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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
RYR2_chr1_237037184_237838988	237308043	C C	CGGGACTT others(41): Show CGGGACTTGCTGAGACTCCATCTTGAGTGAGGGCTAGGAAAATGAGGCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG00738.hp1 HG00741.hp2	a0001 a0002 a0001 a0002	a0001c0041 a0002c0039 a0001c0041 a0002c0039	a0001c0041t0006 a0002c0039t0036 a0001c0041t0006 a0002c0039t0036	a0001c0041t0006g0027 a0002c0039t0036g0030 a0001c0041t0006g0027 a0002c0039t0036g0030	2	100	0.0200	48	c.169 others(67): Show c.169-22833_169-22832insGACTTGCTGAGACTCCATCTTGAGTG AGGGCTAGGAAAATGAGGCTGG		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237481110	A A	ATGTATAT others(41): Show ATGTATATATATATATATATGTATATACATATATGTATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0029 a0001c0005t0006g0029	1	100	0.0100	48	c.170 others(69): Show c.1709-10695_1709-10694insGTATATATATATATATATGTATAT ACATATATGTATATATATATATGT		RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	939398	G G	GCCTCCCC others(41): Show GCCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01891.hp1 HG02647.hp2 others(6): Show HG01192.hp1 HG01891.hp1 HG02647.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG03486.hp1 HG03486.hp2 NA19240.hp1	a0007 a0011 a0016 a0007 a0011 a0016	a0007c0012 a0011c0035 a0011c0043 others(2): Show a0007c0012 a0011c0035 a0011c0043 a0011c0044 a0016c0028	a0007c0012t0001 a0011c0035t0021 a0011c0043t0001 others(2): Show a0007c0012t0001 a0011c0035t0021 a0011c0043t0001 a0011c0044t0031 a0016c0028t0008	a0007c0012t0001g0009 a0007c0012t0001g0115 a0007c0012t0001g0131 others(4): Show a0007c0012t0001g0009 a0007c0012t0001g0115 a0007c0012t0001g0131 a0011c0035t0021g0267 a0011c0043t0001g0130 a0011c0044t0031g0156 a0016c0028t0008g0268	9	434	0.0207	48	c.119 others(63): Show c.1195+25_1195+72dupCCCCTCATCACCTCCCCAGCCACGGTGAGG ACCCACCCTGGCATGATC		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMHD1_chr20_36885229_36956708	36890396	C C	CCCTTTCT others(41): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01934.hp1 HG02300.hp2 NA19055.hp1 HG01934.hp1 HG02300.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0293 a0001c0001t0029g0296 a0001c0001t0029g0305 a0001c0001t0029g0293 a0001c0001t0029g0296 a0001c0001t0029g0305	3	340	0.0088	48	c.25 others(59): Show c.2535_*2536insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGG		SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	16/16				2535		chr20	TogoVar
SAR1B_chr5_134596149_134637828	134613429	A A	ACTTTTAT others(41): Show ACTTTTATTGCAAATAAGGTCAAATCAAACATTTACAAACTGGTACAAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0186 a0001c0001t0007g0186	1	322	0.0031	48	c.179 others(63): Show c.179-721_179-674dupATTGTACCAGTTTGTAAATGTTTGATTTGA CCTTATTTGCAATAAAAG		SAR1B	ENSG00000152700.14	transcript	ENST00000402673.7	protein_coding	3/6						chr5	TogoVar
SARDH_chr9_133658560_133743352	133668559	C C	CCCCTCAT others(41): Show CCCCTCATCCTCCTCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0004 a0003c0013t0004	a0003c0013t0004g0051 a0003c0013t0004g0051	1	262	0.0038	48	c.249 others(67): Show c.2496-1690_2496-1689insAGGGGGAGGGTAAGGGGAGAGGGAGG GTGAGGGAGAGGAGGATGAGGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133669051	C C	CTCCCTCT others(41): Show CTCCCTCTCTCTCTCCTTCCCTCTCCCTTACCCTCCCTCTCCCTCACCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	262	0.0038	48	c.249 others(67): Show c.2495+1532_2495+1533insAGGTGAGGGAGAGGGAGGGTAAGGGA GAGGGAAGGAGAGAGAGAGGGA		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SARDH_chr9_133658560_133743352	133669114	C C	CCCTCCAT others(41): Show CCCTCCATCTCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	262	0.0038	48	c.249 others(67): Show c.2495+1469_2495+1470insTGAGGGAGAGGGAGGGTGAGGGAGAG GGAGGGTGAGGGGAGATGGAGG		SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20						chr9	TogoVar
SASH1_chr6_148337838_148557044	148449078	C C	CTTTTTTT others(41): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0010	1	322	0.0031	48	c.386 others(65): Show c.386+8686_386+8687insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT		SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	4/19					INFO_REALIGN_3_PRIME	chr6	TogoVar
SASH3_chrX_129774949_129800201	129789105	A A	AAAAGAAA others(41): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	307	0.0033	48	c.300 others(63): Show c.300+531_300+532insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAA		SASH3	ENSG00000122122.10	transcript	ENST00000356892.4	protein_coding	3/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
SBF2_chr11_9773668_10299219	9989055	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0160 a0001c0003t0001g0160	1	224	0.0045	48	c.139 others(65): Show c.1395+441_1395+442insGTATATATATATATATATATATATATAT ATATATATATATATATATAT		SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	13/39						chr11	TogoVar
SBSN_chr19_35518367_35533311	35520356	C C	CTATATAT others(41): Show CTATATATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 NA18994.hp2 HG02040.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0086 a0001c0003t0001g0006 a0001c0003t0001g0086	2	450	0.0044	48	c.31 others(59): Show c.3153_*3154insTATATATATATATATATATATATATATATATATA TATATATATATATA		SBSN	ENSG00000189001.11	transcript	ENST00000452271.7	protein_coding					3010		chr19	TogoVar
SBSPON_chr8_73059543_73098172	73067589	C C	CTATATAT others(41): Show CTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03540.hp2 HG02109.hp1 HG03540.hp2	a0004 a0004	a0004c0004 a0004c0006 a0004c0004 a0004c0006	a0004c0004t0008 a0004c0006t0012 a0004c0004t0008 a0004c0006t0012	a0004c0004t0008g0328 a0004c0006t0012g0086 a0004c0004t0008g0328 a0004c0006t0012g0086	2	414	0.0048	48	c.678 others(63): Show c.678-132_678-131insTATATATATATATATATATATATATATATA TATATATATATATATATA		SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4						chr8	TogoVar
SCAF11_chr12_45914131_45995574	45972897	T T	TATATATA others(41): Show TATATATAGATATATAGATATATATATAGATATATATATAGATATATAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01884.hp2 HG02109.hp2 others(18): Show HG01175.hp2 HG01884.hp2 HG02109.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0009 a0001c0004t0003 a0001c0004t0009	a0001c0004t0003g0002 a0001c0004t0003g0020 a0001c0004t0003g0021 others(13): Show a0001c0004t0003g0002 a0001c0004t0003g0020 a0001c0004t0003g0021 a0001c0004t0003g0133 a0001c0004t0003g0277 a0001c0004t0003g0278 a0001c0004t0003g0279 a0001c0004t0003g0280 a0001c0004t0003g0285 a0001c0004t0003g0286 a0001c0004t0003g0287 a0001c0004t0003g0288 a0001c0004t0003g0289 a0001c0004t0003g0295 a0001c0004t0009g0282 a0001c0004t0009g0283	21	344	0.0611	48	c.-21 others(65): Show c.-21-8710_-21-8709insCTATATATCTATATATATATCTATATAT ATATCTATATATCTATATAT		SCAF11	ENSG00000139218.18	transcript	ENST00000369367.8	protein_coding	1/14						chr12	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(41): Show TACACACACACACATATACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	382	0.0026	48	c.15 others(59): Show c.1585_*1586insACACACACACACATATACACACACACACACACAC ACACACACACACAC		SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding					1343		chr19	TogoVar
SCAF1_chr19_49637209_49663642	49659984	T T	TACACACA others(41): Show TACACACACACACATATATACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0011 a0003c0004t0002g0011	1	382	0.0026	48	c.15 others(59): Show c.1585_*1586insACACACACACACATATATACACACACACACACAC ACACACACACACAC		SCAF1	ENSG00000126461.15	transcript	ENST00000360565.8	protein_coding					1343		chr19	TogoVar
SCAMP1_chr5_78355617_78485739	78460770	T T	TTCCCTCC others(41): Show TTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02622.hp2 HG03209.hp1 others(3): Show HG00741.hp2 HG02622.hp2 HG03209.hp1 NA18522.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0131 a0001c0001t0006g0132 others(3): Show a0001c0001t0006g0003 a0001c0001t0006g0131 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0136 a0001c0001t0006g0137	6	332	0.0181	48	c.852 others(65): Show c.852+1411_852+1412insCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCC		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460816	C C	CTTTCTTT others(41): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18612.hp2 HG02080.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0257 a0001c0001t0001g0248 a0001c0001t0001g0257	2	332	0.0060	48	c.852 others(65): Show c.852+1454_852+1455insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTCTTTCTTT		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8						chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78460820	C C	CCTTCTTT others(41): Show CCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	332	0.0030	48	c.852 others(65): Show c.852+1461_852+1462insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTCTTTCTTTCTTTCTT		SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTCTTTCT others(41): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	370	0.0027	48	c.-47 others(59): Show c.-4728_-4727insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT		SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding					4568		chr15	TogoVar
SCFD2_chr4_52867982_53371061	53207474	A A	AAACTCAA others(41): Show AAACTCAATATTAGAAACTGTTAATTAGTTATATCAGGAAAAAATCACT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0090 a0002c0002t0011g0090	1	162	0.0062	48	c.131 others(69): Show c.1312-61893_1312-61892insAGTGATTTTTTCCTGATATAACTA ATTAACAGTTTCTAATATTGAGTT		SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8						chr4	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA20905.hp1 HG03688.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0168 a0001c0001t0002g0025 a0001c0001t0001g0168 a0001c0001t0002g0025	2	415	0.0048	48	c.226 others(67): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATATATAT		SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03195.hp1 NA18906.hp1 others(5): Show HG01243.hp1 HG03195.hp1 NA18906.hp1 NA18947.hp2 NA18971.hp2 NA18992.hp1 NA19010.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0058 others(5): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0058 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0343 a0001c0001t0001g0389 a0001c0001t0001g0392	8	415	0.0193	48	c.226 others(67): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATATATGTAT		SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp1 HG01175.hp1 others(9): Show HG00738.hp1 HG01167.hp1 HG01175.hp1 HG01433.hp2 HG01516.hp2 HG01981.hp2 HG04184.hp2 NA18612.hp1 NA19002.hp2 NA19006.hp2 NA19058.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0114 others(9): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0114 a0001c0001t0001g0120 a0001c0001t0001g0162 a0001c0001t0001g0229 a0001c0001t0001g0243 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0325 a0001c0001t0001g0340 a0001c0001t0001g0357	12	415	0.0289	48	c.226 others(67): Show c.226+13394_226+13395insATATATATATATATATATATATATAT ATATATATATATATGTATGTAT		SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATGTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	415	0.0024	48	c.226 others(67): Show c.226+13394_226+13395insATATATATATATATATATATATGTAT ATATATATATATATATATGTAT		SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB2A2_chr11_62265158_62278160	62277853	T T	TCCCTCCC others(41): Show TCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	390	0.0026	48	c.48 others(59): Show c.4858_*4859insCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCC		SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding					4694		chr11	TogoVar
SCML1_chrX_17732493_17759985	17744950	A A	AGAATGAA others(41): Show AGAATGAAGAGTTATTATACTGAAGTGTAATGGCTATTTACTCCTTACT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18940.hp1 NA18947.hp1 others(6): Show NA18939.hp1 NA18940.hp1 NA18947.hp1 NA18972.hp1 NA19003.hp2 NA19062.hp1 NA19065.hp1 NA19075.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0049 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0056	9	281	0.0320	48	c.34- others(61): Show c.34-505_34-458dupGAATGAAGAGTTATTATACTGAAGTGTAATGG CTATTTACTCCTTACT		SCML1	ENSG00000047634.15	transcript	ENST00000380041.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chrX	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(41): Show GTGTATATATATATGTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0169 a0002c0001t0001g0169	1	372	0.0027	48	c.186 others(67): Show c.1868-3535_1868-3534insTATATATATATATATATATATATATA TACACACACATATATATATACA		SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27						chr3	TogoVar
SCN7A_chr2_166398573_166499249	166414255	G G	GATATATA others(41): Show GATATATATACACACACATATATATATATATACACACACATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp2 NA19083.hp1 NA19083.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0014 a0001c0001 a0012c0014	a0001c0001t0003 a0012c0014t0001 a0001c0001t0003 a0012c0014t0001	a0001c0001t0003g0349 a0012c0014t0001g0285 a0001c0001t0003g0349 a0012c0014t0001g0285	2	394	0.0051	48	c.341 others(67): Show c.3415-1182_3415-1135dupATATATATATGTGTGTGTATATATAT ATATATGTGTGTGTATATATAT		SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25						chr2	TogoVar
SCNN1G_chr16_23177745_23221883	23204290	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0264 a0001c0002t0003g0264	1	320	0.0031	48	c.107 others(67): Show c.1078-5419_1078-5418insCACATACATATATATATATATATATA TATATATATATATATATATATA		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23218189	A A	ATATATAT others(41): Show ATATATATACGTATATATATACATATATATATATATGTATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0173 a0001c0003t0002g0173	1	320	0.0031	48	c.27 others(59): Show c.2720_*2721insTATATATACGTATATATATACATATATATATATA TGTATATATATACG		SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding					1307		chr16	TogoVar
SCTR_chr2_119434843_119529483	119444926	C C	CACATATA others(41): Show CACATATATTCGTACGAATATATATACATATATTCGTACGAATATATAT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0038 a0001c0002t0004g0038	1	290	0.0035	48	c.114 others(67): Show c.1140+1785_1140+1832dupATATATATTCGTACGAATATATGTAT ATATATTCGTACGAATATATGT		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12						chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43335805	A A	ATGATGAT others(41): Show ATGATGATGATGATGGTGATGATGATAATGATGATGGTGGTGATGATGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02451.hp1 others(7): Show HG01243.hp2 HG01891.hp2 HG02451.hp1 HG02922.hp2 HG03098.hp1 HG03579.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0017 a0018	a0001c0008 a0001c0010 a0001c0018 others(5): Show a0001c0008 a0001c0010 a0001c0018 a0002c0002 a0002c0009 a0004c0028 a0017c0061 a0018c0060	a0001c0008t0020 a0001c0010t0076 a0001c0018t0008 others(7): Show a0001c0008t0020 a0001c0010t0076 a0001c0018t0008 a0002c0002t0005 a0002c0002t0012 a0002c0002t0042 a0002c0009t0089 a0004c0028t0009 a0017c0061t0001 a0018c0060t0005	a0001c0008t0020g0030 a0001c0010t0076g0040 a0001c0018t0008g0029 others(7): Show a0001c0008t0020g0030 a0001c0010t0076g0040 a0001c0018t0008g0029 a0002c0002t0005g0042 a0002c0002t0012g0045 a0002c0002t0042g0041 a0002c0009t0089g0269 a0004c0028t0009g0044 a0017c0061t0001g0039 a0018c0060t0005g0038	10	280	0.0357	48	c.220 others(65): Show c.220+3298_220+3299insCCATCATCACCACCATCATCATTATCAT CATCACCATCATCATCATCA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	2/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339677	C C	CTCTATCC others(41): Show CTCTATCCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0010 a0010	a0010c0029 a0010c0029	a0010c0029t0007 a0010c0029t0007	a0010c0029t0007g0095 a0010c0029t0007g0095	1	280	0.0036	48	c.89- others(61): Show c.89-443_89-442insATGAGGAGAGTGGGGGGAGGGTTGGAGCTATG CTTGTGGGGGGATAGA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339728	A A	ACCCCCCA others(41): Show ACCCCCCACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0027 a0002c0027	a0002c0027t0001 a0002c0027t0001	a0002c0027t0001g0160 a0002c0027t0001g0160	1	280	0.0036	48	c.89- others(61): Show c.89-541_89-494dupATAGAATGAGGAGAGTGGGGGGAGGGTTGGAG CTATGCTTGTGGGGGG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21						chr22	TogoVar
SCYGR2_chr2_227593893_227604255	227599009	T T	TGGTGGTG others(41): Show TGGTGGTGGCTGCGGTGGTGGCTGCGGTGGTGGCTGTGGTGGTGGCTGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03540.hp1 HG03540.hp1	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0000 a0017c0024t0000	a0017c0024t0000g0000 a0017c0024t0000g0000	1	469	0.0021	48	c.159 others(55): Show c.159_160insGGCTGCGGTGGTGGCTGCGGTGGTGGCTGCGGTGGTGG CTGTGGTGGT	p.Gly others(11): Show p.Gly38_Gly53dup	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding	1/1	160/363	160/363	54/120		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCYGR6_chr2_227719440_227729757	227724662	A A	ACAGCCAC others(41): Show ACAGCCACCACCGCAGCCACCACCACAGCCACCACTGCAGCCACCACCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp1 HG02976.hp2 HG01109.hp1 HG02976.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0000 a0008c0011t0000	a0008c0011t0000g0000 a0008c0011t0000g0000	2	455	0.0044	48	c.48_ others(53): Show c.48_95dupCGGTGGTGGCTGCAGTGGTGGCTGTGGTGGTGGCTGCGGT GGTGGCTG	p.Cys others(59): Show p.Cys32_Gly33insGlyGlyGlyCysSerGlyGlyCysGlyGlyGlyC ysGlyGlyGlyCys	SCYGR6	ENSG00000284725.1	transcript	ENST00000641918.1	protein_coding	1/1	95/318	95/318	32/105			chr2	TogoVar
SCYGR7_chr2_227723335_227733625	227724662	A A	ACAGCCAC others(41): Show ACAGCCACCACCGCAGCCACCACCACAGCCACCACTGCAGCCACCACCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02976.hp1 HG01109.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	456	0.0044	48	c.-36 others(59): Show c.-3673_-3672insCAGCCACCACCGCAGCCACCACCACAGCCACCAC TGCAGCCACCACCG		SCYGR7	ENSG00000284718.1	transcript	ENST00000641700.1	protein_coding					3672		chr2	TogoVar
SCYGR8_chr2_227740894_227751220	227749841	A A	ATCCTTCC others(41): Show ATCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp2 NA19000.hp2 NA18995.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	457	0.0044	48	c.36 others(59): Show c.3621_*3622insTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT		SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding					3622		chr2	TogoVar
SCYGR8_chr2_227740894_227751220	227749841	A A	ATCCTTCC others(41): Show ATCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG01255.hp1 HG01361.hp2 others(40): Show HG00438.hp1 HG01255.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01884.hp2 HG02056.hp1 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02683.hp1 HG02735.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03579.hp1 HG03669.hp2 HG03710.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18959.hp2 NA18968.hp1 NA18970.hp1 NA18972.hp2 NA18975.hp1 NA18981.hp1 NA18990.hp1 NA18992.hp1 NA19004.hp1 NA19055.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19087.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0004c0004 a0005c0005	a0001c0001t0000 a0001c0006t0000 a0002c0002t0000 others(2): Show a0001c0001t0000 a0001c0006t0000 a0002c0002t0000 a0004c0004t0000 a0005c0005t0000	a0001c0001t0000g0000 a0001c0006t0000g0000 a0002c0002t0000g0000 others(2): Show a0001c0001t0000g0000 a0001c0006t0000g0000 a0002c0002t0000g0000 a0004c0004t0000g0000 a0005c0005t0000g0000	43	457	0.0941	48	c.36 others(59): Show c.3621_*3622insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCT		SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding					3622		chr2	TogoVar
SCYGR8_chr2_227740894_227751220	227749851	C C	CCTTCCTT others(41): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	1	457	0.0022	48	c.36 others(59): Show c.3631_*3632insCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTT		SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding					3632		chr2	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(41): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	334	0.0030	48	c.61- others(65): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTT		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
SDK1_chr7_3296252_4274000	4074884	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTCTCTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0093 a0001c0093	a0001c0093t0006 a0001c0093t0006	a0001c0093t0006g0053 a0001c0093t0006g0053	1	116	0.0086	48	c.301 others(67): Show c.3011-2113_3011-2112insCTCTCTCTCTCTCTCTCTCTGTGTGT GTATATATATATATATATATAT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4074884	C C	CTCTCTCT others(41): Show CTCTCTCTCTCTCTCTCTGTGTGTGTGTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0028 a0001c0011t0008g0028	1	116	0.0086	48	c.301 others(67): Show c.3011-2113_3011-2112insCTCTCTCTCTCTCTCTGTGTGTGTGT GTGTGTATATATATATATATAT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	20/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355159	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0010 a0004c0011t0010	a0004c0011t0010g0176 a0004c0011t0010g0176	1	204	0.0049	48	c.559 others(67): Show c.5594-2523_5594-2522insATATATATATATATATATATATATAT ATATATATATATATATATATAT		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73355169	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0043 a0001c0010t0043	a0001c0010t0043g0069 a0001c0010t0043g0069	1	204	0.0049	48	c.559 others(67): Show c.5594-2533_5594-2532insGTATGTGTATATATATATATATATAT ATATATATATATATATATATAT		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(41): Show ATATATATATATATATATGTATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0058 a0005c0012t0058	a0005c0012t0058g0040 a0005c0012t0058g0040	1	204	0.0049	48	c.559 others(67): Show c.5594-2538_5594-2537insAAAAAATATATATATATATATATATA TATACATATATATATATATATA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(41): Show ATATATATATATATATATGTATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03579.hp1 HG04115.hp2 others(1): Show HG03195.hp1 HG03579.hp1 HG04115.hp2 HG04204.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0023 a0001c0035 others(1): Show a0001c0002 a0001c0023 a0001c0035 a0004c0080	a0001c0002t0001 a0001c0023t0008 a0001c0035t0056 others(1): Show a0001c0002t0001 a0001c0023t0008 a0001c0035t0056 a0004c0080t0054	a0001c0002t0001g0137 a0001c0023t0008g0034 a0001c0035t0056g0065 others(1): Show a0001c0002t0001g0137 a0001c0023t0008g0034 a0001c0035t0056g0065 a0004c0080t0054g0080	4	204	0.0196	48	c.559 others(67): Show c.5594-2538_5594-2537insAAAAAAAATATATATATATATATATA TATACATATATATATATATATA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(41): Show ATATATATATATATATATGTATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01884.hp2 HG03041.hp2 HG01346.hp1 HG01884.hp2 HG03041.hp2	a0002 a0004 a0002 a0004	a0002c0028 a0004c0011 a0004c0066 a0002c0028 a0004c0011 a0004c0066	a0002c0028t0060 a0004c0011t0018 a0004c0066t0018 a0002c0028t0060 a0004c0011t0018 a0004c0066t0018	a0002c0028t0060g0018 a0004c0011t0018g0187 a0004c0066t0018g0031 a0002c0028t0060g0018 a0004c0011t0018g0187 a0004c0066t0018g0031	3	204	0.0147	48	c.559 others(67): Show c.5594-2538_5594-2537insAAAAAAAAAATATATATATATATATA TATACATATATATATATATATA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44						chr17	TogoVar
SEC23IP_chr10_119887730_119949657	119949591	A A	AATCTTTG others(41): Show AATCTTTGGAACTTTTTTCCTTTACTAGAATGTGAATTGTTTTCATGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0108 a0002c0002t0022g0108	1	400	0.0025	48	c.90 others(59): Show c.9026_*9027insATCTTTGGAACTTTTTTCCTTTACTAGAATGTGA ATTGTTTTCATGTT		SEC23IP	ENSG00000107651.15	transcript	ENST00000369075.8	protein_coding					4935		chr10	TogoVar

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