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
CELA2A_chr1_15451732_15477091	15458908	TAAAAAAA others(24): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0228 a0001c0002t0001g0228	1	4	0.2500	-31	c.129 others(48): Show c.129+1753_129+1783delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CELA2A	ENSG00000142615.8	transcript	ENST00000359621.5	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
CELSR1_chr22_46356174_46542620	46365925	GAAGGTGG others(24): Show GAAGGTGGTGGGGGGAAAGGCTGGGTGGGGGA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0034 a0034	a0034c0066 a0034c0066	a0034c0066t0009 a0034c0066t0009	a0034c0066t0009g0104 a0034c0066t0009g0104	1	83	0.0120	-31	c.830 others(48): Show c.8301-267_8301-237delTCCCCCACCCAGCCTTTCCCCCCACCAC CTT	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	30/34			chr22	TogoVar
CELSR1_chr22_46356174_46542620	46442449	GCAGGGCA others(24): Show GCAGGGCAGTCCGACCTCCCCTCTGCCCAGGC	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0033 a0033	a0033c0065 a0033c0065	a0033c0065t0002 a0033c0065t0002	a0033c0065t0002g0103 a0033c0065t0002g0103	1	102	0.0098	-31	c.418 others(50): Show c.4184-3069_4184-3039delGCCTGGGCAGAGGGGAGGTCGGACTG CCCTG	CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	2/34			chr22	TogoVar
CEMIP_chr15_80774370_80956771	80848953	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18747.hp1 NA19011.hp1 HG01934.hp2 NA18747.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0001g0197 a0001c0001t0002g0218 a0001c0001t0001g0058 a0001c0001t0001g0197 a0001c0001t0002g0218	3	4	0.7500	-31	c.-17 others(52): Show c.-175-24563_-175-24533delTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	CEMIP	ENSG00000103888.17	transcript	ENST00000394685.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
CENPK_chr5_65512766_65568168	65514232	TTTTTTTT others(24): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	372	0.0027	-31	c.42 others(42): Show c.4212_*4242delCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding		3533		chr5	TogoVar
CENPP_chr9_92320953_92625529	92624716	GACCTGCT others(24): Show GACCTGCTGTATAGGTCACTTCACTTAAAGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG01168.hp1 HG01169.hp2 others(19): Show HG00280.hp1 HG01168.hp1 HG01169.hp2 HG01346.hp2 HG02015.hp2 HG02083.hp1 HG02165.hp1 HG02486.hp1 HG02698.hp2 HG03710.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 NA18951.hp2 NA18963.hp2 NA18973.hp1 NA18980.hp2 NA18984.hp1 NA18993.hp2 NA18995.hp1 NA19001.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0016 a0001c0001t0046 others(1): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0046 a0001c0001t0047	a0001c0001t0005g0008 a0001c0001t0005g0016 a0001c0001t0005g0017 others(19): Show a0001c0001t0005g0008 a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0016g0083 a0001c0001t0016g0244 a0001c0001t0046g0259 a0001c0001t0047g0030	22	260	0.0846	-31	c.11 others(44): Show c.11568_*11598delACCTGCTGTATAGGTCACTTCACTTAAAGTC	CENPP	ENSG00000188312.15	transcript	ENST00000375587.8	protein_coding		4188		chr9	TogoVar
CEP112_chr17_65630537_66197133	65852172	TTTCCTTC others(24): Show TTTCCTTCCTTCCCTCCCTCTTTCCCTCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp1 HG00642.hp1 others(66): Show HG00280.hp2 HG00438.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01243.hp2 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03492.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA19002.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0002 a0001c0003 a0002c0001 others(5): Show a0001c0002 a0001c0003 a0002c0001 a0002c0004 a0002c0008 a0003c0006 a0004c0005 a0006c0009	a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 others(11): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0008 a0002c0004t0001 a0002c0008t0001 a0003c0006t0001 a0004c0005t0001 a0006c0009t0005	a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 others(66): Show a0001c0002t0001g0011 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0060 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0078 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0003t0001g0006 a0001c0003t0001g0065 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0002g0112 a0001c0003t0007g0004 a0002c0001t0001g0012 a0002c0001t0001g0013 a0002c0001t0001g0016 a0002c0001t0001g0018 a0002c0001t0001g0024 a0002c0001t0001g0025 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0031 a0002c0001t0001g0036 a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0039 a0002c0001t0001g0043 a0002c0001t0001g0045 a0002c0001t0001g0051 a0002c0001t0001g0056 a0002c0001t0001g0061 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0083 a0002c0001t0001g0096 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0002g0111 a0002c0001t0003g0008 a0002c0001t0003g0019 a0002c0001t0004g0001 a0002c0001t0008g0040 a0002c0004t0001g0026 a0002c0004t0001g0042 a0002c0008t0001g0030 a0003c0006t0001g0022 a0004c0005t0001g0050 a0004c0005t0001g0058 a0006c0009t0005g0002	69	110	0.6273	-31	c.216 others(48): Show c.2164-169_2164-139delGGGAGAGGGAAAGAGGGAGGGAAGGAAG GAA	CEP112	ENSG00000154240.18	transcript	ENST00000535342.7	protein_coding	20/26			chr17	TogoVar
CEP126_chr11_101910010_102006062	101911094	CTTTTTTT others(24): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	7	0.1429	-31	c.-41 others(42): Show c.-4190_-4160delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding		3915		chr11	TogoVar
CEP170_chr1_243119428_243260281	243146905	GAAGACCA others(24): Show GAAGACCAATTGTGAATCCCCCCTAACCAGTA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02258.hp1 others(10): Show HG01884.hp2 HG02109.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02896.hp1 HG03195.hp1 HG03209.hp2 NA18906.hp1 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0003 a0001c0001t0001 a0001c0001t0002 a0003c0003t0003	a0001c0001t0001g0107 a0001c0001t0002g0104 a0003c0003t0003g0102 others(10): Show a0001c0001t0001g0107 a0001c0001t0002g0104 a0003c0003t0003g0102 a0003c0003t0003g0175 a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0178 a0003c0003t0003g0179 a0003c0003t0003g0180 a0003c0003t0003g0181 a0003c0003t0003g0182 a0003c0003t0003g0183 a0003c0003t0003g0184	13	288	0.0451	-31	c.391 others(50): Show c.3912-4473_3912-4443delTACTGGTTAGGGGGGATTCACAATTG GTCTT	CEP170	ENSG00000143702.16	transcript	ENST00000366542.6	protein_coding	14/19			chr1	TogoVar
CEP250_chr20_35450598_35524280	35451047	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG03471.hp2 HG01167.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0048 a0001c0001t0003 a0001c0001t0048	a0001c0001t0003g0027 a0001c0001t0048g0089 a0001c0001t0003g0027 a0001c0001t0048g0089	2	258	0.0078	-31	c.-50 others(42): Show c.-5001_-4971delAAAAAAAAAAAAAAAAAATATATATATATAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding		4550		chr20	TogoVar
CEP250_chr20_35450598_35524280	35451049	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(136): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01993.hp2 HG02015.hp2 HG02040.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18961.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA19000.hp2 NA19004.hp2 NA19009.hp2 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19067.hp2 NA19079.hp1 NA19089.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0008 a0011 a0012 a0013 a0015 a0016 a0017	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0011 a0001c0017 a0001c0021 a0002c0002 a0002c0009 a0003c0004 a0003c0013 a0004c0006 a0005c0007 a0008c0012 a0011c0014 a0012c0027 a0013c0016 a0015c0024 a0016c0015 a0017c0020	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(45): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0001t0017 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0047 a0001c0001t0051 a0001c0001t0053 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0003t0046 a0001c0003t0049 a0001c0003t0050 a0001c0003t0052 a0001c0003t0060 a0001c0005t0010 a0001c0005t0064 a0001c0011t0023 a0001c0011t0062 a0001c0017t0063 a0001c0021t0002 a0002c0002t0002 a0002c0002t0008 a0002c0002t0015 a0002c0002t0016 a0002c0002t0040 a0002c0002t0042 a0002c0009t0002 a0003c0004t0006 a0003c0004t0025 a0003c0013t0006 a0004c0006t0009 a0004c0006t0044 a0005c0007t0021 a0005c0007t0022 a0005c0007t0061 a0008c0012t0024 a0011c0014t0055 a0012c0027t0058 a0013c0016t0023 a0015c0024t0005 a0016c0015t0002 a0017c0020t0008	a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 others(130): Show a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0003g0013 a0001c0001t0003g0044 a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0090 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0005g0003 a0001c0001t0005g0010 a0001c0001t0005g0041 a0001c0001t0005g0059 a0001c0001t0005g0070 a0001c0001t0005g0073 a0001c0001t0005g0104 a0001c0001t0014g0003 a0001c0001t0014g0010 a0001c0001t0017g0127 a0001c0001t0017g0128 a0001c0001t0039g0056 a0001c0001t0041g0045 a0001c0001t0043g0099 a0001c0001t0045g0092 a0001c0001t0047g0094 a0001c0001t0051g0093 a0001c0001t0053g0091 a0001c0003t0003g0108 a0001c0003t0004g0006 a0001c0003t0004g0025 a0001c0003t0004g0026 a0001c0003t0004g0107 a0001c0003t0004g0109 a0001c0003t0004g0111 a0001c0003t0004g0112 a0001c0003t0004g0118 a0001c0003t0004g0121 a0001c0003t0004g0122 a0001c0003t0004g0124 a0001c0003t0004g0125 a0001c0003t0007g0115 a0001c0003t0007g0116 a0001c0003t0007g0117 a0001c0003t0007g0119 a0001c0003t0007g0120 a0001c0003t0007g0123 a0001c0003t0007g0129 a0001c0003t0046g0126 a0001c0003t0049g0230 a0001c0003t0050g0106 a0001c0003t0052g0113 a0001c0003t0060g0110 a0001c0005t0010g0137 a0001c0005t0064g0136 a0001c0011t0023g0042 a0001c0011t0062g0133 a0001c0017t0063g0072 a0001c0021t0002g0024 a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0012 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0105 a0002c0002t0002g0135 a0002c0002t0008g0012 a0002c0002t0008g0053 a0002c0002t0008g0067 a0002c0002t0008g0069 a0002c0002t0008g0080 a0002c0002t0015g0066 a0002c0002t0015g0134 a0002c0002t0016g0007 a0002c0002t0016g0062 a0002c0002t0040g0007 a0002c0002t0042g0057 a0002c0009t0002g0011 a0002c0009t0002g0061 a0003c0004t0006g0031 a0003c0004t0006g0032 a0003c0004t0006g0033 a0003c0004t0006g0035 a0003c0004t0006g0036 a0003c0004t0006g0037 a0003c0004t0025g0034 a0003c0013t0006g0029 a0004c0006t0009g0018 a0004c0006t0009g0019 a0004c0006t0009g0020 a0004c0006t0009g0021 a0004c0006t0009g0023 a0004c0006t0044g0022 a0005c0007t0021g0014 a0005c0007t0021g0131 a0005c0007t0022g0130 a0005c0007t0022g0132 a0005c0007t0061g0014 a0008c0012t0024g0074 a0011c0014t0055g0028 a0012c0027t0058g0114 a0013c0016t0023g0043 a0015c0024t0005g0077 a0016c0015t0002g0102 a0017c0020t0008g0064	139	258	0.5388	-31	c.-49 others(42): Show c.-4999_-4969delAAAAAAAAAAAAAAAATATATATATATATAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding		4548		chr20	TogoVar
CEP250_chr20_35450598_35524280	35451051	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01261.hp1 HG02895.hp1 others(1): Show HG01109.hp2 HG01261.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0138 a0001c0005t0010g0139 a0001c0005t0010g0140 others(1): Show a0001c0005t0010g0138 a0001c0005t0010g0139 a0001c0005t0010g0140 a0001c0005t0010g0141	4	253	0.0158	-31	c.-49 others(42): Show c.-4997_-4967delAAAAAAAAAAAAAATATATATATATATATAT	CEP250	ENSG00000126001.17	transcript	ENST00000397527.6	protein_coding		4546		chr20	TogoVar
CEP57L1_chr6_109090507_109179418	109136697	GTATTTTT others(24): Show GTATTTTTATTTTATTTTATTTTATTTTATTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03225.hp1 HG03540.hp2 others(2): Show HG02572.hp1 HG03225.hp1 HG03540.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0025 a0001c0001t0026 a0001c0001t0011 a0001c0001t0025 a0001c0001t0026	a0001c0001t0011g0218 a0001c0001t0011g0219 a0001c0001t0011g0220 others(2): Show a0001c0001t0011g0218 a0001c0001t0011g0219 a0001c0001t0011g0220 a0001c0001t0025g0217 a0001c0001t0026g0221	5	185	0.0270	-31	c.-3- others(46): Show c.-3-8515_-3-8485delTATTTTATTTTATTTTATTTTATTTTATTT T	CEP57L1	ENSG00000183137.16	transcript	ENST00000517392.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
CERS4_chr19_8204370_8267421	8226769	GATTGCCT others(24): Show GATTGCCTGAGGTCAAGAGTTCGAGACCAGCC	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	415	0.0024	-31	c.-2+ others(48): Show c.-2+15908_-2+15938delATTGCCTGAGGTCAAGAGTTCGAGACCA GCC	CERS4	ENSG00000090661.12	transcript	ENST00000251363.10	protein_coding	2/11			chr19	TogoVar
CERS5_chr12_50124289_50172369	50145358	CACTAGGA others(24): Show CACTAGGAAAACTCTATATTGCCACTTTCAGG	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0191 a0001c0001t0015g0191	1	318	0.0031	-31	c.198 others(48): Show c.198-1332_198-1302delCCTGAAAGTGGCAATATAGAGTTTTCCT AGT	CERS5	ENSG00000139624.14	transcript	ENST00000317551.12	protein_coding	1/9			chr12	TogoVar
CFAP141_chr1_154194085_154211333	154203171	AAATATAT others(24): Show AAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18998.hp1 NA18952.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	362	0.0055	-31	c.74+ others(46): Show c.74+2396_74+2426delATATATATATATATATATATATATATATAT T	CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3			chr1	TogoVar
CFAP46_chr10_132803392_132947570	132822004	GTGTGTGC others(24): Show GTGTGTGCTGATGTGTGCTGTGTGAGTGCTGA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0050 a0050	a0050c0071 a0050c0071	a0050c0071t0002 a0050c0071t0002	a0050c0071t0002g0003 a0050c0071t0002g0003	1	244	0.0041	-31	c.711 others(50): Show c.7118-7121_7118-7091delTCAGCACTCACACAGCACACATCAGC ACACA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132867137	GCACACTG others(24): Show GCACACTGACACACACACAGGCCGGCCCCTCA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02109.hp2 HG02886.hp1 HG00733.hp2 HG02109.hp2 HG02886.hp1	a0031 a0044 a0052 a0031 a0044 a0052	a0031c0101 a0044c0102 a0052c0037 a0031c0101 a0044c0102 a0052c0037	a0031c0101t0002 a0044c0102t0002 a0052c0037t0001 a0031c0101t0002 a0044c0102t0002 a0052c0037t0001	a0031c0101t0002g0022 a0044c0102t0002g0019 a0052c0037t0001g0230 a0031c0101t0002g0022 a0044c0102t0002g0019 a0052c0037t0001g0230	3	243	0.0123	-31	c.474 others(48): Show c.4743+207_4743+237delTGAGGGGCCGGCCTGTGTGTGTGTCAGT GTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	34/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132930817	GCAGAGCC others(24): Show GCAGAGCCTGGGCCTTCCCCACACTCCTCACA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01169.hp1 HG01257.hp2 others(12): Show HG01069.hp2 HG01169.hp1 HG01257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02615.hp2 HG02630.hp1 HG02895.hp2 HG03017.hp1 HG03486.hp2 HG03669.hp1 HG04228.hp1 NA18906.hp1 NA19060.hp2	a0010 a0012 a0021 others(9): Show a0010 a0012 a0021 a0033 a0047 a0048 a0050 a0054 a0057 a0063 a0064 a0071	a0010c0072 a0012c0025 a0012c0073 others(10): Show a0010c0072 a0012c0025 a0012c0073 a0021c0033 a0033c0074 a0047c0070 a0048c0069 a0050c0071 a0054c0105 a0057c0104 a0063c0067 a0064c0109 a0071c0068	a0010c0072t0002 a0012c0025t0002 a0012c0073t0002 others(11): Show a0010c0072t0002 a0012c0025t0002 a0012c0073t0002 a0021c0033t0001 a0021c0033t0004 a0033c0074t0002 a0047c0070t0002 a0048c0069t0002 a0050c0071t0002 a0054c0105t0001 a0057c0104t0001 a0063c0067t0002 a0064c0109t0002 a0071c0068t0002	a0010c0072t0002g0004 a0012c0025t0002g0007 a0012c0025t0002g0014 others(12): Show a0010c0072t0002g0004 a0012c0025t0002g0007 a0012c0025t0002g0014 a0012c0073t0002g0005 a0021c0033t0001g0237 a0021c0033t0004g0238 a0033c0074t0002g0006 a0047c0070t0002g0008 a0048c0069t0002g0015 a0050c0071t0002g0003 a0054c0105t0001g0239 a0057c0104t0001g0236 a0063c0067t0002g0013 a0064c0109t0002g0104 a0071c0068t0002g0012	15	244	0.0615	-31	c.867 others(48): Show c.867-1044_867-1014delTGTGAGGAGTGTGGGGAAGGCCCAGGCT CTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	8/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132931226	ACAGAGCC others(24): Show ACAGAGCCTGGGCCTTCCCCACACTCCCCACG	A A	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA19007.hp1 HG01517.hp1 NA19007.hp1	a0001 a0039 a0001 a0039	a0001c0001 a0039c0079 a0001c0001 a0039c0079	a0001c0001t0002 a0039c0079t0002 a0001c0001t0002 a0039c0079t0002	a0001c0001t0002g0068 a0039c0079t0002g0052 a0001c0001t0002g0068 a0039c0079t0002g0052	2	244	0.0082	-31	c.867 others(48): Show c.867-1453_867-1423delCGTGGGGAGTGTGGGGAAGGCCCAGGCT CTG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	8/57			chr10	TogoVar
CFAP58_chr10_104348833_104460102	104396408	GAGAGAGA others(24): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0166 a0001c0003t0002g0166	1	306	0.0033	-31	c.167 others(50): Show c.1674+2935_1675-2920delGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP74_chr1_1916957_2008786	1937841	ACACCAGG others(24): Show ACACCAGGTCCACCTCTGGACACAGGTCCACC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(149): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18940.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19064.hp2 NA19065.hp1 NA19070.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0006 a0008 a0011 a0012 a0014 a0016 a0020 a0021 a0024 a0026 a0027 a0029 a0030 a0032 a0033 a0035 a0038 a0039 a0040 a0041 a0042 a0046 a0047 a0048	a0001c0017 a0001c0025 a0001c0030 others(50): Show a0001c0017 a0001c0025 a0001c0030 a0001c0035 a0001c0064 a0001c0065 a0001c0067 a0001c0069 a0001c0096 a0001c0097 a0002c0001 a0002c0006 a0002c0020 a0002c0022 a0002c0055 a0002c0081 a0003c0004 a0003c0005 a0003c0008 a0003c0047 a0003c0056 a0003c0057 a0003c0074 a0003c0076 a0003c0084 a0003c0089 a0006c0018 a0006c0026 a0008c0009 a0008c0073 a0011c0014 a0012c0024 a0012c0061 a0014c0043 a0016c0033 a0020c0028 a0021c0079 a0024c0100 a0026c0098 a0027c0087 a0029c0082 a0030c0052 a0032c0048 a0033c0094 a0035c0091 a0038c0075 a0039c0088 a0040c0038 a0041c0099 a0042c0078 a0046c0080 a0047c0054 a0048c0090	a0001c0017t0002 a0001c0025t0001 a0001c0030t0001 others(51): Show a0001c0017t0002 a0001c0025t0001 a0001c0030t0001 a0001c0035t0002 a0001c0064t0001 a0001c0065t0001 a0001c0067t0001 a0001c0069t0001 a0001c0096t0001 a0001c0097t0002 a0002c0001t0001 a0002c0006t0001 a0002c0020t0001 a0002c0022t0001 a0002c0055t0001 a0002c0081t0001 a0003c0004t0002 a0003c0005t0002 a0003c0008t0002 a0003c0008t0005 a0003c0047t0009 a0003c0056t0002 a0003c0057t0002 a0003c0074t0002 a0003c0076t0002 a0003c0084t0002 a0003c0089t0002 a0006c0018t0001 a0006c0026t0002 a0008c0009t0001 a0008c0073t0001 a0011c0014t0001 a0012c0024t0002 a0012c0061t0002 a0014c0043t0002 a0016c0033t0001 a0020c0028t0002 a0021c0079t0001 a0024c0100t0002 a0026c0098t0002 a0027c0087t0001 a0029c0082t0001 a0030c0052t0002 a0032c0048t0001 a0033c0094t0001 a0035c0091t0004 a0038c0075t0001 a0039c0088t0001 a0040c0038t0003 a0041c0099t0002 a0042c0078t0001 a0046c0080t0001 a0047c0054t0002 a0048c0090t0002	a0001c0017t0002g0026 a0001c0017t0002g0027 a0001c0017t0002g0073 others(149): Show a0001c0017t0002g0026 a0001c0017t0002g0027 a0001c0017t0002g0073 a0001c0017t0002g0225 a0001c0025t0001g0010 a0001c0025t0001g0162 a0001c0025t0001g0276 a0001c0030t0001g0045 a0001c0030t0001g0154 a0001c0035t0002g0121 a0001c0035t0002g0147 a0001c0064t0001g0055 a0001c0065t0001g0252 a0001c0067t0001g0258 a0001c0069t0001g0071 a0001c0096t0001g0049 a0001c0097t0002g0085 a0002c0001t0001g0006 a0002c0001t0001g0019 a0002c0001t0001g0022 a0002c0001t0001g0050 a0002c0001t0001g0095 a0002c0001t0001g0096 a0002c0001t0001g0098 a0002c0001t0001g0100 a0002c0001t0001g0128 a0002c0001t0001g0145 a0002c0001t0001g0148 a0002c0001t0001g0152 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0164 a0002c0001t0001g0169 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0182 a0002c0001t0001g0187 a0002c0001t0001g0194 a0002c0001t0001g0201 a0002c0001t0001g0207 a0002c0001t0001g0209 a0002c0001t0001g0215 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0250 a0002c0001t0001g0255 a0002c0001t0001g0260 a0002c0001t0001g0262 a0002c0001t0001g0263 a0002c0001t0001g0268 a0002c0001t0001g0272 a0002c0006t0001g0020 a0002c0006t0001g0057 a0002c0006t0001g0080 a0002c0006t0001g0094 a0002c0006t0001g0115 a0002c0006t0001g0160 a0002c0006t0001g0188 a0002c0006t0001g0242 a0002c0006t0001g0249 a0002c0020t0001g0130 a0002c0020t0001g0131 a0002c0020t0001g0133 a0002c0022t0001g0016 a0002c0022t0001g0117 a0002c0022t0001g0233 a0002c0055t0001g0229 a0002c0081t0001g0196 a0003c0004t0002g0031 a0003c0004t0002g0032 a0003c0004t0002g0058 a0003c0004t0002g0065 a0003c0004t0002g0070 a0003c0004t0002g0074 a0003c0004t0002g0079 a0003c0004t0002g0146 a0003c0004t0002g0226 a0003c0004t0002g0244 a0003c0004t0002g0257 a0003c0004t0002g0259 a0003c0004t0002g0265 a0003c0005t0002g0017 a0003c0005t0002g0029 a0003c0005t0002g0061 a0003c0005t0002g0067 a0003c0005t0002g0078 a0003c0005t0002g0082 a0003c0005t0002g0083 a0003c0005t0002g0120 a0003c0005t0002g0124 a0003c0005t0002g0136 a0003c0005t0002g0212 a0003c0008t0002g0003 a0003c0008t0002g0054 a0003c0008t0002g0113 a0003c0008t0002g0114 a0003c0008t0002g0193 a0003c0008t0002g0211 a0003c0008t0005g0167 a0003c0047t0009g0270 a0003c0056t0002g0217 a0003c0057t0002g0060 a0003c0074t0002g0033 a0003c0076t0002g0069 a0003c0084t0002g0051 a0003c0089t0002g0101 a0006c0018t0001g0023 a0006c0018t0001g0180 a0006c0018t0001g0181 a0006c0018t0001g0184 a0006c0026t0002g0011 a0006c0026t0002g0110 a0008c0009t0001g0103 a0008c0009t0001g0107 a0008c0009t0001g0138 a0008c0009t0001g0149 a0008c0009t0001g0170 a0008c0009t0001g0206 a0008c0073t0001g0241 a0011c0014t0001g0038 a0011c0014t0001g0039 a0011c0014t0001g0041 a0011c0014t0001g0042 a0011c0014t0001g0104 a0012c0024t0002g0004 a0012c0024t0002g0086 a0012c0024t0002g0126 a0012c0061t0002g0198 a0014c0043t0002g0274 a0016c0033t0001g0007 a0016c0033t0001g0009 a0020c0028t0002g0056 a0020c0028t0002g0248 a0021c0079t0001g0273 a0024c0100t0002g0028 a0026c0098t0002g0173 a0027c0087t0001g0197 a0029c0082t0001g0185 a0030c0052t0002g0118 a0032c0048t0001g0119 a0033c0094t0001g0018 a0035c0091t0004g0024 a0038c0075t0001g0084 a0039c0088t0001g0137 a0040c0038t0003g0251 a0041c0099t0002g0144 a0042c0078t0001g0132 a0046c0080t0001g0240 a0047c0054t0002g0068 a0048c0090t0002g0001	152	276	0.5507	-31	c.301 others(49): Show c.3011+983_3011+1013delGGTGGACCTGTGTCCAGAGGTGGACCT GGTG	CFAP74	ENSG00000142609.20	transcript	ENST00000682832.2	protein_coding	25/38			chr1	TogoVar
CFAP77_chr9_132405211_132578319	132486041	TGTATGTA others(24): Show TGTATGTATATGTATGTGTGTGTGTGTATATA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0002 a0005c0014t0002	a0005c0014t0002g0182 a0005c0014t0002g0182	1	312	0.0032	-31	c.196 others(50): Show c.196-12653_196-12623delGTATGTATATGTATGTGTGTGTGTGT ATATA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	1/5			chr9	TogoVar
CFHR4_chr1_196883052_196923633	196885489	TTATATAT others(24): Show TTATATATATATGATATATATGATATATATCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02647.hp1 others(6): Show HG02258.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02976.hp1 NA18522.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0051 others(4): Show a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055	9	347	0.0259	-31	c.-26 others(42): Show c.-2661_-2631delTATATATATATGATATATATGATATATATCA	CFHR4	ENSG00000134365.15	transcript	ENST00000608469.6	protein_coding		2562		chr1	TogoVar
CHADL_chr22_41224513_41245931	41242136	ATATATAC others(24): Show ATATATACATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02258.hp1 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0002 a0002c0003t0001 a0002c0004t0002	a0002c0003t0001g0164 a0002c0004t0002g0197 a0002c0003t0001g0164 a0002c0004t0002g0197	2	397	0.0050	-31	c.-12 others(42): Show c.-1286_-1256delATATATATATATATATATATATATGTATATA	CHADL	ENSG00000100399.16	transcript	ENST00000216241.14	protein_coding		1206		chr22	TogoVar
CHCHD6_chr3_126699240_126965420	126862294	TCCTCCTC others(24): Show TCCTCCTCCTCTACCATCATCACCTCCTCCTC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	211	0.0047	-31	c.495 others(48): Show c.495+9566_495+9596delCTCCTCCTCTACCATCATCACCTCCTCC TCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD3_chr17_7883789_7917755	7893969	GGGGCCAA others(24): Show GGGGCCAAGGATCCAGAGACAGGGATCCGTGA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01071.hp1 HG02257.hp1 others(7): Show HG00621.hp1 HG01071.hp1 HG02257.hp1 HG02293.hp1 HG02559.hp2 HG02735.hp1 HG03195.hp1 HG03486.hp1 NA18906.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 others(7): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0195 a0001c0003t0001g0058 a0002c0002t0001g0167 a0002c0002t0001g0168	10	273	0.0366	-31	c.924 others(44): Show c.924+69_925-81delCCAAGGATCCAGAGACAGGGATCCGTGAGGG	CHD3	ENSG00000170004.19	transcript	ENST00000330494.12	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr17	TogoVar
CHGB_chr20_5906510_5930353	5926065	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0003 a0015c0014t0003	a0015c0014t0003g0074 a0015c0014t0003g0074	1	435	0.0023	-31	c.10 others(42): Show c.1017_*1047delAAAATATATATATATATATATATATATATAT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		713		chr20	TogoVar
CHI3L2_chr1_111222713_111248440	111245821	CTCTCCTC others(24): Show CTCTCCTCTCCTCTCCGCTACTTTCCTTTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0008 a0001c0002t0004g0008	1	432	0.0023	-31	c.26 others(42): Show c.2608_*2638delTCTCCTCTCCTCTCCGCTACTTTCCTTTCCT	CHI3L2	ENSG00000064886.14	transcript	ENST00000369748.9	protein_coding		2382		chr1	TogoVar
CHMP1A_chr16_89639435_89662708	89649157	ACTCAACC others(24): Show ACTCAACCTCCCCACCCCACGCTGATCCAGCC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01109.hp2 HG00099.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0075 a0001c0001t0003g0069 a0001c0001t0003g0075	2	390	0.0051	-31	c.252 others(46): Show c.252+163_252+193delGGCTGGATCAGCGTGGGGTGGGGAGGTTGA G	CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	4/6			chr16	TogoVar
CHMP4A_chr14_24204615_24218488	24209057	GAAAGCTA others(24): Show GAAAGCTACTTGCTCCTTCCATTCCAAGTAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01074.hp2 others(50): Show HG00558.hp2 HG00673.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp2 HG03098.hp1 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03710.hp2 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18982.hp1 NA18988.hp2 NA19003.hp1 NA19007.hp2 NA19079.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0006c0007	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0006c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0026 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0004t0001g0043 a0002c0002t0001g0005 a0002c0002t0001g0015 a0002c0002t0001g0044 a0006c0007t0001g0048	53	153	0.3464	-31	c.78 others(40): Show c.789_*819delGCTACTTGGAATGGAAGGAGCAAGTAGCTTT	CHMP4A	ENSG00000254505.11	transcript	ENST00000347519.12	protein_coding		557		chr14	TogoVar
CHN2_chr7_29189775_29519328	29511866	GTTAAACC others(24): Show GTTAAACCAGCTTTGCAGTTTGAATTTTATTC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0157 a0001c0001t0015g0157	1	230	0.0043	-31	c.123 others(48): Show c.1236-692_1236-662delCCAGCTTTGCAGTTTGAATTTTATTCTT AAA	CHN2	ENSG00000106069.26	transcript	ENST00000222792.11	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHODL_chr21_18239833_18272370	18242518	TCAAACTG others(24): Show TCAAACTGTGATCTCTGAACTCAGTGATGACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00738.hp1 others(36): Show HG00597.hp1 HG00597.hp2 HG00738.hp1 HG01069.hp2 HG01106.hp1 HG01975.hp2 HG02055.hp1 HG02109.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp2 NA18522.hp1 NA18946.hp2 NA18967.hp2 NA18984.hp1 NA19003.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0024 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0194 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0240 a0001c0001t0002g0014 a0001c0001t0002g0023 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0003g0252 a0001c0001t0004g0013 a0001c0001t0004g0045 a0001c0001t0004g0261 a0001c0001t0006g0251 a0001c0001t0007g0245 a0001c0001t0010g0249 a0001c0001t0010g0253 a0001c0001t0010g0254 a0001c0001t0011g0258 a0001c0001t0011g0259 a0001c0001t0015g0244 a0001c0001t0024g0257 a0002c0005t0001g0226	39	400	0.0975	-31	c.-27 others(42): Show c.-2705_-2675delCAAACTGTGATCTCTGAACTCAGTGATGACC	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding		2314		chr21	TogoVar
CHODL_chr21_18239833_18272370	18248895	AATACATA others(24): Show AATACATATATATGTATAATACATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	376	0.0027	-31	c.79+ others(46): Show c.79+3606_79+3636delGTATAATACATATATATGTATACATATATA T	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHRD_chr3_184375054_184394829	184380188	GCCCCGGC others(24): Show GCCCCGGCCCCGGCCCCCTCCCGCCGCACCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0006 a0011c0027t0006	a0011c0027t0006g0018 a0011c0027t0006g0018	1	425	0.0024	-31	c.-12 others(39): Show c.-121_-91delCGGCCCCCTCCCGCCGCACCGCCCCCGGCCC	CHRD	ENSG00000090539.16	transcript	ENST00000204604.6	protein_coding	1/23	91	INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRNA7_chr15_32025515_32178018	32105454	AGAGGAGG others(24): Show AGAGGAGGAGGAAGAGGAGGAGAGGAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03209.hp1 HG03098.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0030 a0001c0010t0009 a0001c0001t0030 a0001c0010t0009	a0001c0001t0030g0041 a0001c0010t0009g0191 a0001c0001t0030g0041 a0001c0010t0009g0191	2	306	0.0065	-31	c.240 others(48): Show c.240+4117_240+4147delGAAGAGGAGGAGAGGAGGAAAGGAGGAG GAG	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHST8_chr19_33616953_33778506	33757383	AAAAGAAG others(24): Show AAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02683.hp1 NA18944.hp2 HG02071.hp1 HG02683.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0074 a0001c0001t0002g0046 a0001c0001t0003g0216 a0001c0001t0001g0074 a0001c0001t0002g0046 a0001c0001t0003g0216	3	228	0.0132	-31	c.131 others(50): Show c.131-14023_131-13993delGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757506	GAAAGAAA others(24): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	252	0.0040	-31	c.131 others(50): Show c.131-13904_131-13874delAGAAAGAAAGAAAGAGAAAGAAAGAA AGAAA	CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
CIDEA_chr18_12249361_12282595	12278022	GCTCACTG others(24): Show GCTCACTGCTGCCTCGACCTCCCTGGGCTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	446	0.0022	-31	c.75 others(40): Show c.753_*783delCTCACTGCTGCCTCGACCTCCCTGGGCTCAA	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding		428		chr18	TogoVar
CIDEA_chr18_12249361_12282595	12278186	CAATCCTC others(24): Show CAATCCTCCTACCTGGGCCTCCCAAAGTTCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	446	0.0022	-31	c.91 others(40): Show c.917_*947delAATCCTCCTACCTGGGCCTCCCAAAGTTCTG	CIDEA	ENSG00000176194.18	transcript	ENST00000320477.10	protein_coding		592		chr18	TogoVar
CKS2_chr9_89306195_89321703	89317981	AGAGTCTT others(24): Show AGAGTCTTGTAGGCTTTCCAGGTTTGTAGGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	438	0.0023	-31	c.15 others(42): Show c.1557_*1587delGAGTCTTGTAGGCTTTCCAGGTTTGTAGGAC	CKS2	ENSG00000123975.5	transcript	ENST00000314355.7	protein_coding		1279		chr9	TogoVar
CLCA2_chr1_86419171_86461553	86447329	AATACAAA others(24): Show AATACAAATTTATTCATCCCTTAACCAATGCT	A A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	412	0.0024	-31	c.171 others(48): Show c.1714-177_1714-147delTACAAATTTATTCATCCCTTAACCAATG CTA	CLCA2	ENSG00000137975.8	transcript	ENST00000370565.5	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLEC16A_chr16_10939564_11187186	11075277	TGGACAGC others(24): Show TGGACAGCTTCTGGGTGCAGCTGCACCAGAGG	T T	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18977.hp1 NA18971.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0192 a0001c0001t0001g0193	2	272	0.0074	-31	c.211 others(52): Show c.2116+14257_2116+14287delGACAGCTTCTGGGTGCAGCTGCAC CAGAGGG	CLEC16A	ENSG00000038532.17	transcript	ENST00000409790.6	protein_coding	19/23		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLEC18B_chr16_74403631_74426478	74424319	TTCTTTTA others(24): Show TTCTTTTAAAAATTACATGTCCAGGACAGGCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	286	0.0035	-31	c.-30 others(42): Show c.-3080_-3050delCGCCTGTCCTGGACATGTAATTTTTAAAAGA	CLEC18B	ENSG00000140839.13	transcript	ENST00000682950.1	protein_coding		2842		chr16	TogoVar
CLEC4F_chr2_70803643_70825599	70813482	CTCTTTCT others(24): Show CTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03130.hp2 HG03225.hp2 HG01243.hp2 HG03130.hp2 HG03225.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0144 a0005c0005t0001g0149 a0005c0005t0001g0150 a0005c0005t0001g0144 a0005c0005t0001g0149 a0005c0005t0001g0150	3	411	0.0073	-31	c.138 others(48): Show c.1388-915_1388-885delAAAGAAAGAAAGAAAGAAAAAGAAAGAA AGA	CLEC4F	ENSG00000152672.8	transcript	ENST00000272367.7	protein_coding	4/6			chr2	TogoVar
CLIC4_chr1_24740447_24849321	24766473	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01358.hp2 others(23): Show HG00558.hp2 HG00621.hp1 HG01358.hp2 HG01928.hp2 HG02040.hp1 HG02056.hp2 HG02155.hp2 HG03710.hp1 NA18612.hp2 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18979.hp1 NA18983.hp2 NA18998.hp1 NA19003.hp1 NA19006.hp1 NA19011.hp1 NA19062.hp1 NA19066.hp2 NA19082.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0019	a0001c0001t0001g0061 a0001c0001t0002g0237 a0001c0001t0003g0117 others(23): Show a0001c0001t0001g0061 a0001c0001t0002g0237 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0138 a0001c0001t0003g0145 a0001c0001t0003g0149 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0218 a0001c0001t0003g0224 a0001c0001t0003g0238 a0001c0001t0003g0245 a0001c0001t0003g0249 a0001c0001t0019g0114	26	27	0.9630	-31	c.72+ others(48): Show c.72+20866_72+20896delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLMN_chr14_95176940_95324908	95245194	AATATATA others(24): Show AATATATATATATATTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp1 HG02818.hp1 HG01884.hp1 HG02572.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0009 a0001c0002t0022 a0001c0001t0003 a0001c0001t0009 a0001c0002t0022	a0001c0001t0003g0111 a0001c0001t0009g0057 a0001c0002t0022g0050 a0001c0001t0003g0111 a0001c0001t0009g0057 a0001c0002t0022g0050	3	252	0.0119	-31	c.83- others(48): Show c.83-15092_83-15062delATATATATATATATATAATATATATATA TAT	CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12			chr14	TogoVar
CLMP_chr11_123064872_123200248	123129432	TATATCAT others(24): Show TATATCATATGATATATTATATAAAATATATC	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0186 a0001c0001t0012g0186	1	252	0.0040	-31	c.29- others(48): Show c.29-31511_29-31481delGATATATTTTATATAATATATCATATGA TAT	CLMP	ENSG00000166250.12	transcript	ENST00000448775.4	protein_coding	1/6			chr11	TogoVar
CLPSL1_chr6_35776019_35793150	35785706	ATCACCTG others(24): Show ATCACCTGACATTCCTGGTGGGTGGGGGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	442	0.0023	-31	c.100 others(48): Show c.100-1291_100-1261delTCACCTGACATTCCTGGTGGGTGGGGGA GAG	CLPSL1	ENSG00000204140.10	transcript	ENST00000373861.6	protein_coding	1/2			chr6	TogoVar
CLPTM1L_chr5_1312752_1350099	1327218	TACAGACA others(24): Show TACAGACACATTTCATCCAGCTCCTCCTCGAC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp2 HG02922.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0264 a0001c0001t0001g0265	2	368	0.0054	-31	c.108 others(50): Show c.1081-1433_1081-1403delGTCGAGGAGGAGCTGGATGAAATGTG TCTGT	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar

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