Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
IFNGR1_chr6_137192485_137224385	137199528	A A	AATATATT others(98): Show AATATATTATATATTATATATTATATATAATATATAATATATTATATATT ATATATAATATATAATTTATAATATATTATATATAATATATAATATATTA TATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01175.hp2 HG00140.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	390	0.0051	105	c.862 others(120): Show c.862-890_862-889insAATATATAATATATTATATATTATATATAA TATATTATAAATTATATATTATATATAATATATAATATATTATATATTAT ATATAATATATAATATATAATATAT		IFNGR1	ENSG00000027697.16	transcript	ENST00000367739.9	protein_coding	6/6						chr6	TogoVar
IGSF21_chr1_18102798_18383483	18254357	A A	AAACCCTA others(98): Show AAACCCTAACCCTAACCCTAACCCTAACCCTAACCTTATCTAGCTCCATC CACACATTCACTGGATCTAGACCTCTATCTGAATACAGCGAATGGCTCAA AACCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp2 HG01243.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0127 a0001c0001t0011g0208 a0001c0001t0001g0127 a0001c0001t0011g0208	2	248	0.0081	105	c.183 others(124): Show c.183+26416_183+26417insACCTCTATCTGAATACAGCGAATGGC TCAAAACCCTAACCCTAACCCTAACCCTAACCCTAACCCTAACCTTATCT AGCTCCATCCACACATTCACTGGATCTAG		IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
IL19_chr1_206765773_206847981	206781970	T T	TAGTTATA others(98): Show TAGTTATATATACATATATATGTATATAGTTATATATACATATATATGTA TATAGTTATATATACATATATATGTATATAGTTATATATACATATATATG TATATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00738.hp1 others(22): Show HG00280.hp1 HG00323.hp1 HG00738.hp1 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01192.hp1 HG01358.hp1 HG01952.hp2 HG02004.hp2 HG02027.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02602.hp2 HG02717.hp1 HG02809.hp1 HG02965.hp1 HG03209.hp1 HG03239.hp2 HG03491.hp2 HG03669.hp2 HG04228.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0027 others(19): Show a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0132 a0001c0001t0003g0245 a0001c0001t0003g0252 a0001c0001t0003g0320 a0001c0001t0003g0342 a0001c0001t0003g0347 a0001c0001t0006g0050 a0001c0001t0006g0055 a0001c0001t0014g0033 a0002c0002t0004g0029 a0002c0002t0004g0034	25	366	0.0683	105	c.-14 others(126): Show c.-149+10892_-149+10893insAGTTATATATACATATATATGTAT ATAGTTATATATACATATATATGTATATAGTTATATATACATATATATGT ATATAGTTATATATACATATATATGTATATA		IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6						chr1	TogoVar
ILRUN_chr6_34582288_34701767	34686896	C C	CAGTGAGC others(98): Show CAGTGAGCCGAGATCATTCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCCAAAAAAAAAAAAAAAAAGAAAGGCAAGAATTCTCTGTAT GCCCAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp1 others(107): Show HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18942.hp1 NA18945.hp1 NA18947.hp1 NA18955.hp2 NA18957.hp2 NA18963.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18998.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19057.hp2 NA19065.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0025 a0001c0001t0026 a0001c0001t0029 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(106): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0182 a0001c0001t0001g0241 a0001c0001t0001g0294 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0003g0193 a0001c0001t0003g0207 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0004g0005 a0001c0001t0004g0009 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0013 a0001c0001t0004g0014 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0032 a0001c0001t0004g0043 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0005g0206 a0001c0001t0005g0210 a0001c0001t0005g0211 a0001c0001t0005g0212 a0001c0001t0005g0224 a0001c0001t0005g0225 a0001c0001t0005g0226 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0239 a0001c0001t0005g0295 a0001c0001t0006g0001 a0001c0001t0006g0197 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0006g0204 a0001c0001t0006g0205 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0006g0230 a0001c0001t0006g0240 a0001c0001t0006g0286 a0001c0001t0006g0287 a0001c0001t0010g0305 a0001c0001t0010g0306 a0001c0001t0010g0307 a0001c0001t0015g0198 a0001c0001t0025g0233 a0001c0001t0026g0303 a0001c0001t0029g0315 a0002c0003t0001g0007	110	316	0.3481	105	c.158 others(122): Show c.158+9549_158+9550insCTGGGCATACAGAGAATTCTTGCCTTTC TTTTTTTTTTTTTTTTTGGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGAATGATCTCGGCTCACT		ILRUN	ENSG00000196821.10	transcript	ENST00000374023.8	protein_coding	1/4						chr6	TogoVar
INF2_chr14_104684618_104727535	104720443	T T	TCTCGTGT others(98): Show TCTCGTGTGGATGCTGCTGTGCACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGC GTCGTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0059 a0001c0001t0091g0059	1	380	0.0026	105	c.16 others(116): Show c.1670_*1671insCACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGT GGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT CCTCGTGTGGATGCTGCTGTG		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23				5125	INFO_REALIGN_3_PRIME	chr14	TogoVar
INF2_chr14_104684618_104727535	104720601	C C	CACGTCTG others(98): Show CACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC CTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTG CTGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG03669.hp2 HG00280.hp2 HG03669.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0039 a0002c0004t0039	a0002c0004t0039g0030 a0002c0004t0039g0030	2	380	0.0053	105	c.18 others(116): Show c.1823_*1927dupCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT CCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACGTCTGCGTCGTC		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23				5382	INFO_REALIGN_3_PRIME	chr14	TogoVar
INO80_chr15_40973880_41121280	41031612	A A	AGGAAGGG others(98): Show AGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGG AGGGAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0048 a0001c0001t0003g0048	1	282	0.0036	105	c.290 others(124): Show c.2908-3877_2908-3876insCTCCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCCCTTCC		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INTS1_chr7_1465277_1509389	1484943	A A	ACCCCGTC others(98): Show ACCCCGTCCCCTCCCCAGGGCCACACTGCCGGCTGGCCCCGTCCCCTCCC CAGGGCCACACTGCCGGCTGGCCCCGTCCCCTCCCCAGGGCCACACTGCC GGCTGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp1 HG03579.hp1 HG02630.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136	3	316	0.0095	105	c.326 others(121): Show c.3261+50_3261+154dupCCAGCCGGCAGTGTGGCCCTGGGGAGGGG ACGGGGCCAGCCGGCAGTGTGGCCCTGGGGAGGGGACGGGGCCAGCCGGC AGTGTGGCCCTGGGGAGGGGACGGGG		INTS1	ENSG00000164880.16	transcript	ENST00000404767.8	protein_coding	24/47						chr7	TogoVar
IRAG2_chr12_25047706_25113335	25077360	T T	TATGATAT others(98): Show TATGATATATATGATATATATATGAGATATATATGAGATATATATATGAG ATATATATATGATATATATATGAGATATATATATGAAATATATGAAATAT ATATGA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	344	0.0029	105	c.25- others(120): Show c.25-1884_25-1883insATGATATATATGATATATATATGAGATATA TATGAGATATATATATGAGATATATATATGATATATATATGAGATATATA TATGAAATATATGAAATATATATGA		IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21						chr12	TogoVar
IRF2_chr4_184382729_184479550	184430268	C C	CTGTATGC others(98): Show CTGTATGCCTCCTGCTGTCTGGCCCAGCCTTTTCCTTGTATGCCTCCTGC AGTCTGGCCCAGCCTTTTCCTTGTATGCCTCCTGCAGTCTGGCCCAGCCT TTTCCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01256.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0082 a0001c0001t0003g0083	2	376	0.0053	105	c.-6- others(120): Show c.-6-1199_-6-1198insAGGAAAAGGCTGGGCCAGACTGCAGGAGGC ATACAAGGAAAAGGCTGGGCCAGACTGCAGGAGGCATACAAGGAAAAGGC TGGGCCAGACAGCAGGAGGCATACA		IRF2	ENSG00000168310.12	transcript	ENST00000393593.8	protein_coding	1/8						chr4	TogoVar
ITGA11_chr15_68291532_68437163	68400893	T T	TAATATAT others(98): Show TAATATATATTATATAATAAATATTATAATATTATATATTATATAATAAA TATTATAATATTATATATTATATAATAAATATTATAATATTATATATTAT ATAATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0113 a0002c0010t0113	a0002c0010t0113g0145 a0002c0010t0113g0145	1	242	0.0041	105	c.164 others(122): Show c.164+2024_164+2025insTATTATATAATATATAATATTATAATAT TTATTATATAATATATAATATTATAATATTTATTATATAATATATAATAT TATAATATTTATTATATAATATATATT		ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29						chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400893	T T	TATTATAT others(98): Show TATTATATATTATATAATAAATATTATAATATTATATATTATATAATAAA TATTATAATATTATATATTATATAATAAATATTATAATATTATATATTAT ATAATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01515.hp1 HG01517.hp1 HG00738.hp2 HG01515.hp1 HG01517.hp1	a0002 a0006 a0002 a0006	a0002c0007 a0006c0033 a0002c0007 a0006c0033	a0002c0007t0001 a0006c0033t0023 a0006c0033t0024 a0002c0007t0001 a0006c0033t0023 a0006c0033t0024	a0002c0007t0001g0143 a0006c0033t0023g0010 a0006c0033t0024g0011 a0002c0007t0001g0143 a0006c0033t0023g0010 a0006c0033t0024g0011	3	242	0.0124	105	c.164 others(122): Show c.164+2024_164+2025insTATTATATAATATATAATATTATAATAT TTATTATATAATATATAATATTATAATATTTATTATATAATATATAATAT TATAATATTTATTATATAATATATAAT		ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29						chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400924	A A	ATATTATA others(98): Show ATATTATATATTATATAATAAATATTATAATATTATATATTATATAATAA TTATAATATTATATATTATATAATAAATATTATAATATTATATATTATAT AATAAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0004 a0004	a0004c0080 a0004c0080	a0004c0080t0015 a0004c0080t0015	a0004c0080t0015g0115 a0004c0080t0015g0115	1	242	0.0041	105	c.164 others(122): Show c.164+1993_164+1994insATTATTATATAATATATAATATTATAAT ATTTATTATATAATATATAATATTATAATTATTATATAATATATAATATT ATAATATTTATTATATAATATATAATA		ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29						chr15	TogoVar
ITIH2_chr10_7698316_7754520	7719923	A A	AAAGTGTG others(98): Show AAAGTGTGGGAGGGTGGGAGTGGGGAGACTTGGGAGAAGTGTGGGAGGGT GGGAGTGGGGAGACTTGGGAGAAGTGTGGGAGGGTGGGAGTGGGGAGACT TGGGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG03704.hp1 others(1): Show HG02572.hp1 HG02723.hp1 HG03704.hp1 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0184 a0001c0001t0001g0237 a0001c0002t0001g0351 others(1): Show a0001c0001t0001g0184 a0001c0001t0001g0237 a0001c0002t0001g0351 a0002c0003t0001g0183	4	380	0.0105	105	c.631 others(120): Show c.631-803_631-699dupAGACTTGGGAGAAGTGTGGGAGGGTGGGAG TGGGGAGACTTGGGAGAAGTGTGGGAGGGTGGGAGTGGGGAGACTTGGGA GAAGTGTGGGAGGGTGGGAGTGGGG		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	6/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITIH2_chr10_7698316_7754520	7737867	A A	CTATATTA others(98): Show CTATATTATATTCTATATATTATATATTATATTCTATATATTATATATTA TATTCTATATATTATATATTATATTCTATATATTATATATTATATTCTAT ATATTA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	380	0.0026	105	c.195 others(122): Show c.1958-755_1958-754insCTATATTATATTCTATATATTATATATT ATATTCTATATATTATATATTATATTCTATATATTATATATTATATTCTA TATATTATATATTATATTCTATATATT		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20						chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159769	T T	TGGGGGGC others(98): Show TGGGGGGCCTCTTCCTGTGTGATGCTGCAGGGGGGTCTATTCCTGTGTCT TACTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTGTG ATGCTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	158	0.0063	105	c.222 others(124): Show c.2221-3434_2221-3433insCCTCTTCCTGTGTGATGCTGCAGGGG GGTCTATTCCTGTGTCTTACTGGGGGGGCCTCTCCCTGTGTGATGCTGGG GAGCCTCTTCCAGTGTGATGCTGGGGGGG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159769	T T	TGGGGGGC others(98): Show TGGGGGGCCTCTTCCTGTGTGATGCTGCGGGGGGGTCTATTCCTGTGTCT TACTGGGGGAGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTGTG ATGCTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0008 a0002c0025t0008	a0002c0025t0008g0033 a0002c0025t0008g0033	1	158	0.0063	105	c.222 others(124): Show c.2221-3434_2221-3433insCCTCTTCCTGTGTGATGCTGCGGGGG GGTCTATTCCTGTGTCTTACTGGGGGAGCCTCTCCCTGTGTGATGCTGGG GAGCCTCTTCCAGTGTGATGCTGGGGGGG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159769	T T	TGGGGGGC others(98): Show TGGGGGGCCTCTTCCTGTGTGATGCTGCGGGGGGGTCTATTCCTGTGTCT TACTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTGTG ATGCTG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp2 HG01243.hp2 others(10): Show HG01069.hp1 HG01175.hp2 HG01243.hp2 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02717.hp1 HG02895.hp1 HG02897.hp2 HG03225.hp2 HG03540.hp1 HG06807.hp2 NA18522.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0013 others(7): Show a0001c0001 a0001c0006 a0001c0013 a0001c0017 a0001c0019 a0002c0005 a0002c0016 a0002c0037 a0004c0011 a0004c0043	a0001c0001t0003 a0001c0006t0017 a0001c0013t0024 others(8): Show a0001c0001t0003 a0001c0006t0017 a0001c0013t0024 a0001c0017t0003 a0001c0019t0003 a0002c0005t0001 a0002c0016t0006 a0002c0016t0014 a0002c0037t0001 a0004c0011t0001 a0004c0043t0005	a0001c0001t0003g0102 a0001c0006t0017g0154 a0001c0013t0024g0078 others(10): Show a0001c0001t0003g0102 a0001c0006t0017g0154 a0001c0013t0024g0078 a0001c0017t0003g0011 a0001c0017t0003g0104 a0001c0019t0003g0081 a0002c0005t0001g0016 a0002c0016t0006g0099 a0002c0016t0014g0143 a0002c0016t0014g0144 a0002c0037t0001g0139 a0004c0011t0001g0134 a0004c0043t0005g0125	13	158	0.0823	105	c.222 others(124): Show c.2221-3434_2221-3433insCCTCTTCCTGTGTGATGCTGCGGGGG GGTCTATTCCTGTGTCTTACTGGGGGGGCCTCTCCCTGTGTGATGCTGGG GAGCCTCTTCCAGTGTGATGCTGGGGGGG		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159775	G G	GCCTCTTC others(98): Show GCCTCTTCCTGTGTGATGCTGCGGGGGGGTCTATTCCTGTGTCTTACTGG GGGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTGTGATGCTG GGGGGT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0040 a0004c0011t0040	a0004c0011t0040g0060 a0004c0011t0040g0060	1	158	0.0063	105	c.222 others(124): Show c.2221-3434_2221-3433insCCTCTTCCTGTGTGATGCTGCGGGGG GGTCTATTCCTGTGTCTTACTGGGGGGGCCTCTCCCTGTGTGATGCTGGG GAGCCTCTTCCAGTGTGATGCTGGGGGGT		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23						chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132159801	C C	CCTCTTCC others(98): Show CCTCTTCCTGTGTGATGCTGCGGGGGGGTCTATTCCTGTGTCTTACTGGG GGGGCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCAGTGTGATGCTGG GGGGGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02074.hp1 HG02132.hp2 others(5): Show HG02015.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02523.hp1 HG04184.hp1 NA18954.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0001c0015 a0003c0003 others(2): Show a0001c0001 a0001c0015 a0003c0003 a0004c0007 a0007c0039	a0001c0001t0002 a0001c0015t0002 a0003c0003t0005 others(4): Show a0001c0001t0002 a0001c0015t0002 a0003c0003t0005 a0003c0003t0012 a0004c0007t0002 a0004c0007t0012 a0007c0039t0002	a0001c0001t0002g0027 a0001c0001t0002g0146 a0001c0015t0002g0018 others(5): Show a0001c0001t0002g0027 a0001c0001t0002g0146 a0001c0015t0002g0018 a0003c0003t0005g0072 a0003c0003t0012g0063 a0004c0007t0002g0026 a0004c0007t0012g0067 a0007c0039t0002g0133	8	158	0.0506	105	c.222 others(124): Show c.2221-3404_2221-3403insTCCTGTGTGATGCTGCGGGGGGGTCT ATTCCTGTGTCTTACTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCC TCTTCCAGTGTGATGCTGGGGGGGTCTCT		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132160811	G G	GGGGGGGG others(98): Show GGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGGCCTCTCACTGTGTGA TGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGCGTGTCTTTCTGTGT GATGCT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG01175.hp2 others(10): Show HG00280.hp2 HG00423.hp1 HG01175.hp2 HG02015.hp2 HG02258.hp2 HG02897.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 NA18960.hp1 NA18966.hp2 NA18983.hp1 NA19004.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0019 a0002c0005 others(7): Show a0001c0001 a0001c0019 a0002c0005 a0002c0023 a0003c0002 a0003c0021 a0003c0052 a0004c0011 a0004c0027 a0008c0049	a0001c0001t0001 a0001c0019t0001 a0002c0005t0010 others(7): Show a0001c0001t0001 a0001c0019t0001 a0002c0005t0010 a0002c0023t0001 a0003c0002t0001 a0003c0021t0001 a0003c0052t0001 a0004c0011t0001 a0004c0027t0001 a0008c0049t0001	a0001c0001t0001g0116 a0001c0019t0001g0152 a0002c0005t0010g0061 others(10): Show a0001c0001t0001g0116 a0001c0019t0001g0152 a0002c0005t0010g0061 a0002c0005t0010g0095 a0002c0023t0001g0058 a0003c0002t0001g0109 a0003c0002t0001g0110 a0003c0021t0001g0022 a0003c0021t0001g0023 a0003c0052t0001g0004 a0004c0011t0001g0134 a0004c0027t0001g0066 a0008c0049t0001g0113	13	158	0.0823	105	c.222 others(124): Show c.2221-2386_2221-2385insCCCTGTGTGATGCTGGGGGGGGCCTC TCACTGTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGCGTG TCTTTCTGTGTGATGCTGGGGGGGCCTCT		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
KCMF1_chr2_84966161_85064472	85008375	G G	GATATAGA others(98): Show GATATAGAATATATATCATATATAATATATAATATGATATATAATATATA TCATATATAATATATCATATGATATATAATATATATCATATATAATATAT AATGAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0274 a0001c0001t0063g0274	1	274	0.0037	105	c.17- others(122): Show c.17-19509_17-19508insGAATATATATCATATATAATATATAATA TGATATATAATATATATCATATATAATATATCATATGATATATAATATAT ATCATATATAATATATAATGATATATA		KCMF1	ENSG00000176407.18	transcript	ENST00000409785.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
KDSR_chr18_63322726_63372206	63361017	A A	ATATATAT others(98): Show ATATATATATATAAAATATATATATAATATATAATATATATAATAAAAAT ATATATTTTATATATATATAATATATATAATAAAAATATATATTTTATAT ATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0289 a0001c0002t0010g0289	1	406	0.0025	105	c.199 others(122): Show c.199-1226_199-1225insATATATATATAAAATATATATTTTTATT ATATATATTATATATATATAAAATATATATTTTTATTATATATATTATAT ATTATATATATATTTTATATATATATA		KDSR	ENSG00000119537.18	transcript	ENST00000645214.2	protein_coding	2/9						chr18	TogoVar
KIAA0930_chr22_45187244_45245894	45229053	A A	ACTCACCC others(98): Show ACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAG ATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCCCCATCC CCCCCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02723.hp1 NA21309.hp1 HG01109.hp2 HG02723.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0094 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0001g0094 a0001c0001t0002g0067 a0001c0001t0002g0068	3	398	0.0075	105	c.64+ others(122): Show c.64+11586_64+11587insGGGGGGGGATGGGGAGGGATCTTTCGGG TGAGTGGTGGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGG GGGGTGGAGAGGGATCTTTCGGGTGAG		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9						chr22	TogoVar
KIF16B_chr20_16267104_16578448	16395291	A A	AGGGAGGG others(98): Show AGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGCCAAGGGAGGGGAGGGGA GGGGAGGAGAGGGGAGGCCAAGGGAGGGGAGGGGAGGAGAGGGGAGGCCA AGGGAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18946.hp1 HG02809.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0002 a0001c0001t0011 a0001c0002t0002	a0001c0001t0011g0011 a0001c0002t0002g0085 a0001c0001t0011g0011 a0001c0002t0002g0085	2	250	0.0080	105	c.178 others(124): Show c.1784+9521_1784+9522insCTCCCTTGGCCTCCCCTCTCCTCCCC TCCCCTCCCTTGGCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCTTGGCC TCCCCTCTCCTCCCCTCCCCTCCCCTCCC		KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	17/25						chr20	TogoVar
KIF16B_chr20_16267104_16578448	16395356	A A	AGGGAGGG others(98): Show AGGGAGGGGAGGGGAGGAGAGGGGAGGCCAAGGGAGGGGAGGGGAGGGGA GGAGAGGGGAGGCCAAGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGCCA AGGGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG00642.hp2 others(63): Show HG00099.hp1 HG00558.hp1 HG00642.hp2 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02273.hp1 HG02280.hp2 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02683.hp2 HG02735.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03942.hp1 HG04115.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18973.hp2 NA18974.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18994.hp1 NA18995.hp2 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp1 NA19077.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0014	a0001c0001 a0001c0002 a0001c0023 others(3): Show a0001c0001 a0001c0002 a0001c0023 a0002c0003 a0007c0020 a0014c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0023t0002 a0002c0003t0001 a0002c0003t0002 a0007c0020t0010 a0014c0024t0003	a0001c0001t0001g0063 a0001c0001t0001g0123 a0001c0001t0001g0144 others(63): Show a0001c0001t0001g0063 a0001c0001t0001g0123 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0174 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0028 a0001c0001t0002g0041 a0001c0001t0002g0084 a0001c0001t0002g0103 a0001c0001t0002g0106 a0001c0001t0002g0121 a0001c0001t0002g0143 a0001c0001t0002g0146 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0197 a0001c0001t0002g0205 a0001c0001t0003g0017 a0001c0001t0003g0050 a0001c0001t0003g0074 a0001c0001t0003g0145 a0001c0001t0003g0163 a0001c0001t0003g0168 a0001c0001t0003g0203 a0001c0001t0004g0219 a0001c0001t0004g0228 a0001c0001t0004g0245 a0001c0001t0004g0248 a0001c0001t0005g0221 a0001c0001t0005g0243 a0001c0001t0010g0225 a0001c0001t0013g0210 a0001c0001t0013g0213 a0001c0001t0016g0115 a0001c0001t0022g0218 a0001c0002t0001g0045 a0001c0002t0001g0070 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0027 a0001c0002t0002g0033 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0002g0044 a0001c0002t0002g0058 a0001c0002t0002g0061 a0001c0002t0002g0072 a0001c0002t0002g0081 a0001c0002t0002g0099 a0001c0002t0002g0101 a0001c0002t0002g0188 a0001c0002t0002g0189 a0001c0002t0003g0032 a0001c0002t0003g0125 a0001c0002t0007g0097 a0001c0002t0008g0082 a0001c0002t0008g0182 a0001c0023t0002g0191 a0002c0003t0001g0067 a0002c0003t0001g0159 a0002c0003t0002g0167 a0007c0020t0010g0244 a0014c0024t0003g0181	66	250	0.2640	105	c.178 others(124): Show c.1784+9456_1784+9457insCTCCCTTGGCCTCCCCTCTCCTCCCC TCCCCTCCCCTCCCTTGGCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCT TGGCCTCCCCTCTCCTCCCCTCCCCTCCC		KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	17/25						chr20	TogoVar
KIF16B_chr20_16267104_16578448	16395356	A A	AGGGAGGG others(98): Show AGGGAGGGGAGGGGAGGAGAGGGGAGGCCAAGGGAGGGGAGGGGAGGGGA GGAGAGGGGAGGCCAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGCCA AGGGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0242 a0001c0001t0010g0242	1	250	0.0040	105	c.178 others(124): Show c.1784+9456_1784+9457insCTCCCTTGGCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCTTGGCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCT TGGCCTCCCCTCTCCTCCCCTCCCCTCCC		KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	17/25						chr20	TogoVar
KIF16B_chr20_16267104_16578448	16395356	A A	AGGGAGGG others(98): Show AGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGCCAAGGGAGGGGAGGGGA GGAGAGGGGAGGCCAAGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGCCA AGGGAG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01884.hp1 HG02109.hp1 others(10): Show HG01361.hp1 HG01884.hp1 HG02109.hp1 HG02451.hp2 HG02818.hp1 HG02818.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03471.hp2 NA19043.hp1 NA20129.hp1	a0001 a0004 a0001 a0004	a0001c0008 a0004c0007 a0004c0012 a0001c0008 a0004c0007 a0004c0012	a0001c0008t0001 a0004c0007t0002 a0004c0007t0003 others(1): Show a0001c0008t0001 a0004c0007t0002 a0004c0007t0003 a0004c0012t0001	a0001c0008t0001g0008 a0001c0008t0001g0024 a0001c0008t0001g0133 others(10): Show a0001c0008t0001g0008 a0001c0008t0001g0024 a0001c0008t0001g0133 a0001c0008t0001g0160 a0001c0008t0001g0185 a0004c0007t0002g0007 a0004c0007t0002g0071 a0004c0007t0002g0152 a0004c0007t0002g0173 a0004c0007t0002g0179 a0004c0007t0003g0206 a0004c0012t0001g0003 a0004c0012t0001g0140	13	250	0.0520	105	c.178 others(124): Show c.1784+9456_1784+9457insCTCCCTTGGCCTCCCCTCTCCTCCCC TCCCCTCCCCTCCCTTGGCCTCCCCTCTCCTCCCCTCCCCTCCCTTGGCC TCCCCTCTCCTCCCCTCCCCTCCCCTCCC		KIF16B	ENSG00000089177.20	transcript	ENST00000354981.7	protein_coding	17/25						chr20	TogoVar
KIF27_chr9_83829099_83926432	83848180	T T	TATATCTG others(98): Show TATATCTGATATATCATATATCTGATATATCTGATATATCATATATCTGA TATATCTGATATATCATATATCTGATATATCTGATATATCATATCTGATA TATCAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03139.hp1 HG03130.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0260 a0001c0002t0001g0220 a0001c0002t0001g0260	2	346	0.0058	105	c.355 others(124): Show c.3556+1918_3556+1919insCTGATATATCAGATATGATATATCAG ATATATCAGATATATGATATATCAGATATATCAGATATATGATATATCAG ATATATCAGATATATGATATATCAGATAT		KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17						chr9	TogoVar
KLHL25_chr15_85754326_85799925	85757581	T T	TCCTCCTC others(98): Show TCCTCCTCCTCCTCCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCTCCT CCCCCTCCTCCTCCTCCCCCTCCTCCCCCCTTCCTCCCCCTCCCCCCTCC CCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	406	0.0025	105	c.34 others(116): Show c.3454_*3455insGGGAGGGGAGGGGGGAGGGGGAGGAAGGGGGGAG GAGGGGGAGGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGGG GGGAGGGGGAGGAGGAGGAGG		KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding					1744		chr15	TogoVar
KLHL25_chr15_85754326_85799925	85757581	T T	TCCTCCTC others(98): Show TCCTCCTCCTCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTC CCCCTCCTCCTCCTCCCCCCTCCTCCCCCCTTCCTCCCCCTCCCCCCTCC CCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	406	0.0025	105	c.34 others(116): Show c.3454_*3455insGGGAGGGGAGGGGGGAGGGGGAGGAAGGGGGGAG GAGGGGGGAGGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGG GGGAGGGGGAGGAGGAGGAGG		KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding					1744		chr15	TogoVar
KLHL25_chr15_85754326_85799925	85757581	T T	TCCTCCTC others(98): Show TCCTCCTCCTCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTC CCCCTCCTCCTCCTCCCCCTCCTCCCCCCTTCCTCCCCCTCCCCCCCTCC CCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	406	0.0025	105	c.34 others(116): Show c.3454_*3455insGGGAGGGGAGGGGGGGAGGGGGAGGAAGGGGGGA GGAGGGGGAGGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGGGAGGAGG GGGAGGGGGAGGAGGAGGAGG		KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding					1744		chr15	TogoVar
KLHL25_chr15_85754326_85799925	85757581	T T	TCCTCCTC others(98): Show TCCTCCTCCTCCTCCCCCTCCCCCTCCTCCTCCCCCTCCTCCCCCTCCCC CTCCTCCCCCCTTCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCTCCCTCC CCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	1	406	0.0025	105	c.34 others(116): Show c.3454_*3455insGGGAGGGGAGGGAGGAGGGGGAGGGGAGGGGGGG AGGGGGAGGAAGGGGGGAGGAGGGGGAGGGGGAGGAGGGGGAGGAGGAGG GGGAGGGGGAGGAGGAGGAGG		KLHL25	ENSG00000183655.13	transcript	ENST00000337975.6	protein_coding					1744		chr15	TogoVar
KRTAP19-1_chr21_30474706_30485367	30484294	T T	TATGTAAT others(98): Show TATGTAATATTTAAATATATACTCCTATATATTTAAATGTAATATTTAAA TATATACTCCTATATATTTAAATGTAATATTTAAATATATACTCCTATAT ATTTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG01975.hp1 HG02293.hp1 others(2): Show HG00609.hp1 HG01975.hp1 HG02293.hp1 NA18980.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	5	424	0.0118	105	c.-39 others(116): Show c.-3978_-3977insTTAAATATATAGGAGTATATATTTAAATATTACA TTTAAATATATAGGAGTATATATTTAAATATTACATTTAAATATATAGGA GTATATATTTAAATATTACAT		KRTAP19-1	ENSG00000184351.8	transcript	ENST00000390689.3	protein_coding					3928		chr21	TogoVar
KRTAP19-2_chr21_30482043_30492436	30484294	T T	TATGTAAT others(98): Show TATGTAATATTTAAATATATACTCCTATATATTTAAATGTAATATTTAAA TATATACTCCTATATATTTAAATGTAATATTTAAATATATACTCCTATAT ATTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01975.hp2 NA18980.hp1 others(1): Show HG00609.hp1 HG01975.hp2 NA18980.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	4	420	0.0095	105	c.28 others(116): Show c.2895_*2896insTTAAATATATAGGAGTATATATTTAAATATTACA TTTAAATATATAGGAGTATATATTTAAATATTACATTTAAATATATAGGA GTATATATTTAAATATTACAT		KRTAP19-2	ENSG00000186965.5	transcript	ENST00000334055.5	protein_coding					2748		chr21	TogoVar
KRTAP2-1_chr17_41041541_41052316	41051410	A A	ATAATATA others(98): Show ATAATATATTATATATAGTAAATATATATAATATATTAATATAGTAAAAT ATATATAATATATTATATATGGTAAAATATATATAATATATTATATATAG TAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00735.hp1 others(71): Show HG00140.hp1 HG00597.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02165.hp2 HG02258.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp1 HG02965.hp2 HG03017.hp1 HG03453.hp2 HG03704.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp1 NA19067.hp1 NA19079.hp2 NA19082.hp1 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp1	a0002 a0010 a0002 a0010	a0002c0002 a0010c0012 a0002c0002 a0010c0012	a0002c0002t0002 a0002c0002t0012 a0010c0012t0002 a0002c0002t0002 a0002c0002t0012 a0010c0012t0002	a0002c0002t0002g0000 a0002c0002t0012g0000 a0010c0012t0002g0000 a0002c0002t0002g0000 a0002c0002t0012g0000 a0010c0012t0002g0000	74	407	0.1818	105	c.-41 others(116): Show c.-4144_-4143insATTTTACTATATATAATATATTATATATATTTTA CCATATATAATATATTATATATATTTTACTATATTAATATATTATATATA TTTACTATATATAATATATTA		KRTAP2-1	ENSG00000212725.4	transcript	ENST00000391419.3	protein_coding					4095		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41051410	A A	ATAATATA others(98): Show ATAATATATTATATATAGTAAATATATATAATATATTAATATAGTAAAAT ATATATAATATATTATATATGGTAAAATATATATAATATATTATATATAG TAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00597.hp2 HG00735.hp1 others(74): Show HG00140.hp1 HG00597.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01255.hp1 HG01256.hp2 HG01358.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02165.hp1 HG02258.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp1 HG02965.hp2 HG03017.hp1 HG03453.hp2 HG03704.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18945.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18992.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19007.hp2 NA19043.hp1 NA19054.hp2 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp2 NA19079.hp1 NA19082.hp2 NA19084.hp2 NA19088.hp2 NA19089.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0012 a0001c0002t0001 a0002c0003t0001 a0003c0006t0003	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0009g0000 others(4): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0009g0000 a0001c0001t0012g0000 a0001c0002t0001g0000 a0002c0003t0001g0000 a0003c0006t0003g0000	77	411	0.1874	105	c.34 others(116): Show c.3429_*3430insATTTTACTATATATAATATATTATATATATTTTA CCATATATAATATATTATATATATTTTACTATATTAATATATTATATATA TTTACTATATATAATATATTA		KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding					3087		chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41054887	C C	CGCAGGGG others(98): Show CGCAGGGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAG GAGGAGGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGG CCGGCA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(144): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18942.hp1 NA18947.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18966.hp1 NA18973.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19067.hp1 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 others(2): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0013 a0003c0004t0001 a0003c0004t0008	a0001c0002t0001g0000 a0001c0002t0005g0000 a0001c0002t0013g0000 others(2): Show a0001c0002t0001g0000 a0001c0002t0005g0000 a0001c0002t0013g0000 a0003c0004t0001g0000 a0003c0004t0008g0000	147	411	0.3577	105	c.324 others(112): Show c.324_325insTGCCGGCCCCCCTGCGGCCAGCCGACCCCTTGCAGCAC CACCTGCAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCCTGTGT CTGTGCAGTCCCCCTGC	p.Cys others(118): Show p.Cys108_Gly109insCysArgProProCysGlyGlnProThrProCy sSerThrThrCysArgThrSerSerCysTerAlaThrThrCysCysGlnP roValSerValGlnSerProCys	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	343/733	324/372	108/123			chr17	TogoVar
KRTAP2-2_chr17_41049498_41060230	41054892	G G	GGGGACTG others(98): Show GGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAGGAGGA GGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGGCCGGC AGCAGA	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG02523.hp2 NA18969.hp2 NA19006.hp2 others(2): Show HG02523.hp2 NA18969.hp2 NA19006.hp2 NA19070.hp2 NA19075.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0000 a0005c0008t0001g0000	5	411	0.0122	105	c.319 others(112): Show c.319_320insTCTGCTGCCGGCCCCCCTGCGGCCAGCCGACCCCTTGC AGCACCACCTGCAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCC TGTGTCTGTGCAGTCCC	p.Ser others(118): Show p.Ser106_Pro107insLeuCysCysArgProProCysGlyGlnProTh rProCysSerThrThrCysArgThrSerSerCysTerAlaThrThrCysC ysGlnProValSerValGlnSer	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	338/733	319/372	107/123			chr17	TogoVar
KRTAP2-3_chr17_41054240_41065114	41054887	C C	CGCAGGGG others(98): Show CGCAGGGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAG GAGGAGGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGG CCGGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(150): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp2 NA18942.hp2 NA18947.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18963.hp1 NA18966.hp1 NA18968.hp2 NA18973.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18998.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19067.hp2 NA19074.hp2 NA19075.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0010	a0001c0001 a0006c0005 a0007c0007 others(1): Show a0001c0001 a0006c0005 a0007c0007 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0006c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0006c0005t0001 a0007c0007t0001 a0010c0012t0001	a0001c0001t0001g0000 a0001c0001t0002g0000 a0006c0005t0001g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0002g0000 a0006c0005t0001g0000 a0007c0007t0001g0000 a0010c0012t0001g0000	153	441	0.3469	105	c.47 others(116): Show c.4776_*4777insTGCCGGCCCCCCTGCGGCCAGCCGACCCCTTGCA GCACCACCTGCAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCCT GTGTCTGTGCAGTCCCCCTGC		KRTAP2-3	ENSG00000212724.3	transcript	ENST00000391418.3	protein_coding					4352		chr17	TogoVar
KRTAP2-3_chr17_41054240_41065114	41054892	G G	GGGGACTG others(98): Show GGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAGGAGGA GGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCGCAGGGGGGCCGGC AGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 NA18969.hp1 NA19006.hp1 others(4): Show HG02523.hp1 NA18969.hp1 NA19006.hp1 NA19055.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0007 a0001c0001 a0007c0007	a0001c0001t0001 a0007c0007t0001 a0001c0001t0001 a0007c0007t0001	a0001c0001t0001g0000 a0007c0007t0001g0000 a0001c0001t0001g0000 a0007c0007t0001g0000	7	441	0.0159	105	c.47 others(116): Show c.4771_*4772insTCTGCTGCCGGCCCCCCTGCGGCCAGCCGACCCC TTGCAGCACCACCTGCAGGACCTCCTCCTGCTGAGCCACCACCTGCTGCC AGCCTGTGTCTGTGCAGTCCC		KRTAP2-3	ENSG00000212724.3	transcript	ENST00000391418.3	protein_coding					4347		chr17	TogoVar
KRTAP2-4_chr17_41060116_41070879	41065457	T T	TCTCAGCA others(98): Show TCTCAGCAGGAGGAGGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCC GCAGGGGGGCCGGCAGCAGGGGGACTGCACAGACACAGGCTGGCAGCAGG TGGTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01074.hp1 HG01168.hp1 others(6): Show HG00735.hp1 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01361.hp1 HG02735.hp1 HG03654.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	9	433	0.0208	105	c.284 others(111): Show c.284_*1dupCCACCACCTGCTGCCAGCCTGTGTCTGTGCAGTCCCCCT GCTGCCGGCCCCCCTGCGGCCAGCCGACCCCTTGCAGCACCACCTGCAGG ACCTCCTCCTGCTGAG		KRTAP2-4	ENSG00000213417.3	transcript	ENST00000394015.3	protein_coding	1/1				1		chr17	TogoVar
KRTAP2-4_chr17_41060116_41070879	41065513	G G	GGGCCGGC others(98): Show GGGCCGGCAGCAGGGGGACTGCACAGACACAGGCTGGCAGCAGGTGGTGG CTCAGCAGGAGGAGGTCCTGCAGGTGGTGCTGCAAGGGGTCGGCTGGCCG CAGGGA	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0000 a0001c0009t0001g0000	1	433	0.0023	105	c.332 others(112): Show c.332_333insTCCCTGCGGCCAGCCGACCCCTTGCAGCACCACCTGCA GGACCTCCTCCTGCTGAGCCACCACCTGCTGCCAGCCTGTGTCTGTGCAG TCCCCCTGCTGCCGGCC	p.Pro others(118): Show p.Pro111_Pro112insProCysGlyGlnProThrProCysSerThrTh rCysArgThrSerSerCysTerAlaThrThrCysCysGlnProValSerV alGlnSerProCysCysArgPro	KRTAP2-4	ENSG00000213417.3	transcript	ENST00000394015.3	protein_coding	1/1	366/764	332/387	111/128			chr17	TogoVar
KRTAP4-16_chr17_41096502_41107209	41097673	A A	AGGGGCAG others(98): Show AGGGGCAGCAGCAGCTGGAGATGCTGCAGCTGGGGCGGCAGCAGTTGGGC TGGCAGCACACAGACTGGCAGCACTGGGGCTTGCAGCAGCTGGACACACA GCAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG02257.hp2 others(16): Show HG01109.hp2 HG02109.hp1 HG02257.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03209.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2	a0001 a0007 a0013 a0001 a0007 a0013	a0001c0005 a0007c0012 a0013c0021 a0001c0005 a0007c0012 a0013c0021	a0001c0005t0001 a0007c0012t0001 a0013c0021t0001 a0001c0005t0001 a0007c0012t0001 a0013c0021t0001	a0001c0005t0001g0000 a0007c0012t0001g0000 a0013c0021t0001g0000 a0001c0005t0001g0000 a0007c0012t0001g0000 a0013c0021t0001g0000	19	423	0.0449	105	c.38 others(116): Show c.3828_*3829insAGCTGCTGTGTGTCCAGCTGCTGCAAGCCCCAGT GCTGCCAGTCTGTGTGCTGCCAGCCCAACTGCTGCCGCCCCAGCTGCAGC ATCTCCAGCTGCTGCTGCCCC		KRTAP4-16	ENSG00000241241.1	transcript	ENST00000440582.1	protein_coding					3828		chr17	TogoVar
KRTAP4-16_chr17_41096502_41107209	41097673	A A	AGGGGCGG others(98): Show AGGGGCGGCAGCAGCTGGAGATGCTGCAGCTGGGGCGGCAGCAGTTGGGC TGGCAGCACACAGACTGGCAGCACTGGGGCTTGCAGCAGCTGGACACACA GCAGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02976.hp2 HG03041.hp2 others(2): Show HG01243.hp1 HG02976.hp2 HG03041.hp2 HG03471.hp2 NA20300.hp2	a0001 a0010 a0017 a0001 a0010 a0017	a0001c0009 a0001c0026 a0010c0013 others(1): Show a0001c0009 a0001c0026 a0010c0013 a0017c0000	a0001c0009t0001 a0001c0026t0001 a0010c0013t0001 others(1): Show a0001c0009t0001 a0001c0026t0001 a0010c0013t0001 a0017c0000t0000	a0001c0009t0001g0000 a0001c0026t0001g0000 a0010c0013t0001g0000 others(1): Show a0001c0009t0001g0000 a0001c0026t0001g0000 a0010c0013t0001g0000 a0017c0000t0000g0000	5	423	0.0118	105	c.37 others(116): Show c.3724_*3828dupAGCTGCTGTGTGTCCAGCTGCTGCAAGCCCCAGT GCTGCCAGTCTGTGTGCTGCCAGCCCAACTGCTGCCGCCCCAGCTGCAGC ATCTCCAGCTGCTGCCGCCCC		KRTAP4-16	ENSG00000241241.1	transcript	ENST00000440582.1	protein_coding					3828		chr17	TogoVar
KRTAP4-3_chr17_41162231_41173221	41167977	T T	TGCAGCAG others(98): Show TGCAGCAGCTGGGTTTGCAGCAGCTGGAGATACAGCAGGAAGGCCTGCAG CAACTGGAAATGCAGCAGCTGGGGCGGCAGCAGGTGGTCCTGCAGCAGGT GGTCAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(148): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01109.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp1 HG02300.hp2 HG02683.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02965.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18973.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19011.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0011 a0002c0002 a0002c0011	a0002c0002t0001 a0002c0011t0001 a0002c0002t0001 a0002c0011t0001	a0002c0002t0001g0000 a0002c0011t0001g0000 a0002c0002t0001g0000 a0002c0011t0001g0000	151	410	0.3683	105	c.195 others(112): Show c.195_196insCTGACCACCTGCTGCAGGACCACCTGCTGCCGCCCCAG CTGCTGCATTTCCAGTTGCTGCAGGCCTTCCTGCTGTATCTCCAGCTGCT GCAAACCCAGCTGCTGC	p.Cys others(116): Show p.Cys65_Arg66insLeuThrThrCysCysArgThrThrCysCysArgP roSerCysCysIleSerSerCysCysArgProSerCysCysIleSerSer CysCysLysProSerCysCys	KRTAP4-3	ENSG00000196156.5	transcript	ENST00000391356.4	protein_coding	1/1	244/991	195/588	65/195			chr17	TogoVar
KRTAP4-3_chr17_41162231_41173221	41167977	T T	TGCAGCAG others(98): Show TGCAGCAGCTGGGTTTGCAGCAGCTGGAGATACAGCAGGAAGGCCTGCAG CAACTGGAAATGCAGCAGCTGGGGCGGCAGCAGGTGGTCCTGCAGCAGGT GGTCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp2 HG02486.hp2 HG02647.hp2 others(7): Show HG02145.hp2 HG02486.hp2 HG02647.hp2 HG02809.hp1 HG02922.hp1 HG02970.hp1 HG03209.hp2 HG03471.hp1 HG03579.hp2 HG06807.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0000 a0002c0005t0003g0000	10	410	0.0244	105	c.91_ others(111): Show c.91_195dupCAGACCACCTGCTGCAGGACCACCTGCTGCCGCCCCAGC TGCTGCATTTCCAGTTGCTGCAGGCCTTCCTGCTGTATCTCCAGCTGCTG CAAACCCAGCTGCTGC	p.Cys others(116): Show p.Cys65_Arg66insGlnThrThrCysCysArgThrThrCysCysArgP roSerCysCysIleSerSerCysCysArgProSerCysCysIleSerSer CysCysLysProSerCysCys	KRTAP4-3	ENSG00000196156.5	transcript	ENST00000391356.4	protein_coding	1/1	244/991	195/588	65/195			chr17	TogoVar
KRTAP4-3_chr17_41162231_41173221	41168028	A A	AACTGGAA others(98): Show AACTGGAAATGCAGCAGCTGGGGCGGCAGCAGGTGGTCCTGCAGCAGGTG GTCTGGCAGCAGCTGGGTTTGCAGCAGCTGGAGATACAGCAGGAAGGCCT GCAGCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01243.hp2 HG02055.hp2 HG02976.hp2 others(4): Show HG01243.hp2 HG02055.hp2 HG02976.hp2 HG03041.hp2 HG03453.hp2 HG03471.hp2 NA20300.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0004 a0006c0007t0002 a0006c0007t0004	a0006c0007t0002g0000 a0006c0007t0004g0000 a0006c0007t0002g0000 a0006c0007t0004g0000	7	410	0.0171	105	c.144 others(112): Show c.144_145insCGCTGCAGGCCTTCCTGCTGTATCTCCAGCTGCTGCAA ACCCAGCTGCTGCCAGACCACCTGCTGCAGGACCACCTGCTGCCGCCCCA GCTGCTGCATTTCCAGT	p.Ser others(116): Show p.Ser48_Cys49insArgCysArgProSerCysCysIleSerSerCysC ysLysProSerCysCysGlnThrThrCysCysArgThrThrCysCysArg ProSerCysCysIleSerSer	KRTAP4-3	ENSG00000196156.5	transcript	ENST00000391356.4	protein_coding	1/1	193/991	144/588	48/195			chr17	TogoVar
KRTAP4-8_chr17_41091981_41103142	41097673	A A	AGGGGCAG others(98): Show AGGGGCAGCAGCAGCTGGAGATGCTGCAGCTGGGGCGGCAGCAGTTGGGC TGGCAGCACACAGACTGGCAGCACTGGGGCTTGCAGCAGCTGGACACACA GCAGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01109.hp2 HG02109.hp2 HG02257.hp1 others(17): Show HG01109.hp2 HG02109.hp2 HG02257.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0014 a0004c0004 a0005c0014	a0004c0004t0004 a0005c0014t0004 a0004c0004t0004 a0005c0014t0004	a0004c0004t0004g0000 a0005c0014t0004g0000 a0004c0004t0004g0000 a0005c0014t0004g0000	20	416	0.0481	105	c.411 others(112): Show c.411_412insAGCTGCTGTGTGTCCAGCTGCTGCAAGCCCCAGTGCTG CCAGTCTGTGTGCTGCCAGCCCAACTGCTGCCGCCCCAGCTGCAGCATCT CCAGCTGCTGCTGCCCC	p.Pro others(118): Show p.Pro137_Ser138insSerCysCysValSerSerCysCysLysProGl nCysCysGlnSerValCysCysGlnProAsnCysCysArgProSerCysS erIleSerSerCysCysCysPro	KRTAP4-8	ENSG00000204880.9	transcript	ENST00000333822.5	protein_coding	1/1	469/1162	411/558	137/185			chr17	TogoVar
KRTAP4-8_chr17_41091981_41103142	41097673	A A	AGGGGCGG others(98): Show AGGGGCGGCAGCAGCTGGAGATGCTGCAGCTGGGGCGGCAGCAGTTGGGC TGGCAGCACACAGACTGGCAGCACTGGGGCTTGCAGCAGCTGGACACACA GCAGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01243.hp1 HG01884.hp1 HG02055.hp1 others(4): Show HG01243.hp1 HG01884.hp1 HG02055.hp1 HG02976.hp2 HG03041.hp1 HG03471.hp1 NA20300.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0007 a0004c0006t0009 a0004c0006t0007 a0004c0006t0009	a0004c0006t0007g0000 a0004c0006t0009g0000 a0004c0006t0007g0000 a0004c0006t0009g0000	7	416	0.0168	105	c.307 others(112): Show c.307_411dupAGCTGCTGTGTGTCCAGCTGCTGCAAGCCCCAGTGCTG CCAGTCTGTGTGCTGCCAGCCCAACTGCTGCCGCCCCAGCTGCAGCATCT CCAGCTGCTGCCGCCCC	p.Pro others(118): Show p.Pro137_Ser138insSerCysCysValSerSerCysCysLysProGl nCysCysGlnSerValCysCysGlnProAsnCysCysArgProSerCysS erIleSerSerCysCysArgPro	KRTAP4-8	ENSG00000204880.9	transcript	ENST00000333822.5	protein_coding	1/1	469/1162	411/558	137/185			chr17	TogoVar

Search by Variant

Search

Search Results