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
C1QTNF12_chr1_1237453_1251722	1244755	C C	CCCACTCC others(4): Show CCCACTCCTCAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	326	0.0031	11	c.178 others(26): Show c.178-259_178-258insATGAGGAGTGG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding	1/7			chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1248301	G G	GGAGGCTG others(4): Show GGAGGCTGTACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	326	0.0031	11	c.-16 others(22): Show c.-1612_-1611insGGTACAGCCTC	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		1580		chr1	TogoVar
C1QTNF2_chr5_160342754_160375626	160354591	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	450	0.0022	11	c.244 others(26): Show c.244+176_244+177insATATATATATA	C1QTNF2	ENSG00000145861.9	transcript	ENST00000652664.2	protein_coding	2/2			chr5	TogoVar
C1QTNF2_chr5_160342754_160375626	160354593	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19086.hp1 NA18986.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0041 a0001c0001t0012g0102 a0001c0001t0001g0041 a0001c0001t0012g0102	2	389	0.0051	11	c.244 others(26): Show c.244+174_244+175insATATATATATA	C1QTNF2	ENSG00000145861.9	transcript	ENST00000652664.2	protein_coding	2/2			chr5	TogoVar
C1QTNF2_chr5_160342754_160375626	160354595	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03017.hp2 NA18974.hp2 others(1): Show HG00438.hp2 HG03017.hp2 NA18974.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0197 others(1): Show a0001c0001t0001g0119 a0001c0001t0001g0132 a0001c0001t0001g0197 a0001c0001t0002g0127	4	408	0.0098	11	c.244 others(26): Show c.244+172_244+173insATATATATATA	C1QTNF2	ENSG00000145861.9	transcript	ENST00000652664.2	protein_coding	2/2			chr5	TogoVar
C1QTNF2_chr5_160342754_160375626	160354597	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	299	0.0033	11	c.244 others(26): Show c.244+170_244+171insATATATATATA	C1QTNF2	ENSG00000145861.9	transcript	ENST00000652664.2	protein_coding	2/2			chr5	TogoVar
C1QTNF4_chr11_47584667_47599411	47588719	A A	AGATGTGT others(4): Show AGATGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	91	0.0110	11	c.11 others(22): Show c.1101_*1102insACACACACATC	C1QTNF4	ENSG00000172247.4	transcript	ENST00000302514.4	protein_coding		947		chr11	TogoVar
C1QTNF7_chr4_15423033_15451167	15450575	A A	ACACCCAC others(4): Show ACACCCACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 NA18947.hp1 NA18956.hp1 HG01081.hp2 NA18947.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0081 a0001c0001t0004g0004 a0001c0001t0004g0081	3	400	0.0075	11	c.77 others(22): Show c.7776_*7777insCACCCACACAC	C1QTNF7	ENSG00000163145.13	transcript	ENST00000444304.3	protein_coding		4409		chr4	TogoVar
C1QTNF8_chr16_1083226_1101244	1093456	A A	ACCGCGCG others(4): Show ACCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0060 a0001c0001t0011g0060	1	316	0.0032	11	c.4+ others(22): Show c.4+40_*4+41insCGCGCGCGCGG	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1QTNF8_chr16_1083226_1101244	1093469	C C	CGCGCGCG others(4): Show CGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0039 a0001c0001t0012g0039	1	389	0.0026	11	c.4+ others(22): Show c.4+27_*4+28insCGCGCGCGCGC	C1QTNF8	ENSG00000184471.10	transcript	ENST00000328449.6	protein_coding	4/4			chr16	TogoVar
C1orf100_chr1_244347635_244394663	244361235	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	140	0.0071	11	c.-13 others(28): Show c.-13-3451_-13-3441dupTTTTTTTTTTT	C1orf100	ENSG00000173728.11	transcript	ENST00000308105.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf109_chr1_37676570_37695529	37679973	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18954.hp2 NA18522.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0010 a0001c0001t0002 a0001c0005t0010	a0001c0001t0002g0001 a0001c0005t0010g0191 a0001c0001t0002g0001 a0001c0005t0010g0191	2	176	0.0114	11	c.31 others(22): Show c.3149_*3150insTTTTTTTTTTT	C1orf109	ENSG00000116922.15	transcript	ENST00000486637.2	protein_coding		1596		chr1	TogoVar
C1orf127_chr1_10941475_10987076	10951745	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02155.hp1 HG03453.hp2 others(3): Show HG02145.hp1 HG02155.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03834.hp2	a0003 a0010 a0003 a0010	a0003c0006 a0003c0014 a0010c0018 a0003c0006 a0003c0014 a0010c0018	a0003c0006t0004 a0003c0014t0004 a0010c0018t0004 a0003c0006t0004 a0003c0014t0004 a0010c0018t0004	a0003c0006t0004g0035 a0003c0006t0004g0099 a0003c0006t0004g0342 others(3): Show a0003c0006t0004g0035 a0003c0006t0004g0099 a0003c0006t0004g0342 a0003c0006t0004g0369 a0003c0014t0004g0097 a0010c0018t0004g0335	6	215	0.0279	11	c.110 others(30): Show c.1100-1932_1100-1931insATATATTTTTT	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	10/12			chr1	TogoVar
C1orf127_chr1_10941475_10987076	10951745	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02683.hp2 HG02602.hp1 HG02683.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0202 a0003c0006t0004g0256 a0003c0006t0004g0202 a0003c0006t0004g0256	2	211	0.0095	11	c.110 others(30): Show c.1100-1932_1100-1931insATATATATTTT	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	10/12			chr1	TogoVar
C1orf127_chr1_10941475_10987076	10979264	G G	GATTACAG others(4): Show GATTACAGGTGT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	390	0.0026	11	c.26+ others(26): Show c.26+2737_26+2747dupACACCTGTAAT	C1orf127	ENSG00000175262.15	transcript	ENST00000377004.9	protein_coding	1/12			chr1	TogoVar
C1orf141_chr1_67087165_67139970	67109326	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA20129.hp2 HG03209.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0055 a0002c0002t0002g0231 a0002c0002t0002g0055 a0002c0002t0002g0231	2	11	0.1818	11	c.346 others(28): Show c.346+6015_346+6025dupTTTTTTTTTTT	C1orf141	ENSG00000203963.12	transcript	ENST00000684719.1	protein_coding	5/7			chr1	TogoVar
C1orf167_chr1_11757193_11794585	11793450	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0049 a0049	a0049c0038 a0049c0038	a0049c0038t0001 a0049c0038t0001	a0049c0038t0001g0077 a0049c0038t0001g0077	1	55	0.0182	11	c.40 others(22): Show c.4004_*4005insTTTTTTTTTTT	C1orf167	ENSG00000215910.8	transcript	ENST00000688073.1	protein_coding		3866		chr1	TogoVar
C1orf174_chr1_3884133_3905272	3900328	T T	TCCCCCCC others(4): Show TCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	213	0.0047	11	c.-14 others(20): Show c.-143_-142insGGGGGGGGGGG	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding		57		chr1	TogoVar
C1orf174_chr1_3884133_3905272	3900328	T T	TTCCCCCC others(4): Show TTCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0021 a0001c0001t0009g0021	1	213	0.0047	11	c.-14 others(20): Show c.-143_-142insGGGGGGGGGGA	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding		57		chr1	TogoVar
C1orf174_chr1_3884133_3905272	3901892	C C	CTTTTCTT others(4): Show CTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0019 a0008c0012t0019	a0008c0012t0019g0047 a0008c0012t0019g0047	1	437	0.0023	11	c.-17 others(22): Show c.-1707_-1706insAGAAAAGAAAA	C1orf174	ENSG00000198912.12	transcript	ENST00000361605.4	protein_coding		1621		chr1	TogoVar
C1orf185_chr1_51097228_51153086	51103449	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	246	0.0041	11	c.16+ others(26): Show c.16+1200_16+1201insCACACACACAC	C1orf185	ENSG00000204006.11	transcript	ENST00000371759.7	protein_coding	1/4			chr1	TogoVar
C1orf198_chr1_230832119_230873521	230836212	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	379	0.0026	11	c.36 others(22): Show c.3639_*3640insGTTTTTTTTTT	C1orf198	ENSG00000119280.17	transcript	ENST00000366663.10	protein_coding		906		chr1	TogoVar
C1orf198_chr1_230832119_230873521	230845216	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18949.hp2 NA18960.hp2 others(5): Show HG02132.hp1 NA18949.hp2 NA18960.hp2 NA18978.hp2 NA19064.hp2 NA19074.hp2 NA19081.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0033 a0001c0001t0002g0114 others(2): Show a0001c0001t0002g0019 a0001c0001t0002g0033 a0001c0001t0002g0114 a0001c0001t0002g0118 a0001c0001t0002g0119	8	283	0.0283	11	c.385 others(28): Show c.385-1331_385-1321dupTTTTTTTTTTT	C1orf198	ENSG00000119280.17	transcript	ENST00000366663.10	protein_coding	2/3			chr1	TogoVar
C1orf198_chr1_230832119_230873521	230847102	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp2 HG03041.hp1 HG02451.hp1 HG02615.hp2 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0008 a0002c0004t0008 a0002c0002t0008 a0002c0004t0008	a0002c0002t0008g0036 a0002c0004t0008g0064 a0002c0002t0008g0036 a0002c0004t0008g0064	3	84	0.0357	11	c.385 others(28): Show c.385-3217_385-3207dupTTTTTTTTTTT	C1orf198	ENSG00000119280.17	transcript	ENST00000366663.10	protein_coding	2/3			chr1	TogoVar
C1orf198_chr1_230832119_230873521	230872068	T T	TGTTTTGT others(4): Show TGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02572.hp2 HG02615.hp1 others(7): Show HG02056.hp2 HG02572.hp2 HG02615.hp1 HG02723.hp1 HG02976.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp2 NA18906.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0003c0003t0009	a0001c0001t0001g0102 a0001c0001t0002g0109 a0001c0001t0007g0101 others(6): Show a0001c0001t0001g0102 a0001c0001t0002g0109 a0001c0001t0007g0101 a0001c0001t0011g0103 a0001c0001t0013g0096 a0003c0003t0009g0032 a0003c0003t0009g0104 a0003c0003t0009g0105 a0003c0003t0009g0106	10	397	0.0252	11	c.-35 others(22): Show c.-3557_-3556insCAAAACAAAAC	C1orf198	ENSG00000119280.17	transcript	ENST00000366663.10	protein_coding		3548		chr1	TogoVar
C1orf216_chr1_35708877_35723884	35722911	G G	GAGAGATC others(4): Show GAGAGATCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	373	0.0027	11	c.-42 others(22): Show c.-4211_-4210insGAGAGATCTCT	C1orf216	ENSG00000142686.8	transcript	ENST00000270815.5	protein_coding		4028		chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410663	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0103 a0001c0001t0007g0103	1	151	0.0066	11	c.-12 others(32): Show c.-125+23296_-125+23297insATATATATATT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410663	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0090 a0001c0001t0002g0090	1	151	0.0066	11	c.-12 others(32): Show c.-125+23296_-125+23297insATATATATTTT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf21_chr1_184382029_184634019	184410663	A A	ATATATAT others(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	151	0.0066	11	c.-12 others(32): Show c.-125+23296_-125+23297insATATATTTTTT	C1orf21	ENSG00000116667.15	transcript	ENST00000235307.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
C1orf50_chr1_42762249_42784491	42775762	T T	TATATATA others(4): Show TATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0007 a0001c0001t0046g0007	1	143	0.0070	11	c.36 others(20): Show c.368_*369insATATATATATA	C1orf50	ENSG00000164008.17	transcript	ENST00000372525.7	protein_coding	5/5	369		chr1	TogoVar
C20orf141_chr20_2809987_2820830	2810079	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 NA19240.hp2 NA21309.hp1 HG02572.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0002	3	146	0.0205	11	c.-49 others(22): Show c.-4972_-4971insTTTTTTTTTTT	C20orf141	ENSG00000258713.3	transcript	ENST00000603872.2	protein_coding		4907		chr20	TogoVar
C20orf144_chr20_33657327_33668908	33658625	C C	CCTGGAGA others(4): Show CCTGGAGATGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	384	0.0026	11	c.-37 others(22): Show c.-3721_-3720insCTGGAGATGGT	C20orf144	ENSG00000149609.6	transcript	ENST00000375222.4	protein_coding		3701		chr20	TogoVar
C20orf203_chr20_32626625_32678941	32628630	A A	ACACACAC others(4): Show ACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	259	0.0039	11	c.69 others(22): Show c.6939_*6940insGTGTGTGTGTG	C20orf203	ENSG00000198547.10	transcript	ENST00000608990.6	protein_coding		2994		chr20	TogoVar
C20orf96_chr20_265863_295750	275951	G G	GCAAAAAG others(4): Show GCAAAAAGATCA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0160 a0002c0007t0001g0160	1	408	0.0025	11	c.103 others(25): Show c.1031+6_1031+16dupTGATCTTTTTG	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	10/10			chr20	TogoVar
C20orf96_chr20_265863_295750	287908	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02280.hp1 HG02559.hp2 others(4): Show HG02074.hp2 HG02280.hp1 HG02559.hp2 NA19054.hp1 NA19068.hp2 NA19084.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0015 a0001c0001 a0001c0003 a0001c0015	a0001c0001t0001 a0001c0003t0001 a0001c0015t0001 a0001c0001t0001 a0001c0003t0001 a0001c0015t0001	a0001c0001t0001g0040 a0001c0003t0001g0125 a0001c0003t0001g0303 others(4): Show a0001c0001t0001g0040 a0001c0003t0001g0125 a0001c0003t0001g0303 a0001c0003t0001g0343 a0001c0003t0001g0344 a0001c0003t0001g0345 a0001c0015t0001g0350	7	123	0.0569	11	c.187 others(28): Show c.187+1640_187+1650dupTTTTTTTTTTT	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	3/10			chr20	TogoVar
C20orf96_chr20_265863_295750	288175	T T	TTTTTCTT others(4): Show TTTTTCTTTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp1 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0036 a0001c0001t0007g0038 a0001c0001t0007g0036 a0001c0001t0007g0038	2	394	0.0051	11	c.187 others(28): Show c.187+1383_187+1384insGAAAAAGAAAA	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	3/10			chr20	TogoVar
C21orf58_chr21_46296130_46328870	46298434	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01515.hp1 HG00323.hp2 HG01515.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0290 a0002c0002t0001g0158 a0001c0001t0003g0290 a0002c0002t0001g0158	2	172	0.0116	11	c.35 others(22): Show c.3564_*3565insAAAAAAAAAAA	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding		2695		chr21	TogoVar
C21orf58_chr21_46296130_46328870	46303708	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0290	1	232	0.0043	11	c.722 others(28): Show c.722-1133_722-1132insATATATATATT	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding	6/7			chr21	TogoVar
C21orf58_chr21_46296130_46328870	46303746	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0289 a0001c0001t0003g0289	1	352	0.0028	11	c.722 others(28): Show c.722-1171_722-1170insTATATATATAT	C21orf58	ENSG00000160298.18	transcript	ENST00000291691.12	protein_coding	6/7			chr21	TogoVar
C22orf42_chr22_32144006_32164303	32147782	T T	TCTGTCCC others(4): Show TCTGTCCCTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0073 a0002c0002t0002g0073	1	396	0.0025	11	c.17 others(22): Show c.1757_*1758insTAAAGGGACAG	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1223		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147884	G G	GTATATAT others(4): Show GTATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02572.hp1 HG02717.hp2 others(1): Show HG02486.hp1 HG02572.hp1 HG02717.hp2 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0012 a0003c0003t0002g0033 a0003c0003t0002g0012 a0003c0003t0002g0033	4	350	0.0114	11	c.16 others(22): Show c.1655_*1656insTAATATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1121		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147898	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0051 a0002c0002t0004g0051	1	393	0.0025	11	c.16 others(22): Show c.1641_*1642insAAAAAAAAAAA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1107		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATAT others(4): Show ATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01361.hp2 others(3): Show HG01257.hp1 HG01258.hp1 HG01361.hp2 HG02056.hp1 HG03654.hp1 HG03710.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0014 a0002c0002 a0008c0014	a0002c0002t0001 a0002c0002t0002 a0008c0014t0001 a0002c0002t0001 a0002c0002t0002 a0008c0014t0001	a0002c0002t0001g0002 a0002c0002t0002g0019 a0008c0014t0001g0064 a0002c0002t0001g0002 a0002c0002t0002g0019 a0008c0014t0001g0064	6	119	0.0504	11	c.16 others(22): Show c.1637_*1638insAAAAATATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147902	A A	ATATATTT others(4): Show ATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	114	0.0088	11	c.16 others(22): Show c.1637_*1638insAAAAAAATATA	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1103		chr22	TogoVar
C22orf42_chr22_32144006_32164303	32147903	T T	TATATATA others(4): Show TATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0002 a0009c0017t0002	a0009c0017t0002g0114 a0009c0017t0002g0114	1	376	0.0027	11	c.16 others(22): Show c.1636_*1637insTATATATATAT	C22orf42	ENSG00000205856.4	transcript	ENST00000382097.4	protein_coding		1102		chr22	TogoVar
C2CD2_chr21_41880112_41959018	41948870	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01516.hp2 HG01517.hp2 others(2): Show HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01981.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0039	a0001c0001t0002 a0001c0002t0003 a0001c0004t0005 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0004t0005 a0001c0039t0013	a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0002t0003g0299 others(2): Show a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0002t0003g0299 a0001c0004t0005g0138 a0001c0039t0013g0302	5	138	0.0362	11	c.279 others(28): Show c.279+4489_279+4499dupAAAAAAAAAAA	C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	1/13			chr21	TogoVar
C2CD6_chr2_201482421_201624178	201515201	A A	ATAGTTTT others(4): Show ATAGTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	113	0.0088	11	c.150 others(32): Show c.1507-19233_1507-19232insAAAAAAAACTA	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	13/15			chr2	TogoVar
C2CD6_chr2_201482421_201624178	201575034	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0021 a0021	a0021c0037 a0021c0037	a0021c0037t0001 a0021c0037t0001	a0021c0037t0001g0265 a0021c0037t0001g0265	1	234	0.0043	11	c.684 others(26): Show c.684+237_684+247dupTTTTTTTTTTT	C2CD6	ENSG00000155754.15	transcript	ENST00000439140.6	protein_coding	6/15			chr2	TogoVar
C2_chr6_31922717_31950672	31941814	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02055.hp1 HG02896.hp2 others(8): Show HG01361.hp1 HG02055.hp1 HG02896.hp2 HG02970.hp1 HG03098.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04228.hp2 NA18939.hp2 NA18988.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0009 a0001c0002 a0008c0009	a0001c0002t0001 a0008c0009t0001 a0001c0002t0001 a0008c0009t0001	a0001c0002t0001g0056 a0001c0002t0001g0116 a0001c0002t0001g0186 others(7): Show a0001c0002t0001g0056 a0001c0002t0001g0116 a0001c0002t0001g0186 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0200 a0008c0009t0001g0192	11	195	0.0564	11	c.122 others(30): Show c.1220-1133_1220-1123dupTTTTTTTTTTT	C2	ENSG00000166278.16	transcript	ENST00000299367.10	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
C2orf15_chr2_99136707_99156669	99136798	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	1	274	0.0036	11	c.-54 others(22): Show c.-5425_-5424insAAAAAAAAAAA	C2orf15	ENSG00000273045.7	transcript	ENST00000650052.2	protein_coding		4908		chr2	TogoVar

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