Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
AADACL3_chr1_12711110_12733760	12716215	C C	A A	stop_gained stop_gained	HIGH	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp1 HG01361.hp1 HG01515.hp2 HG01891.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG02004.hp1 HG02027.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02451.hp1 HG02523.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp2 HG02895.hp1 HG02976.hp2 HG03139.hp1 HG03516.hp2 HG03654.hp1 HG04199.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp2 NA19006.hp2 NA19011.hp1 NA19012.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0004 a0002c0018 others(4): Show a0002c0003 a0002c0004 a0002c0018 a0002c0019 a0002c0020 a0002c0021 a0002c0022	a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 others(11): Show a0002c0003t0003 a0002c0003t0005 a0002c0003t0038 a0002c0004t0002 a0002c0004t0024 a0002c0004t0026 a0002c0004t0040 a0002c0018t0003 a0002c0018t0045 a0002c0019t0017 a0002c0020t0002 a0002c0020t0041 a0002c0021t0025 a0002c0022t0002	a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 others(26): Show a0002c0003t0003g0004 a0002c0003t0003g0005 a0002c0003t0003g0135 a0002c0003t0005g0005 a0002c0003t0005g0035 a0002c0003t0005g0071 a0002c0003t0005g0083 a0002c0003t0005g0085 a0002c0003t0005g0144 a0002c0003t0038g0005 a0002c0004t0002g0006 a0002c0004t0002g0011 a0002c0004t0002g0020 a0002c0004t0002g0030 a0002c0004t0002g0058 a0002c0004t0002g0072 a0002c0004t0002g0088 a0002c0004t0002g0090 a0002c0004t0002g0136 a0002c0004t0024g0006 a0002c0004t0026g0030 a0002c0004t0040g0011 a0002c0018t0003g0005 a0002c0018t0045g0086 a0002c0019t0017g0007 a0002c0020t0002g0020 a0002c0020t0041g0020 a0002c0021t0025g0084 a0002c0022t0002g0020	73	430	0.1698	0	c.39C others(2): Show c.39C>A	p.Cys others(3): Show p.Cys13*	AADACL3	ENSG00000188984.12	transcript	ENST00000359318.8	protein_coding	1/4	106/4055	39/1224	13/407		chr1	TogoVar
ABCA10_chr17_69143007_69233824	69154324	C C	CACCTGGA others(1): Show CACCTGGAA	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00639.hp1 HG01069.hp1 HG01071.hp1 others(33): Show HG00639.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01361.hp2 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0005 a0006 a0007 a0005 a0006 a0007	a0005c0005 a0006c0007 a0006c0016 others(1): Show a0005c0005 a0006c0007 a0006c0016 a0007c0008	a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 others(4): Show a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004 a0007c0008t0004 a0007c0008t0007	a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(32): Show a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0217 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0223 a0005c0005t0004g0241 a0005c0005t0004g0262 a0005c0005t0015g0218 a0006c0007t0004g0114 a0006c0007t0004g0186 a0006c0007t0004g0187 a0006c0007t0004g0189 a0006c0007t0004g0190 a0006c0007t0004g0192 a0006c0007t0004g0193 a0006c0007t0004g0196 a0006c0007t0010g0336 a0006c0007t0010g0337 a0006c0007t0010g0338 a0006c0016t0004g0188 a0006c0016t0004g0191 a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0331 a0007c0008t0007g0332 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335	36	346	0.1040	8	c.369 others(19): Show c.3695-6_3696dupTTCCAGGT	p.Glu others(6): Show p.Glu1233fs	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	31/39	4252/6008	3696/4632	1232/1543		chr17	TogoVar
ABCA10_chr17_69143007_69233824	69193976	AAT AAT	A A	frameshift_variant frameshift_variant	HIGH	HG00639.hp1 HG01069.hp1 HG01071.hp1 others(34): Show HG00639.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01243.hp1 HG01361.hp2 HG02055.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0005 a0006 a0007 others(1): Show a0005 a0006 a0007 a0015	a0005c0005 a0006c0007 a0006c0016 others(2): Show a0005c0005 a0006c0007 a0006c0016 a0007c0008 a0015c0029	a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 others(5): Show a0005c0005t0004 a0005c0005t0015 a0006c0007t0004 a0006c0007t0010 a0006c0016t0004 a0007c0008t0004 a0007c0008t0007 a0015c0029t0014	a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 others(33): Show a0005c0005t0004g0185 a0005c0005t0004g0200 a0005c0005t0004g0214 a0005c0005t0004g0215 a0005c0005t0004g0216 a0005c0005t0004g0217 a0005c0005t0004g0219 a0005c0005t0004g0220 a0005c0005t0004g0221 a0005c0005t0004g0222 a0005c0005t0004g0223 a0005c0005t0004g0241 a0005c0005t0004g0262 a0005c0005t0015g0218 a0006c0007t0004g0114 a0006c0007t0004g0186 a0006c0007t0004g0187 a0006c0007t0004g0189 a0006c0007t0004g0190 a0006c0007t0004g0192 a0006c0007t0004g0193 a0006c0007t0004g0196 a0006c0007t0010g0336 a0006c0007t0010g0337 a0006c0007t0010g0338 a0006c0016t0004g0188 a0006c0016t0004g0191 a0007c0008t0004g0197 a0007c0008t0007g0009 a0007c0008t0007g0330 a0007c0008t0007g0331 a0007c0008t0007g0332 a0007c0008t0007g0333 a0007c0008t0007g0334 a0007c0008t0007g0335 a0015c0029t0014g0198	37	346	0.1069	-2	c.135 others(11): Show c.1357_1358delAT	p.Ile others(5): Show p.Ile453fs	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	13/39	1914/6008	1357/4632	453/1543		chr17	TogoVar
ABCC12_chr16_48075882_48160993	48143986	CTT CTT	C C	frameshift_variant frameshift_variant	HIGH	HG01496.hp2 HG02622.hp2 HG02647.hp1 others(4): Show HG01496.hp2 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02896.hp1 HG03139.hp2 NA20300.hp2	a0005 a0005	a0005c0010 a0005c0021 a0005c0029 others(1): Show a0005c0010 a0005c0021 a0005c0029 a0005c0030	a0005c0010t0002 a0005c0021t0002 a0005c0029t0018 others(1): Show a0005c0010t0002 a0005c0021t0002 a0005c0029t0018 a0005c0030t0001	a0005c0010t0002g0023 a0005c0010t0002g0024 a0005c0010t0002g0027 others(4): Show a0005c0010t0002g0023 a0005c0010t0002g0024 a0005c0010t0002g0027 a0005c0021t0002g0025 a0005c0021t0002g0026 a0005c0029t0018g0029 a0005c0030t0001g0119	7	132	0.0530	-2	c.197 others(9): Show c.197_198delAA	p.Lys others(4): Show p.Lys66fs	ABCC12	ENSG00000140798.17	transcript	ENST00000311303.8	protein_coding	4/31	670/7385	197/4080	66/1359		chr16	TogoVar
ACSBG2_chr19_6130667_6198091	6183037	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02055.hp1 HG02723.hp1 HG02055.hp1 HG02723.hp1	a0002 a0015 a0002 a0015	a0002c0002 a0015c0021 a0002c0002 a0015c0021	a0002c0002t0001 a0015c0021t0001 a0002c0002t0001 a0015c0021t0001	a0002c0002t0001g0103 a0015c0021t0001g0101 a0002c0002t0001g0103 a0015c0021t0001g0101	2	260	0.0077	0	c.108 others(6): Show c.1089-2A>G		ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	9/14					chr19	TogoVar
ADGRE1_chr19_6882579_6945450	6921702	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(88): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00738.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp1	a0004 a0006 a0007 others(24): Show a0004 a0006 a0007 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0024 a0029 a0030 a0036 a0037 a0038 a0039 a0041 a0047 a0049 a0052 a0054 a0056 a0059 a0066	a0004c0004 a0006c0006 a0007c0007 others(24): Show a0004c0004 a0006c0006 a0007c0007 a0012c0012 a0013c0011 a0014c0015 a0015c0016 a0016c0014 a0017c0018 a0018c0017 a0020c0019 a0021c0022 a0024c0023 a0029c0038 a0030c0055 a0036c0066 a0037c0061 a0038c0031 a0039c0039 a0041c0053 a0047c0057 a0049c0059 a0052c0058 a0054c0047 a0056c0051 a0059c0067 a0066c0065	a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 others(40): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0004 a0004c0004t0005 a0004c0004t0006 a0006c0006t0001 a0006c0006t0002 a0006c0006t0004 a0006c0006t0005 a0007c0007t0001 a0007c0007t0002 a0007c0007t0004 a0007c0007t0005 a0012c0012t0001 a0012c0012t0005 a0013c0011t0002 a0014c0015t0003 a0015c0016t0001 a0015c0016t0006 a0016c0014t0002 a0016c0014t0004 a0016c0014t0005 a0017c0018t0002 a0018c0017t0004 a0018c0017t0005 a0020c0019t0001 a0021c0022t0001 a0021c0022t0006 a0024c0023t0001 a0029c0038t0001 a0030c0055t0006 a0036c0066t0004 a0037c0061t0002 a0038c0031t0005 a0039c0039t0006 a0041c0053t0007 a0047c0057t0004 a0049c0059t0001 a0052c0058t0002 a0054c0047t0002 a0056c0051t0004 a0059c0067t0002 a0066c0065t0002	a0004c0004t0001g0003 a0004c0004t0001g0034 a0004c0004t0001g0050 others(86): Show a0004c0004t0001g0003 a0004c0004t0001g0034 a0004c0004t0001g0050 a0004c0004t0001g0067 a0004c0004t0001g0078 a0004c0004t0001g0164 a0004c0004t0001g0175 a0004c0004t0001g0176 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0185 a0004c0004t0001g0247 a0004c0004t0001g0253 a0004c0004t0001g0279 a0004c0004t0002g0124 a0004c0004t0002g0312 a0004c0004t0004g0115 a0004c0004t0005g0122 a0004c0004t0005g0125 a0004c0004t0005g0255 a0004c0004t0005g0310 a0004c0004t0005g0311 a0004c0004t0006g0154 a0004c0004t0006g0295 a0006c0006t0001g0190 a0006c0006t0001g0191 a0006c0006t0001g0192 a0006c0006t0001g0193 a0006c0006t0001g0194 a0006c0006t0001g0195 a0006c0006t0001g0264 a0006c0006t0002g0065 a0006c0006t0002g0297 a0006c0006t0004g0298 a0006c0006t0004g0299 a0006c0006t0005g0096 a0007c0007t0001g0084 a0007c0007t0001g0108 a0007c0007t0002g0097 a0007c0007t0002g0104 a0007c0007t0004g0309 a0007c0007t0005g0133 a0007c0007t0005g0287 a0012c0012t0001g0001 a0012c0012t0001g0064 a0012c0012t0001g0110 a0012c0012t0001g0208 a0012c0012t0001g0257 a0012c0012t0005g0294 a0013c0011t0002g0139 a0014c0015t0003g0113 a0014c0015t0003g0155 a0014c0015t0003g0156 a0014c0015t0003g0157 a0014c0015t0003g0269 a0015c0016t0001g0126 a0015c0016t0006g0074 a0015c0016t0006g0075 a0015c0016t0006g0134 a0015c0016t0006g0135 a0016c0014t0002g0073 a0016c0014t0002g0105 a0016c0014t0002g0117 a0016c0014t0004g0106 a0016c0014t0005g0118 a0017c0018t0002g0305 a0018c0017t0004g0091 a0018c0017t0004g0092 a0018c0017t0004g0121 a0018c0017t0005g0090 a0020c0019t0001g0049 a0021c0022t0001g0216 a0021c0022t0001g0233 a0021c0022t0006g0263 a0024c0023t0001g0219 a0029c0038t0001g0148 a0030c0055t0006g0204 a0036c0066t0004g0081 a0037c0061t0002g0296 a0038c0031t0005g0129 a0039c0039t0006g0321 a0041c0053t0007g0095 a0047c0057t0004g0111 a0049c0059t0001g0329 a0052c0058t0002g0100 a0054c0047t0002g0102 a0056c0051t0004g0316 a0059c0067t0002g0153 a0066c0065t0002g0112	91	336	0.2708	1	c.162 others(7): Show c.1621-3dupT		ADGRE1	ENSG00000174837.15	transcript	ENST00000312053.9	protein_coding	13/20				INFO_REALIGN_3_PRIME	chr19	TogoVar
AGAP6_chr10_49983406_50015499	50009986	G G	T T	stop_gained stop_gained	HIGH	HG02055.hp2 HG02109.hp1 HG02717.hp2 others(5): Show HG02055.hp2 HG02109.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02965.hp1 NA19030.hp1 NA19043.hp2	a0006 a0011 a0006 a0011	a0006c0007 a0011c0012 a0006c0007 a0011c0012	a0006c0007t0004 a0011c0012t0005 a0006c0007t0004 a0011c0012t0005	a0006c0007t0004g0049 a0006c0007t0004g0193 a0006c0007t0004g0194 others(4): Show a0006c0007t0004g0049 a0006c0007t0004g0193 a0006c0007t0004g0194 a0006c0007t0004g0197 a0006c0007t0004g0200 a0011c0012t0005g0195 a0011c0012t0005g0196	8	404	0.0198	0	c.186 others(4): Show c.1861G>T	p.Glu others(4): Show p.Glu621*	AGAP6	ENSG00000204149.16	transcript	ENST00000412531.7	protein_coding	8/8	2171/2684	1861/2061	621/686		chr10	TogoVar
ANKDD1B_chr5_75606453_75676846	75611679	GGGGCTGC others(6): Show GGGGCTGCTGCTCC	G G	frameshift_variant frameshift_variant	HIGH	HG02615.hp2 HG02723.hp2 HG03195.hp2 HG02615.hp2 HG02723.hp2 HG03195.hp2	a0013 a0013	a0013c0016 a0013c0024 a0013c0016 a0013c0024	a0013c0016t0001 a0013c0024t0003 a0013c0016t0001 a0013c0024t0003	a0013c0016t0001g0032 a0013c0016t0001g0034 a0013c0024t0003g0313 a0013c0016t0001g0032 a0013c0016t0001g0034 a0013c0024t0003g0313	3	370	0.0081	-13	c.56_ others(18): Show c.56_68delTCCGGGCTGCTGC	p.Leu others(4): Show p.Leu19fs	ANKDD1B	ENSG00000189045.15	transcript	ENST00000601380.4	protein_coding	1/14	238/2575	56/1587	19/528	INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD36_chr2_97108153_97269521	97207905	TTTATTAT others(1859): Show TTTATTATTTCATTTGAAATTCCATTCAGGCTACAAGTGCCGAGAAAGAT TCTGTTTTGAATATAGCCAGAGGAAAAAAGTATGGAGAAAAAACTAAGAG AGGTAATTTTGAAAAGAGATTTAATGTCATGTTCAGTGCAGATAGATAAG AAGTTCTCTTCCCTGAATAAATCAGCGGGGGGCTCGTTGAAGCTGCACAT TCTGATTCAGCAGTCCTGAGATTCTTCATTTCAAATAAGTTCTTGGGTGA TGCTGATGCTGCTGGTCTGGAACATGATCTTCGCAGTAAGATTATACACT TCCCCACATTGAAATTGGGAAGAAGAATTATGGAGAGCAGTTCAAGGCAT AAGGGGCTCTGGGGAACAACATAATTTTGCTTTAATTCTCCAGCTTGTTT TCAGTAAGGGTGGAAGGAGAAAGAGAGGAAGTATAGAATTTACACACTTC AGCTCGTACTGCCAAGAAAAGACAGAAAGCTTGTTGTAACAACCCGTAGA CACTGTGGGAGAACTAAGGAGACCCCTGGTGTAGCAACAGTTTTCCTAAG GAAGACGGATTGTGAGGCAGGAAGGTGTGAAAAGAGGAAGTCATTTATAT AATTTTGGAGTTTCTGCTGAGGAAACCTGAGTGAACTCACTTCAGATGCA TTTGGAATATTTTCATAAAAAATATTTGCTTTTAGCTGCTCCAGGAACTA CTGGAAGCAGGAAACAGTGGTATAATTGGAATACACCACACTGACCCATT ACTCCTCTTGGTTACTAGGAGGCATCAGAGATACATGTTTTGTTGATTTT AGTTATAAAAATGAGATAATCTTGAATGTGAATAAATTTGCTTCCTTGTT CAAGGAGCTACCTCGTGGATAAAATAGCTATTTAATGTAACTTCTTTAGA GAATAACACGATACTCCCAACCAGACTATTTTAGACACAAGAATGATGTT GAATTCTAATTAACTCCTAAAATAGTCATTTTCAATGAATATTGCAGTGA TTTCTGAATGAAAAGCTGATTAATATCTAATGCTTGTAGCCATTTTACTT TGTAGACGTATGTCAAAGTTGATAATTGATGATATTTTTATTGAGGCTAA TATATTATCCTTTGGTGCCAAGAGTGGATGAAGAAGCTTTCGGAAGGCTA AACTAGTGGATACAAGAAACTTAGGCAAATTATTACACTACATGGGTGTG AAAGATAATGAATATTATCTACTAGGTATCAGCAAACAGATATCCAAGGT GATCAATTCAGGACACTTCCACTGAAGAGATGTGAAGTGTACTTTCAACT GGAGTGTCATTGTAATTGTGTGCCTTCTCATTTATTGGGCAAGTTAAAGA GCATGAAGAATGTTTGTAGTATAATGGTGTAAATCCTTTTGATTTGTTGC ATGAAAGACATATGGGATCATGTAGCACCTGTTTTGACATTGATTCTCAC GTATATGAGTTGTTCCTCTGATTTTAGATCACATTTGTCCTCATCACTCG GCATATCCACATTGAGATTGACACGGTTTTATTTTAGTTTTTGACACGTG ACAAATCATATAATGTTTGAAATTGTAAGGGTATATTTCATGGAGCCTGT GTTCCCTTTTTCAGTGTATTTCTGTCATGTTCTGATCCCCAGACACAAAG TAGAAGCCATCAAAGCCTCCACTAATACAGGCAGGAGGACAGAGGTTGAT GCTAACACTGTGTGAATGTATGGATAACTTTATCATATTTACATGTGAGT GATTATGTATCCCTTTTGCTTTTCAGTGTCTTCTCGGAAAAAACCAGCCT TGAAGGTAATGAAACTCTCATTCATATTGTGAGCTAGTAAACGTATAGCC TATGAAAGATACCTTAC	T T	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00423.hp1 HG01099.hp2 others(46): Show HG00099.hp1 HG00423.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01257.hp2 HG01261.hp2 HG01515.hp1 HG01981.hp1 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03927.hp2 HG06807.hp1 NA18945.hp1 NA18951.hp1 NA18961.hp1 NA18991.hp2 NA19030.hp2 NA19068.hp1 NA19072.hp1 NA20129.hp1 NA20129.hp2	a0003 a0005 a0011 others(5): Show a0003 a0005 a0011 a0015 a0016 a0018 a0024 a0029	a0003c0003 a0003c0030 a0005c0005 others(8): Show a0003c0003 a0003c0030 a0005c0005 a0005c0021 a0005c0031 a0011c0011 a0015c0016 a0016c0020 a0018c0018 a0024c0039 a0029c0049	a0003c0003t0001 a0003c0030t0001 a0005c0005t0003 others(9): Show a0003c0003t0001 a0003c0030t0001 a0005c0005t0003 a0005c0005t0007 a0005c0021t0003 a0005c0031t0001 a0011c0011t0001 a0015c0016t0001 a0016c0020t0001 a0018c0018t0001 a0024c0039t0001 a0029c0049t0003	a0003c0003t0001g0003 a0003c0003t0001g0020 a0003c0003t0001g0034 others(44): Show a0003c0003t0001g0003 a0003c0003t0001g0020 a0003c0003t0001g0034 a0003c0003t0001g0053 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0128 a0003c0003t0001g0179 a0003c0003t0001g0204 a0003c0030t0001g0066 a0005c0005t0003g0019 a0005c0005t0003g0036 a0005c0005t0003g0037 a0005c0005t0003g0038 a0005c0005t0003g0039 a0005c0005t0003g0040 a0005c0005t0003g0041 a0005c0005t0003g0042 a0005c0005t0007g0035 a0005c0021t0003g0002 a0005c0031t0001g0012 a0011c0011t0001g0014 a0011c0011t0001g0045 a0011c0011t0001g0046 a0011c0011t0001g0047 a0011c0011t0001g0050 a0015c0016t0001g0044 a0015c0016t0001g0048 a0015c0016t0001g0049 a0016c0020t0001g0018 a0016c0020t0001g0033 a0018c0018t0001g0015 a0018c0018t0001g0016 a0024c0039t0001g0124 a0029c0049t0003g0043	49	210	0.2333	-1866	c.319 others(15): Show c.3193-14_3295-15del		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	54/76				INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD36_chr2_97108153_97269521	97224796	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00423.hp2 others(143): Show HG00099.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18961.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0001 a0003 a0004 others(21): Show a0001 a0003 a0004 a0005 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0021 a0022 a0023 a0024 a0028 a0029 a0030 a0031 a0033 a0035 a0036	a0001c0001 a0001c0029 a0001c0032 others(33): Show a0001c0001 a0001c0029 a0001c0032 a0001c0034 a0001c0035 a0003c0003 a0003c0030 a0004c0004 a0004c0009 a0004c0017 a0005c0005 a0005c0021 a0005c0031 a0009c0012 a0009c0046 a0010c0010 a0010c0026 a0011c0011 a0012c0014 a0012c0036 a0014c0015 a0015c0016 a0016c0020 a0017c0019 a0018c0018 a0021c0042 a0022c0047 a0023c0024 a0024c0039 a0028c0045 a0029c0049 a0030c0037 a0031c0033 a0033c0025 a0035c0040 a0036c0022	a0001c0001t0001 a0001c0001t0004 a0001c0029t0001 others(35): Show a0001c0001t0001 a0001c0001t0004 a0001c0029t0001 a0001c0032t0001 a0001c0034t0001 a0001c0035t0001 a0003c0003t0001 a0003c0030t0001 a0004c0004t0002 a0004c0009t0002 a0004c0017t0002 a0005c0005t0003 a0005c0005t0007 a0005c0021t0003 a0005c0031t0001 a0009c0012t0001 a0009c0046t0001 a0010c0010t0001 a0010c0026t0001 a0011c0011t0001 a0012c0014t0005 a0012c0036t0001 a0014c0015t0001 a0015c0016t0001 a0016c0020t0001 a0017c0019t0001 a0018c0018t0001 a0021c0042t0001 a0022c0047t0001 a0023c0024t0001 a0024c0039t0001 a0028c0045t0001 a0029c0049t0003 a0030c0037t0001 a0031c0033t0001 a0033c0025t0001 a0035c0040t0001 a0036c0022t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(139): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0051 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0200 a0001c0029t0001g0001 a0001c0032t0001g0001 a0001c0034t0001g0052 a0001c0035t0001g0103 a0003c0003t0001g0003 a0003c0003t0001g0020 a0003c0003t0001g0034 a0003c0003t0001g0053 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0128 a0003c0003t0001g0179 a0003c0003t0001g0204 a0003c0030t0001g0066 a0004c0004t0002g0005 a0004c0004t0002g0180 a0004c0004t0002g0186 a0004c0004t0002g0187 a0004c0004t0002g0189 a0004c0004t0002g0190 a0004c0004t0002g0191 a0004c0004t0002g0203 a0004c0009t0002g0181 a0004c0009t0002g0182 a0004c0009t0002g0183 a0004c0009t0002g0184 a0004c0009t0002g0185 a0004c0017t0002g0188 a0004c0017t0002g0192 a0005c0005t0003g0019 a0005c0005t0003g0036 a0005c0005t0003g0037 a0005c0005t0003g0038 a0005c0005t0003g0039 a0005c0005t0003g0040 a0005c0005t0003g0041 a0005c0005t0003g0042 a0005c0005t0007g0035 a0005c0021t0003g0002 a0005c0031t0001g0012 a0009c0012t0001g0071 a0009c0012t0001g0074 a0009c0012t0001g0079 a0009c0012t0001g0091 a0009c0012t0001g0094 a0009c0046t0001g0096 a0010c0010t0001g0029 a0010c0010t0001g0030 a0010c0010t0001g0031 a0010c0010t0001g0032 a0010c0010t0001g0201 a0010c0026t0001g0028 a0011c0011t0001g0014 a0011c0011t0001g0045 a0011c0011t0001g0046 a0011c0011t0001g0047 a0011c0011t0001g0050 a0012c0014t0005g0021 a0012c0014t0005g0075 a0012c0014t0005g0089 a0012c0014t0005g0115 a0012c0036t0001g0080 a0014c0015t0001g0007 a0014c0015t0001g0099 a0014c0015t0001g0100 a0015c0016t0001g0044 a0015c0016t0001g0048 a0015c0016t0001g0049 a0016c0020t0001g0018 a0016c0020t0001g0033 a0017c0019t0001g0205 a0017c0019t0001g0206 a0018c0018t0001g0015 a0018c0018t0001g0016 a0021c0042t0001g0026 a0022c0047t0001g0027 a0023c0024t0001g0118 a0024c0039t0001g0124 a0028c0045t0001g0073 a0029c0049t0003g0043 a0030c0037t0001g0116 a0031c0033t0001g0108 a0033c0025t0001g0123 a0035c0040t0001g0122 a0036c0022t0001g0070	146	210	0.6952	1	c.387 others(7): Show c.3878-3dupT		ANKRD36	ENSG00000135976.21	transcript	ENST00000420699.9	protein_coding	66/75				INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKRD40CL_chr17_50756030_50772518	50766754	GCAGAGTG others(368): Show GCAGAGTGGCGGAGGCCACAGGGCACTGCTGGCCACAGCATCACCTGTGT CCCAGCCTTCCCCAGCCCCCTGTCCCATCCTCCTTGAGGACCATGTTGGG AACAGGACTCCCAGACTCACCTGCTGGCTTCTCCCCGATGTCCTGTTCCG GTTCAGCCATGAGTCACCTCTAGTCCGTCAGATGTGCAGCCCCTCTCGCA TTTATGCACAAGCTCCCAACCAAATAAAAAGCACTTTCTACAGCCTCAGC ACATCTGTCTGCAAGGTAACAACAGTGTGTTCTTGCCAGCCCAGTGAGAT AGAGCAGGGTCATTTTTATTTTATAGATAGGGAAAAGGAGGCTGCAGCGT GTGGCATGATTTGCACAGGGTGAGGC	G G	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG01243.hp2 HG01891.hp2 HG02109.hp1 others(6): Show HG01243.hp2 HG01891.hp2 HG02109.hp1 HG02559.hp2 HG02723.hp1 HG02886.hp2 HG03139.hp2 NA19240.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0008 a0002c0002t0007 a0002c0002t0008	a0002c0002t0007g0023 a0002c0002t0007g0029 a0002c0002t0007g0030 others(2): Show a0002c0002t0007g0023 a0002c0002t0007g0029 a0002c0002t0007g0030 a0002c0002t0007g0031 a0002c0002t0008g0013	9	454	0.0198	-375	c.-98 others(14): Show c.-98-118_40+119del		ANKRD40CL	ENSG00000167117.10	transcript	ENST00000450727.6	protein_coding	2/4					chr17	TogoVar
ANO7_chr2_241183677_241230976	241223950	TCA TCA	T T	frameshift_variant frameshift_variant	HIGH	HG01099.hp1 HG01884.hp2 HG01891.hp2 others(29): Show HG01099.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19043.hp1	a0006 a0009 a0022 a0006 a0009 a0022	a0006c0006 a0006c0018 a0009c0016 others(3): Show a0006c0006 a0006c0018 a0009c0016 a0009c0017 a0009c0059 a0022c0067	a0006c0006t0001 a0006c0006t0003 a0006c0006t0009 others(9): Show a0006c0006t0001 a0006c0006t0003 a0006c0006t0009 a0006c0006t0017 a0006c0018t0001 a0006c0018t0017 a0009c0016t0001 a0009c0016t0008 a0009c0017t0001 a0009c0017t0008 a0009c0059t0001 a0022c0067t0001	a0006c0006t0001g0006 a0006c0006t0001g0254 a0006c0006t0001g0255 others(26): Show a0006c0006t0001g0006 a0006c0006t0001g0254 a0006c0006t0001g0255 a0006c0006t0003g0118 a0006c0006t0009g0006 a0006c0006t0009g0108 a0006c0006t0009g0112 a0006c0006t0009g0113 a0006c0006t0009g0114 a0006c0006t0009g0117 a0006c0006t0009g0119 a0006c0006t0017g0257 a0006c0018t0001g0157 a0006c0018t0001g0222 a0006c0018t0001g0335 a0006c0018t0001g0339 a0006c0018t0017g0161 a0009c0016t0001g0150 a0009c0016t0001g0253 a0009c0016t0008g0115 a0009c0016t0008g0152 a0009c0016t0008g0333 a0009c0016t0008g0334 a0009c0016t0008g0342 a0009c0017t0001g0016 a0009c0017t0008g0015 a0009c0017t0008g0104 a0009c0059t0001g0258 a0022c0067t0001g0037	32	394	0.0812	-2	c.257 others(11): Show c.2579_2580delCA	p.Ser others(5): Show p.Ser860fs	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	24/25	2676/4560	2579/2640	860/879		chr2	TogoVar
ASAH2B_chr10_50734936_50764255	50745132	T T	C C	start_lost start_lost	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(343): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(53): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0065 a0001c0001t0067 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0003t0002 a0001c0004t0075	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(131): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0019 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0005g0003 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0006g0003 a0001c0001t0007g0001 a0001c0001t0007g0010 a0001c0001t0007g0025 a0001c0001t0007g0084 a0001c0001t0007g0097 a0001c0001t0008g0002 a0001c0001t0008g0115 a0001c0001t0008g0125 a0001c0001t0010g0004 a0001c0001t0010g0040 a0001c0001t0010g0042 a0001c0001t0011g0007 a0001c0001t0011g0034 a0001c0001t0012g0004 a0001c0001t0013g0016 a0001c0001t0014g0002 a0001c0001t0015g0001 a0001c0001t0018g0007 a0001c0001t0018g0072 a0001c0001t0019g0001 a0001c0001t0020g0026 a0001c0001t0021g0001 a0001c0001t0022g0002 a0001c0001t0022g0011 a0001c0001t0022g0116 a0001c0001t0023g0010 a0001c0001t0024g0004 a0001c0001t0026g0004 a0001c0001t0026g0014 a0001c0001t0027g0030 a0001c0001t0028g0059 a0001c0001t0028g0060 a0001c0001t0030g0077 a0001c0001t0030g0079 a0001c0001t0035g0113 a0001c0001t0037g0105 a0001c0001t0038g0078 a0001c0001t0039g0044 a0001c0001t0040g0001 a0001c0001t0041g0036 a0001c0001t0042g0001 a0001c0001t0043g0012 a0001c0001t0044g0080 a0001c0001t0045g0110 a0001c0001t0046g0001 a0001c0001t0047g0001 a0001c0001t0048g0121 a0001c0001t0049g0002 a0001c0001t0050g0015 a0001c0001t0051g0002 a0001c0001t0052g0001 a0001c0001t0053g0062 a0001c0001t0054g0053 a0001c0001t0055g0003 a0001c0001t0056g0047 a0001c0001t0057g0076 a0001c0001t0058g0003 a0001c0001t0059g0003 a0001c0001t0065g0058 a0001c0001t0067g0061 a0001c0001t0071g0019 a0001c0001t0072g0001 a0001c0001t0073g0057 a0001c0001t0074g0034 a0001c0003t0002g0002 a0001c0004t0075g0054	346	412	0.8398	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ASAH2B	ENSG00000204147.11	transcript	ENST00000647317.2	protein_coding	3/6	149/5145	2/483	1/160		chr10	TogoVar
ATM_chr11_108218067_108374102	108250683	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(156): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04228.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp2 NA19080.hp2 NA19083.hp1 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(8): Show a0001 a0003 a0004 a0005 a0006 a0008 a0010 a0011 a0013 a0018 a0022	a0001c0001 a0001c0008 a0001c0010 others(13): Show a0001c0001 a0001c0008 a0001c0010 a0001c0020 a0001c0024 a0001c0025 a0003c0003 a0004c0004 a0005c0006 a0006c0007 a0008c0013 a0010c0014 a0011c0026 a0013c0019 a0018c0033 a0022c0018	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(31): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0008t0016 a0001c0010t0031 a0001c0020t0001 a0001c0024t0001 a0001c0025t0001 a0003c0003t0001 a0004c0004t0004 a0004c0004t0005 a0005c0006t0005 a0005c0006t0030 a0006c0007t0001 a0006c0007t0009 a0008c0013t0012 a0010c0014t0001 a0011c0026t0001 a0013c0019t0001 a0018c0033t0012 a0022c0018t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(155): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0154 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0009g0236 a0001c0001t0009g0255 a0001c0001t0009g0261 a0001c0001t0010g0204 a0001c0001t0010g0219 a0001c0001t0010g0220 a0001c0001t0010g0221 a0001c0001t0011g0155 a0001c0001t0011g0156 a0001c0001t0011g0195 a0001c0001t0013g0235 a0001c0001t0013g0275 a0001c0001t0014g0152 a0001c0001t0014g0274 a0001c0001t0014g0278 a0001c0001t0016g0010 a0001c0001t0017g0176 a0001c0001t0018g0002 a0001c0001t0018g0293 a0001c0001t0019g0244 a0001c0001t0019g0251 a0001c0001t0023g0003 a0001c0001t0025g0267 a0001c0001t0026g0189 a0001c0001t0027g0256 a0001c0001t0028g0289 a0001c0001t0034g0153 a0001c0008t0016g0116 a0001c0008t0016g0117 a0001c0010t0031g0032 a0001c0020t0001g0272 a0001c0024t0001g0238 a0001c0025t0001g0273 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0192 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0297 a0003c0003t0001g0298 a0004c0004t0004g0001 a0004c0004t0004g0169 a0004c0004t0004g0170 a0004c0004t0004g0177 a0004c0004t0004g0178 a0004c0004t0004g0179 a0004c0004t0004g0181 a0004c0004t0004g0182 a0004c0004t0004g0183 a0004c0004t0005g0005 a0005c0006t0005g0166 a0005c0006t0005g0167 a0005c0006t0005g0171 a0005c0006t0005g0172 a0005c0006t0005g0173 a0005c0006t0005g0174 a0005c0006t0005g0175 a0005c0006t0005g0180 a0005c0006t0030g0168 a0006c0007t0001g0151 a0006c0007t0001g0157 a0006c0007t0001g0158 a0006c0007t0001g0161 a0006c0007t0001g0162 a0006c0007t0009g0163 a0008c0013t0012g0118 a0008c0013t0012g0120 a0008c0013t0012g0121 a0010c0014t0001g0214 a0010c0014t0001g0280 a0011c0026t0001g0228 a0013c0019t0001g0208 a0018c0033t0012g0119 a0022c0018t0001g0229	159	299	0.5318	1	c.123 others(7): Show c.1236-3dupT		ATM	ENSG00000149311.21	transcript	ENST00000675843.1	protein_coding	9/62				INFO_REALIGN_3_PRIME	chr11	TogoVar
ATP6V1B1_chr2_70930900_70970431	70935956	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00323.hp2 HG00408.hp1 others(148): Show HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18987.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0008 others(18): Show a0002c0003 a0002c0006 a0002c0008 a0002c0010 a0002c0011 a0002c0012 a0002c0013 a0002c0014 a0002c0018 a0002c0019 a0002c0020 a0002c0021 a0002c0024 a0002c0025 a0002c0026 a0002c0027 a0002c0028 a0002c0029 a0002c0030 a0002c0031 a0002c0032	a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 others(21): Show a0002c0003t0001 a0002c0006t0001 a0002c0006t0003 a0002c0008t0002 a0002c0010t0002 a0002c0011t0002 a0002c0011t0007 a0002c0012t0005 a0002c0012t0012 a0002c0013t0002 a0002c0014t0002 a0002c0018t0002 a0002c0019t0008 a0002c0020t0001 a0002c0021t0001 a0002c0024t0002 a0002c0025t0001 a0002c0026t0001 a0002c0027t0001 a0002c0028t0001 a0002c0029t0004 a0002c0030t0001 a0002c0031t0001 a0002c0032t0001	a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 others(129): Show a0002c0003t0001g0013 a0002c0003t0001g0031 a0002c0003t0001g0040 a0002c0003t0001g0247 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0265 a0002c0003t0001g0271 a0002c0003t0001g0274 a0002c0003t0001g0275 a0002c0003t0001g0277 a0002c0003t0001g0279 a0002c0003t0001g0280 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0289 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0293 a0002c0003t0001g0295 a0002c0003t0001g0298 a0002c0003t0001g0301 a0002c0003t0001g0302 a0002c0003t0001g0303 a0002c0003t0001g0305 a0002c0003t0001g0306 a0002c0003t0001g0314 a0002c0003t0001g0356 a0002c0003t0001g0365 a0002c0003t0001g0367 a0002c0003t0001g0368 a0002c0003t0001g0369 a0002c0006t0001g0039 a0002c0006t0001g0245 a0002c0006t0001g0246 a0002c0006t0001g0248 a0002c0006t0001g0249 a0002c0006t0001g0256 a0002c0006t0001g0258 a0002c0006t0001g0259 a0002c0006t0001g0260 a0002c0006t0001g0266 a0002c0006t0001g0267 a0002c0006t0001g0268 a0002c0006t0001g0269 a0002c0006t0001g0272 a0002c0006t0001g0278 a0002c0006t0001g0296 a0002c0006t0001g0299 a0002c0006t0001g0304 a0002c0006t0001g0312 a0002c0006t0001g0322 a0002c0006t0001g0354 a0002c0006t0001g0366 a0002c0006t0003g0033 a0002c0006t0003g0300 a0002c0006t0003g0307 a0002c0008t0002g0004 a0002c0008t0002g0007 a0002c0008t0002g0255 a0002c0008t0002g0313 a0002c0008t0002g0328 a0002c0008t0002g0330 a0002c0008t0002g0331 a0002c0008t0002g0332 a0002c0008t0002g0333 a0002c0008t0002g0334 a0002c0008t0002g0336 a0002c0008t0002g0340 a0002c0008t0002g0341 a0002c0008t0002g0342 a0002c0008t0002g0343 a0002c0008t0002g0357 a0002c0008t0002g0358 a0002c0010t0002g0035 a0002c0010t0002g0036 a0002c0010t0002g0270 a0002c0010t0002g0286 a0002c0010t0002g0287 a0002c0010t0002g0308 a0002c0010t0002g0315 a0002c0010t0002g0316 a0002c0010t0002g0317 a0002c0010t0002g0323 a0002c0010t0002g0324 a0002c0010t0002g0325 a0002c0010t0002g0326 a0002c0010t0002g0329 a0002c0010t0002g0360 a0002c0011t0002g0257 a0002c0011t0002g0319 a0002c0011t0002g0320 a0002c0011t0002g0348 a0002c0011t0002g0353 a0002c0011t0007g0251 a0002c0011t0007g0252 a0002c0011t0007g0253 a0002c0011t0007g0254 a0002c0012t0005g0034 a0002c0012t0005g0250 a0002c0012t0005g0318 a0002c0012t0005g0321 a0002c0012t0005g0327 a0002c0012t0012g0288 a0002c0013t0002g0038 a0002c0013t0002g0344 a0002c0013t0002g0346 a0002c0013t0002g0347 a0002c0014t0002g0037 a0002c0014t0002g0338 a0002c0014t0002g0339 a0002c0018t0002g0310 a0002c0018t0002g0359 a0002c0019t0008g0264 a0002c0019t0008g0273 a0002c0020t0001g0032 a0002c0021t0001g0309 a0002c0021t0001g0362 a0002c0024t0002g0345 a0002c0025t0001g0297 a0002c0026t0001g0276 a0002c0027t0001g0294 a0002c0028t0001g0311 a0002c0029t0004g0355 a0002c0030t0001g0335 a0002c0031t0001g0364 a0002c0032t0001g0337	151	438	0.3447	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	ATP6V1B1	ENSG00000116039.13	transcript	ENST00000234396.10	protein_coding	1/14	57/1907	2/1542	1/513		chr2	TogoVar
ATP8B3_chr19_1777075_1817276	1783028	T T	C C	stop_lost stop_lost	HIGH	HG01070.hp1 HG01071.hp1 HG01192.hp2 others(25): Show HG01070.hp1 HG01071.hp1 HG01192.hp2 HG01258.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp1 HG02258.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02895.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03540.hp1 HG03688.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA20300.hp1 NA20805.hp1	a0006 a0007 a0009 others(8): Show a0006 a0007 a0009 a0010 a0011 a0012 a0014 a0023 a0027 a0028 a0032	a0006c0020 a0006c0032 a0006c0063 others(15): Show a0006c0020 a0006c0032 a0006c0063 a0007c0023 a0007c0038 a0007c0065 a0009c0035 a0009c0058 a0010c0029 a0011c0059 a0011c0060 a0012c0027 a0014c0054 a0014c0071 a0023c0040 a0027c0050 a0028c0046 a0032c0043	a0006c0020t0007 a0006c0020t0008 a0006c0032t0007 others(16): Show a0006c0020t0007 a0006c0020t0008 a0006c0032t0007 a0006c0063t0007 a0007c0023t0007 a0007c0038t0007 a0007c0065t0007 a0009c0035t0007 a0009c0058t0008 a0010c0029t0007 a0011c0059t0017 a0011c0060t0007 a0012c0027t0008 a0014c0054t0007 a0014c0071t0007 a0023c0040t0008 a0027c0050t0008 a0028c0046t0008 a0032c0043t0008	a0006c0020t0007g0011 a0006c0020t0007g0054 a0006c0020t0007g0080 others(25): Show a0006c0020t0007g0011 a0006c0020t0007g0054 a0006c0020t0007g0080 a0006c0020t0008g0373 a0006c0032t0007g0131 a0006c0032t0007g0132 a0006c0063t0007g0038 a0007c0023t0007g0039 a0007c0023t0007g0052 a0007c0023t0007g0110 a0007c0038t0007g0178 a0007c0038t0007g0179 a0007c0065t0007g0138 a0009c0035t0007g0165 a0009c0035t0007g0166 a0009c0058t0008g0374 a0010c0029t0007g0034 a0010c0029t0007g0056 a0011c0059t0017g0076 a0011c0060t0007g0137 a0012c0027t0008g0250 a0012c0027t0008g0261 a0014c0054t0007g0026 a0014c0071t0007g0170 a0023c0040t0008g0263 a0027c0050t0008g0236 a0028c0046t0008g0353 a0032c0043t0008g0247	28	388	0.0722	0	c.390 others(4): Show c.3903A>G	p.Ter others(12): Show p.Ter1301Trpext*?	ATP8B3	ENSG00000130270.16	transcript	ENST00000310127.10	protein_coding	29/29	4142/5095	3903/3903	1301/1300		chr19	TogoVar
AVPI1_chr10_97672424_97692241	97679916	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(98): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00738.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02109.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA19002.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19065.hp1 NA19068.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp2 NA19088.hp2 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 others(40): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0049 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0075 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0007g0167	101	444	0.2275	0	c.-10 others(5): Show c.-10-1G>C		AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	1/2					chr10	TogoVar
BCO2_chr11_112170512_112223946	112214843	C C	T T	stop_gained stop_gained	HIGH	HG01243.hp2 HG02723.hp1 HG03098.hp2 others(1): Show HG01243.hp2 HG02723.hp1 HG03098.hp2 NA21309.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0321 a0004c0005t0001g0322 a0004c0005t0001g0323 others(1): Show a0004c0005t0001g0321 a0004c0005t0001g0322 a0004c0005t0001g0323 a0004c0005t0001g0350	4	378	0.0106	0	c.141 others(4): Show c.1414C>T	p.Arg others(4): Show p.Arg472*	BCO2	ENSG00000197580.13	transcript	ENST00000357685.11	protein_coding	10/12	1504/2902	1414/1740	472/579		chr11	TogoVar
BPNT2_chr8_56952931_56998867	56993348	C C	A A	stop_gained stop_gained	HIGH	HG02723.hp2 HG02723.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0013 a0005c0004t0013	a0005c0004t0013g0188 a0005c0004t0013g0188	1	354	0.0028	0	c.238 others(3): Show c.238G>T	p.Glu others(3): Show p.Glu80*	BPNT2	ENSG00000104331.9	transcript	ENST00000262644.9	protein_coding	1/5	520/7224	238/1080	80/359		chr8	TogoVar
BRME1_chr19_13877348_13911117	13889358	G G	A A	stop_gained stop_gained	HIGH	HG02572.hp2 HG02723.hp2 HG02818.hp1 others(1): Show HG02572.hp2 HG02723.hp2 HG02818.hp1 HG03225.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0043 a0002c0006t0002g0044 a0002c0006t0002g0046 others(1): Show a0002c0006t0002g0043 a0002c0006t0002g0044 a0002c0006t0002g0046 a0002c0006t0002g0047	4	322	0.0124	0	c.149 others(4): Show c.1498C>T	p.Gln others(4): Show p.Gln500*	BRME1	ENSG00000132016.12	transcript	ENST00000586783.6	protein_coding	6/9	1922/2885	1498/2007	500/668		chr19	TogoVar
BSPH1_chr19_47963046_47997170	47992081	T T	C C	start_lost start_lost	HIGH	HG02723.hp1 HG03130.hp1 HG03516.hp1 HG02723.hp1 HG03130.hp1 HG03516.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0412 a0003c0005t0001g0413 a0003c0005t0001g0414 a0003c0005t0001g0412 a0003c0005t0001g0413 a0003c0005t0001g0414	3	442	0.0068	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	BSPH1	ENSG00000188334.3	transcript	ENST00000344839.3	protein_coding	1/6	90/654	1/399	1/132		chr19	TogoVar
C11orf71_chr11_114393532_114405511	114400275	G G	C C	stop_gained stop_gained	HIGH	HG02622.hp1 HG02723.hp2 HG02896.hp2 others(1): Show HG02622.hp1 HG02723.hp2 HG02896.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0000 a0002c0002t0004g0000	4	420	0.0095	0	c.57C others(2): Show c.57C>G	p.Tyr others(3): Show p.Tyr19*	C11orf71	ENSG00000180425.11	transcript	ENST00000623205.2	protein_coding	1/1	237/1980	57/372	19/123		chr11	TogoVar
C12orf54_chr12_48477498_48501524	48494980	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01099.hp1 HG01167.hp1 HG02258.hp1 others(34): Show HG01099.hp1 HG01167.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03540.hp1 NA18906.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0091 others(11): Show a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0003g0010 a0001c0001t0003g0014 a0001c0001t0003g0087 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0102	37	434	0.0853	0	c.40 others(5): Show c.40+1G>A		C12orf54	ENSG00000177627.11	transcript	ENST00000548364.7	protein_coding	8/8					chr12	TogoVar
C12orf60_chr12_14798670_14829415	14823483	CTA CTA	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00609.hp1 others(65): Show HG00140.hp1 HG00280.hp1 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01069.hp2 HG01081.hp1 HG01109.hp1 HG01257.hp1 HG01891.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18522.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18962.hp2 NA18968.hp1 NA18979.hp2 NA18989.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19062.hp2 NA19063.hp1 NA19068.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19086.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0012 others(9): Show a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0018 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066	68	386	0.1762	-2	c.550 others(9): Show c.550_551delAT	p.Met others(5): Show p.Met184fs	C12orf60	ENSG00000182993.5	transcript	ENST00000330828.3	protein_coding	2/2	656/1586	550/738	184/245	INFO_REALIGN_3_PRIME	chr12	TogoVar
C2orf50_chr2_11128128_11156317	11133332	A A	AC AC	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG00438.hp1 HG00609.hp1 HG00639.hp2 others(74): Show HG00438.hp1 HG00609.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18962.hp2 NA18970.hp1 NA18972.hp1 NA18987.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19066.hp2 NA19070.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0005 a0001c0001 a0002c0003 a0005c0005	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 others(32): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0002c0003t0034 a0005c0005t0039	a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 others(59): Show a0001c0001t0003g0004 a0001c0001t0003g0010 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0182 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0007g0010 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0183 a0001c0001t0007g0185 a0001c0001t0007g0199 a0001c0001t0007g0204 a0001c0001t0011g0004 a0001c0001t0011g0010 a0001c0001t0011g0040 a0001c0001t0011g0184 a0001c0001t0013g0019 a0001c0001t0013g0210 a0001c0001t0014g0035 a0001c0001t0014g0178 a0001c0001t0014g0201 a0001c0001t0019g0010 a0001c0001t0019g0039 a0001c0001t0019g0187 a0001c0001t0019g0205 a0001c0001t0021g0004 a0001c0001t0021g0010 a0001c0001t0021g0014 a0001c0001t0022g0018 a0001c0001t0024g0208 a0001c0001t0024g0209 a0001c0001t0025g0181 a0001c0001t0025g0202 a0001c0001t0033g0207 a0001c0001t0035g0180 a0001c0001t0036g0206 a0001c0001t0037g0179 a0001c0001t0038g0203 a0001c0001t0043g0036 a0001c0001t0044g0036 a0001c0001t0045g0211 a0001c0001t0047g0037 a0001c0001t0048g0192 a0001c0001t0049g0038 a0001c0001t0050g0190 a0001c0001t0051g0014 a0001c0001t0052g0194 a0001c0001t0053g0191 a0001c0001t0054g0188 a0001c0001t0055g0189 a0001c0001t0056g0014 a0001c0001t0057g0193 a0001c0001t0058g0186 a0001c0001t0059g0014 a0001c0001t0060g0198 a0001c0001t0061g0212 a0002c0003t0034g0046 a0005c0005t0039g0045	77	378	0.2037	1	c.-1d others(3): Show c.-1dupC	p.Met others(3): Show p.Met1fs	C2orf50	ENSG00000150873.12	transcript	ENST00000381585.8	protein_coding	1/3	208/7902	1/489	1/162	INFO_REALIGN_3_PRIME	chr2	TogoVar
C3orf52_chr3_112081389_112123210	112109537	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(153): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01346.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18946.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp1 NA18965.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19065.hp2 NA19072.hp1 NA19074.hp2 NA19081.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0011 a0001c0012 others(6): Show a0001c0001 a0001c0011 a0001c0012 a0002c0002 a0004c0005 a0005c0006 a0006c0010 a0007c0008 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0011t0002 a0001c0012t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0004c0005t0002 a0005c0006t0002 a0006c0010t0002 a0007c0008t0002 a0008c0007t0006	a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 others(98): Show a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0058 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0214 a0001c0001t0004g0029 a0001c0001t0004g0112 a0001c0001t0006g0061 a0001c0001t0007g0033 a0001c0001t0007g0132 a0001c0001t0007g0134 a0001c0001t0011g0135 a0001c0001t0012g0060 a0001c0011t0002g0140 a0001c0012t0002g0131 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0100 a0002c0002t0003g0006 a0002c0002t0003g0012 a0002c0002t0003g0050 a0002c0002t0003g0051 a0002c0002t0003g0053 a0002c0002t0003g0097 a0002c0002t0004g0070 a0002c0002t0004g0071 a0002c0002t0006g0045 a0002c0002t0006g0075 a0002c0002t0006g0076 a0004c0005t0002g0013 a0005c0006t0002g0095 a0005c0006t0002g0096 a0006c0010t0002g0065 a0007c0008t0002g0059 a0008c0007t0006g0057	156	370	0.4216	1	c.397 others(6): Show c.397-3dupT		C3orf52	ENSG00000114529.13	transcript	ENST00000264848.10	protein_coding	3/5				INFO_REALIGN_3_PRIME	chr3	TogoVar
C8orf89_chr8_73236331_73264530	73256972	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02055.hp2 HG02647.hp2 HG02723.hp2 others(2): Show HG02055.hp2 HG02647.hp2 HG02723.hp2 HG06807.hp2 NA20300.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0001 a0002c0002t0002 a0004c0004t0001	a0002c0002t0002g0125 a0002c0002t0002g0126 a0004c0004t0001g0047 others(1): Show a0002c0002t0002g0125 a0002c0002t0002g0126 a0004c0004t0001g0047 a0004c0004t0001g0128	5	342	0.0146	0	c.281 others(5): Show c.281+1G>T		C8orf89	ENSG00000274443.5	transcript	ENST00000624510.4	protein_coding	2/3					chr8	TogoVar
CABYR_chr18_24134062_24166600	24160067	CTG CTG	C C	frameshift_variant others(2): Show frameshift_variant stop_lost splice_region_variant	HIGH	HG01884.hp2 HG02559.hp1 HG02723.hp2 others(7): Show HG01884.hp2 HG02559.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0015 a0001c0001t0002g0103 a0001c0001t0002g0104 others(5): Show a0001c0001t0002g0015 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0161 a0001c0002t0002g0125	10	406	0.0246	-2	c.113 others(11): Show c.1138_1139delTG	p.Ter others(5): Show p.Ter380fs	CABYR	ENSG00000154040.21	transcript	ENST00000399496.8	protein_coding	5/6	1219/1305	1138/1140	380/379		chr18	TogoVar
CACNB2_chr10_18135424_18548557	18150879	T T	TTTTTTTG TTTTTTTG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01109.hp2 HG01516.hp2 HG02723.hp1 others(2): Show HG01109.hp2 HG01516.hp2 HG02723.hp1 HG03195.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 others(2): Show a0001c0001t0006 a0001c0001t0008 a0001c0002t0002 a0001c0002t0056 a0002c0003t0058	a0001c0001t0006g0005 a0001c0001t0008g0007 a0001c0002t0002g0004 others(2): Show a0001c0001t0006g0005 a0001c0001t0008g0007 a0001c0002t0002g0004 a0001c0002t0056g0054 a0002c0003t0058g0053	5	183	0.0273	7	c.121 others(18): Show c.121-3_121-2insTTTTTGT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	1/13				INFO_REALIGN_3_PRIME	chr10	TogoVar
CAPN15_chr16_522712_559636	536144	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00639.hp1 HG01069.hp2 HG01070.hp2 others(43): Show HG00639.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01168.hp2 HG01257.hp1 HG01258.hp2 HG01433.hp1 HG01891.hp2 HG01981.hp2 HG02074.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02559.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03704.hp2 HG06807.hp1 NA18945.hp2 NA18956.hp1 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18984.hp2 NA19004.hp1 NA19030.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0011 a0014 a0023	a0001c0001 a0001c0002 a0001c0003 others(20): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0022 a0001c0046 a0001c0067 a0001c0072 a0002c0012 a0002c0059 a0003c0037 a0003c0040 a0004c0018 a0004c0019 a0004c0025 a0005c0036 a0008c0024 a0011c0066 a0014c0068 a0023c0041	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0019 a0001c0003t0001 a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0005t0010 a0001c0006t0001 a0001c0006t0003 a0001c0007t0036 a0001c0022t0001 a0001c0046t0037 a0001c0067t0016 a0001c0072t0004 a0002c0012t0002 a0002c0059t0002 a0003c0037t0001 a0003c0040t0001 a0004c0018t0001 a0004c0018t0014 a0004c0019t0003 a0004c0025t0003 a0005c0036t0001 a0008c0024t0001 a0008c0024t0002 a0011c0066t0001 a0014c0068t0001 a0023c0041t0004	a0001c0001t0001g0018 a0001c0001t0001g0359 a0001c0001t0001g0361 others(41): Show a0001c0001t0001g0018 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0382 a0001c0001t0001g0393 a0001c0001t0002g0295 a0001c0002t0001g0360 a0001c0002t0003g0299 a0001c0002t0009g0397 a0001c0002t0019g0396 a0001c0003t0001g0294 a0001c0003t0001g0297 a0001c0003t0001g0298 a0001c0004t0001g0392 a0001c0004t0003g0009 a0001c0004t0003g0296 a0001c0004t0003g0376 a0001c0004t0003g0377 a0001c0004t0003g0378 a0001c0004t0003g0379 a0001c0004t0003g0380 a0001c0005t0001g0030 a0001c0005t0010g0313 a0001c0006t0001g0292 a0001c0006t0003g0276 a0001c0007t0036g0300 a0001c0022t0001g0312 a0001c0046t0037g0267 a0001c0067t0016g0278 a0001c0072t0004g0394 a0002c0012t0002g0266 a0002c0059t0002g0065 a0003c0037t0001g0381 a0003c0040t0001g0301 a0004c0018t0001g0273 a0004c0018t0014g0008 a0004c0019t0003g0274 a0004c0025t0003g0277 a0005c0036t0001g0391 a0008c0024t0001g0386 a0008c0024t0002g0293 a0011c0066t0001g0247 a0014c0068t0001g0363 a0023c0041t0004g0383	46	408	0.1127	0	c.-23 others(5): Show c.-23+2T>C		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13					chr16	TogoVar
CASC3_chr17_40135537_40177171	40163475	T T	TTG TTG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG01081.hp1 HG01109.hp2 others(19): Show HG00099.hp1 HG01081.hp1 HG01109.hp2 HG02109.hp2 HG02148.hp2 HG02280.hp1 HG02572.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG06807.hp2 NA19030.hp1 NA20129.hp2 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0008 a0005c0005 a0001c0001 a0001c0008 a0005c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0008t0002 a0005c0005t0005	a0001c0001t0001g0017 a0001c0001t0001g0224 a0001c0001t0001g0225 others(18): Show a0001c0001t0001g0017 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0009g0110 a0001c0008t0002g0019 a0005c0005t0005g0018	22	264	0.0833	2	c.786 others(13): Show c.786-4_786-3dupGT		CASC3	ENSG00000108349.17	transcript	ENST00000264645.12	protein_coding	6/13				INFO_REALIGN_3_PRIME	chr17	TogoVar
CATSPER2_chr15_43623503_43653844	43632936	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19089.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0002c0008 a0003c0003 a0006c0012 a0008c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0005t0004 a0002c0002t0002 a0002c0002t0009 a0002c0002t0012 a0002c0002t0023 a0002c0008t0002 a0003c0003t0008 a0003c0003t0011 a0003c0003t0021 a0006c0012t0022 a0008c0009t0002	a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 others(111): Show a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0193 a0001c0001t0004g0003 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0005g0056 a0001c0001t0006g0012 a0001c0001t0006g0132 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0010g0026 a0001c0001t0010g0188 a0001c0001t0014g0126 a0001c0001t0018g0130 a0001c0005t0004g0048 a0001c0005t0004g0049 a0001c0005t0004g0050 a0002c0002t0002g0004 a0002c0002t0002g0007 a0002c0002t0002g0011 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0143 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0197 a0002c0002t0009g0175 a0002c0002t0009g0194 a0002c0002t0009g0195 a0002c0002t0009g0196 a0002c0002t0012g0144 a0002c0002t0012g0160 a0002c0002t0023g0149 a0002c0008t0002g0141 a0003c0003t0008g0022 a0003c0003t0008g0131 a0003c0003t0011g0051 a0003c0003t0011g0052 a0003c0003t0021g0129 a0006c0012t0022g0178 a0008c0009t0002g0142	176	390	0.4513	0	c.117 others(6): Show c.1179-2A>T		CATSPER2	ENSG00000166762.19	transcript	ENST00000396879.8	protein_coding	10/12					chr15	TogoVar
CBS_chr21_43048191_43080835	43063074	A A	ATGATCTG others(61): Show ATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCA CCTGGATGATCCACCCCAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp2 HG00280.hp2 HG01081.hp1 others(37): Show HG00099.hp2 HG00280.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp1 HG02055.hp1 HG02559.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp2 HG03834.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0008c0015 a0002c0003 a0008c0015	a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 others(2): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0008c0015t0012	a0002c0003t0001g0109 a0002c0003t0001g0173 a0002c0003t0003g0118 others(26): Show a0002c0003t0001g0109 a0002c0003t0001g0173 a0002c0003t0003g0118 a0002c0003t0004g0010 a0002c0003t0004g0011 a0002c0003t0004g0017 a0002c0003t0004g0032 a0002c0003t0004g0033 a0002c0003t0004g0037 a0002c0003t0004g0105 a0002c0003t0004g0106 a0002c0003t0004g0107 a0002c0003t0004g0108 a0002c0003t0004g0110 a0002c0003t0004g0112 a0002c0003t0004g0113 a0002c0003t0004g0114 a0002c0003t0004g0116 a0002c0003t0004g0117 a0002c0003t0004g0119 a0002c0003t0004g0162 a0002c0003t0004g0163 a0002c0003t0004g0164 a0002c0003t0004g0177 a0002c0003t0006g0016 a0002c0003t0006g0136 a0002c0003t0006g0158 a0002c0003t0006g0159 a0008c0015t0012g0156	40	297	0.1347	68	c.832 others(75): Show c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTT GAGCCCTGAAGCCGCGCCCTCTGCAGATCA	p.Ile others(5): Show p.Ile278fs	CBS	ENSG00000160200.18	transcript	ENST00000398165.8	protein_coding	10/17	982/2495	832/1656	278/551		chr21	TogoVar
CCDC138_chr2_108781771_108881578	108788018	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show HG00099.hp2 HG00408.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01993.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp1 HG02922.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp2 HG06807.hp2 NA18945.hp1 NA18955.hp2 NA18968.hp2 NA18970.hp2 NA18974.hp1 NA18977.hp2 NA18984.hp2 NA18988.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19058.hp1 NA19070.hp2 NA19081.hp2 NA19082.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0002c0002 a0003c0003 a0004c0007 others(4): Show a0002c0002 a0003c0003 a0004c0007 a0005c0014 a0006c0008 a0007c0009 a0008c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0003t0001 a0004c0007t0002 a0005c0014t0001 a0006c0008t0001 a0007c0009t0001 a0008c0015t0001	a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 others(75): Show a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0181 a0002c0002t0001g0191 a0002c0002t0001g0194 a0002c0002t0001g0196 a0002c0002t0001g0206 a0002c0002t0002g0182 a0002c0002t0002g0184 a0002c0002t0002g0185 a0002c0002t0002g0189 a0002c0002t0003g0186 a0002c0002t0003g0188 a0002c0002t0003g0190 a0002c0002t0003g0192 a0002c0002t0003g0195 a0002c0002t0004g0187 a0003c0003t0001g0003 a0003c0003t0001g0134 a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0138 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0143 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0150 a0003c0003t0001g0151 a0003c0003t0001g0152 a0003c0003t0001g0153 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0183 a0004c0007t0002g0121 a0004c0007t0002g0122 a0004c0007t0002g0123 a0004c0007t0002g0124 a0004c0007t0002g0125 a0005c0014t0001g0135 a0006c0008t0001g0165 a0007c0009t0001g0164 a0008c0015t0001g0193	79	217	0.3641	1	c.94- others(5): Show c.94-3dupT		CCDC138	ENSG00000163006.12	transcript	ENST00000295124.9	protein_coding	1/14				INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC15_chr11_124949202_125046489	125038937	C C	T T	stop_gained stop_gained	HIGH	HG02723.hp1 HG02723.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0012 a0006c0016t0012	a0006c0016t0012g0030 a0006c0016t0012g0030	1	348	0.0029	0	c.260 others(4): Show c.2602C>T	p.Arg others(4): Show p.Arg868*	CCDC15	ENSG00000149548.15	transcript	ENST00000344762.6	protein_coding	15/16	2780/3812	2602/2856	868/951		chr11	TogoVar
CCDC198_chr14_57464300_57498857	57481662	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005 a0005c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(11): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0016 a0001c0001t0017 a0001c0002t0002 a0001c0002t0010 a0001c0002t0013 a0001c0002t0018 a0002c0003t0003 a0002c0003t0006 a0002c0003t0011 a0003c0005t0001 a0005c0007t0008	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(132): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0005g0040 a0001c0001t0007g0159 a0001c0001t0016g0162 a0001c0001t0017g0075 a0001c0002t0002g0067 a0001c0002t0002g0068 a0001c0002t0002g0069 a0001c0002t0002g0164 a0001c0002t0010g0176 a0001c0002t0013g0071 a0001c0002t0018g0070 a0002c0003t0003g0065 a0002c0003t0003g0167 a0002c0003t0006g0044 a0002c0003t0011g0066 a0003c0005t0001g0042 a0003c0005t0001g0179 a0005c0007t0008g0072	260	360	0.7222	0	c.394 others(5): Show c.394-2A>G		CCDC198	ENSG00000100557.10	transcript	ENST00000216445.8	protein_coding	3/5					chr14	TogoVar
CD200R1L_chr3_112810711_112851864	112837703	GAAGGTGC others(534): Show GAAGGTGCTGTAAGTTTTCTTCTTTTTAGCTTCTATTTTTGTGTGCTACT AAGAAATCTACATGTTTGCTTTTTGTTGTTGAATTAAATTGAATAAGTCG GTCCTTGCTTGGTCTTCAAGCAATAGTGTGCAGAGAGGTATCTGTTAAAA TTGCACACAGGACAAATGATCATGTAAATGTTTCTGCTGATGATCCAACC CTCCCATCAAACTGGTTATTAAGTAAGTGAGCATTTTACCTTCATTAAGA CGTATTCTCTAACTTTGTATTTCCAGTTGTGTCATCAGACAGGAATTATT ATCTGAGGCTAGAAAATATTTAAAGAAGAAATATGGAGAAAATTAAGAAC TTTTCTTTACTGAAATGGACTAGAATCCACTGATTTCATATAAGATAATC ACAGAAAACAACATTTCAATTCCTTAAATTAATTAATAATCACACCAAAA AAACCTCTACATAAAAGAAATCAGCAGTGAGACCATAACTAGATAAATGC ACGTATGTCAGGATTTTGACATTTCTTTTGTAGTTATGAATA	G G	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG01106.hp1 HG02723.hp2 HG02976.hp2 others(4): Show HG01106.hp1 HG02723.hp2 HG02976.hp2 HG03225.hp1 HG03453.hp2 NA18522.hp1 NA19043.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0004 a0004c0005t0004 a0002c0003t0004 a0004c0005t0004	a0002c0003t0004g0135 a0004c0005t0004g0015 a0004c0005t0004g0134 a0002c0003t0004g0135 a0004c0005t0004g0015 a0004c0005t0004g0134	7	406	0.0172	-541	c.-86 others(15): Show c.-86-234_-18+238del		CD200R1L	ENSG00000206531.12	transcript	ENST00000488794.6	protein_coding	3/8					chr3	TogoVar
CEACAM21_chr19_41571166_41591844	41585872	G G	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02145.hp2 HG02258.hp2 HG02647.hp2 others(7): Show HG02145.hp2 HG02258.hp2 HG02647.hp2 HG02723.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp1 NA20129.hp2	a0004 a0007 a0004 a0007	a0004c0004 a0007c0010 a0004c0004 a0007c0010	a0004c0004t0001 a0007c0010t0001 a0004c0004t0001 a0007c0010t0001	a0004c0004t0001g0019 a0004c0004t0001g0023 a0004c0004t0001g0047 others(3): Show a0004c0004t0001g0019 a0004c0004t0001g0023 a0004c0004t0001g0047 a0004c0004t0001g0084 a0004c0004t0001g0086 a0007c0010t0001g0060	10	392	0.0255	0	c.882 others(5): Show c.882+1G>A		CEACAM21	ENSG00000007129.18	transcript	ENST00000401445.4	protein_coding	6/6					chr19	TogoVar
CELA1_chr12_51323442_51351679	51329814	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00423.hp2 HG00639.hp2 others(43): Show HG00099.hp2 HG00423.hp2 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01978.hp1 HG01993.hp2 HG02165.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp1 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 NA18906.hp1 NA18973.hp2 NA18990.hp2 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0004 a0001c0007 a0001c0009 a0001c0004 a0001c0007 a0001c0009	a0001c0004t0002 a0001c0007t0002 a0001c0009t0002 a0001c0004t0002 a0001c0007t0002 a0001c0009t0002	a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0022 others(14): Show a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0022 a0001c0004t0002g0024 a0001c0004t0002g0025 a0001c0004t0002g0033 a0001c0004t0002g0035 a0001c0004t0002g0036 a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0002g0074 a0001c0004t0002g0076 a0001c0004t0002g0081 a0001c0004t0002g0082 a0001c0007t0002g0034 a0001c0007t0002g0070 a0001c0009t0002g0073	46	404	0.1139	1	c.628 others(4): Show c.628dupC	p.Leu others(5): Show p.Leu210fs	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	7/8	669/953	628/777	210/258		chr12	TogoVar
CELA1_chr12_51323442_51351679	51346628	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18965.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010	a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 others(6): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0007t0002 a0001c0009t0002 a0001c0010t0002	a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 others(97): Show a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0013 a0001c0002t0002g0016 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0065 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0003t0001g0002 a0001c0003t0001g0040 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0114 a0001c0003t0001g0115 a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0002g0012 a0001c0003t0002g0037 a0001c0003t0002g0066 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0083 a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0022 a0001c0004t0002g0024 a0001c0004t0002g0025 a0001c0004t0002g0033 a0001c0004t0002g0035 a0001c0004t0002g0036 a0001c0004t0002g0071 a0001c0004t0002g0072 a0001c0004t0002g0074 a0001c0004t0002g0076 a0001c0004t0002g0081 a0001c0004t0002g0082 a0001c0005t0001g0003 a0001c0005t0001g0015 a0001c0005t0001g0023 a0001c0005t0001g0049 a0001c0005t0001g0050 a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0005t0001g0053 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0056 a0001c0005t0001g0057 a0001c0005t0001g0058 a0001c0005t0001g0059 a0001c0005t0001g0060 a0001c0005t0001g0061 a0001c0005t0001g0062 a0001c0006t0001g0018 a0001c0006t0001g0063 a0001c0006t0001g0064 a0001c0007t0002g0034 a0001c0007t0002g0070 a0001c0009t0002g0073 a0001c0010t0002g0075	211	404	0.5223	-1	c.10d others(3): Show c.10delC	p.Leu others(3): Show p.Leu4fs	CELA1	ENSG00000139610.2	transcript	ENST00000293636.2	protein_coding	1/8	51/953	10/777	4/258		chr12	TogoVar
CEL_chr9_133056981_133076861	133071533	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00408.hp2 HG00423.hp1 others(178): Show HG00280.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19076.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0011 a0014 a0018	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0017 a0001c0022 a0002c0004 a0002c0013 a0007c0010 a0011c0012 a0014c0014 a0018c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0017t0001 a0001c0022t0001 a0002c0004t0001 a0002c0013t0001 a0007c0010t0001 a0011c0012t0001 a0014c0014t0001 a0018c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0002g0001 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0003g0001 a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0015 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0003t0001g0013 a0001c0009t0001g0030 a0001c0017t0001g0001 a0001c0022t0001g0001 a0002c0004t0001g0037 a0002c0013t0001g0036 a0007c0010t0001g0003 a0011c0012t0001g0080 a0014c0014t0001g0064 a0018c0023t0001g0040	181	409	0.4425	1	c.204 others(5): Show c.2040dupC	p.Val others(5): Show p.Val681fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	2063/2381	2041/2262	681/753	INFO_REALIGN_3_PRIME	chr9	TogoVar
CES5A_chr16_55841154_55880373	55869642	G G	A A	stop_gained stop_gained	HIGH	HG01168.hp1 HG02109.hp1 HG02572.hp1 others(11): Show HG01168.hp1 HG02109.hp1 HG02572.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03225.hp1 NA18522.hp2	a0007 a0011 a0007 a0011	a0007c0020 a0007c0021 a0007c0068 others(6): Show a0007c0020 a0007c0021 a0007c0068 a0007c0069 a0007c0070 a0007c0071 a0011c0026 a0011c0047 a0011c0048	a0007c0020t0001 a0007c0020t0003 a0007c0021t0001 others(7): Show a0007c0020t0001 a0007c0020t0003 a0007c0021t0001 a0007c0068t0004 a0007c0069t0003 a0007c0070t0005 a0007c0071t0004 a0011c0026t0001 a0011c0047t0002 a0011c0048t0001	a0007c0020t0001g0360 a0007c0020t0001g0361 a0007c0020t0003g0120 others(11): Show a0007c0020t0001g0360 a0007c0020t0001g0361 a0007c0020t0003g0120 a0007c0021t0001g0356 a0007c0021t0001g0357 a0007c0021t0001g0362 a0007c0068t0004g0131 a0007c0069t0003g0104 a0007c0070t0005g0155 a0007c0071t0004g0108 a0011c0026t0001g0240 a0011c0026t0001g0298 a0011c0047t0002g0307 a0011c0048t0001g0235	14	448	0.0313	0	c.520 others(3): Show c.520C>T	p.Gln others(4): Show p.Gln174*	CES5A	ENSG00000159398.16	transcript	ENST00000290567.14	protein_coding	4/13	672/2177	520/1728	174/575		chr16	TogoVar
CFAP157_chr9_127701988_127721002	127713033	C C	T T	stop_gained stop_gained	HIGH	HG02723.hp1 HG03516.hp1 HG02723.hp1 HG03516.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0010 a0007c0011t0010	a0007c0011t0010g0023 a0007c0011t0010g0023	2	352	0.0057	0	c.131 others(4): Show c.1318C>T	p.Gln others(4): Show p.Gln440*	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding	8/9	1362/3704	1318/1563	440/520		chr9	TogoVar
CFAP47_chrX_35914734_36390317	35919809	C C	T T	stop_gained stop_gained	HIGH	HG02723.hp2 HG02723.hp2	a0033 a0033	a0033c0074 a0033c0074	a0033c0074t0003 a0033c0074t0003	a0033c0074t0003g0133 a0033c0074t0003g0133	1	214	0.0047	0	c.10C others(2): Show c.10C>T	p.Gln others(2): Show p.Gln4*	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	1/64	76/9941	10/9564	4/3187		chrX	TogoVar
CLEC4A_chr12_8118617_8143607	8138285	T T	C C	stop_lost stop_lost	HIGH	HG01167.hp2 HG01169.hp2 HG02647.hp1 others(4): Show HG01167.hp2 HG01169.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG03516.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0001c0001t0013 a0002c0002t0019 a0001c0001t0009 a0001c0001t0013 a0002c0002t0019	a0001c0001t0009g0017 a0001c0001t0009g0032 a0001c0001t0009g0098 others(2): Show a0001c0001t0009g0017 a0001c0001t0009g0032 a0001c0001t0009g0098 a0001c0001t0013g0017 a0002c0002t0019g0064	7	456	0.0154	0	c.712 others(3): Show c.712T>C	p.Ter others(11): Show p.Ter238Argext*?	CLEC4A	ENSG00000111729.15	transcript	ENST00000229332.12	protein_coding	6/6	974/1296	712/714	238/237		chr12	TogoVar
CNDP2_chr18_74491363_74528454	74518940	T T	TC TC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(351): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0005 others(16): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0016 a0001c0017 a0001c0020 a0002c0002 a0002c0006 a0002c0007 a0002c0008 a0003c0004 a0004c0018 a0005c0011 a0006c0019 a0007c0012 a0009c0010 a0010c0013 a0011c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0046 a0001c0001t0049 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0021 a0001c0003t0023 a0001c0003t0048 a0001c0005t0002 a0001c0009t0001 a0001c0016t0009 a0001c0017t0002 a0001c0020t0031 a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0002c0002t0010 a0002c0002t0022 a0002c0002t0041 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0047 a0002c0006t0002 a0002c0007t0002 a0002c0008t0001 a0003c0004t0009 a0004c0018t0001 a0005c0011t0002 a0006c0019t0001 a0007c0012t0007 a0009c0010t0001 a0010c0013t0002 a0011c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(247): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0063 a0001c0001t0002g0080 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0169 a0001c0001t0002g0172 a0001c0001t0005g0144 a0001c0001t0005g0146 a0001c0001t0007g0076 a0001c0001t0008g0174 a0001c0001t0008g0236 a0001c0001t0008g0238 a0001c0001t0008g0246 a0001c0001t0008g0248 a0001c0001t0008g0249 a0001c0001t0008g0259 a0001c0001t0009g0074 a0001c0001t0009g0168 a0001c0001t0011g0224 a0001c0001t0013g0002 a0001c0001t0013g0049 a0001c0001t0013g0207 a0001c0001t0013g0211 a0001c0001t0014g0001 a0001c0001t0014g0016 a0001c0001t0014g0197 a0001c0001t0014g0285 a0001c0001t0015g0244 a0001c0001t0015g0245 a0001c0001t0017g0186 a0001c0001t0017g0273 a0001c0001t0018g0251 a0001c0001t0019g0052 a0001c0001t0019g0201 a0001c0001t0020g0050 a0001c0001t0025g0007 a0001c0001t0026g0002 a0001c0001t0027g0016 a0001c0001t0028g0160 a0001c0001t0029g0157 a0001c0001t0030g0016 a0001c0001t0032g0233 a0001c0001t0033g0004 a0001c0001t0034g0185 a0001c0001t0035g0284 a0001c0001t0036g0001 a0001c0001t0046g0077 a0001c0001t0049g0015 a0001c0003t0002g0037 a0001c0003t0002g0116 a0001c0003t0002g0122 a0001c0003t0002g0151 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0007g0045 a0001c0003t0007g0123 a0001c0003t0007g0138 a0001c0003t0007g0191 a0001c0003t0009g0061 a0001c0003t0021g0036 a0001c0003t0023g0037 a0001c0003t0048g0152 a0001c0005t0002g0047 a0001c0005t0002g0069 a0001c0009t0001g0007 a0001c0016t0009g0072 a0001c0017t0002g0073 a0001c0020t0031g0189 a0002c0002t0001g0167 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0012 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0067 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0281 a0002c0002t0007g0119 a0002c0002t0007g0121 a0002c0002t0010g0003 a0002c0002t0022g0005 a0002c0002t0022g0127 a0002c0002t0041g0032 a0002c0002t0043g0033 a0002c0002t0044g0083 a0002c0002t0045g0137 a0002c0002t0047g0101 a0002c0006t0002g0066 a0002c0006t0002g0081 a0002c0007t0002g0100 a0002c0007t0002g0136 a0002c0008t0001g0056 a0003c0004t0009g0079 a0004c0018t0001g0004 a0005c0011t0002g0003 a0006c0019t0001g0001 a0007c0012t0007g0045 a0009c0010t0001g0227 a0010c0013t0002g0124 a0011c0014t0001g0184	354	422	0.8389	1	c.121 others(7): Show c.1211-3dupC		CNDP2	ENSG00000133313.15	transcript	ENST00000324262.9	protein_coding	10/11				INFO_REALIGN_3_PRIME	chr18	TogoVar
CNTLN_chr9_17130040_17508923	17457514	TA TA	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00408.hp2 HG00423.hp2 others(134): Show HG00140.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02056.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18974.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp2 NA19043.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19079.hp1 NA19084.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010 a0015 a0016 a0017 a0018 a0019 a0020 a0024 a0025 a0026	a0001c0001 a0001c0004 a0001c0014 others(31): Show a0001c0001 a0001c0004 a0001c0014 a0001c0016 a0001c0023 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0047 a0001c0055 a0002c0006 a0002c0008 a0002c0013 a0003c0002 a0003c0052 a0004c0003 a0004c0020 a0005c0005 a0006c0007 a0006c0043 a0008c0010 a0008c0053 a0009c0009 a0010c0012 a0015c0034 a0016c0038 a0017c0032 a0018c0042 a0019c0045 a0020c0040 a0024c0051 a0025c0054 a0026c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(49): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0014t0001 a0001c0016t0001 a0001c0023t0003 a0001c0023t0012 a0001c0027t0004 a0001c0028t0004 a0001c0029t0001 a0001c0030t0002 a0001c0047t0001 a0001c0055t0001 a0002c0006t0001 a0002c0008t0001 a0002c0008t0009 a0002c0013t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0016 a0003c0052t0002 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0004c0003t0009 a0004c0020t0005 a0005c0005t0001 a0006c0007t0002 a0006c0007t0006 a0006c0007t0014 a0006c0007t0015 a0006c0043t0002 a0008c0010t0002 a0008c0010t0004 a0008c0053t0002 a0009c0009t0002 a0009c0009t0008 a0010c0012t0002 a0010c0012t0003 a0015c0034t0001 a0016c0038t0001 a0017c0032t0001 a0018c0042t0002 a0019c0045t0002 a0020c0040t0002 a0024c0051t0013 a0025c0054t0002 a0026c0024t0003	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 others(134): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0002g0127 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0204 a0001c0001t0007g0175 a0001c0004t0001g0005 a0001c0004t0001g0006 a0001c0004t0001g0007 a0001c0004t0001g0008 a0001c0004t0001g0010 a0001c0004t0001g0011 a0001c0004t0001g0012 a0001c0004t0001g0014 a0001c0004t0001g0015 a0001c0004t0001g0023 a0001c0004t0002g0002 a0001c0004t0002g0017 a0001c0004t0003g0003 a0001c0014t0001g0038 a0001c0016t0001g0128 a0001c0016t0001g0129 a0001c0016t0001g0177 a0001c0023t0003g0166 a0001c0023t0012g0168 a0001c0027t0004g0161 a0001c0028t0004g0028 a0001c0029t0001g0202 a0001c0030t0002g0048 a0001c0047t0001g0123 a0001c0055t0001g0021 a0002c0006t0001g0076 a0002c0008t0001g0026 a0002c0008t0001g0027 a0002c0008t0001g0035 a0002c0008t0001g0037 a0002c0008t0001g0039 a0002c0008t0001g0040 a0002c0008t0009g0034 a0002c0013t0001g0045 a0003c0002t0001g0051 a0003c0002t0001g0055 a0003c0002t0001g0056 a0003c0002t0001g0057 a0003c0002t0001g0058 a0003c0002t0001g0062 a0003c0002t0001g0063 a0003c0002t0001g0068 a0003c0002t0001g0069 a0003c0002t0001g0071 a0003c0002t0001g0211 a0003c0002t0002g0065 a0003c0002t0002g0074 a0003c0002t0016g0070 a0003c0052t0002g0167 a0004c0003t0001g0135 a0004c0003t0001g0138 a0004c0003t0001g0139 a0004c0003t0001g0140 a0004c0003t0001g0146 a0004c0003t0001g0149 a0004c0003t0001g0152 a0004c0003t0001g0159 a0004c0003t0001g0192 a0004c0003t0001g0193 a0004c0003t0001g0212 a0004c0003t0001g0217 a0004c0003t0002g0148 a0004c0003t0002g0187 a0004c0003t0003g0136 a0004c0003t0004g0180 a0004c0003t0009g0134 a0004c0020t0005g0145 a0005c0005t0001g0094 a0005c0005t0001g0095 a0005c0005t0001g0096 a0006c0007t0002g0077 a0006c0007t0002g0078 a0006c0007t0002g0079 a0006c0007t0002g0085 a0006c0007t0002g0086 a0006c0007t0002g0199 a0006c0007t0006g0080 a0006c0007t0014g0087 a0006c0007t0015g0083 a0006c0043t0002g0081 a0008c0010t0002g0001 a0008c0010t0002g0049 a0008c0010t0002g0206 a0008c0010t0004g0207 a0008c0053t0002g0004 a0009c0009t0002g0154 a0009c0009t0002g0157 a0009c0009t0002g0208 a0009c0009t0008g0153 a0010c0012t0002g0018 a0010c0012t0002g0019 a0010c0012t0002g0020 a0010c0012t0003g0025 a0015c0034t0001g0088 a0016c0038t0001g0151 a0017c0032t0001g0066 a0018c0042t0002g0084 a0019c0045t0002g0046 a0020c0040t0002g0147 a0024c0051t0013g0047 a0025c0054t0002g0016 a0026c0024t0003g0024	137	215	0.6372	-1	c.311 others(7): Show c.3115-2delA		CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	18/25				INFO_REALIGN_3_PRIME	chr9	TogoVar
COG6_chr13_39650662_39757628	39679963	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(131): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19003.hp1 NA19009.hp2 NA19011.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(119): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0003g0010 a0001c0001t0003g0024 a0001c0001t0003g0129 a0001c0001t0003g0188 a0001c0001t0003g0202 a0001c0001t0004g0096 a0001c0001t0004g0105 a0001c0001t0004g0107 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0171 a0001c0001t0005g0011 a0001c0001t0005g0012 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0208 a0001c0001t0012g0182 a0001c0001t0013g0134 a0001c0001t0014g0168 a0001c0001t0015g0201 a0002c0002t0005g0216 a0002c0002t0005g0217 a0002c0002t0005g0218 a0002c0002t0005g0219 a0002c0002t0006g0341 a0002c0002t0007g0325 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0176	134	368	0.3641	1	c.624 others(6): Show c.624-3dupT		COG6	ENSG00000133103.17	transcript	ENST00000455146.8	protein_coding	6/18				INFO_REALIGN_3_PRIME	chr13	TogoVar
COL6A2_chr21_46093112_46134801	46125455	A A	AC AC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0001c0005 others(11): Show a0001c0001 a0001c0002 a0001c0005 a0001c0013 a0001c0014 a0001c0019 a0001c0025 a0001c0031 a0002c0003 a0003c0004 a0003c0007 a0003c0017 a0003c0041 a0008c0042	a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 others(17): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0005t0001 a0001c0013t0002 a0001c0014t0002 a0001c0019t0002 a0001c0025t0002 a0001c0031t0002 a0002c0003t0003 a0003c0004t0001 a0003c0004t0002 a0003c0007t0002 a0003c0017t0002 a0003c0041t0002 a0008c0042t0002	a0001c0001t0001g0037 a0001c0001t0001g0116 a0001c0001t0001g0153 others(80): Show a0001c0001t0001g0037 a0001c0001t0001g0116 a0001c0001t0001g0153 a0001c0001t0001g0301 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0252 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0267 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0286 a0001c0002t0002g0290 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0305 a0001c0002t0002g0306 a0001c0002t0002g0308 a0001c0002t0002g0312 a0001c0002t0002g0313 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0002t0002g0320 a0001c0002t0002g0322 a0001c0002t0002g0323 a0001c0002t0002g0327 a0001c0002t0002g0328 a0001c0002t0002g0329 a0001c0002t0005g0289 a0001c0002t0009g0022 a0001c0002t0009g0253 a0001c0002t0009g0259 a0001c0002t0009g0262 a0001c0002t0009g0330 a0001c0002t0009g0334 a0001c0002t0010g0125 a0001c0002t0010g0291 a0001c0002t0010g0292 a0001c0002t0010g0321 a0001c0002t0012g0285 a0001c0002t0013g0288 a0001c0005t0001g0154 a0001c0013t0002g0001 a0001c0013t0002g0272 a0001c0014t0002g0007 a0001c0014t0002g0319 a0001c0019t0002g0020 a0001c0025t0002g0279 a0001c0031t0002g0296 a0002c0003t0003g0227 a0003c0004t0001g0309 a0003c0004t0002g0046 a0003c0004t0002g0257 a0003c0004t0002g0311 a0003c0004t0002g0324 a0003c0007t0002g0026 a0003c0017t0002g0307 a0003c0017t0002g0310 a0003c0041t0002g0258 a0008c0042t0002g0284	100	367	0.2725	1	c.181 others(7): Show c.1817-3dupC		COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	24/27				INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46125455	A A	AC AC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show HG00140.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp1 HG02165.hp1 HG02723.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 NA18747.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19079.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0011	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0024 a0001c0033 a0001c0042 a0001c0043 a0001c0050 a0002c0003 a0003c0010 a0003c0016 a0003c0063 a0005c0017 a0005c0065 a0011c0066	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(21): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0014 a0001c0004t0001 a0001c0006t0001 a0001c0009t0001 a0001c0024t0002 a0001c0033t0002 a0001c0042t0002 a0001c0043t0002 a0001c0050t0002 a0002c0003t0001 a0003c0010t0001 a0003c0010t0002 a0003c0016t0002 a0003c0063t0001 a0005c0017t0002 a0005c0065t0002 a0011c0066t0002	a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0002t0001g0320 others(80): Show a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0021 a0001c0002t0002g0124 a0001c0002t0002g0251 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0266 a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0283 a0001c0002t0002g0285 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0292 a0001c0002t0002g0293 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0312 a0001c0002t0002g0314 a0001c0002t0002g0315 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0002g0322 a0001c0002t0002g0327 a0001c0002t0008g0019 a0001c0002t0009g0328 a0001c0002t0012g0020 a0001c0002t0013g0313 a0001c0002t0014g0326 a0001c0004t0001g0155 a0001c0006t0001g0302 a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 a0001c0009t0001g0261 a0001c0009t0001g0329 a0001c0009t0001g0333 a0001c0024t0002g0005 a0001c0024t0002g0318 a0001c0033t0002g0020 a0001c0042t0002g0294 a0001c0043t0002g0284 a0001c0050t0002g0297 a0002c0003t0001g0225 a0003c0010t0001g0309 a0003c0010t0002g0323 a0003c0016t0002g0026 a0003c0063t0001g0047 a0005c0017t0002g0256 a0005c0017t0002g0257 a0005c0017t0002g0311 a0005c0065t0002g0310 a0011c0066t0002g0282	97	359	0.2702	1	c.181 others(7): Show c.1817-3dupC		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	24/27				INFO_REALIGN_3_PRIME	chr21	TogoVar

Search by Variant

Search

Search Results