c0001t0029g0238 a0001c0001t0030g0250 a0001c0001t0030g0251 a0001c0001t0031g0185 a0001c0001t0031g0214 a0001c0001t0032g0008 a0001c0001t0034g0157 a0001c0001t0034g0161 a0001c0001t0044g0012 a0001c0001t0046g0217 a0001c0001t0049g0222 a0001c0001t0051g0239 a0001c0001t0057g0268 a0001c0001t0059g0277 a0001c0001t0060g0256 a0001c0001t0062g0155 a0001c0001t0065g0162 a0002c0004t0005g0278	126	142	0.8873	-13	c.111 others(32): Show c.1112+3033_1112+3045delAAAAAAAAAAAAA		SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	11/16						chr10	TogoVar
SHTN1_chr10_116876477_117010187	116953611	GTTTTGTG others(6): Show GTTTTGTGTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0015 a0001c0001t0068g0015	1	290	0.0034	-13	c.436 others(28): Show c.436+418_436+430delACAAAACACAAAA		SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	5/16						chr10	TogoVar
SHTN1_chr10_116876477_117010187	116963035	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02132.hp1 NA19058.hp2 others(1): Show HG02129.hp2 HG02132.hp1 NA19058.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0098 a0001c0001t0005g0196 a0001c0001t0005g0201 others(1): Show a0001c0001t0001g0098 a0001c0001t0005g0196 a0001c0001t0005g0201 a0001c0001t0005g0204	4	7	0.5714	-13	c.173 others(30): Show c.173-2818_173-2806delAAAAAAAAAAAAA		SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16						chr10	TogoVar
SIAE_chr11_124628113_124678739	124643922	CACCCAGC others(6): Show CACCCAGCCTTATT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03491.hp2 HG03492.hp1 others(1): Show HG03490.hp2 HG03491.hp2 HG03492.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0106 a0001c0001t0001g0008 a0001c0001t0001g0106	4	288	0.0139	-13	c.966 others(30): Show c.966+3430_966+3442delAATAAGGCTGGGT		SIAE	ENSG00000110013.13	transcript	ENST00000263593.8	protein_coding	7/9						chr11	TogoVar
SIDT1_chr3_113527555_113634575	113615213	AGAGGCTC others(6): Show AGAGGCTCAGAGGG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0030 a0011c0020t0001g0030	1	316	0.0032	-13	c.196 others(30): Show c.1967-880_1967-868delCAGAGGGGAGGCT		SIDT1	ENSG00000072858.11	transcript	ENST00000264852.9	protein_coding	19/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
SIDT1_chr3_113527555_113634575	113622463	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA19086.hp1 NA18974.hp2 NA19086.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0275 a0001c0004t0001g0276 a0001c0004t0001g0275 a0001c0004t0001g0276	2	161	0.0124	-13	c.209 others(30): Show c.2091-950_2091-938delAAAAAAAAAAAAA		SIDT1	ENSG00000072858.11	transcript	ENST00000264852.9	protein_coding	21/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
SIDT2_chr11_117173743_117202442	117195085	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18975.hp1 HG01261.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0075 a0001c0001t0014g0206 a0001c0001t0001g0075 a0001c0001t0014g0206	2	90	0.0222	-13	c.232 others(30): Show c.2323-700_2323-688delAAAAAAAAAAAAA		SIDT2	ENSG00000149577.17	transcript	ENST00000324225.9	protein_coding	24/25					INFO_REALIGN_3_PRIME	chr11	TogoVar
SIGIRR_chr11_400716_419999	400959	ACACCCGC others(6): Show ACACCCGCCCCGCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0082 a0003c0005t0001g0082	1	236	0.0042	-13	c.49 others(24): Show c.4924_*4936delAGCGGGGCGGGTG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4756		chr11	TogoVar
SIGIRR_chr11_400716_419999	401292	CCCGCTCA others(6): Show CCCGCTCACACCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	239	0.0042	-13	c.45 others(24): Show c.4591_*4603delCGGGTGTGAGCGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					4423		chr11	TogoVar
SIGIRR_chr11_400716_419999	403007	CCCGCTCA others(6): Show CCCGCTCACCCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	240	0.0042	-13	c.28 others(24): Show c.2876_*2888delTCGGGGTGAGCGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					2708		chr11	TogoVar
SIGIRR_chr11_400716_419999	403015	CCCCGACC others(6): Show CCCCGACCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02071.hp2 HG02615.hp1 others(1): Show HG01243.hp2 HG02071.hp2 HG02615.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0105 a0001c0001t0001g0141 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0105 a0001c0001t0001g0141 a0001c0001t0001g0148	4	155	0.0258	-13	c.28 others(24): Show c.2868_*2880delTGAGCGGGTCGGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					2700		chr11	TogoVar
SIGIRR_chr11_400716_419999	403021	CCCGCTCA others(6): Show CCCGCTCACCCCGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0188 a0004c0014t0001g0188	1	239	0.0042	-13	c.28 others(24): Show c.2862_*2874delTCGGGGTGAGCGG		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					2694		chr11	TogoVar
SIGLEC15_chr18_45820675_45849094	45847081	GAGACATA others(6): Show GAGACATACCCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0118 a0002c0002t0004g0118	1	412	0.0024	-13	c.48 others(24): Show c.4895_*4907delAGACATACCCCAC		SIGLEC15	ENSG00000197046.12	transcript	ENST00000389474.8	protein_coding					2988		chr18	TogoVar

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