Joint Open Genome and Omics Platform (JoGo)

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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
SBF2_chr11_9773668_10299219	10254900	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19063.hp1 HG02074.hp1 NA19063.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0003 a0001c0001t0001 a0003c0004t0003	a0001c0001t0001g0110 a0003c0004t0003g0111 a0001c0001t0001g0110 a0003c0004t0003g0111	2	5	0.4000	19	c.55+ others(36): Show c.55+39096_55+39114dupTTTTTTTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBNO1_chr12_123284109_123369847	123297400	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00738.hp1 others(21): Show HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01928.hp1 HG02071.hp1 HG02155.hp1 HG02451.hp1 HG02523.hp1 HG02683.hp2 HG02818.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp2 HG04228.hp1 NA18747.hp1 NA18942.hp2 NA18949.hp1 NA18981.hp1 NA18999.hp1 NA19000.hp2 NA19090.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0001 a0001c0005 a0005c0016 others(1): Show a0001c0001 a0001c0005 a0005c0016 a0006c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0027 a0001c0001t0033 a0001c0001t0055 a0001c0005t0015 a0001c0005t0025 a0005c0016t0001 a0006c0017t0058	a0001c0001t0001g0120 a0001c0001t0001g0152 a0001c0001t0001g0154 others(21): Show a0001c0001t0001g0120 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0004g0213 a0001c0001t0007g0179 a0001c0001t0007g0214 a0001c0001t0017g0135 a0001c0001t0018g0193 a0001c0001t0027g0165 a0001c0001t0033g0187 a0001c0001t0055g0156 a0001c0005t0015g0204 a0001c0005t0015g0205 a0001c0005t0015g0206 a0001c0005t0025g0200 a0005c0016t0001g0190 a0006c0017t0058g0185	24	119	0.2017	19	c.403 others(36): Show c.4039+559_4039+577dupTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	31/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123307020	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 NA18942.hp1 NA18999.hp2 HG02738.hp2 NA18942.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0089 a0001c0002t0090 a0001c0002t0002 a0001c0002t0089 a0001c0002t0090	a0001c0002t0002g0229 a0001c0002t0089g0245 a0001c0002t0090g0219 a0001c0002t0002g0229 a0001c0002t0089g0245 a0001c0002t0090g0219	3	74	0.0405	19	c.363 others(38): Show c.3630+2271_3630+2289dupTTTTTTTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	28/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123324205	C C	CCAGTCAT others(12): Show CCAGTCATTTCAACTGCTCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02630.hp2 HG02922.hp2 HG02145.hp1 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0013 a0001c0010 a0001c0013	a0001c0010t0059 a0001c0010t0060 a0001c0013t0069 a0001c0010t0059 a0001c0010t0060 a0001c0013t0069	a0001c0010t0059g0129 a0001c0010t0060g0118 a0001c0013t0069g0192 a0001c0010t0059g0129 a0001c0010t0060g0118 a0001c0013t0069g0192	3	258	0.0116	19	c.197 others(36): Show c.1974-393_1974-375dupTGAGCAGTTGAAATGACTG	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	15/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1134138	C C	CCACAGCT others(12): Show CCACAGCTCACGGGTGGACT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA20905.hp1 HG02074.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0110 a0001c0001t0001g0111	2	159	0.0126	19	c.280 others(36): Show c.280-6392_280-6374dupAGTCCACCCGTGAGCTGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1134316	A A	ACGGGTGG others(12): Show ACGGGTGGACCCACAGCTCC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG01099.hp2 others(26): Show HG00408.hp2 HG00438.hp2 HG01099.hp2 HG01255.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG02129.hp2 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02602.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG03195.hp2 HG03688.hp1 HG04184.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18945.hp1 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp1 NA19080.hp1 NA19081.hp1 NA19085.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0005 a0001c0007 a0001c0010 others(9): Show a0001c0005 a0001c0007 a0001c0010 a0001c0011 a0001c0020 a0001c0023 a0001c0024 a0001c0034 a0001c0035 a0003c0014 a0004c0012 a0008c0031	a0001c0005t0001 a0001c0007t0001 a0001c0010t0001 others(9): Show a0001c0005t0001 a0001c0007t0001 a0001c0010t0001 a0001c0011t0001 a0001c0020t0001 a0001c0023t0001 a0001c0024t0001 a0001c0034t0001 a0001c0035t0001 a0003c0014t0001 a0004c0012t0002 a0008c0031t0001	a0001c0005t0001g0056 a0001c0005t0001g0091 a0001c0005t0001g0103 others(26): Show a0001c0005t0001g0056 a0001c0005t0001g0091 a0001c0005t0001g0103 a0001c0005t0001g0115 a0001c0005t0001g0130 a0001c0005t0001g0131 a0001c0005t0001g0138 a0001c0005t0001g0144 a0001c0005t0001g0145 a0001c0005t0001g0164 a0001c0007t0001g0135 a0001c0007t0001g0176 a0001c0007t0001g0182 a0001c0007t0001g0185 a0001c0010t0001g0002 a0001c0010t0001g0022 a0001c0010t0001g0035 a0001c0011t0001g0079 a0001c0011t0001g0104 a0001c0020t0001g0027 a0001c0023t0001g0139 a0001c0024t0001g0178 a0001c0034t0001g0067 a0001c0035t0001g0153 a0003c0014t0001g0003 a0003c0014t0001g0133 a0003c0014t0001g0134 a0004c0012t0002g0005 a0008c0031t0001g0196	29	202	0.1436	19	c.280 others(36): Show c.280-6570_280-6552dupGGAGCTGTGGGTCCACCCG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1134336	C C	CGGGTGGA others(12): Show CGGGTGGACCCACAGCTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02572.hp1 others(2): Show HG01243.hp1 HG02055.hp2 HG02572.hp1 HG02647.hp2 NA19030.hp2	a0001 a0004 a0001 a0004	a0001c0010 a0001c0032 a0001c0038 others(1): Show a0001c0010 a0001c0032 a0001c0038 a0004c0012	a0001c0010t0001 a0001c0032t0001 a0001c0038t0001 others(2): Show a0001c0010t0001 a0001c0032t0001 a0001c0038t0001 a0004c0012t0002 a0004c0012t0007	a0001c0010t0001g0193 a0001c0032t0001g0151 a0001c0038t0001g0148 others(2): Show a0001c0010t0001g0193 a0001c0032t0001g0151 a0001c0038t0001g0148 a0004c0012t0002g0180 a0004c0012t0007g0195	5	202	0.0248	19	c.280 others(36): Show c.280-6572_280-6571insAGGAGCTGTGGGTCCACCC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067607	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG01884.hp2 others(2): Show HG00323.hp1 HG00738.hp1 HG01884.hp2 HG02559.hp2 NA20805.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0002c0002t0003 a0003c0003t0006 others(1): Show a0002c0002t0002 a0002c0002t0003 a0003c0003t0006 a0003c0003t0007	a0002c0002t0002g0208 a0002c0002t0003g0143 a0003c0003t0006g0086 others(2): Show a0002c0002t0002g0208 a0002c0002t0003g0143 a0003c0003t0006g0086 a0003c0003t0007g0054 a0003c0003t0007g0079	5	262	0.0191	19	c.678 others(34): Show c.678-150_678-149insATATATATATATATATATA	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCAF8_chr6_154728416_154839221	154784155	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	195	0.0051	19	c.160 others(36): Show c.160-3703_160-3702insATATATATATATATATTAT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154790489	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	13	0.0769	19	c.322 others(36): Show c.322-2313_322-2295dupTTTTTTTTTTTTTTTTTTT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125002488	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03098.hp2 HG01109.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0043 a0001c0001t0027g0044 a0001c0001t0027g0043 a0001c0001t0027g0044	2	109	0.0183	19	c.106 others(36): Show c.1066-446_1066-445insAAAAAAAAAAAAAAAAAAA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	11/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106120	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	216	0.0046	19	c.98+ others(36): Show c.98+36512_98+36513insATATATATATATATATATA	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	49	0.0204	19	c.98+ others(36): Show c.98+36510_98+36511insATATTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA19065.hp1 NA19065.hp2 HG00558.hp1 NA19065.hp1 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0001c0001t0064 a0002c0002t0032 a0001c0001t0013 a0001c0001t0064 a0002c0002t0032	a0001c0001t0013g0134 a0001c0001t0064g0157 a0002c0002t0032g0248 a0001c0001t0013g0134 a0001c0001t0064g0157 a0002c0002t0032g0248	3	51	0.0588	19	c.98+ others(36): Show c.98+36510_98+36511insATATATTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp2 HG00609.hp1 HG00741.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0006 a0001c0001t0003 a0002c0002t0006	a0001c0001t0003g0148 a0002c0002t0006g0257 a0001c0001t0003g0148 a0002c0002t0006g0257	2	50	0.0400	19	c.98+ others(36): Show c.98+36510_98+36511insATATATATTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03710.hp1 HG02055.hp1 HG03710.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0025 a0002c0004t0004 a0002c0002t0025 a0002c0004t0004	a0002c0002t0025g0280 a0002c0004t0004g0230 a0002c0002t0025g0280 a0002c0004t0004g0230	2	50	0.0400	19	c.98+ others(36): Show c.98+36510_98+36511insATATATATATTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(12): Show AAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0274 a0002c0002t0014g0274	1	49	0.0204	19	c.98+ others(36): Show c.98+36510_98+36511insATATATATATATTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78430084	A A	AGTATTTA others(12): Show AGTATTTATTTATAAATACT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0321 a0001c0001t0003g0321	1	311	0.0032	19	c.632 others(36): Show c.632+8142_632+8143insTGTATTTATTTATAAATAC	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460796	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18984.hp1 HG03831.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0284 a0001c0001t0003g0316 a0001c0001t0003g0284 a0001c0001t0003g0316	2	294	0.0068	19	c.852 others(36): Show c.852+1434_852+1435insTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460800	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA18945.hp2 NA18994.hp2 HG03453.hp1 NA18945.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0276 a0001c0001t0003g0282 a0001c0001t0003g0286 a0001c0001t0003g0276 a0001c0001t0003g0282 a0001c0001t0003g0286	3	267	0.0112	19	c.852 others(36): Show c.852+1438_852+1439insTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460804	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03209.hp2 HG04184.hp1 others(1): Show HG02809.hp2 HG03209.hp2 HG04184.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0285 a0001c0001t0003g0298 others(1): Show a0001c0001t0003g0163 a0001c0001t0003g0285 a0001c0001t0003g0298 a0001c0001t0003g0321	4	267	0.0150	19	c.852 others(36): Show c.852+1442_852+1443insTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460808	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0309	1	251	0.0040	19	c.852 others(36): Show c.852+1446_852+1447insTTTCTTTCTTTCTTTCTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8			chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74873426	G G	GCCCGCCC others(12): Show GCCCGCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0299 a0001c0001t0019g0299	1	39	0.0256	19	c.-17 others(28): Show c.-172_-171insGGGGGGGGGGGGGGGCGGG	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		62		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0309	1	134	0.0075	19	c.-14 others(30): Show c.-1407_-1406insATATTTTTTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0332 a0001c0001t0006g0332	1	134	0.0075	19	c.-14 others(30): Show c.-1407_-1406insATATATTTTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0319 a0001c0001t0003g0319	1	134	0.0075	19	c.-14 others(30): Show c.-1407_-1406insATATATATTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 NA18956.hp1 NA19070.hp2 HG02004.hp2 NA18956.hp1 NA19070.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0003c0005t0003 a0001c0001t0002 a0001c0001t0004 a0003c0005t0003	a0001c0001t0002g0290 a0001c0001t0004g0320 a0003c0005t0003g0313 a0001c0001t0002g0290 a0001c0001t0004g0320 a0003c0005t0003g0313	3	136	0.0221	19	c.-14 others(30): Show c.-1407_-1406insATATATATATTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP4_chr19_1900399_1931013	1906865	A A	AATTGTGT others(12): Show AATTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	426	0.0023	19	c.-42 others(36): Show c.-42+1426_-42+1427insATTGTGTGTGTGTGTGTGT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6			chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1906866	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0099 a0001c0001t0030g0099	1	132	0.0076	19	c.-42 others(36): Show c.-42+1427_-42+1428insGTGTGTGTGTGTGTGTGTG	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6			chr19	TogoVar
SCAPER_chr15_76342904_76910340	76431676	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18993.hp1 NA19043.hp2 HG02622.hp2 NA18993.hp1 NA19043.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0002c0003 a0010c0019 a0002c0002 a0002c0003 a0010c0019	a0002c0002t0002 a0002c0003t0002 a0010c0019t0001 a0002c0002t0002 a0002c0003t0002 a0010c0019t0001	a0002c0002t0002g0304 a0002c0003t0002g0199 a0010c0019t0001g0127 a0002c0002t0002g0304 a0002c0003t0002g0199 a0010c0019t0001g0127	3	17	0.1765	19	c.331 others(38): Show c.3311+2383_3311+2401dupTTTTTTTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02132.hp2 NA18939.hp2 others(2): Show HG01516.hp1 HG02132.hp2 NA18939.hp2 NA18990.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0259 others(2): Show a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0259 a0002c0002t0002g0268 a0002c0002t0002g0304	5	12	0.4167	19	c.295 others(40): Show c.2954+16126_2954+16144dupAAAAAAAAAAAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG02622.hp2 others(4): Show HG02055.hp1 HG02280.hp1 HG02622.hp2 HG03130.hp2 HG03516.hp1 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039	7	33	0.2121	19	c.-99 others(36): Show c.-99+2700_-99+2718dupTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCARA3_chr8_27628902_27678018	27634807	G G	GAGCCAGC others(12): Show GAGCCAGCAGCAGGGTGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03209.hp1 NA19240.hp2 HG02886.hp1 HG03209.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0004 a0001c0001t0005 a0002c0002t0004	a0001c0001t0005g0110 a0001c0001t0005g0337 a0002c0002t0004g0111 a0001c0001t0005g0110 a0001c0001t0005g0337 a0002c0002t0004g0111	3	406	0.0074	19	c.7+6 others(30): Show c.7+601_7+619dupAGCCAGCAGCAGGGTGGCC	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA3_chr8_27628902_27678018	27668546	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	240	0.0042	19	c.137 others(38): Show c.1370-2338_1370-2337insAAAAAAAAAAAAAAAAAAA	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA5_chr8_27864883_27997673	27907572	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03017.hp1 HG04184.hp1 others(3): Show HG01891.hp2 HG03017.hp1 HG04184.hp1 NA18943.hp2 NA19000.hp1 NA19087.hp1	a0002 a0002	a0002c0006 a0002c0010 a0002c0015 others(1): Show a0002c0006 a0002c0010 a0002c0015 a0002c0017	a0002c0006t0001 a0002c0010t0003 a0002c0015t0014 others(1): Show a0002c0006t0001 a0002c0010t0003 a0002c0015t0014 a0002c0017t0020	a0002c0006t0001g0152 a0002c0006t0001g0282 a0002c0006t0001g0298 others(3): Show a0002c0006t0001g0152 a0002c0006t0001g0282 a0002c0006t0001g0298 a0002c0010t0003g0165 a0002c0015t0014g0226 a0002c0017t0020g0035	6	36	0.1667	19	c.998 others(34): Show c.998-345_998-327dupAAAAAAAAAAAAAAAAAAA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	5/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27936592	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01261.hp1 HG01884.hp2 HG00733.hp2 HG01261.hp1 HG01884.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0004 a0001c0007t0064 a0001c0007t0001 a0001c0007t0004 a0001c0007t0064	a0001c0007t0001g0118 a0001c0007t0004g0158 a0001c0007t0064g0313 a0001c0007t0001g0118 a0001c0007t0004g0158 a0001c0007t0064g0313	3	29	0.1034	19	c.242 others(38): Show c.242-14366_242-14348dupTTTTTTTTTTTTTTTTTTT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	3/8			chr8	TogoVar
SCARB1_chr12_124771856_124868864	124837594	A A	AAAAGAAA others(12): Show AAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA18994.hp2 HG00140.hp1 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0269 a0001c0002t0001g0081 a0001c0002t0001g0269	2	121	0.0165	19	c.127 others(38): Show c.127-19888_127-19887insCTTTTCTTTTCTTTTCTTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARF1_chr17_1628858_1650732	1643238	T T	TCCCCGCC others(12): Show TCCCCGCCCACCGGTGTCCG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00639.hp2 others(40): Show HG00544.hp2 HG00558.hp2 HG00639.hp2 HG00738.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02055.hp1 HG02132.hp1 HG02451.hp1 HG02572.hp1 HG02698.hp2 HG03490.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18948.hp2 NA18951.hp1 NA18956.hp1 NA18960.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18979.hp2 NA18992.hp1 NA18992.hp2 NA18999.hp2 NA19055.hp2 NA19060.hp1 NA19066.hp2 NA19085.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0007 a0011 a0012 a0018	a0001c0001 a0001c0010 a0002c0002 others(7): Show a0001c0001 a0001c0010 a0002c0002 a0002c0019 a0004c0004 a0005c0005 a0007c0007 a0011c0012 a0012c0015 a0018c0035	a0001c0001t0001 a0001c0001t0006 a0001c0010t0001 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0010t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0019t0001 a0004c0004t0002 a0005c0005t0002 a0005c0005t0003 a0007c0007t0004 a0011c0012t0002 a0011c0012t0008 a0012c0015t0002 a0018c0035t0002	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0051 others(25): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0006g0168 a0001c0010t0001g0064 a0002c0002t0001g0167 a0002c0002t0002g0027 a0002c0002t0002g0045 a0002c0002t0002g0162 a0002c0002t0002g0165 a0002c0002t0003g0164 a0002c0002t0005g0046 a0002c0002t0005g0163 a0002c0002t0005g0174 a0002c0019t0001g0055 a0004c0004t0002g0048 a0005c0005t0002g0166 a0005c0005t0003g0161 a0007c0007t0004g0173 a0011c0012t0002g0049 a0011c0012t0008g0181 a0012c0015t0002g0047 a0018c0035t0002g0180	43	324	0.1327	19	c.791 others(34): Show c.791+185_791+203dupCGGACACCGGTGGGCGGGG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	4/10			chr17	TogoVar
SCARF1_chr17_1628858_1650732	1643241	C C	CCGCCCAC others(12): Show CCGCCCACCGGTGTCCGCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0008 a0002c0002t0002g0008	1	400	0.0025	19	c.791 others(34): Show c.791+200_791+201insCGGCGGACACCGGTGGGCG	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding	4/10			chr17	TogoVar
SCART1_chr10_133448945_133474760	133453920	G G	GTGACTCT others(12): Show GTGACTCTGGGCTGTGACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	432	0.0023	19	c.-78 others(26): Show c.-78_-77insTGACTCTGGGCTGTGACCT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding		24		chr10	TogoVar
SCD5_chr4_82624539_82803796	82670642	C C	CATATCAA others(12): Show CATATCAATTGATATGGCAA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	133	0.0075	19	c.569 others(38): Show c.569+10064_569+10065insTTGCCATATCAATTGATAT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82679211	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19007.hp2 HG02109.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0170 a0001c0001t0009g0198 a0001c0001t0001g0170 a0001c0001t0009g0198	2	95	0.0211	19	c.569 others(36): Show c.569+1495_569+1496insCTCTCTTTCTTTCTTTCTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82679220	A A	AAAGAAAG others(12): Show AAAGAAAGAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	122	0.0082	19	c.569 others(36): Show c.569+1486_569+1487insCTTTCTTTCTCTCTTTCTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG03041.hp2 HG03225.hp1 others(3): Show HG02015.hp2 HG03041.hp2 HG03225.hp1 NA18612.hp2 NA18975.hp1 NA18998.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0088 a0001c0004t0002g0123 a0001c0004t0002g0124 others(3): Show a0001c0004t0002g0088 a0001c0004t0002g0123 a0001c0004t0002g0124 a0001c0004t0002g0225 a0001c0004t0002g0289 a0001c0004t0002g0290	6	107	0.0561	19	c.169 others(36): Show c.1692-931_1692-913dupAAAAAAAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	53007305	G G	GAGAGAGA others(12): Show GAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0100 a0001c0003t0005g0100	1	48	0.0208	19	c.156 others(40): Show c.1562-86436_1562-86435insTCTCTCTCTCTCTCTCTCT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704250	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	400	0.0025	19	c.120 others(38): Show c.1207+3007_1207+3025dupATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1D1_chr11_62185216_62198539	62196466	T T	TATTATTA others(12): Show TATTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	421	0.0024	19	c.30 others(30): Show c.3038_*3039insATTATTATTATTATTATTA	SCGB1D1	ENSG00000168515.3	transcript	ENST00000306238.3	protein_coding		2928		chr11	TogoVar
SCGB1D2_chr11_62237239_62249812	62237809	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0007 a0002c0003t0002g0007	1	141	0.0071	19	c.-44 others(30): Show c.-4499_-4498insTGTGTGTGTGTGTGTGTGT	SCGB1D2	ENSG00000124935.4	transcript	ENST00000244926.4	protein_coding		4429		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62272042	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	59	0.0169	19	c.244 others(34): Show c.244-912_244-894dupAAAAAAAAAAAAAAAAAAA	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCGN_chr6_25647215_25706783	25668700	A A	AGATATAC others(12): Show AGATATACTTGGGACAGGCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02922.hp2 HG02970.hp1 HG02486.hp2 HG02922.hp2 HG02970.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0005 a0001c0001t0009 a0004c0005t0011 a0001c0001t0005 a0001c0001t0009 a0004c0005t0011	a0001c0001t0005g0246 a0001c0001t0009g0245 a0004c0005t0011g0247 a0001c0001t0005g0246 a0001c0001t0009g0245 a0004c0005t0011g0247	3	366	0.0082	19	c.337 others(34): Show c.337-809_337-808insTATACTTGGGACAGGCTGA	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar

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