Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RPA2_chr1_27886524_27919575	27916912	C C	CCCTCCCT others(90): Show CCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTTCCT CCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTCCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	362	0.0028	97	c.-24 others(108): Show c.-2470_-2469insAAGGAAGGAGGAAGGAAGGAAGGAAGGAAGGAAG GGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAGGAAGGAAGGGAG GGAGGGAGGGAGG	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2338		chr1	TogoVar
RPH3AL_chr17_207389_357807	353612	A A	ACCCAACA others(90): Show ACCCAACAAACTGGGTTCCAAGGAGCCAGGGGTGTGGAGCCCCTCTTCAG GACCGTGCAAGCAGAAGCAGGGGGCTGGGAACAAGGGGGTTATTACAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG02074.hp1 NA18951.hp2 others(8): Show HG01943.hp1 HG02074.hp1 NA18951.hp2 NA18959.hp1 NA18963.hp1 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19056.hp1 NA19079.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0019 a0001c0001t0032 a0001c0015t0007	a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0002g0010 others(8): Show a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0002g0010 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0004g0008 a0001c0001t0011g0007 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0032g0004 a0001c0015t0007g0026	11	131	0.0840	97	c.-12 others(108): Show c.-1210_-1114dupCTGTAATAACCCCCTTGTTCCCAGCCCCCTGCTT CTGCTTGCACGGTCCTGAAGAGGGGCTCCACACCCCTGGCTCCTTGGAAC CCAGTTTGTTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		806		chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761921	T T	TTTCTTTC others(90): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCT TTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG03540.hp2 HG02647.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0008 a0001c0001t0023g0008	2	227	0.0088	97	c.-15 others(108): Show c.-1516_-1515insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTTCTTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1082		chr19	TogoVar
RPTOR_chr17_80539838_80971368	80864291	T T	TACAGATT others(90): Show TACAGATTTCCTACAGATGGAAAAGGTGAGAATGATGGCAAGTTTCTTCT CACAGATTTCCTACAGATGGAAAAGGTGAGCGTGATGGCAGGTTTCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01978.hp2 HG01109.hp1 HG01109.hp2 HG01978.hp2	a0001 a0001	a0001c0024 a0001c0073 a0001c0091 a0001c0024 a0001c0073 a0001c0091	a0001c0024t0002 a0001c0073t0002 a0001c0091t0016 a0001c0024t0002 a0001c0073t0002 a0001c0091t0016	a0001c0024t0002g0047 a0001c0073t0002g0069 a0001c0091t0016g0166 a0001c0024t0002g0047 a0001c0073t0002g0069 a0001c0091t0016g0166	3	192	0.0156	97	c.150 others(116): Show c.1509+6421_1509+6422insATGATGGCAAGTTTCTTCTCACAGAT TTCCTACAGATGGAAAAGGTGAGCGTGATGGCAGGTTTCTCACAGATTTC CTACAGATGGAAAAGGTGAGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80864291	T T	TACAGATT others(90): Show TACAGATTTCCTACAGATGGAAAAGGTGAGAATGATGGCAGGTTTCTTCT TACAGATTTCCTACAGATGGAAAAGGTGAGCGTGATGGCAGGTTTCTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0008 a0001c0019t0008	a0001c0019t0008g0037 a0001c0019t0008g0037	1	190	0.0053	97	c.150 others(116): Show c.1509+6421_1509+6422insATGATGGCAGGTTTCTTCTTACAGAT TTCCTACAGATGGAAAAGGTGAGCGTGATGGCAGGTTTCTCACAGATTTC CTACAGATGGAAAAGGTGAGA	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80963809	C C	CGTCCCCT others(90): Show CGTCCCCTGTGCGGCCCTCACCCCGTCCCCTCTGCGGCCCTCACCCCGTC CCCTGTGCGGCCCTCACCCCGTCCGCTGTGCGGCCGAGTCCTCACCCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0078 a0001c0009t0078	a0001c0009t0078g0021 a0001c0009t0078g0021	1	170	0.0059	97	c.394 others(114): Show c.3940-449_3940-448insCCTGTGCGGCCCTCACCCCGTCCCCTCT GCGGCCCTCACCCCGTCCCCTGTGCGGCCCTCACCCCGTCCGCTGTGCGG CCGAGTCCTCACCCTGTCC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	33/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RREB1_chr6_7102961_7256980	7103356	C C	CATATAAT others(90): Show CATATAATATATAATATTATATGTTAATTAACATATAATATATAATATTA TATATAATATAATATATATAATATATAATATTATATATAATATAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01167.hp1 others(7): Show HG00140.hp1 HG00741.hp1 HG01167.hp1 HG01175.hp2 HG01261.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG03942.hp2 NA21309.hp1	a0003 a0004 a0006 a0003 a0004 a0006	a0003c0002 a0004c0006 a0004c0008 others(2): Show a0003c0002 a0004c0006 a0004c0008 a0004c0068 a0006c0009	a0003c0002t0010 a0004c0006t0006 a0004c0006t0007 others(5): Show a0003c0002t0010 a0004c0006t0006 a0004c0006t0007 a0004c0008t0003 a0004c0008t0025 a0004c0008t0037 a0004c0068t0072 a0006c0009t0005	a0003c0002t0010g0251 a0004c0006t0006g0257 a0004c0006t0007g0241 others(7): Show a0003c0002t0010g0251 a0004c0006t0006g0257 a0004c0006t0007g0241 a0004c0006t0007g0245 a0004c0008t0003g0243 a0004c0008t0003g0244 a0004c0008t0025g0272 a0004c0008t0037g0264 a0004c0068t0072g0273 a0006c0009t0005g0246	10	215	0.0465	97	c.-49 others(108): Show c.-4989_-4988insATATAATATATAATATTATATGTTAATTAACATA TAATATATAATATTATATATAATATAATATATATAATATATAATATTATA TATAATATAATAT	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4604		chr6	TogoVar
RSAD1_chr17_50473860_50490974	50476182	C C	CCTGCCCC others(90): Show CCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCC TGCCCCCTTACCCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	1	209	0.0048	97	c.-27 others(108): Show c.-2703_-2702insCTGCCCCCTTACCTCGCAGCGCGCCTGCCCCCTT ACCTCCCAGCGCGCCTGCCCCCTTACCCTCCCAGCGCGCCTGCCCCCTTA CCTCGCAGCGCGG	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2677		chr17	TogoVar
RSAD1_chr17_50473860_50490974	50476185	G G	GCCCCCTT others(90): Show GCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGC CCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTCGCAGCGCGGCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	379	0.0026	97	c.-27 others(108): Show c.-2700_-2699insCCCCCTTACCTCGCAGCGCGCCTGCCCCCTTACC TCCCAGCGCGCCTGCCCCCTTACCTCCCAGCGCGCCTGCCCCCTTACCTC GCAGCGCGGCTGC	RSAD1	ENSG00000136444.10	transcript	ENST00000258955.7	protein_coding		2674		chr17	TogoVar
RTL4_chrX_112078016_112462514	112310399	T T	TATATATA others(90): Show TATATATATATATATATATATATGTAATATAATATACGTATATATAATAT AGAAATATAATATATATTTCTATATTATATATACGTATATTATATTAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0100 a0001c0002t0011g0100	1	123	0.0081	97	c.-28 others(116): Show c.-285+3895_-285+3896insATATATGTAATATAATATACGTATAT ATAATATAGAAATATAATATATATTTCTATATTATATATACGTATATTAT ATTACATATATATATATATAT	RTL4	ENSG00000187823.4	transcript	ENST00000695839.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chrX	TogoVar
RUNDC3B_chr7_87623398_87837296	87626099	T T	TTGTCATA others(90): Show TTGTCATATATATGTGTCATATATATTGTCATATATATGTGTCATATATA TGTCATATATATGTGTCATATATATGTCATATATATGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	178	0.0056	97	c.-27 others(108): Show c.-2725_-2724insTGTCATATATATGTGTCATATATATTGTCATATA TATGTGTCATATATATGTCATATATATGTGTCATATATATGTCATATATA TGTGTCATATATA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		2298		chr7	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(90): Show CCCTTTCCTTTCCCCTTTCCTTTCCCCTTTCCTTTCCCCTTTCCTTTCCC CTTTCCTTTCCCCTTTCCTTTCCCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0008 a0002c0009t0008	a0002c0009t0008g0040 a0002c0009t0008g0040	1	9	0.1111	97	c.49- others(114): Show c.49-32540_49-32539insCCTTTCCTTTCCCCTTTCCTTTCCCCTT TCCTTTCCCCTTTCCTTTCCCCTTTCCTTTCCCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCAMP1_chr5_78355617_78485739	78448100	T T	TCCTCTCC others(90): Show TCCTCTCCCCCTCCCCCTTCCCCTCTTCCACTCCTCCCTCCTCCCCGCTC CTCTCCCCTCCTCCTCCTTCCTCCTCCTTCCTCCCCTTTCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(182): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18968.hp2 NA18973.hp2 NA18975.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0040 a0001c0001t0041 a0001c0002t0011 a0002c0003t0007 a0003c0004t0001 a0004c0005t0020	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0160 others(178): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0002 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0008g0179 a0001c0001t0008g0180 a0001c0001t0008g0181 a0001c0001t0008g0182 a0001c0001t0008g0183 a0001c0001t0008g0184 a0001c0001t0008g0259 a0001c0001t0011g0161 a0001c0001t0011g0217 a0001c0001t0015g0197 a0001c0001t0015g0198 a0001c0001t0017g0157 a0001c0001t0019g0211 a0001c0001t0019g0215 a0001c0001t0020g0325 a0001c0001t0021g0109 a0001c0001t0021g0110 a0001c0001t0023g0010 a0001c0001t0024g0196 a0001c0001t0025g0141 a0001c0001t0027g0176 a0001c0001t0028g0114 a0001c0001t0030g0145 a0001c0001t0031g0263 a0001c0001t0035g0248 a0001c0001t0036g0326 a0001c0001t0040g0107 a0001c0001t0041g0223 a0001c0002t0011g0021 a0002c0003t0007g0165 a0002c0003t0007g0166 a0002c0003t0007g0167 a0002c0003t0007g0168 a0002c0003t0007g0169 a0002c0003t0007g0170 a0002c0003t0007g0171 a0002c0003t0007g0172 a0002c0003t0007g0173 a0002c0003t0007g0174 a0003c0004t0001g0005 a0004c0005t0020g0327	185	323	0.5728	97	c.633 others(114): Show c.633-1833_633-1832insCCTCTCCCCCTCCCCCTTCCCCTCTTCC ACTCCTCCCTCCTCCCCGCTCCTCTCCCCTCCTCCTCCTTCCTCCTCCTT CCTCCCCTTTCCTCCCCCC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8			chr5	TogoVar
SCD5_chr4_82624539_82803796	82712297	T T	TATATATA others(90): Show TATATATACATATATATATATATATACGTATATATATATACATATATATA TATATACGTGTATATATATATATATATATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	195	0.0051	97	c.233 others(114): Show c.233-6885_233-6884insTATATATATATATATGTATATATATATA TATATATATACACGTATATATATATATATGTATATATATATACGTATATA TATATATATATGTATATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82712297	T T	TATATATA others(90): Show TATATATATACATATATATATATACGTATATATATATACATATATATATA TATATACGTATATATATATATATATATATATACATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0005	1	195	0.0051	97	c.233 others(114): Show c.233-6885_233-6884insTATATATATATATATGTATATATATATA TATATATATATACGTATATATATATATATATGTATATATATATACGTATA TATATATATGTATATATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1289847	G G	GTCCCTGC others(90): Show GTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	227	0.0044	97	c.166 others(114): Show c.1663-421_1663-420insCTGCTCCGTCCCCCGTGTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEC14L3_chr22_30454229_30477017	30454536	A A	AATAATAT others(90): Show AATAATATTATTATATATAATCTATAATAATATTATTATATATAATCTAT AATAATATTATTATATATAATCTATAATAATATTATTATATATAATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00609.hp2 others(24): Show HG00438.hp2 HG00544.hp2 HG00609.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01261.hp1 HG01884.hp2 HG01993.hp1 HG02129.hp2 HG02145.hp2 HG02622.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG03209.hp1 HG03225.hp1 HG03688.hp1 NA18522.hp1 NA18942.hp1 NA18954.hp1 NA18968.hp2 NA18977.hp1 NA18978.hp1 NA18997.hp1 NA19009.hp2 NA19080.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0004 a0001c0001 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0003c0003t0004 a0004c0004t0001	a0001c0001t0001g0130 a0001c0001t0002g0136 a0003c0003t0002g0003 others(19): Show a0001c0001t0001g0130 a0001c0001t0002g0136 a0003c0003t0002g0003 a0003c0003t0002g0011 a0003c0003t0002g0027 a0003c0003t0002g0036 a0003c0003t0002g0061 a0003c0003t0002g0063 a0003c0003t0002g0066 a0003c0003t0002g0076 a0003c0003t0002g0078 a0003c0003t0002g0101 a0003c0003t0002g0111 a0003c0003t0002g0112 a0003c0003t0002g0131 a0003c0003t0002g0155 a0003c0003t0002g0156 a0003c0003t0002g0163 a0003c0003t0004g0016 a0004c0004t0001g0038 a0004c0004t0001g0052 a0004c0004t0001g0108	27	134	0.2015	97	c.54 others(108): Show c.5484_*5485insAGATTATATATAATAATATTATTATAGATTATAT ATAATAATATTATTATAGATTATATATAATAATATTATTATAGATTATAT ATAATAATATTAT	SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding		4692		chr22	TogoVar
SEPTIN9_chr17_77276499_77505593	77380254	G G	GGCCCGCC others(90): Show GGCCCGCCCCCCCCCCCCCCCCCCGCATGCCCGCCTCCCCCTCCATGCCC GCCTCCCCCTCCATGCCCGCCTCCCCCTCCATGCCCGCTCCCCCCCAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	118	0.0085	97	c.77- others(114): Show c.77-21789_77-21788insCCCCCCCGCATGCCCGCCTCCCCCTCCA TGCCCGCCTCCCCCTCCATGCCCGCCTCCCCCTCCATGCCCGCTCCCCCC CATGCCCGCCCCCCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77380254	G G	GGCCCGCC others(90): Show GGCCCGCCCCCCCCCCCCCCCCCCGCATGCCCGCCTCCCCCTCCATGCCC GCCTCCCCCTCCATGCCCGCCTCCCCCTCCATGCCCGCTCCCCCCCAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	122	0.0082	97	c.23- others(114): Show c.23-21789_23-21788insCCCCCCCGCATGCCCGCCTCCCCCTCCA TGCCCGCCTCCCCCTCCATGCCCGCCTCCCCCTCCATGCCCGCTCCCCCC CATGCCCGCCCCCCCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169681	A A	ATATTGTA others(90): Show ATATTGTATATTGTATAATATATTGTATATTGTATAATATATTGTATATT GTATATTATATAATATATAATATATTGTATATTATATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02451.hp1 others(13): Show HG01243.hp2 HG01891.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0006 a0001c0002 a0002c0006	a0001c0002t0003 a0002c0006t0003 a0002c0006t0017 a0001c0002t0003 a0002c0006t0003 a0002c0006t0017	a0001c0002t0003g0024 a0001c0002t0003g0252 a0001c0002t0003g0253 others(12): Show a0001c0002t0003g0024 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0257 a0001c0002t0003g0292 a0001c0002t0003g0293 a0001c0002t0003g0294 a0001c0002t0003g0295 a0001c0002t0003g0296 a0001c0002t0003g0297 a0002c0006t0003g0250 a0002c0006t0003g0251 a0002c0006t0017g0256	16	338	0.0473	97	c.-15 others(108): Show c.-1544_-1543insCAATATATTATATATAATATACAATATATTATAT ATTATATAATATACAATATACAATATATTATACAATATACAATATATTAT ACAATATACAATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1420		chr6	TogoVar
SETDB2_chr13_49439274_49500003	49441226	T T	TATATATA others(90): Show TATATATATTATATATATATATATATATATATAATATATATATATATATA TAATATATATATATATATATATATAATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0232 a0001c0002t0003g0232	1	350	0.0029	97	c.-39 others(108): Show c.-3973_-3972insATATATATTATATATATATATATATATATATAAT ATATATATATATATATAATATATATATATATATATATATAATATATATAT ATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding		3047		chr13	TogoVar
SFMBT2_chr10_7153624_7416034	7378337	T T	TGTGTGTG others(90): Show TGTGTGTGGGTGTATGTGTGGATGGGTGGATGGATGGGTGTGAGTGTGGG TGTGTGTGGGTGTATGTGTGGATGGGTGATGGATGGGTGTGAGTGTGG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0014 a0001c0003t0006g0014	1	142	0.0070	97	c.100 others(114): Show c.100+3461_100+3462insCCACACTCACACCCATCCATCACCCATC CACACATACACCCACACACACCCACACTCACACCCATCCATCCACCCATC CACACATACACCCACACAC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20			chr10	TogoVar
SGSM2_chr17_2332501_2386054	2354989	G G	GGGAAAGG others(90): Show GGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	417	0.0024	97	c.134 others(114): Show c.134-6646_134-6645insAAAGGGACCCCATATCTTAGAATGGTGG AATCGGGGTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGA ATCGGGGTGTAAGGGTTGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SH3YL1_chr2_213144_269032	214552	C C	CCCTGCCA others(90): Show CCCTGCCAACAGGCACCGGGCTGCTTCTGCCAACAGACACCGGGCTGCTT CTGCCAACAGGCACCGGGGCTGCCCCTGCCAACAGACACCGGGCTGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	139	0.0072	97	c.42 others(108): Show c.4258_*4259insAGCAGCCCGGTGTCTGTTGGCAGGGGCAGCCCCG GTGCCTGTTGGCAGAAGCAGCCCGGTGTCTGTTGGCAGAAGCAGCCCGGT GCCTGTTGGCAGG	SH3YL1	ENSG00000035115.22	transcript	ENST00000356150.10	protein_coding		3591		chr2	TogoVar
SHISA5_chr3_48462876_48509174	48483722	C C	CCCCCCCA others(90): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGCGGGGGGCTGAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	13	0.0769	97	c.234 others(114): Show c.234-4466_234-4465insCTCAGCCCCCCGCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGG	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(90): Show TTTCCCTTCCCTTCCTTTCCCTTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0123 a0001c0001t0011g0123	1	76	0.0132	97	c.691 others(116): Show c.691+99150_691+99151insTTTCCCTTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIMC1_chr5_176233424_176350989	176306031	T T	TGAGGGGG others(90): Show TGAGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGCGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	330	0.0030	97	c.173 others(116): Show c.1735-7660_1735-7659insGAGGGGGTCAGCCCCCCACCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGG	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9			chr5	TogoVar
SLAIN1_chr13_77692687_77769229	77704003	C C	CATATGTT others(90): Show CATATGTTTTATAAGTGTATATATACACATATAAAATATATATACATATA TATATATACACATATACATATATATACACATATAAAATATATATACAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	144	0.0069	97	c.626 others(114): Show c.626+5466_626+5467insATGTTTTATAAGTGTATATATACACATA TAAAATATATATACATATATATATATACACATATACATATATATACACAT ATAAAATATATATACATAT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC16A9_chr10_59645764_59714850	59678326	C C	CAGGTTCC others(90): Show CAGGTTCCTCAATCCTTGCTCCAGCAAAGACTGTAAATCTCAAGTTCATC TCCTTGAGAAAGAAAAAGGCACTAAGGAGCCACACCCACTCAAATTGT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	350	0.0029	97	c.197 others(114): Show c.197-5510_197-5414dupACAATTTGAGTGGGTGTGGCTCCTTAGT GCCTTTTTCTTTCTCAAGGAGATGAACTTGAGATTTACAGTCTTTGCTGG AGCAAGGATTGAGGAACCT	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC22A1_chr6_160116815_160163718	160152653	T T	TCTTTCTT others(90): Show TCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0005 a0005	a0005c0030 a0005c0030	a0005c0030t0001 a0005c0030t0001	a0005c0030t0001g0199 a0005c0030t0001g0199	1	412	0.0024	97	c.138 others(116): Show c.1386-2136_1386-2135insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTTCTTTC	SLC22A1	ENSG00000175003.15	transcript	ENST00000366963.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC25A41_chr19_6421037_6438763	6429100	T T	TATATATA others(90): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATAATATATATATTATATATATGTTAC	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA18942.hp1 NA18951.hp2 others(4): Show HG02165.hp1 NA18942.hp1 NA18951.hp2 NA18970.hp2 NA18981.hp1 NA19010.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0180 a0001c0002t0001g0196 others(3): Show a0001c0002t0001g0038 a0001c0002t0001g0180 a0001c0002t0001g0196 a0001c0002t0001g0225 a0001c0002t0001g0227 a0001c0002t0001g0236	7	258	0.0271	97	c.624 others(112): Show c.624+623_624+624insGTAACATATATATAATATATATATTATATA TGTAACATATATATAATATATATATTATATATATATATAACATATATATA ATATATATATTATATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC41A3_chr3_126001357_126089124	126059263	G G	GAAAGAAA others(90): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAGAGAGAGAGAGAG AGAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0004 a0001c0001t0003g0004	1	3	0.3333	97	c.274 others(114): Show c.274-8214_274-8213insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTCTCTCTCTCTCTCTCTCTCTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTT	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC41A3_chr3_126001357_126089124	126059307	A A	AGAGAGAA others(90): Show AGAGAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0071 a0001c0002t0002g0071	1	134	0.0075	97	c.274 others(114): Show c.274-8258_274-8257insCCTTTCTTTCTTTCCTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTCTTTCTCTC	SLC41A3	ENSG00000114544.17	transcript	ENST00000360370.9	protein_coding	2/10			chr3	TogoVar
SLC45A4_chr8_141202174_141313288	141203522	G G	GAGGGAGA others(90): Show GAGGGAGAGAGGGAGAGAGGGAGAGGGAGAGAGGGAGAGAGAGGAGAGAG GGAGAGAGGGAGAGAGGAGAGGGAGAGAGGGAGAGAGGGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0013 a0002c0001t0013	a0002c0001t0013g0047 a0002c0001t0013g0047	1	167	0.0060	97	c.80 others(108): Show c.8049_*8050insTCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCCT CTCTCCCTCTCTCCCTCTCTCCTCTCTCTCCCTCTCTCCCTCTCCCTCTC TCCCTCTCTCCCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3651		chr8	TogoVar
SLC46A3_chr13_28695080_28723970	28695333	C C	CTCCTGTC others(90): Show CTCCTGTCACTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTA TTTTATTTTTTTTTATTTTTATTGATCATTCTTGGGTGTTTCTCGCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0199 a0001c0001t0028g0199	1	424	0.0024	97	c.61 others(108): Show c.6163_*6164insCTGCGAGAAACACCCAAGAATGATCAATAAAAAT AAAAAAAAATAAAATAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA AAAAGTGACAGGA	SLC46A3	ENSG00000139508.15	transcript	ENST00000266943.11	protein_coding		4746		chr13	TogoVar
SLC7A10_chr19_33203664_33230850	33218666	T T	TTTCTTTT others(90): Show TTTCTTTTCTTTCTTTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01981.hp1 HG01993.hp2 others(7): Show HG00323.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02148.hp1 HG03041.hp2 HG04228.hp1 NA18522.hp1 NA18983.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(7): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0237 a0001c0001t0001g0322 a0001c0001t0001g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0002t0001g0323	10	325	0.0308	97	c.152 others(114): Show c.152-2694_152-2693insGGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG AGAGAAAGAAAGAAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218666	T T	TTTCTTTT others(90): Show TTTCTTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	316	0.0032	97	c.152 others(114): Show c.152-2694_152-2693insGGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AGAGAAAGAAAGAAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC9A3_chr5_465456_529449	492373	T T	TCGGGGTG others(90): Show TCGGGGTGGGACCTGCGGGGGAGGGGAGGGAGGTCGGGGTGGGACCTGTG GGGCAGAGGAGGGAGGTCAGGGTGGGGCCTTGGGAGAGGGCAGGTAGG	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0203 a0002c0002t0003g0203	1	213	0.0047	97	c.212 others(112): Show c.212-303_212-302insCCTACCTGCCCTCTCCCAAGGCCCCACCCT GACCTCCCTCCTCTGCCCCACAGGTCCCACCCCGACCTCCCTCCCCTCCC CCGCAGGTCCCACCCCG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143469	A A	ATATATAT others(90): Show ATATATATAAAATATATATATTATATATAATATATATAAAATATATATAT TATATATAATATATATAAAATATATATATTATATATATATAAATAAAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0049 a0002c0005t0049	a0002c0005t0049g0161 a0002c0005t0049g0161	1	132	0.0076	97	c.151 others(116): Show c.1513-3515_1513-3514insTATATATAAAATATATATATTATATA TAATATATATAAAATATATATATTATATATAATATATATAAAATATATAT ATTATATATATATAAATAAAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850382	T T	TATTATAC others(90): Show TATTATACATATTATGTATAATATATATATTATATATTATACATATTATG TATAATATATATTATATATTATATATATTATATATATTATGTATAATA	intron_variant intron_variant	MODIFIER	HG03942.hp2 NA18981.hp1 HG03942.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0245 a0001c0001t0004 a0001c0001t0245	a0001c0001t0004g0131 a0001c0001t0245g0127 a0001c0001t0004g0131 a0001c0001t0245g0127	2	127	0.0157	97	c.784 others(112): Show c.784+891_784+892insTATTATACATAATATATATAATATATATAA TATATAATATATATTATACATAATATGTATAATATATAATATATATATTA TACATAATATGTATAAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850382	T T	TATTATAC others(90): Show TATTATACATATTATGTATAATATATATATTATATATTATATATATTATG TATAATATATATTATATATTATATATATTATATATATTATGTATAATA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG04115.hp2 HG01257.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0152 a0001c0001t0004 a0001c0001t0152	a0001c0001t0004g0159 a0001c0001t0152g0146 a0001c0001t0004g0159 a0001c0001t0152g0146	2	127	0.0157	97	c.784 others(112): Show c.784+891_784+892insTATTATACATAATATATATAATATATATAA TATATAATATATATTATACATAATATATATAATATATAATATATATATTA TACATAATATGTATAAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMYD3_chr1_245744347_246512279	246232671	C C	CCACACTG others(90): Show CCACACTGTGATGAATATATACCACACAGAGAAGAAGCGCTCCTTCAATT CACACTGTGATGAACATATACCACACAGGGGAGAAGCGCTCCTCAATT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp2 HG02109.hp1 others(6): Show HG01175.hp2 HG01981.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02895.hp1 HG03225.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0009t0001 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0013 a0001c0001t0002g0063 a0001c0001t0002g0069 others(6): Show a0001c0001t0001g0013 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0002t0001g0012 a0001c0002t0001g0066 a0001c0009t0001g0002 a0002c0003t0001g0105 a0002c0003t0002g0129 a0002c0003t0002g0150	9	149	0.0604	97	c.531 others(116): Show c.531+94529_531+94530insAATTGAGGAGCGCTTCTCCCCTGTGT GGTATATGTTCATCACAGTGTGAATTGAAGGAGCGCTTCTTCTCTGTGTG GTATATATTCATCACAGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SND1_chr7_127647194_128097593	127987816	C C	CTGACATA others(90): Show CTGACATATATAACTAACATATATAGTATGTTAGTTATATATGTCATATA TAGTCATATATATGTCATATATATGACATATAACTAACATATATAGTA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01243.hp2 HG01943.hp2 others(11): Show HG01192.hp2 HG01243.hp2 HG01943.hp2 HG02258.hp2 HG02622.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp2 NA18747.hp2 NA18979.hp1 NA18985.hp2 NA18998.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0001g0260 a0001c0001t0002g0033 others(11): Show a0001c0001t0001g0112 a0001c0001t0001g0260 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115	14	260	0.0538	97	c.167 others(116): Show c.1670-3105_1670-3104insATGTTAGTTATATATGTCATATATAG TCATATATATGTCATATATATGACATATAACTAACATATATAGTATGACA TATATAACTAACATATATAGT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	15/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNW1_chr14_77712599_77766156	77755167	T T	TTCTTTCT others(90): Show TTCTTTCTCTCTTTTTCTTTCTCGTTTTTCTTTTTTCTTTCTCTTTTTTT CTTTTTTTCTTTATTTTCTCTTTCTTTTTTCTTCATTTTACTCCTTTC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0275 a0002c0005t0001g0275	1	364	0.0027	97	c.15- others(108): Show c.15-48_15-47insGAAAGGAGTAAAATGAAGAAAAAAGAAAGAGAAA ATAAAGAAAAAAAGAAAAAAAGAGAAAGAAAAAAGAAAAACGAGAAAGAA AAAGAGAGAAAGA	SNW1	ENSG00000100603.14	transcript	ENST00000261531.12	protein_coding	1/13			chr14	TogoVar
SNX9_chr6_157818246_157950077	157827515	A A	ATATATTA others(90): Show ATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAAT ATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG04204.hp1 NA18964.hp1 others(1): Show HG01257.hp2 HG04204.hp1 NA18964.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0132 a0001c0001t0001g0151 a0001c0001t0001g0210 others(1): Show a0001c0001t0001g0132 a0001c0001t0001g0151 a0001c0001t0001g0210 a0001c0001t0006g0209	4	24	0.1667	97	c.12+ others(112): Show c.12+4073_12+4074insTTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATATTATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS2_chr4_7187538_7747827	7448890	C C	CCCTTCCT others(90): Show CCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCC CTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0133 a0001c0002t0002g0133	1	77	0.0130	97	c.548 others(116): Show c.548+52538_548+52539insTCCTCTTTTCCCTCTCTCCCTCCCTT CCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCC TCCCTCCCTCCCTCCCTTCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7676799	T T	TTCTCTCT others(90): Show TTCTCTCTCTCTCCCTCTCCCTCTCTCCACCCCAGCCCCTTCGTCTCCTC CTTCCTCTCCCTCTGTGTGTCTGAAGTCTGCCTTTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp2 HG02486.hp1 HG02647.hp2	a0001 a0001	a0001c0010 a0001c0011 a0001c0010 a0001c0011	a0001c0010t0060 a0001c0011t0015 a0001c0010t0060 a0001c0011t0015	a0001c0010t0060g0167 a0001c0011t0015g0077 a0001c0010t0060g0167 a0001c0011t0015g0077	2	105	0.0190	97	c.134 others(114): Show c.1341+573_1341+574insCTCTCTCTCCCTCTCCCTCTCTCCACCC CAGCCCCTTCGTCTCCTCCTTCCTCTCCCTCTGTGTGTCTGAAGTCTGCC TTTCTCTCTCTCTCTCTCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7676810	T T	TCCCTCTC others(90): Show TCCCTCTCCCTCTCTCCACCCCAGCCCCTTCGTCTCCTCCTTCCTCTCCC TCTGTGTGTCTGAAGTCTGCCTTTCTGTCTCTCTCTCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 NA20300.hp2 HG01891.hp1 HG02647.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0015 a0004c0044 a0001c0015 a0004c0044	a0001c0015t0011 a0004c0044t0041 a0001c0015t0011 a0004c0044t0041	a0001c0015t0011g0002 a0001c0015t0011g0015 a0004c0044t0041g0016 a0001c0015t0011g0002 a0001c0015t0011g0015 a0004c0044t0041g0016	3	168	0.0179	97	c.134 others(114): Show c.1341+582_1341+583insCCTCTCCCTCTCTCCACCCCAGCCCCTT CGTCTCCTCCTTCCTCTCCCTCTGTGTGTCTGAAGTCTGCCTTTCTGTCT CTCTCTCTCTCTCTCTCCC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPATA6_chr1_48290373_48477204	48384337	A A	AGAGGGGG others(90): Show AGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0163 a0001c0001t0013g0163	1	318	0.0031	97	c.909 others(112): Show c.909+971_909+972insCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
SPECC1_chr17_20004359_20324026	20025176	G G	GTTTAAAT others(90): Show GTTTAAATTTTTAAAATTTTTATTTATAAATTTAATAATATTAATAATTA AAAAATTATAATTTATAGATAATAAATTTTTAAAATTTAATTATAATT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0070 a0004c0005t0070	a0004c0005t0070g0239 a0004c0005t0070g0239	1	248	0.0040	97	c.-22 others(116): Show c.-22+15752_-22+15753insTTTAAATTTTTAAAATTTTTATTTAT AAATTTAATAATATTAATAATTAAAAAATTATAATTTATAGATAATAAAT TTTTAAAATTTAATTATAATT	SPECC1	ENSG00000128487.19	transcript	ENST00000395527.9	protein_coding	1/14			chr17	TogoVar

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