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
SLC3A1_chr2_44270480_44326494	44286584	GTGAGCTG others(39): Show GTGAGCTGTGCGGTGTCTGTGACGGTGAGCTGTGCGGTGTCTGTGAC	G G	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0147 a0002c0001t0001g0147	1	354	0.0028	-46	c.891 others(61): Show c.891+438_891+483delGGTGTCTGTGACGGTGAGCTGTGCGGTGTC TGTGACTGAGCTGTGC		SLC3A1	ENSG00000138079.14	transcript	ENST00000260649.11	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC45A4_chr8_141202174_141313288	141202216	CGGCGGGG others(39): Show CGGCGGGGGCTGACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19066.hp2 homoSapiens_chm13v2.hp1 NA19057.hp2 NA19066.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0018 a0001c0004t0006 a0001c0004t0018	a0001c0004t0006g0091 a0001c0004t0006g0099 a0001c0004t0018g0186 a0001c0004t0006g0091 a0001c0004t0006g0099 a0001c0004t0018g0186	3	188	0.0160	-46	c.93 others(57): Show c.9310_*9355delAGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG TCAGCCCCCGCC		SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding					4957		chr8	TogoVar
SLC5A12_chr11_26662020_26727060	26680283	TTATATAT others(39): Show TTATATATATGTATATATATTCATATATATATATGTATATATATTCA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0021 a0002c0010t0021	a0002c0010t0021g0084 a0002c0010t0021g0084	1	412	0.0024	-46	c.147 others(63): Show c.1475+726_1475+771delTGAATATATATACATATATATATATGAA TATATATACATATATATA		SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	12/14						chr11	TogoVar
SLC5A4_chr22_32213464_32260347	32238185	AAAACAGC others(39): Show AAAACAGCTTACATGGACTCTCCCTCTCTGTCTTTAAAAGCCTCTCC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0090 a0003c0006t0001g0090	1	302	0.0033	-46	c.583 others(61): Show c.583+754_583+799delGGAGAGGCTTTTAAAGACAGAGAGGGAGAG TCCATGTAAGCTGTTT		SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding	6/14						chr22	TogoVar
SLC6A15_chr12_84854491_84917799	84900886	GTGTATAT others(39): Show GTGTATATATGTGTATAGATATGTATATATATACATACATATATACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(130): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02155.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18973.hp2 NA18986.hp1 NA18991.hp2 NA18993.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19063.hp2 NA19078.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0003c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0002t0004 a0001c0007t0003 a0001c0008t0002 a0003c0004t0005 a0004c0006t0016	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 others(119): Show a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0141 a0001c0001t0001g0147 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0199 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0054 a0001c0001t0003g0130 a0001c0001t0003g0136 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0004g0151 a0001c0001t0004g0198 a0001c0001t0006g0137 a0001c0001t0006g0138 a0001c0001t0006g0139 a0001c0001t0006g0140 a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0001t0007g0170 a0001c0001t0007g0175 a0001c0001t0008g0053 a0001c0001t0008g0131 a0001c0001t0010g0174 a0001c0001t0011g0146 a0001c0001t0012g0150 a0001c0001t0013g0152 a0001c0001t0022g0132 a0001c0001t0024g0205 a0001c0001t0025g0206 a0001c0002t0004g0185 a0001c0002t0004g0186 a0001c0002t0004g0187 a0001c0002t0004g0188 a0001c0002t0004g0189 a0001c0002t0004g0190 a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0194 a0001c0002t0004g0195 a0001c0002t0004g0196 a0001c0002t0004g0197 a0001c0007t0003g0159 a0001c0008t0002g0123 a0003c0004t0005g0013 a0003c0004t0005g0014 a0003c0004t0005g0015 a0004c0006t0016g0096	133	218	0.6101	-46	c.-18 others(65): Show c.-188-8624_-188-8579delTGTATATATGTATGTATATATATACA TATCTATACACATATATACA		SLC6A15	ENSG00000072041.18	transcript	ENST00000266682.10	protein_coding	1/11						chr12	TogoVar
SLC7A6_chr16_68259526_68306819	68278938	CGCCCCCC others(39): Show CGCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGGGGCT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0184 a0001c0001t0014g0184	1	282	0.0036	-46	c.523 others(63): Show c.523+3707_523+3752delCGGACAGGGCGGCTGGCCGGGCAGGGGC TGCCCCCCACCTCCCTCC		SLC7A6	ENSG00000103064.15	transcript	ENST00000219343.11	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC9A3_chr5_465456_529449	467396	GGAGGGCG others(39): Show GGAGGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02083.hp2 HG02523.hp1 others(5): Show HG02056.hp1 HG02083.hp2 HG02523.hp1 NA18945.hp1 NA18951.hp1 NA18954.hp1 NA18973.hp1 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0020	a0001c0001t0001g0080 a0002c0002t0002g0049 a0002c0002t0002g0145 others(5): Show a0001c0001t0001g0080 a0002c0002t0002g0049 a0002c0002t0002g0145 a0002c0002t0003g0186 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0197 a0002c0002t0020g0115	8	218	0.0367	-46	c.59 others(57): Show c.5937_*5982delTAGGCTGAGGGGATGTCAGACAGGAGGGGACCAG GAGGGCGCCCTC		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding					3059		chr5	TogoVar
SLC9A3_chr5_465456_529449	467466	CTGTCTGA others(39): Show CTGTCTGACATCCCCTCAGCCTAGAGGGTGCCTTCCTGATCCCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01071.hp2 others(5): Show HG00323.hp2 HG00735.hp2 HG01071.hp2 HG01074.hp1 HG01243.hp1 HG03688.hp2 HG04115.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0009 others(1): Show a0001c0003 a0001c0008 a0001c0009 a0001c0033	a0001c0003t0008 a0001c0008t0012 a0001c0009t0008 others(1): Show a0001c0003t0008 a0001c0008t0012 a0001c0009t0008 a0001c0033t0008	a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0008g0112 others(5): Show a0001c0003t0008g0038 a0001c0003t0008g0039 a0001c0003t0008g0112 a0001c0003t0008g0118 a0001c0003t0008g0152 a0001c0008t0012g0176 a0001c0009t0008g0151 a0001c0033t0008g0150	8	218	0.0367	-46	c.58 others(57): Show c.5867_*5912delTGAGGGGATCAGGAAGGCACCCTCTAGGCTGAGG GGATGTCAGACA		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding					2989		chr5	TogoVar
SLC9A3_chr5_465456_529449	467856	AGAGGGCG others(39): Show AGAGGGCGCCCTCCTGATCCCCTCATGTCTGACATCCCCTCAGCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0151 a0001c0009t0008g0151	1	218	0.0046	-46	c.54 others(57): Show c.5477_*5522delCAGGCTGAGGGGATGTCAGACATGAGGGGATCAG GAGGGCGCCCTC		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding					2599		chr5	TogoVar
SLC9A3_chr5_465456_529449	467928	ATCTGACA others(39): Show ATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01167.hp2 HG01169.hp1 others(2): Show HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01993.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0026 a0002c0006t0006 a0002c0006t0026	a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 others(1): Show a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 a0002c0006t0026g0047	5	218	0.0229	-46	c.54 others(57): Show c.5405_*5450delCAGGAGGGGACCAGGAGGGCGCCCTCCAGGCTGA GGGGATGTCAGA		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding					2527		chr5	TogoVar
SLC9A3_chr5_465456_529449	468158	GTCTGACA others(39): Show GTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG01099.hp2 others(13): Show HG00099.hp1 HG00323.hp2 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01257.hp2 HG01361.hp2 HG01993.hp1 HG02109.hp2 HG02145.hp1 HG02451.hp1 HG02559.hp2 HG04115.hp1 NA18943.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0002c0002 others(3): Show a0001c0003 a0001c0009 a0002c0002 a0002c0004 a0002c0005 a0002c0006	a0001c0003t0008 a0001c0009t0008 a0002c0002t0002 others(6): Show a0001c0003t0008 a0001c0009t0008 a0002c0002t0002 a0002c0004t0006 a0002c0004t0015 a0002c0004t0025 a0002c0005t0006 a0002c0006t0006 a0002c0006t0026	a0001c0003t0008g0118 a0001c0009t0008g0151 a0002c0002t0002g0020 others(12): Show a0001c0003t0008g0118 a0001c0009t0008g0151 a0002c0002t0002g0020 a0002c0004t0006g0173 a0002c0004t0006g0209 a0002c0004t0015g0037 a0002c0004t0015g0133 a0002c0004t0025g0143 a0002c0005t0006g0213 a0002c0005t0006g0214 a0002c0005t0006g0215 a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 a0002c0006t0026g0047	16	218	0.0734	-46	c.51 others(57): Show c.5175_*5220delTACGAGGGGACCAGGAGGGCGCCCTCCAGGCTGA GGGGATGTCAGA		SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding					2297		chr5	TogoVar
SLC9A6_chrX_135980435_136052269	136023163	GTATATAT others(39): Show GTATATATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01255.hp1 HG01256.hp1 HG01106.hp1 HG01255.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0125 a0001c0001t0001g0160 a0001c0001t0001g0077 a0001c0001t0001g0125 a0001c0001t0001g0160	3	199	0.0151	-46	c.130 others(63): Show c.1306+481_1306+526delTATATATATATATATATATATATATATA TATATATATATATATATA		SLC9A6	ENSG00000198689.13	transcript	ENST00000630721.3	protein_coding	12/17					INFO_REALIGN_3_PRIME	chrX	TogoVar
SLC9A9_chr3_143260222_143853468	143705000	TATCTATC others(39): Show TATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATATAG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG01496.hp2 others(9): Show HG01109.hp2 HG01255.hp2 HG01496.hp2 HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02717.hp1 HG02886.hp1 HG02897.hp1 HG02970.hp1 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0014	a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 others(9): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0009 a0001c0005t0012 a0001c0014t0001	a0001c0001t0004g0033 a0001c0001t0005g0090 a0001c0001t0013g0032 others(9): Show a0001c0001t0004g0033 a0001c0001t0005g0090 a0001c0001t0013g0032 a0001c0001t0015g0105 a0001c0001t0016g0081 a0001c0002t0003g0088 a0001c0002t0004g0086 a0001c0002t0005g0013 a0001c0002t0006g0102 a0001c0002t0009g0070 a0001c0005t0012g0097 a0001c0014t0001g0073	12	108	0.1111	-46	c.534 others(65): Show c.534-11739_534-11694delCTATATAGATAGATAGATAGATAGAT AGATAGATAGATAGATAGAT		SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	4/15						chr3	TogoVar
SLCO6A1_chr5_102366774_102504001	102460899	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00408.hp1 others(224): Show HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02080.hp1 HG02129.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19081.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19091.hp2 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0002c0003 others(8): Show a0001c0001 a0001c0002 a0002c0003 a0002c0014 a0003c0004 a0004c0005 a0006c0007 a0007c0009 a0008c0008 a0009c0015 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0002c0003t0001 a0002c0003t0005 a0002c0014t0001 a0003c0004t0001 a0003c0004t0003 a0004c0005t0001 a0006c0007t0001 a0007c0009t0002 a0008c0008t0002 a0009c0015t0002 a0010c0012t0002	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 others(222): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0002t0002g0003 a0001c0002t0002g0015 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0064 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0110 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0301 a0001c0002t0002g0302 a0001c0002t0002g0303 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0002c0003t0001g0001 a0002c0003t0001g0021 a0002c0003t0001g0022 a0002c0003t0001g0023 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0027 a0002c0003t0001g0028 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0031 a0002c0003t0001g0032 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0094 a0002c0003t0001g0095 a0002c0003t0001g0096 a0002c0003t0001g0097 a0002c0003t0001g0100 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0123 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0131 a0002c0003t0001g0132 a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 a0002c0003t0001g0136 a0002c0003t0001g0137 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0140 a0002c0003t0001g0141 a0002c0003t0001g0142 a0002c0003t0001g0143 a0002c0003t0001g0144 a0002c0003t0001g0145 a0002c0003t0001g0146 a0002c0003t0001g0147 a0002c0003t0001g0148 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0151 a0002c0003t0001g0152 a0002c0003t0001g0153 a0002c0003t0001g0154 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0159 a0002c0003t0001g0160 a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 a0002c0003t0001g0164 a0002c0003t0001g0165 a0002c0003t0001g0166 a0002c0003t0001g0254 a0002c0003t0001g0257 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0005g0004 a0002c0014t0001g0063 a0003c0004t0001g0007 a0003c0004t0003g0316 a0003c0004t0003g0317 a0003c0004t0003g0318 a0003c0004t0003g0319 a0003c0004t0003g0320 a0003c0004t0003g0321 a0003c0004t0003g0322 a0003c0004t0003g0323 a0003c0004t0003g0324 a0003c0004t0003g0325 a0003c0004t0003g0326 a0003c0004t0003g0327 a0003c0004t0003g0328 a0003c0004t0003g0329 a0003c0004t0003g0330 a0003c0004t0003g0331 a0003c0004t0003g0332 a0003c0004t0003g0333 a0003c0004t0003g0334 a0003c0004t0003g0335 a0003c0004t0003g0336 a0004c0005t0001g0008 a0004c0005t0001g0009 a0004c0005t0001g0010 a0004c0005t0001g0011 a0004c0005t0001g0012 a0006c0007t0001g0256 a0006c0007t0001g0261 a0007c0009t0002g0109 a0007c0009t0002g0113 a0008c0008t0002g0111 a0008c0008t0002g0112 a0009c0015t0002g0081 a0010c0012t0002g0042	227	342	0.6637	-46	c.900 others(63): Show c.900-1168_900-1123delATATATATATATATATATATATATATAT ATATATATATATATATAT		SLCO6A1	ENSG00000205359.10	transcript	ENST00000506729.6	protein_coding	4/13						chr5	TogoVar
SLF1_chr5_94613669_94702621	94656292	GTACACTT others(39): Show GTACACTTGATCATAGTGTATTGACTATGACAATACACTATGATCAA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0023 a0006c0013t0023	a0006c0013t0023g0269 a0006c0013t0023g0269	1	364	0.0028	-46	c.115 others(65): Show c.1155+1560_1155+1605delTTGACTATGACAATACACTATGATCA ATACACTTGATCATAGTGTA		SLF1	ENSG00000133302.13	transcript	ENST00000265140.10	protein_coding	9/20					INFO_REALIGN_3_PRIME	chr5	TogoVar
SLIT2_chr4_20246905_20625561	20291462	ATATATAT others(39): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02572.hp2 NA20300.hp1 HG01106.hp2 HG02572.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0027 a0001c0002t0059 a0001c0006t0025 a0001c0001t0027 a0001c0002t0059 a0001c0006t0025	a0001c0001t0027g0033 a0001c0002t0059g0025 a0001c0006t0025g0027 a0001c0001t0027g0033 a0001c0002t0059g0025 a0001c0006t0025g0027	3	230	0.0130	-46	c.395 others(65): Show c.395+22583_395+22628delATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTT		SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLIT2_chr4_20246905_20625561	20291464	ATATATAT others(39): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0025 a0001c0006t0025	a0001c0006t0025g0026 a0001c0006t0025g0026	1	230	0.0044	-46	c.395 others(65): Show c.395+22585_395+22630delATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTT		SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	4/36					INFO_REALIGN_3_PRIME	chr4	TogoVar
SLITRK5_chr13_87666371_87684616	87679849	ATATATAG others(39): Show ATATATAGTATATATGTATATATATAGTATATATAGTATATATATAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	404	0.0025	-46	c.15 others(57): Show c.1585_*1630delTATATAGTATATATGTATATATATAGTATATATA GTATATATATAG		SLITRK5	ENSG00000165300.8	transcript	ENST00000683689.1	protein_coding					234		chr13	TogoVar
SMIM14_chr4_39541336_39643865	39619458	ATATCAAT others(39): Show ATATCAATAAATATAATTTATTCTATATCAATAAATATAATTTATTC	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0237 a0001c0001t0030g0237	1	344	0.0029	-46	c.-35 others(65): Show c.-35-14324_-35-14279delGAATAAATTATATTTATTGATATAGA ATAAATTATATTTATTGATA		SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4						chr4	TogoVar
SMIM14_chr4_39541336_39643865	39619482	ATATCAAT others(39): Show ATATCAATAAATATAATTTATTCTATATCAATAAATATAATTTATTC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01943.hp1 HG02258.hp2 others(4): Show HG00738.hp2 HG01943.hp1 HG02258.hp2 HG02280.hp1 HG02572.hp1 HG03041.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0045	a0001c0001t0001g0046 a0001c0001t0001g0119 a0001c0001t0004g0093 others(4): Show a0001c0001t0001g0046 a0001c0001t0001g0119 a0001c0001t0004g0093 a0001c0001t0008g0047 a0001c0001t0008g0079 a0001c0001t0008g0227 a0001c0001t0045g0319	7	344	0.0204	-46	c.-35 others(65): Show c.-35-14348_-35-14303delGAATAAATTATATTTATTGATATAGA ATAAATTATATTTATTGATA		SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4						chr4	TogoVar
SMIM44_chr19_3477110_3488441	3487354	GCTCAGGC others(39): Show GCTCAGGCAGCCAATGTCACATTGGAAGGTGCCACCTTGGAAGTGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	400	0.0025	-46	c.-39 others(57): Show c.-3997_-3952delGCCACTTCCAAGGTGGCACCTTCCAATGTGACAT TGGCTGCCTGAG		SMIM44	ENSG00000284638.2	transcript	ENST00000641816.2	protein_coding					3914		chr19	TogoVar
SMLR1_chr6_130822406_130842135	130832797	GAGTCCTC others(39): Show GAGTCCTCAGTAGGGGTTCTATCTGTTGAGTCCTTTTGGTCCAGACA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0046 a0002c0002t0016g0046	1	440	0.0023	-46	c.239 others(63): Show c.239-2072_239-2027delAGTCCTCAGTAGGGGTTCTATCTGTTGA GTCCTTTTGGTCCAGACA		SMLR1	ENSG00000256162.2	transcript	ENST00000541421.2	protein_coding	1/1						chr6	TogoVar
SMPD1_chr11_6385474_6399996	6390305	GCCCGGGG others(39): Show GCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAATCGGGGCGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	388	0.0026	-46	c.-29 others(55): Show c.-293_-248delCCCGGGGCAGGGCGGGGGCAGGGAGAGGGGGCGGAA TCGGGGCGGT		SMPD1	ENSG00000166311.10	transcript	ENST00000342245.9	protein_coding					168		chr11	TogoVar
SMYD3_chr1_245744347_246512279	246478730	CACACCTG others(39): Show CACACCTGTCCTCCATCTGGAGCTGGTACGTAAGTGCTCATATATGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0022 a0001c0006t0001g0022	1	150	0.0067	-46	c.164 others(65): Show c.164+28278_164+28323delACATATATGAGCACTTACGTACCAGC TCCAGATGGAGGACAGGTGT		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
SNAPC4_chr9_136370571_136405170	136403370	GGGGGAGA others(39): Show GGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01123.hp1 HG01361.hp1 others(12): Show HG01081.hp1 HG01123.hp1 HG01361.hp1 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02273.hp1 HG02300.hp2 HG02895.hp1 HG02897.hp2 HG03239.hp2 HG04115.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0007	a0001c0004 a0001c0026 a0002c0002 others(3): Show a0001c0004 a0001c0026 a0002c0002 a0003c0003 a0005c0008 a0007c0011	a0001c0004t0001 a0001c0026t0001 a0002c0002t0002 others(3): Show a0001c0004t0001 a0001c0026t0001 a0002c0002t0002 a0003c0003t0002 a0005c0008t0001 a0007c0011t0003	a0001c0004t0001g0012 a0001c0026t0001g0201 a0002c0002t0002g0021 others(8): Show a0001c0004t0001g0012 a0001c0026t0001g0201 a0002c0002t0002g0021 a0002c0002t0002g0247 a0003c0003t0002g0019 a0003c0003t0002g0197 a0003c0003t0002g0224 a0005c0008t0001g0016 a0007c0011t0003g0042 a0007c0011t0003g0171 a0007c0011t0003g0227	15	380	0.0395	-46	c.-32 others(57): Show c.-3292_-3247delGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGT CCCTTTCTCCCC		SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding					3201		chr9	TogoVar
SNPH_chr20_1261294_1314327	1278050	GTGTGTGT others(39): Show GTGTGTGTGTCTGTGTGTGTATCTGTGTGTGTCTCTGTGTGTGCCTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02258.hp2 others(15): Show HG01891.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03471.hp1 HG03486.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2 NA19030.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0003t0010 a0001c0005t0026 a0001c0006t0003 a0007c0015t0003	a0001c0001t0001g0060 a0001c0001t0002g0027 a0001c0001t0002g0065 others(15): Show a0001c0001t0001g0060 a0001c0001t0002g0027 a0001c0001t0002g0065 a0001c0001t0003g0059 a0001c0001t0003g0062 a0001c0001t0003g0066 a0001c0001t0015g0032 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0005g0058 a0001c0002t0005g0063 a0001c0002t0007g0064 a0001c0003t0010g0061 a0001c0003t0010g0289 a0001c0005t0026g0029 a0001c0006t0003g0030 a0001c0006t0003g0031 a0007c0015t0003g0057	18	350	0.0514	-46	c.-49 others(67): Show c.-493+11304_-493+11349delGTGTGTATCTGTGTGTGTCTCTGT GTGTGCCTATGTGTGTGTCTGT		SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
SNRK_chr3_43281540_43356143	43339818	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0218 a0001c0007t0001g0218	1	258	0.0039	-46	c.732 others(61): Show c.732-458_732-413delATATATATATATATATATATATATATATAT ATATATATATATATAT		SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
SNTG2_chr2_945849_1372613	1005806	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01081.hp2 others(29): Show HG00140.hp1 HG00642.hp1 HG01081.hp2 HG01106.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01975.hp2 HG02015.hp1 HG02071.hp2 HG02132.hp1 HG02148.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02683.hp1 HG02738.hp1 HG03453.hp1 HG03710.hp2 HG04115.hp1 HG04184.hp1 NA18943.hp1 NA18984.hp2 NA18990.hp2 NA19030.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0015	a0001c0001 a0001c0002 a0002c0003 others(11): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0033 a0003c0007 a0003c0008 a0004c0014 a0005c0006 a0005c0015 a0006c0009 a0006c0010 a0008c0011 a0015c0025	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0005t0001 a0002c0033t0001 a0003c0007t0001 a0003c0007t0002 a0003c0008t0001 a0004c0014t0001 a0005c0006t0001 a0005c0015t0001 a0006c0009t0001 a0006c0010t0001 a0008c0011t0001 a0015c0025t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 others(29): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0125 a0001c0002t0001g0007 a0001c0002t0001g0010 a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0002g0076 a0002c0003t0001g0021 a0002c0003t0001g0026 a0002c0005t0001g0014 a0002c0005t0001g0020 a0002c0005t0001g0032 a0002c0033t0001g0119 a0003c0007t0001g0018 a0003c0007t0002g0075 a0003c0008t0001g0013 a0004c0014t0001g0036 a0005c0006t0001g0019 a0005c0015t0001g0037 a0006c0009t0001g0011 a0006c0010t0001g0012 a0008c0011t0001g0004 a0015c0025t0001g0034	32	190	0.1684	-46	c.72+ others(63): Show c.72+54762_72+54807delTATATATATATATATATATATATATATA TATATATATATATATATA		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1255839	TATAAATA others(39): Show TATAAATATATATAAATATATATAAATATATATAAATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0088 a0004c0004t0001g0088	1	190	0.0053	-46	c.100 others(65): Show c.1006-3527_1006-3482delAATATATATAAATATATATAAATATA TATAAATATATATATAAATA		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	12/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SNW1_chr14_77712599_77766156	77747675	GCCCGGCA others(39): Show GCCCGGCAGCCGCCCCGTCCAGGAGGGAGGTGCGGGGCAGCCCCCGC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	366	0.0027	-46	c.330 others(63): Show c.330+3598_330+3643delGCGGGGGCTGCCCCGCACCTCCCTCCTG GACGGGGCGGCTGCCGGG		SNW1	ENSG00000100603.14	transcript	ENST00000261531.12	protein_coding	3/13						chr14	TogoVar
SNW1_chr14_77712599_77766156	77747695	AGGAGGGA others(39): Show AGGAGGGAGGTGCGGGGCAGCCCCCGCCCCGGCAGCCGCCCCGTCTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp2 HG03471.hp2 others(3): Show HG02818.hp2 HG02922.hp2 HG03471.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0159 a0001c0001t0001g0319 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0159 a0001c0001t0001g0319 a0001c0001t0001g0320	6	366	0.0164	-46	c.330 others(63): Show c.330+3578_330+3623delCAGACGGGGCGGCTGCCGGGGCGGGGGC TGCCCCGCACCTCCCTCC		SNW1	ENSG00000100603.14	transcript	ENST00000261531.12	protein_coding	3/13						chr14	TogoVar
SNX29_chr16_11971734_12579287	12262036	ACGTCCCC others(39): Show ACGTCCCCGGCTGGAGTGAGTGTTTGCTGAGCTCGGGTCTGTGCGCG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	176	0.0057	-46	c.167 others(67): Show c.1679-15884_1679-15839delGAGTGAGTGTTTGCTGAGCTCGGG TCTGTGCGCGCGTCCCCGGCTG		SNX29	ENSG00000048471.14	transcript	ENST00000566228.6	protein_coding	14/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
SOBP_chr6_107485117_107666306	107656324	AAAGAAAG others(39): Show AAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02738.hp2 HG02572.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0188 a0001c0001t0002g0132 a0001c0001t0002g0188	2	296	0.0068	-46	c.4- others(61): Show c.4-1879_*4-1834delAAAGAAAGAAAGAAAGAGAAAGAAAGAAAG AAAGAAAGAAAGTAAG		SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
SON_chr21_33538038_33582481	33577604	TACACACA others(39): Show TACACACACACACACACACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01952.hp2 HG02040.hp1 others(3): Show HG01255.hp2 HG01952.hp2 HG02040.hp1 HG02083.hp2 HG02965.hp2 HG03927.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0017	a0001c0001 a0002c0003 a0003c0004 others(1): Show a0001c0001 a0002c0003 a0003c0004 a0017c0030	a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0003c0004t0001 a0017c0030t0001	a0001c0001t0001g0021 a0001c0001t0001g0156 a0002c0003t0001g0008 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0156 a0002c0003t0001g0008 a0003c0004t0001g0170 a0003c0004t0001g0203 a0017c0030t0001g0054	6	364	0.0165	-46	c.11 others(57): Show c.1181_*1226delACACACACACACACACACACACACACACACACAC ACACACACACAC		SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding					124		chr21	TogoVar
SORCS2_chr4_7187538_7747827	7565630	GGTGATGA others(39): Show GGTGATGATGGTGATTTTTATGGTGATGATGTGATGATGCTGATGAT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03017.hp1 HG03540.hp2 HG02647.hp1 HG03017.hp1 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0009 a0004c0044 a0001c0001 a0001c0009 a0004c0044	a0001c0001t0005 a0001c0009t0051 a0004c0044t0046 a0001c0001t0005 a0001c0009t0051 a0004c0044t0046	a0001c0001t0005g0130 a0001c0009t0051g0042 a0004c0044t0046g0016 a0001c0001t0005g0130 a0001c0009t0051g0042 a0004c0044t0046g0016	3	168	0.0179	-46	c.648 others(65): Show c.648+34016_648+34061delTTTTATGGTGATGATGTGATGATGCT GATGATGTGATGATGGTGAT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724889	TTGGTGAT others(39): Show TTGGTGATGGTGGTGATAGTATTGGTGGGAATGGATGGTGGTAGTAG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0074 a0001c0028t0074	a0001c0028t0074g0162 a0001c0028t0074g0162	1	168	0.0060	-46	c.261 others(63): Show c.2612-250_2612-205delATAGTATTGGTGGGAATGGATGGTGGTA GTAGTGGTGATGGTGGTG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX5_chr12_23524504_23954670	23726118	CGAGAGAG others(39): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0147 a0001c0001t0016g0147	1	212	0.0047	-46	c.810 others(63): Show c.810+8520_810+8565delTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTC		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	6/14						chr12	TogoVar
SOX6_chr11_15961449_16361546	16132398	GAAAAAAG others(39): Show GAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	218	0.0046	-46	c.778 others(65): Show c.778-20521_778-20476delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTTTT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar
SPAG16_chr2_213279464_214415501	213913571	ATATATAT others(39): Show ATATATATGTACATGTACATATATGTATATGTACATGTACATATATG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG03209.hp1 NA19030.hp1 HG02015.hp1 HG03209.hp1 NA19030.hp1	a0005 a0006 a0007 a0005 a0006 a0007	a0005c0005 a0006c0006 a0007c0007 a0005c0005 a0006c0006 a0007c0007	a0005c0005t0001 a0006c0006t0001 a0007c0007t0001 a0005c0005t0001 a0006c0006t0001 a0007c0007t0001	a0005c0005t0001g0017 a0006c0006t0001g0082 a0007c0007t0001g0083 a0005c0005t0001g0017 a0006c0006t0001g0082 a0007c0007t0001g0083	3	86	0.0349	-46	c.121 others(67): Show c.1215-16383_1215-16338delATGTACATGTACATATATGTATAT GTACATGTACATATATGTATAT		SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	11/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG1_chr8_100153587_100246904	100214988	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0041 a0003c0004t0001g0041	1	366	0.0027	-46	c.153 others(65): Show c.1535+1087_1535+1132delATATATATATATATATATATATATAT ATATATATATATATATATAT		SPAG1	ENSG00000104450.13	transcript	ENST00000388798.7	protein_coding	12/18					INFO_REALIGN_3_PRIME	chr8	TogoVar
SPATA31C2_chr9_88124305_88143475	88137916	ACAGAGAC others(39): Show ACAGAGACCTCCCATCTCATGACCAGAGACCTCCCCCGTCTCATGAC	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00597.hp1 others(81): Show HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG01952.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03710.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18950.hp2 NA18953.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA20905.hp2	a0001 a0003 a0009 others(6): Show a0001 a0003 a0009 a0026 a0035 a0036 a0038 a0040 a0044	a0001c0001 a0003c0004 a0009c0012 others(6): Show a0001c0001 a0003c0004 a0009c0012 a0026c0041 a0035c0045 a0036c0047 a0038c0043 a0040c0048 a0044c0049	a0001c0001t0001 a0001c0001t0005 a0003c0004t0002 others(7): Show a0001c0001t0001 a0001c0001t0005 a0003c0004t0002 a0009c0012t0002 a0026c0041t0001 a0035c0045t0001 a0036c0047t0002 a0038c0043t0001 a0040c0048t0002 a0044c0049t0002	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 others(59): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0005g0168 a0003c0004t0002g0006 a0003c0004t0002g0017 a0003c0004t0002g0018 a0003c0004t0002g0019 a0003c0004t0002g0041 a0003c0004t0002g0042 a0003c0004t0002g0043 a0003c0004t0002g0044 a0003c0004t0002g0133 a0003c0004t0002g0134 a0003c0004t0002g0137 a0003c0004t0002g0139 a0003c0004t0002g0141 a0003c0004t0002g0147 a0003c0004t0002g0149 a0003c0004t0002g0158 a0003c0004t0002g0159 a0003c0004t0002g0160 a0003c0004t0002g0163 a0003c0004t0002g0171 a0003c0004t0002g0172 a0003c0004t0002g0173 a0003c0004t0002g0174 a0003c0004t0002g0181 a0003c0004t0002g0183 a0003c0004t0002g0187 a0009c0012t0002g0015 a0009c0012t0002g0150 a0009c0012t0002g0151 a0026c0041t0001g0166 a0035c0045t0001g0135 a0036c0047t0002g0184 a0038c0043t0001g0169 a0040c0048t0002g0186 a0044c0049t0002g0175	84	446	0.1883	-46	c.189 others(61): Show c.189+296_189+341delGTCATGAGACGGGGGAGGTCTCTGGTCATG AGATGGGAGGTCTCTG		SPATA31C2	ENSG00000177910.9	transcript	ENST00000324915.6	protein_coding	1/3						chr9	TogoVar
SPATS2_chr12_49362462_49532425	49408585	TTGCTCTG others(39): Show TTGCTCTGCCGCCCAGGCTGGAGTGCAGTGGTGCAATCTTGGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01175.hp1 HG01192.hp1 others(16): Show HG00639.hp2 HG01175.hp1 HG01192.hp1 HG01361.hp2 HG01884.hp2 HG01978.hp2 HG02145.hp2 HG02451.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp2 HG02897.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp2 HG03704.hp1 HG04184.hp2 NA18906.hp2 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0002 a0001c0001 a0004c0002	a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0004c0002t0002	a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 others(16): Show a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0013g0056 a0004c0002t0002g0052	19	158	0.1203	-46	c.-24 others(67): Show c.-244+37299_-244+37344delTCTGCCGCCCAGGCTGGAGTGCAG TGGTGCAATCTTGGCTCACTGC		SPATS2	ENSG00000123352.18	transcript	ENST00000552918.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr12	TogoVar
SPDYE10_chr7_73099008_73160431	73156134	ACACACTC others(39): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	216	0.0046	-46	c.-14 others(57): Show c.-1497_-1452delAGAGAGAGAGAGACAGACAGAGAGAGAGAGAGAG AGAGAGAGTGTG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					704		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156136	ACACTCTC others(39): Show ACACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG02698.hp2 HG01169.hp2 HG02698.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0025 a0001c0006t0005 a0001c0006t0025	a0001c0006t0005g0213 a0001c0006t0025g0216 a0001c0006t0005g0213 a0001c0006t0025g0216	2	216	0.0093	-46	c.-14 others(57): Show c.-1499_-1454delAGAGAGAGAGAGAGACAGACAGAGAGAGAGAGAG AGAGAGAGAGTG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					706		chr7	TogoVar
SPDYE10_chr7_73099008_73160431	73156138	ACTCTCTC others(39): Show ACTCTCTCTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTCTCTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0055 a0002c0004t0007g0055	1	216	0.0046	-46	c.-15 others(57): Show c.-1501_-1456delAGAGAGAGAGAGAGAGACAGACAGAGAGAGAGAG AGAGAGAGAGAG		SPDYE10	ENSG00000274570.6	transcript	ENST00000691996.1	protein_coding					708		chr7	TogoVar
SPEF2_chr5_35612863_35819611	35819434	TCACCTCT others(39): Show TCACCTCTGTGATACAGTCCAACAACAAAGATACTCAAAGAGAGGTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0239 a0002c0001t0001g0239	1	268	0.0037	-46	c.48 others(57): Show c.4882_*4927delCACCTCTGTGATACAGTCCAACAACAAAGATACT CAAAGAGAGGTA		SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding					4824		chr5	TogoVar
SPIRE2_chr16_89823475_89876319	89854674	GGCAGCCT others(39): Show GGCAGCCTGGATGCAGAGGTCGTGGTGAGCGGGGCGGACGCAGATGA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0317 a0001c0024t0001g0317	1	356	0.0028	-46	c.891 others(59): Show c.891+36_891+81delCAGAGGTCGTGGTGAGCGGGGCGGACGCAGAT GAGCAGCCTGGATG		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00609.hp1 others(91): Show HG00280.hp1 HG00423.hp1 HG00609.hp1 HG00621.hp1 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03704.hp2 HG03834.hp2 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18945.hp1 NA18953.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18994.hp1 NA18995.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0066 a0001c0001t0087 a0001c0001t0088 a0001c0001t0098 a0001c0001t0102 a0001c0001t0103 a0001c0001t0105 a0001c0001t0107 a0001c0001t0109 a0001c0001t0111 a0001c0001t0112 a0001c0001t0114 a0001c0001t0116 a0001c0001t0119 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0136 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0149 a0001c0002t0028 a0001c0002t0054 a0001c0002t0139 a0001c0002t0140 a0001c0002t0141 a0001c0004t0008	a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0164 others(91): Show a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0002g0117 a0001c0001t0002g0127 a0001c0001t0002g0170 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0003g0015 a0001c0001t0004g0101 a0001c0001t0004g0145 a0001c0001t0004g0156 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0005g0161 a0001c0001t0005g0205 a0001c0001t0009g0150 a0001c0001t0009g0157 a0001c0001t0009g0165 a0001c0001t0009g0169 a0001c0001t0010g0149 a0001c0001t0011g0111 a0001c0001t0011g0148 a0001c0001t0011g0191 a0001c0001t0012g0114 a0001c0001t0014g0158 a0001c0001t0014g0160 a0001c0001t0014g0181 a0001c0001t0016g0115 a0001c0001t0016g0138 a0001c0001t0017g0116 a0001c0001t0017g0171 a0001c0001t0019g0068 a0001c0001t0022g0162 a0001c0001t0022g0224 a0001c0001t0024g0133 a0001c0001t0025g0163 a0001c0001t0025g0200 a0001c0001t0027g0172 a0001c0001t0032g0188 a0001c0001t0032g0220 a0001c0001t0033g0178 a0001c0001t0033g0219 a0001c0001t0034g0166 a0001c0001t0034g0189 a0001c0001t0035g0125 a0001c0001t0035g0187 a0001c0001t0048g0180 a0001c0001t0049g0081 a0001c0001t0050g0155 a0001c0001t0056g0153 a0001c0001t0057g0159 a0001c0001t0058g0227 a0001c0001t0059g0119 a0001c0001t0061g0143 a0001c0001t0062g0201 a0001c0001t0066g0221 a0001c0001t0087g0118 a0001c0001t0088g0185 a0001c0001t0098g0139 a0001c0001t0102g0209 a0001c0001t0103g0112 a0001c0001t0105g0147 a0001c0001t0107g0174 a0001c0001t0109g0135 a0001c0001t0111g0050 a0001c0001t0112g0213 a0001c0001t0114g0137 a0001c0001t0116g0106 a0001c0001t0119g0173 a0001c0001t0127g0144 a0001c0001t0128g0123 a0001c0001t0129g0134 a0001c0001t0132g0226 a0001c0001t0133g0168 a0001c0001t0134g0113 a0001c0001t0136g0192 a0001c0001t0142g0230 a0001c0001t0143g0202 a0001c0001t0144g0186 a0001c0001t0145g0190 a0001c0001t0146g0184 a0001c0001t0147g0179 a0001c0001t0149g0151 a0001c0002t0028g0067 a0001c0002t0054g0105 a0001c0002t0139g0212 a0001c0002t0140g0142 a0001c0002t0141g0210 a0001c0004t0008g0102	94	231	0.4069	-46	c.-28 others(67): Show c.-282+25677_-282+25722delATATATATATATATATATATATAT ATATATATATATATATATATAT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SRARP_chr1_15999236_16013807	16006244	GGGGAAAC others(39): Show GGGGAAACCCGTGAAGGCTGCGCCTGTGAGGTCTTCAACTTGGGGAA	G G	frameshift_variant frameshift_variant	HIGH	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0008 a0004c0012t0002g0008	1	400	0.0025	-46	c.409 others(53): Show c.409_454delGGGAAACCCGTGAAGGCTGCGCCTGTGAGGTCTTCAAC TTGGGGAA	p.Gly others(5): Show p.Gly137fs	SRARP	ENSG00000183888.4	transcript	ENST00000329454.2	protein_coding	2/2	477/3039	409/510	137/169			chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144883251	GCGGGCAA others(39): Show GCGGGCAAATAAGTGCGGCACCGGCGGGGGGGGTAAAAGGCCGGGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0018 a0007c0007t0018	a0007c0007t0018g0001 a0007c0007t0018g0001	1	56	0.0179	-46	c.88 others(57): Show c.8863_*8908delGACCCGGCCTTTTACCCCCCCCGCCGGTGCCGCA CTTATTTGCCCG		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding					4036		chr1	TogoVar

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