Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MYOZ3_chr5_150656251_150684368	150675226	T T	TTGTGTGC others(11): Show TTGTGTGCGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0109 a0002c0002t0007g0109	1	394	0.0025	18	c.588 others(35): Show c.588-1475_588-1474insCGTGTGTGTGTGTGTGTG	MYOZ3	ENSG00000164591.14	transcript	ENST00000517768.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
MYPN_chr10_68104488_68217017	68182336	C C	CATATATA others(11): Show CATATATATAACATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp2 HG02451.hp1 others(3): Show HG01070.hp2 HG01109.hp2 HG02451.hp1 HG03098.hp1 HG03516.hp2 NA19043.hp2	a0001 a0003 a0014 others(1): Show a0001 a0003 a0014 a0015	a0001c0006 a0003c0011 a0014c0017 others(1): Show a0001c0006 a0003c0011 a0014c0017 a0015c0021	a0001c0006t0006 a0003c0011t0004 a0003c0011t0006 others(2): Show a0001c0006t0006 a0003c0011t0004 a0003c0011t0006 a0014c0017t0006 a0015c0021t0009	a0001c0006t0006g0192 a0001c0006t0006g0303 a0003c0011t0004g0228 others(3): Show a0001c0006t0006g0192 a0001c0006t0006g0303 a0003c0011t0004g0228 a0003c0011t0006g0208 a0014c0017t0006g0232 a0015c0021t0009g0230	6	306	0.0196	18	c.270 others(37): Show c.2704-6568_2704-6567insTATATATAACATATATAA	MYPN	ENSG00000138347.17	transcript	ENST00000358913.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYPN_chr10_68104488_68217017	68203718	C C	CAGAGAGA others(11): Show CAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0003 a0001c0024t0003	a0001c0024t0003g0273 a0001c0024t0003g0273	1	306	0.0033	18	c.365 others(37): Show c.3659+1725_3659+1726insGAGAGAGAGAGAGAGAGA	MYPN	ENSG00000138347.17	transcript	ENST00000358913.10	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
MYRIP_chr3_39804609_40265321	40098740	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18952.hp2 NA18612.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0102 a0001c0001t0001g0058 a0001c0001t0001g0102	2	170	0.0118	18	c.333 others(37): Show c.333-52286_333-52269dupGTGTGTGTGTGTGTGTGT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40129440	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0005 a0001c0015t0005	a0001c0015t0005g0038 a0001c0015t0005g0038	1	170	0.0059	18	c.333 others(37): Show c.333-21589_333-21572dupAAAAAAAAAAAAAAAAAA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40204032	T T	TTATATAA others(11): Show TTATATAATATATATTATA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0141 a0001c0002t0002g0141	1	170	0.0059	18	c.166 others(37): Show c.1666-5816_1666-5815insATATATATTATATATATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40218612	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	170	0.0059	18	c.190 others(37): Show c.1905+8546_1905+8563dupTATATATATATATATATA	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40218612	T T	TTTTATAT others(11): Show TTTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0073 a0003c0007t0001g0073	1	170	0.0059	18	c.190 others(37): Show c.1905+8520_1905+8521insTTATATATATATATATAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYSM1_chr1_58649743_58705062	58651407	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00738.hp1 HG01099.hp1 others(22): Show HG00609.hp1 HG00738.hp1 HG01099.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01891.hp2 HG02004.hp2 HG02148.hp2 HG02273.hp2 HG02559.hp2 HG02630.hp2 HG02965.hp2 HG03540.hp1 NA18948.hp1 NA18953.hp2 NA18965.hp2 NA18986.hp1 NA18991.hp1 NA19000.hp2 NA19043.hp2 NA19054.hp1 NA19088.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0057 a0002c0002t0044 a0002c0002t0076 a0003c0003t0003 a0003c0003t0010 a0003c0003t0035 a0004c0004t0023 a0004c0004t0031 a0004c0004t0039	a0001c0001t0001g0016 a0001c0001t0001g0205 a0001c0001t0004g0166 others(18): Show a0001c0001t0001g0016 a0001c0001t0001g0205 a0001c0001t0004g0166 a0001c0001t0008g0163 a0001c0001t0017g0173 a0001c0001t0019g0269 a0001c0001t0021g0172 a0001c0001t0057g0042 a0002c0002t0044g0006 a0002c0002t0076g0049 a0003c0003t0003g0001 a0003c0003t0003g0004 a0003c0003t0003g0306 a0003c0003t0003g0330 a0003c0003t0010g0333 a0003c0003t0035g0334 a0004c0004t0023g0325 a0004c0004t0031g0028 a0004c0004t0031g0341 a0004c0004t0039g0354 a0004c0004t0039g0355	25	410	0.0610	18	c.85 others(29): Show c.8572_*8589dupACACACACACACACACAC	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3335		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58658958	A A	AACACACA others(11): Show AACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0073 a0002c0002t0073	a0002c0002t0073g0081 a0002c0002t0073g0081	1	410	0.0024	18	c.10 others(29): Show c.1021_*1038dupGTGTGTGTGTGTGTGTGT	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	20/20	1038		chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0274 a0001c0001t0055g0274	1	410	0.0024	18	c.68+ others(33): Show c.68+1882_68+1883insAAAAAATATATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18906.hp2 HG02717.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0053 a0001c0001t0036 a0001c0001t0053	a0001c0001t0036g0036 a0001c0001t0053g0043 a0001c0001t0036g0036 a0001c0001t0053g0043	2	410	0.0049	18	c.68+ others(33): Show c.68+1882_68+1883insAAAAAAAAAATATATATA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58698102	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0077 a0002c0002t0077	a0002c0002t0077g0046 a0002c0002t0077g0046	1	410	0.0024	18	c.68+ others(33): Show c.68+1882_68+1883insAAAAAAAAAAAAAAAAAA	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding	1/19			chr1	TogoVar
MYSM1_chr1_58649743_58705062	58703211	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	410	0.0024	18	c.-31 others(29): Show c.-3160_-3159insTTTTTTTTTTTTTTTTTT	MYSM1	ENSG00000162601.12	transcript	ENST00000472487.6	protein_coding		3150		chr1	TogoVar
MYT1L_chr2_1784113_2336275	1948696	C C	CCCAGCAC others(11): Show CCCAGCACTGTGTCCTCGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00544.hp2 others(27): Show HG00140.hp1 HG00280.hp2 HG00544.hp2 HG00673.hp2 HG02083.hp1 HG02083.hp2 HG02135.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02572.hp2 HG02647.hp2 HG02698.hp2 HG02735.hp1 HG02818.hp2 HG02897.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03942.hp2 NA18945.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA19055.hp1 NA19060.hp2 NA20129.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0001c0005 a0001c0006 others(12): Show a0001c0003 a0001c0005 a0001c0006 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0002c0011 a0003c0010	a0001c0003t0001 a0001c0003t0003 a0001c0003t0017 others(19): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0017 a0001c0003t0025 a0001c0005t0002 a0001c0005t0026 a0001c0006t0001 a0001c0006t0003 a0001c0006t0007 a0001c0014t0002 a0001c0015t0001 a0001c0016t0002 a0001c0017t0005 a0001c0018t0002 a0001c0019t0002 a0001c0020t0005 a0001c0021t0002 a0001c0022t0016 a0001c0023t0003 a0002c0011t0001 a0003c0010t0003 a0003c0010t0009	a0001c0003t0001g0021 a0001c0003t0001g0023 a0001c0003t0001g0041 others(27): Show a0001c0003t0001g0021 a0001c0003t0001g0023 a0001c0003t0001g0041 a0001c0003t0001g0094 a0001c0003t0001g0100 a0001c0003t0003g0059 a0001c0003t0017g0014 a0001c0003t0025g0055 a0001c0005t0002g0099 a0001c0005t0026g0103 a0001c0006t0001g0018 a0001c0006t0001g0024 a0001c0006t0001g0083 a0001c0006t0003g0027 a0001c0006t0003g0028 a0001c0006t0007g0098 a0001c0014t0002g0070 a0001c0015t0001g0015 a0001c0016t0002g0016 a0001c0017t0005g0097 a0001c0018t0002g0085 a0001c0019t0002g0061 a0001c0020t0005g0081 a0001c0021t0002g0026 a0001c0022t0016g0012 a0001c0023t0003g0057 a0002c0011t0001g0043 a0002c0011t0001g0078 a0003c0010t0003g0039 a0003c0010t0009g0013	30	104	0.2885	18	c.153 others(35): Show c.153-5363_153-5362insACGAGGACACAGTGCTGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2122872	T T	TGTGTGTG others(11): Show TGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0074 a0001c0005t0011g0074	1	104	0.0096	18	c.-30 others(39): Show c.-304+49999_-304+50000insTCTCTCTCTCTCACACAC	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	3/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2158618	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0005 a0001c0020t0005	a0001c0020t0005g0081 a0001c0020t0005g0081	1	104	0.0096	18	c.-30 others(39): Show c.-304+14236_-304+14253dupGTGTGTGTGTGTGTGTGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	3/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262915	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19009.hp2 NA19012.hp1 others(1): Show HG02559.hp1 NA19009.hp2 NA19012.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0024 a0001c0002 a0001c0003 a0001c0024	a0001c0002t0002 a0001c0002t0023 a0001c0003t0003 others(1): Show a0001c0002t0002 a0001c0002t0023 a0001c0003t0003 a0001c0024t0020	a0001c0002t0002g0031 a0001c0002t0023g0051 a0001c0003t0003g0077 others(1): Show a0001c0002t0002g0031 a0001c0002t0023g0051 a0001c0003t0003g0077 a0001c0024t0020g0064	4	104	0.0385	18	c.-42 others(39): Show c.-421+21488_-421+21489insATATATATATATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262939	G G	GACATATA others(11): Show GACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0067 a0001c0003t0001g0067	1	104	0.0096	18	c.-42 others(39): Show c.-421+21464_-421+21465insATATATATATATATATGT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2262939	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03453.hp1 NA18990.hp1 HG02257.hp1 HG03453.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0016 a0001c0001 a0001c0009 a0001c0016	a0001c0001t0001 a0001c0009t0008 a0001c0016t0002 a0001c0001t0001 a0001c0009t0008 a0001c0016t0002	a0001c0001t0001g0050 a0001c0009t0008g0007 a0001c0016t0002g0016 a0001c0001t0001g0050 a0001c0009t0008g0007 a0001c0016t0002g0016	3	104	0.0289	18	c.-42 others(39): Show c.-421+21464_-421+21465insATATATATATATATATAT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	2/24			chr2	TogoVar
MYT1L_chr2_1784113_2336275	2295705	C C	CAGACAGA others(11): Show CAGACAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03239.hp2 HG03831.hp2 others(1): Show HG02698.hp2 HG03239.hp2 HG03831.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0018	a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0004t0001 a0001c0006t0001 a0001c0018t0002	a0001c0001t0001g0082 a0001c0004t0001g0084 a0001c0006t0001g0083 others(1): Show a0001c0001t0001g0082 a0001c0004t0001g0084 a0001c0006t0001g0083 a0001c0018t0002g0085	4	104	0.0385	18	c.-52 others(39): Show c.-520-11203_-520-11202insCTCTCTCTCTCTCTGTCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
MYT1_chr20_64159452_64247253	64170884	T T	TATAGAGA others(11): Show TATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	223	0.0045	18	c.-99 others(35): Show c.-99+6146_-99+6147insTAGAGAGAGAGAGAGAGA	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64170884	T T	TATATAGA others(11): Show TATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	223	0.0045	18	c.-99 others(35): Show c.-99+6146_-99+6147insTATAGAGAGAGAGAGAGA	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64170884	T T	TATATATA others(11): Show TATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0150 a0001c0004t0004g0150	1	223	0.0045	18	c.-99 others(35): Show c.-99+6146_-99+6147insTATATATATATATAGAGA	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64198286	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03579.hp2 HG03225.hp1 HG03579.hp2	a0002 a0002	a0002c0008 a0002c0011 a0002c0008 a0002c0011	a0002c0008t0017 a0002c0011t0003 a0002c0008t0017 a0002c0011t0003	a0002c0008t0017g0131 a0002c0011t0003g0216 a0002c0008t0017g0131 a0002c0011t0003g0216	2	223	0.0090	18	c.1-5 others(29): Show c.1-566_1-549dupAAAAAAAAAAAAAAAAAA	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64201965	C C	CCGCGTGT others(11): Show CCGCGTGTCGGGAACCCCT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02735.hp2 HG03017.hp1 others(4): Show HG02602.hp2 HG02735.hp2 HG03017.hp1 HG03239.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2	a0001 a0001	a0001c0005 a0001c0017 a0001c0005 a0001c0017	a0001c0005t0001 a0001c0005t0003 a0001c0005t0023 others(1): Show a0001c0005t0001 a0001c0005t0003 a0001c0005t0023 a0001c0017t0002	a0001c0005t0001g0027 a0001c0005t0001g0028 a0001c0005t0003g0025 others(4): Show a0001c0005t0001g0027 a0001c0005t0001g0028 a0001c0005t0003g0025 a0001c0005t0003g0050 a0001c0005t0003g0200 a0001c0005t0023g0026 a0001c0017t0002g0046	7	223	0.0314	18	c.86+ others(33): Show c.86+2060_86+2061insTCGCGTGTCGGGAACCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYZAP_chr15_57586904_57690364	57616822	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01074.hp1 HG01109.hp1 others(8): Show HG00558.hp2 HG01074.hp1 HG01109.hp1 HG02004.hp2 HG02083.hp2 HG03041.hp1 NA18943.hp1 NA18965.hp2 NA19005.hp1 NA19088.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0183 others(8): Show a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0227 a0001c0001t0001g0253 a0001c0001t0001g0339	11	352	0.0313	18	c.163 others(35): Show c.163-1203_163-1186dupTTTTTTTTTTTTTTTTTT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MYZAP_chr15_57586904_57690364	57679340	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	352	0.0028	18	c.130 others(37): Show c.1304+4290_1304+4307dupGTGTGTGTGTGTGTGTGT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
MZF1_chr19_58556932_58578335	58564898	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0162 a0003c0005t0001g0162	1	414	0.0024	18	c.773 others(35): Show c.773-1395_773-1394insAAAAAAAAAAAAAAAAAA	MZF1	ENSG00000099326.9	transcript	ENST00000215057.7	protein_coding	5/5			chr19	TogoVar
MZT1_chr13_72703367_72732629	72724752	A A	ATATATAT others(11): Show ATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01516.hp2 HG01517.hp2 others(3): Show HG01168.hp2 HG01516.hp2 HG01517.hp2 HG02258.hp1 HG02886.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 others(2): Show a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0003g0032 a0001c0001t0003g0111	6	384	0.0156	18	c.79+ others(33): Show c.79+2771_79+2772insCACACATATATATATATA	MZT1	ENSG00000204899.6	transcript	ENST00000377818.4	protein_coding	1/2			chr13	TogoVar
MZT1_chr13_72703367_72732629	72724752	A A	ATATATAT others(11): Show ATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01978.hp1 HG02027.hp2 others(6): Show HG00609.hp2 HG01978.hp1 HG02027.hp2 HG03017.hp1 NA18906.hp2 NA18982.hp2 NA18991.hp1 NA19001.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0003t0001g0098 a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0003t0001g0098	9	384	0.0234	18	c.79+ others(33): Show c.79+2771_79+2772insCACACACACATATATATA	MZT1	ENSG00000204899.6	transcript	ENST00000377818.4	protein_coding	1/2			chr13	TogoVar
MZT1_chr13_72703367_72732629	72724752	A A	ATATATAT others(11): Show ATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19082.hp2 NA19063.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0202 a0001c0001t0001g0203	2	384	0.0052	18	c.79+ others(33): Show c.79+2771_79+2772insCACACACACACATATATA	MZT1	ENSG00000204899.6	transcript	ENST00000377818.4	protein_coding	1/2			chr13	TogoVar
MZT1_chr13_72703367_72732629	72724752	A A	ATATATGT others(11): Show ATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0093 a0001c0003t0001g0093	1	384	0.0026	18	c.79+ others(33): Show c.79+2771_79+2772insCACACACACACACATATA	MZT1	ENSG00000204899.6	transcript	ENST00000377818.4	protein_coding	1/2			chr13	TogoVar
N4BP1_chr16_48533726_48615180	48594001	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0037 a0001c0001t0014g0037	1	324	0.0031	18	c.198 others(37): Show c.198+15773_198+15774insTTTTTTTTTTTTTTTTTT	N4BP1	ENSG00000102921.8	transcript	ENST00000262384.4	protein_coding	1/6			chr16	TogoVar
N4BP2L2_chr13_32505292_32543795	32526818	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03471.hp1 HG03098.hp1 HG03471.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0013 a0003c0004t0013	a0003c0004t0013g0268 a0003c0004t0013g0276 a0003c0004t0013g0268 a0003c0004t0013g0276	2	394	0.0051	18	c.138 others(35): Show c.1384+572_1384+589dupAAAAAAAAAAAAAAAAAA	N4BP2L2	ENSG00000244754.9	transcript	ENST00000267068.6	protein_coding	3/5			chr13	TogoVar
N4BP2_chr4_40051850_40163252	40092007	A A	AAATTATA others(11): Show AAATTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0330	1	366	0.0027	18	c.-11 others(37): Show c.-114-5220_-114-5219insAATTATATATATATATAT	N4BP2	ENSG00000078177.15	transcript	ENST00000261435.11	protein_coding	2/17			chr4	TogoVar
N6AMT1_chr21_28867191_28890367	28889764	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02622.hp1 HG02559.hp1 HG02622.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0001 a0002c0003t0003g0167 a0002c0003t0003g0001 a0002c0003t0003g0167	2	422	0.0047	18	c.-44 others(29): Show c.-4420_-4419insCACACACACACACACACA	N6AMT1	ENSG00000156239.12	transcript	ENST00000303775.10	protein_coding		4398		chr21	TogoVar
NAA11_chr4_79311647_79331061	79314641	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02083.hp1 HG02135.hp2 others(10): Show HG00558.hp2 HG02083.hp1 HG02135.hp2 HG02965.hp2 HG03041.hp2 HG03831.hp2 NA18953.hp1 NA18980.hp1 NA19005.hp1 NA19005.hp2 NA19064.hp1 NA19084.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0052	13	398	0.0327	18	c.31 others(29): Show c.3145_*3162dupTTTTTTTTTTTTTTTTTT	NAA11	ENSG00000156269.5	transcript	ENST00000286794.5	protein_coding		2005		chr4	TogoVar
NAA25_chr12_112021689_112113783	112037275	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	342	0.0029	18	c.264 others(37): Show c.2649+1936_2649+1953dupATATATATATATATATAT	NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	22/23			chr12	TogoVar
NAA25_chr12_112021689_112113783	112086071	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	1	342	0.0029	18	c.402 others(35): Show c.402+1611_402+1612insGTGTGTGTGTGTGTGTGT	NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	4/23			chr12	TogoVar
NAA25_chr12_112021689_112113783	112086073	T T	TATACACA others(11): Show TATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18959.hp2 NA19086.hp1 others(1): Show HG02056.hp2 NA18959.hp2 NA19086.hp1 NA19088.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0007 a0001c0001 a0002c0002 a0006c0007	a0001c0001t0003 a0002c0002t0002 a0006c0007t0003 a0001c0001t0003 a0002c0002t0002 a0006c0007t0003	a0001c0001t0003g0092 a0002c0002t0002g0261 a0002c0002t0002g0266 others(1): Show a0001c0001t0003g0092 a0002c0002t0002g0261 a0002c0002t0002g0266 a0006c0007t0003g0022	4	342	0.0117	18	c.402 others(35): Show c.402+1609_402+1610insGTGTGTGTGTGTGTGTAT	NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	4/23			chr12	TogoVar
NAA25_chr12_112021689_112113783	112086073	T T	TATATACA others(11): Show TATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	342	0.0029	18	c.402 others(35): Show c.402+1609_402+1610insGTGTGTGTGTGTGTATAT	NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	4/23			chr12	TogoVar
NAA25_chr12_112021689_112113783	112086102	A A	ACACACAC others(11): Show ACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02129.hp1 HG02559.hp2 others(14): Show HG01243.hp1 HG02129.hp1 HG02559.hp2 HG02647.hp1 HG03486.hp1 HG03654.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp1 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18982.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0002c0002t0002 a0002c0002t0013	a0001c0001t0003g0020 a0001c0001t0003g0047 a0001c0001t0003g0048 others(14): Show a0001c0001t0003g0020 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0053 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0097 a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0001t0005g0019 a0001c0001t0007g0217 a0002c0002t0002g0259 a0002c0002t0002g0334 a0002c0002t0013g0321	17	342	0.0497	18	c.402 others(35): Show c.402+1580_402+1581insGGTGTGTGTGTGTGTGTG	NAA25	ENSG00000111300.10	transcript	ENST00000261745.9	protein_coding	4/23			chr12	TogoVar
NAA60_chr16_3438680_3491953	3478064	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG02040.hp1 others(14): Show HG01074.hp2 HG01243.hp2 HG02040.hp1 HG02080.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG02886.hp1 HG03710.hp2 NA18941.hp1 NA18959.hp2 NA18974.hp2 NA18978.hp2 NA18980.hp1 NA19055.hp2 NA19077.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 others(3): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0010 a0001c0002t0017 a0003c0004t0002	a0001c0002t0002g0132 a0001c0002t0002g0143 a0001c0002t0002g0158 others(13): Show a0001c0002t0002g0132 a0001c0002t0002g0143 a0001c0002t0002g0158 a0001c0002t0002g0244 a0001c0002t0004g0130 a0001c0002t0004g0154 a0001c0002t0004g0155 a0001c0002t0004g0156 a0001c0002t0004g0226 a0001c0002t0006g0081 a0001c0002t0006g0082 a0001c0002t0006g0107 a0001c0002t0010g0021 a0001c0002t0010g0330 a0001c0002t0017g0026 a0003c0004t0002g0290	17	376	0.0452	18	c.111 others(35): Show c.111-1398_111-1381dupTAATAATAATAATAATAA	NAA60	ENSG00000122390.19	transcript	ENST00000407558.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
NAA80_chr3_50291402_50304405	50304296	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	18	c.-52 others(29): Show c.-5294_-5293insATATATATATTTTTTTTT	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		4892		chr3	TogoVar
NAA80_chr3_50291402_50304405	50304296	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	378	0.0027	18	c.-53 others(29): Show c.-5311_-5294dupATATATATATATATATAT	NAA80	ENSG00000243477.6	transcript	ENST00000443094.3	protein_coding		4892		chr3	TogoVar
NAALAD2_chr11_90129663_90197894	90138725	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0346 a0001c0002t0005g0346	1	364	0.0028	18	c.194 others(35): Show c.194+3072_194+3089dupTTTTTTTTTTTTTTTTTT	NAALAD2	ENSG00000077616.11	transcript	ENST00000534061.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
NAALADL2_chr3_174854334_175815548	174903952	A A	AATATCTA others(11): Show AATATCTATATCTATATCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0030 a0001c0001t0030g0030	1	64	0.0156	18	c.43+ others(35): Show c.43+44517_43+44534dupATCTATATCTATATCTAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175119692	T T	TATATAGA others(11): Show TATATAGATATAGATATAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02615.hp2 others(2): Show HG01167.hp1 HG01169.hp1 HG02615.hp2 HG03453.hp2 NA19043.hp2	a0003 a0004 a0005 others(2): Show a0003 a0004 a0005 a0011 a0016	a0003c0003 a0004c0002 a0005c0006 others(2): Show a0003c0003 a0004c0002 a0005c0006 a0011c0021 a0016c0015	a0003c0003t0004 a0004c0002t0008 a0005c0006t0001 others(2): Show a0003c0003t0004 a0004c0002t0008 a0005c0006t0001 a0011c0021t0003 a0016c0015t0002	a0003c0003t0004g0020 a0004c0002t0008g0006 a0005c0006t0001g0057 others(2): Show a0003c0003t0004g0020 a0004c0002t0008g0006 a0005c0006t0001g0057 a0011c0021t0003g0042 a0016c0015t0002g0005	5	64	0.0781	18	c.545 others(37): Show c.545+22407_545+22424dupGATATAGATATAGATATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAALADL2_chr3_174854334_175815548	175206244	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02615.hp2 HG01109.hp2 HG02615.hp2	a0002 a0011 a0002 a0011	a0002c0005 a0011c0021 a0002c0005 a0011c0021	a0002c0005t0011 a0011c0021t0003 a0002c0005t0011 a0011c0021t0003	a0002c0005t0011g0019 a0011c0021t0003g0042 a0002c0005t0011g0019 a0011c0021t0003g0042	2	64	0.0313	18	c.546 others(37): Show c.546-27685_546-27668dupATATATATATATATATAT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr3	TogoVar

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