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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

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	status	chr	external
TMPRSS3_chr21_42366890_42401052	42383199	C C	CTA CTA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp1 HG00408.hp2 HG00621.hp2 others(99): Show HG00408.hp1 HG00408.hp2 HG00621.hp2 HG01070.hp2 HG01123.hp2 HG01175.hp1 HG01255.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG02004.hp2 HG02040.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02486.hp1 HG02602.hp2 HG02818.hp1 HG02818.hp2 HG03098.hp2 HG03195.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18994.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19057.hp2 NA19064.hp1 NA19066.hp1 NA19072.hp1 NA19079.hp1 NA19079.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0007 a0011	a0001c0001 a0002c0003 a0002c0007 others(6): Show a0001c0001 a0002c0003 a0002c0007 a0004c0006 a0006c0010 a0006c0015 a0006c0022 a0007c0011 a0011c0027	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(16): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0017 a0002c0007t0001 a0002c0007t0002 a0002c0007t0006 a0004c0006t0001 a0004c0006t0002 a0004c0006t0004 a0004c0006t0010 a0006c0010t0002 a0006c0010t0013 a0006c0015t0003 a0006c0022t0006 a0007c0011t0001 a0011c0027t0002	a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 others(80): Show a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 a0002c0003t0001g0017 a0002c0003t0001g0022 a0002c0003t0001g0032 a0002c0003t0001g0050 a0002c0003t0001g0051 a0002c0003t0001g0053 a0002c0003t0001g0090 a0002c0003t0001g0091 a0002c0003t0001g0094 a0002c0003t0001g0096 a0002c0003t0001g0109 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0138 a0002c0003t0001g0156 a0002c0003t0001g0157 a0002c0003t0001g0158 a0002c0003t0001g0166 a0002c0003t0001g0175 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0186 a0002c0003t0001g0212 a0002c0003t0001g0215 a0002c0003t0001g0242 a0002c0003t0001g0245 a0002c0003t0001g0250 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0271 a0002c0003t0001g0273 a0002c0003t0001g0283 a0002c0003t0001g0288 a0002c0003t0001g0296 a0002c0003t0001g0299 a0002c0003t0002g0023 a0002c0003t0002g0028 a0002c0003t0002g0079 a0002c0003t0002g0110 a0002c0003t0002g0149 a0002c0003t0002g0152 a0002c0003t0002g0232 a0002c0003t0002g0246 a0002c0003t0002g0253 a0002c0003t0002g0276 a0002c0003t0002g0279 a0002c0003t0003g0142 a0002c0003t0003g0297 a0002c0003t0004g0241 a0002c0003t0004g0278 a0002c0003t0017g0141 a0002c0007t0001g0210 a0002c0007t0001g0236 a0002c0007t0002g0344 a0002c0007t0002g0350 a0002c0007t0006g0261 a0002c0007t0006g0351 a0004c0006t0001g0309 a0004c0006t0001g0316 a0004c0006t0001g0324 a0004c0006t0001g0327 a0004c0006t0001g0342 a0004c0006t0002g0317 a0004c0006t0004g0001 a0004c0006t0004g0285 a0004c0006t0004g0301 a0004c0006t0004g0303 a0004c0006t0010g0047 a0006c0010t0002g0368 a0006c0010t0002g0369 a0006c0010t0013g0377 a0006c0015t0003g0061 a0006c0015t0003g0062 a0006c0022t0006g0072 a0007c0011t0001g0035 a0007c0011t0001g0353 a0011c0027t0002g0376	102	472	0.2161	2	c.617 others(13): Show c.617-3_617-2dupTA		TMPRSS3	ENSG00000160183.17	transcript	ENST00000644384.2	protein_coding	7/12					chr21	TogoVar
TNRC18_chr7_5301811_5428834	5388813	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00544.hp2 HG01109.hp1 others(19): Show HG00544.hp1 HG00544.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp2 HG01433.hp2 HG01517.hp1 HG02071.hp1 HG02486.hp1 HG02523.hp2 HG02622.hp2 HG02738.hp1 HG03098.hp2 HG03209.hp1 HG04184.hp2 NA18940.hp2 NA18943.hp1 NA18947.hp1 NA19002.hp2 NA19005.hp1 NA19030.hp1 NA19030.hp2	a0003 a0034 a0036 others(1): Show a0003 a0034 a0036 a0094	a0003c0017 a0003c0041 a0003c0044 others(18): Show a0003c0017 a0003c0041 a0003c0044 a0003c0045 a0003c0046 a0003c0047 a0003c0048 a0003c0049 a0003c0050 a0003c0051 a0003c0052 a0003c0053 a0003c0054 a0003c0055 a0003c0056 a0003c0212 a0003c0213 a0003c0238 a0034c0225 a0036c0043 a0094c0210	a0003c0017t0002 a0003c0017t0007 a0003c0041t0007 others(19): Show a0003c0017t0002 a0003c0017t0007 a0003c0041t0007 a0003c0044t0008 a0003c0045t0020 a0003c0046t0001 a0003c0047t0002 a0003c0048t0004 a0003c0049t0002 a0003c0050t0001 a0003c0051t0001 a0003c0052t0003 a0003c0053t0003 a0003c0054t0005 a0003c0055t0003 a0003c0056t0006 a0003c0212t0002 a0003c0213t0002 a0003c0238t0012 a0034c0225t0005 a0036c0043t0001 a0094c0210t0028	a0003c0017t0002g0020 a0003c0017t0007g0129 a0003c0041t0007g0164 others(19): Show a0003c0017t0002g0020 a0003c0017t0007g0129 a0003c0041t0007g0164 a0003c0044t0008g0050 a0003c0045t0020g0041 a0003c0046t0001g0204 a0003c0047t0002g0128 a0003c0048t0004g0135 a0003c0049t0002g0123 a0003c0050t0001g0243 a0003c0051t0001g0298 a0003c0052t0003g0178 a0003c0053t0003g0260 a0003c0054t0005g0250 a0003c0055t0003g0101 a0003c0056t0006g0013 a0003c0212t0002g0153 a0003c0213t0002g0167 a0003c0238t0012g0275 a0034c0225t0005g0081 a0036c0043t0001g0029 a0094c0210t0028g0245	22	306	0.0719	1	c.101 others(5): Show c.1010dupC	p.Pro others(5): Show p.Pro338fs	TNRC18	ENSG00000182095.15	transcript	ENST00000430969.6	protein_coding	5/30	1647/10839	1010/8907	337/2968		chr7	TogoVar
TPSD1_chr16_1251069_1264008	1256558	AG AG	A A	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00423.hp2 HG00639.hp2 others(69): Show HG00140.hp1 HG00423.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp1 HG01346.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02559.hp2 HG02602.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18962.hp1 NA18980.hp1 NA18982.hp2 NA18998.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19066.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0002c0012 a0002c0018 others(3): Show a0002c0002 a0002c0012 a0002c0018 a0002c0019 a0004c0004 a0004c0007	a0002c0002t0002 a0002c0002t0008 a0002c0002t0016 others(23): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0016 a0002c0002t0018 a0002c0002t0041 a0002c0002t0081 a0002c0002t0082 a0002c0002t0083 a0002c0002t0084 a0002c0002t0085 a0002c0002t0086 a0002c0002t0087 a0002c0002t0093 a0002c0012t0002 a0002c0012t0027 a0002c0018t0089 a0002c0019t0079 a0004c0004t0002 a0004c0004t0006 a0004c0004t0078 a0004c0004t0080 a0004c0004t0091 a0004c0007t0088 a0004c0007t0090 a0004c0007t0092 a0004c0007t0094	a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0002g0015 others(27): Show a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0002g0015 a0002c0002t0008g0005 a0002c0002t0008g0014 a0002c0002t0016g0005 a0002c0002t0018g0002 a0002c0002t0041g0002 a0002c0002t0081g0013 a0002c0002t0082g0002 a0002c0002t0083g0005 a0002c0002t0084g0002 a0002c0002t0085g0002 a0002c0002t0086g0002 a0002c0002t0087g0002 a0002c0002t0093g0002 a0002c0012t0002g0002 a0002c0012t0027g0002 a0002c0018t0089g0002 a0002c0019t0079g0002 a0004c0004t0002g0002 a0004c0004t0006g0002 a0004c0004t0006g0011 a0004c0004t0078g0011 a0004c0004t0080g0002 a0004c0004t0091g0002 a0004c0007t0088g0008 a0004c0007t0090g0008 a0004c0007t0092g0008 a0004c0007t0094g0008	72	270	0.2667	-1	c.127 others(4): Show c.127delG	p.Glu others(4): Show p.Glu43fs	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	2/5	339/1573	127/729	43/242	INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIM51G_chr11_48970498_48988885	48978871	C C	G G	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(271): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0006 a0001c0011 others(7): Show a0001c0001 a0001c0006 a0001c0011 a0003c0003 a0005c0007 a0006c0008 a0007c0009 a0008c0017 a0009c0013 a0010c0012	a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 a0001c0011t0001 a0003c0003t0001 a0005c0007t0001 a0006c0008t0001 a0007c0009t0001 a0008c0017t0001 a0009c0013t0001 a0010c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(74): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0004g0054 a0001c0006t0003g0032 a0001c0006t0003g0044 a0001c0006t0003g0098 a0001c0006t0003g0099 a0001c0011t0001g0126 a0003c0003t0001g0001 a0003c0003t0001g0006 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0001g0106 a0003c0003t0001g0107 a0005c0007t0001g0112 a0005c0007t0001g0113 a0005c0007t0001g0114 a0006c0008t0001g0122 a0006c0008t0001g0125 a0007c0009t0001g0121 a0008c0017t0001g0123 a0009c0013t0001g0133 a0010c0012t0001g0136	274	424	0.6462	0	c.738 others(5): Show c.738+1G>C		TRIM51G	ENSG00000220948.6	transcript	ENST00000534741.3	protein_coding	4/6					chr11	TogoVar
TRIM73_chr7_75390629_75410605	75403732	C C	T T	stop_gained stop_gained	HIGH	HG00140.hp1 HG01123.hp1 HG01168.hp2 others(43): Show HG00140.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01884.hp1 HG01891.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20129.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0008 a0002c0002 a0008c0008	a0002c0002t0001 a0008c0008t0001 a0002c0002t0001 a0008c0008t0001	a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0019 others(14): Show a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0019 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0105 a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0125 a0002c0002t0001g0126 a0008c0008t0001g0019	46	322	0.1429	0	c.487 others(3): Show c.487C>T	p.Arg others(4): Show p.Arg163*	TRIM73	ENSG00000178809.12	transcript	ENST00000323819.8	protein_coding	3/5	687/1350	487/753	163/250		chr7	TogoVar
TSPAN10_chr17_81632196_81653749	81647906	T T	TTAAC TTAAC	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(30): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG02486.hp1 HG02602.hp2 HG02615.hp1 HG03225.hp1 HG03453.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp2 NA19240.hp1	a0004 a0007 a0004 a0007	a0004c0005 a0004c0011 a0004c0012 others(1): Show a0004c0005 a0004c0011 a0004c0012 a0007c0007	a0004c0005t0003 a0004c0011t0003 a0004c0012t0003 others(1): Show a0004c0005t0003 a0004c0011t0003 a0004c0012t0003 a0007c0007t0003	a0004c0005t0003g0002 a0004c0005t0003g0140 a0004c0005t0003g0141 others(6): Show a0004c0005t0003g0002 a0004c0005t0003g0140 a0004c0005t0003g0141 a0004c0005t0003g0142 a0004c0005t0003g0144 a0004c0011t0003g0002 a0004c0012t0003g0143 a0007c0007t0003g0002 a0007c0007t0003g0145	33	410	0.0805	4	c.682 others(11): Show c.682_685dupAACT	p.Cys others(5): Show p.Cys229fs	TSPAN10	ENSG00000182612.11	transcript	ENST00000611590.2	protein_coding	4/4	1003/1840	686/1068	229/355	INFO_REALIGN_3_PRIME	chr17	TogoVar
TTC24_chr1_156574723_156592719	156583439	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG00741.hp2 HG01123.hp1 HG01168.hp1 others(23): Show HG00741.hp2 HG01123.hp1 HG01168.hp1 HG01515.hp1 HG01517.hp2 HG02055.hp2 HG02109.hp1 HG02135.hp1 HG02280.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02976.hp2 HG03195.hp1 HG03490.hp1 HG03492.hp2 HG03942.hp1 HG04228.hp1 HG06807.hp1 NA18945.hp2 NA18951.hp2 NA18963.hp2 NA18974.hp1	a0003 a0009 a0010 a0003 a0009 a0010	a0003c0004 a0009c0010 a0010c0011 a0003c0004 a0009c0010 a0010c0011	a0003c0004t0001 a0003c0004t0006 a0003c0004t0012 others(2): Show a0003c0004t0001 a0003c0004t0006 a0003c0004t0012 a0009c0010t0001 a0010c0011t0001	a0003c0004t0001g0006 a0003c0004t0001g0017 a0003c0004t0001g0024 others(9): Show a0003c0004t0001g0006 a0003c0004t0001g0017 a0003c0004t0001g0024 a0003c0004t0001g0031 a0003c0004t0001g0034 a0003c0004t0001g0070 a0003c0004t0006g0006 a0003c0004t0006g0061 a0003c0004t0012g0033 a0009c0010t0001g0012 a0010c0011t0001g0006 a0010c0011t0001g0045	26	442	0.0588	-1	c.114 others(5): Show c.1144delC	p.Gln others(5): Show p.Gln382fs	TTC24	ENSG00000187862.13	transcript	ENST00000368236.8	protein_coding	5/11	1184/2958	1144/1749	382/582	INFO_REALIGN_3_PRIME	chr1	TogoVar
TUBA3E_chr2_130186745_130203439	130197356	ACACACCT others(2467): Show ACACACCTGTAGTACCAGCTACTCGGAAGGCTGAGGCGGGAGGACTGCTG GAAGCCAGGGGTTCAAGGCTGCAGGGAGCCGTGATCTTGCAACTGTGTTC CAGCCTGGGCAACAGAGCATTTATTGAGTGCTGTCTCAAAAAAAAAAAAA AAAGAAAAGAAAAGAAAAAAGAAAAAGAAAGGAAAAAAAGGATAACTGAC AAATCACAGCTATTCAGACTTGGGACTTGGGAATCTGTTATGTTAATGGG CTGCTTTTTTTGTTTGGTTTTTTGAGGCAGGGTCTCTGTGGCCCAGGCTG GAGTGCACTGGCGCCATCACGACTCACTGCAGCCTCAAAGTTCCAGGCTC GGCTGATCCTCCCACCTCAGCCTCCCGAGTAGCTGGAACCACAGACTCGC ATCACCATGCCCGGGTAATTTTAGTATTTTTTTGTAGAGACTGGGTTTCG CCATGTTGGTCGGGCTGATCTTGAACTCCAGACATCAGGGGATCCGCCCG CCTCCACCTCCCCAAGGGCTGGGATTCCAGGCGTGAGCCGCCGCGCCTGG CCTAACGGTTGCCTTTAGGTGAACAAGGCAATGTTGCAGCAGCGTCTGAG CCTTAATTCCTCATCTGACCAATGTCCACAGCCCCAACCCCCGTCACCGA AGGCTCCTGCAGCTCCTCAGCTGTTTCCAGTAGCACAAAGACGTGTGAAG CGGGAGCAGCGCCCTCCTGTCTTCAGGAGGCGACGCCACTATTTGCTCTC TGGGGGACGGGATACCGTCAATGGTCCCCGTCCACTAAAGGCCGGCAGCT TCATCTAAAACAAAAGCCGCCGTCCCTGCCCTGGGACCTGCAGATCCAGG AAACGATCCCGTGTCCTCCTGTCCCGCACTAGACCCTGCGTCCTTCTCTG GCCTCCTCTCAGCGCCCAGGCCCGCAACAACGTCCCTCTGTCCACCCGAG GCCAACTTCGTCTGCCTGGGCATCTGCGGGGCGGGAGTGACCCGGGTCTT ACCATGGCGAACTCCGCTGCTTCAGCCCAACGCTACTTCCAGACCTCAAC CGGCTGCCACAGCTGCTGAGCGCCCAACTGCAATGACCTGCCCACGCGCG CCGCACAGGATTGGCCTGCCGGTGCCAGGCCGCCATTGGCTCGGAGTTCC TGGGAGGCAGGCCGAGGGCCGGATCCCAGTTCTGATTGGCCGTTGCTCAA CACGTGTAGTGGGGATGCTCTCTGATTGGATGCAGGATTGGCGGGAAGGC AGCGGGGTCATCAAAGGCTGCGCGGTTGCTGAGGCATTTCCGGGGTGTCT TCCGACCAGGATTGGAACAGCTACTGCGCTGCCTCTGTGGGTCGCGGAAC ATTGCCTTGCTCCCAGTGTGCCACTGCCCCTCCCTGATTGCCCCAGGCCT GCTCCTCTCCCTGCCTAATTCAGATCTTTGCAAACAAGGCCACCTCTGAG AGGCCTTGCCGCCATCTACCCAAGTCACAGCAGCACCGCAATTATCCCCC TCTTCCCTGTTCCCACCCAGCACCCGGGAAGTGGCAGGATTCAATCACTT TTCTGACCCAAAGGGAGAAAACGGGCCGGGCGCGATGGCTAACGCCTGCA ATCCCAGCACTTCGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAAGAG TTCCCGAGACCAGCCTGGCCAATATGGTGAAAACCCATCTCTACTAAAAA CACAAAAATTACCCTGGCTGGTGGTAGGCACCTGTAATCCCAGCTACACG GGAGGCTGAGGTAGGAGAATCGCTTGAAACTGGGAGGCAGTTGTTGCAGT GAGCCGAGATTGGGCCACAGCACACTCCAGCCTGGGCAACAGAGCCAGAC TCTGTCTCAAAAAAAAAAGGAAGAAAGGAGGCAAAATTAACGTAAGTGGA GAGGTTGGGCCAGGCACACCAGCTCATGCCTGTAATTCCAGTGCTTTGGG AGGCCACGGCAGGAGGATTGCTTCAGGTCAGGAGTTCGAGACCAGCCTGG GCAACGTGGTGAGTCCCACCTTGCCCGTTTCTACAAAAAATAAAATTAGC AAGGCATGGTGGCATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGC AGGAGAATCCCTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCA CGCCACTGCACTCAAGCCTGGGTGACAGAGCAAAACTCCATCTTGAAAAA AAAAATAGTTTATTTGGGCCAAGTTTGAGAAGTGCAACCCTGGAGATGCA AGTTGTCTTAAAATATTAGCAGCAGTTATAAGTGGGTTTTTAAAGGAAAA GAAGAGGCAGTTCCTAAGTTGTTTACCAAGAATTTGAAATTAGAGAAGTC TTGCTGTGTTGTCCAGGCTAGTCTTGAACTCCTGACCTGAAGGGATCCTC CTACCTCGGCTGGCCTAGCCTGAGGAATTTATATTAAAATAACGTAAGCT ATTTATTGGGCCAGGCGTGGTGGCT	A A	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01346.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18998.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 others(14): Show a0001c0002 a0001c0005 a0001c0011 a0001c0013 a0001c0015 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042	a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 others(14): Show a0001c0002t0002 a0001c0005t0002 a0001c0011t0002 a0001c0013t0002 a0001c0015t0002 a0001c0031t0002 a0001c0032t0002 a0001c0033t0002 a0001c0034t0002 a0001c0035t0002 a0001c0036t0002 a0001c0037t0002 a0001c0038t0002 a0001c0039t0002 a0001c0040t0002 a0001c0041t0002 a0001c0042t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 a0001c0002t0002g0015 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0026 a0001c0002t0002g0028 a0001c0002t0002g0033 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0043 a0001c0002t0002g0046 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0005t0002g0005 a0001c0005t0002g0018 a0001c0005t0002g0034 a0001c0011t0002g0014 a0001c0013t0002g0027 a0001c0013t0002g0041 a0001c0015t0002g0029 a0001c0031t0002g0035 a0001c0032t0002g0036 a0001c0033t0002g0039 a0001c0034t0002g0040 a0001c0035t0002g0042 a0001c0036t0002g0044 a0001c0037t0002g0045 a0001c0038t0002g0047 a0001c0039t0002g0048 a0001c0040t0002g0049 a0001c0041t0002g0050 a0001c0042t0002g0051	177	428	0.4136	-2474	c.-14 others(11): Show c.-1470_4-986del		TUBA3E	ENSG00000152086.9	transcript	ENST00000312988.9	protein_coding	1/5					chr2	TogoVar
TYW1B_chr7_72569513_72833200	72728896	C C	T T	stop_gained stop_gained	HIGH	HG00280.hp1 HG00323.hp1 HG00558.hp2 others(118): Show HG00280.hp1 HG00323.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18985.hp1 NA18988.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp1 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19074.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0007 a0011 a0012	a0001c0001 a0001c0007 a0001c0018 others(11): Show a0001c0001 a0001c0007 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0004c0005 a0004c0010 a0004c0024 a0004c0025 a0005c0022 a0007c0012 a0011c0015 a0012c0013	a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 others(11): Show a0001c0001t0001 a0001c0007t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0004c0005t0001 a0004c0010t0001 a0004c0024t0001 a0004c0025t0001 a0005c0022t0001 a0007c0012t0001 a0011c0015t0001 a0012c0013t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(118): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0018t0001g0044 a0001c0019t0001g0088 a0001c0020t0001g0058 a0001c0021t0001g0067 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0010t0001g0168 a0004c0010t0001g0169 a0004c0010t0001g0170 a0004c0024t0001g0175 a0004c0025t0001g0161 a0005c0022t0001g0182 a0007c0012t0001g0166 a0007c0012t0001g0167 a0011c0015t0001g0008 a0012c0013t0004g0001	121	286	0.4231	0	c.111 others(4): Show c.1118G>A	p.Trp others(4): Show p.Trp373*	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	9/14	1243/3117	1118/2007	373/668		chr7	TogoVar
TYW1B_chr7_72569513_72833200	72744551	C C	CA CA	frameshift_variant frameshift_variant	HIGH	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(209): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18982.hp2 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(5): Show a0001 a0004 a0005 a0006 a0007 a0008 a0011 a0012	a0001c0001 a0001c0002 a0001c0006 others(18): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0004c0005 a0004c0010 a0004c0024 a0004c0025 a0005c0008 a0005c0022 a0005c0023 a0006c0009 a0007c0012 a0008c0011 a0011c0015 a0012c0013	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 others(19): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0001 a0004c0005t0001 a0004c0010t0001 a0004c0024t0001 a0004c0025t0001 a0005c0008t0001 a0005c0008t0006 a0005c0022t0001 a0005c0023t0007 a0006c0009t0001 a0007c0012t0001 a0008c0011t0001 a0011c0015t0001 a0012c0013t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(209): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0137 a0001c0001t0001g0158 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0283 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0282 a0001c0006t0001g0141 a0001c0006t0001g0185 a0001c0006t0001g0191 a0001c0006t0001g0192 a0001c0006t0001g0193 a0001c0006t0001g0196 a0001c0006t0001g0197 a0001c0006t0001g0198 a0001c0006t0001g0199 a0001c0006t0001g0203 a0001c0006t0001g0204 a0001c0007t0001g0186 a0001c0007t0001g0188 a0001c0007t0001g0189 a0001c0007t0001g0268 a0001c0007t0001g0269 a0001c0007t0001g0270 a0001c0007t0001g0271 a0001c0007t0001g0272 a0001c0007t0001g0273 a0001c0007t0001g0274 a0001c0014t0001g0184 a0001c0018t0001g0044 a0001c0019t0001g0088 a0001c0020t0001g0058 a0001c0021t0001g0067 a0004c0005t0001g0159 a0004c0005t0001g0160 a0004c0005t0001g0162 a0004c0005t0001g0163 a0004c0005t0001g0164 a0004c0005t0001g0165 a0004c0005t0001g0171 a0004c0005t0001g0172 a0004c0005t0001g0173 a0004c0005t0001g0174 a0004c0005t0001g0176 a0004c0005t0001g0177 a0004c0010t0001g0168 a0004c0010t0001g0169 a0004c0010t0001g0170 a0004c0024t0001g0175 a0004c0025t0001g0161 a0005c0008t0001g0009 a0005c0008t0001g0011 a0005c0008t0001g0180 a0005c0008t0001g0181 a0005c0008t0001g0183 a0005c0008t0006g0010 a0005c0022t0001g0182 a0005c0023t0007g0178 a0006c0009t0001g0200 a0006c0009t0001g0201 a0006c0009t0001g0202 a0006c0009t0001g0281 a0007c0012t0001g0166 a0007c0012t0001g0167 a0008c0011t0001g0275 a0008c0011t0001g0276 a0011c0015t0001g0008 a0012c0013t0004g0001	212	286	0.7413	1	c.101 others(5): Show c.1014dupT	p.Glu others(5): Show p.Glu339fs	TYW1B	ENSG00000277149.5	transcript	ENST00000620995.5	protein_coding	8/14	1139/3117	1014/2007	338/668		chr7	TogoVar
UGT2A1_chr4_69583417_69658247	69647069	A A	T T	stop_gained stop_gained	HIGH	HG00735.hp1 HG01123.hp1 HG01175.hp1 HG00735.hp1 HG01123.hp1 HG01175.hp1	a0006 a0006	a0006c0006 a0006c0008 a0006c0006 a0006c0008	a0006c0006t0002 a0006c0008t0001 a0006c0006t0002 a0006c0008t0001	a0006c0006t0002g0076 a0006c0006t0002g0077 a0006c0008t0001g0060 a0006c0006t0002g0076 a0006c0006t0002g0077 a0006c0008t0001g0060	3	376	0.0080	0	c.576 others(3): Show c.576T>A	p.Tyr others(4): Show p.Tyr192*	UGT2A1	ENSG00000173610.13	transcript	ENST00000286604.9	protein_coding	2/7	690/2653	576/1584	192/527		chr4	TogoVar
UNC93A_chr6_167286315_167321014	167296214	G G	A A	stop_gained stop_gained	HIGH	HG00408.hp2 HG00438.hp1 HG00544.hp2 others(51): Show HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp2 HG00673.hp2 HG01123.hp2 HG01346.hp2 HG01358.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp2 HG02027.hp2 HG02056.hp1 HG02135.hp2 HG02148.hp2 HG02293.hp2 HG02451.hp1 HG02630.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03195.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp2 NA18939.hp1 NA18943.hp2 NA18950.hp1 NA18963.hp1 NA18966.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18979.hp2 NA18994.hp2 NA19001.hp2 NA19002.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19088.hp1 NA19091.hp1 NA20752.hp2	a0004 a0004	a0004c0004 a0004c0008 a0004c0011 others(4): Show a0004c0004 a0004c0008 a0004c0011 a0004c0019 a0004c0026 a0004c0027 a0004c0028	a0004c0004t0003 a0004c0004t0006 a0004c0008t0001 others(6): Show a0004c0004t0003 a0004c0004t0006 a0004c0008t0001 a0004c0008t0004 a0004c0011t0004 a0004c0019t0001 a0004c0026t0003 a0004c0027t0001 a0004c0028t0001	a0004c0004t0003g0005 a0004c0004t0003g0010 a0004c0004t0003g0028 others(43): Show a0004c0004t0003g0005 a0004c0004t0003g0010 a0004c0004t0003g0028 a0004c0004t0003g0088 a0004c0004t0003g0098 a0004c0004t0003g0103 a0004c0004t0003g0105 a0004c0004t0003g0109 a0004c0004t0003g0110 a0004c0004t0003g0111 a0004c0004t0003g0112 a0004c0004t0003g0118 a0004c0004t0003g0121 a0004c0004t0003g0122 a0004c0004t0003g0127 a0004c0004t0003g0130 a0004c0004t0003g0131 a0004c0004t0003g0132 a0004c0004t0003g0133 a0004c0004t0003g0136 a0004c0004t0003g0230 a0004c0004t0006g0140 a0004c0008t0001g0080 a0004c0008t0001g0106 a0004c0008t0001g0107 a0004c0008t0001g0113 a0004c0008t0001g0114 a0004c0008t0001g0117 a0004c0008t0001g0119 a0004c0008t0001g0123 a0004c0008t0001g0125 a0004c0008t0001g0129 a0004c0008t0004g0102 a0004c0008t0004g0116 a0004c0011t0004g0011 a0004c0011t0004g0104 a0004c0011t0004g0120 a0004c0011t0004g0124 a0004c0011t0004g0134 a0004c0011t0004g0135 a0004c0011t0004g0342 a0004c0019t0001g0126 a0004c0019t0001g0128 a0004c0026t0003g0108 a0004c0027t0001g0226 a0004c0028t0001g0115	54	448	0.1205	0	c.452 others(3): Show c.452G>A	p.Trp others(4): Show p.Trp151*	UNC93A	ENSG00000112494.10	transcript	ENST00000230256.8	protein_coding	3/8	627/2111	452/1374	151/457		chr6	TogoVar
VCX3B_chrX_8459830_8471510	8465484	GC GC	G G	frameshift_variant frameshift_variant	HIGH	HG01123.hp1 HG01123.hp1	a0082 a0082	a0082c0034 a0082c0034	a0082c0034t0038 a0082c0034t0038	a0082c0034t0038g0060 a0082c0034t0038g0060	1	271	0.0037	-1	c.36d others(3): Show c.36delC	p.Lys others(4): Show p.Lys13fs	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding	2/3	343/1175	36/741	12/246	INFO_REALIGN_3_PRIME	chrX	TogoVar
VDR_chr12_47836537_47909994	47879112	A A	G G	start_lost start_lost	HIGH	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp2 NA19088.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0001c0016 a0003c0012 a0004c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(67): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0003t0002 a0001c0003t0007 a0001c0003t0009 a0001c0003t0010 a0001c0003t0017 a0001c0003t0023 a0001c0003t0030 a0001c0003t0035 a0001c0003t0040 a0001c0003t0042 a0001c0003t0044 a0001c0003t0049 a0001c0003t0066 a0001c0006t0026 a0001c0007t0012 a0001c0008t0002 a0001c0008t0010 a0001c0009t0014 a0001c0009t0062 a0001c0011t0050 a0001c0013t0043 a0001c0014t0025 a0001c0016t0025 a0003c0012t0001 a0004c0015t0011	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 others(234): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0064 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0111 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0265 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0003g0001 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0063 a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0172 a0001c0001t0003g0188 a0001c0001t0003g0190 a0001c0001t0003g0203 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0256 a0001c0001t0003g0267 a0001c0001t0004g0025 a0001c0001t0004g0036 a0001c0001t0004g0065 a0001c0001t0004g0080 a0001c0001t0004g0090 a0001c0001t0004g0125 a0001c0001t0004g0128 a0001c0001t0004g0140 a0001c0001t0004g0141 a0001c0001t0004g0144 a0001c0001t0004g0165 a0001c0001t0004g0171 a0001c0001t0004g0234 a0001c0001t0004g0266 a0001c0001t0004g0285 a0001c0001t0004g0293 a0001c0001t0004g0324 a0001c0001t0004g0339 a0001c0001t0004g0341 a0001c0001t0005g0079 a0001c0001t0005g0091 a0001c0001t0005g0112 a0001c0001t0005g0136 a0001c0001t0005g0143 a0001c0001t0005g0168 a0001c0001t0005g0245 a0001c0001t0005g0261 a0001c0001t0005g0315 a0001c0001t0006g0009 a0001c0001t0006g0013 a0001c0001t0006g0118 a0001c0001t0006g0151 a0001c0001t0006g0156 a0001c0001t0006g0198 a0001c0001t0006g0211 a0001c0001t0006g0222 a0001c0001t0006g0240 a0001c0001t0006g0241 a0001c0001t0006g0253 a0001c0001t0006g0310 a0001c0001t0007g0041 a0001c0001t0007g0074 a0001c0001t0007g0087 a0001c0001t0007g0130 a0001c0001t0007g0173 a0001c0001t0007g0202 a0001c0001t0007g0235 a0001c0001t0008g0273 a0001c0001t0008g0279 a0001c0001t0008g0330 a0001c0001t0008g0340 a0001c0001t0009g0345 a0001c0001t0009g0352 a0001c0001t0011g0052 a0001c0001t0011g0213 a0001c0001t0011g0214 a0001c0001t0011g0215 a0001c0001t0013g0005 a0001c0001t0013g0114 a0001c0001t0013g0262 a0001c0001t0013g0302 a0001c0001t0014g0030 a0001c0001t0014g0318 a0001c0001t0015g0329 a0001c0001t0015g0337 a0001c0001t0016g0024 a0001c0001t0016g0343 a0001c0001t0018g0135 a0001c0001t0018g0201 a0001c0001t0019g0109 a0001c0001t0020g0042 a0001c0001t0020g0078 a0001c0001t0021g0031 a0001c0001t0021g0032 a0001c0001t0021g0297 a0001c0001t0022g0071 a0001c0001t0022g0072 a0001c0001t0024g0053 a0001c0001t0024g0351 a0001c0001t0027g0002 a0001c0001t0028g0282 a0001c0001t0028g0301 a0001c0001t0029g0045 a0001c0001t0029g0319 a0001c0001t0032g0292 a0001c0001t0033g0278 a0001c0001t0034g0353 a0001c0001t0036g0210 a0001c0001t0037g0182 a0001c0001t0038g0023 a0001c0001t0041g0326 a0001c0001t0045g0259 a0001c0001t0046g0350 a0001c0001t0047g0208 a0001c0001t0052g0161 a0001c0001t0053g0288 a0001c0001t0054g0295 a0001c0001t0056g0296 a0001c0001t0057g0287 a0001c0001t0059g0034 a0001c0001t0060g0243 a0001c0001t0063g0191 a0001c0001t0064g0237 a0001c0001t0065g0338 a0001c0001t0068g0206 a0001c0001t0069g0336 a0001c0001t0070g0196 a0001c0003t0002g0007 a0001c0003t0002g0019 a0001c0003t0002g0026 a0001c0003t0002g0029 a0001c0003t0002g0038 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0060 a0001c0003t0002g0061 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0075 a0001c0003t0002g0081 a0001c0003t0002g0083 a0001c0003t0002g0086 a0001c0003t0002g0093 a0001c0003t0002g0134 a0001c0003t0002g0145 a0001c0003t0002g0150 a0001c0003t0002g0192 a0001c0003t0002g0194 a0001c0003t0002g0197 a0001c0003t0002g0221 a0001c0003t0002g0228 a0001c0003t0002g0231 a0001c0003t0002g0239 a0001c0003t0002g0246 a0001c0003t0002g0250 a0001c0003t0002g0289 a0001c0003t0002g0298 a0001c0003t0002g0321 a0001c0003t0002g0342 a0001c0003t0002g0346 a0001c0003t0002g0347 a0001c0003t0007g0183 a0001c0003t0009g0054 a0001c0003t0009g0122 a0001c0003t0009g0185 a0001c0003t0009g0195 a0001c0003t0010g0212 a0001c0003t0010g0251 a0001c0003t0010g0333 a0001c0003t0017g0008 a0001c0003t0017g0258 a0001c0003t0023g0051 a0001c0003t0023g0306 a0001c0003t0030g0334 a0001c0003t0035g0070 a0001c0003t0040g0316 a0001c0003t0042g0331 a0001c0003t0044g0299 a0001c0003t0049g0066 a0001c0003t0066g0335 a0001c0006t0026g0123 a0001c0006t0026g0356 a0001c0007t0012g0107 a0001c0007t0012g0108 a0001c0008t0002g0332 a0001c0008t0010g0281 a0001c0009t0014g0283 a0001c0009t0062g0307 a0001c0011t0050g0044 a0001c0013t0043g0037 a0001c0014t0025g0325 a0001c0016t0025g0028 a0003c0012t0001g0313 a0004c0015t0011g0216	239	358	0.6676	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	VDR	ENSG00000111424.12	transcript	ENST00000549336.6	protein_coding	3/10	125/4616	2/1284	1/427		chr12	TogoVar
VSIG10L_chr19_51326541_51347139	51332638	T T	TG TG	frameshift_variant others(1): Show frameshift_variant splice_region_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(448): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.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 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 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 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.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 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0002 a0000 a0002	a0000c0001 a0000c0002 a0000c0003 others(24): Show a0000c0001 a0000c0002 a0000c0003 a0000c0004 a0000c0005 a0000c0006 a0000c0007 a0000c0008 a0000c0009 a0000c0010 a0000c0011 a0000c0012 a0000c0013 a0000c0014 a0000c0015 a0000c0017 a0000c0018 a0000c0019 a0000c0020 a0000c0021 a0000c0023 a0000c0024 a0000c0025 a0000c0026 a0000c0027 a0000c0028 a0002c0016	a0000c0001t0001 a0000c0001t0002 a0000c0001t0006 others(40): Show a0000c0001t0001 a0000c0001t0002 a0000c0001t0006 a0000c0001t0010 a0000c0001t0016 a0000c0002t0001 a0000c0002t0002 a0000c0002t0011 a0000c0002t0012 a0000c0003t0001 a0000c0003t0002 a0000c0003t0007 a0000c0004t0003 a0000c0004t0013 a0000c0004t0017 a0000c0005t0001 a0000c0005t0008 a0000c0005t0009 a0000c0006t0001 a0000c0006t0003 a0000c0006t0014 a0000c0007t0001 a0000c0008t0004 a0000c0009t0001 a0000c0009t0015 a0000c0010t0005 a0000c0011t0001 a0000c0012t0007 a0000c0013t0002 a0000c0014t0001 a0000c0015t0001 a0000c0017t0001 a0000c0018t0001 a0000c0019t0001 a0000c0020t0003 a0000c0021t0001 a0000c0023t0001 a0000c0024t0001 a0000c0025t0001 a0000c0026t0001 a0000c0027t0003 a0000c0028t0002 a0002c0016t0001	a0000c0001t0001g0004 a0000c0001t0001g0012 a0000c0001t0001g0014 others(104): Show a0000c0001t0001g0004 a0000c0001t0001g0012 a0000c0001t0001g0014 a0000c0001t0001g0019 a0000c0001t0001g0023 a0000c0001t0001g0028 a0000c0001t0001g0081 a0000c0001t0001g0084 a0000c0001t0001g0090 a0000c0001t0001g0091 a0000c0001t0002g0002 a0000c0001t0002g0009 a0000c0001t0002g0020 a0000c0001t0002g0037 a0000c0001t0002g0082 a0000c0001t0002g0088 a0000c0001t0002g0092 a0000c0001t0002g0093 a0000c0001t0002g0095 a0000c0001t0002g0096 a0000c0001t0002g0108 a0000c0001t0006g0022 a0000c0001t0006g0083 a0000c0001t0010g0036 a0000c0001t0016g0089 a0000c0002t0001g0001 a0000c0002t0001g0011 a0000c0002t0001g0017 a0000c0002t0001g0021 a0000c0002t0001g0030 a0000c0002t0001g0048 a0000c0002t0001g0050 a0000c0002t0001g0054 a0000c0002t0001g0058 a0000c0002t0001g0059 a0000c0002t0001g0060 a0000c0002t0001g0062 a0000c0002t0001g0063 a0000c0002t0001g0066 a0000c0002t0001g0067 a0000c0002t0001g0069 a0000c0002t0002g0055 a0000c0002t0011g0056 a0000c0002t0012g0057 a0000c0003t0001g0003 a0000c0003t0001g0006 a0000c0003t0001g0027 a0000c0003t0001g0034 a0000c0003t0001g0072 a0000c0003t0001g0073 a0000c0003t0001g0077 a0000c0003t0001g0078 a0000c0003t0001g0080 a0000c0003t0001g0085 a0000c0003t0001g0086 a0000c0003t0001g0087 a0000c0003t0002g0033 a0000c0003t0007g0079 a0000c0004t0003g0005 a0000c0004t0003g0018 a0000c0004t0003g0049 a0000c0004t0013g0061 a0000c0004t0017g0068 a0000c0005t0001g0013 a0000c0005t0001g0040 a0000c0005t0001g0099 a0000c0005t0001g0100 a0000c0005t0001g0101 a0000c0005t0001g0102 a0000c0005t0001g0104 a0000c0005t0001g0105 a0000c0005t0008g0029 a0000c0005t0009g0039 a0000c0005t0009g0103 a0000c0006t0001g0007 a0000c0006t0001g0032 a0000c0006t0003g0098 a0000c0006t0014g0075 a0000c0007t0001g0008 a0000c0007t0001g0041 a0000c0007t0001g0042 a0000c0007t0001g0043 a0000c0008t0004g0010 a0000c0009t0001g0016 a0000c0009t0001g0024 a0000c0009t0015g0053 a0000c0010t0005g0015 a0000c0010t0005g0046 a0000c0011t0001g0026 a0000c0011t0001g0071 a0000c0012t0007g0025 a0000c0013t0002g0038 a0000c0013t0002g0094 a0000c0014t0001g0031 a0000c0015t0001g0035 a0000c0017t0001g0045 a0000c0018t0001g0047 a0000c0019t0001g0051 a0000c0020t0003g0052 a0000c0021t0001g0064 a0000c0023t0001g0070 a0000c0024t0001g0076 a0000c0025t0001g0074 a0000c0026t0001g0097 a0000c0027t0003g0106 a0000c0028t0002g0107 a0002c0016t0001g0044	451	452	0.9978	1	c.257 others(5): Show c.2576dupC	p.Gln others(5): Show p.Gln860fs	VSIG10L	ENSG00000186806.6	transcript	ENST00000335624.5	protein_coding	10/10	2591/3689	2576/2604	859/867		chr19	TogoVar
VWDE_chr7_12325885_12408865	12375099	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00423.hp1 HG00558.hp1 others(70): Show HG00099.hp1 HG00423.hp1 HG00558.hp1 HG00673.hp1 HG00741.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG02015.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02615.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18968.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp1 NA19004.hp1 NA19005.hp1 NA19012.hp1 NA19054.hp1 NA19057.hp1 NA19059.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19075.hp2 NA19079.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp2	a0002 a0008 a0011 others(3): Show a0002 a0008 a0011 a0019 a0026 a0038	a0002c0002 a0002c0043 a0002c0044 others(12): Show a0002c0002 a0002c0043 a0002c0044 a0002c0045 a0002c0046 a0002c0047 a0008c0012 a0008c0028 a0008c0068 a0008c0069 a0011c0010 a0019c0027 a0019c0060 a0026c0035 a0038c0049	a0002c0002t0004 a0002c0043t0005 a0002c0044t0014 others(12): Show a0002c0002t0004 a0002c0043t0005 a0002c0044t0014 a0002c0045t0005 a0002c0046t0004 a0002c0047t0007 a0008c0012t0003 a0008c0028t0002 a0008c0068t0001 a0008c0069t0015 a0011c0010t0007 a0019c0027t0001 a0019c0060t0006 a0026c0035t0001 a0038c0049t0005	a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0003 others(44): Show a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0003 a0002c0002t0004g0008 a0002c0002t0004g0040 a0002c0002t0004g0041 a0002c0002t0004g0251 a0002c0002t0004g0253 a0002c0002t0004g0254 a0002c0002t0004g0255 a0002c0002t0004g0256 a0002c0002t0004g0257 a0002c0002t0004g0258 a0002c0002t0004g0259 a0002c0002t0004g0261 a0002c0002t0004g0262 a0002c0002t0004g0263 a0002c0002t0004g0264 a0002c0002t0004g0268 a0002c0002t0004g0269 a0002c0002t0004g0270 a0002c0002t0004g0272 a0002c0002t0004g0273 a0002c0002t0004g0274 a0002c0043t0005g0260 a0002c0044t0014g0267 a0002c0045t0005g0286 a0002c0046t0004g0271 a0002c0047t0007g0289 a0008c0012t0003g0013 a0008c0012t0003g0014 a0008c0012t0003g0051 a0008c0028t0002g0200 a0008c0028t0002g0238 a0008c0068t0001g0165 a0008c0069t0015g0252 a0011c0010t0007g0042 a0011c0010t0007g0279 a0011c0010t0007g0280 a0011c0010t0007g0287 a0011c0010t0007g0288 a0019c0027t0001g0110 a0019c0027t0001g0164 a0019c0060t0006g0127 a0026c0035t0001g0183 a0026c0035t0001g0184 a0038c0049t0005g0293	73	374	0.1952	0	c.115 others(4): Show c.1153C>T	p.Arg others(4): Show p.Arg385*	VWDE	ENSG00000146530.15	transcript	ENST00000275358.8	protein_coding	8/29	1302/5220	1153/4773	385/1590		chr7	TogoVar
ZDHHC11B_chr5_705355_789729	766918	A A	C C	start_lost others(1): Show start_lost splice_region_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG04115.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18983.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0021 a0001 a0021	a0001c0001 a0001c0002 a0001c0003 others(37): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0025 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0021c0049	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 others(86): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0026 a0001c0001t0035 a0001c0001t0038 a0001c0001t0047 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0075 a0001c0002t0003 a0001c0002t0006 a0001c0002t0022 a0001c0002t0040 a0001c0002t0050 a0001c0002t0065 a0001c0002t0070 a0001c0003t0002 a0001c0003t0006 a0001c0003t0010 a0001c0003t0028 a0001c0003t0033 a0001c0003t0035 a0001c0003t0067 a0001c0004t0002 a0001c0004t0005 a0001c0004t0006 a0001c0004t0007 a0001c0004t0012 a0001c0004t0028 a0001c0004t0044 a0001c0004t0049 a0001c0004t0054 a0001c0005t0001 a0001c0005t0017 a0001c0005t0018 a0001c0005t0020 a0001c0005t0046 a0001c0008t0007 a0001c0009t0021 a0001c0009t0029 a0001c0009t0039 a0001c0010t0013 a0001c0010t0072 a0001c0011t0015 a0001c0011t0055 a0001c0013t0012 a0001c0013t0015 a0001c0014t0032 a0001c0014t0059 a0001c0014t0076 a0001c0015t0005 a0001c0015t0012 a0001c0016t0027 a0001c0016t0060 a0001c0020t0037 a0001c0021t0001 a0001c0021t0056 a0001c0022t0048 a0001c0022t0073 a0001c0023t0036 a0001c0024t0019 a0001c0025t0016 a0001c0029t0018 a0001c0030t0019 a0001c0031t0010 a0001c0032t0010 a0001c0033t0064 a0001c0034t0003 a0001c0035t0074 a0001c0036t0013 a0001c0037t0010 a0001c0038t0038 a0001c0039t0066 a0001c0040t0005 a0001c0041t0003 a0001c0042t0068 a0001c0043t0045 a0001c0044t0001 a0001c0045t0027 a0001c0046t0016 a0001c0047t0016 a0001c0048t0016 a0021c0049t0069	a0001c0001t0001g0003 a0001c0001t0001g0062 a0001c0001t0001g0063 others(207): Show a0001c0001t0001g0003 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0167 a0001c0001t0008g0214 a0001c0001t0008g0215 a0001c0001t0008g0216 a0001c0001t0008g0236 a0001c0001t0008g0237 a0001c0001t0008g0251 a0001c0001t0008g0252 a0001c0001t0008g0253 a0001c0001t0008g0254 a0001c0001t0008g0258 a0001c0001t0017g0007 a0001c0001t0017g0030 a0001c0001t0017g0031 a0001c0001t0018g0263 a0001c0001t0020g0067 a0001c0001t0020g0074 a0001c0001t0026g0105 a0001c0001t0026g0106 a0001c0001t0026g0137 a0001c0001t0035g0059 a0001c0001t0038g0211 a0001c0001t0047g0012 a0001c0001t0057g0102 a0001c0001t0058g0055 a0001c0001t0061g0111 a0001c0001t0062g0104 a0001c0001t0063g0142 a0001c0001t0075g0212 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0220 a0001c0002t0003g0221 a0001c0002t0003g0222 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0239 a0001c0002t0003g0242 a0001c0002t0003g0264 a0001c0002t0006g0051 a0001c0002t0006g0052 a0001c0002t0006g0075 a0001c0002t0006g0092 a0001c0002t0006g0100 a0001c0002t0006g0114 a0001c0002t0006g0115 a0001c0002t0006g0140 a0001c0002t0022g0057 a0001c0002t0022g0058 a0001c0002t0022g0150 a0001c0002t0040g0027 a0001c0002t0050g0166 a0001c0002t0065g0229 a0001c0002t0070g0244 a0001c0003t0002g0001 a0001c0003t0002g0056 a0001c0003t0002g0065 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0071 a0001c0003t0002g0072 a0001c0003t0002g0073 a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0082 a0001c0003t0002g0085 a0001c0003t0002g0087 a0001c0003t0002g0088 a0001c0003t0002g0093 a0001c0003t0002g0141 a0001c0003t0002g0153 a0001c0003t0006g0079 a0001c0003t0006g0084 a0001c0003t0010g0213 a0001c0003t0010g0247 a0001c0003t0010g0256 a0001c0003t0010g0262 a0001c0003t0010g0265 a0001c0003t0028g0026 a0001c0003t0033g0080 a0001c0003t0033g0081 a0001c0003t0035g0098 a0001c0003t0067g0246 a0001c0004t0002g0151 a0001c0004t0005g0009 a0001c0004t0005g0017 a0001c0004t0005g0025 a0001c0004t0005g0037 a0001c0004t0005g0041 a0001c0004t0005g0042 a0001c0004t0005g0045 a0001c0004t0005g0046 a0001c0004t0005g0049 a0001c0004t0006g0083 a0001c0004t0007g0040 a0001c0004t0007g0043 a0001c0004t0007g0044 a0001c0004t0012g0165 a0001c0004t0028g0039 a0001c0004t0044g0011 a0001c0004t0049g0070 a0001c0004t0054g0053 a0001c0005t0001g0060 a0001c0005t0001g0061 a0001c0005t0001g0101 a0001c0005t0001g0107 a0001c0005t0001g0112 a0001c0005t0001g0126 a0001c0005t0001g0127 a0001c0005t0001g0130 a0001c0005t0001g0139 a0001c0005t0017g0036 a0001c0005t0018g0233 a0001c0005t0018g0234 a0001c0005t0020g0076 a0001c0005t0046g0038 a0001c0008t0007g0018 a0001c0008t0007g0019 a0001c0008t0007g0020 a0001c0008t0007g0021 a0001c0008t0007g0022 a0001c0008t0007g0023 a0001c0008t0007g0050 a0001c0009t0021g0154 a0001c0009t0021g0170 a0001c0009t0021g0171 a0001c0009t0029g0028 a0001c0009t0029g0029 a0001c0009t0039g0024 a0001c0010t0013g0199 a0001c0010t0013g0200 a0001c0010t0013g0202 a0001c0010t0013g0203 a0001c0010t0013g0204 a0001c0010t0072g0206 a0001c0011t0015g0091 a0001c0011t0015g0143 a0001c0011t0015g0144 a0001c0011t0015g0145 a0001c0011t0055g0146 a0001c0013t0012g0002 a0001c0013t0012g0099 a0001c0013t0015g0090 a0001c0014t0032g0047 a0001c0014t0032g0048 a0001c0014t0059g0122 a0001c0014t0076g0241 a0001c0015t0005g0034 a0001c0015t0012g0005 a0001c0016t0027g0201 a0001c0016t0027g0210 a0001c0016t0060g0172 a0001c0020t0037g0006 a0001c0021t0001g0133 a0001c0021t0056g0149 a0001c0022t0048g0168 a0001c0022t0073g0238 a0001c0023t0036g0249 a0001c0023t0036g0250 a0001c0024t0019g0131 a0001c0024t0019g0132 a0001c0025t0016g0195 a0001c0025t0016g0197 a0001c0029t0018g0240 a0001c0030t0019g0152 a0001c0031t0010g0257 a0001c0032t0010g0259 a0001c0033t0064g0194 a0001c0034t0003g0219 a0001c0035t0074g0235 a0001c0036t0013g0248 a0001c0037t0010g0260 a0001c0038t0038g0255 a0001c0039t0066g0207 a0001c0040t0005g0016 a0001c0041t0003g0243 a0001c0042t0068g0209 a0001c0043t0045g0013 a0001c0044t0001g0169 a0001c0045t0027g0208 a0001c0046t0016g0196 a0001c0047t0016g0205 a0001c0048t0016g0198 a0021c0049t0069g0245	215	271	0.7934	0	c.2T> others(1): Show c.2T>G	p.Met others(2): Show p.Met1?	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	4/14	293/3342	2/1116	1/371		chr5	TogoVar
ZFYVE19_chr15_40802089_40820084	40807701	T T	TGGGGC TGGGGC	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00544.hp2 HG00558.hp1 others(115): Show HG00099.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01361.hp1 HG01496.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03017.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18948.hp2 NA18953.hp2 NA18960.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18969.hp1 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19065.hp2 NA19070.hp1 NA19078.hp1 NA19080.hp1 NA19085.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0008	a0002c0002 a0002c0016 a0002c0017 others(3): Show a0002c0002 a0002c0016 a0002c0017 a0005c0005 a0006c0015 a0008c0008	a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 others(8): Show a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0014 a0002c0002t0015 a0002c0016t0003 a0002c0017t0003 a0005c0005t0004 a0005c0005t0007 a0006c0015t0003 a0008c0008t0003	a0002c0002t0003g0002 a0002c0002t0003g0007 a0002c0002t0003g0011 others(23): Show a0002c0002t0003g0002 a0002c0002t0003g0007 a0002c0002t0003g0011 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0030 a0002c0002t0003g0033 a0002c0002t0003g0035 a0002c0002t0003g0037 a0002c0002t0005g0015 a0002c0002t0005g0029 a0002c0002t0005g0034 a0002c0002t0005g0036 a0002c0002t0005g0038 a0002c0002t0008g0019 a0002c0002t0014g0002 a0002c0002t0015g0002 a0002c0016t0003g0002 a0002c0017t0003g0032 a0005c0005t0004g0010 a0005c0005t0004g0022 a0005c0005t0004g0023 a0005c0005t0004g0039 a0005c0005t0007g0016 a0006c0015t0003g0031 a0008c0008t0003g0002	118	382	0.3089	5	c.118 others(12): Show c.118_122dupGGGGC	p.Arg others(4): Show p.Arg48fs	ZFYVE19	ENSG00000166140.17	transcript	ENST00000355341.8	protein_coding	1/11	624/2775	123/1416	41/471	INFO_REALIGN_3_PRIME	chr15	TogoVar
ZNF480_chr19_52292169_52330922	52300416	CTG CTG	C C	frameshift_variant frameshift_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(217): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(4): Show a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0001c0010 a0001c0011	a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 others(11): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0010 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0012 a0001c0003t0014 a0001c0003t0016 a0001c0004t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0002 a0001c0011t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0015 others(157): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0033 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0037 a0001c0002t0001g0060 a0001c0002t0001g0072 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0095 a0001c0002t0001g0103 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0147 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0178 a0001c0002t0001g0180 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0195 a0001c0002t0001g0200 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0219 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0273 a0001c0002t0006g0177 a0001c0002t0006g0182 a0001c0002t0006g0183 a0001c0002t0006g0184 a0001c0002t0006g0192 a0001c0002t0010g0001 a0001c0002t0010g0170 a0001c0002t0021g0002 a0001c0003t0001g0050 a0001c0003t0001g0052 a0001c0003t0001g0099 a0001c0003t0001g0171 a0001c0003t0001g0172 a0001c0003t0001g0235 a0001c0003t0001g0243 a0001c0003t0002g0003 a0001c0003t0002g0006 a0001c0003t0002g0011 a0001c0003t0002g0014 a0001c0003t0002g0021 a0001c0003t0002g0032 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0048 a0001c0003t0002g0049 a0001c0003t0002g0051 a0001c0003t0002g0059 a0001c0003t0002g0091 a0001c0003t0002g0092 a0001c0003t0002g0093 a0001c0003t0002g0096 a0001c0003t0002g0098 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0115 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0132 a0001c0003t0002g0136 a0001c0003t0002g0143 a0001c0003t0002g0144 a0001c0003t0002g0145 a0001c0003t0002g0160 a0001c0003t0002g0168 a0001c0003t0002g0169 a0001c0003t0002g0175 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0234 a0001c0003t0002g0267 a0001c0003t0012g0094 a0001c0003t0014g0196 a0001c0003t0016g0097 a0001c0004t0001g0001 a0001c0004t0001g0012 a0001c0004t0001g0019 a0001c0004t0001g0022 a0001c0004t0001g0030 a0001c0004t0001g0031 a0001c0004t0001g0036 a0001c0004t0001g0041 a0001c0004t0001g0044 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0055 a0001c0004t0001g0056 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0061 a0001c0004t0001g0062 a0001c0004t0001g0063 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0069 a0001c0004t0001g0070 a0001c0004t0001g0071 a0001c0004t0001g0073 a0001c0004t0001g0085 a0001c0004t0001g0088 a0001c0004t0001g0104 a0001c0004t0001g0116 a0001c0004t0001g0117 a0001c0004t0001g0141 a0001c0004t0001g0161 a0001c0004t0001g0176 a0001c0004t0001g0179 a0001c0004t0001g0181 a0001c0004t0001g0197 a0001c0004t0001g0198 a0001c0004t0001g0199 a0001c0004t0001g0201 a0001c0004t0001g0202 a0001c0004t0001g0206 a0001c0004t0001g0220 a0001c0004t0001g0223 a0001c0004t0001g0224 a0001c0004t0001g0225 a0001c0004t0001g0227 a0001c0008t0001g0246 a0001c0009t0001g0236 a0001c0010t0002g0105 a0001c0011t0001g0031	220	378	0.5820	-2	c.9_1 others(6): Show c.9_10delTG	p.Cys others(3): Show p.Cys3fs	ZNF480	ENSG00000198464.14	transcript	ENST00000595962.6	protein_coding	2/5	83/4746	9/1608	3/535	INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF528_chr19_52392849_52423401	52401662	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00609.hp2 HG00673.hp2 others(38): Show HG00438.hp1 HG00609.hp2 HG00673.hp2 HG01123.hp1 HG01123.hp2 HG01175.hp2 HG01257.hp2 HG01496.hp2 HG02056.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02717.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18953.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18999.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp1 NA19058.hp1 NA19059.hp2 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp1 NA19084.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0018 a0003c0004t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0141 others(15): Show a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0141 a0001c0001t0001g0180 a0001c0001t0003g0005 a0001c0001t0003g0014 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0037 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0093 a0001c0001t0003g0142 a0001c0001t0003g0230 a0001c0001t0003g0242 a0001c0001t0007g0200 a0001c0001t0018g0167 a0003c0004t0001g0106	41	476	0.0861	2	c.-13 others(15): Show c.-136-4_-136-3dupTT		ZNF528	ENSG00000167555.14	transcript	ENST00000360465.8	protein_coding	2/6				INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF567_chr19_36682612_36726336	36689395	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(155): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02602.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03239.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03579.hp2 HG03688.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0009 a0002c0006 others(2): Show a0001c0001 a0001c0009 a0002c0006 a0003c0007 a0005c0010	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0009t0001 a0002c0006t0001 a0003c0007t0001 a0005c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(101): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0008g0158 a0001c0009t0001g0169 a0002c0006t0001g0001 a0002c0006t0001g0027 a0002c0006t0001g0174 a0002c0006t0001g0175 a0002c0006t0001g0194 a0002c0006t0001g0201 a0002c0006t0001g0202 a0003c0007t0001g0183 a0003c0007t0001g0193 a0003c0007t0001g0198 a0005c0010t0001g0230	158	386	0.4093	0	c.-16 others(6): Show c.-167-2A>G		ZNF567	ENSG00000189042.14	transcript	ENST00000682579.1	protein_coding	1/5					chr19	TogoVar
ZNF579_chr19_55571774_55585848	55578176	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00423.hp1 HG00423.hp2 others(114): Show HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01993.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18949.hp2 NA18960.hp1 NA18973.hp2 NA18977.hp2 NA18980.hp2 NA18985.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19064.hp1 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp1 NA20752.hp2	a0004 a0005 a0006 others(8): Show a0004 a0005 a0006 a0012 a0013 a0015 a0021 a0025 a0029 a0030 a0031	a0004c0004 a0005c0008 a0005c0010 others(14): Show a0004c0004 a0005c0008 a0005c0010 a0005c0012 a0005c0018 a0005c0024 a0005c0029 a0006c0005 a0006c0038 a0012c0016 a0013c0017 a0015c0021 a0021c0034 a0025c0032 a0029c0042 a0030c0045 a0031c0046	a0004c0004t0001 a0005c0008t0001 a0005c0008t0006 others(18): Show a0004c0004t0001 a0005c0008t0001 a0005c0008t0006 a0005c0010t0001 a0005c0010t0002 a0005c0012t0004 a0005c0012t0007 a0005c0018t0003 a0005c0024t0003 a0005c0024t0005 a0005c0029t0001 a0006c0005t0002 a0006c0038t0002 a0012c0016t0001 a0013c0017t0001 a0015c0021t0001 a0021c0034t0006 a0025c0032t0004 a0029c0042t0008 a0030c0045t0001 a0031c0046t0001	a0004c0004t0001g0002 a0004c0004t0001g0037 a0005c0008t0001g0007 others(24): Show a0004c0004t0001g0002 a0004c0004t0001g0037 a0005c0008t0001g0007 a0005c0008t0001g0030 a0005c0008t0006g0043 a0005c0010t0001g0053 a0005c0010t0002g0012 a0005c0010t0002g0034 a0005c0010t0002g0044 a0005c0012t0004g0017 a0005c0012t0007g0079 a0005c0018t0003g0023 a0005c0024t0003g0075 a0005c0024t0005g0072 a0005c0029t0001g0041 a0006c0005t0002g0005 a0006c0005t0002g0014 a0006c0005t0002g0040 a0006c0038t0002g0050 a0012c0016t0001g0018 a0013c0017t0001g0019 a0015c0021t0001g0027 a0021c0034t0006g0082 a0025c0032t0004g0039 a0029c0042t0008g0057 a0030c0045t0001g0060 a0031c0046t0001g0061	117	416	0.2813	1	c.146 others(5): Show c.1463dupC	p.Pro others(5): Show p.Pro489fs	ZNF579	ENSG00000218891.5	transcript	ENST00000325421.7	protein_coding	2/2	1519/2922	1463/1689	488/562		chr19	TogoVar
ZNF626_chr19_20614939_20666571	20624327	GGCTTTGC others(160): Show GGCTTTGCCACATTCTTCACATTTGTAGAATTTCTCTCCAGTATGATTCT CTCATGTGTAGTAAGGATTGAGGACTGGTTGAAGGCTTTGCCACATTCTT CACATTTGTAGGGTCTCTCTCCAGTATGAATTTTCTTATGTGTAGTAAGG TTAGAGGAGCACTTAAAA	G G	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0000 a0004 a0000 a0004	a0000c0001 a0000c0004 a0000c0005 others(9): Show a0000c0001 a0000c0004 a0000c0005 a0000c0006 a0000c0007 a0000c0009 a0000c0012 a0000c0014 a0000c0015 a0000c0016 a0000c0017 a0004c0010	a0000c0001t0001 a0000c0001t0002 a0000c0001t0003 others(50): Show a0000c0001t0001 a0000c0001t0002 a0000c0001t0003 a0000c0001t0005 a0000c0001t0010 a0000c0001t0013 a0000c0001t0014 a0000c0001t0015 a0000c0001t0016 a0000c0001t0017 a0000c0001t0023 a0000c0001t0034 a0000c0001t0035 a0000c0001t0036 a0000c0001t0037 a0000c0001t0038 a0000c0001t0042 a0000c0001t0043 a0000c0001t0049 a0000c0001t0050 a0000c0001t0052 a0000c0001t0053 a0000c0001t0054 a0000c0001t0055 a0000c0001t0056 a0000c0001t0057 a0000c0001t0058 a0000c0001t0059 a0000c0001t0060 a0000c0001t0061 a0000c0001t0065 a0000c0001t0066 a0000c0001t0067 a0000c0001t0068 a0000c0004t0007 a0000c0004t0012 a0000c0004t0024 a0000c0004t0039 a0000c0005t0002 a0000c0005t0003 a0000c0006t0018 a0000c0006t0019 a0000c0006t0030 a0000c0007t0007 a0000c0007t0012 a0000c0009t0022 a0000c0012t0069 a0000c0014t0051 a0000c0015t0003 a0000c0016t0033 a0000c0017t0014 a0004c0010t0040 a0004c0010t0041	a0000c0001t0001g0001 a0000c0001t0001g0004 a0000c0001t0001g0014 others(254): Show a0000c0001t0001g0001 a0000c0001t0001g0004 a0000c0001t0001g0014 a0000c0001t0001g0016 a0000c0001t0001g0017 a0000c0001t0001g0019 a0000c0001t0001g0029 a0000c0001t0001g0082 a0000c0001t0001g0084 a0000c0001t0001g0088 a0000c0001t0001g0089 a0000c0001t0001g0090 a0000c0001t0001g0091 a0000c0001t0001g0092 a0000c0001t0001g0093 a0000c0001t0001g0094 a0000c0001t0001g0095 a0000c0001t0001g0097 a0000c0001t0001g0100 a0000c0001t0001g0103 a0000c0001t0001g0108 a0000c0001t0001g0109 a0000c0001t0001g0111 a0000c0001t0001g0112 a0000c0001t0001g0115 a0000c0001t0001g0116 a0000c0001t0001g0117 a0000c0001t0001g0118 a0000c0001t0001g0119 a0000c0001t0001g0120 a0000c0001t0001g0121 a0000c0001t0001g0122 a0000c0001t0001g0123 a0000c0001t0001g0124 a0000c0001t0001g0125 a0000c0001t0001g0126 a0000c0001t0001g0127 a0000c0001t0001g0128 a0000c0001t0001g0129 a0000c0001t0001g0130 a0000c0001t0001g0144 a0000c0001t0001g0155 a0000c0001t0001g0157 a0000c0001t0001g0158 a0000c0001t0001g0162 a0000c0001t0001g0163 a0000c0001t0001g0164 a0000c0001t0001g0167 a0000c0001t0001g0168 a0000c0001t0001g0169 a0000c0001t0001g0170 a0000c0001t0001g0171 a0000c0001t0001g0193 a0000c0001t0001g0194 a0000c0001t0001g0195 a0000c0001t0001g0198 a0000c0001t0001g0207 a0000c0001t0002g0005 a0000c0001t0002g0022 a0000c0001t0002g0225 a0000c0001t0002g0227 a0000c0001t0002g0230 a0000c0001t0002g0231 a0000c0001t0002g0234 a0000c0001t0002g0235 a0000c0001t0002g0236 a0000c0001t0002g0237 a0000c0001t0002g0238 a0000c0001t0002g0239 a0000c0001t0002g0241 a0000c0001t0002g0243 a0000c0001t0002g0244 a0000c0001t0002g0245 a0000c0001t0002g0246 a0000c0001t0002g0247 a0000c0001t0002g0249 a0000c0001t0002g0250 a0000c0001t0002g0251 a0000c0001t0002g0252 a0000c0001t0002g0253 a0000c0001t0002g0254 a0000c0001t0002g0255 a0000c0001t0002g0258 a0000c0001t0002g0259 a0000c0001t0002g0260 a0000c0001t0002g0261 a0000c0001t0002g0262 a0000c0001t0002g0263 a0000c0001t0002g0264 a0000c0001t0002g0266 a0000c0001t0002g0267 a0000c0001t0002g0268 a0000c0001t0002g0269 a0000c0001t0002g0270 a0000c0001t0002g0271 a0000c0001t0002g0274 a0000c0001t0002g0276 a0000c0001t0002g0278 a0000c0001t0002g0280 a0000c0001t0002g0281 a0000c0001t0002g0282 a0000c0001t0002g0283 a0000c0001t0002g0284 a0000c0001t0002g0285 a0000c0001t0002g0286 a0000c0001t0002g0287 a0000c0001t0002g0288 a0000c0001t0002g0289 a0000c0001t0002g0290 a0000c0001t0002g0298 a0000c0001t0002g0299 a0000c0001t0002g0300 a0000c0001t0003g0003 a0000c0001t0003g0010 a0000c0001t0003g0028 a0000c0001t0003g0030 a0000c0001t0003g0039 a0000c0001t0003g0056 a0000c0001t0003g0057 a0000c0001t0003g0058 a0000c0001t0003g0059 a0000c0001t0003g0063 a0000c0001t0003g0064 a0000c0001t0003g0065 a0000c0001t0003g0066 a0000c0001t0003g0067 a0000c0001t0003g0068 a0000c0001t0003g0069 a0000c0001t0003g0070 a0000c0001t0003g0071 a0000c0001t0003g0075 a0000c0001t0003g0076 a0000c0001t0003g0077 a0000c0001t0003g0078 a0000c0001t0003g0098 a0000c0001t0003g0099 a0000c0001t0003g0104 a0000c0001t0003g0110 a0000c0001t0003g0113 a0000c0001t0003g0114 a0000c0001t0003g0131 a0000c0001t0003g0135 a0000c0001t0003g0137 a0000c0001t0003g0138 a0000c0001t0003g0141 a0000c0001t0003g0143 a0000c0001t0003g0156 a0000c0001t0003g0174 a0000c0001t0003g0184 a0000c0001t0003g0185 a0000c0001t0003g0186 a0000c0001t0003g0205 a0000c0001t0003g0206 a0000c0001t0003g0211 a0000c0001t0005g0015 a0000c0001t0005g0018 a0000c0001t0005g0083 a0000c0001t0005g0133 a0000c0001t0005g0139 a0000c0001t0005g0145 a0000c0001t0005g0146 a0000c0001t0005g0147 a0000c0001t0005g0148 a0000c0001t0005g0149 a0000c0001t0005g0150 a0000c0001t0005g0151 a0000c0001t0005g0152 a0000c0001t0005g0153 a0000c0001t0005g0154 a0000c0001t0005g0172 a0000c0001t0005g0175 a0000c0001t0010g0009 a0000c0001t0010g0316 a0000c0001t0010g0317 a0000c0001t0010g0327 a0000c0001t0013g0232 a0000c0001t0013g0240 a0000c0001t0013g0256 a0000c0001t0013g0275 a0000c0001t0014g0008 a0000c0001t0015g0072 a0000c0001t0015g0073 a0000c0001t0015g0074 a0000c0001t0016g0006 a0000c0001t0017g0257 a0000c0001t0017g0272 a0000c0001t0017g0295 a0000c0001t0023g0061 a0000c0001t0023g0062 a0000c0001t0034g0102 a0000c0001t0035g0060 a0000c0001t0036g0081 a0000c0001t0037g0166 a0000c0001t0038g0107 a0000c0001t0042g0105 a0000c0001t0043g0165 a0000c0001t0049g0292 a0000c0001t0050g0223 a0000c0001t0052g0248 a0000c0001t0053g0242 a0000c0001t0054g0265 a0000c0001t0055g0277 a0000c0001t0056g0273 a0000c0001t0057g0279 a0000c0001t0058g0224 a0000c0001t0059g0233 a0000c0001t0060g0328 a0000c0001t0061g0314 a0000c0001t0065g0318 a0000c0001t0066g0320 a0000c0001t0067g0330 a0000c0001t0068g0307 a0000c0004t0007g0012 a0000c0004t0007g0013 a0000c0004t0007g0021 a0000c0004t0007g0041 a0000c0004t0007g0042 a0000c0004t0007g0044 a0000c0004t0007g0045 a0000c0004t0007g0046 a0000c0004t0007g0054 a0000c0004t0007g0055 a0000c0004t0007g0183 a0000c0004t0007g0187 a0000c0004t0012g0308 a0000c0004t0012g0310 a0000c0004t0024g0047 a0000c0004t0024g0050 a0000c0004t0039g0040 a0000c0005t0002g0228 a0000c0005t0002g0229 a0000c0005t0003g0011 a0000c0005t0003g0031 a0000c0005t0003g0032 a0000c0005t0003g0033 a0000c0005t0003g0034 a0000c0005t0003g0043 a0000c0005t0003g0048 a0000c0005t0003g0049 a0000c0005t0003g0051 a0000c0006t0018g0304 a0000c0006t0018g0305 a0000c0006t0018g0306 a0000c0006t0019g0020 a0000c0006t0030g0035 a0000c0007t0007g0101 a0000c0007t0012g0023 a0000c0007t0012g0329 a0000c0009t0022g0087 a0000c0009t0022g0177 a0000c0012t0069g0303 a0000c0014t0051g0226 a0000c0015t0003g0037 a0000c0016t0033g0038 a0000c0017t0014g0221 a0004c0010t0040g0203 a0004c0010t0041g0204	294	378	0.7778	-167	c.138 others(9): Show c.1383_1549del	p.Cys others(5): Show p.Cys464fs	ZNF626	ENSG00000188171.17	transcript	ENST00000601440.6	protein_coding	4/4	1674/6063	1383/1587	461/528		chr19	TogoVar
ZNF681_chr19_23734195_23763891	23745033	TA TA	T T	frameshift_variant frameshift_variant	HIGH	HG01123.hp2 HG01884.hp2 HG02055.hp2 others(3): Show HG01123.hp2 HG01884.hp2 HG02055.hp2 HG02622.hp1 HG03209.hp2 NA18522.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0010 a0005c0005t0010	a0005c0005t0010g0035 a0005c0005t0010g0120 a0005c0005t0010g0170 others(2): Show a0005c0005t0010g0035 a0005c0005t0010g0120 a0005c0005t0010g0170 a0005c0005t0010g0189 a0005c0005t0010g0192	6	394	0.0152	-1	c.516 others(4): Show c.516delT	p.Tyr others(5): Show p.Tyr172fs	ZNF681	ENSG00000196172.9	transcript	ENST00000402377.3	protein_coding	4/4	658/6497	516/1938	172/645		chr19	TogoVar
ZNF718_chr4_119501_169162	127124	GAAAATTT others(6135): Show GAAAATTTTTCTTTTAGTCATATTTTCCATGCACTGTTTAGAAGTACTGG ACGTTATATACAAAGTGCCCACCAGGCTTCACTTGAGAGAAAAACCTTTC TTCTCAGGATTCCAGCCACAACCCACAATTGTATGACAAAGTGCAGCAAG GTGCTCCCCAAATCTGCAAACAAAATAGTCTCTCTATTTGGGATCTACAG TCCCTTCTAGAGCAGTTAGACTAGATTTCTACAAAAATCACTTCAGGACA GCAATCAGTTATTTCACCTCCTTCAGTGCTCCTGTCATCTTCAGATCTGA CACGGATTCAGAGATCACGGGGCCCATAAACCCAACCAGGATCATACATG TGCATTGATTAAACTTGAGAACTTCAATTCTCTCCCTCCTCCCTTTGCCC AAATGCCCGCAAATGTGCATAGCTCACCAGCCCTCCAAGACCTAAATGTG CAGTTCCAAATTCTGAATTTATTTTCTGGGATTTGAGAGAAGAAAAGAAC TTTTATTTGAGAAATACATGTTCTTTTAATGATCAGACCCAGAGACTGGT TAAAATGAGACCACAGTGATGTACTGTTCCCGTCTTTGAACTATTTGTCT TTTGAAATTGCTTGCTATTGGCACAAGTGGCTATAAATTAACCTAATAAT GCCACACTGGACACTATAATCCACACCCAATAGCTTAACAATGTATATAA CCAATCACTAACCAATGTTACTTCTGTAAATAAGAATTCCTGACAACTTT CTATCCTGCCTTCCTTTTTGCCTTTACAAATATACTTGTAATTGGAGTGT ATATTCAGGTAGCTTTATACTCCAGGATTGCAGTCTTCAAGCTTTGGCCC CAGAAAACTCTCTACTTATATTATGTTTATCCCAGTATTTCCTTTTAGGT CAAAATATTCTTAAGAATGTGTTGAAGGAGCCTCCATGAGGTGATCTCTC CTCTGGTTTTACTCTGCTTACTCTAACCCCTAAGAATGTAGAGGCACATT GATCCCACCTAGAATCTGCATACAAAAGTTGGCCTCTGCCTGGGATTCCC AACACTGGACCAGACTTTGGGTTGAAGACATACGAAAAACTCACAGAAGA CATTTTCTGCATCATGAGAGGTCAATGTAGACATCTTAAGCCCCATTTTT AGAGTGGGGCCCTTTGAGTTTTCCAGATCTTGTTCAGTGACCTGCTACAG CTGTGTGAGAGGCTTCTGATGGGAACAGAATCCTGTGGCAGAATCTTTAA GTGTAAACAAGCATCTTAGCAGTGGGAGGTAAGGCCACAAAATATCCAGA GCCTTAATGACAACCATAATCACAAGTGTACCTTCCTCCTCTATACTGTG TTATGGGAGTAGAGTACTTTTGTCCTTCTTCTTACCTCAGAGTTAGCTGA TCAGGGACAGGGGATATCACATCTGGAGCCAAGATGTGCAGGACCACCAG GACAGCGCCATTTTCTGTTTGCACCACACAAAGTCAGCCTGAGTGTCTCC TCCGTGGATCACTATGAGGGCATCATTACTCAGCATCTTTGAGTAATGAG ACATTTGAGGATGTCATGTGCAGACTGGGGTCAGTCTGACAAGGTCTAAT TCTGCTCCCATTTCAGAGGAAGATAAGTGACTCATGCAGGGTTTGTTCCT CCCCTCACAGAAAGAATCTCCTTGGTTTGTACCCAGATAAGAATTGCTCC AGTTTTCTGGTTCTTTGGTGAAAAATGAGGAATCTGGAGACTCAAACTGA TCAATAAGCTAATTGCTTCTATTTCATATGATCATTAGAAAAAGACATAA AGCAGTCATGGTCCCTACCATCAAGGAACTTGCAGTCTAGAGCACATGAA TAAATGATTGAATTCAGCATCGTGTGTTCAGTACAAAGACAGAAACTGTA TGGAGACTTAAGCTTAATTTGTGTTACTTCCCTTTTATTGTTTTGTGAGT TTTAATGCCACCATCTGATCAGCTGTTCATTGACAGAAGAGAAATTGTTG TTATTATTTGTGTTGTTTTTACCTTGCTAAGAATAAATAATTAGCTTCTA ATATAATTGGTCTAGAAAAACATAAGGGTTTTGGTTAAATTCCTTGTTAT TGTGTGTTATAATGTTATAAAATAGGGAATTAGCTAAAATAGATTAAGAT ACAGAAACTCTGGGAATCAAATTTCTCTTGGGCAGGCTTAGAAAAGACAA AACTGAAAATACTTACGGGCATAGAGAGCAGATGCCTAGGGCCCACCTTC TGTCCCAGTTCTGCCCAGATCCACCCTCTGCTGAACCTTGTCCAGGTCTT ACCCCACACTGAAATCTCTCACAGAACTGCTTAGAGGAGATCAGAGTTTG GGGTGGCTACCCCTACTGCCTCTCCAGAGCTGGTGCTCACAATTTCCTGA TACCCAAAAGCAGATAAATGAGGAAAAGCAATATACTTTTGTGCCTTAAA TTCTTTTTTATAAAATTAAAGTCAGTGTTTCTAGAGACATCCTATCCAGC AACCTGTTCCCCATCTCTGCAGTTTCAGTGGTTTTTTTCACAAGTCTCAT AATAACTACAAACACAAAAATAAAAAATTCCTCTGAATTGCACTTAGCAC TTCCTTTCTGTATCTGTCCCGTCTCTCTATATTGAGCTATTATTCTACGC ATTTAAAAAAAAAAACAATGATAAGAAAACAGAAGAACAAATAGAAATGC TGGGGCCCTGCATTTAAATCCTGGGAAGCATGGGACTACTTTTCAGGATG TTATAGTATTAACACACATAATGTGAACTTCCCAGCACACTGCTCTATGG CATACTTCTGAGCACATAGTACATGCTCTATAAAGATTGCATTGATGCAT ATACACGTTTTTCAAATGCAGACTTACTCAGACTTGCCACCATCTTCCGC CTCTGTAAACATTAAAGGGCTTGCAGAGAATGCCGTATTTCAAGATGATG ATTGGTGGTCTTGTCTTCGGATGTAAAGTATTTGTGTCGTGATAAGGGTG TTGCAGTGAGGGACTCATGCTGTGACTGCTTTTTCTAGCTGAGTGGTATA ATGGGTCTAGGGGGAGGAGTGTCAGCAATAAGAAGACTTGCAATAACAGG AGACTTGCAATAAGAAGCTAATTCATGGACCCTTTTCAAACCTGCAGAAT TTTGTTACTTACAGTGAGGCTTTGAATACCAAATAATTTATATGCATTTT GAACCTTAGAGGCAATGCTTGGCTGAGTGACTCTTAGCCCAGTCTTGCAG TAGAATTACATGGACAGTCTGAAGAGAAACCATAACGTGTGCCCTCCCCA CAGATCCTGTCTGTTTTTCTGGGTGGAAAAATTCCTGTTTTTGGTTAGGC GCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAAGCCGAGGCAGGCG GATCACGAGGTCAGAAGATGGAGACCATCCTGGCCAACATCGTGAAACCC TGTCTCTAATAAACAAAAATTAGCCAGGCATGGTGGCGGGTGCCTGTAAT CCCAGCTATTCGGGAGGCTGAGGCAGGAGAATCACTTGAGCCTGGGAGGT GAAGTTTGCAGTGAGCTGAGACCGTACCACTGCACTCCAGCCTGGGCAAC AGAGCGGGACTCCGTATTAAAAAAAAAAAAAGAATTCTGTCACTTGATAA ATGTGTATTTTCAGGAACTCTTAACATTCAAGGATGTGGCCATAGAATTC TCTCCAGAAGAGTGGAAATGTCTGGACACTTCCCAGCAGAATTTATATAG AGATGTGATGTTGGAGAACTACAGAAACCTGGTCTCCCTGGGTAAGGATA ACTTTAATATGTAATTCCTAATACTTTTTCAGAATTTCATTTTCTTCCTT TGTAGAATGTCTCTTGAGAGCTTCTGCTTTGCATGAATTAATTTCAGTTC CTTCACGAAAAAGTTGGGAGTTTGGTGGTATAAAAAATAAAATCTTTAGG ATGTTTCATCTTTACATAAACCTTCTTTTGAGCTAATTTGTTTCCTTCGC TCTAGGCTAGTGGTAATTCTAGAAATTAATGATATAAAATAATTGTCTTT CACATCTTAACATGCAATTTGCACTACTTATTTTTGATTCAGTAGTACTC GGTAGTGGAACTTAAAGCCCACAGATTTAAAATACTTAAATATTCTACAG ATTCTGTCGGAAAACAATTTTTGGATTAATTTTCTAGAATCTTCCCTAAT TTCTCTATTCTACTTAGCATAGTACTAGGTTGGTAATTGGAGTATCCCCA GCAATAGTCATGTTAATTTTTTTTTTAATAAAACAGGTGTTAGTATCTCT AACCCAGACCTGGTCACCAGTCTGGAGCAAAGAAAAGAGCCCTACAATTT GAAGATACATGAAACAGCAGCCAGACCCCCAGGTAGGTGAGAGTGAATGG AGGAGAGGACACAGACAAGGAGGCCAAAAGTCAAGAAGGAAGCCAGGCCT TCAAATGTTGTTTGAGAGGCTGAGCACCGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGATCAGGAGTTCAAG ACCAGCCTAGCCAACATAGTGAAACCCCGTCTCTACTAAAAATACAAAAA TTAGCCGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACTTGGGAGGCT GAGGCAGAGAGAATTGCTTAAAAACACAGGAGGCGGCCGAGGCGGGTGGA TCATGAGGTCAGGAGATCGAGACCATCCTATCTAACATGGTGAAACTCCA TCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGT AGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGA GTCGGAGCTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGAGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAACCCAGGAGGCAGAGG TTGCGGTCGGCTGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGATTCAGTCTCAAAAAAAAAAAAAAAAACCCAGGAGGCAGAGGTTGTG ATTGCGCCACTGCACTCCCTCCTGGGCAATATAGAGCTAGACTCTGTCTC AAATAAATAAATAAATGTAGTTTGGGAAGCTCTGTGACAAAGAAAATAAT TTCTGAAAAGGCTGCATTTTTTCTCTTAGGGTCATCTTCTCTCCCATGCT CTTAAATCTAAGAATTCTGTTTTTCCTTTAGTGATCTCCCTTCAAGTTTA CAGGGAGTGCCAGTGTCCACTTTATCACTTACAAAGGGCTACATGATCTG ACTGCTGTTCATTGCTTTTGGGGACCTGGGAACATTTGTATTATTGAGGA GCTCTATGTTAAAGTTTTTCTTTTTTTCAAATATTGTCTTTGCATCATGT CTAAAATGTGTACGGTGACTAGTGGATATATTGGGATTTGGTTCAGAGAT CCCAGGAACACCAGAGACAGTTGTTGCAGGTATTGCATCTTTTCTGCTTA GTGATTTTTAATCCTATAGAGGTTGCAAATGTAATTCTACAAAAATTCTT ACTCAGCAATTTTATCAGAACAATAAGTGTTTTCCTAAATATGAAAAAAT GTAATTTTATTTTACTTCAAAATGTTATTGTTTTAATATAAACTGAGATT TGTAATTTAAACTCTATTTTTGCAAGTTTTCAAATTATTTAAAGCATGGG TTTCCAACCTTTTGGCTTCCTTGGACCACATTGGAGGAAAAATTGTCTTG GCCACACATAAAATACAGTAACGTGGCCGGACACGGTGGCTCACACCTGT AATCCCAGCACTTTGGGAGACCGAGGGGGCAGATCATGAGGTCAGGAGTT AGAGACCAGCCTGGCAAGCATGGTGAAACCCCATCTCTACTAAAAATACA AAAATTAGCCTGGCATGGTTGTGCGCACCTGTAATCCCAGCTACTTGGGA GGCTGAGGTAGGAGAATTGCTTGACCCCAGGAGGTGGAGTTTGCAGTGAG CTGAGATCGTGCCACAGGCACTCCAGCCTGGGCAACACAGCAAGACTCCA TCTTAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT ATATATGGTAACACTAATAATAGCTGATGAGTTTAAAAAAAAA	G G	exon_loss_variant exon_loss_variant	HIGH	HG00099.hp1 HG00558.hp1 HG00558.hp2 others(159): Show HG00099.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18979.hp2 NA18980.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp2 NA19012.hp2 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19075.hp1 NA19077.hp2 NA19080.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0010 others(3): Show a0001c0001 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0007 a0001c0013t0013	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(117): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0002g0209 a0001c0001t0007g0004 a0001c0001t0007g0041 a0001c0001t0007g0046 a0001c0001t0007g0056 a0001c0001t0007g0099 a0001c0001t0013g0052 a0001c0001t0013g0096 a0001c0001t0015g0006 a0001c0001t0017g0002 a0001c0001t0017g0075 a0001c0001t0019g0018 a0001c0001t0023g0016 a0001c0001t0024g0012 a0001c0001t0026g0016 a0001c0009t0001g0018 a0001c0010t0001g0091 a0001c0011t0001g0089 a0001c0012t0007g0051 a0001c0013t0013g0053	162	330	0.4909	-6142	c.3+2 others(15): Show c.3+2454_226+1763del		ZNF718	ENSG00000250312.8	transcript	ENST00000510175.6	protein_coding	2/4				INFO_REALIGN_3_PRIME	chr4	TogoVar
ZNF865_chr19_55600647_55622269	55614540	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00544.hp2 HG00738.hp2 HG01123.hp1 others(16): Show HG00544.hp2 HG00738.hp2 HG01123.hp1 HG01169.hp2 HG01496.hp2 HG01978.hp2 HG02300.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp2 NA18952.hp1 NA18955.hp1 NA18960.hp1 NA18964.hp1 NA18998.hp1 NA18998.hp2 NA19082.hp2 NA19090.hp2	a0002 a0005 a0012 a0002 a0005 a0012	a0002c0005 a0002c0009 a0002c0018 others(2): Show a0002c0005 a0002c0009 a0002c0018 a0005c0011 a0012c0016	a0002c0005t0001 a0002c0005t0003 a0002c0009t0001 others(5): Show a0002c0005t0001 a0002c0005t0003 a0002c0009t0001 a0002c0009t0002 a0002c0018t0001 a0005c0011t0001 a0005c0011t0002 a0012c0016t0001	a0002c0005t0001g0001 a0002c0005t0001g0016 a0002c0005t0001g0017 others(10): Show a0002c0005t0001g0001 a0002c0005t0001g0016 a0002c0005t0001g0017 a0002c0005t0001g0019 a0002c0005t0001g0103 a0002c0005t0003g0134 a0002c0009t0001g0008 a0002c0009t0001g0153 a0002c0009t0002g0004 a0002c0018t0001g0155 a0005c0011t0001g0005 a0005c0011t0002g0005 a0012c0016t0001g0003	19	430	0.0442	1	c.927 others(4): Show c.927dupC	p.Ser others(5): Show p.Ser310fs	ZNF865	ENSG00000261221.5	transcript	ENST00000568956.2	protein_coding	2/2	1040/3763	928/3180	310/1059	INFO_REALIGN_3_PRIME	chr19	TogoVar

Search by Variant

Search

Search Results (Total: 226 hits)