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
CDK12_chr17_39456486_39539544	39481670	CTCTCTCT others(35): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG04204.hp2 NA19067.hp2 HG01361.hp2 HG04204.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0002t0059 a0001c0001t0012 a0001c0002t0059	a0001c0001t0012g0093 a0001c0001t0012g0095 a0001c0002t0059g0012 a0001c0001t0012g0093 a0001c0001t0012g0095 a0001c0002t0059g0012	3	260	0.0115	-42	c.193 others(61): Show c.1932-8881_1932-8840delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTTTCTCT	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDKAL1_chr6_20529457_21237404	20672244	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTTTCTTTTTCTTTCTTTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01358.hp2 HG00323.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0162 a0001c0002t0003g0170 a0001c0001t0003g0162 a0001c0002t0003g0170	2	196	0.0102	-42	c.371 others(61): Show c.371+22871_371+22912delTTCTTTCTTTCTTTCTTTTTCTTTTT CTTTCTTTCTCTCTCT	CDKAL1	ENSG00000145996.11	transcript	ENST00000274695.8	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEACAM16_chr19_44694151_44715718	44709410	CGGGAGCT others(35): Show CGGGAGCTCCCAGAGTCAGGGACCATGTCTCCTTCATCAGACT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02257.hp2 HG02886.hp1 others(2): Show HG00558.hp2 HG02257.hp2 HG02886.hp1 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0020 a0001c0003t0001g0092 a0001c0001t0002g0020 a0001c0003t0001g0092	5	450	0.0111	-42	c.126 others(60): Show c.1268-1011_1268-970delTCATCAGACTGGGAGCTCCCAGAGTCA GGGACCATGTCTCCT	CEACAM16	ENSG00000213892.12	transcript	ENST00000587331.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM16_chr19_44694151_44715718	44709517	CATGTCTC others(35): Show CATGTCTCCTCCATCAGACCGGGAGCTCCCAGAGTCAGGGTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00639.hp1 others(74): Show HG00140.hp2 HG00280.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04228.hp2 NA18906.hp2 NA18941.hp2 NA18947.hp1 NA18975.hp2 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA19005.hp2 NA19043.hp1 NA19074.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0019 a0002c0004 a0003c0011 a0007c0012	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0019t0001 a0002c0004t0001 a0003c0011t0001 a0007c0012t0001	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0037 others(39): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0002t0001g0009 a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0042 a0001c0002t0001g0055 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0077 a0001c0002t0001g0081 a0001c0002t0001g0131 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0147 a0001c0002t0001g0158 a0001c0006t0001g0053 a0001c0019t0001g0058 a0002c0004t0001g0051 a0002c0004t0001g0080 a0002c0004t0001g0152 a0003c0011t0001g0009 a0007c0012t0001g0162	77	450	0.1711	-42	c.126 others(59): Show c.1268-945_1268-904delTCAGGGTCTATGTCTCCTCCATCAGACC GGGAGCTCCCAGAG	CEACAM16	ENSG00000213892.12	transcript	ENST00000587331.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CEACAM16_chr19_44694151_44715718	44709643	TATGTCTC others(35): Show TATGTCTCCTCCATCAGACTGGGAGCTCCCAGAGTCAGGGACC	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	450	0.0022	-42	c.126 others(59): Show c.1268-728_1268-687delCCATGTCTCCTCCATCAGACTGGGAGCT CCCAGAGTCAGGGA	CEACAM16	ENSG00000213892.12	transcript	ENST00000587331.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CELSR1_chr22_46356174_46542620	46498236	TGAAACTC others(35): Show TGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02055.hp2 others(2): Show HG01109.hp1 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG06807.hp1	a0001 a0005 a0011 others(2): Show a0001 a0005 a0011 a0015 a0023	a0001c0029 a0005c0019 a0011c0011 others(2): Show a0001c0029 a0005c0019 a0011c0011 a0015c0045 a0023c0042	a0001c0029t0001 a0005c0019t0001 a0011c0011t0002 others(2): Show a0001c0029t0001 a0005c0019t0001 a0011c0011t0002 a0015c0045t0001 a0023c0042t0002	a0001c0029t0001g0038 a0005c0019t0001g0024 a0011c0011t0002g0011 others(2): Show a0001c0029t0001g0038 a0005c0019t0001g0024 a0011c0011t0002g0011 a0015c0045t0001g0062 a0023c0042t0002g0054	5	104	0.0481	-42	c.354 others(63): Show c.3545-33933_3545-33892delGCTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACAGAGTTTC	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34			chr22	TogoVar
CENPH_chr5_69184583_69215357	69204009	ATATATAT others(35): Show ATATATATATAAATTATATATATAATTATATATATTTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00597.hp2 others(36): Show HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG01433.hp1 HG01496.hp2 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02258.hp1 HG02300.hp2 HG02523.hp2 HG03225.hp2 HG03669.hp1 HG03704.hp2 HG04204.hp2 NA18943.hp2 NA18949.hp2 NA18954.hp2 NA18964.hp2 NA18970.hp2 NA18978.hp1 NA18981.hp2 NA18984.hp1 NA18993.hp1 NA18995.hp2 NA19002.hp2 NA19059.hp1 NA19064.hp1 NA19076.hp2 NA19078.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0024 others(29): Show a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0256 a0001c0001t0004g0201 a0001c0001t0004g0205 a0001c0001t0004g0209	39	388	0.1005	-42	c.487 others(59): Show c.487+1053_487+1094delTATATATATAATTATATATATTTATATA TTATATATATAAAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
CENPK_chr5_65512766_65568168	65527498	CATATATA others(35): Show CATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	374	0.0027	-42	c.597 others(57): Show c.597+912_597+953delATATATATATATATATATATATATATATAT ATATATATATAT	CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	9/10			chr5	TogoVar
CEP112_chr17_65630537_66197133	65821484	TTATATAT others(35): Show TTATATATATAATTATATATATATATATAATTATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0074 a0001c0003t0001g0074	1	112	0.0089	-42	c.239 others(63): Show c.2394+30278_2394+30319delTATATATATATAATTATATATATA TATATAATTATATATATA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	21/26			chr17	TogoVar
CEP128_chr14_80491479_80946738	80656273	TTTTATTT others(35): Show TTTTATTTATATATATATTTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0063 a0004c0004t0003g0063	1	164	0.0061	-42	c.280 others(63): Show c.2807-75892_2807-75851delTATATATATATATATATATATATA AATATATATATAAATAAA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80656275	TTATTTAT others(35): Show TTATTTATATATATATTTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0144 a0002c0006t0003g0144	1	164	0.0061	-42	c.280 others(63): Show c.2807-75894_2807-75853delTATATATATATATATATATATATA TAAATATATATATAAATA	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP128_chr14_80491479_80946738	80729056	GGGGTGTG others(35): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0005 a0007c0010t0005	a0007c0010t0005g0056 a0007c0010t0005g0056	1	164	0.0061	-42	c.280 others(63): Show c.2806+13977_2806+14018delACACACACACACACACACACACAC ACACACACACACACACCC	CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24			chr14	TogoVar
CEP20_chr16_15860719_15893603	15891784	TCTTTCTT others(35): Show TCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTCTCTCTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0009 a0002c0002t0004g0009	1	433	0.0023	-42	c.-32 others(53): Show c.-3241_-3200delGAAAGAGAGAGAGAAAGAAAGAAAGAAAAGAAAG AAAGAAAG	CEP20	ENSG00000133393.13	transcript	ENST00000255759.11	protein_coding		3182		chr16	TogoVar
CEP72_chr5_607340_658553	649703	TGGACTGT others(35): Show TGGACTGTGAGGGGTGACCGTGAGGCGTGGACTGTGAGGCGTG	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0022 a0003c0003t0002g0022	1	91	0.0110	-42	c.177 others(61): Show c.1778+1789_1778+1830delGACTGTGAGGGGTGACCGTGAGGCGT GGACTGTGAGGCGTGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CERS4_chr19_8204370_8267421	8214961	GGGAGGAG others(35): Show GGGAGGAGGAGAAAAAGGAAGAGGAGGGGGAGGAGAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(82): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01175.hp2 HG01255.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02040.hp1 HG02080.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18945.hp1 NA18946.hp1 NA18954.hp1 NA18969.hp2 NA18970.hp1 NA18975.hp1 NA18984.hp1 NA19010.hp2 NA19030.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0010	a0001c0001 a0001c0002 a0001c0006 others(10): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0025 a0002c0003 a0003c0004 a0003c0007 a0003c0020 a0004c0005 a0006c0010 a0008c0024 a0010c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(20): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0014 a0001c0006t0005 a0001c0008t0001 a0001c0008t0005 a0001c0025t0001 a0002c0003t0001 a0003c0004t0001 a0003c0004t0004 a0003c0007t0001 a0003c0007t0010 a0003c0020t0001 a0004c0005t0008 a0006c0010t0001 a0006c0010t0015 a0008c0024t0008 a0010c0016t0006	a0001c0001t0001g0117 a0001c0001t0003g0035 a0001c0001t0003g0036 others(82): Show a0001c0001t0001g0117 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0083 a0001c0001t0003g0089 a0001c0001t0003g0105 a0001c0001t0003g0110 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0005g0096 a0001c0001t0016g0094 a0001c0002t0001g0075 a0001c0002t0001g0412 a0001c0002t0005g0038 a0001c0002t0005g0039 a0001c0002t0005g0045 a0001c0002t0005g0055 a0001c0002t0005g0058 a0001c0002t0005g0059 a0001c0002t0005g0063 a0001c0002t0005g0072 a0001c0002t0005g0073 a0001c0002t0005g0074 a0001c0002t0005g0079 a0001c0002t0005g0081 a0001c0002t0005g0082 a0001c0002t0005g0084 a0001c0002t0005g0086 a0001c0002t0005g0090 a0001c0002t0005g0102 a0001c0002t0005g0119 a0001c0002t0005g0393 a0001c0002t0005g0413 a0001c0002t0005g0414 a0001c0002t0006g0214 a0001c0002t0006g0215 a0001c0002t0014g0056 a0001c0006t0005g0087 a0001c0008t0001g0051 a0001c0008t0001g0085 a0001c0008t0005g0076 a0001c0025t0001g0116 a0002c0003t0001g0040 a0002c0003t0001g0043 a0002c0003t0001g0052 a0002c0003t0001g0061 a0002c0003t0001g0062 a0002c0003t0001g0103 a0002c0003t0001g0109 a0002c0003t0001g0114 a0002c0003t0001g0118 a0003c0004t0001g0041 a0003c0004t0001g0057 a0003c0004t0001g0060 a0003c0004t0001g0069 a0003c0004t0001g0077 a0003c0004t0001g0078 a0003c0004t0001g0088 a0003c0004t0001g0091 a0003c0004t0001g0206 a0003c0004t0004g0252 a0003c0007t0001g0037 a0003c0007t0010g0032 a0003c0020t0001g0080 a0004c0005t0008g0053 a0004c0005t0008g0054 a0004c0005t0008g0095 a0006c0010t0001g0092 a0006c0010t0015g0093 a0008c0024t0008g0108 a0010c0016t0006g0212	85	418	0.2034	-42	c.-2+ others(57): Show c.-2+4133_-2+4174delGAGGGAGGAGGAGGAGGAGAAAAAGGAAGA GGAGGGGGAGGA	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
CERS6_chr2_168451272_168780134	168512662	TTCTTTTC others(35): Show TTCTTTTCTTTTTTTTTTTTTTTAAAGACAGAGTCTCGCTCTG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp1 HG00738.hp1 HG01256.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0005 a0001c0001t0001 a0003c0007t0005	a0001c0001t0001g0019 a0003c0007t0005g0018 a0001c0001t0001g0019 a0003c0007t0005g0018	2	176	0.0114	-42	c.171 others(61): Show c.171-34931_171-34890delTTTTCTTTTTTTTTTTTTTTAAAGAC AGAGTCTCGCTCTGTC	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CES5A_chr16_55841154_55880373	55876568	CTAAAGGG others(35): Show CTAAAGGGATACAGCGATGAGGTAAAGTGATGGGGTGCAGTGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0169 a0001c0002t0005g0169	1	449	0.0022	-42	c.-13 others(53): Show c.-1389_-1348delTCACTGCACCCCATCACTTTACCTCATCGCTGTA TCCCTTTA	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding		1196		chr16	TogoVar
CFAP141_chr1_154194085_154211333	154203172	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02273.hp2 NA18952.hp1 HG01256.hp2 HG02273.hp2 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0067 a0001c0001t0001g0046 a0001c0001t0001g0067	3	372	0.0081	-42	c.74+ others(57): Show c.74+2384_74+2425delATATATATATATATATATATATATATATAT ATATATATATAT	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP300_chr11_102042437_102089554	102075166	TATCTTAC others(35): Show TATCTTACATTGGTCACCTTTTTATACCCACTACAATCGATAA	T T	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	346	0.0029	-42	c.436 others(57): Show c.436-704_436-663delCTTACATTGGTCACCTTTTTATACCCACTA CAATCGATAAAT	CFAP300	ENSG00000137691.13	transcript	ENST00000434758.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP46_chr10_132803392_132947570	132804115	CGTCCCCT others(35): Show CGTCCCCTCGGCCCCATCCCCTCGGCCCTGTCCCCACGTCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01257.hp2 NA20129.hp2 HG01069.hp2 HG01257.hp2 NA20129.hp2	a0005 a0012 a0070 a0005 a0012 a0070	a0005c0047 a0012c0025 a0070c0074 a0005c0047 a0012c0025 a0070c0074	a0005c0047t0001 a0012c0025t0002 a0070c0074t0002 a0005c0047t0001 a0012c0025t0002 a0070c0074t0002	a0005c0047t0001g0216 a0012c0025t0002g0014 a0070c0074t0002g0006 a0005c0047t0001g0216 a0012c0025t0002g0014 a0070c0074t0002g0006	3	246	0.0122	-42	c.42 others(53): Show c.4264_*4305delAGGGACGTGGGGACAGGGCCGAGGGGATGGGGCC GAGGGGAC	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding		4276		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132804209	TCCCTGTC others(35): Show TCCCTGTCCCCACGTCCCTGTCCCCTCGGCCCTGTCCCCACGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0068 a0068	a0068c0071 a0068c0071	a0068c0071t0002 a0068c0071t0002	a0068c0071t0002g0003 a0068c0071t0002g0003	1	246	0.0041	-42	c.41 others(53): Show c.4170_*4211delCCGTGGGGACAGGGCCGAGGGGACAGGGACGTGG GGACAGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding		4182		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132804223	TCCCTGTC others(35): Show TCCCTGTCCCCTCGGCCCTGTCCCCACGGCCCTGTCCCCTCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02886.hp1 HG03486.hp2 HG02109.hp2 HG02886.hp1 HG03486.hp2	a0010 a0038 a0065 a0010 a0038 a0065	a0010c0072 a0038c0037 a0065c0102 a0010c0072 a0038c0037 a0065c0102	a0010c0072t0002 a0038c0037t0001 a0065c0102t0002 a0010c0072t0002 a0038c0037t0001 a0065c0102t0002	a0010c0072t0002g0004 a0038c0037t0001g0230 a0065c0102t0002g0018 a0010c0072t0002g0004 a0038c0037t0001g0230 a0065c0102t0002g0018	3	246	0.0122	-42	c.41 others(53): Show c.4156_*4197delCCGAGGGGACAGGGCCGTGGGGACAGGGCCGAGG GGACAGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding		4168		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888468	CCTGCCAC others(35): Show CCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCGCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0065 a0065	a0065c0102 a0065c0102	a0065c0102t0002 a0065c0102t0002	a0065c0102t0002g0018 a0065c0102t0002g0018	1	246	0.0041	-42	c.330 others(61): Show c.3305-2551_3305-2510delTGCAGGCGGCAGGGGTACAGGCGGCA GGGGTGAAGGTGGCAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132888685	CCTGCCAC others(35): Show CCTGCCACCTTCACCCCTGCCGCCTGCACCCCTGCCGCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0065 a0065	a0065c0102 a0065c0102	a0065c0102t0002 a0065c0102t0002	a0065c0102t0002g0018 a0065c0102t0002g0018	1	246	0.0041	-42	c.330 others(61): Show c.3305-2768_3305-2727delTGCAGGCGGCAGGGGTGCAGGCGGCA GGGGTGAAGGTGGCAG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CFAP54_chr12_96484577_96880555	96553475	TATATATA others(35): Show TATATATATAGTTATATATATATATAGTAATATATGTATAGTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(136): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01243.hp2 HG01358.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03942.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0014 a0019 a0020 a0022 a0024 a0025 a0027 a0029 a0035 a0036 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0051 a0053 a0054 a0055 a0057 a0058 a0059 a0060	a0001c0001 a0001c0012 a0001c0047 others(49): Show a0001c0001 a0001c0012 a0001c0047 a0001c0078 a0001c0086 a0002c0003 a0002c0007 a0002c0058 a0002c0091 a0003c0072 a0004c0005 a0004c0011 a0004c0081 a0004c0082 a0004c0085 a0004c0088 a0005c0004 a0005c0015 a0005c0020 a0005c0041 a0006c0006 a0006c0010 a0006c0049 a0008c0009 a0008c0055 a0008c0087 a0014c0014 a0019c0023 a0020c0024 a0022c0045 a0022c0059 a0024c0046 a0025c0029 a0027c0095 a0029c0035 a0035c0063 a0036c0036 a0038c0093 a0039c0039 a0040c0037 a0041c0038 a0042c0092 a0043c0080 a0044c0040 a0051c0083 a0053c0050 a0054c0034 a0055c0089 a0057c0090 a0058c0084 a0059c0060 a0060c0094	a0001c0001t0001 a0001c0012t0001 a0001c0047t0001 others(50): Show a0001c0001t0001 a0001c0012t0001 a0001c0047t0001 a0001c0078t0001 a0001c0086t0001 a0002c0003t0001 a0002c0003t0002 a0002c0007t0001 a0002c0058t0001 a0002c0091t0001 a0003c0072t0001 a0004c0005t0001 a0004c0011t0001 a0004c0081t0001 a0004c0082t0001 a0004c0085t0001 a0004c0088t0001 a0005c0004t0001 a0005c0015t0001 a0005c0020t0001 a0005c0041t0001 a0006c0006t0001 a0006c0010t0001 a0006c0049t0001 a0008c0009t0001 a0008c0055t0001 a0008c0087t0001 a0014c0014t0001 a0019c0023t0001 a0020c0024t0001 a0022c0045t0001 a0022c0059t0001 a0024c0046t0001 a0025c0029t0001 a0027c0095t0001 a0029c0035t0001 a0035c0063t0001 a0036c0036t0001 a0038c0093t0001 a0039c0039t0001 a0040c0037t0001 a0041c0038t0001 a0042c0092t0001 a0043c0080t0001 a0044c0040t0001 a0051c0083t0001 a0053c0050t0001 a0054c0034t0001 a0055c0089t0001 a0057c0090t0001 a0058c0084t0001 a0059c0060t0001 a0060c0094t0001	a0001c0001t0001g0021 a0001c0001t0001g0048 a0001c0001t0001g0050 others(136): Show a0001c0001t0001g0021 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0258 a0001c0012t0001g0014 a0001c0012t0001g0072 a0001c0012t0001g0089 a0001c0047t0001g0045 a0001c0078t0001g0075 a0001c0086t0001g0148 a0002c0003t0001g0121 a0002c0003t0001g0122 a0002c0003t0001g0127 a0002c0003t0001g0131 a0002c0003t0001g0133 a0002c0003t0001g0139 a0002c0003t0001g0143 a0002c0003t0001g0151 a0002c0003t0001g0155 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0159 a0002c0003t0001g0169 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0177 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0007t0001g0124 a0002c0007t0001g0125 a0002c0007t0001g0134 a0002c0007t0001g0135 a0002c0007t0001g0136 a0002c0007t0001g0137 a0002c0007t0001g0149 a0002c0007t0001g0152 a0002c0058t0001g0077 a0002c0091t0001g0138 a0003c0072t0001g0245 a0004c0005t0001g0007 a0004c0005t0001g0052 a0004c0005t0001g0103 a0004c0005t0001g0231 a0004c0011t0001g0117 a0004c0011t0001g0118 a0004c0011t0001g0119 a0004c0011t0001g0120 a0004c0081t0001g0128 a0004c0082t0001g0167 a0004c0085t0001g0145 a0004c0088t0001g0140 a0005c0004t0001g0010 a0005c0004t0001g0011 a0005c0004t0001g0012 a0005c0004t0001g0013 a0005c0004t0001g0108 a0005c0004t0001g0110 a0005c0004t0001g0111 a0005c0004t0001g0112 a0005c0004t0001g0114 a0005c0004t0001g0115 a0005c0004t0001g0116 a0005c0015t0001g0016 a0005c0015t0001g0062 a0005c0020t0001g0142 a0005c0020t0001g0213 a0005c0020t0001g0250 a0005c0041t0001g0057 a0006c0006t0001g0044 a0006c0006t0001g0051 a0006c0006t0001g0053 a0006c0006t0001g0059 a0006c0006t0001g0060 a0006c0006t0001g0061 a0006c0006t0001g0065 a0006c0006t0001g0066 a0006c0010t0001g0132 a0006c0010t0001g0141 a0006c0010t0001g0144 a0006c0010t0001g0146 a0006c0010t0001g0153 a0006c0049t0001g0043 a0008c0009t0001g0063 a0008c0009t0001g0104 a0008c0055t0001g0042 a0008c0087t0001g0178 a0014c0014t0001g0161 a0014c0014t0001g0162 a0014c0014t0001g0164 a0019c0023t0001g0038 a0019c0023t0001g0039 a0020c0024t0001g0009 a0020c0024t0001g0109 a0022c0045t0001g0081 a0022c0059t0001g0092 a0024c0046t0001g0046 a0025c0029t0001g0001 a0025c0029t0001g0176 a0027c0095t0001g0126 a0029c0035t0001g0076 a0035c0063t0001g0113 a0036c0036t0001g0041 a0038c0093t0001g0158 a0039c0039t0001g0040 a0040c0037t0001g0163 a0041c0038t0001g0191 a0042c0092t0001g0160 a0043c0080t0001g0251 a0044c0040t0001g0107 a0051c0083t0001g0130 a0053c0050t0001g0079 a0054c0034t0001g0006 a0055c0089t0001g0150 a0057c0090t0001g0123 a0058c0084t0001g0129 a0059c0060t0001g0005 a0060c0094t0001g0147	139	268	0.5187	-42	c.215 others(59): Show c.2155-641_2155-600delTAGTAATATATGTATAGTAATATATATA GTTATATATATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	15/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104357928	TATACACA others(35): Show TATACACACATATATGTACACATATATACACATATATGTACAC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG02486.hp2 others(4): Show HG01109.hp2 HG01255.hp2 HG02486.hp2 HG02809.hp1 HG03195.hp2 HG03471.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0093 a0001c0001t0001g0094 a0002c0002t0002g0298	7	308	0.0227	-42	c.10- others(55): Show c.10-409_10-368delCACACATATATGTACACATATATACACATATA TGTACACATA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP95_chr9_69815817_69911227	69843530	CCTCCTCC others(35): Show CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0092 a0003c0004t0001g0092	1	380	0.0026	-42	c.153 others(57): Show c.153-984_153-943delCCTCCTCCTCCTCCTCCTCCTCCTCCTTCT TCTTCTTCTTCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843557	CCTTCTTC others(35): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0374 a0001c0001t0001g0374	1	380	0.0026	-42	c.153 others(57): Show c.153-928_153-887delTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CHCHD6_chr3_126699240_126965420	126863431	TCCACCAT others(35): Show TCCACCATCACCTCCTCCTCCCCCACTGTCACCACCTCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	216	0.0046	-42	c.495 others(61): Show c.495+10713_495+10754delTCCTCCTCCCCCACTGTCACCACCTC CTCCACCACCATCACC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD9NB_chr16_53036484_53057897	53053117	GCTTCTCC others(35): Show GCTTCTCCTCCTCCTGCTCCTCCTCCTCCACCTGCTCCTCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0051 a0002c0002t0051	a0002c0002t0051g0123 a0002c0002t0051g0123	1	406	0.0025	-42	c.-58 others(51): Show c.-583_-542delGAGGAGGAGCAGGTGGAGGAGGAGGAGCAGGAGGAG GAGAAG	CHD9NB	ENSG00000277639.3	transcript	ENST00000619363.3	protein_coding		221		chr16	TogoVar
CHD9_chr16_53049991_53332497	53053117	GCTTCTCC others(35): Show GCTTCTCCTCCTCCTGCTCCTCCTCCTCCACCTGCTCCTCCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	238	0.0042	-42	c.-21 others(53): Show c.-2124_-2083delCTTCTCCTCCTCCTGCTCCTCCTCCTCCACCTGC TCCTCCTC	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding		1873		chr16	TogoVar
CHL1_chr3_191763_414417	377493	ATATCTTG others(35): Show ATATCTTGGCCATTGTGAGGTATGATGCACTCTTTAAACATGC	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0275 a0002c0002t0001g0275	1	290	0.0035	-42	c.175 others(59): Show c.1752-324_1752-283delTATCTTGGCCATTGTGAGGTATGATGCA CTCTTTAAACATGC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	15/27			chr3	TogoVar
CHMP1A_chr16_89639435_89662708	89647518	ATGGAGAC others(35): Show ATGGAGACCCAGTGCGGGGTCAGTGGAGAAAAGGCCGCCGACG	A A	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00733.hp1 HG01358.hp1 others(7): Show HG00673.hp1 HG00733.hp1 HG01358.hp1 NA18941.hp1 NA18977.hp1 NA18980.hp1 NA18988.hp2 NA19054.hp1 NA19067.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0187 a0001c0001t0001g0188 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0232 a0001c0001t0001g0233	10	392	0.0255	-42	c.253 others(57): Show c.253-229_253-188delCGTCGGCGGCCTTTTCTCCACTGACCCCGC ACTGGGTCTCCA	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647606	AGACCCAG others(35): Show AGACCCAGTGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00597.hp1 others(3): Show HG00408.hp1 HG00423.hp2 HG00597.hp1 NA18971.hp2 NA19010.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0311 a0001c0001t0003g0013 a0001c0001t0003g0126 others(2): Show a0001c0001t0001g0311 a0001c0001t0003g0013 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128	6	392	0.0153	-42	c.253 others(57): Show c.253-317_253-276delCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCACTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89647732	GGACCCAG others(35): Show GGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	392	0.0026	-42	c.253 others(57): Show c.253-443_253-402delTCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP1A_chr16_89639435_89662708	89648362	AGACCCAG others(35): Show AGACCCAGCGCGGGGTCGGTGGAGAAAAGGCCGCCGACGTGGG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18522.hp1 NA19030.hp1 others(1): Show HG01261.hp2 NA18522.hp1 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0139 a0001c0001t0001g0200 a0001c0001t0001g0217 others(1): Show a0001c0001t0001g0139 a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0006g0135	4	392	0.0102	-42	c.252 others(57): Show c.252+947_252+988delCCCACGTCGGCGGCCTTTTCTCCACCGACC CCGCGCTGGGTC	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHM_chrX_85856180_86052558	86021095	CATATATA others(35): Show CATATATATACGTATATATATGTGTATATACGTATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0100	1	245	0.0041	-42	c.116 others(59): Show c.116+6354_116+6395delATATATATATACGTATATACACATATAT ATACGTATATATAT	CHM	ENSG00000188419.14	transcript	ENST00000357749.7	protein_coding	2/14			chrX	TogoVar
CHN2_chr7_29189775_29519328	29273326	CATATATA others(35): Show CATATATATATATATGTGTATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	232	0.0043	-42	c.49+ others(59): Show c.49+78351_49+78392delGTGTATATATATATATATATATATATAT ATATATATATATAT	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRNB4_chr15_78619111_78646210	78632211	TTCTCTTT others(35): Show TTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02027.hp1 NA18906.hp1 others(5): Show HG00423.hp2 HG02027.hp1 NA18906.hp1 NA18957.hp2 NA18960.hp2 NA18969.hp2 NA18973.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 others(1): Show a0001c0001t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0018	a0001c0001t0003g0110 a0002c0002t0002g0079 a0002c0002t0002g0084 others(5): Show a0001c0001t0003g0110 a0002c0002t0002g0079 a0002c0002t0002g0084 a0002c0002t0002g0131 a0002c0002t0002g0154 a0002c0002t0002g0175 a0002c0002t0003g0085 a0002c0002t0018g0174	8	416	0.0192	-42	c.205 others(57): Show c.205-921_205-880delGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAGA	CHRNB4	ENSG00000117971.12	transcript	ENST00000261751.8	protein_coding	2/5			chr15	TogoVar
CHRNG_chr2_232534692_232553115	232536098	TCTAGCAA others(35): Show TCTAGCAACCCTATCCCAAAGGCAGCCTCCACTCAATCTTATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	434	0.0023	-42	c.-36 others(53): Show c.-3649_-3608delCTAGCAACCCTATCCCAAAGGCAGCCTCCACTCA ATCTTATC	CHRNG	ENSG00000196811.13	transcript	ENST00000651502.1	protein_coding		3593		chr2	TogoVar
CHST8_chr19_33616953_33778506	33618397	GTCTTCTT others(35): Show GTCTTCTTCTTCTTCTTCTTCTTCCTCGTCTTCTTCTTCTTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02135.hp2 HG03041.hp1 others(2): Show HG00609.hp2 HG02135.hp2 HG03041.hp1 NA18944.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0164 a0001c0001t0002g0049 others(2): Show a0001c0001t0001g0012 a0001c0001t0001g0164 a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0002g0064	5	254	0.0197	-42	c.-40 others(53): Show c.-4062_-4021delTCTTCTTCTTCTTCTTCTTCTTCCTCGTCTTCTT CTTCTTCT	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding		3555		chr19	TogoVar
CHST8_chr19_33616953_33778506	33757384	AAAGAAGA others(35): Show AAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	254	0.0039	-42	c.131 others(61): Show c.131-14026_131-13985delGAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHSY3_chr5_129899465_130191634	130143720	ATGTGTGT others(35): Show ATGTGTGTGTGTGTGTATATATATATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp2 HG02129.hp1 others(3): Show HG00621.hp1 HG00735.hp2 HG02129.hp1 NA18979.hp2 NA18980.hp2 NA19062.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0005 a0003c0006 a0001c0002 a0002c0005 a0003c0006	a0001c0002t0001 a0002c0005t0001 a0003c0006t0003 a0001c0002t0001 a0002c0005t0001 a0003c0006t0003	a0001c0002t0001g0032 a0002c0005t0001g0029 a0003c0006t0003g0025 others(3): Show a0001c0002t0001g0032 a0002c0005t0001g0029 a0003c0006t0003g0025 a0003c0006t0003g0040 a0003c0006t0003g0041 a0003c0006t0003g0072	6	276	0.0217	-42	c.108 others(63): Show c.1087-40501_1087-40460delGTGTGTGTATATATATATATATAT ATATATGTGTGTGTGTGT	CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
CIAPIN1_chr16_57423187_57452385	57448384	CTCCCAAG others(35): Show CTCCCAAGGAGCTGGGACTACAAGTGCGTGCCACCCTACTTGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	-42	c.-11 others(53): Show c.-1140_-1099delCCAAGTAGGGTGGCACGCACTTGTAGTCCCAGCT CCTTGGGA	CIAPIN1	ENSG00000005194.15	transcript	ENST00000394391.9	protein_coding		1000		chr16	TogoVar
CIB4_chr2_26576205_26646366	26589030	TTCTTCTT others(35): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCCTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18984.hp1 HG02630.hp1 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0240 a0002c0002t0003g0334 a0001c0001t0001g0240 a0002c0002t0003g0334	2	344	0.0058	-42	c.329 others(59): Show c.329-5174_329-5133delGGAAGAGGAAGAGGAAGAAGAAGAAGAA GAAGAAGAAGAAGA	CIB4	ENSG00000157884.11	transcript	ENST00000288861.5	protein_coding	4/6			chr2	TogoVar
CLCNKA_chr1_16017036_16039050	16034203	AGATGATA others(35): Show AGATGATAGGGAGAGAGGTTCTCCCACCAGGTCTATGATGCTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0077 a0002c0002t0002g0077	1	392	0.0026	-42	c.54 others(51): Show c.546_*587delGATGATAGGGAGAGAGGTTCTCCCACCAGGTCTATG ATGCTT	CLCNKA	ENSG00000186510.12	transcript	ENST00000331433.5	protein_coding		154		chr1	TogoVar
CLDN10_chr13_95547720_95584759	95565475	CCTCTAGG others(35): Show CCTCTAGGCTTATTTCCAGACTTTTCAAAATCATGTCGCACTT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	400	0.0025	-42	c.464 others(59): Show c.464+5016_464+5057delTAGGCTTATTTCCAGACTTTTCAAAATC ATGTCGCACTTCTC	CLDN10	ENSG00000134873.10	transcript	ENST00000299339.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLDN10_chr13_95547720_95584759	95570818	GTATATAT others(35): Show GTATATATATATACACACACACACACACACATATACGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02896.hp1 HG02897.hp1 others(1): Show HG02572.hp2 HG02896.hp1 HG02897.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0023 a0001c0002t0007g0152 a0001c0002t0007g0023 a0001c0002t0007g0152	4	400	0.0100	-42	c.465 others(59): Show c.465-6400_465-6359delCACACACACACACACACATATACGTGTG TATATATATATATA	CLDN10	ENSG00000134873.10	transcript	ENST00000299339.3	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr13	TogoVar
CLIC5_chr6_45893456_46020860	46006093	CATATATA others(35): Show CATATATATATATATATATACACATGTATAAATACATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18995.hp2 NA18951.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0069 a0001c0001t0003g0070	2	340	0.0059	-42	c.63+ others(57): Show c.63+9345_63+9386delATATATATGTATTTATACATGTGTATATAT ATATATATATAT	CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5			chr6	TogoVar
CLMP_chr11_123064872_123200248	123118959	TTCTTTCT others(35): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	254	0.0039	-42	c.29- others(59): Show c.29-21049_29-21008delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGA	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar

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