Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PARVB_chr22_44019302_44177939	44066780	T T	TCTCCTCC others(8): Show TCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0329 a0001c0001t0068g0329	1	332	0.0030	15	c.113 others(34): Show c.113-27120_113-27106dupCTCCTCCTCCTCCTC	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44066801	C C	CCTCCTCC others(8): Show CCTCCTCCTCCTCCTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0046 a0002c0003t0014g0046	1	332	0.0030	15	c.113 others(34): Show c.113-27113_113-27112insTCTCCTCCTCCTCCT	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151562866	G G	GGGGGGGT others(8): Show GGGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0004 a0004	a0004c0025 a0004c0025	a0004c0025t0002 a0004c0025t0002	a0004c0025t0002g0192 a0004c0025t0002g0192	1	221	0.0045	15	c.-10 others(26): Show c.-1001_-1000insGGGGGGTGGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		808		chrX	TogoVar
PASD1_chrX_151558675_151681739	151562866	G G	GGGGGGTG others(8): Show GGGGGGTGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	221	0.0045	15	c.-10 others(26): Show c.-1001_-1000insGGGGGTGGGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		808		chrX	TogoVar
PASD1_chrX_151558675_151681739	151562871	G G	GTGGGGGG others(8): Show GTGGGGGGGCGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02559.hp1 HG02055.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0003t0007 a0001c0002t0003 a0001c0003t0007	a0001c0002t0003g0203 a0001c0003t0007g0189 a0001c0002t0003g0203 a0001c0003t0007g0189	2	221	0.0091	15	c.-99 others(24): Show c.-996_-995insTGGGGGGGCGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		803		chrX	TogoVar
PASD1_chrX_151558675_151681739	151562914	G G	GCGGGGGG others(8): Show GCGGGGGGCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0155 a0001c0002t0002g0155	1	221	0.0045	15	c.-95 others(24): Show c.-953_-952insCGGGGGGCGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		760		chrX	TogoVar
PASD1_chrX_151558675_151681739	151581227	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG01099.hp1 others(11): Show HG00438.hp1 HG00621.hp1 HG01099.hp1 HG01346.hp1 HG02559.hp2 HG03927.hp2 NA18959.hp1 NA18967.hp1 NA19009.hp1 NA19057.hp1 NA19058.hp1 NA19070.hp1 NA19076.hp1 NA19085.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0004 a0002c0007 others(2): Show a0001c0001 a0002c0004 a0002c0007 a0002c0015 a0007c0016	a0001c0001t0001 a0001c0001t0013 a0002c0004t0003 others(3): Show a0001c0001t0001 a0001c0001t0013 a0002c0004t0003 a0002c0007t0001 a0002c0015t0001 a0007c0016t0001	a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0048 others(11): Show a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0097 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0144 a0001c0001t0001g0219 a0001c0001t0013g0109 a0002c0004t0003g0102 a0002c0007t0001g0095 a0002c0015t0001g0072 a0007c0016t0001g0124	14	221	0.0634	15	c.-28 others(34): Show c.-28+17400_-28+17414dupAAAAAAAAAAAAAAA	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PATJ_chr1_61737480_62168915	61777724	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02717.hp2 HG03130.hp1 others(1): Show HG02145.hp1 HG02717.hp2 HG03130.hp1 NA20129.hp1	a0001 a0045 a0048 others(1): Show a0001 a0045 a0048 a0050	a0001c0046 a0045c0065 a0048c0063 others(1): Show a0001c0046 a0045c0065 a0048c0063 a0050c0044	a0001c0046t0016 a0045c0065t0033 a0048c0063t0027 others(1): Show a0001c0046t0016 a0045c0065t0033 a0048c0063t0027 a0050c0044t0006	a0001c0046t0016g0106 a0045c0065t0033g0043 a0048c0063t0027g0100 others(1): Show a0001c0046t0016g0106 a0045c0065t0033g0043 a0048c0063t0027g0100 a0050c0044t0006g0071	4	158	0.0253	15	c.849 others(32): Show c.849+2393_849+2394insTTTTTTTTTTTCTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	7/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61796675	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01891.hp1 HG01978.hp1 others(2): Show HG00735.hp2 HG01891.hp1 HG01978.hp1 HG02922.hp1 HG02965.hp1	a0002 a0005 a0010 others(1): Show a0002 a0005 a0010 a0052	a0002c0012 a0005c0013 a0010c0005 others(1): Show a0002c0012 a0005c0013 a0010c0005 a0052c0111	a0002c0012t0010 a0005c0013t0015 a0010c0005t0001 others(2): Show a0002c0012t0010 a0005c0013t0015 a0010c0005t0001 a0010c0005t0018 a0052c0111t0021	a0002c0012t0010g0150 a0005c0013t0015g0156 a0010c0005t0001g0129 others(2): Show a0002c0012t0010g0150 a0005c0013t0015g0156 a0010c0005t0001g0129 a0010c0005t0018g0107 a0052c0111t0021g0073	5	158	0.0317	15	c.126 others(32): Show c.1261-609_1261-595dupCTTTCTTTCTTTCTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	10/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61796741	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0034 a0034	a0034c0090 a0034c0090	a0034c0090t0008 a0034c0090t0008	a0034c0090t0008g0018 a0034c0090t0008g0018	1	158	0.0063	15	c.126 others(32): Show c.1261-544_1261-543insCTTTCTTTCTTTCTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	10/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61842766	A A	AAAAAAAA others(8): Show AAAAAAAAAGGAAAAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(109): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02040.hp1 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA18983.hp1 NA18983.hp2 NA18999.hp1 NA18999.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(46): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0029 a0030 a0031 a0032 a0033 a0035 a0036 a0038 a0039 a0042 a0043 a0044 a0045 a0046 a0047 a0050 a0051 a0052 a0057 a0059 a0060 a0061 a0062 a0063	a0001c0001 a0001c0008 a0001c0021 others(97): Show a0001c0001 a0001c0008 a0001c0021 a0001c0022 a0001c0024 a0001c0026 a0001c0046 a0001c0047 a0001c0088 a0001c0092 a0001c0093 a0001c0105 a0002c0012 a0002c0020 a0002c0029 a0002c0030 a0002c0049 a0002c0061 a0002c0095 a0003c0003 a0003c0009 a0003c0055 a0003c0099 a0004c0011 a0004c0045 a0004c0101 a0004c0102 a0005c0006 a0005c0013 a0005c0050 a0005c0107 a0006c0014 a0006c0040 a0006c0068 a0006c0070 a0006c0113 a0006c0114 a0007c0042 a0007c0071 a0007c0072 a0007c0117 a0007c0122 a0007c0123 a0008c0016 a0008c0017 a0008c0041 a0008c0069 a0009c0051 a0009c0054 a0009c0098 a0010c0005 a0010c0023 a0010c0025 a0011c0015 a0011c0126 a0012c0007 a0012c0079 a0013c0004 a0013c0062 a0014c0002 a0016c0036 a0016c0110 a0017c0032 a0017c0033 a0018c0010 a0019c0115 a0020c0127 a0021c0112 a0021c0118 a0022c0018 a0023c0120 a0023c0121 a0024c0076 a0025c0082 a0025c0083 a0026c0134 a0029c0133 a0030c0075 a0031c0130 a0032c0131 a0033c0132 a0035c0089 a0036c0019 a0038c0037 a0039c0109 a0042c0027 a0043c0060 a0044c0028 a0045c0065 a0046c0053 a0047c0108 a0050c0044 a0051c0066 a0052c0111 a0057c0085 a0059c0087 a0060c0077 a0061c0078 a0062c0080 a0063c0081	a0001c0001t0002 a0001c0008t0001 a0001c0021t0001 others(102): Show a0001c0001t0002 a0001c0008t0001 a0001c0021t0001 a0001c0022t0029 a0001c0024t0001 a0001c0026t0001 a0001c0046t0016 a0001c0047t0035 a0001c0088t0010 a0001c0092t0006 a0001c0093t0004 a0001c0105t0006 a0002c0012t0005 a0002c0012t0010 a0002c0020t0025 a0002c0029t0001 a0002c0030t0005 a0002c0049t0004 a0002c0061t0006 a0002c0095t0002 a0003c0003t0003 a0003c0003t0004 a0003c0009t0011 a0003c0055t0004 a0003c0099t0006 a0004c0011t0001 a0004c0045t0002 a0004c0101t0017 a0004c0102t0002 a0005c0006t0001 a0005c0013t0001 a0005c0013t0015 a0005c0050t0026 a0005c0107t0003 a0006c0014t0004 a0006c0040t0023 a0006c0068t0011 a0006c0070t0019 a0006c0113t0003 a0006c0114t0002 a0007c0042t0005 a0007c0071t0005 a0007c0072t0036 a0007c0117t0002 a0007c0122t0002 a0007c0123t0001 a0008c0016t0003 a0008c0017t0004 a0008c0017t0012 a0008c0041t0005 a0008c0069t0003 a0009c0051t0003 a0009c0054t0004 a0009c0098t0004 a0010c0005t0001 a0010c0005t0018 a0010c0023t0007 a0010c0025t0001 a0011c0015t0002 a0011c0126t0002 a0012c0007t0003 a0012c0079t0003 a0013c0004t0001 a0013c0062t0001 a0014c0002t0003 a0016c0036t0028 a0016c0110t0002 a0017c0032t0005 a0017c0033t0006 a0018c0010t0004 a0019c0115t0001 a0020c0127t0008 a0021c0112t0024 a0021c0118t0003 a0022c0018t0004 a0023c0120t0012 a0023c0121t0002 a0024c0076t0001 a0025c0082t0001 a0025c0083t0002 a0026c0134t0002 a0029c0133t0014 a0030c0075t0003 a0031c0130t0001 a0032c0131t0004 a0033c0132t0003 a0035c0089t0004 a0036c0019t0001 a0038c0037t0005 a0039c0109t0001 a0042c0027t0018 a0043c0060t0001 a0044c0028t0002 a0045c0065t0033 a0046c0053t0002 a0047c0108t0001 a0050c0044t0006 a0051c0066t0001 a0052c0111t0021 a0057c0085t0007 a0059c0087t0007 a0060c0077t0032 a0061c0078t0004 a0062c0080t0003 a0063c0081t0031	a0001c0001t0002g0151 a0001c0008t0001g0067 a0001c0021t0001g0113 others(109): Show a0001c0001t0002g0151 a0001c0008t0001g0067 a0001c0021t0001g0113 a0001c0022t0029g0111 a0001c0024t0001g0139 a0001c0026t0001g0116 a0001c0046t0016g0106 a0001c0047t0035g0126 a0001c0088t0010g0016 a0001c0092t0006g0158 a0001c0093t0004g0051 a0001c0105t0006g0004 a0002c0012t0005g0130 a0002c0012t0010g0150 a0002c0020t0025g0112 a0002c0029t0001g0138 a0002c0030t0005g0121 a0002c0049t0004g0029 a0002c0061t0006g0046 a0002c0095t0002g0030 a0003c0003t0003g0094 a0003c0003t0004g0093 a0003c0009t0011g0038 a0003c0055t0004g0087 a0003c0099t0006g0009 a0004c0011t0001g0012 a0004c0011t0001g0152 a0004c0045t0002g0081 a0004c0101t0017g0098 a0004c0102t0002g0031 a0005c0006t0001g0044 a0005c0013t0001g0103 a0005c0013t0015g0156 a0005c0050t0026g0082 a0005c0107t0003g0033 a0006c0014t0004g0053 a0006c0014t0004g0148 a0006c0040t0023g0123 a0006c0068t0011g0097 a0006c0070t0019g0025 a0006c0113t0003g0055 a0006c0114t0002g0157 a0007c0042t0005g0136 a0007c0071t0005g0108 a0007c0072t0036g0042 a0007c0117t0002g0060 a0007c0122t0002g0064 a0007c0123t0001g0017 a0008c0016t0003g0005 a0008c0017t0004g0059 a0008c0017t0012g0022 a0008c0041t0005g0124 a0008c0069t0003g0077 a0009c0051t0003g0092 a0009c0054t0004g0127 a0009c0098t0004g0011 a0010c0005t0001g0129 a0010c0005t0018g0107 a0010c0023t0007g0072 a0010c0025t0001g0140 a0011c0015t0002g0023 a0011c0015t0002g0155 a0011c0126t0002g0026 a0012c0007t0003g0063 a0012c0079t0003g0149 a0013c0004t0001g0028 a0013c0004t0001g0115 a0013c0062t0001g0102 a0014c0002t0003g0084 a0014c0002t0003g0090 a0014c0002t0003g0091 a0016c0036t0028g0145 a0016c0110t0002g0134 a0017c0032t0005g0146 a0017c0033t0006g0120 a0018c0010t0004g0034 a0018c0010t0004g0037 a0019c0115t0001g0007 a0020c0127t0008g0024 a0021c0112t0024g0006 a0021c0118t0003g0021 a0022c0018t0004g0062 a0023c0120t0012g0061 a0023c0121t0002g0068 a0024c0076t0001g0048 a0025c0082t0001g0039 a0025c0083t0002g0050 a0026c0134t0002g0105 a0029c0133t0014g0101 a0030c0075t0003g0089 a0031c0130t0001g0056 a0032c0131t0004g0086 a0033c0132t0003g0027 a0035c0089t0004g0066 a0036c0019t0001g0141 a0038c0037t0005g0135 a0039c0109t0001g0133 a0042c0027t0018g0144 a0043c0060t0001g0128 a0044c0028t0002g0118 a0045c0065t0033g0043 a0046c0053t0002g0058 a0047c0108t0001g0132 a0050c0044t0006g0071 a0051c0066t0001g0131 a0052c0111t0021g0073 a0057c0085t0007g0085 a0059c0087t0007g0075 a0060c0077t0032g0049 a0061c0078t0004g0070 a0062c0080t0003g0032 a0063c0081t0031g0040	112	158	0.7089	15	c.211 others(34): Show c.2112+8993_2112+8994insAAGAAAAAAAAGGAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	17/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61842768	A A	AAAAAAAG others(8): Show AAAAAAAGGAAAAGAG	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02523.hp2 NA18993.hp1 HG02132.hp1 HG02523.hp2 NA18993.hp1	a0001 a0009 a0024 a0001 a0009 a0024	a0001c0048 a0009c0097 a0024c0043 a0001c0048 a0009c0097 a0024c0043	a0001c0048t0009 a0009c0097t0034 a0024c0043t0030 a0001c0048t0009 a0009c0097t0034 a0024c0043t0030	a0001c0048t0009g0080 a0009c0097t0034g0052 a0024c0043t0030g0083 a0001c0048t0009g0080 a0009c0097t0034g0052 a0024c0043t0030g0083	3	158	0.0190	15	c.211 others(34): Show c.2112+8993_2112+8994insAAGAGAAAAAAGGAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	17/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61952279	A A	AGAGAGAG others(8): Show AGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0005 a0002c0012t0005	a0002c0012t0005g0130 a0002c0012t0005g0130	1	158	0.0063	15	c.367 others(36): Show c.3670+24450_3670+24451insGAGAGAGAGAGAGAG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43			chr1	TogoVar
PATJ_chr1_61737480_62168915	61997998	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0040 a0040	a0040c0035 a0040c0035	a0040c0035t0022 a0040c0035t0022	a0040c0035t0022g0117 a0040c0035t0022g0117	1	158	0.0063	15	c.386 others(34): Show c.3867+7634_3867+7635insTATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43			chr1	TogoVar
PATJ_chr1_61737480_62168915	62036871	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01934.hp2 HG02040.hp1 others(10): Show HG01081.hp2 HG01934.hp2 HG02040.hp1 HG02602.hp1 HG02717.hp1 HG03209.hp1 HG03669.hp2 HG03927.hp2 HG04204.hp2 NA18983.hp1 NA18999.hp2 NA19030.hp2 NA19060.hp2	a0001 a0003 a0006 others(5): Show a0001 a0003 a0006 a0008 a0016 a0017 a0046 a0060	a0001c0001 a0001c0008 a0001c0092 others(8): Show a0001c0001 a0001c0008 a0001c0092 a0001c0105 a0003c0009 a0006c0014 a0008c0017 a0016c0110 a0017c0033 a0046c0053 a0060c0077	a0001c0001t0002 a0001c0008t0001 a0001c0092t0006 others(9): Show a0001c0001t0002 a0001c0008t0001 a0001c0092t0006 a0001c0105t0006 a0003c0009t0011 a0006c0014t0004 a0008c0017t0004 a0008c0017t0012 a0016c0110t0002 a0017c0033t0006 a0046c0053t0002 a0060c0077t0032	a0001c0001t0002g0076 a0001c0008t0001g0067 a0001c0092t0006g0158 others(10): Show a0001c0001t0002g0076 a0001c0008t0001g0067 a0001c0092t0006g0158 a0001c0105t0006g0004 a0003c0009t0011g0038 a0006c0014t0004g0053 a0006c0014t0004g0148 a0008c0017t0004g0059 a0008c0017t0012g0022 a0016c0110t0002g0134 a0017c0033t0006g0120 a0046c0053t0002g0058 a0060c0077t0032g0049	13	158	0.0823	15	c.396 others(34): Show c.3960-1096_3960-1095insAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62143438	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0007 a0007	a0007c0072 a0007c0072	a0007c0072t0036 a0007c0072t0036	a0007c0072t0036g0042 a0007c0072t0036g0042	1	158	0.0063	15	c.527 others(34): Show c.5272-4830_5272-4816dupTTTTTTTTTTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62144771	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA20129.hp1 HG00639.hp1 NA20129.hp1	a0013 a0048 a0013 a0048	a0013c0062 a0048c0063 a0013c0062 a0048c0063	a0013c0062t0001 a0048c0063t0027 a0013c0062t0001 a0048c0063t0027	a0013c0062t0001g0102 a0048c0063t0027g0100 a0013c0062t0001g0102 a0048c0063t0027g0100	2	158	0.0127	15	c.527 others(34): Show c.5272-3513_5272-3512insTATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43			chr1	TogoVar
PATL1_chr11_59631716_59674037	59652064	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02970.hp2 NA18939.hp2 others(1): Show HG01361.hp2 HG02970.hp2 NA18939.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0185 others(1): Show a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186	4	276	0.0145	15	c.142 others(32): Show c.1426+385_1426+399dupTTTTTTTTTTTTTTT	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding	11/18			chr11	TogoVar
PAWR_chr12_79579879_79695964	79638896	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0135 a0001c0003t0027g0135	1	256	0.0039	15	c.517 others(34): Show c.517-17690_517-17689insATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAWR_chr12_79579879_79695964	79639911	C C	CATTCCAT others(8): Show CATTCCATTCCATTCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0253 a0002c0002t0001g0253	1	256	0.0039	15	c.517 others(34): Show c.517-18705_517-18704insAGAATGGAATGGAAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX1_chr20_21700664_21723481	21713376	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0065 a0001c0001t0017g0065	1	400	0.0025	15	c.128 others(34): Show c.1283-1095_1283-1094insGTGTGTGTGTGTGTG	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding	4/4			chr20	TogoVar
PAX2_chr10_100740582_100834944	100769624	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02818.hp2 HG03139.hp1 others(1): Show HG00733.hp1 HG02818.hp2 HG03139.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0040 a0001c0002t0044 a0001c0002t0013 a0001c0002t0040 a0001c0002t0044	a0001c0002t0013g0091 a0001c0002t0013g0092 a0001c0002t0040g0184 others(1): Show a0001c0002t0013g0091 a0001c0002t0013g0092 a0001c0002t0040g0184 a0001c0002t0044g0181	4	232	0.0172	15	c.411 others(32): Show c.411-9873_411-9872insAAATAAAATAAAATA	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX2_chr10_100740582_100834944	100769626	G G	GAATAAAA others(8): Show GAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG02055.hp2 others(1): Show HG00140.hp2 HG01074.hp2 HG02055.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0013 a0001c0001t0001 a0001c0001t0002 a0001c0002t0013	a0001c0001t0001g0022 a0001c0001t0002g0079 a0001c0001t0002g0080 others(1): Show a0001c0001t0001g0022 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0002t0013g0118	4	232	0.0172	15	c.411 others(32): Show c.411-9839_411-9825dupTAAAATAAAATAAAA	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAX3_chr2_222194887_222303998	222209696	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19078.hp2 NA18995.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0158 a0001c0001t0003g0168 a0001c0001t0003g0158 a0001c0001t0003g0168	2	328	0.0061	15	c.117 others(34): Show c.1174-7521_1174-7507dupTTTTTTTTTTTTTTT	PAX3	ENSG00000135903.20	transcript	ENST00000392070.7	protein_coding	7/8			chr2	TogoVar
PAX5_chr9_36828269_37039268	36973083	C C	CGGAACGG others(8): Show CGGAACGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0112 a0001c0002t0009g0112	1	274	0.0037	15	c.605 others(32): Show c.605-6360_605-6359insTTTCCTTTCCGTTCC	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36973135	A A	AAAAGGAA others(8): Show AAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0062 a0001c0002t0006g0062	1	274	0.0037	15	c.605 others(32): Show c.605-6426_605-6412dupCCTTTCCTTTCCTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	37003154	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	274	0.0037	15	c.476 others(30): Show c.476-393_476-379dupTTTTTTTTTTTTTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	4/9			chr9	TogoVar
PAX7_chr1_18625846_18753866	18681691	A A	ATTTATTT others(8): Show ATTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02145.hp2 HG02886.hp1 others(1): Show HG01081.hp1 HG02145.hp2 HG02886.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0035 a0001c0001t0003g0051 a0001c0001t0003g0052 others(1): Show a0001c0001t0001g0035 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0002t0001g0220	4	302	0.0133	15	c.587 others(34): Show c.587-10014_587-10000dupATTTTATTTTATTTT	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX9_chr14_36656860_36684362	36672852	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG06807.hp2 HG01261.hp1 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0015 a0002c0002t0006 a0002c0002t0015	a0002c0002t0006g0302 a0002c0002t0015g0297 a0002c0002t0006g0302 a0002c0002t0015g0297	2	446	0.0045	15	c.772 others(32): Show c.772-3330_772-3316dupTTTTTTTTTTTTTTT	PAX9	ENSG00000198807.13	transcript	ENST00000361487.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr14	TogoVar
PBRM1_chr3_52540367_52690913	52542619	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG01106.hp1 others(29): Show HG00438.hp2 HG00597.hp1 HG01106.hp1 HG01928.hp2 HG01981.hp2 HG02071.hp1 HG02129.hp1 HG02257.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG03098.hp2 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG04204.hp2 NA18942.hp1 NA18957.hp1 NA18980.hp2 NA19003.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19058.hp1 NA19079.hp2 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0002c0009t0017	a0001c0001t0001g0132 a0001c0001t0002g0002 a0001c0001t0002g0003 others(29): Show a0001c0001t0001g0132 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0061 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0107 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0005g0146 a0001c0001t0015g0004 a0002c0009t0017g0137	32	300	0.1067	15	c.54 others(26): Show c.5429_*5443dupTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding		2747		chr3	TogoVar
PBRM1_chr3_52540367_52690913	52584450	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0285 a0001c0004t0004g0285	1	300	0.0033	15	c.343 others(34): Show c.3432+1960_3432+1974dupAAAAAAAAAAAAAAA	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	22/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52596436	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02559.hp2 HG02922.hp2 HG01243.hp2 HG02559.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0139	3	300	0.0100	15	c.282 others(34): Show c.2824+7070_2824+7084dupTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	19/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52612258	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01074.hp1 HG01106.hp2 others(32): Show HG00609.hp2 HG01074.hp1 HG01106.hp2 HG01169.hp2 HG01243.hp1 HG01978.hp1 HG01993.hp2 HG02109.hp1 HG02129.hp2 HG02155.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp1 HG02818.hp1 HG03195.hp1 HG03471.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 NA18944.hp2 NA18947.hp2 NA18961.hp1 NA18979.hp2 NA18980.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19068.hp1 NA19077.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0018 a0001c0003t0001 a0001c0003t0016	a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0001g0162 others(32): Show a0001c0002t0001g0154 a0001c0002t0001g0156 a0001c0002t0001g0162 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0212 a0001c0002t0001g0214 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0230 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0298 a0001c0002t0003g0198 a0001c0002t0003g0200 a0001c0002t0003g0202 a0001c0002t0003g0248 a0001c0002t0009g0299 a0001c0002t0018g0247 a0001c0003t0001g0238 a0001c0003t0001g0239 a0001c0003t0016g0236	35	300	0.1167	15	c.197 others(34): Show c.1970-2318_1970-2304dupTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	17/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19057.hp1 NA18942.hp2 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0159 a0001c0002t0001g0193 a0001c0002t0001g0159 a0001c0002t0001g0193	2	300	0.0067	15	c.108 others(34): Show c.1088-1957_1088-1943dupTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52637773	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01081.hp1 HG01516.hp1 others(16): Show HG01069.hp1 HG01081.hp1 HG01516.hp1 HG01517.hp2 HG02015.hp1 HG02040.hp2 HG02155.hp1 HG02683.hp1 HG03491.hp1 NA18957.hp2 NA18967.hp2 NA18971.hp2 NA18980.hp1 NA18982.hp2 NA19011.hp1 NA19056.hp2 NA19065.hp1 NA19077.hp1 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0162 a0001c0002t0001g0167 others(16): Show a0001c0002t0001g0155 a0001c0002t0001g0162 a0001c0002t0001g0167 a0001c0002t0001g0172 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0195 a0001c0002t0001g0204 a0001c0002t0001g0207 a0001c0002t0001g0210 a0001c0002t0001g0224 a0001c0002t0001g0243 a0001c0002t0001g0246 a0001c0002t0001g0288	19	300	0.0633	15	c.108 others(34): Show c.1088-2973_1088-2959dupTTTTTTTTTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBX1_chr1_164554184_164856831	164682862	T T	TTCCTTGC others(8): Show TTCCTTGCAGATGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(105): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00621.hp1 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18980.hp1 NA18984.hp1 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19043.hp2 NA19085.hp1 NA19085.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0023 a0001c0001t0029 a0001c0001t0033 a0001c0001t0035 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0010 a0002c0002t0014 a0002c0002t0024 a0002c0002t0025 a0002c0002t0027	a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0031 others(105): Show a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0057 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0117 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0002g0006 a0001c0001t0002g0016 a0001c0001t0002g0055 a0001c0001t0002g0063 a0001c0001t0002g0077 a0001c0001t0002g0090 a0001c0001t0002g0113 a0001c0001t0002g0118 a0001c0001t0002g0132 a0001c0001t0002g0142 a0001c0001t0002g0153 a0001c0001t0002g0168 a0001c0001t0002g0175 a0001c0001t0004g0039 a0001c0001t0004g0053 a0001c0001t0004g0056 a0001c0001t0004g0079 a0001c0001t0004g0112 a0001c0001t0004g0156 a0001c0001t0004g0183 a0001c0001t0005g0059 a0001c0001t0005g0078 a0001c0001t0006g0005 a0001c0001t0006g0013 a0001c0001t0007g0020 a0001c0001t0007g0051 a0001c0001t0007g0086 a0001c0001t0009g0152 a0001c0001t0010g0072 a0001c0001t0011g0019 a0001c0001t0012g0040 a0001c0001t0012g0073 a0001c0001t0015g0036 a0001c0001t0016g0038 a0001c0001t0017g0083 a0001c0001t0017g0088 a0001c0001t0018g0116 a0001c0001t0021g0159 a0001c0001t0023g0071 a0001c0001t0029g0120 a0001c0001t0033g0041 a0001c0001t0035g0076 a0001c0001t0038g0022 a0001c0001t0040g0104 a0001c0001t0041g0087 a0001c0003t0003g0033 a0002c0002t0001g0028 a0002c0002t0001g0042 a0002c0002t0001g0046 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0110 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0133 a0002c0002t0001g0135 a0002c0002t0001g0137 a0002c0002t0001g0146 a0002c0002t0001g0160 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0002g0003 a0002c0002t0002g0049 a0002c0002t0002g0092 a0002c0002t0002g0099 a0002c0002t0002g0105 a0002c0002t0002g0111 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0145 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0003g0043 a0002c0002t0003g0068 a0002c0002t0003g0102 a0002c0002t0003g0125 a0002c0002t0003g0129 a0002c0002t0003g0169 a0002c0002t0010g0066 a0002c0002t0010g0095 a0002c0002t0014g0067 a0002c0002t0024g0001 a0002c0002t0025g0114 a0002c0002t0027g0091	108	184	0.5870	15	c.266 others(36): Show c.266-109623_266-109609dupGATGGGATCCTTGCA	PBX1	ENSG00000185630.20	transcript	ENST00000420696.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PBX3_chr9_125742373_125972377	125793366	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18939.hp2 NA18979.hp1 HG03471.hp2 NA18939.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0074 a0001c0001t0002g0077 a0001c0001t0002g0083	3	294	0.0102	15	c.274 others(34): Show c.274+44743_274+44744insTATATATATATATAT	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8			chr9	TogoVar
PBX3_chr9_125742373_125972377	125943352	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	294	0.0034	15	c.843 others(32): Show c.843+7778_843+7792dupAAAAAAAAAAAAAAA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX4_chr19_19556713_19623687	19605416	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG01515.hp1 others(10): Show HG00280.hp2 HG00642.hp2 HG01515.hp1 HG03831.hp1 NA18942.hp1 NA18964.hp1 NA18978.hp2 NA18983.hp2 NA19002.hp2 NA19010.hp2 NA19058.hp1 NA19086.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0195 others(10): Show a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0222 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0279 a0001c0001t0001g0286	13	376	0.0346	15	c.120 others(32): Show c.120-6066_120-6052dupATTATTATTATTATT	PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding	1/7			chr19	TogoVar
PCBP2_chr12_53447102_53486162	53477665	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	348	0.0029	15	c.105 others(34): Show c.1053-1726_1053-1712dupAAAAAAAAAAAAAAA	PCBP2	ENSG00000197111.16	transcript	ENST00000546463.6	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCBP2_chr12_53447102_53486162	53479668	C C	CTGGTTTT others(8): Show CTGGTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02145.hp1 others(3): Show HG01167.hp1 HG01169.hp2 HG02145.hp1 HG02257.hp2 HG02723.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0007g0282 others(3): Show a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0007g0282 a0001c0001t0007g0283 a0001c0001t0007g0284 a0001c0001t0007g0285	6	348	0.0172	15	c.22 others(24): Show c.227_*241dupTGGTTTTTTTTTTTT	PCBP2	ENSG00000197111.16	transcript	ENST00000546463.6	protein_coding	15/15	242	INFO_REALIGN_3_PRIME	chr12	TogoVar
PCBP2_chr12_53447102_53486162	53479672	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03579.hp1 others(1): Show HG03209.hp1 HG03471.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0036 a0001c0001t0009g0169 a0001c0001t0009g0229 a0001c0001t0009g0036 a0001c0001t0009g0169 a0001c0001t0009g0229	4	348	0.0115	15	c.24 others(24): Show c.241_*242insTTGGTTTTTTTTTTT	PCBP2	ENSG00000197111.16	transcript	ENST00000546463.6	protein_coding	15/15	242	INFO_REALIGN_3_PRIME	chr12	TogoVar
PCBP3_chr21_45638725_45947450	45646093	C C	CTCTCTCT others(8): Show CTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	292	0.0034	15	c.-27 others(34): Show c.-279+2226_-279+2240dupTCTCTCTCTCTCTCT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45762491	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02040.hp2 HG03490.hp2 others(4): Show HG00673.hp1 HG02040.hp2 HG03490.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0024 a0001c0001t0002 a0001c0001t0005 a0001c0001t0024	a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0249 others(4): Show a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0249 a0001c0001t0002g0253 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0024g0236	7	292	0.0240	15	c.-12 others(34): Show c.-126+7041_-126+7055dupTTTTTTTTTTTTTTT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45815630	G G	GAGTGGTG others(8): Show GAGTGGTGAGTGGTGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp2 HG01257.hp2 others(5): Show HG00639.hp1 HG01192.hp2 HG01257.hp2 HG01358.hp2 HG01928.hp1 HG01981.hp1 HG02273.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 others(5): Show a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206	8	292	0.0274	15	c.-12 others(36): Show c.-125-34331_-125-34330insAGTGGTGAGTGGTGA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45835882	A A	AGCCCCAG others(8): Show AGCCCCAGGGGAACAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	292	0.0034	15	c.-12 others(36): Show c.-125-14070_-125-14056dupGGAACAGGCCCCAGG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45919863	A A	ATGTGTGT others(8): Show ATGTGTGTGGCAGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02486.hp2 others(2): Show HG02055.hp2 HG02257.hp2 HG02486.hp2 HG02976.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0002t0009	a0001c0001t0003g0263 a0001c0001t0004g0002 a0001c0001t0019g0224 others(2): Show a0001c0001t0003g0263 a0001c0001t0004g0002 a0001c0001t0019g0224 a0001c0002t0009g0215 a0001c0002t0009g0285	5	292	0.0171	15	c.717 others(32): Show c.717+2239_717+2253dupTGTGGCAGGGGTGTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45934797	C C	CCAGTGGT others(8): Show CCAGTGGTGTCTCCTG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	292	0.0034	15	c.857 others(30): Show c.857-455_857-441dupCAGTGGTGTCTCCTG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCCA_chr13_100084093_100535435	100188294	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG02258.hp2 others(11): Show HG00099.hp1 HG00621.hp1 HG02258.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp2 HG04199.hp2 NA18959.hp2 NA18984.hp1 NA18999.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0091 others(11): Show a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0170 a0001c0001t0002g0174	14	174	0.0805	15	c.469 others(34): Show c.469-21018_469-21004dupCAAAACAAAACAAAA	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100292959	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	174	0.0058	15	c.106 others(34): Show c.1066-8500_1066-8499insGTGTGTGTGTGTGTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar

Search by Variant

Search

Search Results