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
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(26): Show AGGGGGTGGGGGGAGGGGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0184 a0001c0002t0004g0184	1	41	0.0244	33	c.-1- others(46): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCCCCTCCCCCCACCCC C	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(26): Show AGGGGGTGGGGGGGAGGGGGGGGGCGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	41	0.0244	33	c.-1- others(46): Show c.-1-977_-1-976insCCCCCCCCCGCCCCCCCCCTCCCCCCCACCCC C	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(26): Show AGGGGGTGGGGGGGAGGGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	41	0.0244	33	c.-1- others(46): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCCCTCCCCCCCACCCC C	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0168 a0001c0002t0003g0168	1	53	0.0189	33	c.-28 others(44): Show c.-2803_-2802insTATATATATATATATATATATTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0017 a0001c0002t0006g0017	1	53	0.0189	33	c.-28 others(44): Show c.-2803_-2802insTATATATATATATATATTTTTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CCCTTTCT others(26): Show CCCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0323 a0001c0001t0032g0323	1	20	0.0500	33	c.25 others(44): Show c.2535_*2536insAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGG	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16	2535		chr20	TogoVar
SAP130_chr2_127936222_128033059	128003957	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	74	0.0135	33	c.870 others(50): Show c.870-3504_870-3503insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	7/20			chr2	TogoVar
SAR1A_chr10_70142289_70175514	70149547	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0227 a0001c0001t0092g0227	1	24	0.0417	33	c.29 others(44): Show c.2928_*2929insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7	2928		chr10	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	13	0.0769	33	c.995 others(48): Show c.995-649_995-648insAAAAAAAAAAAAAAATATATATATATATAT ATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(26): Show ATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	13	0.0769	33	c.995 others(48): Show c.995-649_995-648insAAAAAAAAAAAAAAAAATATATATATATAT ATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar
SARDH_chr9_133658560_133743352	133669032	A A	ACCCTCCC others(26): Show ACCCTCCCTCTCCCTCACCCCTCCCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0217	1	217	0.0046	33	c.249 others(52): Show c.2495+1551_2495+1552insAGAGAGAGAGGGAGGGGTGAGGGAGA GGGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669098	C C	CCTTCCCT others(26): Show CCTTCCCTCTCCCCTTACCCTCCCTCTCCCTCAT	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA18980.hp1 NA19067.hp1 HG03492.hp1 NA18980.hp1 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0020 a0002c0002t0001g0002 a0001c0001t0001g0020 a0002c0002t0001g0002	3	259	0.0116	33	c.249 others(52): Show c.2495+1485_2495+1486insATGAGGGAGAGGGAGGGTAAGGGGAG AGGGAAG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669139	T T	TCCCTTAC others(26): Show TCCCTTACCCTCCATCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0002 a0003c0017t0002	a0003c0017t0002g0006 a0003c0017t0002g0006	1	216	0.0046	33	c.249 others(52): Show c.2495+1444_2495+1445insGAGAGGGAGGGTGAGGGAGATGGAGG GTAAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133669212	C C	CTCCCTCT others(26): Show CTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0023 a0004c0023	a0004c0023t0003 a0004c0023t0003	a0004c0023t0003g0004 a0004c0023t0003g0004	1	218	0.0046	33	c.249 others(52): Show c.2495+1371_2495+1372insAGGTGAGGGAGAGGGAGGGTAAGGGG AGAGGGA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133726394	A A	ATAATAAT others(26): Show ATAATAATAATAATAATAATAATAATAATAATAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0001 a0001c0059t0001	a0001c0059t0001g0021 a0001c0059t0001g0021	1	121	0.0083	33	c.915 others(50): Show c.915+3370_915+3371insCTATTATTATTATTATTATTATTATTAT TATTA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SARDH_chr9_133658560_133743352	133726394	A A	ATAATAAT others(26): Show ATAATAATAATAATAATAATAATAATAATAGTAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA18612.hp2 HG00280.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0002 a0001c0001t0001 a0001c0006t0002	a0001c0001t0001g0196 a0001c0006t0002g0148 a0001c0001t0001g0196 a0001c0006t0002g0148	2	122	0.0164	33	c.915 others(50): Show c.915+3370_915+3371insCTACTATTATTATTATTATTATTATTAT TATTA	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	6/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148387628	C C	CTTCCTTC others(26): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0197 a0002c0002t0003g0197	1	314	0.0032	33	c.157 others(50): Show c.157-2504_157-2503insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387636	C C	CTTCCTTC others(26): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03927.hp2 HG02622.hp1 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0010 a0002c0002t0004g0196 a0002c0002t0002g0010 a0002c0002t0004g0196	2	310	0.0065	33	c.157 others(50): Show c.157-2496_157-2495insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387640	C C	CTTCCTTC others(26): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	300	0.0033	33	c.157 others(50): Show c.157-2492_157-2491insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148387642	T T	TCCTTCCT others(26): Show TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0139 a0001c0001t0005g0139	1	319	0.0031	33	c.157 others(50): Show c.157-2492_157-2491insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTC	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	1/19			chr6	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0063 a0003c0008t0001g0063	1	118	0.0085	33	c.386 others(50): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148524121	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0171 a0002c0005t0006g0171	1	57	0.0175	33	c.121 others(52): Show c.1210-1169_1210-1168insATATATATATATATATATATATATAT ATATTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH1_chr6_148337838_148557044	148524121	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0201 a0001c0013t0002g0201	1	57	0.0175	33	c.121 others(52): Show c.1210-1169_1210-1168insATATATATATATATATATATATATAT ATTTTTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789109	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	92	0.0109	33	c.300 others(48): Show c.300+532_300+533insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAG	SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7			chrX	TogoVar
SAT1_chrX_23778173_23791210	23780490	T T	TATAATAT others(26): Show TATAATATATATATATATTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	197	0.0051	33	c.-28 others(44): Show c.-2862_-2861insATAATATATATATATATTATATATATATATATA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		2682		chrX	TogoVar
SBF2_chr11_9773668_10299219	9835631	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0177 a0001c0001t0003g0177	1	33	0.0303	33	c.345 others(52): Show c.3456-3212_3456-3211insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	26/39			chr11	TogoVar
SBNO1_chr12_123284109_123369847	123307020	T T	TAAAAAAA others(26): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0095 a0001c0002t0095	a0001c0002t0095g0259 a0001c0002t0095g0259	1	72	0.0139	33	c.363 others(52): Show c.3630+2289_3630+2290insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	28/31			chr12	TogoVar
SBNO2_chr19_1102638_1179268	1156449	T T	TCCTCACA others(26): Show TCCTCACACACGGCTGCTTGGCAGTCTGGGATTC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0033 a0002c0003t0003g0033	1	202	0.0050	33	c.-12 others(52): Show c.-126-2080_-126-2048dupGAATCCCAGACTGCCAAGCAGCCGTG TGTGAGG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	49	0.0204	33	c.98+ others(50): Show c.98+36510_98+36511insATATATATTTTTTTTTTTTTTTTTTTTT TTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	49	0.0204	33	c.98+ others(50): Show c.98+36510_98+36511insATATATATATATTTTTTTTTTTTTTTTT TTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	49	0.0204	33	c.98+ others(50): Show c.98+36510_98+36511insATATATATATATATATATTTTTTTTTTT TTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0299 a0001c0001t0005g0299	1	49	0.0204	33	c.98+ others(50): Show c.98+36510_98+36511insATATATATATATATATATATATATTTTT TTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78460782	T T	TTCCTTCC others(26): Show TTCCTTCCTTCCTTCCTTCCTTTGGTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0021 a0001c0002t0011g0021	1	332	0.0030	33	c.852 others(50): Show c.852+1441_852+1442insTGGTTTCTTTTCTCCTTCCTTCCTTCCT TCCTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990964	T T	TTTTTTTC others(26): Show TTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG02523.hp2 HG00140.hp1 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0116 a0001c0001t0001g0016 a0001c0001t0001g0116	2	339	0.0059	33	c.-47 others(44): Show c.-4758_-4757insTTTTTTCTCTTTCTCTCTTTCTTTCTTTCTTTC	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4598		chr15	TogoVar
SCARA5_chr8_27864883_27997673	27919241	G G	GGAGGAGG others(26): Show GGAGGAGGACAAGGAGGAAGAGACGGAGGAGGAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02818.hp2 NA19030.hp1 HG02257.hp1 HG02818.hp2 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0005 a0003c0011 a0001c0003 a0001c0005 a0003c0011	a0001c0003t0023 a0001c0005t0013 a0003c0011t0028 a0001c0003t0023 a0001c0005t0013 a0003c0011t0028	a0001c0003t0023g0117 a0001c0005t0013g0132 a0003c0011t0028g0308 a0001c0003t0023g0117 a0001c0005t0013g0132 a0003c0011t0028g0308	3	10	0.3000	33	c.916 others(50): Show c.916+2329_916+2330insGTCCTCCTCCGTCTCTTCCTCCTTGTCC TCCTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27919241	G G	GGAGGAGG others(26): Show GGAGGAGGACGAGGAGGAAGAGACGGAGGAGGAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02559.hp1 others(13): Show HG02055.hp1 HG02258.hp1 HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 NA18522.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0018 a0002c0023 a0003c0011	a0001c0001t0008 a0001c0001t0013 a0001c0001t0024 others(10): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0024 a0001c0001t0025 a0001c0001t0032 a0001c0003t0002 a0001c0003t0026 a0001c0005t0020 a0001c0009t0011 a0001c0018t0007 a0002c0023t0019 a0003c0011t0028 a0003c0011t0034	a0001c0001t0008g0251 a0001c0001t0013g0309 a0001c0001t0024g0133 others(13): Show a0001c0001t0008g0251 a0001c0001t0013g0309 a0001c0001t0024g0133 a0001c0001t0025g0188 a0001c0001t0032g0115 a0001c0001t0032g0119 a0001c0003t0002g0013 a0001c0003t0026g0129 a0001c0005t0020g0012 a0001c0009t0011g0120 a0001c0018t0007g0028 a0001c0018t0007g0029 a0002c0023t0019g0011 a0003c0011t0028g0307 a0003c0011t0028g0310 a0003c0011t0034g0134	16	23	0.6957	33	c.916 others(50): Show c.916+2329_916+2330insGTCCTCCTCCGTCTCTTCCTCCTCGTCC TCCTC	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	4/8			chr8	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01943.hp1 HG01346.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0026 a0002c0002t0004 a0002c0002t0026	a0002c0002t0004g0290 a0002c0002t0026g0291 a0002c0002t0004g0290 a0002c0002t0026g0291	2	167	0.0120	33	c.354 others(48): Show c.354+706_354+707insTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCIN_chr7_12565720_12665182	12578909	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01169.hp2 HG01192.hp2 others(6): Show HG00140.hp1 HG01169.hp2 HG01192.hp2 HG03710.hp1 HG03834.hp1 NA18946.hp1 NA18965.hp2 NA19009.hp1 NA19012.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0002c0002 a0012c0018 a0001c0001 a0002c0002 a0012c0018	a0001c0001t0027 a0002c0002t0001 a0002c0002t0002 others(6): Show a0001c0001t0027 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0012 a0002c0002t0140 a0002c0002t0150 a0002c0002t0178 a0012c0018t0002	a0001c0001t0027g0042 a0002c0002t0001g0304 a0002c0002t0002g0301 others(6): Show a0001c0001t0027g0042 a0002c0002t0001g0304 a0002c0002t0002g0301 a0002c0002t0005g0319 a0002c0002t0012g0303 a0002c0002t0140g0300 a0002c0002t0150g0318 a0002c0002t0178g0299 a0012c0018t0002g0302	9	174	0.0517	33	c.354 others(48): Show c.354+706_354+707insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SCIN	ENSG00000006747.15	transcript	ENST00000297029.10	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18974.hp1 NA18979.hp2 NA18943.hp2 NA18974.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0197 a0001c0001t0001g0240 a0001c0004t0001g0112 a0001c0001t0001g0197 a0001c0001t0001g0240 a0001c0004t0001g0112	3	80	0.0375	33	c.687 others(50): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCMH1_chr1_41022202_41247306	41053119	T T	TGTTGGTC others(26): Show TGTTGGTCAGGCTGGTCTCGAACTCCCGACCTTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(268): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0006 a0002c0005 others(3): Show a0001c0001 a0001c0006 a0002c0005 a0003c0002 a0004c0004 a0005c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0006t0011 a0002c0005t0006 a0003c0002t0001 a0004c0004t0001 a0005c0003t0002	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(268): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0002g0006 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0004g0244 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0261 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0271 a0001c0001t0004g0281 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0287 a0001c0001t0004g0289 a0001c0001t0004g0292 a0001c0001t0004g0295 a0001c0001t0005g0245 a0001c0001t0005g0252 a0001c0001t0005g0262 a0001c0001t0005g0265 a0001c0001t0005g0266 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0272 a0001c0001t0005g0273 a0001c0001t0005g0274 a0001c0001t0005g0275 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0280 a0001c0001t0005g0282 a0001c0001t0005g0288 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0296 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0006g0045 a0001c0001t0006g0056 a0001c0001t0006g0138 a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0006g0167 a0001c0001t0006g0168 a0001c0001t0006g0169 a0001c0001t0006g0170 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0006g0196 a0001c0001t0006g0239 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0001t0006g0299 a0001c0001t0006g0300 a0001c0001t0006g0301 a0001c0001t0006g0302 a0001c0001t0006g0303 a0001c0001t0007g0159 a0001c0001t0007g0175 a0001c0001t0007g0176 a0001c0001t0007g0177 a0001c0001t0008g0002 a0001c0001t0008g0003 a0001c0001t0008g0004 a0001c0001t0009g0005 a0001c0001t0010g0001 a0001c0001t0012g0219 a0001c0001t0013g0151 a0001c0006t0011g0286 a0002c0005t0006g0108 a0003c0002t0001g0146 a0004c0004t0001g0046 a0005c0003t0002g0074	271	302	0.8974	33	c.110 others(52): Show c.1106-4230_1106-4229insCAAGGTCGGGAGTTCGAGACCAGCCT GACCAAC	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	10/15			chr1	TogoVar
SCN11A_chr3_38840764_39056944	39043938	T T	TGTCCCAA others(26): Show TGTCCCAAAAGATCTCATATATCCCATAAATGAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0309 a0001c0007t0005g0309	1	312	0.0032	33	c.-40 others(52): Show c.-404+7890_-404+7922dupTTCATTTATGGGATATATGAGATCTT TTGGGAC	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	1/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166039097	T T	TTACTATT others(26): Show TTACTATTAAAAGGTGATGCATTTTCATTAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0027 a0002c0002t0027	a0002c0002t0027g0168 a0002c0002t0027g0168	1	354	0.0028	33	c.258 others(50): Show c.2589+293_2589+325dupTTTTTAATGAAAATGCATCACCTTTTAA TAGTA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	17/28			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291528	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	280	0.0036	33	c.-51 others(50): Show c.-51-4245_-51-4244insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTCCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166464095	A A	ATATATAT others(26): Show ATATATATACGACATACATATGTGTATATATACG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG02083.hp2 others(22): Show HG00597.hp1 HG00673.hp1 HG02083.hp2 HG02523.hp2 NA18942.hp2 NA18947.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18995.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19085.hp1	a0004 a0011 a0012 a0004 a0011 a0012	a0004c0004 a0011c0015 a0012c0014 a0004c0004 a0011c0015 a0012c0014	a0004c0004t0005 a0004c0004t0018 a0011c0015t0005 others(2): Show a0004c0004t0005 a0004c0004t0018 a0011c0015t0005 a0011c0015t0019 a0012c0014t0001	a0004c0004t0005g0016 a0004c0004t0005g0265 a0004c0004t0005g0267 others(21): Show a0004c0004t0005g0016 a0004c0004t0005g0265 a0004c0004t0005g0267 a0004c0004t0005g0268 a0004c0004t0005g0270 a0004c0004t0005g0271 a0004c0004t0005g0272 a0004c0004t0005g0273 a0004c0004t0005g0274 a0004c0004t0005g0275 a0004c0004t0005g0276 a0004c0004t0005g0278 a0004c0004t0005g0281 a0004c0004t0005g0282 a0004c0004t0005g0283 a0004c0004t0005g0284 a0004c0004t0005g0287 a0004c0004t0018g0285 a0004c0004t0018g0286 a0011c0015t0005g0266 a0011c0015t0005g0269 a0011c0015t0019g0279 a0011c0015t0019g0280 a0012c0014t0001g0277	25	392	0.0638	33	c.941 others(50): Show c.941+1334_941+1366dupCGTATATATACACATATGTATGTCGTAT ATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	9/25			chr2	TogoVar
SCP2_chr1_52922276_53056698	53037960	C C	CATACACA others(26): Show CATACACACACACACAGATCCAGATCCTGTCTCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02109.hp1 others(4): Show HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0014 a0001c0001t0006g0031 a0001c0001t0006g0034 others(4): Show a0001c0001t0002g0014 a0001c0001t0006g0031 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0038	7	278	0.0252	33	c.133 others(50): Show c.1339-956_1339-955insTACACACACACACAGATCCAGATCCTGT CTCTA	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43199087	G G	GTCTGTCT others(26): Show GTCTGTCTGCTGTCTGGGGCAGTTTGTCTGTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(138): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18948.hp1 NA18950.hp2 NA18954.hp1 NA18966.hp1 NA18969.hp2 NA18971.hp1 NA18983.hp2 NA18990.hp2 NA18994.hp1 NA18995.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19079.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0011 a0012 a0015 a0016	a0001c0003 a0001c0004 a0001c0006 others(36): Show a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0012 a0001c0013 a0001c0022 a0001c0035 a0001c0038 a0001c0039 a0001c0040 a0001c0043 a0001c0044 a0001c0045 a0001c0051 a0001c0053 a0001c0054 a0001c0055 a0002c0002 a0002c0005 a0002c0014 a0002c0025 a0002c0046 a0002c0052 a0003c0001 a0003c0007 a0004c0011 a0004c0047 a0004c0048 a0005c0016 a0005c0030 a0007c0023 a0007c0041 a0008c0017 a0011c0058 a0012c0032 a0015c0057 a0016c0036	a0001c0003t0003 a0001c0003t0006 a0001c0003t0052 others(71): Show a0001c0003t0003 a0001c0003t0006 a0001c0003t0052 a0001c0003t0058 a0001c0004t0005 a0001c0004t0016 a0001c0004t0026 a0001c0004t0035 a0001c0004t0036 a0001c0004t0039 a0001c0004t0082 a0001c0006t0012 a0001c0006t0015 a0001c0006t0018 a0001c0006t0069 a0001c0006t0080 a0001c0008t0030 a0001c0010t0031 a0001c0010t0068 a0001c0010t0070 a0001c0010t0085 a0001c0010t0086 a0001c0012t0003 a0001c0012t0041 a0001c0012t0056 a0001c0012t0090 a0001c0013t0005 a0001c0013t0034 a0001c0022t0010 a0001c0035t0005 a0001c0038t0059 a0001c0039t0038 a0001c0040t0065 a0001c0043t0010 a0001c0044t0033 a0001c0045t0003 a0001c0051t0015 a0001c0053t0057 a0001c0054t0028 a0001c0055t0003 a0002c0002t0002 a0002c0002t0010 a0002c0002t0011 a0002c0002t0013 a0002c0002t0023 a0002c0002t0055 a0002c0002t0062 a0002c0005t0074 a0002c0014t0014 a0002c0014t0025 a0002c0014t0072 a0002c0025t0032 a0002c0025t0067 a0002c0046t0063 a0002c0052t0002 a0003c0001t0003 a0003c0001t0079 a0003c0007t0002 a0003c0007t0042 a0004c0011t0006 a0004c0047t0060 a0004c0048t0066 a0005c0016t0002 a0005c0016t0073 a0005c0030t0014 a0007c0023t0076 a0007c0023t0087 a0007c0041t0075 a0008c0017t0023 a0008c0017t0053 a0011c0058t0005 a0012c0032t0002 a0015c0057t0071 a0016c0036t0002	a0001c0003t0003g0001 a0001c0003t0003g0034 a0001c0003t0003g0039 others(136): Show a0001c0003t0003g0001 a0001c0003t0003g0034 a0001c0003t0003g0039 a0001c0003t0003g0053 a0001c0003t0003g0054 a0001c0003t0003g0076 a0001c0003t0003g0085 a0001c0003t0003g0089 a0001c0003t0003g0122 a0001c0003t0003g0126 a0001c0003t0003g0134 a0001c0003t0003g0140 a0001c0003t0003g0144 a0001c0003t0003g0212 a0001c0003t0003g0215 a0001c0003t0003g0224 a0001c0003t0003g0227 a0001c0003t0003g0230 a0001c0003t0003g0265 a0001c0003t0006g0132 a0001c0003t0006g0159 a0001c0003t0052g0185 a0001c0003t0058g0165 a0001c0004t0005g0077 a0001c0004t0005g0119 a0001c0004t0005g0123 a0001c0004t0005g0180 a0001c0004t0005g0232 a0001c0004t0005g0251 a0001c0004t0016g0008 a0001c0004t0016g0015 a0001c0004t0026g0016 a0001c0004t0035g0248 a0001c0004t0036g0237 a0001c0004t0039g0178 a0001c0004t0082g0276 a0001c0006t0012g0149 a0001c0006t0012g0193 a0001c0006t0012g0229 a0001c0006t0015g0005 a0001c0006t0018g0063 a0001c0006t0018g0166 a0001c0006t0069g0023 a0001c0006t0080g0273 a0001c0008t0030g0010 a0001c0010t0031g0006 a0001c0010t0068g0070 a0001c0010t0070g0037 a0001c0010t0085g0270 a0001c0010t0086g0275 a0001c0012t0003g0096 a0001c0012t0041g0155 a0001c0012t0056g0125 a0001c0012t0090g0277 a0001c0013t0005g0080 a0001c0013t0005g0098 a0001c0013t0005g0117 a0001c0013t0034g0097 a0001c0022t0010g0175 a0001c0035t0005g0208 a0001c0038t0059g0128 a0001c0039t0038g0136 a0001c0040t0065g0150 a0001c0043t0010g0182 a0001c0044t0033g0211 a0001c0045t0003g0052 a0001c0051t0015g0013 a0001c0053t0057g0235 a0001c0054t0028g0017 a0001c0055t0003g0138 a0002c0002t0002g0027 a0002c0002t0002g0035 a0002c0002t0002g0068 a0002c0002t0002g0072 a0002c0002t0002g0078 a0002c0002t0002g0083 a0002c0002t0002g0095 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0107 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0145 a0002c0002t0002g0151 a0002c0002t0002g0158 a0002c0002t0002g0163 a0002c0002t0002g0187 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0223 a0002c0002t0002g0249 a0002c0002t0002g0263 a0002c0002t0010g0112 a0002c0002t0010g0146 a0002c0002t0011g0003 a0002c0002t0011g0011 a0002c0002t0011g0012 a0002c0002t0013g0050 a0002c0002t0013g0104 a0002c0002t0013g0169 a0002c0002t0023g0176 a0002c0002t0055g0170 a0002c0002t0062g0184 a0002c0005t0074g0056 a0002c0014t0014g0258 a0002c0014t0025g0129 a0002c0014t0025g0234 a0002c0014t0072g0260 a0002c0025t0032g0018 a0002c0025t0067g0257 a0002c0046t0063g0189 a0002c0052t0002g0058 a0003c0001t0003g0002 a0003c0001t0079g0267 a0003c0007t0002g0067 a0003c0007t0002g0082 a0003c0007t0002g0226 a0003c0007t0042g0209 a0004c0011t0006g0064 a0004c0011t0006g0087 a0004c0011t0006g0143 a0004c0011t0006g0167 a0004c0011t0006g0236 a0004c0047t0060g0055 a0004c0048t0066g0241 a0005c0016t0002g0024 a0005c0016t0073g0130 a0005c0030t0014g0238 a0005c0030t0014g0239 a0007c0023t0076g0071 a0007c0023t0087g0268 a0007c0041t0075g0233 a0008c0017t0023g0156 a0008c0017t0053g0121 a0011c0058t0005g0262 a0012c0032t0002g0019 a0015c0057t0071g0148 a0016c0036t0002g0133	141	266	0.5301	33	c.49 others(44): Show c.4909_*4910insAAGACAGACAAACTGCCCCAGACAGCAGACAGA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	22/22	4909		chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0006 a0003c0008t0006	a0003c0008t0006g0188 a0003c0008t0006g0188	1	121	0.0083	33	c.120 others(50): Show c.1208-967_1208-966insATATATATATATATATATATATATATAT ATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0010 a0003c0012t0010	a0003c0012t0010g0146 a0003c0012t0010g0146	1	121	0.0083	33	c.120 others(50): Show c.1208-967_1208-966insAAATATATATATATATATATATATATAT ATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0008 a0008	a0008c0016 a0008c0016	a0008c0016t0007 a0008c0016t0007	a0008c0016t0007g0215 a0008c0016t0007g0215	1	121	0.0083	33	c.120 others(50): Show c.1208-967_1208-966insAAAAAAAAATATATATATATATATATAT ATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE3_chr6_35208956_35258079	35226480	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	36	0.0278	33	c.86- others(48): Show c.86-1078_86-1077insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar

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