Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
CCSER1_chr4_90122394_91610295	90811995	C C	CACACACA others(9): Show CACACACACATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0015 a0001c0003t0002g0015	1	38	0.0263	16	c.201 others(35): Show c.2011-3766_2011-3765insCACACACATATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90898269	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0003 a0001c0001t0011g0003	1	38	0.0263	16	c.209 others(37): Show c.2095-25086_2095-25071dupTTTTTTTTTTTTTTTT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	90937480	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02717.hp2 HG01884.hp1 HG01884.hp2 HG02717.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0005 a0002c0002t0001 a0003c0005t0010 a0001c0001t0005 a0002c0002t0001 a0003c0005t0010	a0001c0001t0005g0017 a0002c0002t0001g0006 a0003c0005t0010g0004 a0001c0001t0005g0017 a0002c0002t0001g0006 a0003c0005t0010g0004	3	38	0.0790	16	c.217 others(37): Show c.2172+14041_2172+14056dupCACACACACACACACA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91296483	A A	ATATATAT others(9): Show ATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0018 a0004c0004t0004g0018	1	38	0.0263	16	c.221 others(39): Show c.2217+210492_2217+210493insATATATATTTATTTAT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91297385	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0033 a0001c0001t0020g0033	1	38	0.0263	16	c.221 others(39): Show c.2217+211415_2217+211430dupGTGTGTGTGTGTGTGT	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91317589	C C	CGTGTGTG others(9): Show CGTGTGTGTGTGTGCGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02723.hp1 others(5): Show HG01884.hp2 HG02258.hp2 HG02723.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp1 HG03139.hp2 HG03516.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0006c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0003t0002 a0002c0002t0003 a0006c0006t0016	a0001c0001t0002g0027 a0001c0001t0005g0017 a0001c0001t0008g0038 others(5): Show a0001c0001t0002g0027 a0001c0001t0005g0017 a0001c0001t0008g0038 a0001c0001t0009g0037 a0001c0003t0002g0015 a0001c0003t0002g0026 a0002c0002t0003g0013 a0006c0006t0016g0020	8	38	0.2105	16	c.221 others(39): Show c.2217+231611_2217+231626dupTGTGTGTGTGTGTGCG	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91392363	G G	GCACACAC others(9): Show GCACACACGCACACACA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02723.hp2 HG02886.hp1 others(5): Show HG01884.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG03239.hp1 HG03516.hp2 NA18906.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0002 a0003c0005 others(2): Show a0001c0001 a0002c0002 a0003c0005 a0004c0004 a0006c0006	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(5): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0002c0002t0008 a0003c0005t0005 a0003c0005t0010 a0004c0004t0004 a0006c0006t0016	a0001c0001t0004g0022 a0001c0001t0006g0023 a0001c0001t0009g0037 others(5): Show a0001c0001t0004g0022 a0001c0001t0006g0023 a0001c0001t0009g0037 a0002c0002t0008g0030 a0003c0005t0005g0011 a0003c0005t0010g0004 a0004c0004t0004g0018 a0006c0006t0016g0020	8	38	0.2105	16	c.221 others(39): Show c.2218-206202_2218-206201insGCACACACACACACAC	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER1_chr4_90122394_91610295	91411491	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0010	a0003c0005t0010g0004 a0003c0005t0010g0004	1	38	0.0263	16	c.221 others(39): Show c.2218-187061_2218-187046dupTATATATATATATATA	CCSER1	ENSG00000184305.16	transcript	ENST00000509176.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
CCSER2_chr10_84323589_84523517	84385004	A A	AACACACA others(9): Show AACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 NA18994.hp1 NA19065.hp2 HG02622.hp1 NA18994.hp1 NA19065.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0004 a0002c0002 a0002c0003 a0003c0004	a0002c0002t0005 a0002c0003t0006 a0003c0004t0007 a0002c0002t0005 a0002c0003t0006 a0003c0004t0007	a0002c0002t0005g0082 a0002c0003t0006g0020 a0003c0004t0007g0070 a0002c0002t0005g0082 a0002c0003t0006g0020 a0003c0004t0007g0070	3	370	0.0081	16	c.161 others(37): Show c.1614+11204_1614+11219dupACACACACACACACAC	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84394385	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	370	0.0027	16	c.161 others(37): Show c.1614+20594_1614+20609dupGTGTGTGTGTGTGTGT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84419364	A A	AAAAAAAA others(9): Show AAAAAAAAAATAAAAAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG03516.hp1 HG02622.hp1 HG02886.hp2 HG03516.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0070 a0003c0004t0007g0071 a0003c0004t0007g0072 a0003c0004t0007g0070 a0003c0004t0007g0071 a0003c0004t0007g0072	3	370	0.0081	16	c.170 others(35): Show c.1705+1507_1705+1508insAAAAATAAAAATAAAA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84419364	A A	AAAAATAA others(9): Show AAAAATAAAATAAAAAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01934.hp2 HG02055.hp1 others(20): Show HG01496.hp2 HG01934.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp2 HG02273.hp1 HG02559.hp2 HG02615.hp2 HG02809.hp2 HG02897.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp1 NA18969.hp2 NA18975.hp1 NA18979.hp1 NA18999.hp1 NA19010.hp1 NA19030.hp2 NA19065.hp2 NA19078.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0002c0003 a0003c0004 a0002c0002 a0002c0003 a0003c0004	a0002c0002t0003 a0002c0003t0006 a0003c0004t0007 others(1): Show a0002c0002t0003 a0002c0003t0006 a0003c0004t0007 a0003c0004t0019	a0002c0002t0003g0360 a0002c0003t0006g0012 a0002c0003t0006g0014 others(20): Show a0002c0002t0003g0360 a0002c0003t0006g0012 a0002c0003t0006g0014 a0002c0003t0006g0015 a0002c0003t0006g0016 a0002c0003t0006g0017 a0002c0003t0006g0018 a0002c0003t0006g0019 a0002c0003t0006g0020 a0002c0003t0006g0022 a0002c0003t0006g0023 a0002c0003t0006g0024 a0002c0003t0006g0026 a0002c0003t0006g0027 a0003c0004t0007g0042 a0003c0004t0007g0043 a0003c0004t0007g0045 a0003c0004t0007g0046 a0003c0004t0007g0047 a0003c0004t0007g0048 a0003c0004t0007g0049 a0003c0004t0007g0341 a0003c0004t0019g0044	23	370	0.0622	16	c.170 others(35): Show c.1705+1516_1705+1517insAATAAAATAAAATAAA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84483953	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0083 a0002c0002t0005g0083	1	370	0.0027	16	c.232 others(35): Show c.2325+6318_2325+6333dupTATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84506796	A A	AAAATAAA others(9): Show AAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01074.hp1 HG01081.hp1 others(20): Show HG00733.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01952.hp1 HG02257.hp1 HG02451.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03471.hp2 HG03486.hp2 HG03704.hp1 NA19054.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0006 a0001c0014 others(1): Show a0001c0001 a0001c0006 a0001c0014 a0005c0007	a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0006t0002 a0001c0014t0002 a0005c0007t0002	a0001c0001t0002g0001 a0001c0001t0002g0028 a0001c0001t0002g0040 others(19): Show a0001c0001t0002g0001 a0001c0001t0002g0028 a0001c0001t0002g0040 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0327 a0001c0001t0009g0002 a0001c0001t0009g0007 a0001c0001t0013g0058 a0001c0006t0002g0145 a0001c0006t0002g0146 a0001c0014t0002g0217 a0005c0007t0002g0052	23	370	0.0622	16	c.232 others(35): Show c.2326-6636_2326-6621dupAAATAAATAAATAAAT	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCSER2_chr10_84323589_84523517	84506799	A A	ATAAATAA others(9): Show ATAAATAAATAAATAAC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0330	1	370	0.0027	16	c.232 others(35): Show c.2326-6635_2326-6634insCTAAATAAATAAATAA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CCS_chr11_66588185_66611019	66595116	C C	CTGTTTCT others(9): Show CTGTTTCTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	404	0.0025	16	c.112 others(33): Show c.112+1405_112+1406insTTCTTCTTCTTCTTGT	CCS	ENSG00000173992.9	transcript	ENST00000533244.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
CCT2_chr12_69580459_69606570	69580494	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG03540.hp1 NA18985.hp1 HG02809.hp1 HG03540.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0004 a0001c0001t0001g0034	3	410	0.0073	16	c.-50 others(27): Show c.-5028_-5027insTTTTTTTTTTTTTTTT	CCT2	ENSG00000166226.13	transcript	ENST00000299300.11	protein_coding		4964		chr12	TogoVar
CCT4_chr2_61863085_61893656	61883773	G G	GACAGACA others(9): Show GACAGACACACACACAC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	414	0.0024	16	c.181 others(31): Show c.181-226_181-225insGTGTGTGTGTGTCTGT	CCT4	ENSG00000115484.15	transcript	ENST00000394440.8	protein_coding	2/13			chr2	TogoVar
CCT7_chr2_73229308_73258005	73252324	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	378	0.0027	16	c.141 others(33): Show c.1411-304_1411-289dupTATATATATATATATA	CCT7	ENSG00000135624.17	transcript	ENST00000258091.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCZ1B_chr7_6793937_6831275	6804424	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01192.hp1 HG01358.hp2 others(16): Show HG01081.hp1 HG01192.hp1 HG01358.hp2 HG02083.hp2 HG02135.hp1 HG02976.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18947.hp1 NA18952.hp2 NA18953.hp1 NA18971.hp1 NA18991.hp2 NA19070.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0001 a0002c0003 a0003c0004 others(2): Show a0001c0001 a0002c0003 a0003c0004 a0004c0013 a0010c0018	a0001c0001t0002 a0002c0003t0003 a0002c0003t0005 others(3): Show a0001c0001t0002 a0002c0003t0003 a0002c0003t0005 a0003c0004t0006 a0004c0013t0004 a0010c0018t0003	a0001c0001t0002g0195 a0002c0003t0003g0021 a0002c0003t0003g0120 others(14): Show a0001c0001t0002g0195 a0002c0003t0003g0021 a0002c0003t0003g0120 a0002c0003t0003g0124 a0002c0003t0003g0128 a0002c0003t0003g0139 a0002c0003t0003g0140 a0002c0003t0003g0157 a0002c0003t0003g0162 a0002c0003t0003g0177 a0002c0003t0005g0144 a0002c0003t0005g0175 a0003c0004t0006g0006 a0003c0004t0006g0031 a0003c0004t0006g0034 a0004c0013t0004g0185 a0010c0018t0003g0134	19	354	0.0537	16	c.110 others(33): Show c.1106+513_1106+514insTTTTTTTTTTTTTTTT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	12/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6818712	C C	CAAGAAAG others(9): Show CAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02976.hp2 others(2): Show HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03453.hp2 HG03579.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0006 a0003c0004t0006g0031 a0003c0004t0006g0032 others(1): Show a0003c0004t0006g0006 a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033	5	354	0.0141	16	c.698 others(33): Show c.698+1038_698+1053dupTCTTTCTTTCTTTCTT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	7/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6819237	A A	ATTTTCTC others(9): Show ATTTTCTCTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0004 a0004c0013t0004	a0004c0013t0004g0185 a0004c0013t0004g0185	1	354	0.0028	16	c.698 others(31): Show c.698+528_698+529insAAAAAAAAAGAGAAAA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	7/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6825641	C C	CCACACAC others(9): Show CCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(15): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG01123.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG02040.hp2 HG02922.hp1 NA18952.hp2 NA18969.hp2 NA18984.hp1 NA18994.hp2 NA18997.hp2 NA19006.hp1 NA19072.hp1 NA19082.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0003 a0011c0007 a0001c0001 a0002c0003 a0011c0007	a0001c0001t0002 a0002c0003t0003 a0011c0007t0006 a0001c0001t0002 a0002c0003t0003 a0011c0007t0006	a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 others(15): Show a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0002c0003t0003g0106 a0002c0003t0003g0161 a0002c0003t0003g0162 a0002c0003t0003g0163 a0002c0003t0003g0164 a0002c0003t0003g0165 a0002c0003t0003g0166 a0002c0003t0003g0167 a0002c0003t0003g0169 a0002c0003t0003g0170 a0011c0007t0006g0168	18	354	0.0509	16	c.120 others(31): Show c.120+421_120+436dupTGTGTGTGTGTGTGTG	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding	1/14			chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6828278	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01346.hp2 HG02132.hp1 others(3): Show HG01081.hp1 HG01346.hp2 HG02132.hp1 HG02135.hp2 HG03710.hp1 NA18964.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0002 a0001c0001t0004 a0004c0013t0004 a0001c0001t0002 a0001c0001t0004 a0004c0013t0004	a0001c0001t0002g0233 a0001c0001t0002g0271 a0001c0001t0002g0272 others(3): Show a0001c0001t0002g0233 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0288 a0001c0001t0004g0190 a0004c0013t0004g0185	6	354	0.0170	16	c.-20 others(27): Show c.-2082_-2081insTTTTTTTTTTTTTTTT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		2004		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830651	T T	TTATATAT others(9): Show TTATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01192.hp1 others(20): Show HG00099.hp1 HG00735.hp1 HG01192.hp1 HG01358.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG02135.hp1 HG02523.hp1 HG02602.hp2 HG02717.hp2 HG03239.hp2 HG03453.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG04115.hp2 NA18943.hp2 NA18947.hp2 NA18963.hp1 NA18984.hp1 NA19086.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0009 a0002c0003 others(1): Show a0001c0001 a0001c0009 a0002c0003 a0003c0004	a0001c0001t0002 a0001c0001t0004 a0001c0009t0004 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0009t0004 a0002c0003t0003 a0002c0003t0005 a0003c0004t0006	a0001c0001t0002g0281 a0001c0001t0004g0179 a0001c0009t0004g0109 others(19): Show a0001c0001t0002g0281 a0001c0001t0004g0179 a0001c0009t0004g0109 a0002c0003t0003g0023 a0002c0003t0003g0110 a0002c0003t0003g0112 a0002c0003t0003g0113 a0002c0003t0003g0118 a0002c0003t0003g0120 a0002c0003t0003g0145 a0002c0003t0003g0154 a0002c0003t0003g0155 a0002c0003t0003g0156 a0002c0003t0003g0164 a0002c0003t0003g0177 a0002c0003t0005g0004 a0002c0003t0005g0138 a0002c0003t0005g0143 a0002c0003t0005g0144 a0002c0003t0005g0175 a0003c0004t0006g0006 a0003c0004t0006g0031	23	354	0.0650	16	c.-44 others(27): Show c.-4455_-4454insTATATATATATATATA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4377		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830651	T T	TTTTTTAT others(9): Show TTTTTTATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0004 a0004c0013t0004	a0004c0013t0004g0185 a0004c0013t0004g0185	1	354	0.0028	16	c.-44 others(27): Show c.-4455_-4454insTATATATATATAAAAA	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4377		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830711	G G	GACACACA others(9): Show GACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0182 a0003c0004t0013g0182	1	354	0.0028	16	c.-45 others(27): Show c.-4515_-4514insGTGTGTGTGTGTGTGT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4437		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830739	C C	CACACACA others(9): Show CACACACACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0133 a0002c0003t0003g0133	1	354	0.0028	16	c.-45 others(27): Show c.-4543_-4542insATATGTGTGTGTGTGT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4465		chr7	TogoVar
CCZ1B_chr7_6793937_6831275	6830739	C C	CACACATA others(9): Show CACACATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0003 a0010c0018t0003	a0010c0018t0003g0134 a0010c0018t0003g0134	1	354	0.0028	16	c.-45 others(27): Show c.-4543_-4542insATATATATATATGTGT	CCZ1B	ENSG00000146574.16	transcript	ENST00000316731.13	protein_coding		4465		chr7	TogoVar
CCZ1_chr7_5893733_5931550	5895603	T T	TTTTATTT others(9): Show TTTTATTTATTTATCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG03471.hp1 NA18747.hp2 others(1): Show HG01175.hp2 HG03471.hp1 NA18747.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0016 a0002c0002t0001 a0002c0002t0016	a0002c0002t0001g0032 a0002c0002t0001g0089 a0002c0002t0001g0098 others(1): Show a0002c0002t0001g0032 a0002c0002t0001g0089 a0002c0002t0001g0098 a0002c0002t0016g0088	4	114	0.0351	16	c.-31 others(27): Show c.-3197_-3196insTTTATTTATTTATCTA	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding		3129		chr7	TogoVar
CCZ1_chr7_5893733_5931550	5895603	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02165.hp2 HG02523.hp1 others(1): Show HG02027.hp1 HG02165.hp2 HG02523.hp1 NA19010.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0002 a0006c0009t0021 a0001c0001t0002 a0006c0009t0021	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0050 others(1): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0050 a0006c0009t0021g0053	4	114	0.0351	16	c.-31 others(27): Show c.-3197_-3196insTTTATTTATTTATTTA	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding		3129		chr7	TogoVar
CCZ1_chr7_5893733_5931550	5895603	T T	TTTTTTTT others(9): Show TTTTTTTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG03225.hp1 HG02109.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0055 a0001c0001t0002g0056	2	114	0.0175	16	c.-31 others(27): Show c.-3197_-3196insTTTTTTTATTTATTTA	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding		3129		chr7	TogoVar
CCZ1_chr7_5893733_5931550	5920470	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp2 NA19010.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0050 a0001c0001t0004g0102 a0001c0001t0002g0050 a0001c0001t0004g0102	2	114	0.0175	16	c.110 others(33): Show c.1106+506_1106+521dupTTTTTTTTTTTTTTTT	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
CD101_chr1_116996760_117041552	116999064	C C	CTTTATTT others(9): Show CTTTATTTATTTATTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0014 a0014	a0014c0023 a0014c0023	a0014c0023t0003 a0014c0023t0003	a0014c0023t0003g0116 a0014c0023t0003g0116	1	426	0.0024	16	c.-27 others(27): Show c.-2754_-2753insTTTATTTATTTATTTA	CD101	ENSG00000134256.13	transcript	ENST00000682167.1	protein_coding		2695		chr1	TogoVar
CD101_chr1_116996760_117041552	117029194	A A	AGAAAGAA others(9): Show AGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02074.hp1 HG02970.hp1 others(3): Show HG00735.hp1 HG02074.hp1 HG02970.hp1 HG04204.hp2 NA18940.hp1 NA19063.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0003c0005 others(1): Show a0001c0001 a0001c0002 a0003c0005 a0006c0008	a0001c0001t0001 a0001c0002t0001 a0003c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0003c0005t0001 a0006c0008t0001	a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0295 others(3): Show a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0295 a0001c0002t0001g0048 a0003c0005t0001g0312 a0006c0008t0001g0387	6	426	0.0141	16	c.282 others(35): Show c.2824+3302_2824+3303insGAAGGAAAGAAAGAAA	CD101	ENSG00000134256.13	transcript	ENST00000682167.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CD101_chr1_116996760_117041552	117030379	A A	AAAACAAA others(9): Show AAAACAAACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0006 a0001c0031t0006	a0001c0031t0006g0250 a0001c0031t0006g0250	1	426	0.0024	16	c.282 others(35): Show c.2825-3469_2825-3454dupCAAACAAACAAACAAA	CD101	ENSG00000134256.13	transcript	ENST00000682167.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
CD109_chr6_73691203_73833313	73737934	G G	GTCCATCC others(9): Show GTCCATCCATCCATCCA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp2 HG02723.hp1 HG03098.hp2	a0026 a0031 a0026 a0031	a0026c0042 a0031c0043 a0026c0042 a0031c0043	a0026c0042t0042 a0031c0043t0004 a0026c0042t0042 a0031c0043t0004	a0026c0042t0042g0359 a0031c0043t0004g0011 a0026c0042t0042g0359 a0031c0043t0004g0011	2	362	0.0055	16	c.633 others(33): Show c.633+1440_633+1441insCATCCATCCATCCATC	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD109_chr6_73691203_73833313	73791136	C C	CACACACA others(9): Show CACACACACATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0033 a0001c0012t0033	a0001c0012t0033g0254 a0001c0012t0033g0254	1	362	0.0028	16	c.270 others(35): Show c.2702-1489_2702-1488insCACACACATATATATA	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	22/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD109_chr6_73691203_73833313	73791190	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0030 a0030	a0030c0048 a0030c0048	a0030c0048t0022 a0030c0048t0022	a0030c0048t0022g0333 a0030c0048t0022g0333	1	362	0.0028	16	c.270 others(35): Show c.2702-1435_2702-1434insTATATATATATATACA	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	22/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD109_chr6_73691203_73833313	73791194	T T	TATATATA others(9): Show TATATATATACACATAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA19043.hp1 HG02280.hp1 NA19043.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0237 a0001c0012t0003g0249 a0001c0012t0003g0237 a0001c0012t0003g0249	2	362	0.0055	16	c.270 others(35): Show c.2702-1423_2702-1422insCACATACATATATATA	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	22/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD109_chr6_73691203_73833313	73802305	A A	ATATATAT others(9): Show ATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp1 HG02895.hp1 HG03540.hp1	a0004 a0008 a0004 a0008	a0004c0005 a0008c0011 a0004c0005 a0008c0011	a0004c0005t0015 a0008c0011t0052 a0004c0005t0015 a0008c0011t0052	a0004c0005t0015g0077 a0008c0011t0052g0298 a0004c0005t0015g0077 a0008c0011t0052g0298	2	362	0.0055	16	c.287 others(33): Show c.2879-914_2879-913insATATATATATTTTTTT	CD109	ENSG00000156535.15	transcript	ENST00000287097.6	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr6	TogoVar
CD163L1_chr12_7349960_7449153	7389960	T T	TTATATAT others(9): Show TTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02451.hp1 HG01261.hp1 HG02451.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0002 a0010c0018t0001 a0010c0018t0002	a0010c0018t0001g0355 a0010c0018t0002g0356 a0010c0018t0001g0355 a0010c0018t0002g0356	2	384	0.0052	16	c.205 others(35): Show c.2050+6119_2050+6134dupTATATATATATATATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	8/19			chr12	TogoVar
CD163L1_chr12_7349960_7449153	7389960	T T	TTATATAT others(9): Show TTATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02145.hp2 others(6): Show HG01167.hp1 HG01169.hp1 HG02145.hp2 HG02258.hp2 HG02559.hp2 HG02647.hp1 HG02922.hp1 HG03579.hp1 NA21309.hp2	a0006 a0011 a0006 a0011	a0006c0009 a0006c0034 a0011c0042 others(1): Show a0006c0009 a0006c0034 a0011c0042 a0011c0043	a0006c0009t0001 a0006c0009t0002 a0006c0034t0001 others(2): Show a0006c0009t0001 a0006c0009t0002 a0006c0034t0001 a0011c0042t0002 a0011c0043t0001	a0006c0009t0001g0032 a0006c0009t0001g0033 a0006c0009t0001g0111 others(5): Show a0006c0009t0001g0032 a0006c0009t0001g0033 a0006c0009t0001g0111 a0006c0009t0002g0010 a0006c0009t0002g0226 a0006c0034t0001g0118 a0011c0042t0002g0354 a0011c0043t0001g0353	9	384	0.0234	16	c.205 others(35): Show c.2050+6134_2050+6135insTAAATATATATATATA	CD163L1	ENSG00000177675.9	transcript	ENST00000313599.8	protein_coding	8/19			chr12	TogoVar
CD163_chr12_7465811_7508777	7483811	T T	TTATATAT others(9): Show TTATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA18980.hp2 HG00609.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0050 a0001c0003t0001g0052 a0001c0003t0001g0050 a0001c0003t0001g0052	2	428	0.0047	16	c.278 others(33): Show c.2780-137_2780-136insCATATATATATATATA	CD163	ENSG00000177575.13	transcript	ENST00000432237.3	protein_coding	11/16			chr12	TogoVar
CD163_chr12_7465811_7508777	7483825	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0176	1	428	0.0023	16	c.278 others(33): Show c.2780-166_2780-151dupTATATATATATATATA	CD163	ENSG00000177575.13	transcript	ENST00000432237.3	protein_coding	11/16			chr12	TogoVar
CD163_chr12_7465811_7508777	7483830	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02451.hp1 HG01261.hp1 HG02451.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0215 a0005c0010t0001g0216 a0005c0010t0001g0215 a0005c0010t0001g0216	2	428	0.0047	16	c.278 others(33): Show c.2780-156_2780-155insGTATATATATATATAT	CD163	ENSG00000177575.13	transcript	ENST00000432237.3	protein_coding	11/16			chr12	TogoVar
CD163_chr12_7465811_7508777	7498146	C C	CACACACA others(9): Show CACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0173 a0005c0010t0001g0173	1	428	0.0023	16	c.778 others(31): Show c.778+721_778+722insCTGTGTGTGTGTGTGT	CD163	ENSG00000177575.13	transcript	ENST00000432237.3	protein_coding	4/16			chr12	TogoVar
CD164_chr6_109361514_109387467	109375617	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01433.hp2 NA19009.hp2 HG00438.hp2 HG01433.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0047 a0001c0001t0005g0106 a0001c0001t0005g0047 a0001c0001t0005g0106	3	448	0.0067	16	c.370 others(31): Show c.370+456_370+457insTTTTTTTTTTTTTTTT	CD164	ENSG00000135535.17	transcript	ENST00000310786.10	protein_coding	4/5			chr6	TogoVar
CD164_chr6_109361514_109387467	109375617	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0103	1	448	0.0022	16	c.370 others(31): Show c.370+456_370+457insTCTTTTTTTTTTTTTT	CD164	ENSG00000135535.17	transcript	ENST00000310786.10	protein_coding	4/5			chr6	TogoVar
CD19_chr16_28926971_28944342	28929879	T T	TAGAGAGA others(9): Show TAGAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	400	0.0025	16	c.-21 others(27): Show c.-2122_-2121insAGAGAGAGAGAGAGAG	CD19	ENSG00000177455.15	transcript	ENST00000538922.8	protein_coding		2091		chr16	TogoVar

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