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
SYCP2L_chr6_10882052_10979309	10907892	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18988.hp1 HG02559.hp2 NA18988.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0154 a0002c0003t0001g0312 a0001c0001t0002g0154 a0002c0003t0001g0312	2	19	0.1053	22	c.819 others(37): Show c.819+226_819+227insTTTTTTTTTTTTTTTTTTTTTT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	10/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYCP2L_chr6_10882052_10979309	10911894	C C	CTTTCTTT others(15): Show CTTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0132 a0004c0005t0001g0132	1	24	0.0417	22	c.919 others(37): Show c.919-776_919-775insCTTTTTTTTTTTTTTTTTTTTT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYCP2L_chr6_10882052_10979309	10967454	G G	GGGGTGTG others(15): Show GGGGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	97	0.0103	22	c.37 others(39): Show c.37+3612_*37+3613insGGTGTGTGTGTGTGTGTGTGTG	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYCP2L_chr6_10882052_10979309	10978305	A A	ATATATAT others(15): Show ATATATATATATATAATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0242	1	269	0.0037	22	c.43 others(33): Show c.4391_*4392insTATATATATATATAATTTTTTT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding		3997		chr6	TogoVar
SYCP2L_chr6_10882052_10979309	10978306	T T	TATATATA others(15): Show TATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	202	0.0050	22	c.43 others(33): Show c.4392_*4393insATATATATATATATATATATAA	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding		3998		chr6	TogoVar
SYCP2L_chr6_10882052_10979309	10978310	T T	TATATATA others(15): Show TATATATATATATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0125 a0003c0004t0001g0125	1	300	0.0033	22	c.43 others(33): Show c.4396_*4397insATATATATATATATATATATAA	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding		4002		chr6	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	120	0.0083	22	c.236 others(37): Show c.236-828_236-827insAAAAAAAATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(15): Show ATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	120	0.0083	22	c.236 others(37): Show c.236-828_236-827insAAAAAAAAAAAAAAAATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYDE2_chr1_85151889_85206016	85163445	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	1	79	0.0127	22	c.308 others(41): Show c.3085+1059_3085+1080dupTATATATATATATATATATATA	SYDE2	ENSG00000097096.10	transcript	ENST00000341460.6	protein_coding	6/6			chr1	TogoVar
SYK_chr9_90796819_90903549	90802815	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01106.hp2 others(8): Show HG00642.hp2 HG01074.hp1 HG01106.hp2 HG02280.hp2 HG02486.hp1 HG02976.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0004t0003 a0001c0004t0009 a0001c0004t0019 a0001c0004t0034 a0001c0005t0022 a0001c0009t0035	a0001c0001t0001g0040 a0001c0001t0003g0044 a0001c0001t0005g0041 others(8): Show a0001c0001t0001g0040 a0001c0001t0003g0044 a0001c0001t0005g0041 a0001c0001t0014g0043 a0001c0001t0014g0046 a0001c0004t0003g0049 a0001c0004t0009g0045 a0001c0004t0019g0047 a0001c0004t0034g0050 a0001c0005t0022g0042 a0001c0009t0035g0048	11	14	0.7857	22	c.-42 others(37): Show c.-42+934_-42+935insAAAAAAAAAAAAAAAAAAAAAA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90855011	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03130.hp2 HG02717.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0043 a0001c0001t0006 a0001c0001t0043	a0001c0001t0006g0082 a0001c0001t0043g0218 a0001c0001t0006g0082 a0001c0001t0043g0218	2	25	0.0800	22	c.579 others(39): Show c.579-7188_579-7167dupACACACACACACACACACACAC	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884150	T T	TGTATATA others(15): Show TGTATATATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01891.hp2 HG02451.hp1 others(12): Show HG01081.hp2 HG01891.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02630.hp1 HG02717.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2 HG03540.hp2 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0015 a0001c0004t0003 a0001c0001t0002 a0001c0001t0015 a0001c0004t0003	a0001c0001t0002g0173 a0001c0001t0002g0224 a0001c0001t0002g0225 others(12): Show a0001c0001t0002g0173 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0236 a0001c0001t0015g0087 a0001c0001t0015g0166 a0001c0001t0015g0361 a0001c0004t0003g0326 a0001c0004t0003g0355	15	271	0.0554	22	c.158 others(41): Show c.1582-3597_1582-3596insATATATATATATACACATACGT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884150	T T	TGTGTATA others(15): Show TGTGTATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03579.hp1 HG02258.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0253 a0001c0001t0001g0254	2	258	0.0078	22	c.158 others(41): Show c.1582-3588_1582-3587insTATACACACACGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884150	T T	TGTGTATA others(15): Show TGTGTATATATATATACACATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA20129.hp1 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0065 a0001c0001t0009g0171 a0001c0001t0009g0065 a0001c0001t0009g0171	2	258	0.0078	22	c.158 others(41): Show c.1582-3588_1582-3587insTATACACATACGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884150	T T	TGTGTATA others(15): Show TGTGTATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp1 HG02896.hp1 others(2): Show HG02145.hp1 HG02886.hp1 HG02896.hp1 HG03209.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0001t0055 a0001c0001t0069	a0001c0001t0001g0185 a0001c0001t0005g0165 a0001c0001t0012g0365 others(2): Show a0001c0001t0001g0185 a0001c0001t0005g0165 a0001c0001t0012g0365 a0001c0001t0055g0329 a0001c0001t0069g0360	5	261	0.0192	22	c.158 others(41): Show c.1582-3588_1582-3587insTATATACACACGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884476	C C	CATATACA others(15): Show CATATACACATATGTGTGTACAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01515.hp2 HG00099.hp2 HG01515.hp2	a0001 a0001	a0001c0003 a0001c0011 a0001c0003 a0001c0011	a0001c0003t0008 a0001c0011t0046 a0001c0003t0008 a0001c0011t0046	a0001c0003t0008g0055 a0001c0011t0046g0060 a0001c0003t0008g0055 a0001c0011t0046g0060	2	374	0.0053	22	c.158 others(41): Show c.1582-3270_1582-3269insTACACATATGTGTGTACATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN2_chr3_11999388_12197032	12057287	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	31	0.0323	22	c.377 others(41): Show c.377+52375_377+52396dupGTGTGTGTGTGTGTGTGTGTGT	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYN2_chr3_11999388_12197032	12098856	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	16	0.0625	22	c.378 others(41): Show c.378-41791_378-41770dupTATATATATATATATATATATA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYN3_chr22_32502820_33063381	32665489	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	136	0.0074	22	c.712 others(41): Show c.712-68754_712-68753insTATATATATATATATATATATA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32679839	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0047 a0001c0001t0008g0047	1	6	0.1667	22	c.712 others(41): Show c.712-83104_712-83103insAAAAAAAAAAAAAAAAAAAAAA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32758681	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01433.hp2 others(5): Show HG00140.hp1 HG00741.hp2 HG01433.hp2 HG02738.hp2 HG02922.hp2 HG03098.hp2 HG03704.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0018 a0001c0001t0076	a0001c0001t0001g0008 a0001c0001t0002g0018 a0001c0001t0002g0024 others(5): Show a0001c0001t0001g0008 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0045 a0001c0001t0003g0039 a0001c0001t0003g0157 a0001c0001t0018g0146 a0001c0001t0076g0069	8	18	0.4444	22	c.711 others(43): Show c.711+106233_711+106234insATATATATATATATATATATAT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32869330	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCCCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0170 a0001c0001t0009g0170	1	42	0.0238	22	c.462 others(37): Show c.462-206_462-205insGAGAGAGAGGGAGAGAGAGAGA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	4/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32869330	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	42	0.0238	22	c.462 others(37): Show c.462-227_462-206dupGAGAGAGAGAGAGAGAGAGAGA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	4/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32956041	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG03453.hp1 others(2): Show HG02280.hp2 HG02630.hp1 HG03453.hp1 HG03471.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0010 a0002c0002t0005 others(2): Show a0001c0001t0009 a0001c0001t0010 a0002c0002t0005 a0002c0002t0022 a0002c0002t0051	a0001c0001t0009g0067 a0001c0001t0010g0087 a0002c0002t0005g0089 others(2): Show a0001c0001t0009g0067 a0001c0001t0010g0087 a0002c0002t0005g0089 a0002c0002t0022g0001 a0002c0002t0051g0142	5	43	0.1163	22	c.370 others(41): Show c.370-24561_370-24560insATATATATATATATATATATAT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	3/13			chr22	TogoVar
SYNC_chr1_32674906_32707770	32687843	A A	ATTATTAT others(15): Show ATTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG00738.hp2 others(9): Show HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01168.hp1 HG01261.hp1 HG01358.hp2 HG01496.hp2 HG01928.hp2 HG01943.hp2 HG01981.hp2 HG02293.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0001 a0002c0002t0003g0035 a0002c0002t0003g0205 others(2): Show a0002c0002t0003g0001 a0002c0002t0003g0035 a0002c0002t0003g0205 a0002c0002t0003g0209 a0002c0002t0003g0215	12	315	0.0381	22	c.123 others(41): Show c.1234-3462_1234-3461insATAATAATAATAATAATAATAA	SYNC	ENSG00000162520.15	transcript	ENST00000409190.8	protein_coding	2/4			chr1	TogoVar
SYNDIG1L_chr14_74400899_74431210	74421048	C C	CAAATAGA others(15): Show CAAATAGAACAAATGACCCAATA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	402	0.0025	22	c.-58 others(39): Show c.-58+4842_-58+4863dupTATTGGGTCATTTGTTCTATTT	SYNDIG1L	ENSG00000183379.9	transcript	ENST00000331628.8	protein_coding	1/3			chr14	TogoVar
SYNE1_chr6_152116687_152642362	152179673	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18952.hp2 NA18979.hp2 others(1): Show HG03710.hp2 NA18952.hp2 NA18979.hp2 NA18995.hp1	a0096 a0106 a0113 others(1): Show a0096 a0106 a0113 a0114	a0096c0154 a0106c0088 a0113c0082 others(1): Show a0096c0154 a0106c0088 a0113c0082 a0114c0139	a0096c0154t0006 a0106c0088t0005 a0113c0082t0011 others(1): Show a0096c0154t0006 a0106c0088t0005 a0113c0082t0011 a0114c0139t0019	a0096c0154t0006g0167 a0106c0088t0005g0099 a0113c0082t0011g0060 others(1): Show a0096c0154t0006g0167 a0106c0088t0005g0099 a0113c0082t0011g0060 a0114c0139t0019g0144	4	46	0.0870	22	c.234 others(41): Show c.23460+441_23460+462dupAAAAAAAAAAAAAAAAAAAAAA	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	129/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152224950	T T	TATATATG others(15): Show TATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0116 a0116	a0116c0014 a0116c0014	a0116c0014t0004 a0116c0014t0004	a0116c0014t0004g0053 a0116c0014t0004g0053	1	172	0.0058	22	c.213 others(41): Show c.21352-287_21352-286insGTATATATATATATACATATAT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	116/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152241500	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0067 a0067	a0067c0042 a0067c0042	a0067c0042t0002 a0067c0042t0002	a0067c0042t0002g0089 a0067c0042t0002g0089	1	142	0.0070	22	c.198 others(41): Show c.19893+718_19893+739dupCACACACACACACACACACACA	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	107/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152241527	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02132.hp2 HG02896.hp2 others(3): Show HG00738.hp1 HG02132.hp2 HG02896.hp2 HG02897.hp2 HG03225.hp2 NA19043.hp2	a0006 a0011 a0019 others(2): Show a0006 a0011 a0019 a0088 a0117	a0006c0017 a0011c0119 a0011c0136 others(3): Show a0006c0017 a0011c0119 a0011c0136 a0019c0004 a0088c0029 a0117c0120	a0006c0017t0005 a0011c0119t0002 a0011c0136t0002 others(3): Show a0006c0017t0005 a0011c0119t0002 a0011c0136t0002 a0019c0004t0006 a0088c0029t0003 a0117c0120t0001	a0006c0017t0005g0035 a0011c0119t0002g0049 a0011c0136t0002g0024 others(3): Show a0006c0017t0005g0035 a0011c0119t0002g0049 a0011c0136t0002g0024 a0019c0004t0006g0160 a0088c0029t0003g0039 a0117c0120t0001g0116	6	39	0.1538	22	c.198 others(41): Show c.19893+712_19893+713insTCACACACACACACACACACAC	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	107/145			chr6	TogoVar
SYNE2_chr14_63848004_64231433	63924832	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0044 a0044	a0044c0090 a0044c0090	a0044c0090t0001 a0044c0090t0001	a0044c0090t0001g0002 a0044c0090t0001g0002	1	51	0.0196	22	c.79+ others(39): Show c.79+15606_79+15607insTTTTTTTTTTTTTTTTTTTTTT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	2/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63948764	A A	ATATGTGT others(15): Show ATATGTGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0067 a0067	a0067c0028 a0067c0028	a0067c0028t0002 a0067c0028t0002	a0067c0028t0002g0023 a0067c0028t0002g0023	1	147	0.0068	22	c.409 others(39): Show c.409-1058_409-1057insGTGTGTATATATATATGTGTAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	6/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63948770	G G	GTGTGTAT others(15): Show GTGTGTATATATATATGTGTATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp1 NA18949.hp2 HG02965.hp2 HG03041.hp1 NA18949.hp2	a0001 a0020 a0047 a0001 a0020 a0047	a0001c0025 a0020c0024 a0047c0027 a0001c0025 a0020c0024 a0047c0027	a0001c0025t0002 a0020c0024t0001 a0047c0027t0001 a0001c0025t0002 a0020c0024t0001 a0047c0027t0001	a0001c0025t0002g0084 a0020c0024t0001g0146 a0047c0027t0001g0083 a0001c0025t0002g0084 a0020c0024t0001g0146 a0047c0027t0001g0083	3	126	0.0238	22	c.409 others(39): Show c.409-1054_409-1053insGTGTATATATATATGTGTATAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	6/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63974884	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0135 a0001c0009t0002g0135	1	109	0.0092	22	c.112 others(41): Show c.1129-1678_1129-1677insATATATATATATATATATATAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	11/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63974888	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02300.hp2 HG01167.hp2 HG02300.hp2	a0002 a0030 a0002 a0030	a0002c0001 a0030c0064 a0002c0001 a0030c0064	a0002c0001t0003 a0030c0064t0002 a0002c0001t0003 a0030c0064t0002	a0002c0001t0003g0119 a0030c0064t0002g0106 a0002c0001t0003g0119 a0030c0064t0002g0106	2	96	0.0208	22	c.112 others(41): Show c.1129-1674_1129-1673insATATATATATATATATATATAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	11/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63974892	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18747.hp2 HG02083.hp1 NA18747.hp2	a0002 a0060 a0002 a0060	a0002c0068 a0060c0086 a0002c0068 a0060c0086	a0002c0068t0003 a0060c0086t0003 a0002c0068t0003 a0060c0086t0003	a0002c0068t0003g0140 a0060c0086t0003g0060 a0002c0068t0003g0140 a0060c0086t0003g0060	2	13	0.1538	22	c.112 others(41): Show c.1129-1670_1129-1669insGTATATATATATATATATATAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	11/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63974892	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0064 a0064	a0064c0044 a0064c0044	a0064c0044t0003 a0064c0044t0003	a0064c0044t0003g0121 a0064c0044t0003g0121	1	12	0.0833	22	c.112 others(41): Show c.1129-1670_1129-1669insGTGTGTATATATATATATATAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	11/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	63974892	G G	GTGTGTGT others(15): Show GTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0009 a0009	a0009c0079 a0009c0079	a0009c0079t0002 a0009c0079t0002	a0009c0079t0002g0087 a0009c0079t0002g0087	1	12	0.0833	22	c.112 others(41): Show c.1129-1670_1129-1669insGTGTGTGTATATATATATATAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	11/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE2_chr14_63848004_64231433	64138946	G G	GTATGTAT others(15): Show GTATGTATGGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0067 a0067	a0067c0028 a0067c0028	a0067c0028t0002 a0067c0028t0002	a0067c0028t0002g0023 a0067c0028t0002g0023	1	116	0.0086	22	c.148 others(41): Show c.14843+963_14843+964insTATGTATGGTGTGTGTGTGTGT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	79/115			chr14	TogoVar
SYNJ2_chr6_157976863_158104176	158075957	A A	AATCCCAG others(15): Show AATCCCAGCACTTTGGGAGGCTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG01099.hp2 others(61): Show HG00408.hp2 HG00639.hp1 HG01099.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp2 HG01358.hp1 HG01361.hp2 HG01891.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02897.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03486.hp1 HG03490.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18612.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18951.hp1 NA18952.hp1 NA18957.hp1 NA18970.hp2 NA18980.hp2 NA18985.hp1 NA19000.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp2 NA19064.hp2 NA19091.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0013 a0001c0028 others(7): Show a0001c0001 a0001c0013 a0001c0028 a0001c0041 a0002c0005 a0002c0010 a0002c0014 a0002c0027 a0004c0008 a0004c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0018 a0001c0001t0031 a0001c0013t0002 a0001c0028t0002 a0001c0041t0013 a0002c0005t0003 a0002c0005t0004 a0002c0005t0023 a0002c0010t0003 a0002c0014t0026 a0002c0027t0028 a0004c0008t0005 a0004c0008t0007 a0004c0040t0005	a0001c0001t0001g0199 a0001c0001t0002g0004 a0001c0001t0002g0005 others(61): Show a0001c0001t0001g0199 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0015 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0061 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0096 a0001c0001t0002g0109 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0169 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0218 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0255 a0001c0001t0002g0277 a0001c0001t0002g0302 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0309 a0001c0001t0013g0151 a0001c0001t0018g0003 a0001c0001t0031g0200 a0001c0013t0002g0219 a0001c0028t0002g0292 a0001c0041t0013g0267 a0002c0005t0003g0264 a0002c0005t0004g0054 a0002c0005t0004g0147 a0002c0005t0004g0148 a0002c0005t0023g0126 a0002c0010t0003g0249 a0002c0010t0003g0250 a0002c0014t0026g0034 a0002c0027t0028g0168 a0004c0008t0005g0016 a0004c0008t0005g0019 a0004c0008t0005g0258 a0004c0008t0007g0020 a0004c0040t0005g0018	64	310	0.2065	22	c.229 others(39): Show c.2293-668_2293-667insTCCCAGCACTTTGGGAGGCTGA	SYNJ2	ENSG00000078269.15	transcript	ENST00000355585.9	protein_coding	16/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYNPO2_chr4_118883854_119066247	118890697	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01346.hp2 HG02717.hp2 others(4): Show HG00733.hp2 HG01346.hp2 HG02717.hp2 HG03017.hp2 HG03239.hp1 NA18971.hp2 NA18972.hp2	a0002 a0006 a0002 a0006	a0002c0003 a0002c0004 a0006c0013 a0002c0003 a0002c0004 a0006c0013	a0002c0003t0004 a0002c0003t0005 a0002c0004t0003 others(2): Show a0002c0003t0004 a0002c0003t0005 a0002c0004t0003 a0002c0004t0005 a0006c0013t0018	a0002c0003t0004g0096 a0002c0003t0004g0097 a0002c0003t0005g0100 others(4): Show a0002c0003t0004g0096 a0002c0003t0004g0097 a0002c0003t0005g0100 a0002c0004t0003g0098 a0002c0004t0005g0095 a0002c0004t0005g0101 a0006c0013t0018g0099	7	109	0.0642	22	c.105 others(39): Show c.105+1572_105+1593dupCTCTCTCTCTCTCTCTCTCTCT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118890733	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG03139.hp2 others(1): Show HG01243.hp2 HG02451.hp1 HG03139.hp2 NA19082.hp1	a0003 a0004 a0003 a0004	a0003c0002 a0004c0010 a0004c0016 a0003c0002 a0004c0010 a0004c0016	a0003c0002t0016 a0004c0010t0020 a0004c0016t0006 others(1): Show a0003c0002t0016 a0004c0010t0020 a0004c0016t0006 a0004c0016t0028	a0003c0002t0016g0210 a0004c0010t0020g0218 a0004c0016t0006g0216 others(1): Show a0003c0002t0016g0210 a0004c0010t0020g0218 a0004c0016t0006g0216 a0004c0016t0028g0215	4	214	0.0187	22	c.105 others(39): Show c.105+1593_105+1594insCTCTCTCTCTCTCTCTCTCTGT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118900699	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0183 a0002c0004t0005g0183	1	276	0.0036	22	c.105 others(41): Show c.105+11559_105+11560insATATATATATATATATATATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118900703	C C	CTCTCTCT others(15): Show CTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0043 a0002c0003t0043	a0002c0003t0043g0309 a0002c0003t0043g0309	1	162	0.0062	22	c.105 others(41): Show c.105+11563_105+11564insCTCTCTATATATATATATATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	118900703	C C	CTCTCTCT others(15): Show CTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03491.hp1 HG03209.hp1 HG03491.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0020 a0001c0001 a0009c0020	a0001c0001t0001 a0009c0020t0014 a0001c0001t0001 a0009c0020t0014	a0001c0001t0001g0227 a0009c0020t0014g0246 a0001c0001t0001g0227 a0009c0020t0014g0246	2	163	0.0123	22	c.105 others(41): Show c.105+11563_105+11564insCTCTCTCTCTCTATATATATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	119007260	A A	ATATATGT others(15): Show ATATATGTATATACATATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18945.hp2 NA18953.hp1 others(3): Show HG00597.hp2 NA18945.hp2 NA18953.hp1 NA18971.hp1 NA18990.hp1 NA18993.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0012	a0001c0005 a0002c0003 a0004c0014 others(2): Show a0001c0005 a0002c0003 a0004c0014 a0005c0008 a0012c0034	a0001c0005t0002 a0002c0003t0001 a0004c0014t0003 others(3): Show a0001c0005t0002 a0002c0003t0001 a0004c0014t0003 a0005c0008t0001 a0005c0008t0002 a0012c0034t0001	a0001c0005t0002g0237 a0002c0003t0001g0075 a0004c0014t0003g0038 others(3): Show a0001c0005t0002g0237 a0002c0003t0001g0075 a0004c0014t0003g0038 a0005c0008t0001g0231 a0005c0008t0002g0021 a0012c0034t0001g0233	6	260	0.0231	22	c.106 others(41): Show c.106-16165_106-16164insGTATATACATATATATGTATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	119010418	A A	AACCATCA others(15): Show AACCATCAGATACAGTGAGACTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0144 a0002c0003t0004g0144	1	308	0.0032	22	c.106 others(41): Show c.106-13010_106-12989dupCCATCAGATACAGTGAGACTTA	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPR_chr3_63273308_63621924	63403441	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	109	0.0092	22	c.85- others(39): Show c.85-77383_85-77362dupCACACACACACACACACACACA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408322	A A	AGGAAGGA others(15): Show AGGAAGGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0235 a0001c0001t0006g0235	1	245	0.0041	22	c.85- others(39): Show c.85-72510_85-72509insGGAAGGAAAGAAAGAAAGAAAG	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5			chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408344	G G	GAAAGAAA others(15): Show GAAAGAAAGAAAGACAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0224 a0001c0001t0015g0224	1	244	0.0041	22	c.85- others(39): Show c.85-72475_85-72474insCAGAAAAGAAAAGAAAGAAAGA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar

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