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
SUN5_chr20_32978775_33009433	33001519	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA20805.hp2 HG02148.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0026 a0002c0002t0001g0026	2	382	0.0052	38	c.212 others(53): Show c.212-242_212-241insAGAAAGAAAGAAAGAAAGAAAGAAAAGAAA GAAAGAAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUN5_chr20_32978775_33009433	33001544	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02258.hp1 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0169 a0001c0001t0001g0170	2	382	0.0052	38	c.212 others(53): Show c.212-267_212-266insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(31): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0034	1	422	0.0024	38	c.-14 others(49): Show c.-1456_-1455insTATATATATATATATTTTTTTTTTTTTTTTTTTT TTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT20HL1_chrX_24355639_24372839	24360488	C C	CACACACA others(31): Show CACACACACACACACACGTACACACATACACACACACTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG01346.hp2 HG01943.hp1 others(16): Show HG00597.hp1 HG01346.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02572.hp1 HG02602.hp1 HG02723.hp1 HG02818.hp2 HG02970.hp1 HG03098.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp2 NA18942.hp1 NA18999.hp1 NA19064.hp2 NA19065.hp1	a0003 a0004 a0008 others(3): Show a0003 a0004 a0008 a0010 a0014 a0027	a0003c0014 a0004c0004 a0008c0010 others(3): Show a0003c0014 a0004c0004 a0008c0010 a0010c0009 a0014c0015 a0027c0042	a0003c0014t0003 a0004c0004t0003 a0008c0010t0003 others(4): Show a0003c0014t0003 a0004c0004t0003 a0008c0010t0003 a0008c0010t0026 a0010c0009t0003 a0014c0015t0003 a0027c0042t0003	a0003c0014t0003g0000 a0004c0004t0003g0000 a0008c0010t0003g0000 others(4): Show a0003c0014t0003g0000 a0004c0004t0003g0000 a0008c0010t0003g0000 a0008c0010t0026g0000 a0010c0009t0003g0000 a0014c0015t0003g0000 a0027c0042t0003g0000	19	316	0.0601	38	c.-22 others(49): Show c.-2273_-2272insACACACACACACACACGTACACACATACACACAC ACTG	SUPT20HL1	ENSG00000223731.4	transcript	ENST00000686983.1	protein_coding		150		chrX	TogoVar
SUPT3H_chr6_44821726_45382934	44928882	C C	CAAAATAA others(31): Show CAAAATAAATAAATAAATAAATAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0164 a0001c0001t0010g0164	1	262	0.0038	38	c.912 others(55): Show c.912+3770_912+3771insTTTTTTTTTTTTTTTTTATTTATTTATT TATTTATTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCCTATAT others(31): Show GCCTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA18986.hp2 NA19001.hp1 others(1): Show HG00642.hp2 NA18986.hp2 NA19001.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0204 others(1): Show a0001c0001t0001g0081 a0001c0001t0001g0098 a0001c0001t0001g0204 a0001c0001t0001g0242	4	262	0.0153	38	c.102 others(59): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATATATATAGG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230662	C C	CTATATAT others(31): Show CTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0104 a0001c0002t0016g0104	1	262	0.0038	38	c.102 others(59): Show c.102-124657_102-124656insTATATATATATATATATATATATA TATATATATATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT6H_chr17_28657205_28707679	28663828	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03098.hp1 HG03041.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0187 a0001c0001t0002g0188 a0001c0001t0001g0187 a0001c0001t0002g0188	2	236	0.0085	38	c.-32 others(55): Show c.-32+1503_-32+1504insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SUPT6H	ENSG00000109111.15	transcript	ENST00000314616.11	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr17	TogoVar
SUSD1_chr9_112035783_112180297	112086562	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	338	0.0030	38	c.147 others(57): Show c.1475-6398_1475-6397insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	10/16			chr9	TogoVar
SV2B_chr15_91095257_91307565	91125781	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03225.hp2 HG02615.hp1 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0011 a0001c0006t0004 a0001c0002t0011 a0001c0006t0004	a0001c0002t0011g0021 a0001c0006t0004g0019 a0001c0002t0011g0021 a0001c0006t0004g0019	2	214	0.0094	38	c.-39 others(59): Show c.-392+25437_-392+25438insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SVEP1_chr9_110360248_110584741	110388872	G G	GGCATGAG others(31): Show GGCATGAGAGTCCCTTGACCCCGGGAAGTGGAGGTTGCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0005 a0005	a0005c0092 a0005c0092	a0005c0092t0001 a0005c0092t0001	a0005c0092t0001g0089 a0005c0092t0001g0089	1	362	0.0028	38	c.988 others(55): Show c.9886+651_9886+652insTGCAACCTCCACTTCCCGGGGTCAAGGG ACTCTCATGC	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	41/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392133	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03579.hp2 HG01884.hp2 HG03579.hp2	a0012 a0012	a0012c0025 a0012c0096 a0012c0025 a0012c0096	a0012c0025t0004 a0012c0096t0001 a0012c0025t0004 a0012c0096t0001	a0012c0025t0004g0131 a0012c0096t0001g0063 a0012c0025t0004g0131 a0012c0096t0001g0063	2	362	0.0055	38	c.982 others(57): Show c.9823-2547_9823-2546insTATATATATATATATATATATATATA TATATATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392133	T T	TTTTATAT others(31): Show TTTTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0093 a0093	a0093c0150 a0093c0150	a0093c0150t0002 a0093c0150t0002	a0093c0150t0002g0286 a0093c0150t0002g0286	1	362	0.0028	38	c.982 others(57): Show c.9823-2547_9823-2546insTATATATATATATATATATATATATA TATATATATAAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392151	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0032 a0032	a0032c0055 a0032c0055	a0032c0055t0001 a0032c0055t0001	a0032c0055t0001g0211 a0032c0055t0001g0211	1	362	0.0028	38	c.982 others(57): Show c.9823-2565_9823-2564insGATATATATATATATATATATATATA TATATATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVOPL_chr7_138589285_138706362	138667109	A A	ATGGAACT others(31): Show ATGGAACTAAGATAATATAATGGAAAAATAAAACATCTC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0003 a0003	a0003c0028 a0003c0028	a0003c0028t0002 a0003c0028t0002	a0003c0028t0002g0057 a0003c0028t0002g0057	1	360	0.0028	38	c.274 others(55): Show c.274-4002_274-3965dupGAGATGTTTTATTTTTCCATTATATTAT CTTAGTTCCA	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	4/15			chr7	TogoVar
SYCP2L_chr6_10882052_10979309	10911894	C C	CTTTCTTT others(31): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	354	0.0028	38	c.919 others(53): Show c.919-776_919-775insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	426	0.0024	38	c.236 others(53): Show c.236-828_236-827insAAAAAATATATATATATATATATATATATA TATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	426	0.0024	38	c.236 others(53): Show c.236-828_236-827insAAAAAAAATATATATATATATATATATATA TATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01515.hp2 HG01517.hp2 others(1): Show HG01258.hp1 HG01515.hp2 HG01517.hp2 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0122 a0001c0001t0001g0189 others(1): Show a0001c0001t0001g0069 a0001c0001t0001g0122 a0001c0001t0001g0189 a0001c0001t0001g0190	4	426	0.0094	38	c.236 others(53): Show c.236-828_236-827insAAAAAAAAAAAAAATATATATATATATATA TATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	426	0.0024	38	c.236 others(53): Show c.236-828_236-827insAAAAAAAAAAAAAAAATATATATATATATA TATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYK_chr9_90796819_90903549	90884284	T T	TATACACA others(31): Show TATACACATACACATACGTGTATATATACACACATACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00741.hp2 others(7): Show HG00438.hp2 HG00544.hp2 HG00741.hp2 HG02148.hp2 HG02293.hp1 NA18982.hp2 NA18991.hp2 NA19000.hp2 NA19011.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0001t0059	a0001c0001t0002g0124 a0001c0001t0003g0123 a0001c0001t0006g0019 others(7): Show a0001c0001t0002g0124 a0001c0001t0003g0123 a0001c0001t0006g0019 a0001c0001t0006g0067 a0001c0001t0006g0088 a0001c0001t0006g0159 a0001c0001t0006g0211 a0001c0001t0006g0253 a0001c0001t0017g0322 a0001c0001t0059g0062	10	376	0.0266	38	c.158 others(57): Show c.1582-3455_1582-3454insACATACGTGTATATATACACACATAC ACATACACATAC	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN3_chr22_32502820_33063381	32758681	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp2 HG01081.hp1 others(12): Show HG00323.hp2 HG00738.hp2 HG01081.hp1 HG01175.hp1 HG01192.hp2 HG02257.hp2 HG02683.hp1 HG02886.hp1 HG02965.hp2 HG03041.hp2 HG03486.hp2 NA19063.hp1 NA19063.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0030 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0062 a0001c0001t0070 a0002c0002t0004	a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0162 others(12): Show a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0162 a0001c0001t0002g0182 a0001c0001t0006g0138 a0001c0001t0006g0177 a0001c0001t0007g0082 a0001c0001t0009g0019 a0001c0001t0030g0015 a0001c0001t0044g0077 a0001c0001t0045g0068 a0001c0001t0047g0091 a0001c0001t0062g0181 a0001c0001t0070g0006 a0002c0002t0004g0159	15	184	0.0815	38	c.711 others(59): Show c.711+106233_711+106234insATATATATATATATATATATATAT ATATATATATATAT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYNE1_chr6_152116687_152173312	152139717	A A	AAAAGAAA others(31): Show AAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0004 a0003c0013t0004	a0003c0013t0004g0121 a0003c0013t0004g0121	1	436	0.0023	38	c.199 others(55): Show c.1992+232_1992+233insCTTTCTTTCTTTCTTTCTTTCTTTTTCT TTCTTTCTTT	SYNE1	ENSG00000131018.25	transcript	ENST00000354674.5	protein_coding	12/17			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152139717	A A	AAAAGAAA others(31): Show AAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0047 a0047	a0047c0107 a0047c0107	a0047c0107t0002 a0047c0107t0002	a0047c0107t0002g0093 a0047c0107t0002g0093	1	174	0.0058	38	c.254 others(57): Show c.25458+232_25458+233insCTTTCTTTCTTTCTTTCTTTCTTTTT CTTTCTTTCTTT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	140/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152296852	A A	AGGCCTCT others(31): Show AGGCCTCTGTAGTCCCTCCTGGCCTCTGTAGTCCCTCCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0093 a0093	a0093c0108 a0093c0108	a0093c0108t0005 a0093c0108t0005	a0093c0108t0005g0067 a0093c0108t0005g0067	1	174	0.0058	38	c.176 others(59): Show c.17683-2763_17683-2726dupAGGAGGGACTACAGAGGCCAGGAG GGACTACAGAGGCC	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	93/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152574145	G G	GATATACA others(31): Show GATATACACATATATATGTATATATATACACACATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02258.hp1 HG02622.hp2 others(2): Show HG01081.hp2 HG02258.hp1 HG02622.hp2 HG03516.hp2 NA20129.hp1	a0020 a0037 a0058 others(2): Show a0020 a0037 a0058 a0065 a0125	a0020c0069 a0037c0038 a0058c0117 others(2): Show a0020c0069 a0037c0038 a0058c0117 a0065c0037 a0125c0036	a0020c0069t0014 a0037c0038t0002 a0058c0117t0004 others(2): Show a0020c0069t0014 a0037c0038t0002 a0058c0117t0004 a0065c0037t0001 a0125c0036t0001	a0020c0069t0014g0003 a0037c0038t0002g0052 a0058c0117t0004g0009 others(2): Show a0020c0069t0014g0003 a0037c0038t0002g0052 a0058c0117t0004g0009 a0065c0037t0001g0119 a0125c0036t0001g0058	5	174	0.0287	38	c.68- others(55): Show c.68-34162_68-34125dupATATATGTGTGTATATATATACATATAT ATGTGTATAT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0092 a0003c0003t0003g0092	1	420	0.0024	38	c.-64 others(47): Show c.-645_-644insTATATATATATATATATATATATATATATATTTTTT TT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0003 a0003c0024t0003	a0003c0024t0003g0004 a0003c0024t0003g0004	1	420	0.0024	38	c.-64 others(47): Show c.-645_-644insTATATATATATATATATATATATATATATTTTTTTT TT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG02056.hp1 NA18959.hp2 others(2): Show HG00621.hp1 HG02056.hp1 NA18959.hp2 NA18969.hp1 NA19055.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0003 a0005c0006t0004 a0003c0003t0003 a0005c0006t0004	a0003c0003t0003g0003 a0003c0003t0003g0080 a0003c0003t0003g0096 others(1): Show a0003c0003t0003g0003 a0003c0003t0003g0080 a0003c0003t0003g0096 a0005c0006t0004g0011	5	420	0.0119	38	c.-64 others(47): Show c.-645_-644insTATATATATATATATATATATATATATTTTTTTTTT TT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp1 HG02698.hp2 HG02683.hp1 HG02698.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0018 a0004c0004t0005 a0004c0004t0018	a0004c0004t0005g0182 a0004c0004t0018g0183 a0004c0004t0005g0182 a0004c0004t0018g0183	2	420	0.0048	38	c.-64 others(47): Show c.-645_-644insTATATATATATATATATATATATTTTTTTTTTTTTT TT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0093 a0003c0003t0003g0093	1	420	0.0024	38	c.-64 others(47): Show c.-645_-644insTATATATATATATATATATATTTTTTTTTTTTTTTT TT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNPO2_chr4_118883854_119066247	119007285	T T	TATATATA others(31): Show TATATATATGTATATACATATATATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02647.hp1 others(1): Show HG00639.hp1 HG02055.hp2 HG02647.hp1 HG03041.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0009 a0002c0003 a0004c0009	a0002c0003t0024 a0002c0003t0045 a0004c0009t0009 others(1): Show a0002c0003t0024 a0002c0003t0045 a0004c0009t0009 a0004c0009t0024	a0002c0003t0024g0165 a0002c0003t0045g0160 a0004c0009t0009g0161 others(1): Show a0002c0003t0024g0165 a0002c0003t0045g0160 a0004c0009t0009g0161 a0004c0009t0024g0159	4	310	0.0129	38	c.106 others(57): Show c.106-16137_106-16136insGTATATACATATATATATATATGTAT ATACATATATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	119022669	T T	TTATTTTA others(31): Show TTATTTTATTTTATTTTAATTGTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00733.hp1 others(41): Show HG00423.hp2 HG00544.hp1 HG00733.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02080.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG03453.hp1 HG03491.hp1 HG03688.hp2 NA18612.hp2 NA18942.hp2 NA18946.hp1 NA18948.hp2 NA18952.hp2 NA18961.hp1 NA18968.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18993.hp1 NA19078.hp2 NA19086.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0003 a0002c0027 others(2): Show a0001c0001 a0002c0003 a0002c0027 a0003c0002 a0004c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0023 a0001c0001t0036 a0001c0001t0037 a0002c0003t0001 a0002c0003t0004 a0002c0003t0044 a0002c0003t0046 a0002c0003t0052 a0002c0027t0005 a0003c0002t0001 a0003c0002t0034 a0004c0016t0006 a0004c0016t0029	a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0068 others(41): Show a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0210 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0247 a0001c0001t0001g0270 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0002g0117 a0001c0001t0002g0130 a0001c0001t0002g0180 a0001c0001t0003g0225 a0001c0001t0003g0243 a0001c0001t0004g0015 a0001c0001t0005g0018 a0001c0001t0008g0035 a0001c0001t0008g0048 a0001c0001t0012g0065 a0001c0001t0012g0148 a0001c0001t0023g0007 a0001c0001t0036g0038 a0001c0001t0037g0162 a0002c0003t0001g0025 a0002c0003t0001g0027 a0002c0003t0004g0067 a0002c0003t0044g0308 a0002c0003t0046g0273 a0002c0003t0052g0001 a0002c0027t0005g0049 a0003c0002t0001g0237 a0003c0002t0034g0019 a0004c0016t0006g0108 a0004c0016t0006g0212 a0004c0016t0029g0107	44	310	0.1419	38	c.106 others(53): Show c.106-740_106-703dupGTATTTTATTTTATTTTATATTTTATTTTA TTTTAATT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPR_chr3_63273308_63621924	63313706	T T	TATATATA others(31): Show TATATATATATCCATATATATATATCCATATATATATCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	246	0.0041	38	c.84+ others(55): Show c.84+35000_84+35001insCCATATATATATCCATATATATATATCC ATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313706	T T	TATATATA others(31): Show TATATATATATCCATATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0231 a0001c0001t0004g0231	1	246	0.0041	38	c.84+ others(55): Show c.84+34986_84+34987insCCATATATATATATCCATATATATATCC ATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313772	T T	TATATATA others(31): Show TATATATATATCCATATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18966.hp2 HG02145.hp2 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0099 a0002c0002t0001g0134 a0001c0001t0001g0099 a0002c0002t0001g0134	2	246	0.0081	38	c.84+ others(55): Show c.84+35052_84+35053insCCATATATATATATCCATATATATATCC ATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313862	T T	TATATATA others(31): Show TATATATATATCCATATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01952.hp2 HG01978.hp2 others(1): Show HG01255.hp2 HG01952.hp2 HG01978.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0139 others(1): Show a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0221	4	246	0.0163	38	c.84+ others(55): Show c.84+35143_84+35180dupCCATATATATATATCCATATATATATCC ATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408308	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0226 a0001c0001t0009g0226	1	246	0.0041	38	c.85- others(55): Show c.85-72522_85-72521insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGACAGAAAA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63408324	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGAAAAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0233 a0001c0001t0014g0233	1	246	0.0041	38	c.85- others(55): Show c.85-72479_85-72478insCAGAAAAGAAAAGAAAGAAAGAAAGAAA GAAAGAAAGA	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63476319	A A	AGGAAGGA others(31): Show AGGAAGGAAGGAGGGAAGGGAAGGAAGGCAGGAGGGAAG	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18951.hp2 NA18986.hp2 NA18939.hp1 NA18951.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0126 a0001c0001t0002g0178 a0001c0001t0002g0051 a0001c0001t0002g0126 a0001c0001t0002g0178	3	246	0.0122	38	c.85- others(53): Show c.85-4512_85-4511insGAAGGAAGGAGGGAAGGGAAGGAAGGCAGG AGGGAAGG	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYT16_chr14_61807703_62117550	62011926	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0035 a0001c0001t0003g0035	1	174	0.0058	38	c.523 others(57): Show c.523+15400_523+15401insATATATATATATATATATATATATAT ATATATATATAT	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYT16_chr14_61807703_62117550	62116605	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	174	0.0058	38	c.15 others(51): Show c.15898_*15899insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SYT16	ENSG00000139973.18	transcript	ENST00000683842.1	protein_coding		4056		chr14	TogoVar
SYT1_chr12_78859774_79457008	79179009	T T	TATATCTA others(31): Show TATATCTATATAGATATAGATATAGATATATCTATATAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG03195.hp2 HG01261.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0006 a0001c0002t0002 a0001c0002t0006	a0001c0002t0002g0020 a0001c0002t0006g0007 a0001c0002t0002g0020 a0001c0002t0006g0007	2	62	0.0323	38	c.-17 others(57): Show c.-17-38490_-17-38489insCTATATAGATATAGATATAGATATAT CTATATAGATAT	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT1_chr12_78859774_79457008	79446000	T T	TATATATA others(31): Show TATATATATACATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02074.hp1 HG01256.hp1 HG01258.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0002t0003g0054 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0002t0003g0054	3	62	0.0484	38	c.106 others(57): Show c.1062+1803_1062+1804insCATATATATATATATATATATATATA TACATATATATA	SYT1	ENSG00000067715.15	transcript	ENST00000261205.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
SYT5_chr19_55166196_55185289	55168406	T T	TATATATA others(31): Show TATATATATATATATAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0019 a0002c0003t0007g0019	1	410	0.0024	38	c.50 others(49): Show c.5077_*5078insCTCTCTCTCTCTCTCTCTCTCTCTATATATATAT ATAT	SYT5	ENSG00000129990.15	transcript	ENST00000354308.8	protein_coding		2789		chr19	TogoVar
SYT5_chr19_55166196_55185289	55168406	T T	TATATATA others(31): Show TATATATATATATATATATAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0055 a0001c0001t0030g0055	1	410	0.0024	38	c.50 others(49): Show c.5077_*5078insCTCTCTCTCTCTCTCTCTCTATATATATATATAT ATAT	SYT5	ENSG00000129990.15	transcript	ENST00000354308.8	protein_coding		2789		chr19	TogoVar
SYT5_chr19_55166196_55185289	55170850	T T	TTCTCTCT others(31): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0037 a0001c0001t0034g0037	1	410	0.0024	38	c.26 others(49): Show c.2633_*2634insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	SYT5	ENSG00000129990.15	transcript	ENST00000354308.8	protein_coding		345		chr19	TogoVar
SYT6_chr1_114084292_114158869	114149220	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0229 a0001c0001t0004g0229	1	426	0.0024	38	c.163 others(55): Show c.163+4389_163+4390insGCGCGCGCGCGCGCGCACACACACACAC ACACACACAC	SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	1/7			chr1	TogoVar
SYT6_chr1_114084292_114158869	114149220	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGTGCGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00735.hp2 others(31): Show HG00099.hp1 HG00099.hp2 HG00735.hp2 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01884.hp2 HG02004.hp1 HG02109.hp1 HG02145.hp2 HG02300.hp2 HG02559.hp1 HG02683.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03491.hp1 HG03579.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0032 a0001c0002t0001 a0001c0004t0023 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0009 a0002c0003t0010 a0002c0003t0012 a0002c0003t0020 a0002c0003t0028 a0002c0003t0034	a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0263 others(31): Show a0001c0001t0001g0250 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0002g0400 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0277 a0001c0001t0004g0264 a0001c0001t0007g0262 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0401 a0001c0001t0009g0272 a0001c0001t0010g0275 a0001c0001t0011g0274 a0001c0001t0014g0261 a0001c0001t0032g0249 a0001c0002t0001g0268 a0001c0004t0023g0252 a0002c0003t0001g0255 a0002c0003t0003g0258 a0002c0003t0003g0269 a0002c0003t0003g0278 a0002c0003t0004g0256 a0002c0003t0006g0251 a0002c0003t0009g0270 a0002c0003t0010g0259 a0002c0003t0012g0257 a0002c0003t0020g0254 a0002c0003t0028g0253 a0002c0003t0034g0276	34	426	0.0798	38	c.163 others(55): Show c.163+4389_163+4390insGCGCACGCGCACACACACACACACACAC ACACACACAC	SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	1/7			chr1	TogoVar
SYT6_chr1_114084292_114158869	114149222	T T	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0045 a0001c0001t0019g0045	1	426	0.0024	38	c.163 others(55): Show c.163+4387_163+4388insGCGCGCGCGCGCGCGCACACACACACAC ACACACACAC	SYT6	ENSG00000134207.17	transcript	ENST00000610222.3	protein_coding	1/7			chr1	TogoVar

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