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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CRYBG1_chr6_106355717_106577017	106375413	G G	GTAAATAA others(1): Show GTAAATAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00673.hp1 others(15): Show HG00408.hp1 HG00438.hp1 HG00673.hp1 HG01074.hp1 HG01255.hp2 HG01928.hp2 HG02004.hp1 HG02004.hp2 HG02135.hp2 HG02165.hp1 HG02886.hp1 NA18612.hp2 NA18946.hp1 NA18971.hp1 NA19009.hp1 NA19062.hp2 NA19068.hp1 NA19091.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0016	a0001c0001 a0001c0009 a0003c0002 others(2): Show a0001c0001 a0001c0009 a0003c0002 a0006c0005 a0016c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0014 a0001c0009t0001 a0003c0002t0001 a0003c0002t0005 a0006c0005t0004 a0016c0016t0001	a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0003g0077 a0001c0001t0005g0011 a0001c0001t0005g0022 a0001c0001t0014g0076 a0001c0009t0001g0023 a0003c0002t0001g0014 a0003c0002t0001g0029 a0003c0002t0001g0037 a0003c0002t0005g0013 a0003c0002t0005g0031 a0006c0005t0004g0024 a0016c0016t0001g0136	18	272	0.0662	8	c.173 others(27): Show c.173+14335_173+14336insATAAATAA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106422321	G G	GTTATTTA others(1): Show GTTATTTAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp2 HG02895.hp2 others(4): Show HG02145.hp1 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG03486.hp2 NA19043.hp1 NA20300.hp2	a0003 a0010 a0011 others(3): Show a0003 a0010 a0011 a0019 a0020 a0052	a0003c0038 a0010c0012 a0011c0015 others(3): Show a0003c0038 a0010c0012 a0011c0015 a0019c0040 a0020c0019 a0052c0055	a0003c0038t0007 a0010c0012t0002 a0011c0015t0003 others(3): Show a0003c0038t0007 a0010c0012t0002 a0011c0015t0003 a0019c0040t0001 a0020c0019t0001 a0052c0055t0001	a0003c0038t0007g0144 a0010c0012t0002g0272 a0011c0015t0003g0241 others(4): Show a0003c0038t0007g0144 a0010c0012t0002g0272 a0011c0015t0003g0241 a0011c0015t0003g0242 a0019c0040t0001g0112 a0020c0019t0001g0073 a0052c0055t0001g0050	7	272	0.0257	8	c.174 others(27): Show c.174-29354_174-29347dupATTTATTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106483356	T T	TTGTGTGT others(1): Show TTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01928.hp2 NA19012.hp2 HG00558.hp2 HG01928.hp2 NA19012.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0011 a0006c0005 a0001c0001 a0002c0011 a0006c0005	a0001c0001t0001 a0002c0011t0003 a0006c0005t0004 a0001c0001t0001 a0002c0011t0003 a0006c0005t0004	a0001c0001t0001g0035 a0002c0011t0003g0002 a0006c0005t0004g0024 a0001c0001t0001g0035 a0002c0011t0003g0002 a0006c0005t0004g0024	3	272	0.0110	8	c.313 others(27): Show c.313-28058_313-28051dupGTGTGTGT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106518975	G G	GCACACAC others(1): Show GCACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp2 HG00642.hp2 others(67): Show HG00558.hp2 HG00597.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01243.hp2 HG01255.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01928.hp2 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02622.hp2 HG02717.hp1 HG02886.hp1 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp1 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18956.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18978.hp2 NA18983.hp1 NA18993.hp1 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19077.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(13): Show a0001 a0006 a0007 a0010 a0012 a0016 a0026 a0027 a0029 a0035 a0043 a0050 a0051 a0058 a0061 a0063	a0001c0001 a0001c0009 a0001c0024 others(15): Show a0001c0001 a0001c0009 a0001c0024 a0006c0005 a0007c0007 a0010c0012 a0012c0014 a0016c0016 a0026c0065 a0027c0072 a0029c0066 a0035c0062 a0043c0036 a0050c0028 a0051c0033 a0058c0068 a0061c0070 a0063c0046	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0009t0001 a0001c0009t0004 a0001c0024t0001 a0006c0005t0001 a0006c0005t0004 a0007c0007t0003 a0007c0007t0004 a0010c0012t0002 a0012c0014t0001 a0016c0016t0001 a0026c0065t0011 a0027c0072t0001 a0029c0066t0001 a0035c0062t0015 a0043c0036t0001 a0050c0028t0002 a0051c0033t0002 a0058c0068t0001 a0061c0070t0004 a0063c0046t0004	a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 others(67): Show a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0001t0001g0184 a0001c0001t0001g0198 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0209 a0001c0001t0004g0067 a0001c0001t0004g0168 a0001c0001t0014g0076 a0001c0009t0001g0023 a0001c0009t0001g0046 a0001c0009t0001g0172 a0001c0009t0004g0164 a0001c0024t0001g0197 a0001c0024t0001g0206 a0006c0005t0001g0064 a0006c0005t0004g0024 a0006c0005t0004g0039 a0007c0007t0003g0072 a0007c0007t0003g0210 a0007c0007t0003g0270 a0007c0007t0004g0109 a0007c0007t0004g0188 a0010c0012t0002g0226 a0010c0012t0002g0231 a0010c0012t0002g0272 a0012c0014t0001g0034 a0012c0014t0001g0180 a0012c0014t0001g0183 a0012c0014t0001g0257 a0016c0016t0001g0136 a0016c0016t0001g0174 a0016c0016t0001g0264 a0026c0065t0011g0141 a0027c0072t0001g0254 a0029c0066t0001g0191 a0035c0062t0015g0232 a0043c0036t0001g0247 a0050c0028t0002g0091 a0051c0033t0002g0248 a0058c0068t0001g0159 a0061c0070t0004g0139 a0063c0046t0004g0155	70	272	0.2574	8	c.192 others(25): Show c.1923-147_1923-140dupCACACACA	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG1_chr6_106355717_106577017	106566464	C C	CTTTTTTT others(1): Show CTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02572.hp1 others(3): Show HG01884.hp2 HG01891.hp2 HG02572.hp1 HG03139.hp2 NA18747.hp2 NA18906.hp1	a0002 a0005 a0007 others(2): Show a0002 a0005 a0007 a0039 a0060	a0002c0011 a0005c0006 a0007c0007 others(2): Show a0002c0011 a0005c0006 a0007c0007 a0039c0050 a0060c0054	a0002c0011t0003 a0005c0006t0008 a0007c0007t0003 others(2): Show a0002c0011t0003 a0005c0006t0008 a0007c0007t0003 a0039c0050t0003 a0060c0054t0008	a0002c0011t0003g0057 a0005c0006t0008g0161 a0005c0006t0008g0269 others(3): Show a0002c0011t0003g0057 a0005c0006t0008g0161 a0005c0006t0008g0269 a0007c0007t0003g0266 a0039c0050t0003g0190 a0060c0054t0008g0196	6	272	0.0221	8	c.630 others(27): Show c.6302-1990_6302-1983dupTTTTTTTT	CRYBG1	ENSG00000112297.18	transcript	ENST00000633556.3	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
CRYBG2_chr1_26316865_26359130	26333014	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00741.hp1 others(12): Show HG00099.hp2 HG00140.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01346.hp1 HG01515.hp2 HG01516.hp2 HG02004.hp2 HG02015.hp1 HG02976.hp2 HG03927.hp2 NA18522.hp2 NA18966.hp2 NA18971.hp1	a0001 a0010 a0015 a0001 a0010 a0015	a0001c0003 a0001c0019 a0001c0021 others(3): Show a0001c0003 a0001c0019 a0001c0021 a0001c0034 a0010c0013 a0015c0045	a0001c0003t0001 a0001c0003t0002 a0001c0019t0002 others(4): Show a0001c0003t0001 a0001c0003t0002 a0001c0019t0002 a0001c0021t0001 a0001c0034t0001 a0010c0013t0002 a0015c0045t0001	a0001c0003t0001g0041 a0001c0003t0001g0188 a0001c0003t0001g0189 others(11): Show a0001c0003t0001g0041 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0311 a0001c0003t0002g0121 a0001c0003t0002g0246 a0001c0003t0002g0270 a0001c0003t0002g0320 a0001c0019t0002g0239 a0001c0021t0001g0025 a0001c0034t0001g0040 a0010c0013t0002g0300 a0015c0045t0001g0131	15	376	0.0399	8	c.418 others(27): Show c.4185-1404_4185-1397dupTTTTTTTT	CRYBG2	ENSG00000176092.17	transcript	ENST00000308182.10	protein_coding	14/19			chr1	TogoVar
CRYBG3_chr3_97817011_97949984	97841192	G G	GTGTATAT others(1): Show GTGTATATA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01168.hp2 others(4): Show HG01070.hp1 HG01074.hp1 HG01168.hp2 HG01169.hp1 HG01981.hp2 NA20752.hp1 NA20805.hp2	a0001 a0019 a0001 a0019	a0001c0003 a0019c0033 a0001c0003 a0019c0033	a0001c0003t0002 a0019c0033t0002 a0001c0003t0002 a0019c0033t0002	a0001c0003t0002g0030 a0001c0003t0002g0202 a0001c0003t0002g0203 others(3): Show a0001c0003t0002g0030 a0001c0003t0002g0202 a0001c0003t0002g0203 a0001c0003t0002g0204 a0001c0003t0002g0256 a0019c0033t0002g0170	7	316	0.0222	8	c.150 others(25): Show c.150-1979_150-1972dupATGTATAT	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr3	TogoVar
CRYBG3_chr3_97817011_97949984	97946586	G G	GTATATAT others(1): Show GTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA18939.hp2 NA18945.hp1 others(2): Show HG02622.hp2 NA18939.hp2 NA18945.hp1 NA19058.hp2 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0002 a0001c0004t0002 a0001c0003t0002 a0001c0004t0002	a0001c0003t0002g0198 a0001c0003t0002g0212 a0001c0004t0002g0033 others(1): Show a0001c0003t0002g0198 a0001c0003t0002g0212 a0001c0004t0002g0033 a0001c0004t0002g0250	5	316	0.0158	8	c.32 others(19): Show c.3272_*3273insTATATATA	CRYBG3	ENSG00000080200.10	transcript	ENST00000389622.7	protein_coding		1603		chr3	TogoVar
CRYGC_chr2_208123137_208134828	208133789	C C	CTTTTTTT others(1): Show CTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00558.hp2 others(90): Show HG00140.hp2 HG00323.hp1 HG00558.hp2 HG00597.hp1 HG00642.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01928.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18949.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18977.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19054.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19068.hp2 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19085.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0002t0001g0005 a0001c0003t0001g0008	93	444	0.2095	8	c.-39 others(19): Show c.-3998_-3997insAAAAAAAA	CRYGC	ENSG00000163254.5	transcript	ENST00000282141.4	protein_coding		3962		chr2	TogoVar
CRYGN_chr7_151423832_151445141	151441920	T T	TACACACA others(1): Show TACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01515.hp2 HG01516.hp2 others(13): Show HG01346.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02965.hp1 HG03239.hp2 HG03471.hp1 HG04199.hp1 NA18955.hp2 NA18962.hp2 NA18982.hp2 NA18986.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0003g0005 a0001c0001t0003g0063 others(3): Show a0001c0001t0001g0003 a0001c0001t0003g0005 a0001c0001t0003g0063 a0001c0001t0014g0036 a0001c0003t0001g0030 a0001c0003t0001g0090	16	452	0.0354	8	c.-20 others(19): Show c.-2004_-2003insGTGTGTGT	CRYGN	ENSG00000127377.10	transcript	ENST00000337323.3	protein_coding		1780		chr7	TogoVar
CRYL1_chr13_20398669_20530857	20420700	G G	GTTTTTTT others(1): Show GTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG02922.hp1 others(2): Show HG02145.hp2 HG02572.hp1 HG02922.hp1 HG03041.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0091 a0001c0001t0002g0070 a0001c0002t0001g0215 others(2): Show a0001c0001t0001g0091 a0001c0001t0002g0070 a0001c0002t0001g0215 a0001c0003t0002g0013 a0001c0003t0002g0014	5	250	0.0200	8	c.634 others(25): Show c.634-7314_634-7313insAAAAAAAA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	5/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20420701	T T	TTTTGTGT others(1): Show TTTTGTGTG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18957.hp2 NA18981.hp2 others(2): Show NA18953.hp1 NA18957.hp2 NA18981.hp2 NA19009.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0002 a0001c0003t0002 a0001c0001t0002 a0001c0002t0002 a0001c0003t0002	a0001c0001t0002g0106 a0001c0001t0002g0221 a0001c0002t0002g0220 others(2): Show a0001c0001t0002g0106 a0001c0001t0002g0221 a0001c0002t0002g0220 a0001c0003t0002g0044 a0001c0003t0002g0045	5	250	0.0200	8	c.634 others(25): Show c.634-7315_634-7314insCACACAAA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	5/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20421785	C C	CATTTATT others(1): Show CATTTATTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02723.hp1 others(7): Show HG02559.hp1 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp1 NA19043.hp1 NA19062.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002	a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0002g0199 others(7): Show a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0002g0199 a0001c0002t0001g0190 a0001c0002t0001g0210 a0001c0002t0001g0215 a0001c0002t0002g0203 a0001c0003t0001g0023 a0001c0003t0002g0015 a0001c0004t0002g0025	10	250	0.0400	8	c.634 others(25): Show c.634-8406_634-8399dupAAATAAAT	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	5/7			chr13	TogoVar
CRYL1_chr13_20398669_20530857	20466682	C C	CTGTGTGT others(1): Show CTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp2 others(58): Show HG00099.hp1 HG00140.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01167.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01891.hp1 HG01975.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02155.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 NA18522.hp1 NA18963.hp2 NA18970.hp2 NA18984.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19062.hp2 NA19067.hp1 NA19081.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0002 a0001c0006t0001	a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0038 others(57): Show a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0137 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0002g0062 a0001c0001t0002g0140 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0200 a0001c0001t0002g0217 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0240 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0082 a0001c0002t0001g0116 a0001c0002t0001g0127 a0001c0002t0001g0146 a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0190 a0001c0002t0001g0208 a0001c0002t0001g0212 a0001c0002t0001g0215 a0001c0002t0001g0219 a0001c0002t0001g0222 a0001c0002t0001g0239 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0084 a0001c0002t0002g0131 a0001c0002t0002g0157 a0001c0002t0002g0160 a0001c0002t0002g0203 a0001c0003t0001g0008 a0001c0003t0001g0009 a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0002g0011 a0001c0003t0002g0015 a0001c0003t0003g0247 a0001c0004t0002g0025 a0001c0006t0001g0080	61	250	0.2440	8	c.276 others(27): Show c.276+22680_276+22687dupCACACACA	CRYL1	ENSG00000165475.15	transcript	ENST00000298248.12	protein_coding	3/7			chr13	TogoVar
CRYZL1_chr21_33584341_33646741	33600932	A A	ATGTTTTT others(1): Show ATGTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG00621.hp2 others(88): Show HG00544.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01109.hp1 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp2 HG03927.hp1 HG03942.hp1 HG04204.hp1 HG04204.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp1 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18984.hp2 NA18990.hp1 NA18991.hp2 NA19000.hp2 NA19002.hp2 NA19011.hp2 NA19030.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0027 others(86): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0332 a0001c0001t0001g0342 a0001c0001t0002g0023 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0058 a0001c0001t0002g0073 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0114 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0138 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0148 a0001c0001t0002g0156 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301	91	360	0.2528	8	c.577 others(25): Show c.577+1301_577+1302insAAAAAACA	CRYZL1	ENSG00000205758.12	transcript	ENST00000381554.8	protein_coding	8/12			chr21	TogoVar
CRYZ_chr1_74700486_74738050	74702929	A A	AGTGTGTG others(1): Show AGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00597.hp2 others(36): Show HG00323.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp2 HG02135.hp1 HG02135.hp2 HG02486.hp2 HG02572.hp2 HG02602.hp1 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG03486.hp1 HG03491.hp2 HG04199.hp2 NA18944.hp1 NA18946.hp1 NA18952.hp2 NA18970.hp2 NA18978.hp1 NA18985.hp2 NA18991.hp1 NA19001.hp1 NA19074.hp1 NA19077.hp2 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0007 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0006t0001 a0002c0002t0001 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0034 a0001c0001t0001g0165 a0001c0001t0001g0201 others(31): Show a0001c0001t0001g0034 a0001c0001t0001g0165 a0001c0001t0001g0201 a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0007g0043 a0001c0006t0001g0087 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0025 a0002c0002t0001g0050 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0001g0060 a0002c0002t0001g0067 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0090 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0102 a0002c0002t0001g0108 a0002c0002t0001g0111 a0002c0003t0001g0237 a0002c0003t0001g0250 a0002c0003t0001g0252 a0002c0003t0001g0255 a0002c0003t0001g0265 a0002c0003t0002g0131	39	372	0.1048	8	c.33 others(19): Show c.3366_*3367insACACACAC	CRYZ	ENSG00000116791.14	transcript	ENST00000340866.10	protein_coding		2556		chr1	TogoVar
CRYZ_chr1_74700486_74738050	74702963	T T	TGTGTGTG others(1): Show TGTGTGTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02622.hp1 HG03490.hp2 others(1): Show HG01361.hp1 HG02622.hp1 HG03490.hp2 NA18972.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0002c0004	a0001c0001t0001 a0001c0006t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0006t0002 a0002c0002t0001 a0002c0004t0003	a0001c0001t0001g0018 a0001c0006t0002g0047 a0002c0002t0001g0084 others(1): Show a0001c0001t0001g0018 a0001c0006t0002g0047 a0002c0002t0001g0084 a0002c0004t0003g0246	4	372	0.0108	8	c.33 others(19): Show c.3332_*3333insGCACACAC	CRYZ	ENSG00000116791.14	transcript	ENST00000340866.10	protein_coding		2522		chr1	TogoVar
CSAD_chr12_53152663_53185925	53184114	G G	GGTGTGTG others(1): Show GGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03579.hp2 HG04228.hp1 others(7): Show HG02970.hp2 HG03579.hp2 HG04228.hp1 NA18939.hp2 NA18948.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp2 NA18997.hp1 NA19082.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0019 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0080 a0001c0001t0001g0128 a0001c0001t0002g0059 a0001c0001t0004g0007 a0001c0001t0007g0029 a0005c0007t0001g0088	10	334	0.0299	8	c.-34 others(19): Show c.-3481_-3474dupACACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3190		chr12	TogoVar
CSAD_chr12_53152663_53185925	53184150	T T	TGTGTGCG others(1): Show TGTGTGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 NA18906.hp1 NA18965.hp1 HG03927.hp2 NA18906.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0005 a0001c0001t0001 a0001c0001t0002 a0001c0003t0005	a0001c0001t0001g0001 a0001c0001t0002g0060 a0001c0003t0005g0117 a0001c0001t0001g0001 a0001c0001t0002g0060 a0001c0003t0005g0117	3	334	0.0090	8	c.-35 others(19): Show c.-3510_-3509insGCGCACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3226		chr12	TogoVar
CSAD_chr12_53152663_53185925	53184150	T T	TGTGTGTG others(1): Show TGTGTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG03041.hp1 HG03492.hp1 others(3): Show HG02083.hp1 HG03041.hp1 HG03492.hp1 NA18990.hp2 NA19003.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0077 a0001c0001t0001g0085 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0001t0001g0130	6	334	0.0180	8	c.-35 others(19): Show c.-3510_-3509insGCACACAC	CSAD	ENSG00000139631.20	transcript	ENST00000444623.6	protein_coding		3226		chr12	TogoVar
CSAG2_chrX_152703261_152714273	152709587	C C	CAGAGAGA others(1): Show CAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG02976.hp1 HG03654.hp1 others(5): Show HG00408.hp1 HG02976.hp1 HG03654.hp1 HG03669.hp2 HG03831.hp1 NA18963.hp2 NA18984.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009	8	211	0.0379	8	c.-48 others(17): Show c.-483_-476dupCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		315		chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709605	A A	AAGAGAGA others(1): Show AAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02922.hp1 HG03209.hp1 others(1): Show HG02818.hp1 HG02922.hp1 HG03209.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0001c0001t0001g0001 a0002c0002t0001g0002	4	211	0.0190	8	c.-50 others(17): Show c.-501_-494dupCTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		333		chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709629	G G	GAGAGAGA others(1): Show GAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG02738.hp1 NA18906.hp2 others(6): Show HG01361.hp1 HG02738.hp1 NA18906.hp2 NA18939.hp2 NA18948.hp1 NA18965.hp1 NA19010.hp1 NA19067.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0004g0008 a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0004g0008	9	211	0.0427	8	c.-51 others(17): Show c.-518_-517insTTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		357		chrX	TogoVar
CSAG2_chrX_152703261_152714273	152709631	G G	GAGAGAGA others(1): Show GAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA19065.hp1 NA19084.hp1 NA18997.hp1 NA19065.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	211	0.0142	8	c.-52 others(17): Show c.-520_-519insTTCTCTCT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		359		chrX	TogoVar
CSAG2_chrX_152703261_152714273	152710758	C C	CAATAGCT others(1): Show CAATAGCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0016 a0003c0006t0001g0016	1	211	0.0047	8	c.-16 others(19): Show c.-1654_-1647dupAAGCTATT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		1486		chrX	TogoVar
CSAG2_chrX_152703261_152714273	152710821	G G	GATATATA others(1): Show GATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	211	0.0047	8	c.-17 others(19): Show c.-1717_-1710dupATATATAT	CSAG2	ENSG00000268902.4	transcript	ENST00000638741.2	protein_coding		1549		chrX	TogoVar
CSDC2_chr22_41556010_41581666	41561045	G G	GACACACA others(1): Show GACACACAC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG02027.hp2 others(18): Show HG00280.hp2 HG00639.hp2 HG02027.hp2 HG02071.hp1 HG03195.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03704.hp1 HG03942.hp2 NA18747.hp2 NA18969.hp2 NA18975.hp2 NA18982.hp1 NA18984.hp1 NA19000.hp1 NA19030.hp2 NA19074.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0024 others(1): Show a0001c0001t0006 a0001c0001t0010 a0001c0001t0024 a0001c0001t0038	a0001c0001t0006g0006 a0001c0001t0006g0008 a0001c0001t0006g0039 others(16): Show a0001c0001t0006g0006 a0001c0001t0006g0008 a0001c0001t0006g0039 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0010g0008 a0001c0001t0010g0017 a0001c0001t0010g0044 a0001c0001t0010g0045 a0001c0001t0010g0046 a0001c0001t0010g0047 a0001c0001t0010g0061 a0001c0001t0024g0071 a0001c0001t0024g0115 a0001c0001t0024g0130 a0001c0001t0038g0035	21	288	0.0729	8	c.-23 others(17): Show c.-232_-225dupCACACACA	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/4	10883	INFO_REALIGN_3_PRIME	chr22	TogoVar
CSDC2_chr22_41556010_41581666	41562406	C C	CAAAAAAA others(1): Show CAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00621.hp2 others(53): Show HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp2 HG02071.hp1 HG02148.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02683.hp2 HG02976.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18747.hp2 NA18969.hp2 NA18975.hp2 NA18982.hp1 NA18994.hp2 NA19074.hp1 NA19087.hp1 NA19240.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(11): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0033 a0001c0001t0035 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0008 others(41): Show a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0016 a0001c0001t0003g0018 a0001c0001t0003g0036 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0006g0006 a0001c0001t0006g0008 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0043 a0001c0001t0006g0056 a0001c0001t0006g0057 a0001c0001t0010g0008 a0001c0001t0010g0044 a0001c0001t0010g0045 a0001c0001t0010g0046 a0001c0001t0010g0047 a0001c0001t0015g0019 a0001c0001t0016g0005 a0001c0001t0016g0052 a0001c0001t0017g0006 a0001c0001t0017g0033 a0001c0001t0017g0050 a0001c0001t0023g0058 a0001c0001t0023g0059 a0001c0001t0026g0077 a0001c0001t0027g0194 a0001c0001t0027g0197 a0001c0001t0033g0055 a0001c0001t0035g0199 a0001c0001t0044g0083 a0001c0001t0045g0051 a0001c0001t0048g0018	56	288	0.1944	8	c.-12 others(27): Show c.-124+1231_-124+1238dupAAAAAAAA	CSDC2	ENSG00000172346.15	transcript	ENST00000306149.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
CSE1L_chr20_49041312_49101949	49065313	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 HG02572.hp2 others(5): Show HG01243.hp2 HG02257.hp2 HG02572.hp2 HG02683.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0200 a0001c0001t0002g0022 a0001c0001t0002g0025 others(5): Show a0001c0001t0001g0200 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0090 a0001c0001t0002g0094 a0001c0001t0002g0095	8	386	0.0207	8	c.229 others(23): Show c.229-859_229-852dupTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49065586	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG01192.hp2 others(23): Show HG00558.hp1 HG00609.hp2 HG01192.hp2 HG01261.hp1 HG01943.hp1 HG01975.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02273.hp2 HG02717.hp1 HG03831.hp2 HG04184.hp2 NA18612.hp1 NA18939.hp2 NA18941.hp1 NA18952.hp1 NA18963.hp2 NA18964.hp2 NA18974.hp2 NA18985.hp2 NA18987.hp1 NA18991.hp1 NA18999.hp1 NA19057.hp2 NA19089.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 others(23): Show a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0217 a0002c0003t0001g0145 a0002c0003t0001g0159 a0002c0003t0001g0160 a0002c0003t0001g0204 a0002c0003t0001g0221	26	386	0.0674	8	c.229 others(23): Show c.229-587_229-580dupTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49074176	A A	AGTGTGTG others(1): Show AGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00673.hp1 others(27): Show HG00423.hp1 HG00423.hp2 HG00673.hp1 HG00741.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02257.hp1 HG02273.hp1 HG03491.hp2 NA18951.hp2 NA18960.hp1 NA18970.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18999.hp2 NA19012.hp1 NA19056.hp1 NA19070.hp1 NA19074.hp2 NA19083.hp1 NA19086.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0009 a0006c0006 a0001c0001 a0001c0009 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0002 a0006c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0101 a0001c0001t0001g0102 others(26): Show a0001c0001t0001g0006 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0219 a0001c0001t0001g0303 a0001c0001t0002g0002 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0009t0002g0036 a0006c0006t0001g0126	30	386	0.0777	8	c.106 others(25): Show c.1067-574_1067-567dupGTGTGTGT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49085562	A A	ATTTTTTT others(1): Show ATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01516.hp2 HG02027.hp2 others(22): Show HG00733.hp2 HG01516.hp2 HG02027.hp2 HG02071.hp2 HG02258.hp1 HG02258.hp2 HG02602.hp1 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02897.hp2 NA18522.hp1 NA18939.hp1 NA18940.hp1 NA18946.hp2 NA18966.hp2 NA18986.hp2 NA19000.hp2 NA19054.hp2 NA19074.hp1 NA19079.hp1 NA19088.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0238 a0001c0002t0001g0242 others(20): Show a0001c0002t0001g0001 a0001c0002t0001g0238 a0001c0002t0001g0242 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0330 a0001c0002t0001g0333 a0001c0002t0001g0335 a0001c0002t0001g0340 a0001c0002t0001g0343 a0001c0002t0001g0344 a0001c0002t0001g0345 a0001c0002t0001g0349 a0001c0002t0001g0353 a0001c0002t0001g0356 a0001c0002t0001g0357 a0001c0002t0001g0358 a0001c0002t0001g0359 a0001c0002t0001g0360 a0001c0002t0001g0363 a0001c0002t0001g0366 a0001c0002t0001g0371 a0001c0002t0001g0376	25	386	0.0648	8	c.172 others(25): Show c.1723+196_1723+203dupTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr20	TogoVar
CSE1L_chr20_49041312_49101949	49097938	A A	ATTTTTTT others(1): Show ATTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00621.hp2 HG01074.hp2 others(25): Show HG00609.hp1 HG00621.hp2 HG01074.hp2 HG01346.hp1 HG01433.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02132.hp2 HG02148.hp1 HG02572.hp2 HG02897.hp1 HG03017.hp2 HG03239.hp2 HG03471.hp2 HG03834.hp2 NA18964.hp1 NA18968.hp2 NA18974.hp1 NA18979.hp2 NA18983.hp2 NA18998.hp2 NA19011.hp2 NA19030.hp1 NA19057.hp1 NA19070.hp2 NA19086.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0018 others(24): Show a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0095 a0001c0001t0002g0097	28	386	0.0725	8	c.15 others(19): Show c.1500_*1501insTTTTTTTT	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding		990		chr20	TogoVar
CSE1L_chr20_49041312_49101949	49100467	C C	CTTTATTT others(1): Show CTTTATTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01981.hp1 HG02273.hp2 others(8): Show HG01884.hp2 HG01981.hp1 HG02273.hp2 HG03491.hp1 HG03492.hp1 NA18940.hp2 NA18974.hp2 NA19057.hp2 NA19081.hp2 NA19082.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0141 a0001c0001t0001g0164 a0001c0001t0001g0176 others(8): Show a0001c0001t0001g0141 a0001c0001t0001g0164 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0196 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0297 a0001c0001t0001g0302 a0002c0003t0001g0142 a0002c0003t0001g0165	11	386	0.0285	8	c.40 others(19): Show c.4029_*4030insTTTATTTA	CSE1L	ENSG00000124207.17	transcript	ENST00000262982.3	protein_coding		3519		chr20	TogoVar
CSF1R_chr5_150048295_150091554	150074842	T T	TACACACA others(1): Show TACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01496.hp1 others(14): Show HG01069.hp2 HG01071.hp1 HG01496.hp1 HG01884.hp2 HG02109.hp2 HG02145.hp1 HG02615.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG03453.hp2 HG03516.hp1 NA18949.hp1 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0006 a0002c0003 others(3): Show a0001c0002 a0001c0006 a0002c0003 a0002c0008 a0003c0007 a0003c0015	a0001c0002t0003 a0001c0006t0004 a0002c0003t0004 others(6): Show a0001c0002t0003 a0001c0006t0004 a0002c0003t0004 a0002c0008t0001 a0003c0007t0001 a0003c0007t0003 a0003c0007t0006 a0003c0007t0013 a0003c0015t0003	a0001c0002t0003g0157 a0001c0006t0004g0081 a0002c0003t0004g0312 others(13): Show a0001c0002t0003g0157 a0001c0006t0004g0081 a0002c0003t0004g0312 a0002c0008t0001g0011 a0002c0008t0001g0381 a0003c0007t0001g0383 a0003c0007t0003g0253 a0003c0007t0003g0295 a0003c0007t0003g0385 a0003c0007t0003g0390 a0003c0007t0006g0388 a0003c0007t0013g0223 a0003c0007t0013g0384 a0003c0007t0013g0389 a0003c0015t0003g0086 a0003c0015t0003g0306	17	406	0.0419	8	c.890 others(25): Show c.890-1357_890-1350dupGTGTGTGT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	5/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150083349	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01169.hp1 others(1): Show HG01109.hp2 HG01167.hp1 HG01169.hp1 NA18986.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0019 a0001c0001 a0002c0003 a0002c0019	a0001c0001t0006 a0002c0003t0001 a0002c0019t0001 a0001c0001t0006 a0002c0003t0001 a0002c0019t0001	a0001c0001t0006g0131 a0001c0001t0006g0201 a0002c0003t0001g0349 others(1): Show a0001c0001t0006g0131 a0001c0001t0006g0201 a0002c0003t0001g0349 a0002c0019t0001g0336	4	406	0.0099	8	c.50- others(23): Show c.50-2333_50-2326dupGTGTGTGT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084343	A A	AAAAGAAA others(1): Show AAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG01978.hp1 others(10): Show HG00639.hp1 HG01069.hp1 HG01978.hp1 HG02132.hp1 HG02148.hp1 HG03225.hp1 HG03831.hp1 HG06807.hp1 NA18955.hp1 NA18960.hp1 NA18995.hp2 NA19074.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003	a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 others(5): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0001c0004t0003 a0001c0004t0022 a0001c0006t0002 a0002c0003t0001 a0002c0003t0003	a0001c0001t0002g0127 a0001c0001t0002g0243 a0001c0002t0001g0143 others(10): Show a0001c0001t0002g0127 a0001c0001t0002g0243 a0001c0002t0001g0143 a0001c0002t0001g0198 a0001c0002t0001g0200 a0001c0002t0005g0343 a0001c0004t0003g0144 a0001c0004t0022g0299 a0001c0006t0002g0199 a0002c0003t0001g0344 a0002c0003t0001g0348 a0002c0003t0001g0357 a0002c0003t0003g0337	13	406	0.0320	8	c.49+ others(23): Show c.49+2028_49+2035dupCTTTCTTT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084373	A A	AAGAAAGA others(1): Show AAGAAAGAC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18968.hp2 NA19003.hp1 others(1): Show NA18965.hp2 NA18968.hp2 NA19003.hp1 NA19088.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0009 a0001c0004t0010g0248 a0001c0004t0010g0276 a0001c0004t0010g0009 a0001c0004t0010g0248 a0001c0004t0010g0276	4	406	0.0099	8	c.49+ others(23): Show c.49+2005_49+2006insGTCTTTCT	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1R_chr5_150048295_150091554	150084390	A A	AGAAAGAA others(1): Show AGAAAGAAG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01952.hp1 HG02615.hp2 others(4): Show HG01433.hp1 HG01952.hp1 HG02615.hp2 HG03704.hp1 HG04204.hp2 NA18960.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 others(3): Show a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0003 a0001c0004t0003 a0001c0005t0001	a0001c0001t0002g0121 a0001c0001t0007g0285 a0001c0002t0001g0193 others(4): Show a0001c0001t0002g0121 a0001c0001t0007g0285 a0001c0002t0001g0193 a0001c0002t0003g0118 a0001c0004t0003g0120 a0001c0004t0003g0192 a0001c0005t0001g0119	7	406	0.0172	8	c.49+ others(23): Show c.49+1988_49+1989insCTTCTTTC	CSF1R	ENSG00000182578.14	transcript	ENST00000675795.1	protein_coding	1/20			chr5	TogoVar
CSF1_chr1_109905849_109935992	109919927	A A	AAAATAAA others(1): Show AAAATAAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01123.hp1 HG03669.hp1 HG00738.hp2 HG01123.hp1 HG03669.hp1	a0002 a0008 a0002 a0008	a0002c0005 a0008c0024 a0002c0005 a0008c0024	a0002c0005t0003 a0008c0024t0001 a0002c0005t0003 a0008c0024t0001	a0002c0005t0003g0036 a0002c0005t0003g0122 a0008c0024t0001g0036 a0002c0005t0003g0036 a0002c0005t0003g0122 a0008c0024t0001g0036	3	434	0.0069	8	c.397 others(25): Show c.397-1876_397-1869dupTAAATAAA	CSF1	ENSG00000184371.14	transcript	ENST00000329608.11	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
CSF2RA_chrX_1263814_1314935	1276360	A A	ATATTTAT others(1): Show ATATTTATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(62): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00639.hp1 HG01081.hp2 HG01169.hp1 HG01175.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02897.hp2 HG02976.hp1 HG03041.hp2 HG03453.hp1 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 NA18522.hp2 NA18906.hp2 NA18943.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18973.hp2 NA18982.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19081.hp2 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0007 others(15): Show a0001c0001 a0001c0002 a0001c0007 a0001c0014 a0001c0015 a0002c0003 a0002c0004 a0002c0006 a0003c0009 a0003c0020 a0004c0010 a0005c0008 a0006c0013 a0007c0017 a0009c0021 a0010c0011 a0011c0022 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0008 a0001c0007t0002 a0001c0014t0005 a0001c0015t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0003t0005 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0006t0005 a0003c0009t0002 a0003c0020t0005 a0004c0010t0003 a0005c0008t0001 a0005c0008t0007 a0006c0013t0003 a0007c0017t0001 a0009c0021t0004 a0010c0011t0010 a0011c0022t0004 a0012c0012t0004	a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 others(62): Show a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0002g0026 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0102 a0001c0001t0003g0087 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0097 a0001c0001t0003g0148 a0001c0001t0003g0151 a0001c0001t0004g0065 a0001c0001t0004g0072 a0001c0001t0004g0094 a0001c0001t0004g0154 a0001c0001t0004g0159 a0001c0001t0015g0027 a0001c0002t0001g0077 a0001c0002t0001g0103 a0001c0002t0003g0080 a0001c0002t0004g0083 a0001c0002t0004g0132 a0001c0002t0005g0134 a0001c0002t0005g0135 a0001c0002t0008g0082 a0001c0007t0002g0128 a0001c0014t0005g0150 a0001c0015t0003g0081 a0002c0003t0001g0144 a0002c0003t0001g0147 a0002c0003t0002g0140 a0002c0003t0002g0141 a0002c0003t0002g0145 a0002c0003t0002g0149 a0002c0003t0002g0157 a0002c0003t0004g0088 a0002c0003t0004g0131 a0002c0003t0005g0146 a0002c0004t0004g0023 a0002c0004t0005g0130 a0002c0004t0007g0152 a0002c0006t0005g0028 a0003c0009t0002g0142 a0003c0020t0005g0129 a0004c0010t0003g0158 a0005c0008t0001g0138 a0005c0008t0007g0139 a0006c0013t0003g0153 a0007c0017t0001g0143 a0009c0021t0004g0074 a0010c0011t0010g0054 a0011c0022t0004g0073 a0012c0012t0004g0089	65	159	0.4088	8	c.-27 others(25): Show c.-27+1556_-27+1563dupATTTATTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	2/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1293221	G G	GTTTGTTT others(1): Show GTTTGTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp2 HG02922.hp1 HG03225.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0002 a0003c0009t0002 a0001c0001t0002 a0003c0009t0002	a0001c0001t0002g0061 a0003c0009t0002g0104 a0001c0001t0002g0061 a0003c0009t0002g0104	2	159	0.0126	8	c.647 others(25): Show c.647-1100_647-1099insCTTTGTTT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	7/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1304245	A A	AAAAAATA others(1): Show AAAAAATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(111): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG01070.hp2 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18961.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18998.hp2 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19063.hp1 NA19064.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19087.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012	a0001c0001 a0001c0002 a0001c0007 others(16): Show a0001c0001 a0001c0002 a0001c0007 a0001c0014 a0001c0015 a0002c0003 a0002c0004 a0002c0006 a0002c0019 a0003c0009 a0003c0020 a0004c0010 a0005c0008 a0006c0013 a0007c0017 a0008c0016 a0009c0021 a0011c0022 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0007t0001 a0001c0007t0002 a0001c0014t0005 a0001c0015t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0005 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0002c0006t0002 a0002c0019t0002 a0003c0009t0002 a0003c0020t0005 a0004c0010t0003 a0004c0010t0006 a0005c0008t0001 a0005c0008t0007 a0006c0013t0003 a0007c0017t0001 a0008c0016t0009 a0009c0021t0004 a0011c0022t0004 a0012c0012t0004	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(111): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0121 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0051 a0001c0001t0002g0061 a0001c0001t0002g0071 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0117 a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0093 a0001c0001t0004g0049 a0001c0001t0004g0094 a0001c0001t0004g0114 a0001c0001t0004g0154 a0001c0001t0004g0159 a0001c0001t0005g0155 a0001c0001t0008g0120 a0001c0001t0012g0062 a0001c0001t0014g0043 a0001c0002t0001g0052 a0001c0002t0001g0077 a0001c0002t0001g0103 a0001c0002t0002g0018 a0001c0002t0002g0112 a0001c0002t0003g0035 a0001c0002t0003g0059 a0001c0002t0003g0080 a0001c0002t0003g0111 a0001c0002t0003g0119 a0001c0002t0003g0122 a0001c0002t0004g0037 a0001c0002t0004g0038 a0001c0002t0004g0042 a0001c0002t0004g0050 a0001c0002t0004g0058 a0001c0002t0004g0063 a0001c0002t0004g0083 a0001c0002t0004g0098 a0001c0002t0004g0110 a0001c0002t0004g0132 a0001c0002t0005g0040 a0001c0002t0005g0123 a0001c0002t0005g0134 a0001c0002t0005g0135 a0001c0002t0006g0039 a0001c0002t0008g0082 a0001c0002t0009g0011 a0001c0007t0001g0106 a0001c0007t0002g0128 a0001c0014t0005g0150 a0001c0015t0003g0081 a0002c0003t0001g0003 a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0144 a0002c0003t0001g0147 a0002c0003t0002g0005 a0002c0003t0002g0029 a0002c0003t0002g0140 a0002c0003t0002g0141 a0002c0003t0002g0145 a0002c0003t0002g0149 a0002c0003t0005g0010 a0002c0003t0005g0137 a0002c0004t0003g0109 a0002c0004t0004g0023 a0002c0004t0005g0125 a0002c0004t0005g0127 a0002c0004t0005g0130 a0002c0004t0007g0152 a0002c0006t0002g0126 a0002c0019t0002g0006 a0003c0009t0002g0104 a0003c0009t0002g0142 a0003c0020t0005g0129 a0004c0010t0003g0158 a0004c0010t0006g0033 a0005c0008t0001g0138 a0005c0008t0007g0139 a0006c0013t0003g0153 a0007c0017t0001g0143 a0008c0016t0009g0015 a0009c0021t0004g0074 a0011c0022t0004g0073 a0012c0012t0004g0089	114	159	0.7170	8	c.104 others(25): Show c.1043+232_1043+233insATAAAAAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1311352	G G	GTGTTACA others(1): Show GTGTTACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	159	0.0063	8	c.18 others(19): Show c.1873_*1874insTGTTACAT	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding		1418		chrX	TogoVar
CSF2RB_chr22_36908628_36945439	36912881	C C	CTCATTCA others(1): Show CTCATTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG01243.hp1 others(4): Show HG00558.hp2 HG00642.hp2 HG01243.hp1 HG02735.hp1 HG03017.hp2 NA18995.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0001c0033 others(1): Show a0001c0001 a0001c0004 a0001c0033 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0004t0002 a0001c0033t0024 a0004c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0002g0210 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0002g0210 a0001c0001t0010g0199 a0001c0004t0002g0053 a0001c0033t0024g0047 a0004c0008t0001g0054	7	360	0.0194	8	c.-96 others(17): Show c.-969_-968insTCATTCAT	CSF2RB	ENSG00000100368.15	transcript	ENST00000403662.8	protein_coding		746		chr22	TogoVar
CSF2RB_chr22_36908628_36945439	36943743	A A	AGTGTGTG others(1): Show AGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01884.hp2 HG01981.hp2 others(16): Show HG01255.hp2 HG01884.hp2 HG01981.hp2 HG02055.hp1 HG02293.hp2 HG02300.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG03195.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 NA19065.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0006 a0002c0007 a0002c0015 a0003c0034 a0004c0008 a0007c0018 a0008c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0018 a0001c0002t0002 a0001c0003t0002 a0001c0005t0008 a0002c0006t0005 a0002c0007t0005 a0002c0015t0002 a0003c0034t0002 a0004c0008t0002 a0007c0018t0002 a0008c0016t0002	a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0029 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0003g0003 a0001c0001t0018g0004 a0001c0002t0002g0011 a0001c0003t0002g0048 a0001c0003t0002g0108 a0001c0005t0008g0016 a0002c0006t0005g0049 a0002c0007t0005g0226 a0002c0015t0002g0067 a0003c0034t0002g0148 a0004c0008t0002g0021 a0007c0018t0002g0136 a0007c0018t0002g0196 a0008c0016t0002g0173	19	360	0.0528	8	c.52 others(19): Show c.5241_*5242insGTGTGTGT	CSF2RB	ENSG00000100368.15	transcript	ENST00000403662.8	protein_coding		3305		chr22	TogoVar
CSF3_chr17_40010440_40022813	40019175	A A	AACACACA others(1): Show AACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02165.hp2 HG02698.hp2 others(5): Show HG02148.hp1 HG02165.hp2 HG02698.hp2 HG03225.hp2 HG03239.hp2 HG03688.hp2 HG03942.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	8	434	0.0184	8	c.22 others(19): Show c.2216_*2217insACACACAC	CSF3	ENSG00000108342.13	transcript	ENST00000394149.8	protein_coding		1363		chr17	TogoVar
CSF3_chr17_40010440_40022813	40019203	C C	CACACACA others(1): Show CACACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00642.hp1 others(84): Show HG00140.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02602.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp2 NA18959.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18998.hp1 NA19001.hp2 NA19003.hp1 NA19010.hp2 NA19063.hp1 NA19068.hp1 NA19070.hp2 NA19077.hp2 NA19081.hp2 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0011g0001	87	434	0.2005	8	c.22 others(19): Show c.2244_*2245insACACACAT	CSF3	ENSG00000108342.13	transcript	ENST00000394149.8	protein_coding		1391		chr17	TogoVar
CSGALNACT1_chr8_19399161_19762277	19408949	A A	AACACACA others(1): Show AACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 NA18992.hp2 HG02809.hp1 HG02886.hp2 NA18992.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0036 a0003c0005t0004 a0001c0001t0036 a0003c0005t0004	a0001c0001t0036g0225 a0003c0005t0004g0094 a0003c0005t0004g0184 a0001c0001t0036g0225 a0003c0005t0004g0094 a0003c0005t0004g0184	3	238	0.0126	8	c.122 others(25): Show c.1228-263_1228-256dupGTGTGTGT	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	7/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19513411	T T	TCTCTCTC others(1): Show TCTCTCTCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01884.hp2 HG02145.hp1 others(4): Show HG00140.hp2 HG01884.hp2 HG02145.hp1 HG03139.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0004 a0003c0005 a0001c0002 a0002c0004 a0003c0005	a0001c0002t0004 a0001c0002t0008 a0001c0002t0025 others(3): Show a0001c0002t0004 a0001c0002t0008 a0001c0002t0025 a0001c0002t0044 a0002c0004t0005 a0003c0005t0004	a0001c0002t0004g0095 a0001c0002t0004g0158 a0001c0002t0008g0237 others(4): Show a0001c0002t0004g0095 a0001c0002t0004g0158 a0001c0002t0008g0237 a0001c0002t0025g0001 a0001c0002t0044g0186 a0002c0004t0005g0015 a0003c0005t0004g0007	7	238	0.0294	8	c.-29 others(27): Show c.-296-7282_-296-7281insTGAGAGAG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	2/8			chr8	TogoVar

Search by Variant

Search

Search Results