Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PSORS1C1_chr6_31109800_31145092	31138723	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00733.hp2 HG00735.hp1 others(54): Show HG00423.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01261.hp1 HG01346.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02071.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG03225.hp2 HG03239.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp1 NA18522.hp2 NA18940.hp2 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18969.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA19001.hp2 NA19004.hp1 NA19009.hp2 NA19059.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19081.hp1 NA19085.hp1 NA20129.hp1 NA20300.hp2	a0004 a0006 a0004 a0006	a0004c0005 a0006c0006 a0006c0013 a0004c0005 a0006c0006 a0006c0013	a0004c0005t0001 a0004c0005t0003 a0004c0005t0005 others(4): Show a0004c0005t0001 a0004c0005t0003 a0004c0005t0005 a0004c0005t0006 a0004c0005t0021 a0006c0006t0004 a0006c0013t0019	a0004c0005t0001g0088 a0004c0005t0001g0194 a0004c0005t0001g0204 others(25): Show a0004c0005t0001g0088 a0004c0005t0001g0194 a0004c0005t0001g0204 a0004c0005t0003g0011 a0004c0005t0003g0016 a0004c0005t0003g0169 a0004c0005t0003g0170 a0004c0005t0003g0171 a0004c0005t0003g0178 a0004c0005t0003g0179 a0004c0005t0003g0180 a0004c0005t0003g0186 a0004c0005t0003g0189 a0004c0005t0005g0226 a0004c0005t0006g0024 a0004c0005t0006g0163 a0004c0005t0006g0164 a0004c0005t0006g0165 a0004c0005t0021g0235 a0006c0006t0004g0002 a0006c0006t0004g0018 a0006c0006t0004g0028 a0006c0006t0004g0056 a0006c0006t0004g0057 a0006c0006t0004g0221 a0006c0006t0004g0222 a0006c0006t0004g0223 a0006c0013t0019g0225	57	414	0.1377	1	c.118 others(4): Show c.118dupC	p.His others(4): Show p.His40fs	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding	5/6	439/939	119/459	40/152	INFO_REALIGN_3_PRIME	chr6	TogoVar
PTEN_chr10_87858625_87976930	87960876	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00323.hp1 HG00408.hp1 others(84): Show HG00099.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01175.hp1 HG01346.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02300.hp1 HG02602.hp2 HG02735.hp1 HG02818.hp2 HG02970.hp1 HG03486.hp1 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18984.hp1 NA18990.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp2 NA19012.hp1 NA19059.hp2 NA19066.hp2 NA19075.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(27): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0023 a0001c0001t0038 a0001c0001t0039 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0085 a0001c0001t0100	a0001c0001t0002g0012 a0001c0001t0002g0141 a0001c0001t0002g0207 others(84): Show a0001c0001t0002g0012 a0001c0001t0002g0141 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0230 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0253 a0001c0001t0002g0263 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0004g0012 a0001c0001t0004g0206 a0001c0001t0004g0208 a0001c0001t0004g0219 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0234 a0001c0001t0004g0243 a0001c0001t0004g0245 a0001c0001t0004g0250 a0001c0001t0004g0254 a0001c0001t0004g0269 a0001c0001t0004g0273 a0001c0001t0004g0276 a0001c0001t0004g0277 a0001c0001t0006g0103 a0001c0001t0009g0102 a0001c0001t0009g0120 a0001c0001t0010g0007 a0001c0001t0011g0231 a0001c0001t0011g0262 a0001c0001t0011g0264 a0001c0001t0015g0109 a0001c0001t0015g0110 a0001c0001t0015g0111 a0001c0001t0015g0113 a0001c0001t0016g0211 a0001c0001t0016g0272 a0001c0001t0016g0285 a0001c0001t0017g0226 a0001c0001t0017g0235 a0001c0001t0017g0251 a0001c0001t0018g0255 a0001c0001t0018g0258 a0001c0001t0018g0259 a0001c0001t0019g0256 a0001c0001t0019g0257 a0001c0001t0019g0280 a0001c0001t0023g0112 a0001c0001t0023g0114 a0001c0001t0023g0115 a0001c0001t0038g0242 a0001c0001t0039g0261 a0001c0001t0043g0266 a0001c0001t0044g0249 a0001c0001t0045g0279 a0001c0001t0046g0233 a0001c0001t0047g0237 a0001c0001t0048g0217 a0001c0001t0049g0260 a0001c0001t0050g0241 a0001c0001t0051g0290 a0001c0001t0052g0232 a0001c0001t0053g0270 a0001c0001t0054g0212 a0001c0001t0055g0281 a0001c0001t0056g0265 a0001c0001t0085g0190 a0001c0001t0100g0205	87	311	0.2797	1	c.802 others(6): Show c.802-3dupT		PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding	7/8				INFO_REALIGN_3_PRIME	chr10	TogoVar
PVRIG_chr7_100214949_100226490	100221192	A A	ACT ACT	frameshift_variant frameshift_variant	HIGH	HG00323.hp1 HG01928.hp1 HG01943.hp2 others(13): Show HG00323.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG02293.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18998.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19059.hp1 NA19079.hp2 NA19084.hp1 NA19089.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0008 a0003c0003 a0008c0008	a0003c0003t0002 a0008c0008t0002 a0003c0003t0002 a0008c0008t0002	a0003c0003t0002g0002 a0008c0008t0002g0002 a0003c0003t0002g0002 a0008c0008t0002g0002	16	392	0.0408	2	c.865 others(9): Show c.865_866dupCT	p.Pro others(5): Show p.Pro291fs	PVRIG	ENSG00000213413.3	transcript	ENST00000699088.1	protein_coding	5/5	889/1182	867/921	289/306	INFO_REALIGN_3_PRIME	chr7	TogoVar
RABL2B_chr22_50762506_50788636	50769106	G G	A A	stop_gained stop_gained	HIGH	NA18974.hp2 NA19059.hp1 NA18974.hp2 NA19059.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0058 a0003c0003t0001g0058	2	474	0.0042	0	c.526 others(3): Show c.526C>T	p.Arg others(4): Show p.Arg176*	RABL2B	ENSG00000079974.19	transcript	ENST00000691320.1	protein_coding	8/9	715/2149	526/690	176/229		chr22	TogoVar
RNPEP_chr1_201977648_202011143	202001693	T T	G G	stop_gained stop_gained	HIGH	NA19059.hp2 NA19059.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0002 a0007c0016t0002	a0007c0016t0002g0233 a0007c0016t0002g0233	1	452	0.0022	0	c.135 others(4): Show c.1352T>G	p.Leu others(4): Show p.Leu451*	RNPEP	ENSG00000176393.11	transcript	ENST00000295640.9	protein_coding	8/11	1371/2399	1352/1953	451/650		chr1	TogoVar
SIGLEC12_chr19_51486227_51506800	51501537	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0017	a0001c0002 a0001c0003 a0001c0005 others(23): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0001c0020 a0001c0029 a0001c0030 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0003c0016 a0003c0017 a0003c0025 a0003c0048 a0003c0052 a0007c0018 a0017c0031	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0010t0002 a0001c0012t0002 a0001c0014t0003 a0001c0019t0003 a0001c0020t0001 a0001c0029t0001 a0001c0030t0003 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0001c0040t0001 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0048t0001 a0003c0052t0002 a0007c0018t0001 a0017c0031t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 others(83): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0003g0059 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0005g0084 a0001c0002t0005g0085 a0001c0002t0005g0086 a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0012 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0032 a0001c0003t0001g0063 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0102 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0029 a0001c0005t0001g0030 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0056 a0001c0010t0002g0011 a0001c0012t0002g0031 a0001c0012t0002g0066 a0001c0012t0002g0076 a0001c0014t0003g0027 a0001c0019t0003g0034 a0001c0020t0001g0035 a0001c0029t0001g0052 a0001c0030t0003g0053 a0001c0032t0001g0061 a0001c0033t0001g0062 a0001c0034t0001g0101 a0001c0035t0001g0065 a0001c0036t0001g0067 a0001c0037t0001g0082 a0001c0038t0001g0098 a0001c0039t0001g0099 a0001c0040t0001g0103 a0003c0016t0001g0156 a0003c0016t0005g0047 a0003c0017t0006g0046 a0003c0017t0006g0155 a0003c0025t0005g0048 a0003c0048t0001g0139 a0003c0052t0002g0157 a0007c0018t0001g0050 a0007c0018t0001g0051 a0017c0031t0001g0057	228	430	0.5302	1	c.196 others(4): Show c.196dupG	p.Ala others(4): Show p.Ala66fs	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	263/2269	196/1788	66/595		chr19	TogoVar
SLC22A31_chr16_89190761_89205537	89196258	GCCTGGCC others(74): Show GCCTGGCCCAGGAACCCGGCCCCCAGCACCAGGCCCAGCCCGGCCCCCCT GTGGGACAGAGTGTGTTGGGGGCAGCCAGCCT	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(169): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19059.hp1 NA19059.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2	a0002 a0005 a0006 others(3): Show a0002 a0005 a0006 a0011 a0015 a0016	a0002c0002 a0002c0004 a0002c0007 others(9): Show a0002c0002 a0002c0004 a0002c0007 a0002c0017 a0002c0020 a0002c0021 a0005c0008 a0006c0011 a0006c0023 a0011c0019 a0015c0016 a0016c0024	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(10): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0007t0001 a0002c0017t0001 a0002c0020t0001 a0002c0021t0001 a0005c0008t0001 a0006c0011t0001 a0006c0023t0001 a0011c0019t0001 a0015c0016t0001 a0016c0024t0001	a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 others(30): Show a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0014 a0002c0002t0001g0022 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0002g0039 a0002c0004t0001g0005 a0002c0004t0001g0012 a0002c0004t0001g0027 a0002c0004t0001g0032 a0002c0004t0001g0064 a0002c0004t0001g0065 a0002c0004t0001g0068 a0002c0004t0001g0070 a0002c0007t0001g0007 a0002c0007t0001g0069 a0002c0017t0001g0067 a0002c0020t0001g0037 a0002c0021t0001g0038 a0005c0008t0001g0009 a0005c0008t0001g0019 a0005c0008t0001g0057 a0006c0011t0001g0030 a0006c0011t0001g0061 a0006c0023t0001g0062 a0011c0019t0001g0071 a0015c0016t0001g0031 a0016c0024t0001g0072	172	426	0.4038	-81	c.103 others(93): Show c.1035-34_1081delAGGCTGGCTGCCCCCAACACACTCTGTCCCACA GGGGGGCCGGGCTGGGCCTGGTGCTGGGGGCCGGGTTCCTGGGCCAGG	p.Arg others(5): Show p.Arg345fs	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding	9/9	1117/1615	1035/1341	345/446		chr16	TogoVar
SLFNL1_chr1_41010597_41026725	41017902	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00544.hp2 HG00673.hp1 HG00673.hp2 others(57): Show HG00544.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01255.hp1 HG01258.hp2 HG01433.hp2 HG01891.hp2 HG01981.hp2 HG02055.hp1 HG02056.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG03098.hp2 HG03471.hp1 HG03654.hp2 HG03669.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18943.hp1 NA18960.hp2 NA18962.hp2 NA18967.hp1 NA18968.hp2 NA18974.hp2 NA18981.hp1 NA18982.hp1 NA18985.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp1 NA18999.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19011.hp1 NA19059.hp1 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19077.hp1 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp2	a0002 a0005 a0007 others(3): Show a0002 a0005 a0007 a0011 a0015 a0016	a0002c0002 a0002c0022 a0005c0007 others(6): Show a0002c0002 a0002c0022 a0005c0007 a0005c0011 a0005c0019 a0007c0008 a0011c0015 a0015c0020 a0016c0021	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(11): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0022t0003 a0005c0007t0001 a0005c0011t0001 a0005c0011t0004 a0005c0019t0001 a0007c0008t0004 a0007c0008t0006 a0011c0015t0007 a0015c0020t0003 a0016c0021t0001	a0002c0002t0001g0007 a0002c0002t0001g0022 a0002c0002t0001g0029 others(24): Show a0002c0002t0001g0007 a0002c0002t0001g0022 a0002c0002t0001g0029 a0002c0002t0001g0094 a0002c0002t0001g0103 a0002c0002t0001g0109 a0002c0002t0002g0015 a0002c0002t0002g0027 a0002c0002t0002g0078 a0002c0002t0002g0082 a0002c0002t0003g0021 a0002c0002t0003g0040 a0002c0002t0003g0054 a0002c0002t0005g0046 a0002c0002t0005g0048 a0002c0022t0003g0096 a0005c0007t0001g0011 a0005c0007t0001g0059 a0005c0007t0001g0066 a0005c0011t0001g0064 a0005c0011t0004g0051 a0005c0019t0001g0056 a0007c0008t0004g0024 a0007c0008t0006g0032 a0011c0015t0007g0087 a0015c0020t0003g0099 a0016c0021t0001g0090	60	428	0.1402	1	c.689 others(4): Show c.689dupG	p.Ser others(5): Show p.Ser231fs	SLFNL1	ENSG00000171790.16	transcript	ENST00000302946.13	protein_coding	4/6	917/1961	689/1224	230/407		chr1	TogoVar
SRMS_chr20_63533489_63552749	63542439	C C	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA19059.hp1 NA19059.hp1	a0022 a0022	a0022c0024 a0022c0024	a0022c0024t0001 a0022c0024t0001	a0022c0024t0001g0088 a0022c0024t0001g0088	1	354	0.0028	0	c.787 others(5): Show c.787+1G>T		SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding	4/7					chr20	TogoVar
THAP2_chr12_71659301_71685644	71676966	T T	A A	stop_gained stop_gained	HIGH	NA19059.hp1 NA19059.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0044 a0008c0009t0002g0044	1	372	0.0027	0	c.545 others(3): Show c.545T>A	p.Leu others(4): Show p.Leu182*	THAP2	ENSG00000173451.7	transcript	ENST00000308086.3	protein_coding	3/3	754/4432	545/687	182/228		chr12	TogoVar
TLR5_chr1_223104404_223148248	223112116	G G	A A	stop_gained stop_gained	HIGH	NA19059.hp1 NA19066.hp2 NA19089.hp1 NA19059.hp1 NA19066.hp2 NA19089.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0134 a0007c0009t0001g0150 a0007c0009t0001g0274 a0007c0009t0001g0134 a0007c0009t0001g0150 a0007c0009t0001g0274	3	366	0.0082	0	c.916 others(3): Show c.916C>T	p.Arg others(4): Show p.Arg306*	TLR5	ENSG00000187554.14	transcript	ENST00000642603.2	protein_coding	6/6	1523/4235	916/2577	306/858		chr1	TogoVar
TLR8_chrX_12901620_12928169	12906707	A A	G G	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show HG00099.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18985.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18994.hp1 NA18998.hp1 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0007 others(9): Show a0001c0001 a0001c0004 a0001c0007 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0022 a0001c0023 a0001c0024	a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 a0001c0007t0002 a0001c0007t0004 a0001c0007t0009 a0001c0011t0003 a0001c0014t0001 a0001c0015t0005 a0001c0016t0001 a0001c0017t0001 a0001c0018t0007 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0008g0001 a0001c0004t0001g0001 a0001c0004t0001g0003 a0001c0004t0001g0009 a0001c0004t0001g0063 a0001c0004t0001g0072 a0001c0004t0001g0073 a0001c0007t0002g0014 a0001c0007t0002g0025 a0001c0007t0002g0028 a0001c0007t0004g0010 a0001c0007t0004g0039 a0001c0007t0009g0010 a0001c0011t0003g0019 a0001c0011t0003g0055 a0001c0011t0003g0064 a0001c0014t0001g0056 a0001c0014t0001g0057 a0001c0014t0001g0058 a0001c0015t0005g0037 a0001c0015t0005g0065 a0001c0016t0001g0027 a0001c0017t0001g0001 a0001c0018t0007g0059 a0001c0018t0007g0070 a0001c0022t0001g0071 a0001c0023t0001g0001 a0001c0024t0001g0011	165	301	0.5482	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	TLR8	ENSG00000101916.12	transcript	ENST00000218032.7	protein_coding	1/2	88/4216	1/3126	1/1041		chrX	TogoVar
TNK1_chr17_7376089_7394742	7387376	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(53): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01255.hp1 HG01258.hp1 HG01361.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02273.hp2 HG02293.hp2 NA18943.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18970.hp2 NA18974.hp1 NA18987.hp1 NA18990.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp1 NA19012.hp2 NA19054.hp1 NA19055.hp1 NA19059.hp2 NA19063.hp1 NA19066.hp1 NA19067.hp2 NA19072.hp2 NA19078.hp1 NA19083.hp1 NA19083.hp2 NA19090.hp2 NA20805.hp1	a0001 a0003 a0008 others(3): Show a0001 a0003 a0008 a0011 a0017 a0020	a0001c0001 a0001c0002 a0001c0031 others(5): Show a0001c0001 a0001c0002 a0001c0031 a0003c0007 a0008c0016 a0011c0024 a0017c0028 a0020c0026	a0001c0001t0001 a0001c0002t0001 a0001c0031t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0031t0001 a0003c0007t0001 a0008c0016t0001 a0011c0024t0001 a0017c0028t0001 a0020c0026t0001	a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0047 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0105 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0002t0001g0056 a0001c0031t0001g0001 a0003c0007t0001g0001 a0003c0007t0001g0047 a0008c0016t0001g0001 a0011c0024t0001g0001 a0017c0028t0001g0028 a0020c0026t0001g0124	56	450	0.1244	0	c.139 others(6): Show c.1398-2A>G		TNK1	ENSG00000174292.13	transcript	ENST00000688331.1	protein_coding	9/12					chr17	TogoVar
TRHR_chr8_109081585_109126565	109087744	GCAGGCCT others(40): Show GCAGGCCTCCCCAACATAACAGACAGTATCTACGGTTCCTGGGTCTAT	G G	frameshift_variant frameshift_variant	HIGH	NA19059.hp2 NA19059.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0002 a0004c0007t0002	a0004c0007t0002g0197 a0004c0007t0002g0197	1	376	0.0027	-47	c.233 others(54): Show c.233_279delCAGGCCTCCCCAACATAACAGACAGTATCTACGGTTCC TGGGTCTAT	p.Ala others(4): Show p.Ala78fs	TRHR	ENSG00000174417.3	transcript	ENST00000518632.2	protein_coding	2/3	620/3694	233/1197	78/398		chr8	TogoVar
TRIM38_chr6_25957802_25996231	25969403	C C	T T	stop_gained stop_gained	HIGH	NA18940.hp2 NA18941.hp2 NA18948.hp1 others(11): Show NA18940.hp2 NA18941.hp2 NA18948.hp1 NA18953.hp1 NA18955.hp2 NA18973.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA19058.hp2 NA19059.hp2 NA19067.hp1 NA19076.hp1 NA19089.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0030 a0002c0003t0041 others(4): Show a0002c0003t0010 a0002c0003t0030 a0002c0003t0041 a0002c0003t0042 a0002c0003t0061 a0002c0003t0134 a0002c0003t0135	a0002c0003t0010g0011 a0002c0003t0010g0034 a0002c0003t0010g0050 others(8): Show a0002c0003t0010g0011 a0002c0003t0010g0034 a0002c0003t0010g0050 a0002c0003t0030g0122 a0002c0003t0041g0011 a0002c0003t0041g0049 a0002c0003t0042g0051 a0002c0003t0042g0052 a0002c0003t0061g0103 a0002c0003t0134g0011 a0002c0003t0135g0011	14	364	0.0385	0	c.490 others(3): Show c.490C>T	p.Arg others(4): Show p.Arg164*	TRIM38	ENSG00000112343.11	transcript	ENST00000357085.5	protein_coding	4/8	966/9418	490/1398	164/465		chr6	TogoVar
TRIM51G_chr11_48970498_48988885	48978871	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0008 a0010 a0013	a0001c0001 a0001c0006 a0001c0011 others(7): Show a0001c0001 a0001c0006 a0001c0011 a0003c0003 a0005c0007 a0006c0008 a0007c0009 a0008c0017 a0010c0012 a0013c0013	a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 a0001c0011t0001 a0003c0003t0001 a0005c0007t0001 a0006c0008t0001 a0007c0009t0001 a0008c0017t0001 a0010c0012t0001 a0013c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0004g0056 a0001c0006t0003g0032 a0001c0006t0003g0046 a0001c0006t0003g0096 a0001c0006t0003g0097 a0001c0011t0001g0119 a0003c0003t0001g0001 a0003c0003t0001g0006 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0033 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0005c0007t0001g0108 a0005c0007t0001g0109 a0005c0007t0001g0113 a0006c0008t0001g0118 a0006c0008t0001g0124 a0007c0009t0001g0123 a0008c0017t0001g0125 a0010c0012t0001g0132 a0013c0013t0001g0129	273	422	0.6469	0	c.738 others(5): Show c.738+1G>C		TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/6					chr11	TogoVar
TRIM51G_chr11_48970498_48988885	48979006	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show HG00099.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01168.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02572.hp1 HG02602.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19056.hp2 NA19059.hp2 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0002 a0011 a0012 a0002 a0011 a0012	a0002c0002 a0002c0004 a0002c0015 others(3): Show a0002c0002 a0002c0004 a0002c0015 a0002c0016 a0011c0018 a0012c0010	a0002c0002t0002 a0002c0004t0002 a0002c0015t0002 others(3): Show a0002c0002t0002 a0002c0004t0002 a0002c0015t0002 a0002c0016t0002 a0011c0018t0002 a0012c0010t0002	a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 others(57): Show a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0004t0002g0010 a0002c0004t0002g0018 a0002c0004t0002g0040 a0002c0004t0002g0041 a0002c0004t0002g0044 a0002c0004t0002g0045 a0002c0004t0002g0057 a0002c0004t0002g0062 a0002c0004t0002g0070 a0002c0004t0002g0079 a0002c0004t0002g0082 a0002c0004t0002g0084 a0002c0004t0002g0086 a0002c0004t0002g0090 a0002c0004t0002g0092 a0002c0004t0002g0094 a0002c0015t0002g0069 a0002c0016t0002g0087 a0011c0018t0002g0072 a0012c0010t0002g0067	139	422	0.3294	0	c.604 others(3): Show c.604C>T	p.Gln others(4): Show p.Gln202*	TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/7	755/1510	604/1359	202/452		chr11	TogoVar
TTI1_chr20_37978021_38038456	38002614	AGCTGCGC others(40): Show AGCTGCGCACTGACCTTCAGGCGGATTTGCAGATTTTTATCTGACAAC	A A	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19059.hp2 NA19059.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0001 a0013c0016t0001	a0013c0016t0001g0238 a0013c0016t0001g0238	1	394	0.0025	-47	c.261 others(59): Show c.2619_2652+13delGTTGTCAGATAAAAATCTGCAAATCCGCCTGAA GGTCAGTGCGCAGC	p.Leu others(5): Show p.Leu874fs	TTI1	ENSG00000101407.13	transcript	ENST00000373447.8	protein_coding	4/8		2619/3270	873/1089		chr20	TogoVar
VSIR_chr10_71742556_71778520	71760871	C C	CACTCTCC others(4): Show CACTCTCCTGGG	frameshift_variant frameshift_variant	HIGH	NA19059.hp2 NA19059.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0001 a0006c0014t0001	a0006c0014t0001g0180 a0006c0014t0001g0180	1	460	0.0022	11	c.564 others(18): Show c.564_565insCCCAGGAGAGT	p.Glu others(5): Show p.Glu189fs	VSIR	ENSG00000107738.20	transcript	ENST00000394957.8	protein_coding	3/7	645/4714	564/936	188/311		chr10	TogoVar
VWDE_chr7_12325885_12408865	12351642	T T	TA TA	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00423.hp1 HG00558.hp1 others(69): Show HG00099.hp1 HG00423.hp1 HG00558.hp1 HG00673.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG02015.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp1 NA19059.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19079.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0002 a0009 a0012 others(7): Show a0002 a0009 a0012 a0014 a0017 a0020 a0022 a0028 a0049 a0062	a0002c0002 a0002c0042 a0002c0043 others(9): Show a0002c0002 a0002c0042 a0002c0043 a0009c0064 a0012c0011 a0014c0014 a0017c0025 a0020c0019 a0022c0030 a0028c0029 a0049c0038 a0062c0059	a0002c0002t0002 a0002c0042t0002 a0002c0043t0002 others(10): Show a0002c0002t0002 a0002c0042t0002 a0002c0043t0002 a0009c0064t0001 a0012c0011t0002 a0014c0014t0001 a0014c0014t0006 a0017c0025t0001 a0020c0019t0002 a0022c0030t0001 a0028c0029t0001 a0049c0038t0002 a0062c0059t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(36): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0045 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0042t0002g0252 a0002c0043t0002g0269 a0009c0064t0001g0159 a0012c0011t0002g0015 a0012c0011t0002g0260 a0012c0011t0002g0267 a0012c0011t0002g0268 a0014c0014t0001g0018 a0014c0014t0001g0089 a0014c0014t0001g0141 a0014c0014t0006g0235 a0017c0025t0001g0109 a0017c0025t0001g0158 a0020c0019t0002g0263 a0020c0019t0002g0264 a0020c0019t0002g0265 a0022c0030t0001g0173 a0022c0030t0001g0174 a0028c0029t0001g0019 a0049c0038t0002g0257 a0062c0059t0002g0256	72	372	0.1935	1	c.381 others(5): Show c.3816dupT	p.Lys others(6): Show p.Lys1273fs	VWDE	ENSG00000146530.15	transcript	ENST00000275358.8	protein_coding	19/29	3965/5220	3816/4773	1272/1590		chr7	TogoVar
VWDE_chr7_12325885_12408865	12375099	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00423.hp1 HG00558.hp1 others(70): Show HG00099.hp1 HG00423.hp1 HG00558.hp1 HG00673.hp1 HG00741.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG02015.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19054.hp1 NA19057.hp1 NA19059.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19075.hp2 NA19079.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2	a0002 a0009 a0012 others(3): Show a0002 a0009 a0012 a0017 a0022 a0044	a0002c0002 a0002c0039 a0002c0040 others(12): Show a0002c0002 a0002c0039 a0002c0040 a0002c0041 a0002c0042 a0002c0043 a0009c0012 a0009c0026 a0009c0064 a0009c0065 a0012c0011 a0017c0025 a0017c0056 a0022c0030 a0044c0045	a0002c0002t0002 a0002c0039t0002 a0002c0040t0002 others(12): Show a0002c0002t0002 a0002c0039t0002 a0002c0040t0002 a0002c0041t0002 a0002c0042t0002 a0002c0043t0002 a0009c0012t0001 a0009c0026t0001 a0009c0064t0001 a0009c0065t0002 a0012c0011t0002 a0017c0025t0001 a0017c0056t0001 a0022c0030t0001 a0044c0045t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(37): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0045 a0002c0002t0002g0236 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0039t0002g0243 a0002c0040t0002g0249 a0002c0041t0002g0266 a0002c0042t0002g0252 a0002c0043t0002g0269 a0009c0012t0001g0016 a0009c0012t0001g0017 a0009c0012t0001g0053 a0009c0026t0001g0190 a0009c0026t0001g0223 a0009c0064t0001g0159 a0009c0065t0002g0237 a0012c0011t0002g0015 a0012c0011t0002g0260 a0012c0011t0002g0267 a0012c0011t0002g0268 a0017c0025t0001g0109 a0017c0025t0001g0158 a0017c0056t0001g0124 a0022c0030t0001g0173 a0022c0030t0001g0174 a0044c0045t0002g0271	73	372	0.1962	0	c.115 others(4): Show c.1153C>T	p.Arg others(4): Show p.Arg385*	VWDE	ENSG00000146530.15	transcript	ENST00000275358.8	protein_coding	8/29	1302/5220	1153/4773	385/1590		chr7	TogoVar
ZNF414_chr19_8504678_8519167	8511858	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00741.hp2 HG01109.hp1 others(27): Show HG00544.hp1 HG00741.hp2 HG01109.hp1 HG01175.hp1 HG01433.hp2 HG01496.hp2 HG02055.hp1 HG02615.hp2 HG02897.hp1 HG02897.hp2 HG03098.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp2 NA18981.hp1 NA18981.hp2 NA18992.hp1 NA19010.hp1 NA19030.hp2 NA19059.hp2 NA19068.hp1 NA19080.hp2 NA19083.hp2 NA19090.hp1 NA19090.hp2	a0004 a0005 a0006 a0004 a0005 a0006	a0004c0004 a0004c0010 a0005c0005 others(2): Show a0004c0004 a0004c0010 a0005c0005 a0005c0008 a0006c0006	a0004c0004t0001 a0004c0004t0011 a0004c0010t0001 others(8): Show a0004c0004t0001 a0004c0004t0011 a0004c0010t0001 a0005c0005t0002 a0005c0005t0004 a0005c0005t0006 a0005c0008t0010 a0006c0006t0003 a0006c0006t0005 a0006c0006t0014 a0006c0006t0031	a0004c0004t0001g0008 a0004c0004t0001g0016 a0004c0004t0011g0044 others(12): Show a0004c0004t0001g0008 a0004c0004t0001g0016 a0004c0004t0011g0044 a0004c0010t0001g0042 a0005c0005t0002g0015 a0005c0005t0002g0040 a0005c0005t0002g0052 a0005c0005t0004g0031 a0005c0005t0006g0011 a0005c0008t0010g0051 a0006c0006t0003g0058 a0006c0006t0003g0064 a0006c0006t0005g0027 a0006c0006t0014g0065 a0006c0006t0031g0059	30	420	0.0714	1	c.632 others(4): Show c.632dupC	p.Ala others(5): Show p.Ala212fs	ZNF414	ENSG00000133250.14	transcript	ENST00000393927.9	protein_coding	5/8	753/2307	632/1173	211/390		chr19	TogoVar
ZNF444_chr19_56136287_56165893	56159891	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG01496.hp2 NA18963.hp1 NA18965.hp1 others(3): Show HG01496.hp2 NA18963.hp1 NA18965.hp1 NA18974.hp1 NA18978.hp1 NA19059.hp1	a0003 a0003	a0003c0006 a0003c0008 a0003c0014 a0003c0006 a0003c0008 a0003c0014	a0003c0006t0001 a0003c0006t0002 a0003c0008t0003 others(2): Show a0003c0006t0001 a0003c0006t0002 a0003c0008t0003 a0003c0008t0007 a0003c0014t0001	a0003c0006t0001g0001 a0003c0006t0001g0120 a0003c0006t0002g0010 others(3): Show a0003c0006t0001g0001 a0003c0006t0001g0120 a0003c0006t0002g0010 a0003c0008t0003g0148 a0003c0008t0007g0112 a0003c0014t0001g0104	6	414	0.0145	1	c.676 others(4): Show c.676dupC	p.Arg others(5): Show p.Arg226fs	ZNF444	ENSG00000167685.15	transcript	ENST00000337080.8	protein_coding	5/5	944/1943	677/984	226/327	INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF528_chr19_52392849_52423401	52401662	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp2 NA19059.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19072.hp1 NA19074.hp2 NA19076.hp2 NA19078.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0010	a0001c0001 a0001c0010 a0002c0002 others(6): Show a0001c0001 a0001c0010 a0002c0002 a0004c0004 a0005c0005 a0006c0008 a0007c0011 a0008c0014 a0010c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0010t0001 a0002c0002t0005 a0004c0004t0001 a0005c0005t0003 a0006c0008t0001 a0007c0011t0003 a0008c0014t0003 a0010c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(90): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0002g0054 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0141 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0198 a0001c0001t0003g0004 a0001c0001t0003g0024 a0001c0001t0003g0041 a0001c0001t0003g0076 a0001c0001t0003g0084 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0139 a0001c0001t0003g0190 a0001c0001t0006g0020 a0001c0001t0007g0102 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0013g0001 a0001c0001t0019g0002 a0001c0001t0020g0079 a0001c0001t0023g0058 a0001c0010t0001g0001 a0002c0002t0005g0012 a0002c0002t0005g0167 a0004c0004t0001g0001 a0005c0005t0003g0101 a0005c0005t0003g0169 a0006c0008t0001g0001 a0007c0011t0003g0004 a0008c0014t0003g0004 a0010c0012t0001g0082	227	413	0.5496	1	c.-13 others(7): Show c.-136-3dupT		ZNF528	ENSG00000167555.14	transcript	ENST00000360465.8	protein_coding	2/6				INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF528_chr19_52392849_52423401	52401662	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00609.hp2 HG00673.hp2 others(38): Show HG00438.hp1 HG00609.hp2 HG00673.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01257.hp2 HG01496.hp2 HG02056.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02717.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18953.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18999.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp1 NA19058.hp1 NA19059.hp2 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19084.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 a0004c0004t0001	a0001c0001t0001g0043 a0001c0001t0001g0122 a0001c0001t0001g0175 others(9): Show a0001c0001t0001g0043 a0001c0001t0001g0122 a0001c0001t0001g0175 a0001c0001t0003g0003 a0001c0001t0003g0044 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0194 a0001c0001t0003g0202 a0001c0001t0007g0174 a0001c0001t0018g0173 a0004c0004t0001g0121	41	227	0.1806	2	c.-13 others(15): Show c.-136-4_-136-3dupTT		ZNF528	ENSG00000167555.14	transcript	ENST00000360465.8	protein_coding	2/6				INFO_REALIGN_3_PRIME	chr19	TogoVar

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