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
CCNB1IP1_chr14_20306370_20338279	20310304	A A	AGTCAGCC others(42): Show AGTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02451.hp2 others(5): Show HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03139.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0196 others(4): Show a0001c0001t0001g0012 a0001c0001t0001g0039 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0220 a0001c0001t0001g0296	8	418	0.0191	49	c.12 others(60): Show c.1245_*1246insCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCC GGGCGGGGGGCTGAC		CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding					1065		chr14	TogoVar
CCNB1IP1_chr14_20306370_20338279	20310574	A A	AGCCAGCC others(42): Show AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01255.hp2 HG02559.hp2 others(3): Show HG01081.hp2 HG01255.hp2 HG02559.hp2 HG02572.hp1 HG03041.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0200 others(3): Show a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0200 a0001c0001t0001g0218 a0001c0001t0001g0243 a0001c0001t0004g0166	6	418	0.0144	49	c.97 others(58): Show c.975_*976insCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGC		CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding					795		chr14	TogoVar
CCNB1IP1_chr14_20306370_20338279	20310609	C C	CCAGCCCC others(42): Show CCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0299 a0001c0001t0007g0299	1	418	0.0024	49	c.94 others(58): Show c.940_*941insACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTG		CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding					760		chr14	TogoVar
CCNB1IP1_chr14_20306370_20338279	20310619	G G	GCCCGGCC others(42): Show GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02723.hp1 HG02922.hp2 others(1): Show HG02257.hp1 HG02723.hp1 HG02922.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0133 a0001c0001t0001g0149 a0001c0001t0001g0030 a0001c0001t0001g0133 a0001c0001t0001g0149	4	418	0.0096	49	c.93 others(58): Show c.930_*931insTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGG		CCNB1IP1	ENSG00000100814.19	transcript	ENST00000358932.9	protein_coding					750		chr14	TogoVar
CCNB1_chr5_69162150_69183245	69164026	A A	AAAAAAAA others(42): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	420	0.0024	49	c.-32 others(60): Show c.-3237_-3236insAAAAAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATAT		CCNB1	ENSG00000134057.15	transcript	ENST00000256442.10	protein_coding					3123		chr5	TogoVar
CCS_chr11_66588185_66611019	66588325	A A	ACCCCGTC others(42): Show ACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	404	0.0025	49	c.-49 others(60): Show c.-4937_-4936insCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCG		CCS	ENSG00000173992.9	transcript	ENST00000533244.6	protein_coding					4859		chr11	TogoVar
CD247_chr1_167425640_167523529	167434947	C C	CTCCTCCA others(42): Show CTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18947.hp1 NA18990.hp2 others(1): Show HG00609.hp1 NA18947.hp1 NA18990.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0333 a0001c0001t0002g0183 a0001c0001t0002g0197 others(1): Show a0001c0001t0001g0333 a0001c0001t0002g0183 a0001c0001t0002g0197 a0001c0001t0002g0233	4	374	0.0107	49	c.336 others(64): Show c.336+451_336+452insAGGGCTGGAGGAGGGCTCCGGAGGAAGGGC TGGAGGAAGGGCTGGAGGA		CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7						chr1	TogoVar
CD247_chr1_167425640_167523529	167483015	T T	TCTTTCTT others(42): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	374	0.0027	49	c.58+ others(66): Show c.58+35392_58+35393insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAG		CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	1/7						chr1	TogoVar
CD8B_chr2_86833167_86866886	86833545	T T	TCCATCCT others(42): Show TCCATCCTCGCTCTCCTCCCCTCCCCTAGCCGCTCTCTCCCCTCCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	392	0.0026	49	c.87 others(60): Show c.8761_*8762insGAGGGGGAGGGGAGAGAGCGGCTAGGGGAGGGGA GGAGAGCGAGGATGG		CD8B	ENSG00000172116.23	transcript	ENST00000390655.12	protein_coding					4621		chr2	TogoVar
CDC14A_chr1_100347506_100525277	100412723	T T	TATATATA others(42): Show TATATATATATATATATATATATATATATATATTTATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0237 a0001c0003t0005g0237	1	306	0.0033	49	c.310 others(68): Show c.310-11499_310-11498insATATATATATATATATATATATATAT ATATATTTATATATATATATATA		CDC14A	ENSG00000079335.20	transcript	ENST00000336454.5	protein_coding	4/15						chr1	TogoVar
CDH12_chr5_21745673_22858344	21833307	G G	GTTATATA others(42): Show GTTATATAACATATAATATATATTATATGTTATATAACATATAATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0049 a0001c0001t0013g0049	1	60	0.0167	49	c.814 others(66): Show c.814+8853_814+8854insTATATATTATATGTTATATAACATATAA TATATATTATATGTTATATAA		CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	8/14						chr5	TogoVar
CDH4_chr20_61247261_61945617	61647536	T T	TCTCTCTC others(42): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG04204.hp2 HG02723.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0009 a0001c0006 a0002c0009	a0001c0006t0006 a0002c0009t0034 a0001c0006t0006 a0002c0009t0034	a0001c0006t0006g0029 a0002c0009t0034g0009 a0001c0006t0006g0029 a0002c0009t0034g0009	2	106	0.0189	49	c.170 others(68): Show c.170-96024_170-96023insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCCTC		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH5_chr16_66361691_66409784	66405636	A A	ATCCCAAC others(42): Show ATCCCAACACTTTAGGAGGCTGAGGAGGGAGGATTGCTTGAATATAGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0015 a0001c0007t0015	a0001c0007t0015g0060 a0001c0007t0015g0060	1	404	0.0025	49	c.24 others(60): Show c.2467_*2468insTCCCAACACTTTAGGAGGCTGAGGAGGGAGGATT GCTTGAATATAGGAG		CDH5	ENSG00000179776.20	transcript	ENST00000341529.8	protein_coding					853		chr16	TogoVar
CDH7_chr18_65746012_65895337	65782107	C C	CTTCCTTC others(42): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0052 a0002c0002t0052	a0002c0002t0052g0083 a0002c0002t0052g0083	1	208	0.0048	49	c.210 others(68): Show c.210+19058_210+19059insCTTCCTTCCTTCCTTCCTTCCTTCCT TTCTTTCTTTCTTTCTTTCTTTC		CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
CDIN1_chr15_36574626_36815244	36703219	A A	AATATATA others(42): Show AATATATATATATATATATATATATATATATATATATCAGATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0081 a0002c0002t0009g0081	1	238	0.0042	49	c.544 others(66): Show c.544+5843_544+5844insATATATATATATATATATATATCAGATA TATATATATATATATATATAT		CDIN1	ENSG00000186073.14	transcript	ENST00000566621.6	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
CDK14_chr7_90591321_91215590	90744645	C C	CCCCCCAC others(42): Show CCCCCCACCTCCCTGCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG02257.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0021 a0001c0001t0006 a0001c0002t0021	a0001c0001t0006g0107 a0001c0002t0021g0108 a0001c0001t0006g0107 a0001c0002t0021g0108	2	168	0.0119	49	c.370 others(66): Show c.370-3023_370-3022insGCCGGACGGGGCGGCTGGCCGGGCGGGG GGCTGACGCCCCCACCTCCCT		CDK14	ENSG00000058091.17	transcript	ENST00000380050.8	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
CDKN2A_chr9_21962752_21979857	21971575	A A	ATTTTTTT others(42): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	416	0.0024	49	c.151 others(64): Show c.151-368_151-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA		CDKN2A	ENSG00000147889.18	transcript	ENST00000304494.10	protein_coding	1/2						chr9	TogoVar
CDKN2A_chr9_21962752_21999392	21971575	A A	ATTTTTTT others(42): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0298 a0001c0001t0002g0298	1	404	0.0025	49	c.194 others(64): Show c.194-368_194-367insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA		CDKN2A	ENSG00000147889.18	transcript	ENST00000579755.2	protein_coding	1/2						chr9	TogoVar
CELA3B_chr1_21972022_21994354	21986810	G G	GGGGACGA others(42): Show GGGGACGAGGGCCTGAAAGGATCCTAGAAGCTCAGTGGGGAAGGGCCCTT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0152 a0002c0006t0001g0152	1	444	0.0023	49	c.795 others(64): Show c.795+132_795+133insGAGGGCCTGAAAGGATCCTAGAAGCTCAGT GGGGAAGGGCCCTTGGGAC		CELA3B	ENSG00000219073.8	transcript	ENST00000337107.11	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr1	TogoVar
CELF2_chr10_11012872_11341675	11197025	A A	AAAGAAAG others(42): Show AAAGAAAGAAAGAAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0004 a0001c0001t0017g0004	1	194	0.0052	49	c.272 others(68): Show c.272-20398_272-20397insGAAAGAAAGAAAAGAAAGAAAAGAAA GAAAGAAAGAAAGAAAGAAAGAA		CELF2	ENSG00000048740.19	transcript	ENST00000633077.2	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CEP104_chr1_3807086_3862211	3820494	C C	CGCCTCTG others(42): Show CGCCTCTGTCTGGGGTGGAGGAAGGCAAATGGAAGCGGGGCAGGACGGCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00735.hp2 others(24): Show HG00323.hp1 HG00639.hp1 HG00735.hp2 HG01069.hp2 HG01099.hp2 HG01109.hp2 HG01255.hp2 HG01256.hp2 HG01517.hp1 HG02004.hp1 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp1 HG02738.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp2 HG03831.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0023 a0001c0001 a0017c0023	a0001c0001t0004 a0001c0001t0026 a0017c0023t0004 a0001c0001t0004 a0001c0001t0026 a0017c0023t0004	a0001c0001t0004g0002 a0001c0001t0004g0142 a0001c0001t0004g0143 others(19): Show a0001c0001t0004g0002 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0151 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0001t0004g0164 a0001c0001t0026g0154 a0017c0023t0004g0150	27	382	0.0707	49	c.257 others(68): Show c.2571+2679_2571+2680insCGCCGTCCTGCCCCGCTTCCATTTGC CTTCCTCCACCCCAGACAGAGGC		CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	20/21						chr1	TogoVar
CEP104_chr1_3807086_3862211	3820494	C C	CGCCTCTG others(42): Show CGCCTCTGTCTGGGGTGGAGGAAGGCAGATGGAAGCGGGGCAGGACGGCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(196): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(10): Show a0001 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0006 a0003c0003 others(12): Show a0001c0001 a0001c0006 a0003c0003 a0003c0004 a0004c0007 a0005c0009 a0007c0020 a0008c0018 a0009c0022 a0010c0019 a0012c0014 a0013c0017 a0014c0021 a0015c0010 a0016c0016	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(34): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0006t0006 a0003c0003t0002 a0003c0003t0012 a0003c0003t0014 a0003c0003t0016 a0003c0003t0017 a0003c0003t0018 a0003c0003t0019 a0003c0003t0029 a0003c0003t0030 a0003c0004t0002 a0003c0004t0017 a0004c0007t0009 a0005c0009t0002 a0007c0020t0003 a0008c0018t0003 a0009c0022t0034 a0010c0019t0032 a0012c0014t0002 a0013c0017t0010 a0014c0021t0012 a0015c0010t0006 a0016c0016t0019	a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0026 others(163): Show a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0030 a0001c0001t0003g0237 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0258 a0001c0001t0003g0263 a0001c0001t0003g0264 a0001c0001t0003g0267 a0001c0001t0003g0271 a0001c0001t0003g0276 a0001c0001t0003g0277 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0314 a0001c0001t0004g0141 a0001c0001t0007g0014 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0007g0275 a0001c0001t0007g0283 a0001c0001t0007g0284 a0001c0001t0007g0285 a0001c0001t0008g0013 a0001c0001t0008g0024 a0001c0001t0008g0248 a0001c0001t0008g0261 a0001c0001t0008g0262 a0001c0001t0008g0270 a0001c0001t0009g0239 a0001c0001t0009g0240 a0001c0001t0009g0242 a0001c0001t0009g0243 a0001c0001t0009g0259 a0001c0001t0009g0268 a0001c0001t0010g0235 a0001c0001t0010g0244 a0001c0001t0010g0246 a0001c0001t0010g0247 a0001c0001t0010g0249 a0001c0001t0010g0260 a0001c0001t0013g0031 a0001c0001t0013g0032 a0001c0001t0027g0145 a0001c0001t0028g0161 a0001c0001t0033g0274 a0001c0001t0035g0266 a0001c0001t0036g0305 a0001c0001t0037g0312 a0001c0001t0039g0238 a0001c0006t0006g0124 a0001c0006t0006g0126 a0001c0006t0006g0127 a0001c0006t0006g0128 a0001c0006t0006g0129 a0001c0006t0006g0130 a0001c0006t0006g0131 a0001c0006t0006g0132 a0001c0006t0006g0133 a0003c0003t0002g0003 a0003c0003t0002g0004 a0003c0003t0002g0011 a0003c0003t0002g0021 a0003c0003t0002g0022 a0003c0003t0002g0023 a0003c0003t0002g0165 a0003c0003t0002g0166 a0003c0003t0002g0169 a0003c0003t0002g0170 a0003c0003t0002g0171 a0003c0003t0002g0172 a0003c0003t0002g0173 a0003c0003t0002g0174 a0003c0003t0002g0176 a0003c0003t0002g0179 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0002g0182 a0003c0003t0002g0184 a0003c0003t0002g0185 a0003c0003t0002g0186 a0003c0003t0002g0187 a0003c0003t0002g0188 a0003c0003t0002g0189 a0003c0003t0002g0192 a0003c0003t0002g0193 a0003c0003t0002g0195 a0003c0003t0002g0196 a0003c0003t0002g0200 a0003c0003t0002g0203 a0003c0003t0002g0205 a0003c0003t0002g0206 a0003c0003t0002g0207 a0003c0003t0002g0212 a0003c0003t0002g0213 a0003c0003t0002g0216 a0003c0003t0002g0217 a0003c0003t0002g0218 a0003c0003t0002g0220 a0003c0003t0002g0221 a0003c0003t0002g0222 a0003c0003t0002g0223 a0003c0003t0002g0224 a0003c0003t0002g0225 a0003c0003t0002g0227 a0003c0003t0002g0228 a0003c0003t0002g0232 a0003c0003t0002g0233 a0003c0003t0012g0289 a0003c0003t0012g0290 a0003c0003t0014g0137 a0003c0003t0014g0138 a0003c0003t0016g0230 a0003c0003t0016g0231 a0003c0003t0017g0208 a0003c0003t0018g0204 a0003c0003t0018g0215 a0003c0003t0019g0211 a0003c0003t0029g0209 a0003c0003t0030g0202 a0003c0004t0002g0008 a0003c0004t0002g0012 a0003c0004t0002g0168 a0003c0004t0002g0175 a0003c0004t0002g0178 a0003c0004t0002g0190 a0003c0004t0002g0191 a0003c0004t0002g0197 a0003c0004t0002g0198 a0003c0004t0002g0199 a0003c0004t0002g0201 a0003c0004t0002g0214 a0003c0004t0002g0226 a0003c0004t0002g0229 a0003c0004t0017g0167 a0004c0007t0009g0241 a0004c0007t0009g0245 a0004c0007t0009g0250 a0005c0009t0002g0177 a0005c0009t0002g0194 a0007c0020t0003g0313 a0008c0018t0003g0265 a0009c0022t0034g0269 a0010c0019t0032g0234 a0012c0014t0002g0183 a0013c0017t0010g0236 a0014c0021t0012g0255 a0015c0010t0006g0125 a0016c0016t0019g0210	199	382	0.5209	49	c.257 others(68): Show c.2571+2679_2571+2680insCGCCGTCCTGCCCCGCTTCCATCTGC CTTCCTCCACCCCAGACAGAGGC		CEP104	ENSG00000116198.14	transcript	ENST00000378230.8	protein_coding	20/21						chr1	TogoVar
CEP72_chr5_607340_658553	650984	G G	GTGAGGTG others(42): Show GTGAGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGAC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	91	0.0110	49	c.177 others(68): Show c.1779-1985_1779-1984insATGGACTGTGAGGTGTGACTGAGGTG TGACTGAGGTGTGACTGTGAGGC		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
CERS3_chr15_100395395_100533950	100466829	C C	CTCTTTCT others(42): Show CTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	362	0.0028	49	c.845 others(66): Show c.845+2548_845+2549insAGAGAGAGAGAGAGAGAGAGAAAGAGAG AAAGAGAGAAAGAGAGAAAGA		CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11						chr15	TogoVar
CERS3_chr15_100395395_100533950	100466831	C C	CTTTCTCT others(42): Show CTTTCTCTCTTTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0091 a0001c0001t0018g0091	1	362	0.0028	49	c.845 others(66): Show c.845+2546_845+2547insAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAAAGAGAGAAAGAGAGAAA		CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11						chr15	TogoVar
CERS3_chr15_100395395_100533950	100466831	C C	CTTTCTCT others(42): Show CTTTCTCTCTTTCTCTCTTTCTCTCTTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0277 a0001c0001t0002g0277	1	362	0.0028	49	c.845 others(66): Show c.845+2546_845+2547insAAGAGAGAGAGAGAGAGAGAGAGAAGAG AGAAAGAGAGAAAGAGAGAAA		CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11						chr15	TogoVar
CERS3_chr15_100395395_100533950	100466833	C C	CTTCTCTC others(42): Show CTTCTCTCTTTCTCCTCTTTCTCTCTTCTCTCTCTCTCTCTCTCTCTCTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	362	0.0028	49	c.845 others(66): Show c.845+2544_845+2545insAAGAGAGAGAGAGAGAGAGAGAGAAGAG AGAAAGAGGAGAAAGAGAGAA		CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11						chr15	TogoVar
CERS3_chr15_100395395_100533950	100466839	C C	CTTTCTCT others(42): Show CTTTCTCTCTTTCTCTCTTTCTCTCTCTCTCTCTCTCTCTCTTTCTCTCT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	362	0.0028	49	c.845 others(66): Show c.845+2538_845+2539insAGAGAGAAAGAGAGAGAGAGAGAGAGAG AGAAAGAGAGAAAGAGAGAAA		CERS3	ENSG00000154227.14	transcript	ENST00000679737.1	protein_coding	10/11						chr15	TogoVar
CERS6_chr2_168451272_168780134	168631830	A A	ATATATTT others(42): Show ATATATTTTATATTATATAATATATTTATTATATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18945.hp1 NA18949.hp2 others(7): Show HG02071.hp2 NA18945.hp1 NA18949.hp2 NA18954.hp2 NA18957.hp1 NA18968.hp2 NA18984.hp2 NA18998.hp1 NA19009.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0035 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0035 a0001c0001t0036	a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0002g0001 others(7): Show a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0002g0001 a0001c0001t0002g0057 a0001c0001t0002g0091 a0001c0001t0002g0131 a0001c0001t0002g0145 a0001c0001t0002g0151 a0001c0001t0035g0156 a0001c0001t0036g0149	10	176	0.0568	49	c.465 others(64): Show c.465+793_465+794insTTTATATTATATAATATATTTATTATATAA TATATATTATATATTATAT		CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP299_chr4_80330730_80968750	80799332	A A	AATATTTA others(42): Show AATATTTATATATAAATATATTTATATAATATATATATAAATATATTTAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0050 a0001c0004t0001g0050	1	96	0.0104	49	c.334 others(68): Show c.334-70648_334-70647insAATATATTTATATAATATATATATAA ATATATTTATATATTTATATATA		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP43_chr10_104124888_104237364	104233312	A A	AGGGGGGG others(42): Show AGGGGGGGGGGGGGGGAGGGAGACGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0092 a0002c0002t0001g0092	1	306	0.0033	49	c.-10 others(60): Show c.-1067_-1066insCCCCCCCCCCCCCCCCCCCCCCCCCCGTCTCCCT CCCCCCCCCCCCCCC		CFAP43	ENSG00000197748.13	transcript	ENST00000357060.8	protein_coding					949		chr10	TogoVar
CFAP46_chr10_132803392_132947570	132906684	C C	CGGGGTCC others(42): Show CGGGGTCCTGGCGCGTGATGCCCCGTCCTGGGCACTGAGAAGAGTGAACG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0022 a0022	a0022c0078 a0022c0078	a0022c0078t0002 a0022c0078t0002	a0022c0078t0002g0033 a0022c0078t0002g0033	1	246	0.0041	49	c.292 others(68): Show c.2924+1735_2924+1783dupCGTTCACTCTTCTCAGTGCCCAGGAC GGGGCATCACGCGCCAGGACCCC		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	22/57						chr10	TogoVar
CFAP61_chr20_20047532_20365698	20296326	C C	CCCTTCCT others(42): Show CCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCTTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0003 a0002c0009t0002 a0002c0009t0003	a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107 a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0009t0003g0107	3	236	0.0127	49	c.321 others(68): Show c.3217-1839_3217-1838insCCTTCCCTCCTTCCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCTT		CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP95_chr9_69815817_69911227	69901527	T T	TTTTATGG others(42): Show TTTTATGGCTGCATAGTGTTCCACGGTGTATATGCGCCACATTTTCTTAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	380	0.0026	49	c.508 others(66): Show c.508-4425_508-4377dupTTATGGCTGCATAGTGTTCCACGGTGTA TATGCGCCACATTTTCTTAAT		CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr9	TogoVar
CFI_chr4_109735695_109806999	109753174	A A	AATATATA others(42): Show AATATATATTTATTATATAAATAAATATTATATAAATAAATATTTATAAC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	354	0.0028	49	c.905 others(64): Show c.905-672_905-671insGTTATAAATATTTATTTATATAATATTTAT TTATATAATAAATATATAT		CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12						chr4	TogoVar
CHCHD3_chr7_132779870_133087090	132983985	C C	CTCTCCCT others(42): Show CTCTCCCTCTCCCCCCTCTCCCTCTCCCCACGGTCTCCCTCTCCCCACGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03540.hp1 HG02976.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0136 a0001c0001t0001g0137	2	310	0.0065	49	c.252 others(66): Show c.252-8700_252-8699insCCGTGGGGAGAGGGAGACCGTGGGGAGA GGGAGAGGGGGGAGAGGGAGA		CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	3/7						chr7	TogoVar
CHRNA4_chr20_63338223_63366349	63364798	C C	CCCCCGCC others(42): Show CCCCCGCCCCCCACCCTGGGGGACACAACCAGGCCCTTGCAGACACCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01255.hp1 HG01934.hp1 others(4): Show HG01106.hp1 HG01255.hp1 HG01934.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0013 a0001c0001 a0001c0011 a0001c0013	a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 others(2): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0011t0006 a0001c0013t0012	a0001c0001t0006g0077 a0001c0001t0006g0100 a0001c0001t0006g0101 others(4): Show a0001c0001t0006g0077 a0001c0001t0006g0100 a0001c0001t0006g0101 a0001c0001t0012g0043 a0001c0001t0017g0015 a0001c0011t0006g0073 a0001c0013t0012g0078	7	168	0.0417	49	c.-36 others(60): Show c.-3634_-3633insCCTGGTGTCTGCAAGGGCCTGGTTGTGTCCCCCA GGGTGGGGGGCGGGG		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding					3450		chr20	TogoVar
CIAPIN1_chr16_57423187_57452385	57431202	A A	AGGGGGGG others(42): Show AGGGGGGGGGGGGGGGGGGGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGG	frameshift_variant frameshift_variant	HIGH	NA19000.hp1 NA19000.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0172 a0005c0009t0001g0172	1	390	0.0026	49	c.694 others(56): Show c.694_695insCCCCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCC CCCCCCCCCCC	p.Leu others(5): Show p.Leu232fs	CIAPIN1	ENSG00000005194.15	transcript	ENST00000394391.9	protein_coding	7/9	793/2021	694/939	232/312			chr16	TogoVar
CIR1_chr2_174343022_174400712	174354495	A A	AATTATAT others(42): Show AATTATATTATATATATCATATAATATATTTTATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	348	0.0029	49	c.485 others(66): Show c.485-2819_485-2771dupATATATTATATAATATATAAAATATATT ATATGATATATATAATATAAT		CIR1	ENSG00000138433.16	transcript	ENST00000342016.8	protein_coding	7/9						chr2	TogoVar
CLDN4_chr7_73825996_73837690	73836062	A A	ACCCCATC others(42): Show ACCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCCACCAGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG02738.hp1 HG03239.hp2 others(1): Show HG00140.hp2 HG02738.hp1 HG03239.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0000 a0001c0001t0009g0000 a0001c0001t0001g0000 a0001c0001t0009g0000	4	372	0.0108	49	c.42 others(60): Show c.4231_*4232insCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCCACCAGCCG		CLDN4	ENSG00000189143.10	transcript	ENST00000340958.4	protein_coding					3373		chr7	TogoVar
CLDN8_chr21_30209006_30221097	30210290	T T	TATATATA others(42): Show TATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	466	0.0022	49	c.49 others(60): Show c.4957_*4958insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3715		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210422	T T	TATATATA others(42): Show TATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0004 a0005c0004t0004	a0005c0004t0004g0000 a0005c0004t0004g0000	3	466	0.0064	49	c.48 others(60): Show c.4825_*4826insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3583		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210469	T T	TATATATA others(42): Show TATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGGTAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	466	0.0022	49	c.47 others(60): Show c.4778_*4779insGTACCTTGAATTAGAATTAGGGAGACTATATATA TATATATATATATAT		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3536		chr21	TogoVar
CLDN8_chr21_30209006_30221097	30210574	A A	ATATATAT others(42): Show ATATATATATATATATATATATATATAGTCTCCCTAATTCTAATTCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	466	0.0022	49	c.46 others(60): Show c.4673_*4674insCCTTGAATTAGAATTAGGGAGACTATATATATAT ATATATATATATATA		CLDN8	ENSG00000156284.6	transcript	ENST00000399899.2	protein_coding					3431		chr21	TogoVar
CLEC4G_chr19_7723957_7737110	7733923	C C	CAGTGAGC others(42): Show CAGTGAGCTGTAATTGTGCCCGCTGCACTCCAGCCTGTGACAGAGTGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 NA18960.hp1 HG02135.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	432	0.0046	49	c.-18 others(60): Show c.-1822_-1821insTCTCACTCTGTCACAGGCTGGAGTGCAGCGGGCA CAATTACAGCTCACT		CLEC4G	ENSG00000182566.15	transcript	ENST00000328853.11	protein_coding					1814		chr19	TogoVar
CLIC4_chr1_24740447_24849321	24833685	T T	TGGGCGGC others(42): Show TGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01243.hp2 HG02559.hp1 others(9): Show HG01099.hp2 HG01243.hp2 HG02559.hp1 HG02572.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03471.hp1 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0004 a0001c0001t0007	a0001c0001t0004g0328 a0001c0001t0004g0330 a0001c0001t0004g0331 others(9): Show a0001c0001t0004g0328 a0001c0001t0004g0330 a0001c0001t0004g0331 a0001c0001t0004g0332 a0001c0001t0004g0333 a0001c0001t0004g0334 a0001c0001t0004g0336 a0001c0001t0004g0339 a0001c0001t0007g0329 a0001c0001t0007g0335 a0001c0001t0007g0337 a0001c0001t0007g0338	12	344	0.0349	49	c.416 others(66): Show c.416-6153_416-6152insCTGACCCCCCCACCTCCCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGG		CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIP1_chr12_122266469_122427669	122357789	T T	TAGCCGCC others(42): Show TAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCGCCACCCGGCC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	234	0.0043	49	c.100 others(68): Show c.1006-2478_1006-2477insGGCCGGGTGGCGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCT		CLIP1	ENSG00000130779.22	transcript	ENST00000620786.5	protein_coding	5/25						chr12	TogoVar
CLUH_chr17_2684387_2716764	2691956	G G	GCCCCCGC others(42): Show GCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGCCCCCGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	420	0.0024	49	c.365 others(64): Show c.3654+47_3654+48insGCGGGGGCGGGGGCGGGGGCGGGGGCGGGG GCGGGGGCGGGGGCGGGGG		CLUH	ENSG00000132361.18	transcript	ENST00000651024.2	protein_coding	23/25						chr17	TogoVar
CLUL1_chr18_591988_655182	627030	A A	AGAAAGAA others(42): Show AGAAAGAAAGAAAGAGAGAAAGAAGAAAGAGAAAGAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	414	0.0024	49	c.424 others(62): Show c.424-67_424-66insGAAAGAAAGAAAGAGAGAAAGAAGAAAGAGAA AGAAAGAAAAGAAAAAG		CLUL1	ENSG00000079101.18	transcript	ENST00000692774.1	protein_coding	5/9						chr18	TogoVar
CMTR2_chr16_71276392_71294402	71288975	T T	TTATAAAG others(42): Show TTATAAAGTCCAATTGCGTCCAGCTTCCTACCAGGCAGCTGGATCGGGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0013 a0004c0005t0013	a0004c0005t0013g0022 a0004c0005t0013g0022	1	437	0.0023	49	c.-79 others(62): Show c.-79-39_-79-38insCACCCGATCCAGCTGCCTGGTAGGAAGCTGGA CGCAATTGGACTTTATA		CMTR2	ENSG00000180917.18	transcript	ENST00000434935.7	protein_coding	1/2						chr16	TogoVar

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