Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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	distance	status	chr	external
IDS_chrX_149471988_149510306	149505096	AC AC	A A	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0011 a0011	a0011c0013 a0011c0013	a0011c0013t0042 a0011c0013t0042	a0011c0013t0042g0155 a0011c0013t0042g0155	1	303	0.0033	-1	c.41d others(3): Show c.41delG	p.Gly others(4): Show p.Gly14fs	IDS	ENSG00000010404.18	transcript	ENST00000340855.11	protein_coding	1/9	210/7580	41/1653	14/550			chrX	TogoVar
IFNA10_chr9_21201181_21212143	21207038	A A	T T	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show HG00099.hp1 HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0004 others(9): Show a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0006 a0002c0007 a0002c0009 a0002c0010 a0002c0013 a0002c0015 a0002c0016 a0002c0017	a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 others(13): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0013 a0002c0003t0001 a0002c0003t0005 a0002c0003t0007 a0002c0004t0002 a0002c0005t0002 a0002c0006t0004 a0002c0007t0004 a0002c0009t0006 a0002c0010t0004 a0002c0013t0002 a0002c0015t0002 a0002c0016t0005 a0002c0017t0011	a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 others(13): Show a0002c0002t0002g0000 a0002c0002t0012g0000 a0002c0002t0013g0000 a0002c0003t0001g0000 a0002c0003t0005g0000 a0002c0003t0007g0000 a0002c0004t0002g0000 a0002c0005t0002g0000 a0002c0006t0004g0000 a0002c0007t0004g0000 a0002c0009t0006g0000 a0002c0010t0004g0000 a0002c0013t0002g0000 a0002c0015t0002g0000 a0002c0016t0005g0000 a0002c0017t0011g0000	194	457	0.4245	0	c.60T others(2): Show c.60T>A	p.Cys others(3): Show p.Cys20*	IFNA10	ENSG00000186803.3	transcript	ENST00000357374.2	protein_coding	1/1	106/963	60/570	20/189			chr9	TogoVar
IGFN1_chr1_201185824_201233952	201208962	A A	T T	stop_gained stop_gained	HIGH	NA18974.hp1 NA18974.hp1	a0081 a0081	a0081c0109 a0081c0109	a0081c0109t0001 a0081c0109t0001	a0081c0109t0001g0125 a0081c0109t0001g0125	1	428	0.0023	0	c.406 others(4): Show c.4069A>T	p.Lys others(5): Show p.Lys1357*	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	4200/11811	4069/11127	1357/3708			chr1	TogoVar
IGFN1_chr1_201185824_201233952	201210972	C C	CGGTCAAT others(210): Show CGGTCAATGGATGAGGCAGGTTATAGGAAGGATTTGGGGGCTCCTAAGGG AATGGGTTCAGGCAGTAAGGCAAGTTTTAGGGATGGTTTAGGGGGGTTCT GGAGAAATGGGGTCAGTGAATGAAGCAGGTTATAGGAAGGATTTGGGGGC TCCTAAGGGAATGGGTTCAGGGAGCAAGGCAGGTTTTAGGGATGGTTTAG GGAGTTCTGGGGAAATGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18974.hp1 NA18974.hp1	a0081 a0081	a0081c0109 a0081c0109	a0081c0109t0001 a0081c0109t0001	a0081c0109t0001g0125 a0081c0109t0001g0125	1	428	0.0023	217	c.612 others(226): Show c.6123_6124insAAGGGAATGGGTTCAGGCAGTAAGGCAAGTTTTAGG GATGGTTTAGGGGGGTTCTGGAGAAATGGGGTCAGTGAATGAAGCAGGTT ATAGGAAGGATTTGGGGGCTCCTAAGGGAATGGGTTCAGGGAGCAAGGCA GGTTTTAGGGATGGTTTAGGGAGTTCTGGGGAAATGGGGTCAATGGATGA GGCAGGTTATAGGAAGGATTTGGGGGCTCCT	p.Glu others(6): Show p.Glu2042fs	IGFN1	ENSG00000163395.17	transcript	ENST00000335211.9	protein_coding	12/24	6255/11811	6124/11127	2042/3708		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL13RA1_chrX_118722606_118799533	118727695	C C	CG CG	frameshift_variant frameshift_variant	HIGH	NA18974.hp2 NA19001.hp1 NA19078.hp1 NA18974.hp2 NA19001.hp1 NA19078.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0015 a0002c0003t0001 a0002c0003t0015	a0002c0003t0001g0122 a0002c0003t0001g0251 a0002c0003t0015g0091 a0002c0003t0001g0122 a0002c0003t0001g0251 a0002c0003t0015g0091	3	280	0.0107	1	c.62d others(3): Show c.62dupG	p.Gly others(4): Show p.Gly22fs	IL13RA1	ENSG00000131724.11	transcript	ENST00000371666.8	protein_coding	1/11	96/3996	63/1284	21/427		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL17RB_chr3_53841568_53870794	53865249	C C	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(51): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01255.hp1 HG01433.hp1 HG01515.hp2 HG01978.hp2 HG01981.hp1 HG02074.hp1 HG02132.hp2 HG02135.hp2 HG02602.hp2 HG02735.hp2 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp2 NA18747.hp2 NA18906.hp1 NA18942.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18965.hp1 NA18969.hp2 NA18972.hp1 NA18974.hp1 NA18980.hp2 NA18993.hp1 NA18995.hp2 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19063.hp1 NA19067.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20300.hp2	a0002 a0002	a0002c0005 a0002c0007 a0002c0005 a0002c0007	a0002c0005t0001 a0002c0007t0001 a0002c0007t0006 others(1): Show a0002c0005t0001 a0002c0007t0001 a0002c0007t0006 a0002c0007t0007	a0002c0005t0001g0006 a0002c0005t0001g0027 a0002c0005t0001g0028 others(33): Show a0002c0005t0001g0006 a0002c0005t0001g0027 a0002c0005t0001g0028 a0002c0005t0001g0034 a0002c0005t0001g0047 a0002c0005t0001g0057 a0002c0005t0001g0153 a0002c0005t0001g0154 a0002c0005t0001g0155 a0002c0005t0001g0159 a0002c0005t0001g0160 a0002c0005t0001g0161 a0002c0005t0001g0162 a0002c0005t0001g0163 a0002c0005t0001g0164 a0002c0005t0001g0168 a0002c0005t0001g0182 a0002c0005t0001g0199 a0002c0005t0001g0207 a0002c0005t0001g0209 a0002c0005t0001g0213 a0002c0005t0001g0214 a0002c0005t0001g0249 a0002c0005t0001g0250 a0002c0005t0001g0270 a0002c0005t0001g0272 a0002c0007t0001g0024 a0002c0007t0001g0035 a0002c0007t0001g0093 a0002c0007t0001g0126 a0002c0007t0006g0122 a0002c0007t0006g0123 a0002c0007t0006g0124 a0002c0007t0006g0125 a0002c0007t0007g0036 a0002c0007t0007g0098	54	450	0.1200	0	c.145 others(4): Show c.1450C>T	p.Gln others(4): Show p.Gln484*	IL17RB	ENSG00000056736.10	transcript	ENST00000288167.8	protein_coding	11/11	1471/2016	1450/1509	484/502			chr3	TogoVar
IL9R_chrX_155992696_156015817	156005381	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0020 a0020	a0020c0017 a0020c0017	a0020c0017t0001 a0020c0017t0001	a0020c0017t0001g0113 a0020c0017t0001g0113	1	220	0.0046	-1	c.685 others(4): Show c.685delG	p.Ala others(5): Show p.Ala229fs	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	6/9	749/2038	685/1566	229/521		INFO_REALIGN_3_PRIME	chrX	TogoVar
IQCA1L_chr7_151185873_151210496	151195597	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp2 HG00621.hp1 HG00639.hp2 others(129): Show HG00408.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18945.hp1 NA18947.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18980.hp2 NA18992.hp2 NA18994.hp1 NA18997.hp1 NA19000.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19065.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0002 a0005 a0008 others(8): Show a0002 a0005 a0008 a0009 a0014 a0016 a0018 a0028 a0033 a0037 a0045	a0002c0003 a0002c0012 a0002c0015 others(26): Show a0002c0003 a0002c0012 a0002c0015 a0002c0025 a0002c0036 a0002c0037 a0002c0075 a0002c0076 a0002c0087 a0002c0102 a0005c0005 a0005c0019 a0005c0097 a0008c0024 a0008c0030 a0008c0042 a0008c0043 a0009c0011 a0014c0026 a0014c0028 a0016c0022 a0016c0081 a0018c0035 a0018c0073 a0018c0074 a0028c0041 a0033c0095 a0037c0086 a0045c0067	a0002c0003t0001 a0002c0012t0001 a0002c0015t0001 others(26): Show a0002c0003t0001 a0002c0012t0001 a0002c0015t0001 a0002c0025t0001 a0002c0036t0001 a0002c0037t0001 a0002c0075t0001 a0002c0076t0001 a0002c0087t0001 a0002c0102t0001 a0005c0005t0001 a0005c0019t0001 a0005c0097t0001 a0008c0024t0001 a0008c0030t0001 a0008c0042t0001 a0008c0043t0001 a0009c0011t0001 a0014c0026t0001 a0014c0028t0001 a0016c0022t0001 a0016c0081t0001 a0018c0035t0001 a0018c0073t0001 a0018c0074t0001 a0028c0041t0001 a0033c0095t0001 a0037c0086t0001 a0045c0067t0001	a0002c0003t0001g0007 a0002c0003t0001g0023 a0002c0003t0001g0026 others(80): Show a0002c0003t0001g0007 a0002c0003t0001g0023 a0002c0003t0001g0026 a0002c0003t0001g0028 a0002c0003t0001g0041 a0002c0003t0001g0042 a0002c0003t0001g0053 a0002c0003t0001g0101 a0002c0003t0001g0108 a0002c0003t0001g0152 a0002c0003t0001g0180 a0002c0003t0001g0182 a0002c0003t0001g0190 a0002c0012t0001g0013 a0002c0012t0001g0107 a0002c0012t0001g0134 a0002c0012t0001g0151 a0002c0012t0001g0154 a0002c0012t0001g0179 a0002c0012t0001g0183 a0002c0012t0001g0189 a0002c0015t0001g0003 a0002c0025t0001g0030 a0002c0025t0001g0275 a0002c0025t0001g0276 a0002c0036t0001g0153 a0002c0036t0001g0178 a0002c0037t0001g0116 a0002c0037t0001g0135 a0002c0075t0001g0188 a0002c0076t0001g0131 a0002c0087t0001g0124 a0002c0102t0001g0277 a0005c0005t0001g0006 a0005c0005t0001g0059 a0005c0005t0001g0060 a0005c0005t0001g0064 a0005c0005t0001g0067 a0005c0005t0001g0201 a0005c0005t0001g0207 a0005c0005t0001g0220 a0005c0005t0001g0221 a0005c0005t0001g0226 a0005c0005t0001g0235 a0005c0019t0001g0061 a0005c0019t0001g0224 a0005c0019t0001g0227 a0005c0019t0001g0233 a0005c0019t0001g0292 a0005c0097t0001g0234 a0008c0024t0001g0062 a0008c0024t0001g0208 a0008c0024t0001g0211 a0008c0024t0001g0245 a0008c0030t0001g0056 a0008c0030t0001g0246 a0008c0042t0001g0209 a0008c0042t0001g0249 a0008c0043t0001g0242 a0008c0043t0001g0255 a0009c0011t0001g0004 a0009c0011t0001g0193 a0009c0011t0001g0195 a0009c0011t0001g0196 a0014c0026t0001g0075 a0014c0026t0001g0086 a0014c0026t0001g0087 a0014c0026t0001g0088 a0014c0028t0001g0020 a0016c0022t0001g0112 a0016c0022t0001g0129 a0016c0022t0001g0167 a0016c0022t0001g0168 a0016c0022t0001g0170 a0016c0081t0001g0118 a0018c0035t0001g0176 a0018c0035t0001g0177 a0018c0073t0001g0119 a0018c0074t0001g0175 a0028c0041t0001g0055 a0033c0095t0001g0204 a0037c0086t0001g0100 a0045c0067t0001g0192	132	448	0.2946	-1	c.137 others(5): Show c.1375delG	p.Glu others(5): Show p.Glu459fs	IQCA1L	ENSG00000278685.4	transcript	ENST00000615129.4	protein_coding	11/19	1417/2606	1375/2457	459/818			chr7	TogoVar
IQSEC2_chrX_53227876_53326350	53234604	A A	AG AG	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA19076.hp1 NA18974.hp1 NA19076.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0005 a0002c0006t0001g0068 a0002c0006t0001g0005 a0002c0006t0001g0068	2	213	0.0094	1	c.408 others(5): Show c.4081dupC	p.Leu others(6): Show p.Leu1361fs	IQSEC2	ENSG00000124313.19	transcript	ENST00000642864.1	protein_coding	15/15	4308/6037	4081/4467	1361/1488			chrX	TogoVar
IRF2BP1_chr19_45878608_45891141	45884308	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00735.hp2 HG01099.hp1 HG01099.hp2 others(11): Show HG00735.hp2 HG01099.hp1 HG01099.hp2 HG01496.hp1 HG02523.hp2 HG03669.hp1 NA18969.hp1 NA18974.hp2 NA18981.hp1 NA18987.hp1 NA18997.hp1 NA19012.hp2 NA19059.hp2 NA19068.hp1	a0003 a0004 a0006 others(1): Show a0003 a0004 a0006 a0007	a0003c0007 a0004c0008 a0006c0016 others(1): Show a0003c0007 a0004c0008 a0006c0016 a0007c0013	a0003c0007t0001 a0003c0007t0002 a0004c0008t0001 others(2): Show a0003c0007t0001 a0003c0007t0002 a0004c0008t0001 a0006c0016t0002 a0007c0013t0001	a0003c0007t0001g0000 a0003c0007t0002g0000 a0004c0008t0001g0000 others(2): Show a0003c0007t0001g0000 a0003c0007t0002g0000 a0004c0008t0001g0000 a0006c0016t0002g0000 a0007c0013t0001g0000	14	416	0.0337	1	c.146 others(5): Show c.1466dupG	p.Gly others(5): Show p.Gly490fs	IRF2BP1	ENSG00000170604.5	transcript	ENST00000302165.5	protein_coding	1/1	1833/2534	1466/1755	489/584			chr19	TogoVar
JMJD8_chr16_676670_689334	683719	C C	CCGGACCA others(13): Show CCGGACCACTCTGTCCCCAAA	frameshift_variant frameshift_variant	HIGH	NA18974.hp2 NA18979.hp2 NA18974.hp2 NA18979.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0017 a0004c0008t0001g0017	2	364	0.0055	20	c.268 others(27): Show c.268_287dupTTTGGGGACAGAGTGGTCCG	p.Ser others(4): Show p.Ser98fs	JMJD8	ENSG00000161999.13	transcript	ENST00000609261.6	protein_coding	4/9	302/1934	287/795	96/264			chr16	TogoVar
JSRP1_chr19_2247252_2261417	2255312	C C	G G	start_lost start_lost	HIGH	HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00738.hp1 HG01069.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01346.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18942.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp2 NA18963.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp2	a0003 a0004 a0008 others(1): Show a0003 a0004 a0008 a0012	a0003c0003 a0003c0010 a0003c0011 others(4): Show a0003c0003 a0003c0010 a0003c0011 a0003c0014 a0004c0004 a0008c0008 a0012c0013	a0003c0003t0001 a0003c0010t0001 a0003c0011t0001 others(4): Show a0003c0003t0001 a0003c0010t0001 a0003c0011t0001 a0003c0014t0001 a0004c0004t0001 a0008c0008t0001 a0012c0013t0001	a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0011 others(23): Show a0003c0003t0001g0006 a0003c0003t0001g0007 a0003c0003t0001g0011 a0003c0003t0001g0014 a0003c0003t0001g0025 a0003c0003t0001g0036 a0003c0003t0001g0041 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0076 a0003c0010t0001g0039 a0003c0010t0001g0043 a0003c0011t0001g0026 a0003c0014t0001g0042 a0004c0004t0001g0004 a0004c0004t0001g0021 a0004c0004t0001g0027 a0004c0004t0001g0038 a0004c0004t0001g0040 a0008c0008t0001g0022 a0012c0013t0001g0044	114	436	0.2615	0	c.3G> others(1): Show c.3G>C	p.Met others(2): Show p.Met1?	JSRP1	ENSG00000167476.10	transcript	ENST00000300961.10	protein_coding	2/7	68/1138	3/996	1/331			chr19	TogoVar
KIAA0513_chr16_85022795_85099218	85071765	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show HG00423.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp2 HG01109.hp2 HG01243.hp1 HG01346.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03927.hp2 HG03942.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19010.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0010 a0001c0001 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0042 a0001c0001t0044 a0001c0001t0045 a0001c0001t0048 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0057 a0001c0001t0063 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0095 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0113 a0001c0005t0019 a0001c0010t0001	a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 others(106): Show a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0062 a0001c0001t0001g0101 a0001c0001t0001g0177 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0006g0001 a0001c0001t0006g0040 a0001c0001t0006g0105 a0001c0001t0006g0132 a0001c0001t0006g0295 a0001c0001t0006g0296 a0001c0001t0006g0299 a0001c0001t0006g0303 a0001c0001t0006g0304 a0001c0001t0006g0319 a0001c0001t0011g0238 a0001c0001t0011g0259 a0001c0001t0012g0016 a0001c0001t0012g0324 a0001c0001t0012g0328 a0001c0001t0012g0329 a0001c0001t0013g0285 a0001c0001t0013g0302 a0001c0001t0013g0308 a0001c0001t0013g0315 a0001c0001t0020g0194 a0001c0001t0026g0233 a0001c0001t0028g0264 a0001c0001t0028g0273 a0001c0001t0029g0278 a0001c0001t0029g0314 a0001c0001t0032g0014 a0001c0001t0032g0256 a0001c0001t0033g0321 a0001c0001t0033g0322 a0001c0001t0042g0207 a0001c0001t0044g0023 a0001c0001t0044g0036 a0001c0001t0045g0099 a0001c0001t0045g0100 a0001c0001t0048g0248 a0001c0001t0049g0294 a0001c0001t0051g0312 a0001c0001t0052g0291 a0001c0001t0053g0001 a0001c0001t0055g0228 a0001c0001t0057g0229 a0001c0001t0063g0334 a0001c0001t0067g0042 a0001c0001t0068g0225 a0001c0001t0069g0297 a0001c0001t0071g0236 a0001c0001t0072g0254 a0001c0001t0073g0098 a0001c0001t0074g0318 a0001c0001t0075g0252 a0001c0001t0095g0262 a0001c0001t0105g0206 a0001c0001t0106g0016 a0001c0001t0107g0208 a0001c0001t0113g0025 a0001c0005t0019g0095 a0001c0010t0001g0219	111	390	0.2846	1	c.330 others(6): Show c.330-3dupT		KIAA0513	ENSG00000135709.14	transcript	ENST00000683363.1	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
KLK12_chr19_51024094_51040002	51031874	A A	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0003 a0001c0001 a0001c0007 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0007t0001 a0002c0003t0003 a0002c0003t0006	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(97): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0153 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0007t0001g0070 a0002c0003t0003g0105 a0002c0003t0003g0106 a0002c0003t0003g0107 a0002c0003t0003g0108 a0002c0003t0003g0109 a0002c0003t0006g0155	251	448	0.5603	0	c.457 others(5): Show c.457+2T>C		KLK12	ENSG00000186474.16	transcript	ENST00000684732.1	protein_coding	4/5						chr19	TogoVar
KRBA1_chr7_149709951_149739575	149723729	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(279): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0022 a0025 a0026 a0027	a0001c0001 a0001c0009 a0001c0025 others(24): Show a0001c0001 a0001c0009 a0001c0025 a0001c0028 a0002c0004 a0002c0005 a0003c0002 a0003c0018 a0004c0003 a0004c0020 a0006c0008 a0006c0033 a0007c0007 a0008c0010 a0009c0011 a0010c0012 a0011c0013 a0012c0014 a0014c0016 a0015c0017 a0016c0034 a0017c0032 a0018c0019 a0022c0024 a0025c0030 a0026c0021 a0027c0036	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0009t0001 a0001c0009t0004 a0001c0025t0001 a0001c0028t0001 a0002c0004t0001 a0002c0004t0006 a0002c0005t0001 a0002c0005t0007 a0003c0002t0001 a0003c0018t0001 a0004c0003t0001 a0004c0020t0001 a0006c0008t0003 a0006c0033t0003 a0007c0007t0001 a0008c0010t0001 a0009c0011t0001 a0010c0012t0001 a0011c0013t0001 a0012c0014t0001 a0014c0016t0001 a0015c0017t0001 a0016c0034t0001 a0017c0032t0001 a0018c0019t0001 a0022c0024t0001 a0025c0030t0001 a0026c0021t0001 a0027c0036t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(137): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0004g0038 a0001c0001t0005g0159 a0001c0001t0008g0004 a0001c0009t0001g0012 a0001c0009t0001g0120 a0001c0009t0004g0038 a0001c0025t0001g0019 a0001c0028t0001g0092 a0002c0004t0001g0010 a0002c0004t0001g0012 a0002c0004t0001g0029 a0002c0004t0001g0041 a0002c0004t0001g0047 a0002c0004t0001g0122 a0002c0004t0001g0123 a0002c0004t0001g0133 a0002c0004t0001g0134 a0002c0004t0001g0163 a0002c0004t0006g0010 a0002c0005t0001g0040 a0002c0005t0001g0048 a0002c0005t0001g0049 a0002c0005t0001g0050 a0002c0005t0001g0051 a0002c0005t0001g0052 a0002c0005t0001g0129 a0002c0005t0007g0040 a0003c0002t0001g0011 a0003c0002t0001g0015 a0003c0002t0001g0018 a0003c0002t0001g0030 a0003c0002t0001g0042 a0003c0002t0001g0136 a0003c0002t0001g0144 a0003c0002t0001g0145 a0003c0002t0001g0146 a0003c0002t0001g0148 a0003c0002t0001g0149 a0003c0002t0001g0150 a0003c0018t0001g0011 a0004c0003t0001g0005 a0004c0003t0001g0006 a0004c0003t0001g0125 a0004c0003t0001g0135 a0004c0003t0001g0138 a0004c0003t0001g0139 a0004c0003t0001g0140 a0004c0003t0001g0141 a0004c0003t0001g0142 a0004c0003t0001g0151 a0004c0020t0001g0124 a0006c0008t0003g0032 a0006c0008t0003g0046 a0006c0008t0003g0162 a0006c0033t0003g0046 a0007c0007t0001g0020 a0007c0007t0001g0153 a0008c0010t0001g0005 a0009c0011t0001g0013 a0009c0011t0001g0083 a0010c0012t0001g0053 a0010c0012t0001g0080 a0011c0013t0001g0130 a0011c0013t0001g0131 a0011c0013t0001g0132 a0012c0014t0001g0004 a0014c0016t0001g0043 a0015c0017t0001g0164 a0016c0034t0001g0024 a0017c0032t0001g0128 a0018c0019t0001g0137 a0022c0024t0001g0002 a0025c0030t0001g0152 a0026c0021t0001g0002 a0027c0036t0001g0002	282	414	0.6812	1	c.875 others(6): Show c.875-3dupT		KRBA1	ENSG00000133619.18	transcript	ENST00000496259.6	protein_coding	7/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
KRT24_chr17_40692991_40708752	40701882	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(201): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02896.hp1 HG02965.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0010 a0012 a0001 a0010 a0012	a0001c0001 a0001c0013 a0001c0014 others(3): Show a0001c0001 a0001c0013 a0001c0014 a0001c0015 a0010c0012 a0012c0016	a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0013t0001 a0001c0014t0002 a0001c0015t0001 a0010c0012t0001 a0012c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 others(54): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0028 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0013t0001g0082 a0001c0014t0002g0086 a0001c0015t0001g0094 a0010c0012t0001g0156 a0010c0012t0001g0157 a0012c0016t0001g0149	204	424	0.4811	-1	c.666 others(4): Show c.666delT	p.Asn others(5): Show p.Asn222fs	KRT24	ENSG00000167916.5	transcript	ENST00000264651.3	protein_coding	2/8	725/1883	666/1578	222/525			chr17	TogoVar
KRTAP19-6_chr21_30536535_30546864	30541662	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(301): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 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 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0000	a0000c0001 a0000c0003 a0000c0004 others(2): Show a0000c0001 a0000c0003 a0000c0004 a0000c0005 a0000c0006	a0000c0001t0001 a0000c0003t0001 a0000c0004t0001 others(2): Show a0000c0001t0001 a0000c0003t0001 a0000c0004t0001 a0000c0005t0001 a0000c0006t0001	a0000c0001t0001g0000 a0000c0003t0001g0000 a0000c0004t0001g0000 others(2): Show a0000c0001t0001g0000 a0000c0003t0001g0000 a0000c0004t0001g0000 a0000c0005t0001g0000 a0000c0006t0001g0000	304	394	0.7716	-1	c.171 others(4): Show c.171delC	p.Tyr others(4): Show p.Tyr58fs	KRTAP19-6	ENSG00000186925.6	transcript	ENST00000334046.5	protein_coding	1/1	202/330	171/177	57/58			chr21	TogoVar
LANCL3_chrX_37566661_37689463	37659479	T T	TC TC	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0011 a0004c0008t0011	a0004c0008t0011g0130 a0004c0008t0011g0130	1	201	0.0050	1	c.716 others(4): Show c.716dupC	p.Ser others(5): Show p.Ser240fs	LANCL3	ENSG00000147036.12	transcript	ENST00000378619.4	protein_coding	3/5	927/10123	717/1263	239/420		INFO_REALIGN_3_PRIME	chrX	TogoVar
LCE1F_chr1_152770140_152782024	152776419	C C	A A	stop_gained stop_gained	HIGH	NA18954.hp1 NA18966.hp2 NA18974.hp2 others(1): Show NA18954.hp1 NA18966.hp2 NA18974.hp2 NA18994.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0003 a0004c0004t0001g0003	4	438	0.0091	0	c.48C others(2): Show c.48C>A	p.Cys others(3): Show p.Cys16*	LCE1F	ENSG00000240386.4	transcript	ENST00000334371.4	protein_coding	2/2	121/726	48/357	16/118			chr1	TogoVar
LCE2B_chr1_152681123_152692397	152686157	G G	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	NA18957.hp1 NA18974.hp1 NA18987.hp2 others(1): Show NA18957.hp1 NA18974.hp1 NA18987.hp2 NA19063.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0011 a0001c0001 a0007c0011	a0001c0001t0001 a0007c0011t0001 a0001c0001t0001 a0007c0011t0001	a0001c0001t0001g0007 a0007c0011t0001g0007 a0001c0001t0001g0007 a0007c0011t0001g0007	4	446	0.0090	0	c.-21 others(5): Show c.-21+1G>C		LCE2B	ENSG00000159455.9	transcript	ENST00000368780.4	protein_coding	1/1						chr1	TogoVar
LILRA6_chr19_54231590_54247790	54240484	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(189): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18976.hp1 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19084.hp2 NA19089.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(34): Show a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0012 a0015 a0016 a0022 a0023 a0025 a0032 a0034 a0035 a0036 a0038 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0063 a0070	a0002c0002 a0002c0027 a0002c0028 others(40): Show a0002c0002 a0002c0027 a0002c0028 a0002c0070 a0003c0003 a0003c0062 a0004c0004 a0006c0005 a0007c0007 a0007c0050 a0008c0008 a0010c0012 a0012c0011 a0015c0010 a0016c0016 a0022c0021 a0023c0075 a0023c0076 a0025c0026 a0032c0046 a0034c0052 a0035c0053 a0036c0079 a0038c0078 a0040c0065 a0041c0067 a0042c0064 a0043c0068 a0044c0074 a0045c0071 a0046c0069 a0047c0072 a0049c0063 a0050c0056 a0051c0057 a0052c0059 a0053c0058 a0054c0060 a0055c0061 a0056c0055 a0057c0054 a0063c0030 a0070c0049	a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 others(71): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0014 a0002c0002t0019 a0002c0002t0023 a0002c0002t0064 a0002c0002t0065 a0002c0027t0024 a0002c0028t0003 a0002c0070t0010 a0003c0003t0003 a0003c0003t0004 a0003c0003t0007 a0003c0003t0016 a0003c0003t0058 a0003c0003t0063 a0003c0062t0059 a0004c0004t0006 a0004c0004t0020 a0004c0004t0062 a0006c0005t0005 a0006c0005t0013 a0007c0007t0009 a0007c0007t0013 a0007c0007t0018 a0007c0050t0009 a0008c0008t0003 a0008c0008t0004 a0008c0008t0019 a0010c0012t0011 a0010c0012t0012 a0010c0012t0066 a0010c0012t0068 a0012c0011t0005 a0015c0010t0009 a0015c0010t0013 a0015c0010t0018 a0015c0010t0022 a0015c0010t0054 a0016c0016t0004 a0016c0016t0008 a0022c0021t0003 a0023c0075t0008 a0023c0076t0016 a0025c0026t0010 a0032c0046t0046 a0034c0052t0069 a0035c0053t0060 a0036c0079t0055 a0038c0078t0019 a0040c0065t0071 a0041c0067t0011 a0042c0064t0067 a0043c0068t0070 a0044c0074t0003 a0045c0071t0073 a0046c0069t0006 a0047c0072t0003 a0049c0063t0004 a0050c0056t0018 a0051c0057t0022 a0052c0059t0005 a0053c0058t0005 a0054c0060t0013 a0055c0061t0005 a0056c0055t0004 a0057c0054t0057 a0063c0030t0002 a0070c0049t0009	a0002c0002t0003g0002 a0002c0002t0003g0043 a0002c0002t0003g0140 others(97): Show a0002c0002t0003g0002 a0002c0002t0003g0043 a0002c0002t0003g0140 a0002c0002t0003g0152 a0002c0002t0003g0155 a0002c0002t0003g0156 a0002c0002t0003g0167 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0004g0006 a0002c0002t0004g0139 a0002c0002t0004g0174 a0002c0002t0007g0027 a0002c0002t0007g0172 a0002c0002t0007g0175 a0002c0002t0008g0017 a0002c0002t0008g0171 a0002c0002t0010g0029 a0002c0002t0010g0176 a0002c0002t0011g0030 a0002c0002t0011g0200 a0002c0002t0012g0046 a0002c0002t0014g0016 a0002c0002t0014g0160 a0002c0002t0019g0173 a0002c0002t0023g0202 a0002c0002t0023g0203 a0002c0002t0064g0170 a0002c0002t0065g0159 a0002c0027t0024g0047 a0002c0028t0003g0187 a0002c0028t0003g0188 a0002c0070t0010g0166 a0003c0003t0003g0143 a0003c0003t0003g0145 a0003c0003t0003g0148 a0003c0003t0004g0040 a0003c0003t0007g0010 a0003c0003t0007g0141 a0003c0003t0016g0147 a0003c0003t0016g0149 a0003c0003t0016g0150 a0003c0003t0058g0146 a0003c0003t0063g0144 a0003c0062t0059g0142 a0004c0004t0006g0011 a0004c0004t0006g0137 a0004c0004t0006g0163 a0004c0004t0020g0041 a0004c0004t0062g0165 a0006c0005t0005g0009 a0006c0005t0013g0038 a0007c0007t0009g0025 a0007c0007t0009g0121 a0007c0007t0013g0124 a0007c0007t0018g0123 a0007c0050t0009g0127 a0008c0008t0003g0183 a0008c0008t0004g0019 a0008c0008t0019g0182 a0010c0012t0011g0195 a0010c0012t0012g0045 a0010c0012t0066g0198 a0010c0012t0068g0197 a0012c0011t0005g0014 a0015c0010t0009g0119 a0015c0010t0013g0122 a0015c0010t0018g0120 a0015c0010t0022g0125 a0015c0010t0054g0118 a0016c0016t0004g0028 a0016c0016t0008g0162 a0022c0021t0003g0026 a0023c0075t0008g0180 a0023c0076t0016g0181 a0025c0026t0010g0042 a0032c0046t0046g0104 a0034c0052t0069g0189 a0035c0053t0060g0186 a0036c0079t0055g0134 a0038c0078t0019g0157 a0040c0065t0071g0191 a0041c0067t0011g0194 a0042c0064t0067g0190 a0043c0068t0070g0196 a0044c0074t0003g0154 a0045c0071t0073g0205 a0046c0069t0006g0164 a0047c0072t0003g0158 a0049c0063t0004g0151 a0050c0056t0018g0132 a0051c0057t0022g0133 a0052c0059t0005g0129 a0053c0058t0005g0128 a0054c0060t0013g0130 a0055c0061t0005g0131 a0056c0055t0004g0136 a0057c0054t0057g0135 a0063c0030t0002g0092 a0070c0049t0009g0126	192	450	0.4267	0	c.104 others(4): Show c.1048C>T	p.Gln others(4): Show p.Gln350*	LILRA6	ENSG00000244482.11	transcript	ENST00000396365.7	protein_coding	6/8	1087/3848	1048/1446	350/481			chr19	TogoVar
LRSAM1_chr9_127446510_127508499	127452034	GGGTGCAC others(396): Show GGGTGCACCCGCGGGTCCCAACGTGGGGGATCCCTCCATCCGCAAAGCCA GGTCAGCCACTGCCCACCCCACCCCAGGAAATATGGGTGTGGCCCTCCCC CCGCATCTAGGCTGGACGTCGGAGAGGGAGGGACAGGCATGTGGGGCAGC CTGGAAAGAACTGATCTTCGGGGAGGGGTGGGAGAGCGATGGTGGTTGGG AGGAAGTGGGGAGGGCTGCACATCAGGAAGGGGGTGCAAGAGGGTTAGTG ATTGGGGAGCAGAAGGGTAAGTGCTGGTCATCAGGGACGGATGGGGGAGG GCTGTTTTCAAACCATTCCCCATCCTTGCAGGCAGGTGGGGTGACAAGAG GGCCTGAACTGGCTCTGCAGGCCTGGCTGCCTCCCCAGACAGCCCCGCCC CCGT	G G	splice_donor_variant others(3): Show splice_donor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	NA18974.hp2 NA18974.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0009 a0004c0006t0004g0009	1	340	0.0029	-403	c.-80 others(11): Show c.-80_-33+355del		LRSAM1	ENSG00000148356.15	transcript	ENST00000300417.11	protein_coding	2/26				2089	INFO_REALIGN_3_PRIME	chr9	TogoVar
LUZP4_chrX_115284715_115312563	115306534	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0072 a0004c0008t0001g0072	1	280	0.0036	1	c.673 others(4): Show c.673dupT	p.Ser others(5): Show p.Ser225fs	LUZP4	ENSG00000102021.11	transcript	ENST00000371920.4	protein_coding	4/4	719/1746	674/942	225/313		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB16_chrX_35793342_35808772	35803010	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(185): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA18998.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0003 a0004c0006 a0001c0001 a0003c0003 a0004c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0003c0003t0001 a0004c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0004g0004 a0001c0001t0004g0017 a0001c0001t0005g0001 a0001c0001t0005g0006 a0001c0001t0008g0005 a0001c0001t0011g0011 a0001c0001t0013g0019 a0001c0001t0014g0015 a0001c0001t0015g0005 a0003c0003t0001g0001 a0004c0006t0001g0001	188	288	0.6528	0	c.814 others(3): Show c.814C>T	p.Arg others(4): Show p.Arg272*	MAGEB16	ENSG00000189023.11	transcript	ENST00000399988.6	protein_coding	2/2	957/1719	814/975	272/324			chrX	TogoVar
MAGEC2_chrX_142197342_142210290	142203747	C C	CT CT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0006 a0006	a0006c0003 a0006c0003	a0006c0003t0011 a0006c0003t0011	a0006c0003t0011g0020 a0006c0003t0011g0020	1	331	0.0030	1	c.240 others(8): Show c.240_241insA	p.Glu others(4): Show p.Glu81fs	MAGEC2	ENSG00000046774.10	transcript	ENST00000247452.4	protein_coding	3/3	588/1994	240/1122	80/373			chrX	TogoVar
MAGED2_chrX_54802745_54821015	54815296	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0034 a0005c0012t0001g0034	1	319	0.0031	1	c.143 others(5): Show c.1436dupT	p.Met others(5): Show p.Met479fs	MAGED2	ENSG00000102316.17	transcript	ENST00000375068.6	protein_coding	12/13	1524/2051	1437/1821	479/606		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGED2_chrX_54802745_54821015	54815432	G G	GA GA	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0034 a0005c0012t0001g0034	1	319	0.0031	1	c.157 others(5): Show c.1572dupA	p.Pro others(5): Show p.Pro525fs	MAGED2	ENSG00000102316.17	transcript	ENST00000375068.6	protein_coding	12/13	1660/2051	1573/1821	525/606		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGED2_chrX_54802745_54821015	54815440	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0034 a0005c0012t0001g0034	1	319	0.0031	-1	c.158 others(5): Show c.1581delC	p.Ala others(5): Show p.Ala529fs	MAGED2	ENSG00000102316.17	transcript	ENST00000375068.6	protein_coding	12/13	1668/2051	1581/1821	527/606		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGED2_chrX_54802745_54821015	54815590	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0034 a0005c0012t0001g0034	1	319	0.0031	-1	c.173 others(5): Show c.1731delC	p.Thr others(5): Show p.Thr578fs	MAGED2	ENSG00000102316.17	transcript	ENST00000375068.6	protein_coding	12/13	1818/2051	1731/1821	577/606		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGED2_chrX_54802745_54821015	54815646	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0034 a0005c0012t0001g0034	1	319	0.0031	1	c.178 others(5): Show c.1787dupG	p.Ser others(5): Show p.Ser597fs	MAGED2	ENSG00000102316.17	transcript	ENST00000375068.6	protein_coding	12/13	1875/2051	1788/1821	596/606		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEE2_chrX_75777987_75790254	75784694	C C	A A	stop_gained stop_gained	HIGH	HG00280.hp1 HG00609.hp1 HG00621.hp1 others(120): Show HG00280.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01168.hp1 HG01169.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02273.hp2 HG02280.hp2 HG02683.hp2 HG02735.hp1 HG03239.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03927.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA20300.hp1 NA20905.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0002c0003 a0002c0010 others(3): Show a0002c0002 a0002c0003 a0002c0010 a0002c0011 a0003c0006 a0007c0005	a0002c0002t0001 a0002c0003t0001 a0002c0010t0001 others(3): Show a0002c0002t0001 a0002c0003t0001 a0002c0010t0001 a0002c0011t0001 a0003c0006t0001 a0007c0005t0002	a0002c0002t0001g0000 a0002c0003t0001g0000 a0002c0010t0001g0000 others(3): Show a0002c0002t0001g0000 a0002c0003t0001g0000 a0002c0010t0001g0000 a0002c0011t0001g0000 a0003c0006t0001g0000 a0007c0005t0002g0000	123	277	0.4440	0	c.358 others(3): Show c.358G>T	p.Glu others(4): Show p.Glu120*	MAGEE2	ENSG00000186675.7	transcript	ENST00000373359.4	protein_coding	1/1	561/2268	358/1572	120/523			chrX	TogoVar
MAP10_chr1_232800416_232814929	232806206	A A	T T	stop_gained stop_gained	HIGH	NA18974.hp1 NA18974.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0015 a0014c0021t0015	a0014c0021t0015g0000 a0014c0021t0015g0000	1	446	0.0022	0	c.757 others(3): Show c.757A>T	p.Lys others(4): Show p.Lys253*	MAP10	ENSG00000212916.6	transcript	ENST00000418460.4	protein_coding	1/1	791/4514	757/2718	253/905			chr1	TogoVar
MAP7D2_chrX_20001713_20121907	20012480	TG TG	T T	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0104 a0007c0007t0001g0104	1	210	0.0048	-1	c.194 others(5): Show c.1940delC	p.Pro others(5): Show p.Pro647fs	MAP7D2	ENSG00000184368.16	transcript	ENST00000379643.10	protein_coding	15/17	1968/4062	1940/2322	647/773			chrX	TogoVar
MDP1_chr14_24208943_24221066	24214060	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00280.hp1 HG00423.hp1 others(92): Show HG00140.hp1 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01346.hp2 HG01361.hp1 HG01884.hp1 HG01891.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03579.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18989.hp1 NA18994.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19006.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19072.hp1 NA19077.hp1 NA19082.hp1 NA19086.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0004 a0004c0005 a0002c0002 a0002c0004 a0004c0005	a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0004c0005t0004	a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0009 others(11): Show a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0024 a0002c0002t0001g0028 a0002c0002t0002g0011 a0002c0004t0001g0030 a0004c0005t0004g0023	95	404	0.2352	-1	c.494 others(4): Show c.494delT	p.Leu others(5): Show p.Leu165fs	MDP1	ENSG00000213920.9	transcript	ENST00000288087.12	protein_coding	6/6	605/723	494/531	165/176			chr14	TogoVar
MED12_chrX_71113596_71147450	71134358	T T	TG TG	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0001 a0006c0019t0001	a0006c0019t0001g0087 a0006c0019t0001g0087	1	273	0.0037	1	c.462 others(5): Show c.4625dupG	p.Met others(6): Show p.Met1543fs	MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	34/45	4785/6925	4626/6534	1542/2177		INFO_REALIGN_3_PRIME	chrX	TogoVar
MED12_chrX_71113596_71147450	71142188	GC GC	G G	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0001 a0006c0019t0001	a0006c0019t0001g0087 a0006c0019t0001g0087	1	273	0.0037	-1	c.650 others(5): Show c.6507delC	p.Ser others(6): Show p.Ser2170fs	MED12	ENSG00000184634.17	transcript	ENST00000374080.8	protein_coding	45/45	6666/6925	6507/6534	2169/2177		INFO_REALIGN_3_PRIME	chrX	TogoVar
MICA_chr6_31398595_31420315	31412384	G G	GCTGCTGC others(4): Show GCTGCTGCTGCT	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00642.hp1 HG00741.hp1 others(83): Show HG00140.hp2 HG00642.hp1 HG00741.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02630.hp1 HG02717.hp1 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03486.hp2 HG03516.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18959.hp1 NA18964.hp2 NA18966.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp2 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19058.hp1 NA19065.hp1 NA19072.hp2 NA19081.hp2 NA19087.hp1 NA19090.hp1 NA20300.hp1	a0000 a0000	a0000c0001 a0000c0011 a0000c0013 others(3): Show a0000c0001 a0000c0011 a0000c0013 a0000c0018 a0000c0025 a0000c0026	a0000c0001t0002 a0000c0001t0003 a0000c0011t0003 others(4): Show a0000c0001t0002 a0000c0001t0003 a0000c0011t0003 a0000c0013t0003 a0000c0018t0003 a0000c0025t0003 a0000c0026t0003	a0000c0001t0002g0029 a0000c0001t0003g0006 a0000c0001t0003g0009 others(21): Show a0000c0001t0002g0029 a0000c0001t0003g0006 a0000c0001t0003g0009 a0000c0001t0003g0010 a0000c0001t0003g0016 a0000c0001t0003g0038 a0000c0001t0003g0039 a0000c0001t0003g0041 a0000c0001t0003g0042 a0000c0001t0003g0061 a0000c0001t0003g0070 a0000c0001t0003g0111 a0000c0001t0003g0117 a0000c0001t0003g0118 a0000c0001t0003g0119 a0000c0001t0003g0120 a0000c0001t0003g0121 a0000c0001t0003g0122 a0000c0011t0003g0013 a0000c0013t0003g0024 a0000c0013t0003g0112 a0000c0018t0003g0016 a0000c0025t0003g0006 a0000c0026t0003g0016	86	439	0.1959	11	c.952 others(18): Show c.952_953insCTGCTGCTGCT	p.Gly others(5): Show p.Gly318fs	MICA	ENSG00000204520.14	transcript	ENST00000449934.7	protein_coding	5/6	991/1370	953/999	318/332			chr6	TogoVar
MMGT1_chrX_135955588_135978988	135967392	A A	AT AT	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0114 a0002c0002t0028g0114	1	265	0.0038	1	c.233 others(4): Show c.233dupA	p.Asn others(4): Show p.Asn78fs	MMGT1	ENSG00000169446.6	transcript	ENST00000305963.3	protein_coding	3/4	546/5145	233/396	78/131			chrX	TogoVar
MMGT1_chrX_135955588_135978988	135967424	T T	TA TA	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0114 a0002c0002t0028g0114	1	265	0.0038	1	c.201 others(4): Show c.201dupT	p.Lys others(4): Show p.Lys68fs	MMGT1	ENSG00000169446.6	transcript	ENST00000305963.3	protein_coding	3/4	514/5145	201/396	67/131			chrX	TogoVar
MMGT1_chrX_135955588_135978988	135973643	G G	GC GC	frameshift_variant frameshift_variant	HIGH	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0028 a0002c0002t0028	a0002c0002t0028g0114 a0002c0002t0028g0114	1	265	0.0038	1	c.32d others(3): Show c.32dupG	p.Ile others(4): Show p.Ile12fs	MMGT1	ENSG00000169446.6	transcript	ENST00000305963.3	protein_coding	1/4	345/5145	32/396	11/131			chrX	TogoVar
MROH2A_chr2_233773330_233838418	233828629	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00597.hp2 HG00673.hp1 others(15): Show HG00438.hp1 HG00597.hp2 HG00673.hp1 HG02129.hp2 HG02132.hp1 HG02523.hp1 NA18942.hp1 NA18949.hp2 NA18952.hp2 NA18957.hp2 NA18964.hp2 NA18974.hp2 NA18983.hp1 NA19012.hp1 NA19064.hp1 NA19075.hp2 NA19086.hp2 NA19240.hp2	a0008 a0022 a0028 others(5): Show a0008 a0022 a0028 a0035 a0067 a0079 a0081 a0086	a0008c0005 a0008c0122 a0022c0072 others(7): Show a0008c0005 a0008c0122 a0022c0072 a0022c0075 a0028c0048 a0035c0099 a0067c0167 a0079c0113 a0081c0111 a0086c0110	a0008c0005t0001 a0008c0122t0001 a0022c0072t0001 others(7): Show a0008c0005t0001 a0008c0122t0001 a0022c0072t0001 a0022c0075t0001 a0028c0048t0001 a0035c0099t0001 a0067c0167t0001 a0079c0113t0001 a0081c0111t0001 a0086c0110t0001	a0008c0005t0001g0134 a0008c0005t0001g0191 a0008c0005t0001g0224 others(15): Show a0008c0005t0001g0134 a0008c0005t0001g0191 a0008c0005t0001g0224 a0008c0005t0001g0225 a0008c0005t0001g0232 a0008c0005t0001g0247 a0008c0005t0001g0324 a0008c0005t0001g0347 a0008c0122t0001g0260 a0022c0072t0001g0046 a0022c0075t0001g0138 a0028c0048t0001g0052 a0028c0048t0001g0083 a0035c0099t0001g0348 a0067c0167t0001g0177 a0079c0113t0001g0279 a0081c0111t0001g0286 a0086c0110t0001g0139	18	378	0.0476	0	c.411 others(6): Show c.4114-1G>C		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	35/41						chr2	TogoVar
MRPS34_chr16_1766895_1778134	1772796	C C	CACCT CACCT	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02132.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp1 NA18986.hp2 NA18988.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0001c0003 a0003c0004 others(2): Show a0001c0001 a0001c0003 a0003c0004 a0005c0005 a0006c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0001 a0003c0004t0001 a0005c0005t0001 a0006c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0004g0012 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0004g0012 a0001c0001t0005g0013 a0001c0001t0006g0014 a0001c0003t0001g0004 a0003c0004t0001g0006 a0005c0005t0001g0007 a0006c0007t0001g0011	169	436	0.3876	4	c.320 others(13): Show c.320_321+2dupAGGT		MRPS34	ENSG00000074071.15	transcript	ENST00000397375.7	protein_coding	1/2						chr16	TogoVar
MS4A14_chr11_60391459_60422756	60397879	ATT ATT	A A	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(249): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19240.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0009 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0008t0001 a0001c0009t0001 a0001c0012t0001 a0001c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(87): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0003t0001g0004 a0001c0003t0001g0020 a0001c0003t0001g0028 a0001c0003t0001g0038 a0001c0003t0001g0095 a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0102 a0001c0003t0001g0105 a0001c0005t0001g0010 a0001c0005t0001g0019 a0001c0005t0001g0034 a0001c0005t0001g0076 a0001c0008t0001g0005 a0001c0009t0001g0032 a0001c0009t0001g0090 a0001c0012t0001g0003 a0001c0013t0001g0055	252	428	0.5888	-2	c.167 others(9): Show c.167_168delTT	p.Ile others(4): Show p.Ile56fs	MS4A14	ENSG00000166928.11	transcript	ENST00000300187.11	protein_coding	2/5	287/2908	167/2040	56/679			chr11	TogoVar
MT1G_chr16_56661730_56673065	56667382	T T	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(125): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02080.hp2 HG02083.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG02922.hp1 HG03098.hp1 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18943.hp1 NA18944.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19082.hp2 NA19085.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0002g0002 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0005g0007	128	470	0.2723	0	c.29- others(4): Show c.29-2A>T		MT1G	ENSG00000125144.14	transcript	ENST00000379811.4	protein_coding	1/2						chr16	TogoVar
MUC4_chr3_195741771_195816929	195780635	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG01978.hp2 HG02135.hp1 NA18974.hp2 others(2): Show HG01978.hp2 HG02135.hp1 NA18974.hp2 NA19004.hp1 NA19090.hp1	a0021 a0130 a0171 others(1): Show a0021 a0130 a0171 a0186	a0021c0039 a0021c0097 a0130c0125 others(2): Show a0021c0039 a0021c0097 a0130c0125 a0171c0111 a0186c0128	a0021c0039t0001 a0021c0097t0001 a0130c0125t0001 others(2): Show a0021c0039t0001 a0021c0097t0001 a0130c0125t0001 a0171c0111t0001 a0186c0128t0001	a0021c0039t0001g0124 a0021c0097t0001g0118 a0130c0125t0001g0065 others(2): Show a0021c0039t0001g0124 a0021c0097t0001g0118 a0130c0125t0001g0065 a0171c0111t0001g0051 a0186c0128t0001g0170	5	249	0.0201	1	c.109 others(12): Show c.10944_10945insG	p.Leu others(6): Show p.Leu3649fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	11056/16756	10944/16239	3648/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783354	A A	AAGGCTGG others(186): Show AAGGCTGGTGACAGGAAGAGAGGTGGCGTGACCTGTGGACACTGAGGAAG CGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAAGG CTGGTGACAGGAAGAGGGGTGGCCTGTCCTGTGGATGCTGAGGAAGTGTC GGTGACAAGAAGAGGGATGGCGTGACCTGTGGATGCTGAGGAAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00621.hp2 HG00639.hp1 HG00741.hp2 others(13): Show HG00621.hp2 HG00639.hp1 HG00741.hp2 HG01167.hp2 HG01256.hp1 HG01261.hp1 HG02155.hp2 HG02602.hp1 HG03017.hp1 HG03704.hp1 HG03834.hp2 NA18974.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1	a0007 a0015 a0016 others(9): Show a0007 a0015 a0016 a0065 a0084 a0085 a0086 a0088 a0089 a0090 a0091 a0092	a0007c0007 a0015c0023 a0016c0024 others(9): Show a0007c0007 a0015c0023 a0016c0024 a0065c0196 a0084c0187 a0085c0188 a0086c0185 a0088c0180 a0089c0182 a0090c0186 a0091c0181 a0092c0183	a0007c0007t0003 a0015c0023t0003 a0016c0024t0003 others(9): Show a0007c0007t0003 a0015c0023t0003 a0016c0024t0003 a0065c0196t0003 a0084c0187t0003 a0085c0188t0003 a0086c0185t0003 a0088c0180t0003 a0089c0182t0003 a0090c0186t0003 a0091c0181t0003 a0092c0183t0003	a0007c0007t0003g0152 a0007c0007t0003g0154 a0007c0007t0003g0209 others(13): Show a0007c0007t0003g0152 a0007c0007t0003g0154 a0007c0007t0003g0209 a0015c0023t0003g0210 a0015c0023t0003g0212 a0016c0024t0003g0219 a0016c0024t0003g0221 a0065c0196t0003g0208 a0084c0187t0003g0216 a0085c0188t0003g0218 a0086c0185t0003g0217 a0088c0180t0003g0204 a0089c0182t0003g0223 a0090c0186t0003g0220 a0091c0181t0003g0214 a0092c0183t0003g0205	16	249	0.0643	193	c.822 others(202): Show c.8225_8226insCTTCCTCAGCATCCACAGGTCACGCCATCCCTCTTC TTGTCACCGACACTTCCTCAGCATCCACAGGACAGGCCACCCCTCTTCCT GTCACCAGCCTTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCCTGT CACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCCTGTCA CCAGCCT	p.Ser others(6): Show p.Ser2743fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8337/16756	8225/16239	2742/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195783358	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00621.hp2 others(19): Show HG00099.hp2 HG00140.hp1 HG00621.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01256.hp1 HG01261.hp1 HG01515.hp2 HG02155.hp2 HG02602.hp1 HG03017.hp1 HG03704.hp1 HG03834.hp2 NA18974.hp1 NA19064.hp2 NA19066.hp1 NA19070.hp1 NA19074.hp1	a0007 a0015 a0016 others(14): Show a0007 a0015 a0016 a0026 a0065 a0084 a0085 a0086 a0088 a0089 a0090 a0091 a0092 a0175 a0179 a0180 a0181	a0007c0007 a0015c0023 a0016c0024 others(14): Show a0007c0007 a0015c0023 a0016c0024 a0026c0009 a0065c0196 a0084c0187 a0085c0188 a0086c0185 a0088c0180 a0089c0182 a0090c0186 a0091c0181 a0092c0183 a0175c0031 a0179c0032 a0180c0033 a0181c0036	a0007c0007t0003 a0015c0023t0003 a0016c0024t0003 others(14): Show a0007c0007t0003 a0015c0023t0003 a0016c0024t0003 a0026c0009t0002 a0065c0196t0003 a0084c0187t0003 a0085c0188t0003 a0086c0185t0003 a0088c0180t0003 a0089c0182t0003 a0090c0186t0003 a0091c0181t0003 a0092c0183t0003 a0175c0031t0001 a0179c0032t0002 a0180c0033t0002 a0181c0036t0002	a0007c0007t0003g0152 a0007c0007t0003g0154 a0007c0007t0003g0209 others(19): Show a0007c0007t0003g0152 a0007c0007t0003g0154 a0007c0007t0003g0209 a0015c0023t0003g0210 a0015c0023t0003g0212 a0016c0024t0003g0219 a0016c0024t0003g0221 a0026c0009t0002g0112 a0026c0009t0002g0192 a0065c0196t0003g0208 a0084c0187t0003g0216 a0085c0188t0003g0218 a0086c0185t0003g0217 a0088c0180t0003g0204 a0089c0182t0003g0223 a0090c0186t0003g0220 a0091c0181t0003g0214 a0092c0183t0003g0205 a0175c0031t0001g0190 a0179c0032t0002g0193 a0180c0033t0002g0195 a0181c0036t0002g0191	22	249	0.0884	-1	c.822 others(5): Show c.8221delG	p.Glu others(6): Show p.Glu2741fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	8333/16756	8221/16239	2741/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195787679	T T	TGGTGACA others(2296): Show TGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATGCTGAGGAAGCGTCG GTGACAGGAAGAGGCGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGT GACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGA CAGGAAGAGAGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACA GGAAGAGAGGTGGCGTGACCTGTGGATGCTGAGGAAGTGCTGGTGACAGG AAGAGGGGTGACGTGACCTGTAGATACTGAGGAAGTGCTGGTGACAGGAA GAGGGGTGGTGTGACCTGAGGATGATGAGGAAGGGATGGTGACAGGAAGA GAGGTGGCGTGACCTCTGGATACTGAGGAAGTGTTGGTGACAAGAAGAGG GGTGGTGTCACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGG TGGCCTGACCTGTGGATGCTGAGGAAGTGTCTGTGACAGGAAGACGGGTG GTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGC GTGACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGGGGTGGTGT CACCTGTGGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGA CCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGAGGTGGTGTGACC TGAGGATGCTGAGGAAGGGATGGTGACAGGAAGAGGCGTGGTGTCACCTG TTGATACTGAGGAAAGGCTGGTGACAGGAAGAGGGGTGGCCTGACCTGTG GATGCCGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGA TACTGAGGAAAGGCTGGTGACAGGAAGAGGCGTGGCGTGACCGGTGGATA CTGAGGAAGTGTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCC GAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGA GGAAAAGCTGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGG AAGTGTCGGTGACAGGAAGAGTCGTGGTGTCACCTGTGGATACTGAGGAA AGGCTGGTGAGAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGT GTCGGTGACAGGAAGAGGGGTGGCGTGACCGGTGGATGCCGAGGAAGCGT CGGTGACAGGAAGAGGGGTGGTGTCACCTGTGGATACTGAGGAAAAGCTG GTGACAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGT GACAGGAAGAGGCGTGGTGTCACCTGTGGATACTGAGGAAAAGCTGGTGA CAGGAAGAGGGGTGGCGTGACCTGTGGATACTGAGGAAGTGTCGGTGACA GGAAGAGGGGTGGCGTGACCGGTGGATGCTGAGGAAGCGCCGGTGACAGG AAGAGTGCTGGTGTCACCTGTGGATGCTGAGGAAGGGATGGTGACATGAA GAGGGGTGGTGTGACCTGTAGATGCTGAGGAAGGGCTGGTGACAGGAAGA GGGGTGGTGTCACCTGTGGATGCTGAGGAAGTGTCGGTGACAGGAAGAGG GGTGGTGTGACCTGTAGATGCTGAGGAAGTGCTGGTGACAGGAACAGGGG TGGCGTGACCGGTGGATGCTGAGGAAGTGCTGGTGACAGGAAGAGGGGTG GCGTGACCTGTGGATGCTGAGAAGGGCTAGTGACAGGAAGAGGCATGGTG TCACCTGTGGATACTGAGGAAGTGTTGGTGACAGGAAGAGGGGTGGCCTG ACCTGTGGATGCCGAGGAAATGTCGGTGACAGGAAGACGGGTGGTGTCAC CTGTGGAAGCTGAGGAAAGGCCGGTGACAGGAAGAGGGGTGGCGTGACCT GTGGATGCTGAGGAAGTGTTGGTGACAGGAAGAGGGGTGGCCTGACCTGT GGATGCCGAGGAAATGTCGGTGACAGGAAGACGGGTGGTGTCACCTGTGG AAGCTGAGGAAAGGTCGGTGACAGGAAGAGGGGTGGCGTGACCTGTGGAT ACTGAGGAAGTGTCGGTGACAGGCACAGGGGTGGTGTCACCTGTGGATGC TGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTG AGGAAGTCTCGGTGACAAGAAGAGGGGTGGTGTCACCTGTGGATGATGAG GAAGTGTCGGTGACAGGAAGAGAGGTGGTGTCACCTGTGTATGCTGAGGA AGTGTCGGTGACAGGAAGAGGGGTGGCCTGACCTGTGGATGCTGAGGAAG CGTC	frameshift_variant frameshift_variant	HIGH	NA18974.hp2 NA18974.hp2	a0186 a0186	a0186c0128 a0186c0128	a0186c0128t0001 a0186c0128t0001	a0186c0128t0001g0170 a0186c0128t0001g0170	1	249	0.0040	2303	c.390 others(2312): Show c.3900_3901insGACGCTTCCTCAGCATCCACAGGTCAGGCCACCCCT CTTCCTGTCACCGACACTTCCTCAGCATACACAGGTGACACCACCTCTCT TCCTGTCACCGACACTTCCTCATCATCCACAGGTGACACCACCCCTCTTC TTGTCACCGAGACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCAT GTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTGTGCCTGT CACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCA CCGACCTTTCCTCAGCTTCCACAGGTGACACCACCCGTCTTCCTGTCACC GACATTTCCTCGGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAA CACTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCGGCC TTTCCTCAGCTTCCACAGGTGACACCACCCGTCTTCCTGTCACCGACATT TCCTCGGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAACACTTC CTCAGTATCCACAGGTGACACCATGCCTCTTCCTGTCACTAGCCCTTCTC AGCATCCACAGGTCACGCCACCCCTCTTCCTGTCACCAGCACTTCCTCAG CATCCACCGGTCACGCCACCCCTGTTCCTGTCACCAGCACTTCCTCAGCA TCTACAGGTCACACCACCCCTCTTCCTGTCACCGACACTTCCTCAGCATC CACAGGTGACACCACCCCTCTTCCTGTCACCAGCCCTTCCTCAGCATCTA CAGGTCACACCACCCCTCTTCATGTCACCATCCCTTCCTCAGCATCCACA GGTGACACCAGCACTCTTCCTGTCACCGGCGCTTCCTCAGCATCCACCGG TCACGCCACCCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTC ACGCCACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGAC ACCACGCCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGC CACCCCTCTTCCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCA CCCCTCTTCCTGTCACCGACGCTTCCTCGGCATCCACCGGTCACGCCACC CCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCC TCTTCCTCTCACCAGCCTTTCCTCAGTATCCACAGGTGACACCACGACTC TTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCACGCCACCCCTCTT CCTGTCACCAGCTTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCC TGTCACCGACGCTTCCTCGGCATCCACCGGTCACGCCACCCCTCTTCCTG TCACCGACACTTCCTCAGTATCCACCGGTCACGCCACGCCTCTTCCTGTC ACCAGCCTTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCAC CGACGCTTCCTCGGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCA GCCTTTCCTCAGTATCAACAGGTGACACCACGCCTCTTCCTGTCACCATC CCTTCCTCAGCATCCTCAGGTCACACCACCTCTCTTCCTGTCACCGACAC TTCCTCAGCATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCCTTT CCTCAGTATCCACAGGTGACACCACCCCTCTTCTTGTCACCGACGCTTCC TCAGTATCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACACTTCCTC AGCATCCACAGGTGACACCACCCGTCTTCCTGTCACAGACACTTCCTCAG CATCCACAGGTCAGGCCACCCCTCTTCCTGTCACCAGCCTTTCCTCAGTA TCCACAGGTGACACCACCCCTCTTCTTGTCACCAACACTTCCTCAGTATC CAGAGGTCACGCCACCTCTCTTCCTGTCACCATCCCTTCCTCATCATCCT CAGGTCACACCACCCCTCTTCCTGTCACCAGCACTTCCTCAGTATCTACA GGTCACGTCACCCCTCTTCCTGTCACCAGCACTTCCTCAGCATCCACAGG TCACGCCACCTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTC ACGCCACCTCTCTTCCTGTCACCGACACTTCCTCAGTATCCACAGGTCAC GCCACCCCTCTTCCTGTCACCGACGCTTCCTCAGTGTCCACAGGTCACGC CACGCCTCTTCCTGTCACCGACGCTTCCTCAGCATCCACAGGTGACACCA CCCCTCTTCCTGTCACC	p.Ser others(6): Show p.Ser1301fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	4012/16756	3900/16239	1300/5412			chr3	TogoVar
MUC4_chr3_195741771_195816929	195788110	T T	TCGGTGAC others(762): Show TCGGTGACAGGAAGCGGCGTGGTGTCACCAGTGGATGCTGAGGAAAGGCT GGTGACAGGAAGAGGGGGTGGCCTGTCCTGTAGATACTGAGGAAGTGTCG GTGACCGGAAGAGGGGTGGCATGACCTGTGGACACTGAGGAAGCGTCGGT GACAGGAAGAGGGGTGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGA CAGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACA GGAAGAGGGGTGGTGTGACCTGAGGATGCTGAGGAAGGGCTAGTGACAGG AAGAGGCGTGGTGTCACCTGTGGATGCTGAGGAAAGGCTGGTGACAGGAA GAGAGGTGGCGTGACCTGTGGATACTGAGGAAGCGTCGGTGACATGAAGA GGGGTGGTGTCACCTGTGGATGCTGAGTTAGTGTCGGTGACAGGAAGAGG GGTGGTGTCACCTGTGGATACTGAGGAAGCGTCGGTGACAAGAAGAGAGG TGGCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACAGGAAGAGAGGTG GTGTGACCTGAAGATGCTGAGGAAGGGATGGTGACAGGAAGAGAGGTGGT GTCACCTGTGGATGCTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGT CACCTGTGGATGCTGAGGAAGGGCTGGTGACAGGAAGAGGGATGGCCTGA CCTGTGGATGCCGAGGAAACGTCGGTGACAGGAAGATGGGTGGTGTCATC TGTGGAAGCTGAAGAAAGGC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18974.hp2 NA18974.hp2	a0186 a0186	a0186c0128 a0186c0128	a0186c0128t0001 a0186c0128t0001	a0186c0128t0001g0170 a0186c0128t0001g0170	1	249	0.0040	769	c.346 others(778): Show c.3469_3470insGCCTTTCTTCAGCTTCCACAGATGACACCACCCATC TTCCTGTCACCGACGTTTCCTCGGCATCCACAGGTCAGGCCATCCCTCTT CCTGTCACCAGCCCTTCCTCAGCATCCACAGGTGACACCACCCCTCTTCC TGTCACCGACGCTTCCTCAGCATCCACAGGTGACACCACCTCTCTTCCTG TCACCATCCCTTCCTCAGCATCTTCAGGTCACACCACCTCTCTTCCTGTC ACCGACGCTTCCTCAGTGTCCACAGGTCACGCCACCTCTCTTCTTGTCAC CGACGCTTCCTCAGTATCCACAGGTGACACCACCCCTCTTCCTGTCACCG ACACTAACTCAGCATCCACAGGTGACACCACCCCTCTTCATGTCACCGAC GCTTCCTCAGTATCCACAGGTCACGCCACCTCTCTTCCTGTCACCAGCCT TTCCTCAGCATCCACAGGTGACACCACGCCTCTTCCTGTCACTAGCCCTT CCTCAGCATCCTCAGGTCACACCACCCCTCTTCCTGTCACCGACGCTTCC TCAGTACCCACAGGTCACGCCACCTCTCTTCCTGTCACCGACGCTTCCTC AGTGTCCACAGGTCACGCCACCCCTCTTCCTGTCACCGACGCTTCCTCAG TGTCCACAGGTCATGCCACCCCTCTTCCGGTCACCGACACTTCCTCAGTA TCTACAGGACAGGCCACCCCCTCTTCCTGTCACCAGCCTTTCCTCAGCAT CCACTGGTGACACCACGCCGCTTCCTGTCACCG	p.Asp others(6): Show p.Asp1157fs	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	2/25	3581/16756	3469/16239	1157/5412			chr3	TogoVar
MUC7_chr4_70467197_70487997	70474006	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp2 HG00280.hp1 HG00438.hp1 others(69): Show HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00738.hp2 HG01106.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp2 NA18747.hp1 NA18941.hp1 NA18942.hp1 NA18949.hp1 NA18954.hp2 NA18973.hp1 NA18974.hp2 NA18982.hp1 NA18991.hp1 NA18998.hp2 NA19004.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19084.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0012 a0002c0002 a0008c0012	a0002c0002t0004 a0002c0002t0008 a0008c0012t0004 a0002c0002t0004 a0002c0002t0008 a0008c0012t0004	a0002c0002t0004g0005 a0002c0002t0004g0010 a0002c0002t0004g0013 others(14): Show a0002c0002t0004g0005 a0002c0002t0004g0010 a0002c0002t0004g0013 a0002c0002t0004g0014 a0002c0002t0004g0026 a0002c0002t0004g0027 a0002c0002t0004g0059 a0002c0002t0004g0060 a0002c0002t0004g0061 a0002c0002t0004g0062 a0002c0002t0004g0063 a0002c0002t0004g0064 a0002c0002t0004g0065 a0002c0002t0004g0066 a0002c0002t0008g0012 a0002c0002t0008g0050 a0008c0012t0004g0014	72	436	0.1651	0	c.-15 others(5): Show c.-15-1G>A		MUC7	ENSG00000171195.11	transcript	ENST00000304887.6	protein_coding	1/2						chr4	TogoVar

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Search Results (Total: 369 hits)