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
BTAF1_chr10_91918770_92036437	91991271	A A	AATATAAA others(35): Show AATATAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19001.hp1 HG00673.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0002g0292 a0001c0001t0002g0295	2	195	0.0103	42	c.285 others(59): Show c.2855-843_2855-842insAATATATATATATATATATATATATATA TATATATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991271	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0256 a0001c0001t0002g0256	1	194	0.0052	42	c.285 others(59): Show c.2855-827_2855-826insTATATATATATATATATATATATATATA TATATATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	91991279	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0225 a0001c0001t0003g0225	1	253	0.0040	42	c.285 others(59): Show c.2855-827_2855-826insTATATATATATATATATATATATATATA AATATATATATATA	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	20/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTBD1_chr15_83011423_83072252	83042348	T T	TTATATAT others(35): Show TTATATATATATATATATATGTATATATATGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0072 a0001c0001t0005g0072	1	150	0.0067	42	c.665 others(57): Show c.665-424_665-423insTATATATATATACATATATATACATATATA TATATATATATA	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	3/7			chr15	TogoVar
BTBD1_chr15_83011423_83072252	83042359	T T	TATATATA others(35): Show TATATATATGTATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0065 a0001c0001t0005g0065	1	319	0.0031	42	c.665 others(57): Show c.665-435_665-434insGTATATATATATATATATATATATATATAT ATACATATATAT	BTBD1	ENSG00000064726.10	transcript	ENST00000261721.9	protein_coding	3/7			chr15	TogoVar
BTBD9_chr6_38163451_38644929	38374303	A A	ATGTGTAT others(35): Show ATGTGTATATATATATATATATATATGTATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0123 a0001c0001t0031g0123	1	202	0.0050	42	c.115 others(63): Show c.1155-29211_1155-29210insCACATATATATATATACATATATA TATATATATATATACACA	BTBD9	ENSG00000183826.19	transcript	ENST00000481247.6	protein_coding	6/10			chr6	TogoVar
BTNL9_chr5_181035266_181066521	181052896	G G	GGACGCGG others(35): Show GGACGCGGGGCGAGGGCGGGAAGACGCGGGGCGAGGGCGGGAA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03927.hp2 HG03942.hp2 others(1): Show HG03669.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0151 a0001c0007t0007g0175 a0001c0007t0007g0179 others(1): Show a0001c0007t0007g0151 a0001c0007t0007g0175 a0001c0007t0007g0179 a0001c0007t0007g0180	4	379	0.0106	42	c.737 others(57): Show c.737-265_737-264insGAAGACGCGGGGCGAGGGCGGGAAGACGCG GGGCGAGGGCGG	BTNL9	ENSG00000165810.17	transcript	ENST00000327705.14	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
BTRC_chr10_101349165_101562313	101549713	C C	CAAAAAAA others(35): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0171 a0001c0001t0004g0171	1	49	0.0204	42	c.165 others(59): Show c.1657-963_1657-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	BTRC	ENSG00000166167.18	transcript	ENST00000370187.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
C10orf90_chr10_126419997_126675693	126576717	A A	ATTATCTA others(35): Show ATTATCTATATGTATATATACATATACATATATATGTATATGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00597.hp2 others(50): Show HG00280.hp1 HG00423.hp1 HG00597.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01168.hp2 HG01192.hp1 HG01257.hp1 HG01361.hp1 HG01516.hp2 HG01978.hp1 HG01981.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03490.hp1 HG03490.hp2 HG03516.hp2 HG03654.hp1 HG03831.hp2 HG03927.hp2 HG04204.hp2 HG06807.hp2 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19054.hp2 NA19064.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009	a0001c0001 a0001c0008 a0001c0009 others(10): Show a0001c0001 a0001c0008 a0001c0009 a0002c0003 a0002c0004 a0002c0011 a0003c0002 a0003c0013 a0003c0022 a0004c0005 a0006c0007 a0007c0016 a0009c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0008t0001 a0001c0008t0004 a0001c0009t0003 a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0004t0001 a0002c0004t0003 a0002c0004t0004 a0002c0011t0002 a0003c0002t0001 a0003c0002t0002 a0003c0002t0004 a0003c0002t0005 a0003c0013t0003 a0003c0022t0003 a0004c0005t0001 a0006c0007t0001 a0006c0007t0003 a0007c0016t0001 a0009c0023t0001	a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0020 others(50): Show a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0046 a0001c0001t0001g0071 a0001c0001t0001g0088 a0001c0001t0001g0128 a0001c0001t0001g0150 a0001c0001t0002g0018 a0001c0001t0002g0053 a0001c0001t0002g0122 a0001c0001t0002g0131 a0001c0001t0002g0209 a0001c0001t0003g0044 a0001c0001t0003g0076 a0001c0001t0004g0176 a0001c0001t0004g0202 a0001c0008t0001g0068 a0001c0008t0004g0082 a0001c0009t0003g0178 a0002c0003t0001g0047 a0002c0003t0001g0177 a0002c0003t0001g0200 a0002c0003t0003g0049 a0002c0003t0004g0050 a0002c0004t0001g0063 a0002c0004t0001g0113 a0002c0004t0001g0216 a0002c0004t0003g0126 a0002c0004t0004g0217 a0002c0011t0002g0162 a0003c0002t0001g0031 a0003c0002t0001g0054 a0003c0002t0001g0057 a0003c0002t0001g0107 a0003c0002t0001g0108 a0003c0002t0001g0173 a0003c0002t0001g0179 a0003c0002t0002g0034 a0003c0002t0004g0062 a0003c0002t0005g0025 a0003c0002t0005g0169 a0003c0013t0003g0002 a0003c0013t0003g0203 a0003c0022t0003g0156 a0004c0005t0001g0061 a0004c0005t0001g0064 a0004c0005t0001g0194 a0006c0007t0001g0086 a0006c0007t0001g0087 a0006c0007t0003g0114 a0007c0016t0001g0116 a0009c0023t0001g0117	53	183	0.2896	42	c.314 others(61): Show c.314-62779_314-62778insACATATACATATATATGTATATGTAT ATATACATATAGATAA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C10orf90_chr10_126419997_126675693	126576717	A A	ATTATCTA others(35): Show ATTATCTATATGTATATGTACATATACATATATATGTATATGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0147 a0006c0007t0005g0147	1	131	0.0076	42	c.314 others(61): Show c.314-62779_314-62778insACATATACATATATATGTATATGTAC ATATACATATAGATAA	C10orf90	ENSG00000154493.20	transcript	ENST00000488181.3	protein_coding	2/9			chr10	TogoVar
C12orf40_chr12_39621183_39726914	39653558	T T	TTCTTCTT others(35): Show TTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	127	0.0079	42	c.686 others(59): Show c.686+3205_686+3206insCTTCTTCTTCTTTCTTCTTCTTCTTCTT CTTCTTCTTTTTCT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39653558	T T	TTCTTCTT others(35): Show TTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03579.hp2 HG04199.hp1 others(1): Show HG02109.hp2 HG03579.hp2 HG04199.hp1 NA20752.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0011 a0001c0001 a0011c0011	a0001c0001t0001 a0011c0011t0001 a0001c0001t0001 a0011c0011t0001	a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0228 others(1): Show a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0228 a0011c0011t0001g0073	4	130	0.0308	42	c.686 others(59): Show c.686+3205_686+3206insCTTCTTCTTTCTTCTTCTTCTTCTTCTT CTTCTTCTTTTTCT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C12orf40_chr12_39621183_39726914	39653558	T T	TTCTTCTT others(35): Show TTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02965.hp1 HG03927.hp1 others(4): Show HG01952.hp1 HG02965.hp1 HG03927.hp1 NA18906.hp1 NA18969.hp2 NA19001.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0087 a0001c0001t0001g0187 others(4): Show a0001c0001t0001g0042 a0001c0001t0001g0087 a0001c0001t0001g0187 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0229 a0001c0001t0001g0239	7	133	0.0526	42	c.686 others(59): Show c.686+3205_686+3206insCTTCTTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTTTTCT	C12orf40	ENSG00000180116.15	transcript	ENST00000324616.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
C14orf132_chr14_96034362_96098971	96053102	C C	CCCAGGAC others(35): Show CCCAGGACAGCCCCAGGCCAACTGGGAGGGTTTTAAATGGCCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0216 a0001c0001t0002g0216	1	370	0.0027	42	c.27+ others(59): Show c.27+13575_27+13576insCCAGGACAGCCCCAGGCCAACTGGGAGG GTTTTAAATGGCCA	C14orf132	ENSG00000227051.7	transcript	ENST00000555004.3	protein_coding	1/1			chr14	TogoVar
C17orf78_chr17_37370985_37397708	37390308	A A	ATATATAT others(35): Show ATATATATATATATTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	438	0.0023	42	c.750 others(57): Show c.750+959_750+960insTATATATATATATATATATATATATATATT ATATATATATAT	C17orf78	ENSG00000278505.5	transcript	ENST00000615133.2	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
C18orf63_chr18_74310839_74364189	74361702	T T	TTATAATT others(35): Show TTATAATTATATATTATATATAATATAATTATATAATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG03209.hp2 HG03579.hp1 HG02451.hp1 HG03209.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0041 a0001c0001t0014g0112 a0001c0001t0014g0041 a0001c0001t0014g0112	3	335	0.0090	42	c.52 others(53): Show c.5255_*5256insTATAATTATATATTATATATAATATAATTATATA ATATATAA	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2514		chr18	TogoVar
C19orf38_chr19_10843415_10874790	10871571	T T	TGCGGCGG others(35): Show TGCGGCGGCGGTAGCGGCAGCGGCGGCGGCGGCGGCGGCGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0179 a0001c0004t0001g0179	1	381	0.0026	42	c.22 others(53): Show c.2204_*2205insGCGGCGGCGGTAGCGGCAGCGGCGGCGGCGGCGG CGGCGGCG	C19orf38	ENSG00000214212.9	transcript	ENST00000397820.5	protein_coding		1782		chr19	TogoVar
C1GALT1_chr7_7177544_7253616	7181213	G G	GTTGCGGA others(35): Show GTTGCGGAAAGGTGGAAGGATATTGCGGAAAGGTGGAAGGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01256.hp2 HG01516.hp1 others(13): Show HG00140.hp1 HG01256.hp2 HG01516.hp1 HG02055.hp2 HG02280.hp2 HG02572.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02818.hp1 HG02922.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03831.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 others(4): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0032 a0001c0001t0035 a0001c0001t0045	a0001c0001t0007g0017 a0001c0001t0009g0097 a0001c0001t0010g0002 others(8): Show a0001c0001t0007g0017 a0001c0001t0009g0097 a0001c0001t0010g0002 a0001c0001t0010g0043 a0001c0001t0010g0067 a0001c0001t0010g0068 a0001c0001t0010g0069 a0001c0001t0020g0066 a0001c0001t0032g0108 a0001c0001t0035g0082 a0001c0001t0045g0070	16	303	0.0528	42	c.-16 others(53): Show c.-1625_-1624insTTGCGGAAAGGTGGAAGGATATTGCGGAAAGGTG GAAGGATA	C1GALT1	ENSG00000106392.11	transcript	ENST00000436587.7	protein_coding		1330		chr7	TogoVar
C1GALT1_chr7_7177544_7253616	7181232	A A	ATATTGCG others(35): Show ATATTGCGGAAAGGTGGAAGGATATTGCGGAAAGGTGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0107 a0001c0001t0019g0107	1	390	0.0026	42	c.-16 others(53): Show c.-1606_-1605insTATTGCGGAAAGGTGGAAGGATATTGCGGAAAGG TGGAAGGG	C1GALT1	ENSG00000106392.11	transcript	ENST00000436587.7	protein_coding		1311		chr7	TogoVar
C1QTNF12_chr1_1237453_1251722	1240688	C C	CCCCCATT others(35): Show CCCCCATTCACCCCGGCCGTGGTCCCTGCCCCAGCCCCCGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	326	0.0031	42	c.18 others(53): Show c.1859_*1860insCGGCGGGGGCTGGGGCAGGGACCACGGCCGGGGT GAATGGGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		1764		chr1	TogoVar
C1QTNF9_chr13_24304580_24327531	24309283	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 NA18948.hp1 NA18960.hp2 HG02735.hp2 NA18948.hp1 NA18960.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0002c0002t0001g0020 a0001c0001t0001g0003 a0002c0002t0001g0020	3	121	0.0248	42	c.-35 others(51): Show c.-356_-355insTATATATATATATATATATATATATATATATATATA TATATA	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		296		chr13	TogoVar
C1QTNF9_chr13_24304580_24327531	24309283	T T	TTTTATAT others(35): Show TTTTATATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	1	119	0.0084	42	c.-35 others(51): Show c.-356_-355insTTTATATATATATATATATATATATATATATATATA TATATA	C1QTNF9	ENSG00000240654.6	transcript	ENST00000332018.5	protein_coding		296		chr13	TogoVar
C1S_chr12_7055718_7076032	7074373	T T	TTTCTGGG others(35): Show TTTCTGGGCATCTGCCTATTCATGGATAAAATGAAAATGTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0006 a0009c0013t0001g0006	1	368	0.0027	42	c.37 others(53): Show c.3722_*3723insTTCTGGGCATCTGCCTATTCATGGATAAAATGAA AATGTTTC	C1S	ENSG00000182326.17	transcript	ENST00000360817.10	protein_coding		3342		chr12	TogoVar
C1orf100_chr1_244347635_244394663	244369751	T T	TGTGGGAA others(35): Show TGTGGGAAGAACTGGTTAGGACTAGGTGTGGTGTTTGCATAAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19070.hp1 HG02015.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0171 a0001c0001t0001g0125 a0001c0001t0001g0171	2	450	0.0044	42	c.56+ others(57): Show c.56+5024_56+5025insGTGTTTGCATAACGTGGGAAGAACTGGTTA GGACTAGGTGTG	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf100_chr1_244347635_244394663	244369755	G G	GGAAGAAC others(35): Show GGAAGAACTGGTTAGGACTAGGTGTGGTGTTTGCATAACGTGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00621.hp1 others(59): Show HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01123.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp1 HG02486.hp1 HG02572.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp1 HG03225.hp2 HG03516.hp1 HG03540.hp2 NA18906.hp1 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18964.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18992.hp2 NA19000.hp1 NA19005.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0003c0004t0002	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 others(59): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0224 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0303 a0001c0001t0001g0307 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0330 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0129 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0172 a0001c0001t0002g0342 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0149 a0001c0001t0003g0155 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0165 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0237 a0001c0001t0003g0333 a0001c0001t0004g0015 a0003c0004t0002g0020	62	450	0.1378	42	c.56+ others(57): Show c.56+5024_56+5025insGTGTTTGCATAACGTGAGAAGAACTGGTTA GGACTAGGTGTG	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf100_chr1_244347635_244394663	244373332	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19000.hp2 NA19010.hp2 NA18966.hp1 NA19000.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0281 a0001c0001t0001g0306 a0001c0001t0001g0235 a0001c0001t0001g0281 a0001c0001t0001g0306	3	135	0.0222	42	c.57- others(57): Show c.57-2023_57-2022insATATATATATATATATATATATATATATAT ATATATATATAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf100_chr1_244347635_244394663	244373332	T T	TTTTATAT others(35): Show TTTTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18941.hp1 NA18957.hp2 others(2): Show HG00609.hp2 NA18941.hp1 NA18957.hp2 NA18979.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0177 a0001c0001t0001g0205 a0001c0001t0001g0243 others(2): Show a0001c0001t0001g0177 a0001c0001t0001g0205 a0001c0001t0001g0243 a0001c0001t0002g0029 a0001c0001t0003g0031	5	137	0.0365	42	c.57- others(57): Show c.57-2039_57-2038insTTATATATATATATATATATATATATATAT ATATATATATAT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184386789	C C	CCACACAC others(35): Show CCACACACACACACACACACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0095 a0001c0001t0019g0146 a0001c0001t0019g0095 a0001c0001t0019g0146	2	38	0.0526	42	c.-70 others(51): Show c.-704_-703insCACACACACACACACACACACACACACACACACACA CACACA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding		239		chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410630	T T	TATAATAT others(35): Show TATAATATATATATTATATATATATATTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	197	0.0051	42	c.-12 others(63): Show c.-125+23265_-125+23266insATATATATATTATATATATATATT ATATATATATATATAATA	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410631	A A	AATATATA others(35): Show AATATATATATATTATATATATATATATAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02818.hp1 HG02280.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0055 a0001c0001t0018 a0001c0001t0055	a0001c0001t0018g0023 a0001c0001t0055g0022 a0001c0001t0018g0023 a0001c0001t0055g0022	2	229	0.0087	42	c.-12 others(63): Show c.-125+23263_-125+23264insATATATATATATTATATATATATA TATAATATATATATATAT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5			chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410633	A A	AATATATA others(35): Show AATATATATATATTATATATATATATATAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02922.hp1 HG03471.hp1 HG02615.hp2 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0067 a0001c0001t0001 a0001c0001t0027 a0001c0001t0067	a0001c0001t0001g0226 a0001c0001t0027g0231 a0001c0001t0067g0150 a0001c0001t0001g0226 a0001c0001t0027g0231 a0001c0001t0067g0150	3	212	0.0142	42	c.-12 others(63): Show c.-125+23265_-125+23266insATATATATATATTATATATATATA TATAATATATATATATAT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5			chr1	TogoVar
C1orf87_chr1_59985394_60078770	60065003	T T	TAAATATA others(35): Show TAAATATATATATTTAATATATATAAAATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02976.hp2 HG03195.hp2 others(2): Show HG01891.hp2 HG02976.hp2 HG03195.hp2 HG03516.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0005c0007t0002 a0001c0001t0001 a0005c0007t0002	a0001c0001t0001g0273 a0005c0007t0002g0270 a0005c0007t0002g0271 others(2): Show a0001c0001t0001g0273 a0005c0007t0002g0270 a0005c0007t0002g0271 a0005c0007t0002g0272 a0005c0007t0002g0274	5	177	0.0282	42	c.107 others(59): Show c.107+7533_107+7534insTATATATTTTATATATTTTATATATATT AAATATATATATTT	C1orf87	ENSG00000162598.13	transcript	ENST00000371201.3	protein_coding	2/11			chr1	TogoVar
C22orf42_chr22_32144006_32164303	32146169	A A	ATATATAT others(35): Show ATATATATTATTATATAATATAATATATTATATATTATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	372	0.0027	42	c.33 others(53): Show c.3370_*3371insATATAATAATATATAATATATTATATTATATAAT AATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2836		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32146610	A A	ATATAGTA others(35): Show ATATAGTATATAATATATATATTATATGGTATATAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0019 a0002c0002t0002g0019	3	393	0.0076	42	c.29 others(53): Show c.2929_*2930insATATATATTATATACCATATAATATATATATTAT ATACTATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		2395		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0034 a0003c0003t0002g0034	1	114	0.0088	42	c.16 others(53): Show c.1637_*1638insAAAAAAAAAAAAAATATATATATATATATATATA TATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0034 a0003c0003t0002g0034	1	114	0.0088	42	c.16 others(53): Show c.1637_*1638insAAAAAAAAAAAAAAAATATATATATATATATATA TATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C2CD3_chr11_74007718_74176002	74116841	T T	TACACGTG others(35): Show TACACGTGTATATGTGTATATACACGTGTATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0214 a0002c0003t0001g0214	1	316	0.0032	42	c.152 others(61): Show c.1520+1345_1520+1386dupGTATATATACATATACACGTGTATAT ACACATATACACGTGT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117048	G G	GTATATAT others(35): Show GTATATATATATGAATATATATATATGAATATATATATATGAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0048 a0004c0004t0001g0048	1	138	0.0072	42	c.152 others(61): Show c.1520+1179_1520+1180insTTCATATATATATATTCATATATATA TATTCATATATATATA	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2CD3_chr11_74007718_74176002	74117075	A A	AATATATA others(35): Show AATATATATATGAATATATATATATGAATATATATATATGAAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	231	0.0043	42	c.152 others(61): Show c.1520+1111_1520+1152dupATTCATATATATATATTCATATATAT ATATTCATATATATAT	C2CD3	ENSG00000168014.18	transcript	ENST00000334126.12	protein_coding	9/32			chr11	TogoVar
C2orf16_chr2_27532386_27587722	27557917	A A	ATCCCCCC others(35): Show ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCC	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA19004.hp1 HG02083.hp2 NA19004.hp1	a0002 a0030 a0002 a0030	a0002c0002 a0030c0031 a0002c0002 a0030c0031	a0002c0002t0001 a0030c0031t0001 a0002c0002t0001 a0030c0031t0001	a0002c0002t0001g0216 a0030c0031t0001g0221 a0002c0002t0001g0216 a0030c0031t0001g0221	2	230	0.0087	42	c.145 others(59): Show c.145-7420_145-7419insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGACCCCC	C2orf16	ENSG00000221843.6	transcript	ENST00000447166.3	protein_coding	1/4			chr2	TogoVar
C2orf69_chr2_199906293_199933273	199922029	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	389	0.0026	42	c.334 others(59): Show c.334-3032_334-3031insATATATATATATATATATATATATATAT ATATATATATATAT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C2orf69_chr2_199906293_199933273	199922031	T T	TTATATAT others(35): Show TTATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18950.hp2 NA19062.hp2 HG00642.hp1 NA18950.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0003 a0001c0002t0002 a0001c0011t0003 a0001c0001t0003 a0001c0002t0002 a0001c0011t0003	a0001c0001t0003g0169 a0001c0002t0002g0071 a0001c0011t0003g0173 a0001c0001t0003g0169 a0001c0002t0002g0071 a0001c0011t0003g0173	3	65	0.0462	42	c.334 others(59): Show c.334-3008_334-3007insATATATATATATATATATATATATATAT ATATATATATATAT	C2orf69	ENSG00000178074.6	transcript	ENST00000319974.6	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
C4BPB_chr1_207083860_207104993	207085621	T T	TATATATA others(35): Show TATATATATATATATATATATATATATATATATATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	381	0.0026	42	c.-33 others(53): Show c.-3376_-3375insATATATATATATATATATATATATATATATATAT ATATATAA	C4BPB	ENSG00000123843.13	transcript	ENST00000367078.8	protein_coding		3238		chr1	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(35): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	55	0.0182	42	c.715 others(59): Show c.715-1621_715-1620insATATATATATATATATATATATATATAT TTTTTTTTTTTTTT	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C7orf50_chr7_992006_1143247	1000277	A A	AGACGTGC others(35): Show AGACGTGCCTGCCCCGCCGTGCACACACCTCAGCCCCCGGGGG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18973.hp1 NA18944.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0109 a0001c0001t0001g0037 a0001c0001t0001g0109	2	324	0.0062	42	c.405 others(57): Show c.405+192_405+193insCCCCCGGGGGCTGAGGTGTGTGCACGGCGG GGCAGGCACGTC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	4/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1016402	G G	GTGCACAG others(35): Show GTGCACAGCAGCACAGCAGCGCACGCCAGCGCACAGCAGCGCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02615.hp2 others(3): Show HG02451.hp2 HG02486.hp1 HG02615.hp2 HG02723.hp1 HG02895.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0001 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0100 a0001c0001t0003g0205 a0001c0001t0003g0207 others(3): Show a0001c0001t0001g0100 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0210 a0001c0001t0003g0243 a0001c0001t0007g0141	6	209	0.0287	42	c.130 others(59): Show c.130-6260_130-6259insTGCGCTGCTGTGCGCTGGCGTGCGCTGC TGTGCTGCTGTGCA	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1044867	G G	GGGGGCGG others(35): Show GGGGGCGGGCTTTCGGTCATTAACCTGGTGATGGCAGCTGAAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	324	0.0031	42	c.130 others(61): Show c.130-34766_130-34725dupATTCAGCTGCCATCACCAGGTTAATG ACCGAAAGCCCGCCCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C7orf57_chr7_48030543_48066297	48051809	T T	TCCTTCCT others(35): Show TCCTTCCTTCCTTTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0042 a0002c0001t0002g0042	1	373	0.0027	42	c.606 others(57): Show c.606-891_606-890insCCTTCCTTCCTTTTCTCTTCTCTTCTCTTC TCTTCTCTTCTC	C7orf57	ENSG00000164746.14	transcript	ENST00000348904.4	protein_coding	6/8			chr7	TogoVar
C8A_chr1_56849797_56923223	56885269	T T	TATAAATA others(35): Show TATAAATATATATTTACATAAATATATATTTATATATATTTAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	364	0.0027	42	c.856 others(57): Show c.856-647_856-606dupATTTACATAAATATATATTTATATATATTT ACATAAATATAT	C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
C8orf58_chr8_22594599_22609142	22599051	G G	GCCCCTAC others(35): Show GCCCCTACCCCTCCTCCTCTCCCCTCCTCGCCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	323	0.0031	42	c.-67 others(51): Show c.-670_-669insCCCCTACCCCTCCTCCTCTCCCCTCCTCGCCTCCCT CTCCCT	C8orf58	ENSG00000241852.11	transcript	ENST00000289989.10	protein_coding		547		chr8	TogoVar

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