Joint Open Genome and Omics Platform (JoGo)

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Chr

Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
OR7C1_chr19_14793515_14840185	14809805	C C	T T	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02280.hp2 HG02572.hp1 HG02622.hp2 others(4): Show HG02280.hp2 HG02572.hp1 HG02622.hp2 HG02886.hp2 HG03195.hp2 NA18906.hp2 NA20300.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0007 a0005c0008t0007	a0005c0008t0007g0016 a0005c0008t0007g0017 a0005c0008t0007g0118 others(2): Show a0005c0008t0007g0016 a0005c0008t0007g0017 a0005c0008t0007g0118 a0005c0008t0007g0119 a0005c0008t0007g0263	7	406	0.0172	0	c.-43 others(6): Show c.-435+1G>A		OR7C1	ENSG00000127530.4	transcript	ENST00000641666.2	protein_coding	2/4					chr19	TogoVar
OR7G3_chr19_9121012_9131950	9126022	G G	GATGGT GATGGT	frameshift_variant frameshift_variant	HIGH	HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01099.hp2 HG01109.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19059.hp1 NA19064.hp1 NA19074.hp2 NA19075.hp1 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0005 a0007	a0002c0002 a0002c0014 a0003c0003 others(3): Show a0002c0002 a0002c0014 a0003c0003 a0004c0004 a0005c0006 a0007c0007	a0002c0002t0001 a0002c0014t0001 a0003c0003t0001 others(3): Show a0002c0002t0001 a0002c0014t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001 a0007c0007t0001	a0002c0002t0001g0000 a0002c0014t0001g0000 a0003c0003t0001g0000 others(3): Show a0002c0002t0001g0000 a0002c0014t0001g0000 a0003c0003t0001g0000 a0004c0004t0001g0000 a0005c0006t0001g0000 a0007c0007t0001g0000	177	400	0.4425	5	c.924 others(12): Show c.924_928dupACCAT	p.Ser others(5): Show p.Ser310fs	OR7G3	ENSG00000170920.2	transcript	ENST00000305444.2	protein_coding	1/1	928/939	928/939	310/312		chr19	TogoVar
OR8K1_chr11_56341039_56351998	56346040	T T	C C	start_lost start_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(347): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.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 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18976.hp1 NA18976.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0004t0001g0000 others(8): Show a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0004t0001g0000 a0001c0005t0001g0000 a0001c0006t0001g0000 a0001c0007t0001g0000 a0001c0008t0001g0000 a0001c0009t0001g0000 a0001c0010t0001g0000 a0001c0011t0001g0000 a0001c0012t0001g0000	350	436	0.8028	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	OR8K1	ENSG00000150261.5	transcript	ENST00000279783.5	protein_coding	1/1	2/960	2/960	1/319		chr11	TogoVar
OR8U1_chr11_56370624_56381553	56376094	A A	ATTTCACA others(7598): Show ATTTCACACCATCCTCACCTTCCGCCTCTCCTATTGCCACTCCAACATTG TCAACCATTTCTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCA GACACTCGCTTCAAACAGCTATGGATTTTGGCCTGTGCTGGTATCACATT CATCTGCTCTGTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTG CCATCCTGAGGATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACC TGTAGCTCTCACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTT TATGTACTTACAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGG CCTCTGTCTTCTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTAC AGTCTCAGGAACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAA TAGAAACCATGCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGA CAAAAATGGGCATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAAC TATTGGAATACCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTG AAAAAATTATTCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATT TCATATGTAGAAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAA TGTATTTTTAAAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCT GCCAGGAATAGAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGT AAGAGTTCTTTAACAATATGTTAAGACTATTTTATAGTATATTTAAAATT AAATTTAATAATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGA GGTAATTTTTCTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTG ATTTTCACAATGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGG GTGGAGGCCAGGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCC TCACTCAAAAAATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGA GAGCCGGTGTTAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATT CATTAAGATCAAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTA TGGTTTTCTCTTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATC CCAAGTTAAATTATGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAA ATGTTTTGGGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAAT TTACTGATTTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGT GATAGCATTTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACT TCATCTCTCTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTA CTTTCATTATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAG CTAATAGTTGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTT TTAATTAGAATATTAAGTCCATTCATTTTTAACACAATTACTGATATGGC TGAATTTATGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTT TTATTTCCTTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAG AAATTTAATTTCTGATGTGTTAAATATGTACACACACAAACAGACACACA GACATGCATTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACT TATCACCATATACTTCAGATTAATACTAGCATAGCACTATGTAAATACAT ACATACATACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTAT TATCATAATTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGA AATATACAATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGT AGACTATATATACACAGACATATGACTATATCAATAATATGATGATACAT CAATAAATAAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCG TGTATTTCTGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGA AAGACATTCTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTA TCTTAATCTCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATAT AATTTGACTGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAG TTTGGACATGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCAT GTGTTAAACTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGATTT TTCGCTGTCTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTT CTTGGTGTTAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGT TAATGCTTTTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGT ATTTTCCCCTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTT ACTGGTACACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCC CAGAAGTCGCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTG TTTTCTAGAATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTC TGTCTTCAGCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCA TTTCAGGTATTGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAA AATTGCTATAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCA ATATATTAGAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGT ACCTTGATAAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATT ATTTTTTCAGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACA TGTGCACAACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTT TTATCTCCAAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTT TTTTCCATTTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTT GTATCAAATGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGATGGT GTAAACTCAATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACAT ATTTGGGGAATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACT ATATTTGGGGAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCT TCCCTACCACCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTT TGCTTTTTCAGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACA AAGAAATAACAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGT GACAGAAATTTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAA GATACTTTCTGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGG CAGCCACCATCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGA GGAGACAGAGAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTT TTGCGTCTCTTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCT AATCTTAATTTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGG AGTTAGAGCTTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGC AGATGCATTGTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTAT GGCCACAGATTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAA GGAACTATAAAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGAC ACAGATGTTTCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCAT GTCTTAAATTATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTT GGAAGATATGTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTA AAAATAAATCTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTC AAATAAATAAATAAATAAATAACAAGAACAACAATATGAACAAGTAAAAT ATGAATAAATAAATAGCACTATTAATAATAAAATTATCAATCAATAAATA GCATTCCAAAAATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGAG CTATAGATCTTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCT AGCCTGCTTTGGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTT ACTTGCATCATTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGT GACTGTCAAAACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGA AATAGGAACACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATT AAGGTCAAGATAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAAC TTTATAACATTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTAT AATTTTATTTCTGTTATATATGTATGCGTTATATAAAATATATTTCTTAT TGGTATGAGATGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTA GGCTGCTTGGAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATT AAAACTGTCCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAAC CAAGTCATCAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTA ATTGTGAACCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATT ATTAATTTCCCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAA TTAAAATTTCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAA ATATATGAAAACAGATGTTTGCCATATATGTGACATAGGTAAATGAATTA TGTATACAATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATG AAAACTAGAAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGC TCTCCATTCGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATA TAAAGCCTGGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAAT AAGGTTTTTAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGAT GTTGCTGGAATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCA TGTATAATATTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGAT AAAGTGGTACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAG TGCAGCCTTACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAA TTGTTGCTTAATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCA AAAAGTCTTTAAAAACTTTGATGATGCACATATTTCATGTAACAATAAGC AGCAGCAGCAGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAA AGTGGTAGAAACATACATGCACACATACTCAAAAATATTCATTTTTGATT TTCATGTCCATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCC CTGCTGTTTCCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTA ATTTATTATTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACT TTTCTCTGTATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTAT ACCTATCTACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTT GTATTTATTTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTAC CTTGACCACCCATACATACTATGTATGTAGAAGTCAGCATAATCACTTTT AAAATTCATTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATA CGTGTAACTTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTAT TTTCTAATTTAAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTC TTTTGATAGTAACAATGATTATTTCAGATAGAAAATAACACCTTTTATAG ATTAGGAAGCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATG TAACTAGAGAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGA GTTCTTTCCACTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTT TTCAATAGTTACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTA AGTTTGTCAAAATTCACTATATTTACTTCCTCATAGCCATAATGGCAATT TACATTCACTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGA ATGAAATCATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATC TTAGTGAAGTAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGC GGGAGCTAAATAATATGTACACATGGACATAGTATGTAAAGTACCTTTAT AAATATAATAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACC TCTTTTACCTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCT AATAATTTTAATACTAAATTAGCACTTACATATTAACAATAAAATTGATT TTAAGGATATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAA ACTCTCCTCTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAAT TGCACCCAGGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGA GTTGAAGATGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAG TAGTAGGCAATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTC AACACACCAATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTG TTACTCTTCTGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAAC AAAATAGTATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTG GCCTTCATGACGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCG ATATGTGGCCATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAG GAATCTGCATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTT GCACTG	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG00639.hp1 HG00738.hp2 HG00741.hp1 others(18): Show HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01106.hp1 HG01243.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG02055.hp1 HG02258.hp2 HG02451.hp2 HG02647.hp1 HG02723.hp1 HG02886.hp1 HG02970.hp1 HG03225.hp1 HG03516.hp1 HG03710.hp2 NA19240.hp2 NA20752.hp1 NA21309.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0000 a0002c0005t0001g0000	21	63	0.3333	7605	c.590 others(7612): Show c.590_591insATGGATTTTGGCCTGTGCTGGTATCACATTCATCTGCT CTGTTCTGATTGTCTTTGTCTCCTACATGTTCATTATTTTTGCCATCCTG AGGATGAGCTCAGCTGAAGGAAGACGCAAAGCCTTCTCCACCTGTAGCTC TCACATGCTGGCAGTCACCATATTCTATGGCACCCTGATCTTTATGTACT TACAACCAAGCTCAAGCCATTCTCTTGATGCAGACAAGATGGCCTCTGTC TTCTACACGGTGATTATTCCCATGTTGAATCCCTTGATTTACAGTCTCAG GAACAAAGATGTAAAAGATGCCCTGAAGAAAGTCATCATCAATAGAAACC ATGCTTTTATTTTTCTGAAACTGAGAAAATGAGTTCAATAGACAAAAATG GGCATTCCTTCATAACCAGGTTTTCCCCCACATTAATAAAACTATTGGAA TACCTTGCTCTTAATTGGTAAGCAATAAAGATCTGTTTACTGAAAAAATT ATTCTTTGCATTTTTGTAATTTTTTTGACTTAAAACCATATTTCATATGT AGAAAGTACCATAAGAATTTACATCATTTCTCACAGGAAAAATGTATTTT TAAAATGTATTATCTCATCTGATAGTTATACAATTAGGTGCTGCCAGGAA TAGAAAAAATGAAAGCACTCTGAATGCCCAGTTCAGGGTTGTAAGAGTTC TTTAACAATATGTTAAGACTATTTTATAGTATATTTAAAATTAAATTTAA TAATATTTAATTAAATTACCTGCAACAGTGTCTCTACATAGAGGTAATTT TTCTCCCAGGGGGACATTTGTCAATACTTAGGCTTATTATTGATTTTCAC AATGACAGGATACTGTGAAGGAATGCTATTGCTATCTAGAGGGTGGAGGC CAGGTGTGCTGCAAAATATTTTACAATTCACAACATGGCCCCTCACTCAA AAAATTATACATCCCCAAATGATAATAGTGCTGAAGTTGAGAGAGCCGGT GTTAAATAATTTTTTTTTTCCTCAAGAGTCATTCTATAGATTCATTAAGA TCAAGCCGGTTGATAGTGTTGCTCAAGCCTTTTTTGGCTTTATGGTTTTC TCTTTATTTGCTCTATCAATTATTAAGACTGATGTTAAAATCCCAAGTTA AATTATGTATTTACATTTATTTTCTGTCAGTTTTAATTTTAAATGTTTTG GGGCTCCTTTGTCATTTGTGCATGAATTTCTAGTTACTTAATTTACTGAT TTTTTTCCTTATTAGCATTATTAAATGCTCTTCCTTTTTTGTGATAGCAT TTAATGACTAAAAGTCTATATTTTTCTGACAATATAACCACTTCATCTCT CTTGCGGTTATTATAAGCATGGAAGAGTATTCCATCATTTTACTTTCATT ATATTTGTGATTTTAAGTGTACATTTTGTCTCTTGTAAACAGCTAATAGT TGGATTTTTGTCTTTGTAATTAACTCTGAATAGCTCTCCCTTTTAATTAG AATATTAAGTCCATTCATTTTTAACACAATTACTGATATGGCTGAATTTA TGTCTTTCATGTTGTTAATATTCTAAATAGTTCAGTTTTTTTTTATTTCC TTGTTTGAGTTCTAACGCCTGTGTTAAAAAATTTTAAGTTAGAAATTTAA TTTCTGATGTGTTAAATATGTACACACACAAACAGACACACAGACATGCA TTAGTAATGGTTGCTCTAAGGATTTCAATATTGATTTTAACTTATCACCA TATACTTCAGATTAATACTAGCATAGCACTATGTAAATACATACATACAT ACACACATATGCAGTGTCTACTTATAAACCTCAAGACTGTATTATCATAA TTGAATATGTATGCAATTTTATGTCATTAGGAGGACACAAGAAATATACA ATTGTATGTCATTTATATAAATTAAGAAGAGAATACTTATGTAGACTATA TATACACAGACATATGACTATATCAATAATATGATGATACATCAATAAAT AAAAAAAATGATTGACATATCTGCCATTTCCAGTGTGCTTCGTGTATTTC TGTGATTGAAATTATCATACAGAATAATTTCTTATCCTCTGAAAGACATT CTTATGTACTTATTATAAGGCAGATTTGCTAGCAATGAATTATCTTAATC TCATTTACCCAGGTCTTTAAGTCACCTTTATTTCTGAAATATAATTTGAC TGGATATAGTATTCCCTGTAGACAACAGTTTTCTTATAGCAGTTTGGACA TGTCATCCCACCACATTCCATATTTTCCTTGTAAGAAGTCATGTGTTAAA CTTGTGATTTTCTATAGAATTAATCAACAACTTTCAAGATTTTTCGCTGT CTTTGGCACTCAATACTTTGACTTTCATTAGCCTAAAGATTTCTTGGTGT TAATCTAACTTAAGTTTGGTTGAGTCCCTTAGATCCACATGTTAATGCTT TTCTTTCTCAAATTGGAGAAGTTTTCAGTAATTTATTCAAGTATTTTCCC CTTTATCTCCCTTCCTTCCTTTTGGGACTCCCACTTATTTTTACTGGTAC ACTTGATATGGCACACTTTATTGGTACCACTTTCTGGTGCCCCAGAAGTC GCCAGGATTTTCTTCATTTTTCTGTAATATTCTTCTTCTCTGTTTTCTAG AATAGACAAGTTTTATTTACCTATTTTCAATTTTACCAATTCTGTCTTCA GCTTTATCACTATTCTTTTTGGTCTAACCAATACATTTTTCATTTCAGGT ATTGTATTTTTATCTCCAAATATTCTTTTTTTTCCAAGAAAAAATTGCTA TAAGGATTTATTGGAGAAATTGATGAAATTTGAATATAATCAATATATTA GAAAATAATGTTGCACAAATGTTTTCTAGTTTTGATAATTGTACCTTGAT AAAGTGACATGATATGTGCAATTTATTCTTTTTAAAATTATTATTTTTTC AGTATTCCTCTTTTATTATTATACTTTAAGTTCTAGGGTACATGTGCACA ACGTGCAGGTTTGATACATATGTATACATGTGCCATGTAGTTTTATCTCC AAATACTCTATCTGGTTCTTTAAAAAATATATATTAAAATTTTTTTCCAT TTGGTAAGATATTGGTAAGCTAATGACTGGATCCCAGGGTTTGTATCAAA TGTCTTATTGGCCTTCTCATTTACGTATTTTTAGCTGATGGTGTAAACTC AATTGTGATTTTCACTTCCTATTTGAAATCTATAAAAGACATATTTGGGG AATCTTGTCCATCTTCATCCTTAGATAGCAGAAAAATACACTATATTTGG GGAAAAAAAAGTAGTTTTATAATTGCTTTCCACCCCTCCTCTTCCCTACC ACCTTCCCCCAACAAAGCCTTTCGCACTGTAGAGGATTATTTTGCTTTTT CAGAGATGCTCTCCTATTCAACTCAGGCTACAGTAAAAAACAAAGAAATA ACAACAACAAAAACCTCAAAACTTAGACTGGGTGGCCTAAGTGACAGAAA TTTATTTTCTGACAGTTCTGGAGACAAGAAGTCCAAGATCAAGATACTTT CTGATTCAGCTTCTAGTTAGGTCTCTCTTCCTGGCTTGTAGGCAGCCACC ATCTTCTGTCTGCTCACATGACCTCTTGTTTGTGAGCATAGAGGAGACAG AGAAAAAAAAAAAAAAGAGGGAGAGTGAGTGAGCATACACTTTTGCGTCT CTTCTTATAAGGGCACTAACCCCCTCCCTTATAACCTTATCTAATCTTAA TTTTCTTCCAAAGTTGTTGTCTCTAAATATCATCACACTGGGAGTTAGAG CTTCAATATATGAATTTTGAGAGATACAATTCAGTTCCTAGCAGATGCAT TGTTCTGTAATAAGTATTACAATAATGTTCTTCTCTTGCTATGGCCACAG ATTGGCTAAAAAAATAATCTCAAAGGCTATTCTATAGACCAAGGAACTAT AAAAATTAAGTAATAACAGATAGCAACAGCCTTAAAAAAGACACAGATGT TTCATGAGCATTTCAAAGAGTAAGCCAAAGAGAGAGTACCATGTCTTAAA TTATTCTGTAATAGATTATTGGGAGTTCCAAATTAGTTCTTTGGAAGATA TGTTGTAAAAATTTTTGCAAGGTAATTTTTATTTTTCTTTTAAAAATAAA TCTAAACTTTATCACTAAGAAACAACAAAAGGAAAAGAATTCAAATAAAT AAATAAATAAATAACAAGAACAACAATATGAACAAGTAAAATATGAATAA ATAAATAGCACTATTAATAATAAAATTATCAATCAATAAATAGCATTCCA AAAATAAGAACATTAGAGCAATAATGTCATGCTAAGTCAGAGCTATAGAT CTTTGGTTCCTCAAAGCTTGAGAATGATGTTAATTTATCTCTAGCCTGCT TTGGAATCCCTTAGGTCATTAACTATTTTTTCTGATAATTTTACTTGCAT CATTCTCCTAAATAAGATCCTATGGGACAGAGGGGACAGAGTGACTGTCA AAACCCTATATTCTGTTGCTGTCCAAACCCACTTGGAGAGGAAATAGGAA CACCTTTTACCCAAGTAAGTTCAAATAATATGTTTCAAAATTAAGGTCAA GATAAGCATTTTAAAAATAAAGTAGCATAGAATATAATGAACTTTATAAC ATTTTAGATGGCATTTTCTGAAATAAGGCTAATGTTTTCTATAATTTTAT TTCTGTTATATATGTATGCGTTATATAAAATATATTTCTTATTGGTATGA GATGAAAAAGAAAGTTTGGGAATACCAAGATAAAATTTATTAGGCTGCTT GGAAAAGTTGGACACTTAATTGACTAGATTGCAATTTACATTAAAACTGT CCTTCCTATTTTTGCCCATATAAAAAGTGAGCACATCAAAACCAAGTCAT CAATATGTCATCTAATGTGTTTGTTATAAGTAAAGAACATTAATTGTGAA CCAGTGAAATAAATATTGAAAGGTTCTTGCAAAAATTTAATTATTAATTT CCCATTACCAAGCATCTAGAAGGGGCTACATTAAGACATTAATTAAAATT TCATGGCGTCCACCCATGGACTCAGCAGTCTATCAAAATAAAATATATGA AAACAGATGTTTGCCATATATGTGACATAGGTAAATGAATTATGTATACA ATGTTTCTAGAACACAAAGATGAAAGATGGTAACACAGCATGAAAACTAG AAATCAGGGAAGCCTTGAAGAATAAATAGTTTTCACTGCAGCTCTCCATT CGCCATTCATCTGGTAGAGGTAAGTGTAAGCAAAAGCACATATAAAGCCT GGGTAACGTGTAAGGGCATGTTGTATTTGAGGACTGTAAAATAAGGTTTT TAATTGATCACTGGGTGTTGTTTGAGGAAGAAGGGAAGAGATGTTGCTGG AATTTTGATGGAAAACATCATGGACTATATTGTAAAAGGTCATGTATAAT ATTTTTTCAAATATAATGTACATTCTACCTTTGAGATGAGATAAAGTGGT ACTTCAAGGTGAGATAATAAATGTCTTATAGTTGTCAAACAGTGCAGCCT TACCTGAAATCTCCAGACATGAAAACTAAATTTCCTATCAAATTGTTGCT TAATCATCTCAAAACAAAATTTATGTATTTGTATGAACACCAAAAAGTCT TTAAAAACTTTGATGATGCACATATTTCATGTAACAATAAGCAGCAGCAG CAGTAATAATAAATATTATCTGTTGTTATCTTCTTCATAGAAAGTGGTAG AAACATACATGCACACATACTCAAAAATATTCATTTTTGATTTTCATGTC CATGATTTATAAAGAACATCTAAATTTTCCTGATATATTCCCCTGCTGTT TCCTGAAATAATAAAAATATATCAATTAGGTTTCTTTTGTTAATTTATTA TTTGCTGAGATTATATTTCAGGAACTAAAATTTTAAGACACTTTTCTCTG TATTCAACTTAAAAGGTACATTACGTGTAAAAGTTTACCTATACCTATCT ACTTGCATTACTTAAGGATTTTCCATGTGTTCTTACTTTTTTGTATTTAT TTCCTCAGACTTTTCTATGTTCAAGGCCTAGAGGTATATTACCTTGACCA CCCATACATACTATGTATGTAGAAGTCAGCATAATCACTTTTAAAATTCA TTGACAGCTGGGTGGTAAAGTGATTCTGCTGACTTATACATACGTGTAAC TTTTAATACATCAGGGAAGCAAGTTTTATGGTTTAATATTATTTTCTAAT TTAAAATATATTTATACCTGTTATGTGCAGGAGATAACTTTCTTTTGATA GTAACAATGATTATTTCAGATAGAAAATAACACCTTTTATAGATTAGGAA GCTTAAAGAACAAACTGAATTTTTGATGTGCCAAAGTTTATGTAACTAGA GAATGATAGAAATAAATTCCAGGTCTCCCAGTTTTATCTAGAGTTCTTTC CACTGTATCCTGCTTGACTTAAATACCTACAAAATGCCATTTTTCAATAG TTACCTGCCATTAAAATGCAACTGTTTATCACAAAAATGCTAAGTTTGTC AAAATTCACTATATTTACTTCCTCATAGCCATAATGGCAATTTACATTCA CTTTTTAAGGGTAATTGAATACTATTTGGCCACAAAAAAAGAATGAAATC ATGTCTTTTGCAGCAACATGGATGGAAATGGAGGCCATTATCTTAGTGAA GTAACTCAGAAAGTAAAACACCACATGTTCTCACTTATAAGCGGGAGCTA AATAATATGTACACATGGACATAGTATGTAAAGTACCTTTATAAATATAA TAAATTTATGCAGAGAGAAATATGTGTTCCCACAAAATAACCTCTTTTAC CTTTCATCCCATCCCATCCCATCCCCAGACCTCAAGTGAGCTAATAATTT TAATACTAAATTAGCACTTACATATTAACAATAAAATTGATTTTAAGGAT ATTAAGGTATTAAAAAATTATACAAATGTTAAGCTTGATTAAACTCTCCT CTTTTTATCCAGACAACCTGAAGAGGTATGACTCAGATCAATTGCACCCA GGTGACAGAGTTTATTCTTGTGGGCCTCACAGATCGTCAGGAGTTGAAGA TGCCCCTCTTTGTGCTATTCTTATCTATCTATCTTTTCACAGTAGTAGGC AATCTGGGTTTGATCCTACTCATTAGAACAGATGAAAAACTCAACACACC AATGTACTTCTTTCTTAGCAACCTAGCTTTTGTGGATTTCTGTTACTCTT CTGTCATTACACCCAAAATGCTTGGGAATTTCTTATATAAACAAAATAGT ATTTCGTTCAATGCATGTGCTGCTCAGTTAGGCTGTTTCCTGGCCTTCAT GACGGCTGAGTGCTTGCTACTGGCTTCCATGGCCTATGACCGATATGTGG CCATTTGTAACCCTCTGATGTATATGGTGGTAATGTCCCCAGGAATCTGC ATTCAGCTTGTGGCTGCTCCCCATAGCTATAGCATCTTGGTTGCACTGTT TCACACCATCCTCACCTTCCGCCTCTCCTATTGCCACTCCAACATTGTCA ACCATTTCTATTGTGATGACATGCCTCTCCTCAGGCTAACTTGCTCAGAC ACTCGCTTCAAACAGCT	p.Leu others(7618): Show p.Leu197_Trp198insTrpIleLeuAlaCysAlaGlyIleThrPheIl eCysSerValLeuIleValPheValSerTyrMetPheIleIlePheAlaI leLeuArgMetSerSerAlaGluGlyArgArgLysAlaPheSerThrCys SerSerHisMetLeuAlaValThrIlePheTyrGlyThrLeuIlePheMe tTyrLeuGlnProSerSerSerHisSerLeuAspAlaAspLysMetAlaS erValPheTyrThrValIleIleProMetLeuAsnProLeuIleTyrSer LeuArgAsnLysAspValLysAspAlaLeuLysLysValIleIleAsnAr gAsnHisAlaPheIlePheLeuLysLeuArgLysTerValGlnTerThrL ysMetGlyIleProSerTerProGlyPheProProHisTerTerAsnTyr TrpAsnThrLeuLeuLeuIleGlyLysGlnTerArgSerValTyrTerLy sAsnTyrSerLeuHisPheCysAsnPhePheAspLeuLysProTyrPheI leCysArgLysTyrHisLysAsnLeuHisHisPheSerGlnGluLysCys IlePheLysMetTyrTyrLeuIleTerTerLeuTyrAsnTerValLeuPr oGlyIleGluLysMetLysAlaLeuTerMetProSerSerGlyLeuTerG luPhePheAsnAsnMetLeuArgLeuPheTyrSerIlePheLysIleLys PheAsnAsnIleTerLeuAsnTyrLeuGlnGlnCysLeuTyrIleGluVa lIlePheLeuProGlyGlyHisLeuSerIleLeuArgLeuIleIleAspP heHisAsnAspArgIleLeuTerArgAsnAlaIleAlaIleTerArgVal GluAlaArgCysAlaAlaLysTyrPheThrIleHisAsnMetAlaProHi sSerLysAsnTyrThrSerProAsnAspAsnSerAlaGluValGluArgA laGlyValLysTerPhePhePheSerSerArgValIleLeuTerIleHis TerAspGlnAlaGlyTerTerCysCysSerSerLeuPheTrpLeuTyrGl yPheLeuPheIleCysSerIleAsnTyrTerAspTerCysTerAsnProL ysLeuAsnTyrValPheThrPheIlePheCysGlnPheTerPheTerMet PheTrpGlySerPheValIleCysAlaTerIleSerSerTyrLeuIleTy rTerPhePheSerLeuLeuAlaLeuLeuAsnAlaLeuProPheLeuTerT erHisLeuMetThrLysSerLeuTyrPheSerAspAsnIleThrThrSer SerLeuLeuArgLeuLeuTerAlaTrpLysSerIleProSerPheTyrPh eHisTyrIleCysAspPheLysCysThrPheCysLeuLeuTerThrAlaA snSerTrpIlePheValPheValIleAsnSerGluTerLeuSerLeuLeu IleArgIleLeuSerProPheIlePheAsnThrIleThrAspMetAlaGl uPheMetSerPheMetLeuLeuIlePheTerIleValGlnPhePhePheI leSerLeuPheGluPheTerArgLeuCysTerLysIleLeuSerTerLys PheAsnPheTerCysValLysTyrValHisThrGlnThrAspThrGlnTh rCysIleSerAsnGlyCysSerLysAspPheAsnIleAspPheAsnLeuS erProTyrThrSerAspTerTyrTerHisSerThrMetTerIleHisThr TyrIleHisThrTyrAlaValSerThrTyrLysProGlnAspCysIleIl eIleIleGluTyrValCysAsnPheMetSerLeuGlyGlyHisLysLysT yrThrIleValCysHisLeuTyrLysLeuArgArgGluTyrLeuCysArg LeuTyrIleHisArgHisMetThrIleSerIleIleTerTerTyrIleAs nLysTerLysLysTerLeuThrTyrLeuProPheProValCysPheValT yrPheCysAspTerAsnTyrHisThrGluTerPheLeuIleLeuTerLys ThrPheLeuCysThrTyrTyrLysAlaAspLeuLeuAlaMetAsnTyrLe uAsnLeuIleTyrProGlyLeuTerValThrPheIleSerGluIleTerP heAspTrpIleTerTyrSerLeuTerThrThrValPheLeuTerGlnPhe GlyHisValIleProProHisSerIlePheSerLeuTerGluValMetCy sTerThrCysAspPheLeuTerAsnTerSerThrThrPheLysIlePheA rgCysLeuTrpHisSerIleLeuTerLeuSerLeuAlaTerArgPheLeu GlyValAsnLeuThrTerValTrpLeuSerProLeuAspProHisValAs nAlaPheLeuSerGlnIleGlyGluValPheSerAsnLeuPheLysTyrP heProLeuTyrLeuProSerPheLeuLeuGlyLeuProLeuIlePheThr GlyThrLeuAspMetAlaHisPheIleGlyThrThrPheTrpCysProAr gSerArgGlnAspPheLeuHisPheSerValIlePhePhePheSerValP heTerAsnArgGlnValLeuPheThrTyrPheGlnPheTyrGlnPheCys LeuGlnLeuTyrHisTyrSerPheTrpSerAsnGlnTyrIlePheHisPh eArgTyrCysIlePheIleSerLysTyrSerPhePheSerLysLysLysL euLeuTerGlyPheIleGlyGluIleAspGluIleTerIleTerSerIle TyrTerLysIleMetLeuHisLysCysPheLeuValLeuIleIleValPr oTerTerSerAspMetIleCysAlaIleTyrSerPheTerAsnTyrTyrP hePheSerIleProLeuLeuLeuLeuTyrPheLysPheTerGlyThrCys AlaGlnArgAlaGlyLeuIleHisMetTyrThrCysAlaMetTerPheTy rLeuGlnIleLeuTyrLeuValLeuTerLysIleTyrIleLysIlePheP heHisLeuValArgTyrTrpTerAlaAsnAspTrpIleProGlyPheVal SerAsnValLeuLeuAlaPheSerPheThrTyrPheTerLeuMetValTe rThrGlnLeuTerPheSerLeuProIleTerAsnLeuTerLysThrTyrL euGlyAsnLeuValHisLeuHisProTerIleAlaGluLysTyrThrIle PheGlyGluLysLysValValLeuTerLeuLeuSerThrProProLeuPr oTyrHisLeuProProThrLysProPheAlaLeuTerArgIleIleLeuL euPheGlnArgCysSerProIleGlnLeuArgLeuGlnTerLysThrLys LysTerGlnGlnGlnLysProGlnAsnLeuAspTrpValAlaTerValTh rGluIleTyrPheLeuThrValLeuGluThrArgSerProArgSerArgT yrPheLeuIleGlnLeuLeuValArgSerLeuPheLeuAlaCysArgGln ProProSerSerValCysSerHisAspLeuLeuPheValSerIleGluGl uThrGluLysLysLysLysLysArgGluSerGluTerAlaTyrThrPheA laSerLeuLeuIleArgAlaLeuThrProSerLeuIleThrLeuSerAsn LeuAsnPheLeuProLysLeuLeuSerLeuAsnIleIleThrLeuGlyVa lArgAlaSerIleTyrGluPheTerGluIleGlnPheSerSerTerGlnM etHisCysSerValIleSerIleThrIleMetPhePheSerCysTyrGly HisArgLeuAlaLysLysIleIleSerLysAlaIleLeuTerThrLysGl uLeuTerLysLeuSerAsnAsnArgTerGlnGlnProTerLysArgHisA rgCysPheMetSerIleSerLysSerLysProLysArgGluTyrHisVal LeuAsnTyrSerValIleAspTyrTrpGluPheGlnIleSerSerLeuGl uAspMetLeuTerLysPheLeuGlnGlyAsnPheTyrPheSerPheLysA snLysSerLysLeuTyrHisTerGluThrThrLysGlyLysGluPheLys TerIleAsnLysTerIleThrArgThrThrIleTerThrSerLysIleTe rIleAsnLysTerHisTyrTerTerTerAsnTyrGlnSerIleAsnSerI leProLysIleArgThrLeuGluGlnTerCysHisAlaLysSerGluLeu TerIlePheGlySerSerLysLeuGluAsnAspValAsnLeuSerLeuAl aCysPheGlyIleProTerValIleAsnTyrPhePheTerTerPheTyrL euHisHisSerProLysTerAspProMetGlyGlnArgGlyGlnSerAsp CysGlnAsnProIlePheCysCysCysProAsnProLeuGlyGluGluIl eGlyThrProPheThrGlnValSerSerAsnAsnMetPheGlnAsnTerG lyGlnAspLysHisPheLysAsnLysValAlaTerAsnIleMetAsnPhe IleThrPheTerMetAlaPheSerGluIleArgLeuMetPheSerIleIl eLeuPheLeuLeuTyrMetTyrAlaLeuTyrLysIleTyrPheLeuLeuV alTerAspGluLysGluSerLeuGlyIleProArgTerAsnLeuLeuGly CysLeuGluLysLeuAspThrTerLeuThrArgLeuGlnPheThrLeuLy sLeuSerPheLeuPheLeuProIleTerLysValSerThrSerLysProS erHisGlnTyrValIleTerCysValCysTyrLysTerArgThrLeuIle ValAsnGlnTerAsnLysTyrTerLysValLeuAlaLysIleTerLeuLe uIleSerHisTyrGlnAlaSerArgArgGlyTyrIleLysThrLeuIleL ysIleSerTrpArgProProMetAspSerAlaValTyrGlnAsnLysIle TyrGluAsnArgCysLeuProTyrMetTerHisArgTerMetAsnTyrVa lTyrAsnValSerArgThrGlnArgTerLysMetValThrGlnHisGluA snTerLysSerGlyLysProTerArgIleAsnSerPheHisCysSerSer ProPheAlaIleHisLeuValGluValSerValSerLysSerThrTyrLy sAlaTrpValThrCysLysGlyMetLeuTyrLeuArgThrValLysTerG lyPheTerLeuIleThrGlyCysCysLeuArgLysLysGlyArgAspVal AlaGlyIleLeuMetGluAsnIleMetAspTyrIleValLysGlyHisVa lTerTyrPhePheLysTyrAsnValHisSerThrPheGluMetArgTerS erGlyThrSerArgTerAspAsnLysCysLeuIleValValLysGlnCys SerLeuThrTerAsnLeuGlnThrTerLysLeuAsnPheLeuSerAsnCy sCysLeuIleIleSerLysGlnAsnLeuCysIleCysMetAsnThrLysL ysSerLeuLysThrLeuMetMetHisIlePheHisValThrIleSerSer SerSerSerAsnAsnLysTyrTyrLeuLeuLeuSerSerSerTerLysVa lValGluThrTyrMetHisThrTyrSerLysIlePheIlePheAspPheH isValHisAspLeuTerArgThrSerLysPheSerTerTyrIleProLeu LeuPheProGluIleIleLysIleTyrGlnLeuGlyPhePheCysTerPh eIleIleCysTerAspTyrIleSerGlyThrLysIleLeuArgHisPheS erLeuTyrSerThrTerLysValHisTyrValTerLysPheThrTyrThr TyrLeuLeuAlaLeuLeuLysAspPheProCysValLeuThrPheLeuTy rLeuPheProGlnThrPheLeuCysSerArgProArgGlyIleLeuProT erProProIleHisThrMetTyrValGluValSerIleIleThrPheLys IleHisTerGlnLeuGlyGlyLysValIleLeuLeuThrTyrThrTyrVa lTerLeuLeuIleHisGlnGlySerLysPheTyrGlyLeuIleLeuPheS erAsnLeuLysTyrIleTyrThrCysTyrValGlnGluIleThrPhePhe TerTerTerGlnTerLeuPheGlnIleGluAsnAsnThrPheTyrArgLe uGlySerLeuLysAsnLysLeuAsnPheTerCysAlaLysValTyrValT hrArgGluTerTerLysTerIleProGlyLeuProValLeuSerArgVal LeuSerThrValSerCysLeuThrTerIleProThrLysCysHisPheSe rIleValThrCysHisTerAsnAlaThrValTyrHisLysAsnAlaLysP heValLysIleHisTyrIleTyrPheLeuIleAlaIleMetAlaIleTyr IleHisPheLeuArgValIleGluTyrTyrLeuAlaThrLysLysGluTe rAsnHisValPheCysSerAsnMetAspGlyAsnGlyGlyHisTyrLeuS erGluValThrGlnLysValLysHisHisMetPheSerLeuIleSerGly SerTerIleIleCysThrHisGlyHisSerMetTerSerThrPheIleAs nIleIleAsnLeuCysArgGluLysTyrValPheProGlnAsnAsnLeuP heTyrLeuSerSerHisProIleProSerProAspLeuLysTerAlaAsn AsnPheAsnThrLysLeuAlaLeuThrTyrTerGlnTerAsnTerPheTe rGlyTyrTerGlyIleLysLysLeuTyrLysCysTerAlaTerLeuAsnS erProLeuPheIleGlnThrThrTerArgGlyMetThrGlnIleAsnCys ThrGlnValThrGluPheIleLeuValGlyLeuThrAspArgGlnGluLe uLysMetProLeuPheValLeuPheLeuSerIleTyrLeuPheThrValV alGlyAsnLeuGlyLeuIleLeuLeuIleArgThrAspGluLysLeuAsn ThrProMetTyrPhePheLeuSerAsnLeuAlaPheValAspPheCysTy rSerSerValIleThrProLysMetLeuGlyAsnPheLeuTyrLysGlnA snSerIleSerPheAsnAlaCysAlaAlaGlnLeuGlyCysPheLeuAla PheMetThrAlaGluCysLeuLeuLeuAlaSerMetAlaTyrAspArgTy rValAlaIleCysAsnProLeuMetTyrMetValValMetSerProGlyI leCysIleGlnLeuValAlaAlaProHisSerTyrSerIleLeuValAla LeuPheHisThrIleLeuThrPheArgLeuSerTyrCysHisSerAsnIl eValAsnHisPheTyrCysAspAspMetProLeuLeuArgLeuThrCysS erAspThrArgPheLysGlnLeu	OR8U1	ENSG00000172199.1	transcript	ENST00000302270.1	protein_coding	1/1	591/930	591/930	197/309	INFO_REALIGN_3_PRIME	chr11	TogoVar
PADI6_chr1_17367196_17406699	17398662	C C	CCCCACCC others(1): Show CCCCACCCA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00323.hp1 HG00408.hp2 HG00438.hp2 others(49): Show HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00558.hp2 HG00673.hp2 HG00733.hp1 HG01069.hp1 HG01243.hp2 HG01346.hp2 HG01361.hp1 HG01943.hp2 HG01981.hp2 HG02132.hp1 HG02280.hp2 HG02293.hp1 HG02602.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG03486.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18947.hp2 NA18952.hp1 NA18956.hp2 NA18959.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18981.hp1 NA18987.hp2 NA18995.hp1 NA18995.hp2 NA19004.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19058.hp1 NA19077.hp2 NA19079.hp2 NA19087.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0014 a0001c0015 a0001c0017 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 others(9): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0003t0003 a0001c0003t0004 a0001c0013t0003 a0001c0014t0003 a0001c0015t0003 a0001c0017t0003 a0002c0004t0004	a0001c0001t0002g0101 a0001c0001t0002g0177 a0001c0001t0004g0129 others(34): Show a0001c0001t0002g0101 a0001c0001t0002g0177 a0001c0001t0004g0129 a0001c0001t0004g0251 a0001c0002t0003g0002 a0001c0002t0003g0044 a0001c0002t0003g0270 a0001c0002t0003g0279 a0001c0002t0003g0294 a0001c0002t0003g0299 a0001c0002t0003g0300 a0001c0002t0003g0301 a0001c0002t0003g0302 a0001c0002t0003g0305 a0001c0002t0003g0313 a0001c0002t0003g0314 a0001c0002t0003g0315 a0001c0002t0004g0027 a0001c0002t0005g0043 a0001c0003t0003g0311 a0001c0003t0004g0014 a0001c0003t0004g0040 a0001c0003t0004g0074 a0001c0003t0004g0079 a0001c0003t0004g0086 a0001c0003t0004g0092 a0001c0003t0004g0093 a0001c0003t0004g0144 a0001c0003t0004g0187 a0001c0003t0004g0250 a0001c0003t0004g0260 a0001c0003t0004g0267 a0001c0013t0003g0317 a0001c0014t0003g0296 a0001c0015t0003g0290 a0001c0017t0003g0331 a0002c0004t0004g0006	52	227	0.2291	8	c.169 others(22): Show c.1690-10_1690-3dupCCACCCAC		PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	14/15				INFO_REALIGN_3_PRIME	chr1	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0011 a0001c0014t0011	a0001c0014t0011g0268 a0001c0014t0011g0268	1	39	0.0256	15	c.186 others(27): Show c.186-17_186-3dupCCCCCCCCCCCCCCC		PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19				INFO_REALIGN_3_PRIME	chr10	TogoVar
PANK2_chr20_3884387_3934887	3889432	T T	A A	start_lost start_lost	HIGH	HG00408.hp2 HG00735.hp2 HG01070.hp1 others(43): Show HG00408.hp2 HG00735.hp2 HG01070.hp1 HG01074.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02886.hp1 HG02895.hp2 HG06807.hp2 NA18953.hp2 NA18954.hp1 NA18967.hp1 NA18970.hp2 NA18980.hp1 NA18986.hp1 NA19009.hp1 NA19010.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0004 a0001c0003t0010 others(11): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0010 a0001c0003t0013 a0001c0003t0014 a0001c0003t0018 a0001c0003t0019 a0001c0003t0027 a0001c0003t0028 a0001c0003t0038 a0001c0003t0060 a0001c0003t0067 a0001c0003t0142 a0001c0006t0069	a0001c0003t0001g0001 a0001c0003t0004g0001 a0001c0003t0004g0012 others(36): Show a0001c0003t0001g0001 a0001c0003t0004g0001 a0001c0003t0004g0012 a0001c0003t0004g0038 a0001c0003t0004g0041 a0001c0003t0004g0042 a0001c0003t0004g0044 a0001c0003t0004g0045 a0001c0003t0004g0047 a0001c0003t0004g0049 a0001c0003t0004g0050 a0001c0003t0004g0051 a0001c0003t0004g0053 a0001c0003t0004g0054 a0001c0003t0004g0055 a0001c0003t0004g0056 a0001c0003t0010g0001 a0001c0003t0010g0034 a0001c0003t0010g0048 a0001c0003t0010g0059 a0001c0003t0013g0040 a0001c0003t0014g0001 a0001c0003t0014g0011 a0001c0003t0014g0037 a0001c0003t0014g0039 a0001c0003t0014g0043 a0001c0003t0014g0061 a0001c0003t0018g0221 a0001c0003t0019g0001 a0001c0003t0027g0001 a0001c0003t0027g0012 a0001c0003t0027g0046 a0001c0003t0028g0052 a0001c0003t0028g0058 a0001c0003t0038g0036 a0001c0003t0060g0062 a0001c0003t0067g0060 a0001c0003t0142g0035 a0001c0006t0069g0057	46	420	0.1095	0	c.2T> others(1): Show c.2T>A	p.Leu others(2): Show p.Leu1?	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding	1/7	46/8020	2/1383	1/460		chr20	TogoVar
PATE4_chr11_125828316_125845072	125837866	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(193): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19043.hp2 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0001t0016 a0001c0001t0017 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0012g0001 a0001c0001t0016g0001 a0001c0001t0017g0043 a0003c0003t0001g0001	196	422	0.4645	0	c.59- others(4): Show c.59-2A>C		PATE4	ENSG00000237353.7	transcript	ENST00000457514.3	protein_coding	1/2					chr11	TogoVar
PEBP4_chr8_22708251_22932914	22713394	GT GT	G G	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00544.hp1 HG00544.hp2 others(74): Show HG00140.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp1 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02080.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03927.hp1 HG04204.hp1 NA18951.hp1 NA18964.hp2 NA18966.hp2 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18999.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2	a0003 a0004 a0009 others(3): Show a0003 a0004 a0009 a0010 a0011 a0013	a0003c0004 a0003c0007 a0003c0008 others(9): Show a0003c0004 a0003c0007 a0003c0008 a0003c0033 a0004c0003 a0004c0010 a0004c0011 a0004c0013 a0009c0029 a0010c0028 a0011c0017 a0013c0024	a0003c0004t0003 a0003c0004t0004 a0003c0007t0003 others(15): Show a0003c0004t0003 a0003c0004t0004 a0003c0007t0003 a0003c0007t0004 a0003c0008t0006 a0003c0008t0008 a0003c0033t0008 a0004c0003t0003 a0004c0003t0004 a0004c0003t0010 a0004c0010t0004 a0004c0011t0006 a0004c0013t0003 a0004c0013t0004 a0009c0029t0003 a0010c0028t0003 a0011c0017t0011 a0013c0024t0003	a0003c0004t0003g0050 a0003c0004t0003g0052 a0003c0004t0003g0053 others(74): Show a0003c0004t0003g0050 a0003c0004t0003g0052 a0003c0004t0003g0053 a0003c0004t0003g0054 a0003c0004t0003g0128 a0003c0004t0003g0141 a0003c0004t0003g0147 a0003c0004t0003g0151 a0003c0004t0004g0171 a0003c0004t0004g0180 a0003c0004t0004g0183 a0003c0004t0004g0188 a0003c0004t0004g0195 a0003c0004t0004g0205 a0003c0004t0004g0217 a0003c0004t0004g0224 a0003c0004t0004g0236 a0003c0004t0004g0255 a0003c0004t0004g0256 a0003c0004t0004g0259 a0003c0004t0004g0262 a0003c0004t0004g0267 a0003c0007t0003g0048 a0003c0007t0003g0062 a0003c0007t0003g0072 a0003c0007t0003g0078 a0003c0007t0003g0097 a0003c0007t0003g0131 a0003c0007t0004g0243 a0003c0007t0004g0251 a0003c0007t0004g0253 a0003c0008t0006g0011 a0003c0008t0006g0012 a0003c0008t0006g0016 a0003c0008t0006g0024 a0003c0008t0006g0027 a0003c0008t0008g0014 a0003c0033t0008g0026 a0004c0003t0003g0034 a0004c0003t0003g0036 a0004c0003t0003g0040 a0004c0003t0003g0045 a0004c0003t0003g0046 a0004c0003t0003g0047 a0004c0003t0003g0074 a0004c0003t0003g0076 a0004c0003t0003g0079 a0004c0003t0003g0083 a0004c0003t0003g0089 a0004c0003t0003g0116 a0004c0003t0003g0127 a0004c0003t0003g0134 a0004c0003t0003g0139 a0004c0003t0003g0140 a0004c0003t0003g0155 a0004c0003t0004g0213 a0004c0003t0004g0216 a0004c0003t0004g0226 a0004c0003t0004g0246 a0004c0003t0004g0252 a0004c0003t0004g0260 a0004c0003t0004g0269 a0004c0003t0010g0095 a0004c0010t0004g0169 a0004c0010t0004g0182 a0004c0010t0004g0189 a0004c0010t0004g0190 a0004c0011t0006g0005 a0004c0011t0006g0008 a0004c0011t0006g0017 a0004c0011t0006g0028 a0004c0013t0003g0107 a0004c0013t0004g0247 a0009c0029t0003g0060 a0010c0028t0003g0061 a0011c0017t0011g0032 a0013c0024t0003g0109	77	276	0.2790	-1	c.659 others(4): Show c.659delA	p.Asn others(5): Show p.Asn220fs	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	7/7	757/901	659/684	220/227		chr8	TogoVar
PI4KA_chr22_20702691_20863811	20765687	G G	A A	stop_gained stop_gained	HIGH	HG02886.hp2 HG02886.hp2	a0005 a0005	a0005c0027 a0005c0027	a0005c0027t0006 a0005c0027t0006	a0005c0027t0006g0028 a0005c0027t0006g0028	1	332	0.0030	0	c.233 others(4): Show c.2335C>T	p.Arg others(4): Show p.Arg779*	PI4KA	ENSG00000241973.11	transcript	ENST00000255882.11	protein_coding	20/55	2421/6751	2335/6309	779/2102		chr22	TogoVar
PITRM1_chr10_3132728_3177782	3166375	T T	TGCACGCT others(18): Show TGCACGCTAGGGAAGAGAGAGGAATG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(276): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0015	a0001c0001 a0001c0002 a0001c0005 others(43): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0001c0011 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0033 a0001c0044 a0001c0045 a0001c0046 a0001c0047 a0001c0048 a0001c0049 a0001c0050 a0001c0051 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0003c0008 a0003c0010 a0003c0035 a0003c0062 a0003c0063 a0003c0064 a0003c0065 a0003c0066 a0003c0067 a0006c0017 a0006c0060 a0015c0036	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(44): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0001c0009t0001 a0001c0011t0001 a0001c0011t0003 a0001c0012t0001 a0001c0013t0001 a0001c0015t0002 a0001c0016t0004 a0001c0019t0005 a0001c0020t0001 a0001c0021t0001 a0001c0022t0001 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0031t0003 a0001c0032t0001 a0001c0033t0001 a0001c0044t0002 a0001c0045t0002 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001 a0001c0050t0001 a0001c0051t0001 a0001c0052t0001 a0001c0053t0001 a0001c0054t0004 a0001c0055t0001 a0001c0056t0001 a0001c0057t0001 a0001c0058t0001 a0003c0008t0001 a0003c0010t0001 a0003c0035t0001 a0003c0062t0001 a0003c0063t0001 a0003c0064t0001 a0003c0065t0001 a0003c0066t0001 a0003c0067t0001 a0006c0017t0001 a0006c0060t0001 a0015c0036t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(185): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0268 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0013 a0001c0002t0001g0025 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0005t0002g0014 a0001c0005t0002g0015 a0001c0005t0002g0030 a0001c0005t0002g0052 a0001c0005t0002g0053 a0001c0005t0002g0212 a0001c0005t0002g0213 a0001c0005t0002g0214 a0001c0005t0002g0250 a0001c0005t0002g0252 a0001c0005t0002g0253 a0001c0005t0002g0254 a0001c0005t0002g0255 a0001c0005t0002g0258 a0001c0005t0002g0260 a0001c0005t0002g0262 a0001c0005t0002g0264 a0001c0005t0002g0265 a0001c0005t0002g0266 a0001c0005t0002g0267 a0001c0009t0001g0031 a0001c0009t0001g0083 a0001c0009t0001g0120 a0001c0009t0001g0132 a0001c0009t0001g0133 a0001c0009t0001g0135 a0001c0011t0001g0065 a0001c0011t0001g0067 a0001c0011t0001g0068 a0001c0011t0001g0081 a0001c0011t0001g0143 a0001c0011t0003g0082 a0001c0012t0001g0019 a0001c0012t0001g0131 a0001c0012t0001g0134 a0001c0013t0001g0024 a0001c0013t0001g0230 a0001c0013t0001g0244 a0001c0015t0002g0249 a0001c0015t0002g0256 a0001c0015t0002g0257 a0001c0015t0002g0261 a0001c0016t0004g0074 a0001c0016t0004g0075 a0001c0016t0004g0077 a0001c0016t0004g0078 a0001c0019t0005g0033 a0001c0019t0005g0121 a0001c0020t0001g0141 a0001c0020t0001g0142 a0001c0020t0001g0144 a0001c0021t0001g0066 a0001c0021t0001g0069 a0001c0021t0001g0101 a0001c0022t0001g0147 a0001c0022t0001g0148 a0001c0022t0001g0149 a0001c0028t0002g0054 a0001c0029t0001g0045 a0001c0030t0001g0051 a0001c0031t0003g0072 a0001c0031t0003g0073 a0001c0032t0001g0056 a0001c0033t0001g0032 a0001c0044t0002g0263 a0001c0045t0002g0259 a0001c0046t0001g0137 a0001c0047t0001g0235 a0001c0048t0001g0117 a0001c0049t0001g0109 a0001c0050t0001g0080 a0001c0051t0001g0246 a0001c0052t0001g0224 a0001c0053t0001g0084 a0001c0054t0004g0076 a0001c0055t0001g0140 a0001c0056t0001g0136 a0001c0057t0001g0079 a0001c0058t0001g0119 a0003c0008t0001g0060 a0003c0008t0001g0061 a0003c0008t0001g0292 a0003c0008t0001g0294 a0003c0008t0001g0295 a0003c0008t0001g0297 a0003c0008t0001g0298 a0003c0008t0001g0299 a0003c0010t0001g0059 a0003c0010t0001g0291 a0003c0010t0001g0300 a0003c0010t0001g0302 a0003c0010t0001g0305 a0003c0035t0001g0058 a0003c0062t0001g0296 a0003c0063t0001g0304 a0003c0064t0001g0306 a0003c0065t0001g0303 a0003c0066t0001g0293 a0003c0067t0001g0301 a0006c0017t0001g0284 a0006c0017t0001g0285 a0006c0017t0001g0286 a0006c0017t0001g0288 a0006c0060t0001g0287 a0015c0036t0002g0251	279	442	0.6312	25	c.271 others(32): Show c.271_272insCATTCCTCTCTCTTCCCTAGCGTGC	p.Gln others(4): Show p.Gln91fs	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding	4/27	281/3427	271/3114	91/1037		chr10	TogoVar
PKD1L3_chr16_71924538_72005402	71947511	CTTTG CTTTG	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(61): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01109.hp2 HG01123.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03654.hp1 HG03710.hp2 HG03831.hp1 NA18906.hp1 NA18941.hp2 NA19043.hp2 NA19087.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2	a0003 a0004 a0006 others(10): Show a0003 a0004 a0006 a0012 a0013 a0014 a0021 a0026 a0028 a0036 a0037 a0041 a0042	a0003c0004 a0003c0016 a0003c0071 others(16): Show a0003c0004 a0003c0016 a0003c0071 a0003c0073 a0003c0074 a0004c0043 a0006c0006 a0012c0012 a0012c0053 a0013c0014 a0013c0059 a0014c0029 a0021c0022 a0026c0036 a0028c0033 a0036c0078 a0037c0060 a0041c0051 a0042c0049	a0003c0004t0001 a0003c0016t0001 a0003c0071t0001 others(16): Show a0003c0004t0001 a0003c0016t0001 a0003c0071t0001 a0003c0073t0001 a0003c0074t0001 a0004c0043t0001 a0006c0006t0001 a0012c0012t0001 a0012c0053t0001 a0013c0014t0001 a0013c0059t0001 a0014c0029t0001 a0021c0022t0001 a0026c0036t0001 a0028c0033t0001 a0036c0078t0001 a0037c0060t0002 a0041c0051t0001 a0042c0049t0001	a0003c0004t0001g0033 a0003c0004t0001g0146 a0003c0004t0001g0159 others(61): Show a0003c0004t0001g0033 a0003c0004t0001g0146 a0003c0004t0001g0159 a0003c0004t0001g0163 a0003c0004t0001g0191 a0003c0004t0001g0192 a0003c0004t0001g0196 a0003c0004t0001g0222 a0003c0004t0001g0223 a0003c0004t0001g0231 a0003c0004t0001g0232 a0003c0004t0001g0233 a0003c0004t0001g0234 a0003c0004t0001g0236 a0003c0004t0001g0237 a0003c0004t0001g0238 a0003c0004t0001g0239 a0003c0004t0001g0240 a0003c0004t0001g0247 a0003c0004t0001g0251 a0003c0004t0001g0252 a0003c0016t0001g0049 a0003c0016t0001g0190 a0003c0016t0001g0242 a0003c0016t0001g0243 a0003c0016t0001g0244 a0003c0071t0001g0266 a0003c0073t0001g0149 a0003c0074t0001g0235 a0004c0043t0001g0137 a0006c0006t0001g0032 a0006c0006t0001g0035 a0006c0006t0001g0036 a0006c0006t0001g0037 a0006c0006t0001g0038 a0006c0006t0001g0039 a0006c0006t0001g0040 a0006c0006t0001g0041 a0006c0006t0001g0042 a0006c0006t0001g0044 a0006c0006t0001g0045 a0006c0006t0001g0046 a0012c0012t0001g0129 a0012c0012t0001g0138 a0012c0012t0001g0139 a0012c0012t0001g0140 a0012c0012t0001g0141 a0012c0012t0001g0142 a0012c0053t0001g0108 a0013c0014t0001g0055 a0013c0014t0001g0056 a0013c0014t0001g0078 a0013c0014t0001g0119 a0013c0014t0001g0120 a0013c0059t0001g0130 a0014c0029t0001g0001 a0021c0022t0001g0009 a0021c0022t0001g0021 a0026c0036t0001g0019 a0028c0033t0001g0010 a0036c0078t0001g0256 a0037c0060t0002g0302 a0041c0051t0001g0077 a0042c0049t0001g0073	64	306	0.2092	-4	c.369 others(13): Show c.3695_3698delCAAA	p.Thr others(6): Show p.Thr1232fs	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/30	4122/5623	3695/5199	1232/1732		chr16	TogoVar
PKD1L3_chr16_71924538_72005402	71999722	AC AC	A A	frameshift_variant frameshift_variant	HIGH	HG01891.hp1 HG02886.hp2 HG02895.hp1 others(2): Show HG01891.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG03471.hp1	a0014 a0014	a0014c0081 a0014c0082 a0014c0083 others(2): Show a0014c0081 a0014c0082 a0014c0083 a0014c0084 a0014c0085	a0014c0081t0001 a0014c0082t0001 a0014c0083t0001 others(2): Show a0014c0081t0001 a0014c0082t0001 a0014c0083t0001 a0014c0084t0001 a0014c0085t0001	a0014c0081t0001g0292 a0014c0082t0001g0289 a0014c0083t0001g0288 others(2): Show a0014c0081t0001g0292 a0014c0082t0001g0289 a0014c0083t0001g0288 a0014c0084t0001g0290 a0014c0085t0001g0291	5	306	0.0163	-1	c.256 others(4): Show c.256delG	p.Val others(4): Show p.Val86fs	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	1/30	680/5623	256/5199	86/1732		chr16	TogoVar
PLEKHA2_chr8_38896346_38978912	38901439	C C	CG CG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(333): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.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 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.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 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 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.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 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.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 NA19065.hp1 NA19065.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0002c0002 a0003c0005 a0004c0006 a0005c0004 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0003t0001 a0001c0008t0017 a0002c0002t0001 a0002c0002t0004 a0002c0002t0031 a0003c0005t0002 a0004c0006t0001 a0005c0004t0005 a0006c0009t0008	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 others(330): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0001g0355 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0365 a0001c0001t0001g0368 a0001c0001t0001g0372 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0002g0068 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0116 a0001c0001t0002g0120 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0175 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0202 a0001c0001t0002g0207 a0001c0001t0002g0209 a0001c0001t0002g0216 a0001c0001t0002g0222 a0001c0001t0002g0229 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0266 a0001c0001t0002g0305 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0312 a0001c0001t0002g0323 a0001c0001t0002g0326 a0001c0001t0002g0335 a0001c0001t0002g0338 a0001c0001t0002g0340 a0001c0001t0002g0344 a0001c0001t0002g0349 a0001c0001t0002g0354 a0001c0001t0002g0359 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0369 a0001c0001t0002g0370 a0001c0001t0003g0003 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0040 a0001c0001t0003g0058 a0001c0001t0003g0060 a0001c0001t0003g0081 a0001c0001t0003g0088 a0001c0001t0003g0101 a0001c0001t0003g0112 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0003g0123 a0001c0001t0003g0128 a0001c0001t0003g0134 a0001c0001t0003g0137 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0178 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0254 a0001c0001t0003g0264 a0001c0001t0003g0276 a0001c0001t0003g0292 a0001c0001t0003g0296 a0001c0001t0003g0320 a0001c0001t0003g0328 a0001c0001t0003g0345 a0001c0001t0004g0032 a0001c0001t0004g0109 a0001c0001t0004g0115 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0236 a0001c0001t0004g0245 a0001c0001t0004g0257 a0001c0001t0004g0268 a0001c0001t0004g0285 a0001c0001t0004g0294 a0001c0001t0004g0313 a0001c0001t0004g0318 a0001c0001t0004g0347 a0001c0001t0004g0367 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0064 a0001c0001t0005g0203 a0001c0001t0005g0221 a0001c0001t0005g0300 a0001c0001t0005g0341 a0001c0001t0005g0346 a0001c0001t0005g0353 a0001c0001t0005g0358 a0001c0001t0006g0020 a0001c0001t0006g0097 a0001c0001t0006g0111 a0001c0001t0006g0267 a0001c0001t0006g0303 a0001c0001t0006g0315 a0001c0001t0006g0331 a0001c0001t0006g0337 a0001c0001t0006g0348 a0001c0001t0008g0012 a0001c0001t0008g0108 a0001c0001t0008g0225 a0001c0001t0008g0287 a0001c0001t0008g0291 a0001c0001t0008g0333 a0001c0001t0009g0001 a0001c0001t0009g0080 a0001c0001t0009g0089 a0001c0001t0009g0092 a0001c0001t0009g0093 a0001c0001t0009g0228 a0001c0001t0010g0195 a0001c0001t0010g0259 a0001c0001t0010g0260 a0001c0001t0010g0278 a0001c0001t0010g0307 a0001c0001t0010g0314 a0001c0001t0012g0086 a0001c0001t0012g0193 a0001c0001t0012g0211 a0001c0001t0012g0213 a0001c0001t0012g0224 a0001c0001t0014g0208 a0001c0001t0014g0247 a0001c0001t0014g0248 a0001c0001t0014g0249 a0001c0001t0015g0179 a0001c0001t0015g0239 a0001c0001t0015g0286 a0001c0001t0015g0322 a0001c0001t0017g0061 a0001c0001t0017g0223 a0001c0001t0018g0130 a0001c0001t0018g0243 a0001c0001t0018g0373 a0001c0001t0019g0071 a0001c0001t0019g0090 a0001c0001t0020g0009 a0001c0001t0020g0073 a0001c0001t0021g0215 a0001c0001t0021g0277 a0001c0001t0022g0185 a0001c0001t0022g0186 a0001c0001t0023g0356 a0001c0001t0023g0357 a0001c0001t0024g0083 a0001c0001t0024g0091 a0001c0001t0025g0010 a0001c0001t0025g0072 a0001c0001t0026g0082 a0001c0001t0026g0084 a0001c0001t0030g0037 a0001c0001t0032g0094 a0001c0001t0033g0170 a0001c0001t0034g0210 a0001c0001t0035g0212 a0001c0001t0036g0306 a0001c0001t0037g0180 a0001c0001t0038g0234 a0001c0001t0039g0273 a0001c0001t0040g0265 a0001c0001t0041g0304 a0001c0001t0042g0241 a0001c0001t0043g0059 a0001c0001t0044g0289 a0001c0001t0045g0301 a0001c0001t0046g0197 a0001c0001t0047g0182 a0001c0001t0048g0366 a0001c0003t0001g0319 a0001c0008t0017g0371 a0002c0002t0001g0194 a0002c0002t0004g0070 a0002c0002t0031g0034 a0003c0005t0002g0332 a0004c0006t0001g0044 a0005c0004t0005g0351 a0006c0009t0008g0174	336	372	0.9032	1	c.-24 others(6): Show c.-24+1dupG		PLEKHA2	ENSG00000169499.15	transcript	ENST00000617275.5	protein_coding	1/11				INFO_REALIGN_3_PRIME	chr8	TogoVar
PLEKHG7_chr12_92697989_92777455	92754092	G G	A A	stop_gained others(1): Show stop_gained splice_region_variant	HIGH	HG02647.hp1 HG02886.hp2 HG02647.hp1 HG02886.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0006 a0007c0014t0006	a0007c0014t0006g0054 a0007c0014t0006g0055 a0007c0014t0006g0054 a0007c0014t0006g0055	2	250	0.0080	0	c.125 others(4): Show c.1254G>A	p.Trp others(4): Show p.Trp418*	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	11/17	1559/4641	1254/2076	418/691		chr12	TogoVar
PLK5_chr19_1519077_1541046	1534043	T T	C C	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0006 a0011 others(1): Show a0001 a0006 a0011 a0012	a0001c0001 a0001c0007 a0001c0016 others(4): Show a0001c0001 a0001c0007 a0001c0016 a0001c0020 a0006c0009 a0011c0018 a0012c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0061 a0001c0001t0065 a0001c0001t0066 a0001c0007t0008 a0001c0007t0076 a0001c0016t0001 a0001c0020t0005 a0006c0009t0001 a0011c0018t0011 a0012c0013t0050	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(149): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0165 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0004g0015 a0001c0001t0004g0042 a0001c0001t0004g0236 a0001c0001t0004g0238 a0001c0001t0004g0240 a0001c0001t0004g0241 a0001c0001t0004g0243 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0255 a0001c0001t0004g0257 a0001c0001t0004g0259 a0001c0001t0004g0260 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0265 a0001c0001t0004g0275 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0004g0283 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0005g0009 a0001c0001t0005g0014 a0001c0001t0005g0039 a0001c0001t0005g0056 a0001c0001t0005g0183 a0001c0001t0005g0196 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0211 a0001c0001t0005g0213 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0008g0008 a0001c0001t0008g0026 a0001c0001t0008g0036 a0001c0001t0008g0135 a0001c0001t0009g0034 a0001c0001t0009g0035 a0001c0001t0009g0175 a0001c0001t0009g0176 a0001c0001t0009g0177 a0001c0001t0009g0178 a0001c0001t0009g0182 a0001c0001t0009g0272 a0001c0001t0011g0028 a0001c0001t0011g0146 a0001c0001t0011g0147 a0001c0001t0011g0150 a0001c0001t0011g0151 a0001c0001t0013g0209 a0001c0001t0022g0009 a0001c0001t0022g0038 a0001c0001t0023g0022 a0001c0001t0023g0115 a0001c0001t0023g0234 a0001c0001t0024g0245 a0001c0001t0024g0246 a0001c0001t0024g0248 a0001c0001t0028g0193 a0001c0001t0028g0194 a0001c0001t0030g0125 a0001c0001t0030g0126 a0001c0001t0031g0041 a0001c0001t0031g0227 a0001c0001t0032g0168 a0001c0001t0032g0169 a0001c0001t0037g0055 a0001c0001t0039g0065 a0001c0001t0041g0215 a0001c0001t0043g0179 a0001c0001t0047g0218 a0001c0001t0049g0123 a0001c0001t0051g0057 a0001c0001t0056g0022 a0001c0001t0057g0273 a0001c0001t0058g0041 a0001c0001t0059g0137 a0001c0001t0061g0042 a0001c0001t0065g0185 a0001c0001t0066g0186 a0001c0007t0008g0026 a0001c0007t0008g0132 a0001c0007t0008g0133 a0001c0007t0076g0305 a0001c0016t0001g0002 a0001c0020t0005g0210 a0006c0009t0001g0001 a0006c0009t0001g0025 a0006c0009t0001g0096 a0011c0018t0011g0145 a0012c0013t0050g0074	210	428	0.4907	0	c.825 others(5): Show c.825+2T>C		PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	13/13					chr19	TogoVar
POLR3B_chr12_106352748_106515198	106427179	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp1 HG00642.hp1 others(55): Show HG00099.hp1 HG00140.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01167.hp1 HG01346.hp1 HG01358.hp2 HG01516.hp2 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA19057.hp2 NA19064.hp2 NA19081.hp2 NA20300.hp1 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0011 a0004c0016 a0001c0001 a0001c0011 a0004c0016	a0001c0001t0001 a0001c0001t0009 a0001c0011t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0011t0001 a0004c0016t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(55): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0105 a0001c0001t0001g0141 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0257 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0009g0053 a0001c0011t0001g0162 a0004c0016t0001g0027	58	158	0.3671	1	c.110 others(7): Show c.1102-3dupT		POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding	12/27				INFO_REALIGN_3_PRIME	chr12	TogoVar
POMZP3_chr7_76604986_76632279	76611468	CA CA	C C	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(208): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18960.hp1 NA18963.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19089.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0002 a0004 a0005 others(3): Show a0002 a0004 a0005 a0006 a0008 a0010	a0002c0002 a0002c0007 a0002c0009 others(6): Show a0002c0002 a0002c0007 a0002c0009 a0002c0013 a0004c0004 a0005c0005 a0006c0006 a0008c0010 a0010c0011	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(25): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0008 a0002c0002t0011 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0016 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0027 a0002c0002t0029 a0002c0002t0030 a0002c0007t0003 a0002c0009t0003 a0002c0013t0004 a0004c0004t0003 a0004c0004t0013 a0004c0004t0018 a0005c0005t0004 a0006c0006t0003 a0008c0010t0003 a0010c0011t0001	a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 others(182): Show a0002c0002t0002g0003 a0002c0002t0002g0008 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0155 a0002c0002t0003g0009 a0002c0002t0003g0019 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0159 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0003g0168 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0171 a0002c0002t0003g0172 a0002c0002t0003g0173 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0176 a0002c0002t0003g0177 a0002c0002t0003g0178 a0002c0002t0003g0179 a0002c0002t0003g0180 a0002c0002t0003g0183 a0002c0002t0003g0184 a0002c0002t0003g0185 a0002c0002t0003g0186 a0002c0002t0003g0187 a0002c0002t0003g0189 a0002c0002t0003g0193 a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0004g0026 a0002c0002t0004g0027 a0002c0002t0004g0201 a0002c0002t0004g0202 a0002c0002t0004g0212 a0002c0002t0004g0213 a0002c0002t0004g0214 a0002c0002t0004g0215 a0002c0002t0004g0216 a0002c0002t0004g0217 a0002c0002t0004g0218 a0002c0002t0004g0219 a0002c0002t0004g0220 a0002c0002t0004g0221 a0002c0002t0004g0222 a0002c0002t0004g0223 a0002c0002t0004g0224 a0002c0002t0004g0225 a0002c0002t0004g0226 a0002c0002t0004g0227 a0002c0002t0004g0228 a0002c0002t0004g0229 a0002c0002t0004g0230 a0002c0002t0004g0231 a0002c0002t0004g0232 a0002c0002t0004g0233 a0002c0002t0004g0234 a0002c0002t0004g0235 a0002c0002t0004g0236 a0002c0002t0004g0237 a0002c0002t0004g0238 a0002c0002t0004g0239 a0002c0002t0004g0240 a0002c0002t0004g0241 a0002c0002t0004g0242 a0002c0002t0004g0244 a0002c0002t0007g0028 a0002c0002t0007g0248 a0002c0002t0007g0249 a0002c0002t0007g0250 a0002c0002t0007g0251 a0002c0002t0008g0018 a0002c0002t0008g0157 a0002c0002t0008g0158 a0002c0002t0011g0042 a0002c0002t0011g0338 a0002c0002t0013g0051 a0002c0002t0014g0012 a0002c0002t0015g0203 a0002c0002t0015g0204 a0002c0002t0016g0245 a0002c0002t0016g0246 a0002c0002t0022g0090 a0002c0002t0023g0154 a0002c0002t0024g0156 a0002c0002t0025g0199 a0002c0002t0026g0200 a0002c0002t0027g0160 a0002c0002t0029g0337 a0002c0002t0030g0339 a0002c0007t0003g0023 a0002c0009t0003g0161 a0002c0013t0004g0243 a0004c0004t0003g0181 a0004c0004t0003g0182 a0004c0004t0003g0190 a0004c0004t0003g0191 a0004c0004t0003g0192 a0004c0004t0003g0194 a0004c0004t0003g0195 a0004c0004t0003g0196 a0004c0004t0003g0198 a0004c0004t0013g0052 a0004c0004t0018g0043 a0005c0005t0004g0205 a0005c0005t0004g0206 a0005c0005t0004g0207 a0005c0005t0004g0208 a0005c0005t0004g0209 a0005c0005t0004g0210 a0006c0006t0003g0022 a0006c0006t0003g0188 a0008c0010t0003g0197 a0010c0011t0001g0269	211	422	0.5000	-1	c.560 others(4): Show c.560delT	p.Leu others(5): Show p.Leu187fs	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding	6/7	1283/1528	560/564	187/187		chr7	TogoVar
PRAM1_chr19_8485056_8507640	8502591	T T	C C	start_lost start_lost	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(125): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01255.hp2 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18968.hp1 NA18975.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19054.hp2 NA19055.hp1 NA19058.hp2 NA19062.hp2 NA19074.hp1 NA19081.hp2 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0002 a0003 a0004 others(23): Show a0002 a0003 a0004 a0006 a0007 a0008 a0010 a0011 a0014 a0015 a0016 a0018 a0025 a0028 a0029 a0031 a0036 a0040 a0042 a0043 a0044 a0045 a0046 a0047 a0051 a0054	a0002c0002 a0003c0003 a0004c0005 others(46): Show a0002c0002 a0003c0003 a0004c0005 a0004c0067 a0004c0076 a0004c0077 a0004c0078 a0006c0006 a0006c0070 a0006c0086 a0007c0016 a0007c0032 a0007c0033 a0007c0071 a0007c0084 a0007c0085 a0008c0015 a0008c0027 a0008c0028 a0008c0029 a0008c0075 a0010c0030 a0010c0031 a0010c0082 a0010c0083 a0011c0013 a0011c0026 a0014c0010 a0015c0024 a0015c0025 a0016c0017 a0016c0090 a0018c0034 a0018c0093 a0025c0080 a0025c0081 a0028c0035 a0029c0091 a0031c0088 a0036c0079 a0040c0069 a0042c0074 a0043c0072 a0044c0089 a0045c0068 a0046c0092 a0047c0073 a0051c0094 a0054c0087	a0002c0002t0002 a0003c0003t0002 a0004c0005t0002 others(47): Show a0002c0002t0002 a0003c0003t0002 a0004c0005t0002 a0004c0067t0002 a0004c0076t0002 a0004c0077t0002 a0004c0078t0002 a0006c0006t0002 a0006c0070t0002 a0006c0086t0001 a0007c0016t0002 a0007c0016t0004 a0007c0032t0002 a0007c0033t0002 a0007c0071t0002 a0007c0084t0002 a0007c0085t0002 a0008c0015t0002 a0008c0027t0002 a0008c0028t0002 a0008c0029t0002 a0008c0075t0002 a0010c0030t0002 a0010c0031t0002 a0010c0082t0002 a0010c0083t0002 a0011c0013t0002 a0011c0026t0002 a0014c0010t0002 a0015c0024t0002 a0015c0025t0002 a0016c0017t0002 a0016c0090t0002 a0018c0034t0002 a0018c0093t0002 a0025c0080t0002 a0025c0081t0002 a0028c0035t0002 a0029c0091t0002 a0031c0088t0002 a0036c0079t0002 a0040c0069t0002 a0042c0074t0002 a0043c0072t0002 a0044c0089t0002 a0045c0068t0002 a0046c0092t0001 a0047c0073t0002 a0051c0094t0002 a0054c0087t0001	a0002c0002t0002g0008 a0002c0002t0002g0053 a0002c0002t0002g0054 others(96): Show a0002c0002t0002g0008 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0218 a0002c0002t0002g0225 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0245 a0002c0002t0002g0252 a0003c0003t0002g0011 a0003c0003t0002g0206 a0003c0003t0002g0207 a0003c0003t0002g0208 a0003c0003t0002g0209 a0003c0003t0002g0210 a0003c0003t0002g0211 a0003c0003t0002g0212 a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0230 a0003c0003t0002g0231 a0003c0003t0002g0233 a0004c0005t0002g0048 a0004c0005t0002g0052 a0004c0005t0002g0176 a0004c0005t0002g0180 a0004c0005t0002g0181 a0004c0005t0002g0194 a0004c0005t0002g0241 a0004c0067t0002g0193 a0004c0076t0002g0177 a0004c0077t0002g0184 a0004c0078t0002g0182 a0006c0006t0002g0024 a0006c0006t0002g0197 a0006c0006t0002g0198 a0006c0006t0002g0220 a0006c0006t0002g0221 a0006c0006t0002g0222 a0006c0070t0002g0192 a0006c0086t0001g0173 a0007c0016t0002g0240 a0007c0016t0004g0051 a0007c0032t0002g0187 a0007c0032t0002g0188 a0007c0033t0002g0196 a0007c0033t0002g0219 a0007c0071t0002g0183 a0007c0084t0002g0186 a0007c0085t0002g0189 a0008c0015t0002g0050 a0008c0015t0002g0248 a0008c0027t0002g0058 a0008c0028t0002g0047 a0008c0029t0002g0046 a0008c0075t0002g0179 a0010c0030t0002g0049 a0010c0031t0002g0242 a0010c0031t0002g0243 a0010c0082t0002g0185 a0010c0083t0002g0239 a0011c0013t0002g0023 a0011c0013t0002g0190 a0011c0026t0002g0055 a0014c0010t0002g0056 a0014c0010t0002g0235 a0014c0010t0002g0236 a0014c0010t0002g0237 a0015c0024t0002g0249 a0015c0024t0002g0250 a0015c0025t0002g0059 a0016c0017t0002g0216 a0016c0017t0002g0217 a0016c0017t0002g0232 a0016c0090t0002g0246 a0018c0034t0002g0204 a0018c0034t0002g0205 a0018c0093t0002g0215 a0025c0080t0002g0247 a0025c0081t0002g0238 a0028c0035t0002g0057 a0029c0091t0002g0226 a0031c0088t0002g0223 a0036c0079t0002g0195 a0040c0069t0002g0244 a0042c0074t0002g0178 a0043c0072t0002g0224 a0044c0089t0002g0251 a0045c0068t0002g0191 a0046c0092t0001g0175 a0047c0073t0002g0234 a0051c0094t0002g0253 a0054c0087t0001g0174	128	420	0.3048	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	1/10	50/2195	1/2013	1/670		chr19	TogoVar
PRAMEF4_chr1_12874212_12891201	12881888	A A	AAACAGAG others(315): Show AAACAGAGTTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCATGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAAGG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00280.hp2 HG00735.hp2 HG01081.hp1 others(14): Show HG00280.hp2 HG00735.hp2 HG01081.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01934.hp2 HG02040.hp1 HG02148.hp1 HG02886.hp2 HG02895.hp2 HG03688.hp1 NA18944.hp1 NA18950.hp2 NA18968.hp2 NA18987.hp1 NA18990.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0016 a0003c0003t0001g0066 others(1): Show a0003c0003t0001g0004 a0003c0003t0001g0016 a0003c0003t0001g0066 a0003c0003t0001g0091	17	315	0.0540	322	c.840 others(329): Show c.840_841insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTGAACTCTGTT	p.Ser others(5): Show p.Ser281fs	PRAMEF4	ENSG00000243073.4	transcript	ENST00000235349.6	protein_coding	3/4	911/1840	840/1437	280/478		chr1	TogoVar
PRB3_chr12_11260914_11274707	11267400	A A	AG AG	frameshift_variant frameshift_variant	HIGH	HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG01167.hp2 HG01169.hp2 HG01261.hp2 HG02040.hp1 HG02055.hp2 HG02074.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18951.hp1 NA18952.hp2 NA18956.hp2 NA18961.hp2 NA18962.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19075.hp2 NA19076.hp1 NA19080.hp1 NA19086.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0003 a0005 a0006 others(5): Show a0003 a0005 a0006 a0013 a0016 a0022 a0026 a0027	a0003c0003 a0003c0028 a0005c0005 others(7): Show a0003c0003 a0003c0028 a0005c0005 a0006c0006 a0006c0035 a0013c0012 a0016c0017 a0022c0034 a0026c0030 a0027c0027	a0003c0003t0002 a0003c0028t0002 a0005c0005t0002 others(7): Show a0003c0003t0002 a0003c0028t0002 a0005c0005t0002 a0006c0006t0002 a0006c0035t0002 a0013c0012t0002 a0016c0017t0002 a0022c0034t0002 a0026c0030t0002 a0027c0027t0002	a0003c0003t0002g0004 a0003c0003t0002g0013 a0003c0003t0002g0022 others(12): Show a0003c0003t0002g0004 a0003c0003t0002g0013 a0003c0003t0002g0022 a0003c0003t0002g0029 a0003c0003t0002g0060 a0003c0028t0002g0062 a0005c0005t0002g0008 a0005c0005t0002g0057 a0006c0006t0002g0009 a0006c0035t0002g0059 a0013c0012t0002g0018 a0016c0017t0002g0027 a0022c0034t0002g0058 a0026c0030t0002g0063 a0027c0027t0002g0061	80	442	0.1810	1	c.848 others(4): Show c.848dupC	p.His others(5): Show p.His284fs	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	886/1227	848/1056	283/351		chr12	TogoVar
PRKD3_chr2_37245502_37329833	37253176	A A	AT AT	frameshift_variant frameshift_variant	HIGH	HG00099.hp2 HG00741.hp1 HG02257.hp1 others(14): Show HG00099.hp2 HG00741.hp1 HG02257.hp1 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02717.hp1 HG02886.hp1 HG02922.hp1 HG03209.hp1 HG03239.hp2 HG03471.hp2 HG03516.hp1 HG03834.hp1 NA18522.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0015 a0002c0005 a0003c0007 a0001c0015 a0002c0005 a0003c0007	a0001c0015t0047 a0002c0005t0028 a0002c0005t0029 others(5): Show a0001c0015t0047 a0002c0005t0028 a0002c0005t0029 a0002c0005t0030 a0002c0005t0055 a0002c0005t0056 a0002c0005t0057 a0003c0007t0012	a0001c0015t0047g0254 a0002c0005t0028g0366 a0002c0005t0028g0370 others(14): Show a0001c0015t0047g0254 a0002c0005t0028g0366 a0002c0005t0028g0370 a0002c0005t0029g0364 a0002c0005t0029g0365 a0002c0005t0030g0362 a0002c0005t0030g0363 a0002c0005t0055g0368 a0002c0005t0056g0367 a0002c0005t0057g0369 a0003c0007t0012g0130 a0003c0007t0012g0240 a0003c0007t0012g0241 a0003c0007t0012g0242 a0003c0007t0012g0243 a0003c0007t0012g0244 a0003c0007t0012g0245	17	386	0.0440	1	c.267 others(5): Show c.2673dupA	p.Ter others(5): Show p.Ter891fs	PRKD3	ENSG00000115825.11	transcript	ENST00000234179.8	protein_coding	19/19	3481/6156	2673/2673	891/890		chr2	TogoVar
PRODH_chr22_18907781_18941293	18925164	C C	T T	stop_gained stop_gained	HIGH	HG00741.hp1 HG01069.hp2 HG01071.hp2 others(16): Show HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp2 HG02132.hp1 HG02145.hp2 HG02559.hp2 HG02717.hp2 HG02886.hp1 HG02895.hp2 HG03041.hp2 HG03139.hp2 HG03471.hp2 NA18955.hp1 NA19005.hp2 NA19043.hp1 NA19043.hp2 NA19083.hp1 NA20752.hp2	a0001 a0004 a0008 others(3): Show a0001 a0004 a0008 a0016 a0039 a0046	a0001c0018 a0001c0029 a0004c0085 others(5): Show a0001c0018 a0001c0029 a0004c0085 a0008c0010 a0008c0039 a0016c0086 a0039c0087 a0046c0084	a0001c0018t0001 a0001c0029t0001 a0004c0085t0001 others(5): Show a0001c0018t0001 a0001c0029t0001 a0004c0085t0001 a0008c0010t0001 a0008c0039t0001 a0016c0086t0002 a0039c0087t0001 a0046c0084t0002	a0001c0018t0001g0166 a0001c0018t0001g0172 a0001c0018t0001g0173 others(10): Show a0001c0018t0001g0166 a0001c0018t0001g0172 a0001c0018t0001g0173 a0001c0018t0001g0186 a0001c0029t0001g0114 a0001c0029t0001g0196 a0004c0085t0001g0267 a0008c0010t0001g0008 a0008c0010t0001g0197 a0008c0039t0001g0041 a0016c0086t0002g0261 a0039c0087t0001g0258 a0046c0084t0002g0200	19	408	0.0466	0	c.554 others(3): Show c.554G>A	p.Trp others(4): Show p.Trp185*	PRODH	ENSG00000100033.17	transcript	ENST00000357068.11	protein_coding	4/14	560/2203	554/1803	185/600		chr22	TogoVar
PRRT1B_chr9_131540523_131564815	131545620	A A	AGGCAGGA others(8): Show AGGCAGGAGCTGGAGG	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG01167.hp1 HG01891.hp2 HG02451.hp2 others(11): Show HG01167.hp1 HG01891.hp2 HG02451.hp2 HG02647.hp1 HG02886.hp1 HG02970.hp1 HG03209.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA21309.hp2	a0005 a0005	a0005c0006 a0005c0009 a0005c0006 a0005c0009	a0005c0006t0007 a0005c0006t0014 a0005c0006t0022 others(5): Show a0005c0006t0007 a0005c0006t0014 a0005c0006t0022 a0005c0006t0032 a0005c0006t0034 a0005c0006t0036 a0005c0009t0016 a0005c0009t0044	a0005c0006t0007g0076 a0005c0006t0007g0077 a0005c0006t0014g0018 others(8): Show a0005c0006t0007g0076 a0005c0006t0007g0077 a0005c0006t0014g0018 a0005c0006t0014g0079 a0005c0006t0022g0037 a0005c0006t0032g0018 a0005c0006t0034g0080 a0005c0006t0036g0018 a0005c0009t0016g0078 a0005c0009t0016g0081 a0005c0009t0044g0082	14	456	0.0307	15	c.12_ others(22): Show c.12_25+1dupAGCTGGAGGGGCAGG		PRRT1B	ENSG00000283526.2	transcript	ENST00000636672.2	protein_coding	1/3				INFO_REALIGN_3_PRIME	chr9	TogoVar
PRSS48_chr4_151272161_151296862	151291451	T T	G G	stop_lost stop_lost	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0005 a0002c0002 others(4): Show a0001c0001 a0001c0005 a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0006c0007	a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0005t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0003c0003t0001 a0004c0004t0004 a0005c0006t0002 a0006c0007t0004	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(98): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0005t0001g0124 a0001c0005t0001g0125 a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0005g0001 a0002c0002t0005g0062 a0002c0002t0006g0001 a0003c0003t0001g0002 a0003c0003t0001g0012 a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0026 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0001g0116 a0003c0003t0001g0117 a0003c0003t0001g0118 a0003c0003t0001g0119 a0003c0003t0001g0120 a0003c0003t0001g0121 a0003c0003t0001g0122 a0003c0003t0001g0126 a0003c0003t0001g0127 a0003c0003t0001g0130 a0003c0003t0001g0131 a0004c0004t0004g0009 a0004c0004t0004g0022 a0004c0004t0004g0039 a0004c0004t0004g0081 a0004c0004t0004g0082 a0005c0006t0002g0059 a0006c0007t0004g0132	324	426	0.7606	0	c.985 others(3): Show c.985T>G	p.Ter others(11): Show p.Ter329Gluext*?	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding	5/5	997/1408	985/987	329/328		chr4	TogoVar
PSG7_chr19_42919132_42942207	42935542	G G	A A	stop_gained stop_gained	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(372): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 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.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 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 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0010	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0005c0018 a0008c0017 a0010c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0002t0002 a0001c0002t0010 a0001c0004t0002 a0001c0005t0002 a0001c0006t0001 a0001c0007t0002 a0001c0009t0002 a0001c0010t0002 a0001c0011t0002 a0001c0012t0001 a0001c0013t0001 a0001c0014t0002 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0023t0001 a0001c0024t0001 a0005c0018t0001 a0008c0017t0002 a0010c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(188): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0076 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0002g0044 a0001c0001t0002g0097 a0001c0001t0006g0205 a0001c0001t0007g0115 a0001c0001t0008g0164 a0001c0001t0009g0165 a0001c0001t0011g0213 a0001c0001t0012g0214 a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0043 a0001c0002t0002g0045 a0001c0002t0002g0075 a0001c0002t0002g0077 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0096 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0010g0074 a0001c0004t0002g0038 a0001c0004t0002g0039 a0001c0004t0002g0040 a0001c0004t0002g0041 a0001c0004t0002g0118 a0001c0005t0002g0042 a0001c0005t0002g0094 a0001c0005t0002g0095 a0001c0005t0002g0113 a0001c0005t0002g0119 a0001c0006t0001g0026 a0001c0006t0001g0204 a0001c0007t0002g0016 a0001c0009t0002g0030 a0001c0009t0002g0063 a0001c0010t0002g0020 a0001c0011t0002g0091 a0001c0011t0002g0139 a0001c0012t0001g0036 a0001c0013t0001g0168 a0001c0013t0001g0177 a0001c0014t0002g0064 a0001c0014t0002g0065 a0001c0020t0002g0078 a0001c0021t0002g0120 a0001c0022t0001g0175 a0001c0023t0001g0116 a0001c0024t0001g0184 a0005c0018t0001g0153 a0008c0017t0002g0081 a0010c0027t0002g0138	375	414	0.9058	0	c.292 others(3): Show c.292C>T	p.Arg others(3): Show p.Arg98*	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/6	423/2067	292/1260	98/419		chr19	TogoVar
PSORS1C1_chr6_31109800_31145092	31138723	T T	TC TC	frameshift_variant frameshift_variant	HIGH	HG00423.hp1 HG00733.hp2 HG00735.hp1 others(54): Show HG00423.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp2 HG01167.hp1 HG01261.hp1 HG01346.hp2 HG01943.hp1 HG01978.hp1 HG01993.hp2 HG02071.hp1 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02886.hp2 HG03225.hp2 HG03239.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp1 NA18522.hp2 NA18940.hp2 NA18946.hp1 NA18950.hp2 NA18954.hp1 NA18959.hp2 NA18962.hp1 NA18965.hp1 NA18969.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18991.hp2 NA18992.hp1 NA18998.hp1 NA19001.hp2 NA19004.hp1 NA19009.hp2 NA19059.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19081.hp1 NA19085.hp1 NA20129.hp1 NA20300.hp2	a0004 a0006 a0004 a0006	a0004c0005 a0006c0006 a0006c0013 a0004c0005 a0006c0006 a0006c0013	a0004c0005t0001 a0004c0005t0003 a0004c0005t0005 others(4): Show a0004c0005t0001 a0004c0005t0003 a0004c0005t0005 a0004c0005t0006 a0004c0005t0021 a0006c0006t0004 a0006c0013t0019	a0004c0005t0001g0088 a0004c0005t0001g0194 a0004c0005t0001g0204 others(25): Show a0004c0005t0001g0088 a0004c0005t0001g0194 a0004c0005t0001g0204 a0004c0005t0003g0011 a0004c0005t0003g0016 a0004c0005t0003g0169 a0004c0005t0003g0170 a0004c0005t0003g0171 a0004c0005t0003g0178 a0004c0005t0003g0179 a0004c0005t0003g0180 a0004c0005t0003g0186 a0004c0005t0003g0189 a0004c0005t0005g0226 a0004c0005t0006g0024 a0004c0005t0006g0163 a0004c0005t0006g0164 a0004c0005t0006g0165 a0004c0005t0021g0235 a0006c0006t0004g0002 a0006c0006t0004g0018 a0006c0006t0004g0028 a0006c0006t0004g0056 a0006c0006t0004g0057 a0006c0006t0004g0221 a0006c0006t0004g0222 a0006c0006t0004g0223 a0006c0013t0019g0225	57	414	0.1377	1	c.118 others(4): Show c.118dupC	p.His others(4): Show p.His40fs	PSORS1C1	ENSG00000204540.11	transcript	ENST00000259881.10	protein_coding	5/6	439/939	119/459	40/152	INFO_REALIGN_3_PRIME	chr6	TogoVar
PTPN23_chr3_47376021_47418435	47411089	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00558.hp2 others(132): Show HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18906.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18987.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0002 a0004 a0005 others(6): Show a0002 a0004 a0005 a0006 a0010 a0013 a0015 a0016 a0020	a0002c0004 a0002c0008 a0002c0009 others(17): Show a0002c0004 a0002c0008 a0002c0009 a0002c0012 a0002c0016 a0002c0030 a0002c0031 a0004c0003 a0004c0025 a0005c0007 a0005c0028 a0005c0029 a0005c0041 a0006c0011 a0006c0038 a0010c0036 a0013c0018 a0015c0043 a0016c0021 a0020c0024	a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 others(18): Show a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 a0002c0009t0001 a0002c0012t0001 a0002c0016t0001 a0002c0030t0001 a0002c0031t0001 a0004c0003t0001 a0004c0025t0001 a0005c0007t0001 a0005c0028t0001 a0005c0029t0001 a0005c0041t0001 a0006c0011t0001 a0006c0038t0001 a0010c0036t0001 a0013c0018t0001 a0015c0043t0001 a0016c0021t0001 a0020c0024t0001	a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 others(118): Show a0002c0004t0001g0001 a0002c0004t0001g0002 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0016 a0002c0004t0001g0017 a0002c0004t0001g0018 a0002c0004t0001g0020 a0002c0004t0001g0022 a0002c0004t0001g0037 a0002c0004t0001g0040 a0002c0004t0001g0042 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0051 a0002c0004t0001g0058 a0002c0004t0001g0060 a0002c0004t0001g0070 a0002c0004t0001g0071 a0002c0004t0001g0074 a0002c0004t0001g0075 a0002c0004t0001g0081 a0002c0004t0001g0084 a0002c0004t0001g0085 a0002c0004t0001g0086 a0002c0004t0001g0088 a0002c0004t0001g0094 a0002c0004t0001g0100 a0002c0004t0001g0118 a0002c0004t0001g0120 a0002c0004t0001g0219 a0002c0004t0001g0240 a0002c0008t0001g0004 a0002c0008t0001g0007 a0002c0008t0001g0113 a0002c0008t0001g0222 a0002c0008t0001g0225 a0002c0008t0001g0228 a0002c0008t0001g0230 a0002c0008t0001g0231 a0002c0008t0003g0235 a0002c0009t0001g0006 a0002c0009t0001g0009 a0002c0009t0001g0125 a0002c0009t0001g0128 a0002c0009t0001g0130 a0002c0009t0001g0131 a0002c0009t0001g0139 a0002c0009t0001g0141 a0002c0012t0001g0005 a0002c0012t0001g0103 a0002c0012t0001g0104 a0002c0012t0001g0107 a0002c0012t0001g0121 a0002c0016t0001g0154 a0002c0016t0001g0161 a0002c0030t0001g0004 a0002c0031t0001g0133 a0004c0003t0001g0003 a0004c0003t0001g0015 a0004c0003t0001g0024 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0031 a0004c0003t0001g0032 a0004c0003t0001g0110 a0004c0003t0001g0115 a0004c0003t0001g0127 a0004c0003t0001g0142 a0004c0003t0001g0156 a0004c0003t0001g0158 a0004c0003t0001g0162 a0004c0003t0001g0163 a0004c0003t0001g0166 a0004c0003t0001g0167 a0004c0003t0001g0169 a0004c0003t0001g0172 a0004c0003t0001g0179 a0004c0003t0001g0183 a0004c0003t0001g0187 a0004c0003t0001g0189 a0004c0003t0001g0194 a0004c0003t0001g0195 a0004c0003t0001g0196 a0004c0003t0001g0200 a0004c0003t0001g0209 a0004c0003t0001g0212 a0004c0003t0001g0213 a0004c0003t0001g0214 a0004c0003t0001g0216 a0004c0003t0001g0238 a0004c0025t0001g0191 a0005c0007t0001g0001 a0005c0007t0001g0008 a0005c0007t0001g0016 a0005c0007t0001g0021 a0005c0007t0001g0061 a0005c0007t0001g0063 a0005c0007t0001g0069 a0005c0007t0001g0082 a0005c0007t0001g0099 a0005c0007t0001g0117 a0005c0007t0001g0119 a0005c0028t0001g0236 a0005c0029t0001g0134 a0005c0041t0001g0005 a0006c0011t0001g0027 a0006c0011t0001g0111 a0006c0011t0001g0132 a0006c0011t0001g0147 a0006c0011t0001g0165 a0006c0011t0001g0168 a0006c0011t0001g0203 a0006c0011t0001g0205 a0006c0038t0001g0176 a0010c0036t0001g0003 a0013c0018t0001g0030 a0015c0043t0001g0239 a0016c0021t0001g0174 a0020c0024t0001g0190	135	330	0.4091	1	c.329 others(5): Show c.3296dupC	p.Arg others(6): Show p.Arg1100fs	PTPN23	ENSG00000076201.16	transcript	ENST00000265562.5	protein_coding	20/25	3373/5237	3297/4911	1099/1636	INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPN4_chr2_119754922_119989899	119956825	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01243.hp2 HG01891.hp2 HG02109.hp2 others(8): Show HG01243.hp2 HG01891.hp2 HG02109.hp2 HG02572.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG03471.hp2 HG03516.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0005 a0002c0002t0016 others(1): Show a0001c0001t0002 a0002c0002t0005 a0002c0002t0016 a0002c0002t0035	a0001c0001t0002g0234 a0002c0002t0005g0242 a0002c0002t0005g0243 others(8): Show a0001c0001t0002g0234 a0002c0002t0005g0242 a0002c0002t0005g0243 a0002c0002t0005g0244 a0002c0002t0005g0245 a0002c0002t0005g0247 a0002c0002t0005g0249 a0002c0002t0005g0250 a0002c0002t0016g0241 a0002c0002t0016g0246 a0002c0002t0035g0248	11	248	0.0444	1	c.198 others(7): Show c.1981-3dupT		PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	20/26				INFO_REALIGN_3_PRIME	chr2	TogoVar
PVALEF_chr17_81160507_81188166	81181121	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02717.hp2 HG02886.hp2 HG02896.hp2 others(3): Show HG02717.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03225.hp2 NA19043.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0009 a0004c0005t0017 a0004c0005t0009 a0004c0005t0017	a0004c0005t0009g0038 a0004c0005t0009g0055 a0004c0005t0009g0078 others(2): Show a0004c0005t0009g0038 a0004c0005t0009g0055 a0004c0005t0009g0078 a0004c0005t0009g0178 a0004c0005t0017g0146	6	406	0.0148	0	c.-10 others(6): Show c.-104-2A>G		PVALEF	ENSG00000225180.8	transcript	ENST00000637878.2	protein_coding	3/6					chr17	TogoVar
PYGL_chr14_50900217_50949483	50911872	CT CT	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(250): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0015 a0001c0017 a0001c0021 a0002c0004 a0002c0008 a0002c0016 a0003c0010 a0003c0019 a0004c0011 a0004c0022 a0005c0013 a0007c0020 a0008c0023	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(26): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0005t0002 a0001c0006t0001 a0001c0006t0002 a0001c0007t0001 a0001c0007t0002 a0001c0009t0002 a0001c0009t0003 a0001c0012t0002 a0001c0015t0003 a0001c0017t0002 a0001c0021t0002 a0002c0004t0001 a0002c0008t0001 a0002c0008t0003 a0002c0016t0003 a0003c0010t0002 a0003c0010t0003 a0003c0019t0002 a0004c0011t0002 a0004c0022t0002 a0005c0013t0002 a0007c0020t0001 a0008c0023t0002	a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 others(187): Show a0001c0001t0002g0010 a0001c0001t0002g0098 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0130 a0001c0001t0002g0157 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0270 a0001c0001t0002g0273 a0001c0001t0003g0115 a0001c0001t0003g0136 a0001c0001t0005g0289 a0001c0002t0001g0220 a0001c0002t0003g0001 a0001c0002t0003g0006 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0003g0037 a0001c0002t0003g0040 a0001c0002t0003g0042 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0048 a0001c0002t0003g0088 a0001c0002t0003g0113 a0001c0002t0003g0129 a0001c0002t0003g0169 a0001c0002t0003g0175 a0001c0002t0003g0188 a0001c0002t0003g0210 a0001c0002t0003g0214 a0001c0002t0003g0215 a0001c0002t0003g0216 a0001c0002t0003g0217 a0001c0002t0003g0218 a0001c0002t0003g0219 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0226 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0231 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0234 a0001c0002t0003g0235 a0001c0002t0003g0236 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0242 a0001c0002t0003g0243 a0001c0002t0003g0244 a0001c0002t0003g0245 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0251 a0001c0002t0003g0258 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0263 a0001c0002t0003g0264 a0001c0002t0003g0265 a0001c0002t0003g0266 a0001c0002t0003g0267 a0001c0003t0002g0007 a0001c0003t0002g0023 a0001c0003t0002g0024 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0054 a0001c0003t0002g0055 a0001c0003t0002g0062 a0001c0003t0002g0063 a0001c0003t0002g0066 a0001c0003t0002g0068 a0001c0003t0002g0079 a0001c0003t0002g0080 a0001c0003t0002g0081 a0001c0003t0002g0082 a0001c0003t0002g0083 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0005t0002g0005 a0001c0005t0002g0015 a0001c0005t0002g0041 a0001c0005t0002g0194 a0001c0005t0002g0195 a0001c0005t0002g0196 a0001c0005t0002g0197 a0001c0005t0002g0198 a0001c0005t0002g0199 a0001c0005t0002g0201 a0001c0005t0002g0202 a0001c0005t0002g0203 a0001c0005t0002g0204 a0001c0006t0001g0160 a0001c0006t0002g0011 a0001c0006t0002g0034 a0001c0006t0002g0049 a0001c0006t0002g0132 a0001c0006t0002g0140 a0001c0006t0002g0158 a0001c0006t0002g0159 a0001c0006t0002g0161 a0001c0006t0002g0174 a0001c0006t0002g0178 a0001c0006t0002g0200 a0001c0006t0002g0250 a0001c0006t0002g0271 a0001c0006t0002g0272 a0001c0007t0001g0282 a0001c0007t0002g0052 a0001c0007t0002g0274 a0001c0007t0002g0275 a0001c0007t0002g0276 a0001c0007t0002g0280 a0001c0007t0002g0281 a0001c0007t0002g0283 a0001c0007t0002g0284 a0001c0007t0002g0285 a0001c0007t0002g0286 a0001c0009t0002g0057 a0001c0009t0002g0058 a0001c0009t0002g0064 a0001c0009t0003g0067 a0001c0009t0003g0077 a0001c0009t0003g0087 a0001c0012t0002g0056 a0001c0012t0002g0072 a0001c0012t0002g0073 a0001c0015t0003g0043 a0001c0017t0002g0078 a0001c0021t0002g0278 a0002c0004t0001g0029 a0002c0004t0001g0091 a0002c0004t0001g0092 a0002c0004t0001g0093 a0002c0004t0001g0094 a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0097 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0004t0001g0101 a0002c0004t0001g0102 a0002c0004t0001g0103 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0162 a0002c0004t0001g0163 a0002c0004t0001g0164 a0002c0004t0001g0165 a0002c0004t0001g0262 a0002c0008t0001g0025 a0002c0008t0001g0026 a0002c0008t0001g0065 a0002c0008t0001g0074 a0002c0008t0001g0075 a0002c0008t0001g0076 a0002c0008t0003g0071 a0002c0016t0003g0070 a0003c0010t0002g0020 a0003c0010t0002g0060 a0003c0010t0003g0021 a0003c0010t0003g0022 a0003c0010t0003g0059 a0003c0010t0003g0061 a0003c0019t0002g0269 a0004c0011t0002g0035 a0004c0011t0002g0166 a0004c0011t0002g0167 a0004c0022t0002g0277 a0005c0013t0002g0008 a0007c0020t0001g0279 a0008c0023t0002g0287	253	388	0.6521	-1	c.182 others(7): Show c.1828-2delA		PYGL	ENSG00000100504.17	transcript	ENST00000216392.8	protein_coding	15/19					chr14	TogoVar
RAMACL_chr6_166578009_166591678	166585488	TCAAACAA others(1183): Show TCAAACAAGTCTTTTTTTTTTTTTTTTTTTTTCCTTATTTTACAGCTTTA TTACTGATTTCCCTCTAAAAAGAGACTCAAGTGTGGAGCTGACTCATCTA TAGATTAAGGAATCACAAAGTACCATAGTCACTTAACAAATGCAAAAAAA AAAAAAAGCAATTGTTTTACCTTTCAACTGCTGATGTTATGTACAATCTA TCACAAAAAGCATAGCTGTGCATTCATGAGCTGATTATATCAACCTCTAG AATTTTAGAAACGAGCACATCTAAGCATATGGATACTCTCTTACCTTACA AAGTAAAAGCATTTTCTATTTTAAAATTTTTATTTCTGTGTAAAACAAAG AATTCCTAGAGGTCAAATAATATACCAAACTTAAAGCACTATTAAGTCAT GAAACAAAGAAGATTCTGAGGTAGAAGTCAAGCAATATAATCCACAGTTT CAGGTATTCCCAGCAACCATCGCATTTCGCAAGTAAGATCTATTTTTTTT AAAGTCTCAACTTCCAAAAAATCAATAATCCATTCTGTAAAATCAGATGT AAAACTATGACCAACAGAAGACACCCAAACTTTTCTCATGGTAACAGAGT AAATGCTTTTACTAAAAGCTGCCAACATTTCTATCAGTAGTAACCGTAAG GAGGCCGCTGGTTGTAACCATAATGTCCATATTGCTGGGGATAGTAAGGT TCTTGTCTGTGTTGCGGGTAGTTGTTACCCCAGGATCGTCCATGCCACTG ATTGGATCGATTGTCACTTGGCCACCCCCATCTGTTGTCCCTGCCTCTGA ACTGTCTGTTGTCTTGCAACCGATTGCCTCTGTTTCTTTGGTTCCCACCA GCTCTGCTATTCCATTCCTCAACAATTGGAGGAGACTCAGGAGGGCGTTT CAGGTATTCCTGATACTCCTTGTCATTTTCTGTGAATCTACTAGCAAACA TCTCTTCAAAATTTGGAACAGCTTCGGCAGTGTCAGTCATTCTGAAAATC CCAAAGGTTTGAGGCAGCTGTATTGCTTAATGTTTAGGTTGTTTAAATCC GCCAAGGGCTATGTCTATCCAGCTCAGGCCGAACCCCGCCGGCGAGACAC TGAGAAGCCCAGGAGAGGTGGCCTCTGGTCCACTACACCGTGGAACTCCA GACCACTCCAGTTCTCCAATGTAACCGAGCGCCTTCCTCTC	T T	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG01070.hp1 HG01071.hp1 HG01167.hp1 others(40): Show HG01070.hp1 HG01071.hp1 HG01167.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0004 a0002c0000t0006 a0002c0000t0008 others(3): Show a0002c0000t0004 a0002c0000t0006 a0002c0000t0008 a0002c0000t0009 a0002c0000t0030 a0002c0000t0031	a0002c0000t0004g0000 a0002c0000t0006g0000 a0002c0000t0008g0000 others(3): Show a0002c0000t0004g0000 a0002c0000t0006g0000 a0002c0000t0008g0000 a0002c0000t0009g0000 a0002c0000t0030g0000 a0002c0000t0031g0000	43	440	0.0977	-1190	c.-20 others(9): Show c.-201_*632del	p.Met others(3): Show p.Met1fs	RAMACL	ENSG00000235272.3	transcript	ENST00000444122.3	protein_coding	1/1	1190/3670	1/357	1/118		chr6	TogoVar
RAX2_chr19_3764089_3777228	3772011	C C	CTG CTG	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02055.hp2 HG02109.hp2 HG02280.hp2 others(9): Show HG02055.hp2 HG02109.hp2 HG02280.hp2 HG02622.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG03098.hp2 HG03225.hp1 HG03486.hp2 NA18522.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0016 a0002c0002t0006	a0001c0001t0002g0014 a0001c0001t0006g0034 a0001c0001t0008g0008 others(2): Show a0001c0001t0002g0014 a0001c0001t0006g0034 a0001c0001t0008g0008 a0001c0001t0016g0018 a0002c0002t0006g0033	12	433	0.0277	2	c.-26 others(15): Show c.-268-3_-268-2dupCA		RAX2	ENSG00000173976.16	transcript	ENST00000555633.3	protein_coding	1/2					chr19	TogoVar
RBMXL2_chr11_7083998_7096148	7089456	C C	CG CG	frameshift_variant frameshift_variant	HIGH	HG00621.hp1 HG00642.hp2 HG01099.hp2 others(39): Show HG00621.hp1 HG00642.hp2 HG01099.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01884.hp1 HG01978.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02145.hp2 HG02257.hp1 HG02572.hp2 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG03098.hp2 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18956.hp1 NA18976.hp1 NA18978.hp2 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19067.hp1 NA19067.hp2 NA19078.hp1 NA19078.hp2 NA19083.hp2 NA19090.hp2 NA20129.hp1	a0003 a0005 a0008 a0003 a0005 a0008	a0003c0004 a0003c0005 a0003c0011 others(4): Show a0003c0004 a0003c0005 a0003c0011 a0003c0016 a0003c0017 a0005c0008 a0008c0015	a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 others(9): Show a0003c0004t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0005t0001 a0003c0011t0001 a0003c0016t0003 a0003c0017t0001 a0005c0008t0002 a0005c0008t0006 a0008c0015t0001	a0003c0004t0001g0000 a0003c0004t0002g0000 a0003c0004t0003g0000 others(9): Show a0003c0004t0001g0000 a0003c0004t0002g0000 a0003c0004t0003g0000 a0003c0004t0004g0000 a0003c0004t0005g0000 a0003c0005t0001g0000 a0003c0011t0001g0000 a0003c0016t0003g0000 a0003c0017t0001g0000 a0005c0008t0002g0000 a0005c0008t0006g0000 a0008c0015t0001g0000	42	458	0.0917	1	c.341 others(4): Show c.341dupG	p.Gly others(5): Show p.Gly115fs	RBMXL2	ENSG00000170748.7	transcript	ENST00000306904.7	protein_coding	1/1	465/2151	342/1179	114/392	INFO_REALIGN_3_PRIME	chr11	TogoVar
RFPL1_chr22_29433583_29447455	29441895	C C	T T	stop_gained stop_gained	HIGH	HG00642.hp2 HG01074.hp1 HG01192.hp2 others(32): Show HG00642.hp2 HG01074.hp1 HG01192.hp2 HG01255.hp1 HG01496.hp1 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02886.hp2 HG02970.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 NA18939.hp1 NA18940.hp1 NA18982.hp1 NA18983.hp1 NA19043.hp2 NA19070.hp1 NA19240.hp2 NA20805.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0003c0012 a0006c0009 a0003c0003 a0003c0012 a0006c0009	a0003c0003t0003 a0003c0012t0003 a0006c0009t0003 a0003c0003t0003 a0003c0012t0003 a0006c0009t0003	a0003c0003t0003g0005 a0003c0003t0003g0008 a0003c0003t0003g0014 others(4): Show a0003c0003t0003g0005 a0003c0003t0003g0008 a0003c0003t0003g0014 a0003c0003t0003g0021 a0003c0003t0003g0022 a0003c0012t0003g0020 a0006c0009t0003g0009	35	442	0.0792	0	c.727 others(3): Show c.727C>T	p.Gln others(4): Show p.Gln243*	RFPL1	ENSG00000128250.5	transcript	ENST00000354373.2	protein_coding	2/2	936/1496	727/954	243/317		chr22	TogoVar
RGPD4_chr2_107821892_107897544	107838282	C C	T T	stop_gained stop_gained	HIGH	HG01081.hp2 HG01167.hp2 HG02257.hp2 others(17): Show HG01081.hp2 HG01167.hp2 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp1	a0006 a0019 a0006 a0019	a0006c0007 a0006c0008 a0006c0076 others(3): Show a0006c0007 a0006c0008 a0006c0076 a0006c0077 a0019c0030 a0019c0031	a0006c0007t0005 a0006c0007t0018 a0006c0008t0005 others(5): Show a0006c0007t0005 a0006c0007t0018 a0006c0008t0005 a0006c0008t0012 a0006c0076t0005 a0006c0077t0030 a0019c0030t0014 a0019c0031t0014	a0006c0007t0005g0193 a0006c0007t0005g0194 a0006c0007t0005g0195 others(17): Show a0006c0007t0005g0193 a0006c0007t0005g0194 a0006c0007t0005g0195 a0006c0007t0005g0196 a0006c0007t0005g0197 a0006c0007t0005g0201 a0006c0007t0018g0199 a0006c0007t0018g0200 a0006c0008t0005g0205 a0006c0008t0005g0206 a0006c0008t0005g0207 a0006c0008t0005g0208 a0006c0008t0005g0209 a0006c0008t0012g0203 a0006c0008t0012g0204 a0006c0008t0012g0210 a0006c0076t0005g0192 a0006c0077t0030g0202 a0019c0030t0014g0182 a0019c0031t0014g0082	20	372	0.0538	0	c.166 others(3): Show c.166C>T	p.Arg others(3): Show p.Arg56*	RGPD4	ENSG00000196862.10	transcript	ENST00000408999.4	protein_coding	3/23	288/7212	166/5277	56/1758		chr2	TogoVar
RIMBP3B_chr22_21378751_21394478	21384098	G G	A A	stop_gained stop_gained	HIGH	HG02886.hp2 HG02886.hp2	a0035 a0035	a0035c0011 a0035c0011	a0035c0011t0002 a0035c0011t0002	a0035c0011t0002g0000 a0035c0011t0002g0000	1	118	0.0085	0	c.240 others(3): Show c.240G>A	p.Trp others(3): Show p.Trp80*	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding	1/1	348/5728	240/4920	80/1639		chr22	TogoVar
RIMBP3B_chr22_21378751_21394478	21385815	T T	TCC TCC	frameshift_variant frameshift_variant	HIGH	HG00639.hp2 HG01071.hp1 HG01168.hp1 others(9): Show HG00639.hp2 HG01071.hp1 HG01168.hp1 HG01258.hp1 HG01361.hp2 HG01884.hp1 HG02683.hp2 HG02886.hp1 HG03041.hp2 HG03130.hp2 HG03471.hp1 NA18954.hp2	a0003 a0012 a0016 others(1): Show a0003 a0012 a0016 a0034	a0003c0053 a0003c0054 a0003c0055 others(9): Show a0003c0053 a0003c0054 a0003c0055 a0003c0056 a0003c0057 a0003c0058 a0003c0059 a0003c0060 a0003c0061 a0012c0075 a0016c0026 a0034c0087	a0003c0053t0004 a0003c0054t0004 a0003c0055t0001 others(9): Show a0003c0053t0004 a0003c0054t0004 a0003c0055t0001 a0003c0056t0004 a0003c0057t0004 a0003c0058t0004 a0003c0059t0001 a0003c0060t0004 a0003c0061t0001 a0012c0075t0004 a0016c0026t0001 a0034c0087t0004	a0003c0053t0004g0000 a0003c0054t0004g0000 a0003c0055t0001g0000 others(9): Show a0003c0053t0004g0000 a0003c0054t0004g0000 a0003c0055t0001g0000 a0003c0056t0004g0000 a0003c0057t0004g0000 a0003c0058t0004g0000 a0003c0059t0001g0000 a0003c0060t0004g0000 a0003c0061t0001g0000 a0012c0075t0004g0000 a0016c0026t0001g0000 a0034c0087t0004g0000	12	118	0.1017	2	c.195 others(11): Show c.1958_1959dupCC	p.Gly others(5): Show p.Gly654fs	RIMBP3B	ENSG00000274600.2	transcript	ENST00000620804.2	protein_coding	1/1	2068/5728	1960/4920	654/1639	INFO_REALIGN_3_PRIME	chr22	TogoVar
RLN1_chr9_5329930_5344876	5339671	T T	A A	stop_gained stop_gained	HIGH	HG01099.hp2 HG02055.hp2 HG02083.hp2 others(6): Show HG01099.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02630.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG03098.hp1	a0003 a0005 a0006 a0003 a0005 a0006	a0003c0005 a0005c0007 a0006c0009 a0003c0005 a0005c0007 a0006c0009	a0003c0005t0001 a0003c0005t0006 a0005c0007t0001 others(2): Show a0003c0005t0001 a0003c0005t0006 a0005c0007t0001 a0005c0007t0003 a0006c0009t0002	a0003c0005t0001g0009 a0003c0005t0006g0016 a0005c0007t0001g0053 others(2): Show a0003c0005t0001g0009 a0003c0005t0006g0016 a0005c0007t0001g0053 a0005c0007t0003g0057 a0006c0009t0002g0029	9	446	0.0202	0	c.76A others(2): Show c.76A>T	p.Lys others(3): Show p.Lys26*	RLN1	ENSG00000107018.8	transcript	ENST00000223862.2	protein_coding	1/2	206/1009	76/558	26/185		chr9	TogoVar
RPL28_chr19_55380932_55397085	55388029	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00438.hp1 HG00597.hp1 HG00621.hp1 others(52): Show HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00741.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01433.hp1 HG01516.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02145.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02698.hp1 HG02809.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp2 HG03209.hp2 HG03579.hp1 HG03704.hp2 HG03831.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp1 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18962.hp2 NA18977.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19056.hp2 NA19060.hp2 NA19074.hp2 NA19082.hp1 NA19082.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(14): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0016 a0002c0002t0022 a0002c0002t0031 a0002c0002t0039 a0002c0002t0051 a0002c0002t0052	a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0002g0001 others(17): Show a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0002g0001 a0002c0002t0003g0001 a0002c0002t0004g0001 a0002c0002t0005g0001 a0002c0002t0006g0002 a0002c0002t0007g0003 a0002c0002t0007g0008 a0002c0002t0008g0001 a0002c0002t0009g0009 a0002c0002t0009g0019 a0002c0002t0010g0001 a0002c0002t0011g0001 a0002c0002t0016g0001 a0002c0002t0022g0001 a0002c0002t0031g0008 a0002c0002t0039g0001 a0002c0002t0051g0001 a0002c0002t0052g0011	55	309	0.1780	1	c.307 others(4): Show c.307dupC	p.Arg others(5): Show p.Arg103fs	RPL28	ENSG00000108107.15	transcript	ENST00000344063.7	protein_coding	4/5	350/4209	308/414	103/137	INFO_REALIGN_3_PRIME	chr19	TogoVar
RSC1A1_chr1_15654713_15667033	15659870	T T	C C	start_lost start_lost	HIGH	HG02886.hp2 HG02886.hp2	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0000 a0009c0009t0001g0000	1	360	0.0028	0	c.2T> others(1): Show c.2T>C	p.Met others(2): Show p.Met1?	RSC1A1	ENSG00000215695.2	transcript	ENST00000345034.2	protein_coding	1/1	158/2321	2/1854	1/617		chr1	TogoVar
RXFP2_chr13_31734526_31808389	31786554	T T	TAA TAA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00280.hp1 HG00639.hp2 others(98): Show HG00099.hp2 HG00280.hp1 HG00639.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01358.hp2 HG01496.hp1 HG01975.hp1 HG02004.hp1 HG02109.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp1 NA18950.hp1 NA18960.hp2 NA18963.hp1 NA18968.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18991.hp2 NA18994.hp2 NA19004.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0002c0012 a0003c0005 others(2): Show a0001c0001 a0002c0012 a0003c0005 a0004c0006 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0012t0002 a0003c0005t0002 a0004c0006t0001 a0006c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(95): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0365 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0217 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0004g0230 a0001c0001t0004g0231 a0001c0001t0004g0232 a0002c0012t0002g0113 a0003c0005t0002g0107 a0003c0005t0002g0228 a0003c0005t0002g0229 a0004c0006t0001g0256 a0006c0009t0001g0163	101	227	0.4449	2	c.100 others(15): Show c.1002-3_1002-2dupAA		RXFP2	ENSG00000133105.8	transcript	ENST00000298386.7	protein_coding	12/17				INFO_REALIGN_3_PRIME	chr13	TogoVar
S100G_chrX_16645158_16659670	16650997	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00733.hp1 HG01069.hp1 HG01070.hp2 others(19): Show HG00733.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01884.hp2 HG02280.hp1 HG02572.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03486.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0038 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0004g0017	22	346	0.0636	0	c.-8- others(4): Show c.-8-2A>G		S100G	ENSG00000169906.5	transcript	ENST00000380200.3	protein_coding	1/2					chrX	TogoVar
SCAPER_chr15_76342904_76910340	76883817	T T	C C	start_lost start_lost	HIGH	HG00140.hp2 HG00544.hp2 HG00597.hp1 others(114): Show HG00140.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01169.hp1 HG01175.hp1 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03688.hp2 HG03704.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp2 NA18952.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA18979.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA18998.hp2 NA19001.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0002c0003 a0002c0011 others(5): Show a0002c0002 a0002c0003 a0002c0011 a0002c0015 a0002c0022 a0002c0023 a0002c0025 a0011c0024	a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 others(9): Show a0002c0002t0002 a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0007 a0002c0003t0011 a0002c0011t0002 a0002c0015t0002 a0002c0022t0002 a0002c0023t0002 a0002c0025t0002 a0011c0024t0002	a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 others(114): Show a0002c0002t0002g0190 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0221 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0248 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0275 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0286 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0003t0002g0186 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0191 a0002c0003t0002g0192 a0002c0003t0002g0193 a0002c0003t0002g0198 a0002c0003t0002g0199 a0002c0003t0002g0200 a0002c0003t0002g0201 a0002c0003t0002g0202 a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0205 a0002c0003t0002g0206 a0002c0003t0002g0207 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0294 a0002c0003t0005g0195 a0002c0003t0006g0196 a0002c0003t0007g0249 a0002c0003t0011g0312 a0002c0011t0002g0225 a0002c0011t0002g0274 a0002c0011t0002g0285 a0002c0015t0002g0220 a0002c0015t0002g0276 a0002c0022t0002g0290 a0002c0023t0002g0228 a0002c0025t0002g0262 a0011c0024t0002g0284	117	310	0.3774	0	c.1A> others(1): Show c.1A>G	p.Met others(2): Show p.Met1?	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/32	102/5033	1/4203	1/1400		chr15	TogoVar
SCART1_chr10_133448945_133474760	133457333	TC TC	T T	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp2 HG00609.hp2 others(90): Show HG00408.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1 NA21309.hp2	a0003 a0004 a0003 a0004	a0003c0003 a0003c0007 a0003c0008 others(16): Show a0003c0003 a0003c0007 a0003c0008 a0003c0009 a0003c0024 a0003c0027 a0003c0039 a0003c0040 a0003c0041 a0004c0005 a0004c0010 a0004c0015 a0004c0019 a0004c0020 a0004c0021 a0004c0043 a0004c0057 a0004c0058 a0004c0065	a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 others(20): Show a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 a0003c0009t0003 a0003c0009t0006 a0003c0024t0003 a0003c0027t0007 a0003c0039t0003 a0003c0040t0003 a0003c0041t0006 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0010t0003 a0004c0015t0001 a0004c0019t0007 a0004c0019t0008 a0004c0020t0005 a0004c0021t0003 a0004c0043t0005 a0004c0057t0003 a0004c0058t0019 a0004c0065t0003	a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(61): Show a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0168 a0003c0007t0003g0099 a0003c0007t0003g0102 a0003c0007t0003g0104 a0003c0007t0003g0105 a0003c0007t0003g0106 a0003c0007t0003g0110 a0003c0007t0003g0112 a0003c0008t0003g0005 a0003c0008t0003g0007 a0003c0009t0003g0121 a0003c0009t0006g0024 a0003c0009t0006g0124 a0003c0024t0003g0103 a0003c0024t0003g0107 a0003c0024t0003g0137 a0003c0027t0007g0120 a0003c0027t0007g0125 a0003c0039t0003g0005 a0003c0040t0003g0127 a0003c0041t0006g0136 a0004c0005t0003g0027 a0004c0005t0003g0037 a0004c0005t0003g0054 a0004c0005t0003g0118 a0004c0005t0005g0164 a0004c0005t0005g0166 a0004c0005t0007g0144 a0004c0010t0003g0005 a0004c0010t0003g0023 a0004c0010t0003g0035 a0004c0010t0003g0095 a0004c0010t0003g0111 a0004c0015t0001g0001 a0004c0015t0001g0034 a0004c0015t0001g0073 a0004c0015t0001g0098 a0004c0019t0007g0119 a0004c0019t0008g0133 a0004c0019t0008g0134 a0004c0019t0008g0135 a0004c0020t0005g0030 a0004c0020t0005g0163 a0004c0021t0003g0100 a0004c0021t0003g0101 a0004c0021t0003g0108 a0004c0021t0003g0109 a0004c0043t0005g0165 a0004c0057t0003g0132 a0004c0058t0019g0060 a0004c0065t0003g0029	93	432	0.2153	-1	c.444 others(4): Show c.444delC	p.Glu others(5): Show p.Glu149fs	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	3/12	497/4929	444/3084	148/1027	INFO_REALIGN_3_PRIME	chr10	TogoVar
SCART1_chr10_133448945_133474760	133464740	CTGGGGTG CTGGGGTG	C C	frameshift_variant frameshift_variant	HIGH	HG00408.hp1 HG00544.hp1 HG00544.hp2 others(99): Show HG00408.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00741.hp1 HG01069.hp2 HG01175.hp1 HG01243.hp2 HG01261.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01978.hp1 HG02055.hp1 HG02109.hp1 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18965.hp1 NA18967.hp2 NA18969.hp1 NA18973.hp1 NA18975.hp1 NA18979.hp2 NA18982.hp2 NA18984.hp2 NA18988.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp1 NA19076.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20752.hp1	a0003 a0004 a0007 others(7): Show a0003 a0004 a0007 a0009 a0017 a0018 a0023 a0026 a0027 a0029	a0003c0003 a0003c0007 a0003c0008 others(24): Show a0003c0003 a0003c0007 a0003c0008 a0003c0009 a0003c0024 a0003c0027 a0003c0039 a0003c0040 a0004c0005 a0004c0010 a0004c0019 a0004c0020 a0004c0021 a0004c0043 a0004c0057 a0004c0058 a0004c0065 a0007c0016 a0007c0034 a0009c0025 a0009c0047 a0017c0060 a0018c0031 a0023c0050 a0026c0045 a0027c0033 a0029c0032	a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 others(28): Show a0003c0003t0003 a0003c0007t0003 a0003c0008t0003 a0003c0009t0003 a0003c0009t0006 a0003c0024t0003 a0003c0027t0007 a0003c0039t0003 a0003c0040t0003 a0004c0005t0003 a0004c0005t0005 a0004c0005t0007 a0004c0010t0003 a0004c0019t0007 a0004c0019t0008 a0004c0020t0005 a0004c0021t0003 a0004c0043t0005 a0004c0057t0003 a0004c0058t0019 a0004c0065t0003 a0007c0016t0004 a0007c0034t0003 a0009c0025t0003 a0009c0047t0004 a0017c0060t0003 a0018c0031t0003 a0023c0050t0004 a0026c0045t0004 a0027c0033t0004 a0029c0032t0004	a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 others(68): Show a0003c0003t0003g0005 a0003c0003t0003g0007 a0003c0003t0003g0023 a0003c0003t0003g0029 a0003c0003t0003g0035 a0003c0003t0003g0036 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0130 a0003c0003t0003g0131 a0003c0003t0003g0168 a0003c0007t0003g0099 a0003c0007t0003g0102 a0003c0007t0003g0104 a0003c0007t0003g0105 a0003c0007t0003g0106 a0003c0007t0003g0110 a0003c0007t0003g0112 a0003c0008t0003g0005 a0003c0008t0003g0007 a0003c0009t0003g0121 a0003c0009t0006g0024 a0003c0009t0006g0124 a0003c0024t0003g0103 a0003c0024t0003g0107 a0003c0024t0003g0137 a0003c0027t0007g0120 a0003c0027t0007g0125 a0003c0039t0003g0005 a0003c0040t0003g0127 a0004c0005t0003g0027 a0004c0005t0003g0037 a0004c0005t0003g0054 a0004c0005t0003g0118 a0004c0005t0005g0164 a0004c0005t0005g0166 a0004c0005t0007g0144 a0004c0010t0003g0005 a0004c0010t0003g0023 a0004c0010t0003g0035 a0004c0010t0003g0095 a0004c0010t0003g0111 a0004c0019t0007g0119 a0004c0019t0008g0133 a0004c0019t0008g0134 a0004c0019t0008g0135 a0004c0020t0005g0030 a0004c0020t0005g0163 a0004c0021t0003g0100 a0004c0021t0003g0101 a0004c0021t0003g0108 a0004c0021t0003g0109 a0004c0043t0005g0165 a0004c0057t0003g0132 a0004c0058t0019g0060 a0004c0065t0003g0029 a0007c0016t0004g0018 a0007c0016t0004g0050 a0007c0034t0003g0097 a0009c0025t0003g0031 a0009c0025t0003g0123 a0009c0047t0004g0055 a0017c0060t0003g0157 a0018c0031t0003g0122 a0023c0050t0004g0018 a0026c0045t0004g0138 a0027c0033t0004g0053 a0029c0032t0004g0018	102	431	0.2367	-7	c.211 others(16): Show c.2117_2123delTGTGGGG	p.Val others(5): Show p.Val706fs	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	7/12	2170/4929	2117/3084	706/1027	INFO_REALIGN_3_PRIME	chr10	TogoVar
SERHL2_chr22_42548956_42579382	42560267	T T	A A	splice_donor_variant others(1): Show splice_donor_variant intron_variant	HIGH	HG02630.hp2 HG02886.hp1 HG02630.hp2 HG02886.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0004 a0006c0006t0004	a0006c0006t0004g0319 a0006c0006t0004g0320 a0006c0006t0004g0319 a0006c0006t0004g0320	2	430	0.0047	0	c.613 others(5): Show c.613+2T>A		SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	8/11					chr22	TogoVar
SERPINB11_chr18_63697960_63728893	63712604	G G	T T	stop_gained stop_gained	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(200): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0004 a0013 a0001 a0004 a0013	a0001c0002 a0001c0005 a0001c0009 others(15): Show a0001c0002 a0001c0005 a0001c0009 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0032 a0004c0004 a0004c0007 a0004c0010 a0004c0017 a0004c0023 a0013c0031	a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 others(18): Show a0001c0002t0001 a0001c0005t0002 a0001c0005t0006 a0001c0009t0001 a0001c0019t0004 a0001c0020t0002 a0001c0021t0002 a0001c0022t0001 a0001c0022t0007 a0001c0027t0002 a0001c0028t0002 a0001c0029t0001 a0001c0030t0001 a0001c0032t0002 a0004c0004t0002 a0004c0004t0005 a0004c0007t0002 a0004c0010t0001 a0004c0017t0002 a0004c0023t0002 a0013c0031t0002	a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 others(79): Show a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0088 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0005t0002g0001 a0001c0005t0002g0026 a0001c0005t0002g0040 a0001c0005t0002g0042 a0001c0005t0002g0100 a0001c0005t0002g0106 a0001c0005t0002g0135 a0001c0005t0006g0001 a0001c0009t0001g0010 a0001c0009t0001g0015 a0001c0019t0004g0010 a0001c0020t0002g0001 a0001c0021t0002g0044 a0001c0021t0002g0116 a0001c0022t0001g0104 a0001c0022t0007g0001 a0001c0027t0002g0010 a0001c0028t0002g0001 a0001c0029t0001g0044 a0001c0030t0001g0001 a0001c0032t0002g0119 a0004c0004t0002g0005 a0004c0004t0002g0007 a0004c0004t0002g0016 a0004c0004t0002g0023 a0004c0004t0002g0027 a0004c0004t0002g0043 a0004c0004t0002g0096 a0004c0004t0002g0099 a0004c0004t0002g0117 a0004c0004t0002g0120 a0004c0004t0002g0121 a0004c0004t0002g0122 a0004c0004t0002g0123 a0004c0004t0002g0125 a0004c0004t0002g0132 a0004c0004t0002g0133 a0004c0004t0005g0050 a0004c0007t0002g0011 a0004c0007t0002g0022 a0004c0010t0001g0005 a0004c0010t0001g0007 a0004c0010t0001g0023 a0004c0017t0002g0118 a0004c0017t0002g0124 a0004c0023t0002g0095 a0013c0031t0002g0127	203	420	0.4833	0	c.268 others(3): Show c.268G>T	p.Glu others(3): Show p.Glu90*	SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding	4/8	330/1735	268/1179	90/392		chr18	TogoVar
SIGLEC11_chr19_49943985_49966172	49960562	TAGAA TAGAA	T T	frameshift_variant frameshift_variant	HIGH	HG00642.hp1 HG00733.hp1 HG00735.hp2 others(62): Show HG00642.hp1 HG00733.hp1 HG00735.hp2 HG01243.hp2 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03710.hp1 HG04199.hp1 HG06807.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0004 a0007 a0012 others(3): Show a0004 a0007 a0012 a0014 a0015 a0020	a0004c0004 a0004c0008 a0004c0015 others(16): Show a0004c0004 a0004c0008 a0004c0015 a0004c0021 a0004c0022 a0004c0030 a0004c0032 a0004c0039 a0007c0009 a0007c0011 a0007c0043 a0007c0044 a0007c0045 a0007c0046 a0012c0025 a0012c0028 a0014c0026 a0015c0023 a0020c0047	a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 others(18): Show a0004c0004t0001 a0004c0004t0002 a0004c0004t0005 a0004c0008t0001 a0004c0015t0001 a0004c0021t0006 a0004c0022t0001 a0004c0030t0001 a0004c0032t0001 a0004c0039t0001 a0007c0009t0003 a0007c0011t0004 a0007c0043t0004 a0007c0044t0003 a0007c0045t0003 a0007c0046t0004 a0012c0025t0001 a0012c0028t0014 a0014c0026t0001 a0015c0023t0001 a0020c0047t0001	a0004c0004t0001g0008 a0004c0004t0001g0013 a0004c0004t0001g0014 others(33): Show a0004c0004t0001g0008 a0004c0004t0001g0013 a0004c0004t0001g0014 a0004c0004t0001g0112 a0004c0004t0001g0114 a0004c0004t0001g0115 a0004c0004t0002g0041 a0004c0004t0005g0111 a0004c0008t0001g0022 a0004c0008t0001g0040 a0004c0008t0001g0042 a0004c0008t0001g0110 a0004c0015t0001g0039 a0004c0015t0001g0107 a0004c0021t0006g0108 a0004c0021t0006g0109 a0004c0022t0001g0116 a0004c0022t0001g0117 a0004c0030t0001g0056 a0004c0032t0001g0070 a0004c0039t0001g0113 a0007c0009t0003g0011 a0007c0009t0003g0144 a0007c0011t0004g0049 a0007c0011t0004g0145 a0007c0011t0004g0146 a0007c0043t0004g0141 a0007c0044t0003g0142 a0007c0045t0003g0143 a0007c0046t0004g0147 a0012c0025t0001g0048 a0012c0028t0014g0054 a0014c0026t0001g0148 a0014c0026t0001g0149 a0015c0023t0001g0043 a0020c0047t0001g0150	65	450	0.1444	-4	c.446 others(11): Show c.446_449delTTCT	p.Phe others(5): Show p.Phe149fs	SIGLEC11	ENSG00000161640.15	transcript	ENST00000447370.6	protein_coding	2/11	540/3173	446/2097	149/698		chr19	TogoVar
SIGLEC12_chr19_51486227_51506800	51501537	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp1 NA18961.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19001.hp2 NA19004.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19059.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0017	a0001c0002 a0001c0003 a0001c0005 others(23): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0012 a0001c0014 a0001c0019 a0001c0020 a0001c0029 a0001c0030 a0001c0032 a0001c0033 a0001c0034 a0001c0035 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0003c0016 a0003c0017 a0003c0025 a0003c0048 a0003c0052 a0007c0018 a0017c0031	a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 others(27): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0003t0001 a0001c0003t0003 a0001c0005t0001 a0001c0010t0002 a0001c0012t0002 a0001c0014t0003 a0001c0019t0003 a0001c0020t0001 a0001c0029t0001 a0001c0030t0003 a0001c0032t0001 a0001c0033t0001 a0001c0034t0001 a0001c0035t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0039t0001 a0001c0040t0001 a0003c0016t0001 a0003c0016t0005 a0003c0017t0006 a0003c0025t0005 a0003c0048t0001 a0003c0052t0002 a0007c0018t0001 a0017c0031t0001	a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 others(83): Show a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0033 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0064 a0001c0002t0001g0083 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0100 a0001c0002t0003g0059 a0001c0002t0003g0094 a0001c0002t0003g0095 a0001c0002t0005g0084 a0001c0002t0005g0085 a0001c0002t0005g0086 a0001c0003t0001g0005 a0001c0003t0001g0008 a0001c0003t0001g0012 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0020 a0001c0003t0001g0021 a0001c0003t0001g0022 a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0032 a0001c0003t0001g0063 a0001c0003t0001g0068 a0001c0003t0001g0069 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0077 a0001c0003t0001g0078 a0001c0003t0001g0079 a0001c0003t0001g0080 a0001c0003t0001g0081 a0001c0003t0001g0102 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0005t0001g0018 a0001c0005t0001g0019 a0001c0005t0001g0029 a0001c0005t0001g0030 a0001c0005t0001g0054 a0001c0005t0001g0055 a0001c0005t0001g0056 a0001c0010t0002g0011 a0001c0012t0002g0031 a0001c0012t0002g0066 a0001c0012t0002g0076 a0001c0014t0003g0027 a0001c0019t0003g0034 a0001c0020t0001g0035 a0001c0029t0001g0052 a0001c0030t0003g0053 a0001c0032t0001g0061 a0001c0033t0001g0062 a0001c0034t0001g0101 a0001c0035t0001g0065 a0001c0036t0001g0067 a0001c0037t0001g0082 a0001c0038t0001g0098 a0001c0039t0001g0099 a0001c0040t0001g0103 a0003c0016t0001g0156 a0003c0016t0005g0047 a0003c0017t0006g0046 a0003c0017t0006g0155 a0003c0025t0005g0048 a0003c0048t0001g0139 a0003c0052t0002g0157 a0007c0018t0001g0050 a0007c0018t0001g0051 a0017c0031t0001g0057	228	430	0.5302	1	c.196 others(4): Show c.196dupG	p.Ala others(4): Show p.Ala66fs	SIGLEC12	ENSG00000254521.7	transcript	ENST00000291707.8	protein_coding	1/8	263/2269	196/1788	66/595		chr19	TogoVar

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