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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CDK12_chr17_39456486_39539544	39481668	CTCTCTCT others(37): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02257.hp1 others(1): Show HG01070.hp1 HG01071.hp2 HG02257.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0015 a0001c0001t0039 a0001c0001t0011 a0001c0001t0015 a0001c0001t0039	a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0015g0099 others(1): Show a0001c0001t0011g0103 a0001c0001t0011g0104 a0001c0001t0015g0099 a0001c0001t0039g0102	4	260	0.0154	-44	c.193 others(63): Show c.1932-8883_1932-8840delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTTTCTCT		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CDK19_chr6_110604978_110820469	110609780	GCTTCTAG others(37): Show GCTTCTAGGCACACAGATAAAATTTTAACGCTAGATGGGGTCTCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0017 a0001c0001t0005g0017	1	300	0.0033	-44	c.47 others(55): Show c.4711_*4754delTGAGACCCCATCTAGCGTTAAAATTTTATCTGTG TGCCTAGAAG		CDK19	ENSG00000155111.15	transcript	ENST00000368911.8	protein_coding					197		chr6	TogoVar
CDS1_chr4_84578127_84656334	84635593	GCCTGCCT others(37): Show GCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTTCCTTCCTT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0046 a0001c0001t0007g0046	1	384	0.0026	-44	c.810 others(59): Show c.810+246_810+289delGCCTGCCTGCCTGCCTGCCTGCCTGCCTGC CTTCCTTCCTTCCT		CDS1	ENSG00000163624.6	transcript	ENST00000295887.6	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr4	TogoVar
CEACAM20_chr19_44501159_44534675	44518099	AAAGAAAG others(37): Show AAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00621.hp2 others(29): Show HG00323.hp1 HG00423.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp2 HG01978.hp1 HG02074.hp2 HG02683.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02976.hp1 HG03195.hp1 HG03486.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 NA18747.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18968.hp1 NA18974.hp1 NA18985.hp2 NA18999.hp1 NA19056.hp1 NA19080.hp2 NA19081.hp1 NA19084.hp2 NA20805.hp2	a0003 a0004 a0007 others(3): Show a0003 a0004 a0007 a0015 a0029 a0031	a0003c0012 a0004c0011 a0007c0008 others(4): Show a0003c0012 a0004c0011 a0007c0008 a0007c0022 a0015c0020 a0029c0035 a0031c0048	a0003c0012t0001 a0004c0011t0001 a0007c0008t0001 others(4): Show a0003c0012t0001 a0004c0011t0001 a0007c0008t0001 a0007c0022t0001 a0015c0020t0001 a0029c0035t0001 a0031c0048t0001	a0003c0012t0001g0092 a0004c0011t0001g0091 a0004c0011t0001g0093 others(29): Show a0003c0012t0001g0092 a0004c0011t0001g0091 a0004c0011t0001g0093 a0007c0008t0001g0067 a0007c0008t0001g0081 a0007c0008t0001g0082 a0007c0008t0001g0089 a0007c0008t0001g0090 a0007c0008t0001g0094 a0007c0008t0001g0095 a0007c0008t0001g0096 a0007c0008t0001g0097 a0007c0008t0001g0100 a0007c0008t0001g0101 a0007c0008t0001g0102 a0007c0008t0001g0103 a0007c0008t0001g0104 a0007c0008t0001g0105 a0007c0008t0001g0108 a0007c0008t0001g0110 a0007c0008t0001g0111 a0007c0008t0001g0113 a0007c0022t0001g0138 a0007c0022t0001g0139 a0007c0022t0001g0140 a0007c0022t0001g0141 a0015c0020t0001g0083 a0015c0020t0001g0084 a0015c0020t0001g0098 a0015c0020t0001g0099 a0029c0035t0001g0119 a0031c0048t0001g0163	32	438	0.0731	-44	c.103 others(61): Show c.1031-919_1031-876delCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTTCTT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding	5/11						chr19	TogoVar
CEACAM20_chr19_44501159_44534675	44532541	AAGGAAAG others(37): Show AAGGAAAGAAAGGAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01109.hp2 HG01361.hp1 others(3): Show HG00642.hp2 HG01109.hp2 HG01361.hp1 NA18953.hp2 NA18971.hp2 NA19001.hp2	a0009 a0022 a0009 a0022	a0009c0007 a0022c0027 a0009c0007 a0022c0027	a0009c0007t0001 a0022c0027t0001 a0009c0007t0001 a0022c0027t0001	a0009c0007t0001g0002 a0009c0007t0001g0055 a0009c0007t0001g0061 others(3): Show a0009c0007t0001g0002 a0009c0007t0001g0055 a0009c0007t0001g0061 a0009c0007t0001g0063 a0009c0007t0001g0078 a0022c0027t0001g0057	6	438	0.0137	-44	c.-30 others(55): Show c.-3076_-3033delCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTCC TTTCTTTCCT		CEACAM20	ENSG00000273777.6	transcript	ENST00000614924.5	protein_coding					2867		chr19	TogoVar
CEACAM4_chr19_41614015_41632074	41622841	TATATACA others(37): Show TATATACATATATATAGATAGATAGATAGATAGATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00673.hp2 HG01123.hp1 others(99): Show HG00597.hp2 HG00673.hp2 HG01123.hp1 HG01123.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02572.hp1 HG02622.hp1 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03017.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03688.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19009.hp2 NA19012.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp1 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19091.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005	a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 others(8): Show a0001c0001t0002 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0009 a0001c0002t0015 a0002c0003t0001 a0002c0003t0002 a0002c0003t0006 a0004c0005t0002	a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0011 others(43): Show a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0077 a0001c0001t0002g0087 a0001c0001t0002g0094 a0001c0001t0002g0105 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0132 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0010g0143 a0001c0002t0001g0119 a0001c0002t0002g0012 a0001c0002t0002g0023 a0001c0002t0002g0101 a0001c0002t0002g0104 a0001c0002t0002g0109 a0001c0002t0002g0111 a0001c0002t0002g0115 a0001c0002t0006g0084 a0001c0002t0006g0154 a0001c0002t0006g0157 a0001c0002t0009g0063 a0001c0002t0015g0267 a0002c0003t0001g0197 a0002c0003t0001g0241 a0002c0003t0002g0024 a0002c0003t0002g0026 a0002c0003t0002g0054 a0002c0003t0002g0163 a0002c0003t0002g0183 a0002c0003t0002g0190 a0002c0003t0002g0213 a0002c0003t0002g0214 a0002c0003t0006g0055 a0002c0003t0006g0248 a0004c0005t0002g0133 a0004c0005t0002g0153	102	437	0.2334	-44	c.425 others(61): Show c.425-1117_425-1074delCTATCTATCTATCTATCTATCTATCTAT CTATATATATGTATAT		CEACAM4	ENSG00000105352.11	transcript	ENST00000221954.7	protein_coding	2/6						chr19	TogoVar
CEBPZOS_chr2_37191496_37209743	37194875	CCCTCCCT others(37): Show CCCTCCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0004 a0001c0001t0005g0004	1	466	0.0022	-44	c.-16 others(55): Show c.-1646_-1603delCCTCCCTTCCTTCCTTCCTTCTTTCCTTCCTTCC TTCCTTCCTT		CEBPZOS	ENSG00000218739.10	transcript	ENST00000402297.6	protein_coding					1620		chr2	TogoVar
CECR2_chr22_17364460_17563151	17419526	GAAGAGGA others(37): Show GAAGAGGAAGAGGAAGAGGAAGAGGAGGAGGAGGAGGAGGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA20300.hp2 HG02723.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0021 a0002c0002t0027 a0001c0001t0021 a0002c0002t0027	a0001c0001t0021g0317 a0002c0002t0027g0133 a0001c0001t0021g0317 a0002c0002t0027g0133	2	324	0.0062	-44	c.126 others(63): Show c.126+49622_126+49665delGGAAGAGGAAGAGGAAGAGGAGGAGG AGGAGGAGGAAGAAAAGA		CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
CELF2_chr10_11012872_11341675	11142929	GTCCCCTC others(37): Show GTCCCCTCGTGATTCTTCTGTCCTCCCTCCACTGGGGGAACTCAC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0075 a0001c0001t0032g0075	1	194	0.0052	-44	c.75- others(61): Show c.75-22519_75-22476delAACTCACTCCCCTCGTGATTCTTCTGTC CTCCCTCCACTGGGGG		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CELSR1_chr22_46356174_46542620	46498249	CAAAAAAA others(37): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAGCGAAACTCTGTCTCAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02129.hp2 HG00639.hp2 HG02129.hp2	a0001 a0005 a0001 a0005	a0001c0006 a0005c0033 a0001c0006 a0005c0033	a0001c0006t0001 a0005c0033t0002 a0001c0006t0001 a0005c0033t0002	a0001c0006t0001g0044 a0005c0033t0002g0050 a0001c0006t0001g0044 a0005c0033t0002g0050	2	104	0.0192	-44	c.354 others(65): Show c.3545-33948_3545-33905delTTGAGACAGAGTTTCGCTTTTTTT TTTTTTTTTTTTTTTTTTTT		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34						chr22	TogoVar
CENPF_chr1_214598195_214669571	214616819	CTTCTTTC others(37): Show CTTCTTTCCTTCCTTCCTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp1 HG01109.hp2 HG02257.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0004 a0012c0015t0004	a0012c0015t0004g0051 a0012c0015t0004g0052 a0012c0015t0004g0051 a0012c0015t0004g0052	2	282	0.0071	-44	c.360 others(61): Show c.360-1752_360-1709delTCTTTCCTTCCTTCCTCTTTCTTTCTTT CTTTCTTTCTTTCTTT		CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPF_chr1_214598195_214669571	214616835	CTCTTTCT others(37): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01928.hp2 HG01496.hp1 HG01928.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0003 a0005c0005t0003	a0005c0005t0003g0016 a0005c0005t0003g0016	2	282	0.0071	-44	c.360 others(61): Show c.360-1693_360-1650delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT		CENPF	ENSG00000117724.15	transcript	ENST00000366955.8	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr1	TogoVar
CENPK_chr5_65512766_65568168	65527498	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	374	0.0027	-44	c.597 others(59): Show c.597+910_597+953delATATATATATATATATATATATATATATAT ATATATATATATAT		CENPK	ENSG00000123219.13	transcript	ENST00000396679.6	protein_coding	9/10						chr5	TogoVar
CENPM_chr22_41933737_41952152	41939159	ACCAGGCG others(37): Show ACCAGGCGCTGCGCCATGGTGGCCCTAAAGCCTTCCACCTGCGGG	A A	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18939.hp1 NA18939.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0139 a0004c0005t0002g0139	1	258	0.0039	-44	c.403 others(53): Show c.403-7_439delCCCGCAGGTGGAAGGCTTTAGGGCCACCATGGCGCA GCGCCTGG	p.Val others(5): Show p.Val135fs	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	6/6	515/938	403/543	135/180			chr22	TogoVar
CEP128_chr14_80491479_80946738	80729056	GGGGTGTG others(37): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	1	164	0.0061	-44	c.280 others(65): Show c.2806+13975_2806+14018delACACACACACACACACACACACAC ACACACACACACACACACCC		CEP128	ENSG00000100629.17	transcript	ENST00000555265.6	protein_coding	19/24						chr14	TogoVar
CEP72_chr5_607340_658553	650940	CTGTGAGG others(37): Show CTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGACTG	C C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0019 a0003c0005t0002g0019	1	91	0.0110	-44	c.177 others(63): Show c.1779-2045_1779-2002delTGAGGCGTGGACTGTGAGGCGTGGAC TGTGAGGCGTGGACTGTG		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CERS3_chr15_100395395_100533950	100467830	TATACGTG others(37): Show TATACGTGTATATATATATATATAGATAGATAGATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(113): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01261.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp2 HG02080.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0007 others(1): Show a0001c0001 a0001c0003 a0001c0007 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0018 a0001c0003t0002 a0001c0003t0010 a0001c0007t0002 a0004c0005t0002	a0001c0001t0001g0095 a0001c0001t0001g0129 a0001c0001t0001g0270 others(113): Show a0001c0001t0001g0095 a0001c0001t0001g0129 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0278 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0111 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0179 a0001c0001t0002g0204 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0004g0067 a0001c0001t0004g0290 a0001c0001t0018g0078 a0001c0001t0018g0091 a0001c0003t0002g0311 a0001c0003t0010g0340 a0001c0003t0010g0341 a0001c0003t0010g0342 a0001c0003t0010g0343 a0001c0003t0010g0344 a0001c0007t0002g0287 a0001c0007t0002g0295 a0004c0005t0002g0254 a0004c0005t0002g0262 a0004c0005t0002g0293	116	362	0.3204	-44	c.845 others(61): Show c.845+1504_845+1547delCTATCTATCTATCTATCTATCTATATAT ATATATATACACGTAT		CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11						chr15	TogoVar
CFAP141_chr1_154194085_154211333	154203172	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19240.hp2 HG02145.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0124 a0001c0001t0001g0054 a0001c0001t0001g0124	2	372	0.0054	-44	c.74+ others(59): Show c.74+2382_74+2425delATATATATATATATATATATATATATATAT ATATATATATATAT		CFAP141	ENSG00000163263.7	transcript	ENST00000368525.4	protein_coding	2/3						chr1	TogoVar
CFAP410_chr21_44323944_44344390	44338897	TCCGGCTC others(37): Show TCCGGCTCCGCCCTCTCCCCGCCCCGGCTCCGCCCTCTCCCCGCC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp1 HG02896.hp1 others(10): Show HG01167.hp1 HG02145.hp1 HG02896.hp1 NA18522.hp1 NA18906.hp1 NA18955.hp2 NA18960.hp1 NA18968.hp1 NA19011.hp1 NA19030.hp1 NA19057.hp1 NA19079.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0005 a0004c0006 a0001c0002 a0001c0005 a0004c0006	a0001c0002t0002 a0001c0005t0003 a0004c0006t0003 a0001c0002t0002 a0001c0005t0003 a0004c0006t0003	a0001c0002t0002g0234 a0001c0005t0003g0014 a0001c0005t0003g0037 others(4): Show a0001c0002t0002g0234 a0001c0005t0003g0014 a0001c0005t0003g0037 a0001c0005t0003g0038 a0001c0005t0003g0233 a0001c0005t0003g0235 a0004c0006t0003g0040	13	436	0.0298	-44	c.77+ others(57): Show c.77+177_77+220delGGCGGGGAGAGGGCGGAGCCGGGGCGGGGAGA GGGCGGAGCCGG		CFAP410	ENSG00000160226.16	transcript	ENST00000339818.9	protein_coding	1/6						chr21	TogoVar
CFAP54_chr12_96484577_96880555	96664733	ATATATCT others(37): Show ATATATCTATATATATATATATCTATATATATCTATATCTATATC	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0004 a0004	a0004c0082 a0004c0082	a0004c0082t0001 a0004c0082t0001	a0004c0082t0001g0167 a0004c0082t0001g0167	1	268	0.0037	-44	c.556 others(61): Show c.5563+807_5563+850delCTATATATATATATATCTATATATATCT ATATCTATATCTATAT		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67					INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104396396	GAGAGAGA others(37): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02109.hp1 HG02572.hp2 others(3): Show HG00323.hp1 HG02109.hp1 HG02572.hp2 HG02717.hp1 HG03209.hp1 HG03540.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0018 a0001c0001 a0008c0018	a0001c0001t0001 a0008c0018t0001 a0001c0001t0001 a0008c0018t0001	a0001c0001t0001g0003 a0001c0001t0001g0257 a0001c0001t0001g0258 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0008c0018t0001g0288	6	308	0.0195	-44	c.167 others(63): Show c.1674+2935_1675-2907delGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAAAGAGAGAGAGAGA		CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	11/17					INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP70_chr10_73248762_73363864	73284737	CACATATA others(37): Show CACATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	220	0.0046	-44	c.245 others(63): Show c.2450-6444_2450-6401delATATATATATATATATATATATATAT ATATATATATATATATGT		CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27						chr10	TogoVar
CFAP70_chr10_73248762_73363864	73284739	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03654.hp2 HG02818.hp1 HG03654.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0007 a0001c0001 a0008c0007	a0001c0001t0001 a0008c0007t0002 a0001c0001t0001 a0008c0007t0002	a0001c0001t0001g0159 a0008c0007t0002g0015 a0001c0001t0001g0159 a0008c0007t0002g0015	2	220	0.0091	-44	c.244 others(63): Show c.2449+6443_2450-6403delATATATATATATATATATATATATAT ATATATATATATATATAT		CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	20/27						chr10	TogoVar
CFI_chr4_109735695_109806999	109756888	GGAAAGAA others(37): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19087.hp2 NA18970.hp1 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0130 a0001c0002t0001g0052 a0001c0002t0001g0130	2	354	0.0057	-44	c.904 others(59): Show c.904+831_904+874delTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12						chr4	TogoVar
CHCHD6_chr3_126699240_126965420	126862175	CCTCCTCC others(37): Show CCTCCTCCTCCACCATCACAACCGCCTCCTCCACCATCATCACCA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	216	0.0046	-44	c.495 others(61): Show c.495+9447_495+9490delTCCTCCTCCACCATCACAACCGCCTCCT CCACCATCATCACCAC		CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD7_chr8_56206789_56223809	56220908	GTTATCTG others(37): Show GTTATCTGCTCTGGATTACAGCCATCCTAGTGGGTGTGAACTGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	384	0.0026	-44	c.34 others(55): Show c.3474_*3517delTTATCTGCTCTGGATTACAGCCATCCTAGTGGGT GTGAACTGGT		CHCHD7	ENSG00000170791.18	transcript	ENST00000355315.8	protein_coding					2100		chr8	TogoVar
CHD6_chr20_41397083_41623377	41421603	TCACATCA others(37): Show TCACATCAGGCAGGCTGAGATGATCATCTCTGCTTTCTACTCTCA	T T	frameshift_variant frameshift_variant	HIGH	NA19086.hp1 NA19086.hp1	a0019 a0019	a0019c0015 a0019c0015	a0019c0015t0007 a0019c0015t0007	a0019c0015t0007g0307 a0019c0015t0007g0307	1	324	0.0031	-44	c.498 others(53): Show c.4988_5031delTGAGAGTAGAAAGCAGAGATGATCATCTCAGCCTGC CTGATGTG	p.Val others(6): Show p.Val1663fs	CHD6	ENSG00000124177.16	transcript	ENST00000373233.8	protein_coding	31/37	5092/10719	4988/8148	1663/2715			chr20	TogoVar
CHMP1A_chr16_89639435_89662708	89655962	GCCCGGCC others(37): Show GCCCGGCCTCCCAGAGTGCTGGGGTTACAGGCCTGAGCCACCACA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19090.hp1 NA18990.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0137 a0001c0001t0001g0138	2	392	0.0051	-44	c.7+1 others(57): Show c.7+1576_7+1619delTGTGGTGGCTCAGGCCTGTAACCCCAGCACTC TGGGAGGCCGGG		CHMP1A	ENSG00000131165.16	transcript	ENST00000397901.8	protein_coding	1/6						chr16	TogoVar
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(37): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	254	0.0039	-44	c.131 others(63): Show c.131-13933_131-13890delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757490	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	254	0.0039	-44	c.131 others(63): Show c.131-13921_131-13878delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757498	GAAAGAAA others(37): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	254	0.0039	-44	c.131 others(63): Show c.131-13913_131-13870delAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAAAGAAAGAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHSY3_chr5_129899465_130191634	130143726	GTGTGTGT others(37): Show GTGTGTGTGTATATATATATATATATATATATGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG04199.hp2 NA18991.hp1 others(1): Show HG01496.hp2 HG04199.hp2 NA18991.hp1 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0001c0002t0014 a0003c0004t0004 a0001c0002t0001 a0001c0002t0014 a0003c0004t0004	a0001c0002t0001g0045 a0001c0002t0014g0021 a0003c0004t0004g0030 others(1): Show a0001c0002t0001g0045 a0001c0002t0014g0021 a0003c0004t0004g0030 a0003c0004t0004g0173	4	276	0.0145	-44	c.108 others(65): Show c.1087-40501_1087-40458delGTGTGTGTATATATATATATATAT ATATATGTGTGTGTGTGTAT		CHSY3	ENSG00000198108.4	transcript	ENST00000305031.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
CIRBP_chr19_1264332_1279810	1277293	TGAGATGG others(37): Show TGAGATGGTGTGCACCCTTCCCCAGCTCTGGGGCCTCGGTGGGCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	280	0.0036	-44	c.48 others(55): Show c.4851_*4894delGAGATGGTGTGCACCCTTCCCCAGCTCTGGGGCC TCGGTGGGCA		CIRBP	ENSG00000099622.14	transcript	ENST00000587896.6	protein_coding					2484		chr19	TogoVar
CLCN2_chr3_184341185_184366605	184361866	GGCCGGCC others(37): Show GGCCGGCCCGGGTTCGCGGTTCCCCGTGCCCAGGCAGGAGGGGCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	460	0.0022	-44	c.-43 others(53): Show c.-431_-388delAGCCCCTCCTGCCTGGGCACGGGGAACCGCGAACCC GGGCCGGC		CLCN2	ENSG00000114859.16	transcript	ENST00000265593.9	protein_coding					262		chr3	TogoVar
CLDN34_chrX_9962358_9973352	9964279	CCCTTCCT others(37): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG02055.hp1 others(7): Show HG01074.hp1 HG01106.hp1 HG02055.hp1 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG03139.hp1 NA19043.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0004 a0001c0003 a0002c0004	a0001c0003t0001 a0002c0004t0002 a0001c0003t0001 a0002c0004t0002	a0001c0003t0001g0000 a0002c0004t0002g0000 a0001c0003t0001g0000 a0002c0004t0002g0000	10	330	0.0303	-44	c.-30 others(55): Show c.-3078_-3035delCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT		CLDN34	ENSG00000234469.4	transcript	ENST00000445307.4	protein_coding					3078		chrX	TogoVar
CLIC5_chr6_45893456_46020860	46006093	CATATATA others(37): Show CATATATATATATATATATACACATGTATAAATACATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp1 HG03139.hp2 others(2): Show HG02809.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0001t0030	a0001c0001t0001g0071 a0001c0001t0001g0326 a0001c0001t0003g0044 others(2): Show a0001c0001t0001g0071 a0001c0001t0001g0326 a0001c0001t0003g0044 a0001c0001t0023g0028 a0001c0001t0030g0029	5	340	0.0147	-44	c.63+ others(59): Show c.63+9343_63+9386delATATATATATGTATTTATACATGTGTATAT ATATATATATATAT		CLIC5	ENSG00000112782.19	transcript	ENST00000339561.12	protein_coding	1/5						chr6	TogoVar
CLMN_chr14_95176940_95324908	95245194	AATATATA others(37): Show AATATATATATATATTATATATATATATATATTATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18906.hp1 NA19030.hp1 HG02886.hp1 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0040 a0001c0001t0001 a0001c0001t0005 a0001c0001t0040	a0001c0001t0001g0155 a0001c0001t0005g0170 a0001c0001t0040g0055 a0001c0001t0001g0155 a0001c0001t0005g0170 a0001c0001t0040g0055	3	276	0.0109	-44	c.83- others(61): Show c.83-15105_83-15062delATATATATATATAATATATATATATATA TAATATATATATATAT		CLMN	ENSG00000165959.12	transcript	ENST00000298912.9	protein_coding	1/12						chr14	TogoVar
CLN8_chr8_1758789_1791570	1763554	CCCGCCCC others(37): Show CCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0048 a0001c0001t0048	a0001c0001t0048g0175 a0001c0001t0048g0175	1	413	0.0024	-44	c.-45 others(53): Show c.-454_-411delCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCC GCCCCCCG		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					234		chr8	TogoVar
CLN8_chr8_1758789_1791570	1763559	CCCCCGCC others(37): Show CCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCCCCGCCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0054 a0001c0001t0014g0161 a0001c0001t0014g0054 a0001c0001t0014g0161	2	413	0.0048	-44	c.-44 others(53): Show c.-449_-406delCCCCGCCGCGCCCCGCCCCCCGCCGCGCCCCGCCCC CCGCCGCG		CLN8	ENSG00000182372.10	transcript	ENST00000331222.6	protein_coding					229		chr8	TogoVar
CLPB_chr11_72280495_72439531	72297636	GGTGTGTG others(37): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp1 HG03139.hp1 HG02055.hp1 HG02809.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034	a0001c0001t0032g0020 a0001c0001t0033g0021 a0001c0001t0034g0022 a0001c0001t0032g0020 a0001c0001t0033g0021 a0001c0001t0034g0022	3	206	0.0146	-44	c.142 others(63): Show c.1420-2032_1420-1989delACACACACACACACACACACACACAC ACACACACACACACACAC		CLPB	ENSG00000162129.15	transcript	ENST00000294053.9	protein_coding	12/16						chr11	TogoVar
CMKLR2_chr2_206170316_206218371	206172629	CGGGAGAG others(37): Show CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01099.hp1 others(23): Show HG00738.hp1 HG00741.hp1 HG01099.hp1 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01361.hp1 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG03225.hp1 HG03927.hp1 HG04228.hp2 NA21309.hp2	a0002 a0007 a0002 a0007	a0002c0003 a0007c0010 a0002c0003 a0007c0010	a0002c0003t0003 a0007c0010t0003 a0002c0003t0003 a0007c0010t0003	a0002c0003t0003g0001 a0002c0003t0003g0010 a0002c0003t0003g0034 others(20): Show a0002c0003t0003g0001 a0002c0003t0003g0010 a0002c0003t0003g0034 a0002c0003t0003g0035 a0002c0003t0003g0153 a0002c0003t0003g0232 a0002c0003t0003g0236 a0002c0003t0003g0237 a0002c0003t0003g0238 a0002c0003t0003g0239 a0002c0003t0003g0240 a0002c0003t0003g0241 a0002c0003t0003g0242 a0002c0003t0003g0244 a0002c0003t0003g0245 a0002c0003t0003g0246 a0002c0003t0003g0247 a0002c0003t0003g0249 a0002c0003t0003g0250 a0002c0003t0003g0275 a0002c0003t0003g0276 a0002c0003t0003g0302 a0007c0010t0003g0243	26	322	0.0808	-44	c.35 others(55): Show c.3507_*3550delTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2686		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172754	AGGGAGAC others(37): Show AGGGAGACGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01981.hp1 HG04184.hp2 others(2): Show HG01106.hp2 HG01981.hp1 HG04184.hp2 NA19009.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0230 others(2): Show a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0230 a0002c0004t0001g0115 a0002c0004t0001g0147	5	322	0.0155	-44	c.33 others(55): Show c.3382_*3425delGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCGTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2561		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172767	AGGGAGAG others(37): Show AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0137 a0002c0002t0001g0137	1	322	0.0031	-44	c.33 others(55): Show c.3369_*3412delCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTC TCCCTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2548		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172923	AGGGAGAG others(37): Show AGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGAGGGAGAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	322	0.0031	-44	c.32 others(55): Show c.3213_*3256delGTCTCCCTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2392		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206173088	CGGGAGAG others(37): Show CGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0035 a0002c0003t0003g0035	1	322	0.0031	-44	c.30 others(55): Show c.3048_*3091delTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCC		CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding					2227		chr2	TogoVar
CMSS1_chr3_99812862_100186732	99983432	GTATATAT others(37): Show GTATATATATGTATGTATATATATATATGTGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0029	1	232	0.0043	-44	c.65- others(63): Show c.65-163531_65-163488delGTATGTATATATATATATGTGTGTAT ATATATATATATATATAT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CMSS1_chr3_99812862_100186732	99983446	GTATATAT others(37): Show GTATATATATATATGTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01168.hp1 HG01168.hp2 others(45): Show HG01069.hp1 HG01168.hp1 HG01168.hp2 HG01257.hp2 HG01346.hp1 HG01516.hp1 HG01891.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp2 HG02055.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02922.hp2 HG02976.hp2 HG03225.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA19056.hp2 NA19066.hp1 NA19066.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012	a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0021 others(45): Show a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0070 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0002g0013 a0001c0001t0002g0085 a0001c0001t0004g0011 a0001c0001t0004g0014 a0001c0001t0004g0019 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0005g0177 a0001c0001t0005g0178 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0011g0169 a0001c0001t0012g0036	48	232	0.2069	-44	c.65- others(63): Show c.65-163513_65-163470delGTGTGTATATATATATATATATATAT ATATATATATATATATAT		CMSS1	ENSG00000184220.12	transcript	ENST00000421999.8	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
CNBP_chr3_129162827_129188896	129172632	GCAGGCAG others(37): Show GCAGGCAGGCAGGCAGGCAGGCAGGCAGACAGACAGACAGACAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0345 a0001c0002t0005g0345	1	430	0.0023	-44	c.-14 others(59): Show c.-14-905_-14-862delTCTGTCTGTCTGTCTGTCTGCCTGCCTGCC TGCCTGCCTGCCTG		CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4						chr3	TogoVar
CNOT6_chr5_180489379_180583358	180539551	CTTTTTTT others(37): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01358.hp1 others(1): Show HG00099.hp1 HG00738.hp1 HG01358.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0004 a0001c0001t0018g0005 a0001c0001t0018g0006 others(1): Show a0001c0001t0018g0004 a0001c0001t0018g0005 a0001c0001t0018g0006 a0001c0001t0018g0007	4	334	0.0120	-44	c.112 others(63): Show c.112+10176_112+10219delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT		CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CNTN5_chr11_99015949_100363885	99598285	TTTTCTTT others(37): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0013 a0005c0004t0013	a0005c0004t0013g0050 a0005c0004t0013g0050	1	66	0.0152	-44	c.55+ others(61): Show c.55+42017_55+42060delTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTGTCC		CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24						chr11	TogoVar

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