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
C1orf21_chr1_184382029_184634019	184410633	A A	AATATATA others(20): Show AATATATATATATAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp1 HG02809.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0029 a0001c0001t0028 a0001c0001t0029	a0001c0001t0028g0151 a0001c0001t0029g0158 a0001c0001t0028g0151 a0001c0001t0029g0158	2	211	0.0095	27	c.-12 others(48): Show c.-125+23265_-125+23266insATATATATATATAATATATATATA TAT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5			chr1	TogoVar
C1orf54_chr1_150267790_150285916	150284003	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03486.hp2 HG02922.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	2	370	0.0054	27	c.31 others(38): Show c.3172_*3173insTTATTATTATTATTATTATTATTATTA	C1orf54	ENSG00000118292.9	transcript	ENST00000369099.8	protein_coding		3088		chr1	TogoVar
C20orf141_chr20_2809987_2820830	2814302	C C	CAGTGTAA others(20): Show CAGTGTAATCTGATATACTGATAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	412	0.0024	27	c.-74 others(36): Show c.-749_-748insAGTGTAATCTGATATACTGATAATCCA	C20orf141	ENSG00000258713.3	transcript	ENST00000603872.2	protein_coding		684		chr20	TogoVar
C20orf96_chr20_265863_295750	278861	G G	GCGTCTTT others(20): Show GCGTCTTTCCAAGGTGGAGGAAGCACCA	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0108 a0001c0005t0001g0108	1	408	0.0025	27	c.465 others(42): Show c.465+310_465+311insTGGTGCTTCCTCCACCTTGGAAAGACG	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 NA18962.hp1 HG00738.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0160 a0002c0002t0001g0002 a0002c0002t0001g0160	2	172	0.0116	27	c.35 others(38): Show c.3564_*3565insAAAAAAAAAAAAAAAAAAAAAAAAAAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C22orf42_chr22_32144006_32164303	32145565	A A	AATATAAT others(20): Show AATATAATTTATTATATTATATAATGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03195.hp1 NA18522.hp1 HG02976.hp2 HG03195.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0086 a0002c0002t0002g0007 a0002c0002t0002g0086	3	388	0.0077	27	c.39 others(38): Show c.3974_*3975insATCATTATATAATATAATAAATTATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3440		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32145659	T T	TTATTATA others(20): Show TTATTATATAATGATATATAATTTGTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	314	0.0032	27	c.38 others(38): Show c.3880_*3881insTAACAAATTATATATCATTATATAATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		3346		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32146608	T T	TTATATAT others(20): Show TTATATATATAGTATATAATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00738.hp2 others(3): Show HG00099.hp1 HG00639.hp1 HG00738.hp2 HG01981.hp2 HG02486.hp2 NA20752.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0008 a0002c0004t0003g0026 a0002c0004t0003g0008 a0002c0004t0003g0026	6	380	0.0158	27	c.29 others(38): Show c.2931_*2932insTAATATATATTATATACTATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2397		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02135.hp1 HG03704.hp1 others(1): Show HG01169.hp2 HG02135.hp1 HG03704.hp1 NA19012.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0001c0001t0004 a0003c0009t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0003c0009t0007 a0003c0009t0032	a0001c0001t0001g0027 a0001c0001t0004g0298 a0003c0009t0007g0293 others(1): Show a0001c0001t0001g0027 a0001c0001t0004g0298 a0003c0009t0007g0293 a0003c0009t0032g0026	4	242	0.0165	27	c.280 others(44): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947112	T T	TTCTCTCC others(20): Show TTCTCTCCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0306 a0001c0011t0005g0306	1	239	0.0042	27	c.280 others(44): Show c.280-4868_280-4867insGAGAGAGAGAGAGAGAGAGAGGAGAGA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD2_chr21_41880112_41959018	41947137	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0004 a0001c0013t0004	a0001c0013t0004g0171 a0001c0013t0004g0171	1	116	0.0086	27	c.280 others(44): Show c.280-4893_280-4892insGAGAGAGAGAGAGAGAGAGAGAGAGAG	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C3orf38_chr3_88144959_88162965	88162142	G G	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	31	0.0323	27	c.55 others(38): Show c.5507_*5508insAAAAAAAAAAAAAAAAAAAAAAAAAAA	C3orf38	ENSG00000179021.10	transcript	ENST00000318887.8	protein_coding		4178		chr3	TogoVar
C4orf19_chr4_37448925_37598510	37508683	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0107 a0001c0001t0029g0107	1	140	0.0071	27	c.-72 others(46): Show c.-72-49336_-72-49335insTTTTTTTTTTTTTTTTTTTTTTTTTT T	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18952.hp2 NA18970.hp2 HG02074.hp1 NA18952.hp2 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0002c0002t0004 a0001c0001t0007 a0002c0002t0004	a0001c0001t0007g0318 a0002c0002t0004g0305 a0002c0002t0004g0316 a0001c0001t0007g0318 a0002c0002t0004g0305 a0002c0002t0004g0316	3	175	0.0171	27	c.57 others(38): Show c.5736_*5737insTATATATATATATATATATATATATTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0177 a0001c0001t0040g0177	1	173	0.0058	27	c.57 others(38): Show c.5736_*5737insTATATATATATATATATATATATTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 NA18971.hp2 NA19058.hp2 HG02040.hp1 NA18971.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0304 a0001c0001t0002g0307 a0001c0001t0002g0323 a0001c0001t0001g0304 a0001c0001t0002g0307 a0001c0001t0002g0323	3	175	0.0171	27	c.57 others(38): Show c.5736_*5737insTATATATATATATATATATATTTTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0036 a0001c0001t0042g0036	1	173	0.0058	27	c.57 others(38): Show c.5736_*5737insTATATATATATATATATATTTTTTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	55	0.0182	27	c.715 others(44): Show c.715-1621_715-1620insATATATATATATATATATATATTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	55	0.0182	27	c.715 others(44): Show c.715-1621_715-1620insATATATATATTTTTTTTTTTTTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf50_chr4_5954375_6023431	6003860	G G	GTGATGAT others(20): Show GTGATGATGGTGATGGTGATGATGGTGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA19001.hp2 NA18949.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0176 a0002c0002t0001g0196 a0002c0002t0001g0176 a0002c0002t0001g0196	2	90	0.0222	27	c.963 others(44): Show c.963+4135_963+4136insTCACCATCATCACCATCACCATCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C5orf46_chr5_147887722_147911538	147908963	C C	CACACAAA others(20): Show CACACAAAACAAAACAAAACAAAACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02965.hp1 HG02965.hp2 others(1): Show HG01934.hp2 HG02965.hp1 HG02965.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0035 a0002c0003t0001g0036	4	278	0.0144	27	c.-24 others(38): Show c.-2463_-2462insTTTGTTTTGTTTTGTTTTGTTTTGTGT	C5orf46	ENSG00000178776.5	transcript	ENST00000318315.5	protein_coding		2426		chr5	TogoVar
C6orf132_chr6_42096119_42147620	42132889	G G	GAAAAGAA others(20): Show GAAAAGAAAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0032 a0032	a0032c0026 a0032c0026	a0032c0026t0023 a0032c0026t0023	a0032c0026t0023g0044 a0032c0026t0023g0044	1	362	0.0028	27	c.146 others(44): Show c.146-4112_146-4111insTTCTTTTCTTTTCTTTTCTTTTCTTTT	C6orf132	ENSG00000188112.10	transcript	ENST00000341865.9	protein_coding	1/4			chr6	TogoVar
C6orf163_chr6_87339813_87370463	87357782	T T	TCTAGCTA others(20): Show TCTAGCTACACTTGCGTCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	434	0.0023	27	c.554 others(44): Show c.554+1281_554+1282insAGCTACACTTGCGTCCCCTCCCCTCCT	C6orf163	ENSG00000203872.7	transcript	ENST00000388923.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
C7_chr5_40904497_40989643	40978873	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01981.hp1 HG03927.hp2 others(4): Show HG00741.hp2 HG01981.hp1 HG03927.hp2 HG04115.hp2 NA19011.hp1 NA19066.hp1 NA20300.hp1	a0003 a0005 a0008 a0003 a0005 a0008	a0003c0003 a0005c0005 a0008c0008 a0003c0003 a0005c0005 a0008c0008	a0003c0003t0003 a0005c0005t0003 a0008c0008t0003 a0003c0003t0003 a0005c0005t0003 a0008c0008t0003	a0003c0003t0003g0235 a0003c0003t0003g0330 a0003c0003t0003g0337 others(4): Show a0003c0003t0003g0235 a0003c0003t0003g0330 a0003c0003t0003g0337 a0005c0005t0003g0135 a0005c0005t0003g0179 a0008c0008t0003g0314 a0008c0008t0003g0351	7	119	0.0588	27	c.216 others(44): Show c.2166-828_2166-827insTTTTTTTTTTTTTTTTTTTTTTTTTTT	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf50_chr7_992006_1143247	1016567	A A	AGCACACA others(20): Show AGCACACAGCAGCGCACAGCAGCACACG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02622.hp2 HG02970.hp2 others(4): Show HG02109.hp2 HG02622.hp2 HG02970.hp2 HG03209.hp1 HG03516.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0304 others(4): Show a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0304 a0001c0001t0014g0156 a0001c0001t0014g0172 a0001c0001t0014g0173 a0001c0001t0014g0174	7	220	0.0318	27	c.130 others(44): Show c.130-6425_130-6424insCGTGTGCTGCTGTGCGCTGCTGTGTGC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016663	G G	GCACGCCA others(20): Show GCACGCCAGCACACAGCAGCACACAGCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03209.hp1 HG01081.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0304 a0001c0001t0003g0206 a0001c0001t0003g0304	2	315	0.0063	27	c.130 others(44): Show c.130-6521_130-6520insTGCTGTGTGCTGCTGTGTGCTGGCGTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016969	C C	CCAGCGCA others(20): Show CCAGCGCACGCCAGCACACGCCAGCGCA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	323	0.0031	27	c.130 others(44): Show c.130-6827_130-6826insTGCGCTGGCGTGTGCTGGCGTGCGCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1041375	C C	CGGGGAAG others(20): Show CGGGGAAGGGGACCTGGGGTCCGCACTG	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	247	0.0040	27	c.130 others(46): Show c.130-31233_130-31232insCAGTGCGGACCCCAGGTCCCCTTCCC C	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051809	T T	TCCTTCCT others(20): Show TCCTTCCTTCCTTTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0057 a0002c0001t0002g0057	1	373	0.0027	27	c.606 others(42): Show c.606-891_606-890insCCTTCCTTCCTTTTCTCTTCTCTTCTC	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8			chr7	TogoVar
C8G_chr9_136940243_136951975	136950236	T T	TGTCCGGG others(20): Show TGTCCGGGAGGCTCCTGCAGGGGACGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	414	0.0024	27	c.34 others(38): Show c.3455_*3456insGTCCGGGAGGCTCCTGCAGGGGACGTG	C8G	ENSG00000176919.13	transcript	ENST00000371634.7	protein_coding		3262		chr9	TogoVar
C8orf34_chr8_68325955_68824023	68505738	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0018 a0004c0018	a0004c0018t0007 a0004c0018t0007	a0004c0018t0007g0126 a0004c0018t0007g0126	1	112	0.0089	27	c.766 others(46): Show c.766-16042_766-16041insAAAAAAAAAAAAAAAAAAAAAAAAAA A	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68774944	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp1 HG03516.hp2 others(1): Show HG02055.hp1 HG02486.hp1 HG03516.hp2 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0017 a0001c0001 a0002c0003 a0004c0017	a0001c0001t0001 a0002c0003t0002 a0002c0003t0005 others(1): Show a0001c0001t0001 a0002c0003t0002 a0002c0003t0005 a0004c0017t0006	a0001c0001t0001g0109 a0002c0003t0002g0117 a0002c0003t0005g0040 others(1): Show a0001c0001t0001g0109 a0002c0003t0002g0117 a0002c0003t0005g0040 a0004c0017t0006g0128	4	51	0.0784	27	c.140 others(46): Show c.1405-1432_1405-1431insAAAAAAAAAAAAAAAAAAAAAAAAAA A	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68794505	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0101 a0002c0013t0001g0101	1	66	0.0152	27	c.154 others(46): Show c.1549+6970_1549+6971insATATATATATATATATATATATATAT T	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
C8orf34_chr8_68325955_68824023	68794506	T T	TATATATA others(20): Show TATATATATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA21309.hp2 HG01109.hp2 NA21309.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0025 a0002c0003t0001g0087 a0002c0003t0001g0025 a0002c0003t0001g0087	2	109	0.0183	27	c.154 others(46): Show c.1549+6970_1549+6971insATATATATATATATATATATATATAC A	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13			chr8	TogoVar
C9_chr5_39279140_39369495	39282138	T T	TTCTTCTT others(20): Show TTCTTCTTTCTTTCTTTCTTTCTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0010 a0010	a0010c0020 a0010c0020	a0010c0020t0001 a0010c0020t0001	a0010c0020t0001g0309 a0010c0020t0001g0309	1	195	0.0051	27	c.30 others(38): Show c.3060_*3061insGAAAGAGAAAGAAAGAAAGAAAGAAGA	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding		2001		chr5	TogoVar
C9_chr5_39279140_39369495	39340347	C C	CCAACAAA others(20): Show CCAACAAATCCACCTTTACCAAAAATAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0324 a0008c0011t0001g0324	1	392	0.0026	27	c.476 others(42): Show c.476+772_476+798dupCTATTTTTGGTAAAGGTGGATTTGTTG	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/10			chr5	TogoVar
C9_chr5_39279140_39369495	39340372	T T	TAGCAACA others(20): Show TAGCAACAAACCCACCTTTACCAAAAAC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0298 a0002c0002t0001g0298	1	392	0.0026	27	c.476 others(42): Show c.476+773_476+774insGTTTTTGGTAAAGGTGGGTTTGTTGCT	C9	ENSG00000113600.12	transcript	ENST00000263408.5	protein_coding	4/10			chr5	TogoVar
C9orf152_chr9_110194561_110213159	110198893	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG02056.hp2 others(15): Show HG00408.hp2 HG00738.hp1 HG02056.hp2 HG02074.hp2 HG02155.hp2 HG02735.hp2 HG04184.hp1 NA18941.hp1 NA18951.hp2 NA18991.hp2 NA18993.hp1 NA18997.hp1 NA19002.hp1 NA19004.hp2 NA19011.hp1 NA19066.hp1 NA19082.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0001t0039	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0098 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0098 a0001c0001t0001g0108 a0001c0001t0003g0049 a0001c0001t0014g0014 a0001c0001t0039g0104	18	67	0.2687	27	c.20 others(38): Show c.2054_*2055insTTTTTTTTTTTTTTTTTTTTTTTTTTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		667		chr9	TogoVar
C9orf85_chr9_71906639_71978457	71976095	T T	TTCAACAA others(20): Show TTCAACAACAACAACGGAGGAGGAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	248	0.0040	27	c.32 others(38): Show c.3253_*3254insTCAACAACAACAACGGAGGAGGAGGAA	C9orf85	ENSG00000155621.15	transcript	ENST00000334731.7	protein_coding		2639		chr9	TogoVar
CA10_chr17_51625320_52163714	51831672	G G	GCAGCAGC others(20): Show GCAGCAGCAGCAGCAGCAGCAGCAGCAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp1 HG02622.hp1 others(1): Show HG01243.hp2 HG02145.hp1 HG02622.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0017 a0001c0001t0003g0081 a0001c0001t0003g0085 others(1): Show a0001c0001t0001g0017 a0001c0001t0003g0081 a0001c0001t0003g0085 a0001c0001t0012g0156	4	154	0.0260	27	c.280 others(46): Show c.280-83855_280-83854insATGCTGCTGCTGCTGCTGCTGCTGCT G	CA10	ENSG00000154975.14	transcript	ENST00000451037.7	protein_coding	3/8			chr17	TogoVar
CA12_chr15_63316378_63386846	63376557	C C	CCTTTCTT others(20): Show CCTTTCTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0276 a0001c0001t0005g0276	1	147	0.0068	27	c.86- others(40): Show c.86-880_86-879insAAAGAAAGAAAGAAAGAAAGAAGAAAG	CA12	ENSG00000074410.14	transcript	ENST00000178638.8	protein_coding	1/10			chr15	TogoVar
CA5A_chr16_87883013_87941529	87937799	C C	CTTTCTTT others(20): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 NA19240.hp2 HG03540.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0047 a0001c0001t0001g0048	2	358	0.0056	27	c.-13 others(38): Show c.-1350_-1349insAAAGAAAGAAAGAAAGAAAGAAAGAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1271		chr16	TogoVar
CA5A_chr16_87883013_87941529	87937800	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG02572.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0038 a0001c0001t0001g0049	2	394	0.0051	27	c.-13 others(38): Show c.-1351_-1350insGAAAGAAAGAAAGAAAGAAAGAAAGAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1272		chr16	TogoVar
CA6_chr1_8940868_8980092	8977700	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0379 a0001c0001t0001g0379	1	107	0.0093	27	c.29 others(38): Show c.2996_*2997insAAGAAAGAAAGAAAGAAAGAAAGAAAG	CA6	ENSG00000131686.15	transcript	ENST00000377443.7	protein_coding		2609		chr1	TogoVar
CAB39L_chr13_49303650_49449064	49346120	T T	TATATATA others(20): Show TATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01358.hp2 HG02451.hp1 others(5): Show HG01257.hp1 HG01358.hp2 HG02451.hp1 HG02647.hp2 HG03453.hp1 HG03471.hp1 HG03942.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0136 others(5): Show a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0001g0234 a0001c0001t0001g0261 a0001c0001t0002g0254 a0001c0001t0003g0026 a0001c0001t0004g0268	8	174	0.0460	27	c.565 others(44): Show c.565-1883_565-1882insGATATATATATATATATATATATATAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441226	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0298 a0001c0001t0004g0298	1	286	0.0035	27	c.-24 others(46): Show c.-246+2759_-246+2760insTATATATATATATATATATATATATA T	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230748831	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	149	0.0067	27	c.-43 others(46): Show c.-43-11128_-43-11127insTATATATATATATATATATATATATA T	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	1/8			chr2	TogoVar
CAB39_chr2_230707842_230826075	230782809	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18906.hp1 NA18963.hp1 HG02129.hp2 NA18906.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0032 a0001c0001t0003 a0001c0001t0032	a0001c0001t0003g0212 a0001c0001t0003g0227 a0001c0001t0032g0323 a0001c0001t0003g0212 a0001c0001t0003g0227 a0001c0001t0032g0323	3	248	0.0121	27	c.115 others(44): Show c.115-8060_115-8059insTTTTTTTTTTTTTTTTTTTTTTTTTTT	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61680464	T T	TTATATGT others(20): Show TTATATGTTATATTATGTTATATATAAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02886.hp2 HG02970.hp2 others(1): Show HG02257.hp1 HG02886.hp2 HG02970.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0002t0002g0008 others(1): Show a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0002t0002g0008 a0001c0002t0002g0123	4	370	0.0108	27	c.165 others(42): Show c.165-679_165-678insTATATGTTATATTATGTTATATATAAC	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7			chr10	TogoVar
CABLES2_chr20_62383634_62412285	62397927	T T	TGGTGGTG others(20): Show TGGTGGTGATGGTGGTGGTGGTGATGGC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02273.hp2 HG02300.hp2 HG01978.hp1 HG02273.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0204 a0001c0001t0001g0038 a0001c0001t0001g0204	3	199	0.0151	27	c.363 others(44): Show c.363-1336_363-1335insGCCATCACCACCACCACCATCACCACC	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar

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