Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DDX51_chr12_132131594_132149319	132134650	CCCCGAGT others(805): Show CCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTC CCACCTCCCCGAGTGTGCCCACGGTGCCCCTCCTCCCACCTCCCGAGTGT GCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCA CTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGT GCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCA CCTCTCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCCGAGTGTG CCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCT CCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGA GTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTATGCCCCGGTGCC CGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTC CCCGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCAC GGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCCGAGTGT GCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGTGCCCG CTACCTCCCACCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02280.hp1 HG02559.hp2 others(4): Show HG02145.hp2 HG02280.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02976.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0016 a0002c0002 a0002c0016	a0002c0002t0004 a0002c0016t0004 a0002c0002t0004 a0002c0016t0004	a0002c0002t0004g0004 a0002c0002t0004g0030 a0002c0016t0004g0024 a0002c0002t0004g0004 a0002c0002t0004g0030 a0002c0016t0004g0024	7	334	0.0210	-812	c.38 others(11): Show c.3810_*4621del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1943		chr12	TogoVar
JAKMIP3_chr10_132060946_132189858	132160250	ACTGTGTG others(805): Show ACTGTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTGGGGGGGGTCT ATTCCTGTGTCTTATTGAGGGGGCCTCTCCCTGTGTGATGCTGGGGAGCC TCTTCCTGTGTGATGCTGGGGGGGGTCTATTCCTGTGTCTTATTGAGGGG GCCTCTCCCTGTGTGATGCTGGGGAGCCTCTTCCTGTGTGATGCTGGGGG GGTCTCTTCCTGTGTGATGCTGGGGGACCTCTCCCTGTGTGATGCTGGGG GGGCCTCTCCCTGTGTGATGCTGGGGGGGCCTCTCCCTGTGTGATGCTGG GGGGGTCTCTTCCTGTGTGATGCTGGGGGGTCTCTTCCTGTGTGATGCTG GGGGGGGGGTCTCCCTGTGTGATGCTGGGGGGGGCCTCTTCCTGTGTGAT GCTGGTGGGGGTCTACTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTG TGATGCTGGGGGGGCCTCTCCCTGTGTGATGCTGGGGGGGTCTCTTCCTG TGTGATGCTGGGGGGTCTCTTCCTGTGTGATGCTGGGGGGGGGGTCTCCC TGTGTGATGCTGGGGGGGGCCTCTTCCTGTGTGATGCTGGTGGGGGTCTA CTTCTATGTCTTACTGGGGGGGGCCTCTCCCTGTGTGATGCAGGCGGTGG CCTCTTCCTGTGTGATGCTAGGGGGTCTCTTCCTGTGTGATGCTGGGTGG GCCTCTCCCTGTGTGATGCTGGGTGGGCCTCTCCCTGTGTGATGCTGGGG GGGGCCTCTCACTGTGTGATGCTGGGGGGGCCTCTTCCTGTGTGATGCTG GGGGCGTGTCTTT	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0004 a0004	a0004c0046 a0004c0046	a0004c0046t0007 a0004c0046t0007	a0004c0046t0007g0091 a0004c0046t0007g0091	1	158	0.0063	-812	c.222 others(19): Show c.2221-2836_2221-2025del		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	19/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
SAMD11_chr1_918923_949574	934064	AGGGGAGG others(805): Show AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCG GCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGG GAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTAC AGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTG CGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGG GGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGT GGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0064 a0001c0004t0001g0064	1	434	0.0023	-812	c.843 others(16): Show c.843-1680_843-869del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934092	AGGGGAGG others(805): Show AGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAG GTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCG TTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGGGGAGGCG GCTCCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGG GAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGGGGCGGCTGCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTC CGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGG CGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGG GGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGGT GGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTT ACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGC TCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGA GGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGC AGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAG GTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCG TTACAGGTGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00558.hp1 others(66): Show HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG01070.hp2 HG01975.hp1 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02273.hp2 HG02572.hp2 HG02683.hp1 HG02735.hp2 HG03017.hp2 HG03654.hp2 HG04115.hp1 HG04184.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18968.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18990.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19063.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19084.hp2	a0001 a0004 a0010 others(1): Show a0001 a0004 a0010 a0026	a0001c0001 a0001c0002 a0001c0021 others(6): Show a0001c0001 a0001c0002 a0001c0021 a0001c0029 a0001c0032 a0001c0033 a0004c0008 a0010c0015 a0026c0038	a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0002 a0001c0002t0009 a0001c0002t0023 a0001c0002t0026 a0001c0021t0004 a0001c0029t0002 a0001c0032t0002 a0001c0033t0002 a0004c0008t0017 a0010c0015t0002 a0026c0038t0002	a0001c0001t0001g0010 a0001c0001t0001g0138 a0001c0001t0005g0007 others(44): Show a0001c0001t0001g0010 a0001c0001t0001g0138 a0001c0001t0005g0007 a0001c0001t0005g0050 a0001c0001t0005g0122 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0136 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0027 a0001c0002t0002g0329 a0001c0002t0002g0330 a0001c0002t0002g0331 a0001c0002t0002g0332 a0001c0002t0002g0333 a0001c0002t0002g0334 a0001c0002t0002g0338 a0001c0002t0002g0339 a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0343 a0001c0002t0002g0345 a0001c0002t0002g0347 a0001c0002t0002g0348 a0001c0002t0002g0351 a0001c0002t0002g0352 a0001c0002t0002g0355 a0001c0002t0002g0356 a0001c0002t0002g0357 a0001c0002t0002g0360 a0001c0002t0002g0366 a0001c0002t0002g0367 a0001c0002t0009g0325 a0001c0002t0023g0336 a0001c0002t0026g0001 a0001c0021t0004g0328 a0001c0029t0002g0349 a0001c0032t0002g0353 a0001c0033t0002g0004 a0004c0008t0017g0354 a0010c0015t0002g0001 a0010c0015t0002g0335 a0026c0038t0002g0350	69	434	0.1590	-812	c.843 others(16): Show c.843-1667_843-856del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
TESK2_chr1_45338883_45496163	45356965	GGGTGGAT others(805): Show GGGTGGATCACCTGACATCAGGAGTTCAAGACCAGCCTGGCCAAGATGGT GAAACTCTGTCTCTGTTAAAAATACAAAAAAATTAGCTGAGCATGGTAGC AGGCGTCTGTAATCCCAGCTACTCAAGAGGCTAAGGCAGGAGAATCACTT GAACCCGGGAGGCAGAGGTAGTAGTGAGCTGAGATCGTGCCATTGCACTC CAGCCTGGGCAACAAGAGCTAAACTCCATCTCATAAATAAATAAATAAAT AAATAAATAAATAAATAAATAAATAAATGTATGTATGTATGTATGTATGT TCAGAAGGACAATGACATTCTACATGTCAGAAGGAAAGCATTCTACAAAG GAAATGACTGACAGTATCAAAAGCCATGAATGAGGAAGACGAGCTTGAAA GGTATCCACTGAATTTGCAACCAGGAAATCATTGGCAACCTTGGACAGAG CAGTTTCAGTAAAGTGGTTAAGACGAGTAAGACTGAAGTGAACAGAGGAA AGAGTAGCAGATAAGGTTATGGAGAAACTATTTGAAGATAGTCTTGCTGT TCATCATTCCTAAATACCCATGAAGGGCAGCTTTGCTTTTTTAGTAAAAA AAAAAAAAAAGAAAAAAAAGTGAATAAGGCTGGGCACGGTAGGAGGCCAA GGTGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGGGAAAGT GGCAAAATCCCGTCCCTACAAAAAATACAAAAATTGGCCAGGCACGGTAG CTCCCAGGGGTGGGATCATAGTAGCTAACACCTGTAATCCCAGCACTTTG GGAGGCCAAGGCA	G G	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18969.hp1 NA18971.hp1 others(7): Show NA18944.hp1 NA18969.hp1 NA18971.hp1 NA18984.hp2 NA18986.hp2 NA19000.hp1 NA19007.hp2 NA19067.hp1 NA19083.hp1 NA19084.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0157 a0001c0003t0005g0158 a0001c0003t0005g0159 others(7): Show a0001c0003t0005g0157 a0001c0003t0005g0158 a0001c0003t0005g0159 a0001c0003t0005g0160 a0001c0003t0005g0161 a0001c0003t0005g0162 a0001c0003t0005g0163 a0001c0003t0005g0164 a0001c0003t0005g0165 a0001c0003t0005g0263	10	286	0.0350	-812	c.394 others(17): Show c.394-2328_394-1517del		TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	4/10						chr1	TogoVar
ATP11A_chr13_112685038_112892168	112863408	CGCAGTAA others(804): Show CGCAGTAATTCAGTGCAGGCCCTGCAGCTTCCCAGCGGGGTCCATCACCA CCTGCGCAGTAATTCAGTGCAGCCCATGCAGCTTCCCAGCGGGGTCCATC ACCACGTGCGCAATAATTCAGCATAGCACGTGCAGCTTCCCAGCGGGATC CATCACCACATGGGCAGTAATTCAGTGCGGCCCATGCAGCTTCTCAGCGG GGTCCATCACCACCTGCACAGTAATTCAGTGCAGCCCATGCAGCTTCCCA GCGGGATCCATCACCACCTGCGCAGTAATTCAGTGCAGGCCTGCGCAGCT TCCCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCAGCCCATGC AGCTTCTCAGCAGGGTCCATCACCACCTGCACAGTAATTCAGTGCAGGCC ATGCAGCTTCTCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAGTGCG GCCCATGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAATTCAG TGCAGCACGTGCAGCTTCCCAGCGGGGTCCATCACCACCTGCGCAGTAAT TCAGTGCGGCCCATGCAGCTTCCCAGCGGGGTCCATCACCACGTGCACAG TAATTCAGTGCAGCACGTGCAGCTTCTCAGCAGGGTCCATCACCACCTGC ACAGTAATTCAGTGCAGGCCATGCAGCTTCTCAGCGGGGTCCATCACCAC CTGCGCAGTAATTCAGTGCAGCACGTGCAGCTTCCCAGCGGGGTCCATCA CCACCTGCGCAGTAATTCAGTGCAGCACGTGCAGCTTCCCAGCGGGGTCC ATCACCACATGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00558.hp2 others(4): Show HG00099.hp2 HG00544.hp2 HG00558.hp2 HG00733.hp1 HG02132.hp2 NA18995.hp2 NA19010.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0047 a0008c0035 a0001c0001 a0003c0047 a0008c0035	a0001c0001t0001 a0001c0001t0010 a0001c0001t0055 others(3): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0055 a0001c0001t0060 a0003c0047t0001 a0008c0035t0001	a0001c0001t0001g0225 a0001c0001t0010g0002 a0001c0001t0010g0004 others(4): Show a0001c0001t0001g0225 a0001c0001t0010g0002 a0001c0001t0010g0004 a0001c0001t0055g0161 a0001c0001t0060g0138 a0003c0047t0001g0038 a0008c0035t0001g0187	7	254	0.0276	-811	c.299 others(18): Show c.2991+849_2991+1659del		ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29					INFO_REALIGN_3_PRIME	chr13	TogoVar
CCT4_chr2_61863085_61893656	61881337	CTGTCGAA others(804): Show CTGTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGT GCTGGGATTACAGGCACGAGCCACTGCGACCAGACTGATAGAAATTTCTT TCTAATGAATTTGTTTTTGCTCATATGACTTGACACCAGGTTTATGTTTT TAATCTCCTTATTCCTCAATAGTACCACATACTATTTGTAAAATAGTATG TGGTAATTATACAAAATTTGGAAAATACAGAAAGAAATTAAAATGTGTCA ACTAAATATTTTTGAAGCAAAGACCATTAATATTTGTATACAGTATGTTG GTTTATTTCCAATCATTTTCTATTTTTTAAGTAAGCTCACAGTATATACG TAATTTTATCTTTTTTCATGTAATGTTTCATTAGTGTTTTTCCTCATAAA AATCTTCATAAACAATTTTTAATGGCTGTATGATTAACATGCTGTGGTAT ACTGTTTAAACATTTTCTTATCATTGGATATTTTGCCTATTCCAGGTTGT TTCCATTATAAATAAATTTGATCAGTATCTTTGTAAAAAAAAAAAATTTT TTAAAAGCCATCTTTACACAACTCAGAGGGATTTTTTTGATAGAAGTTCC TTTTTTTTTTTTTTGAGACGGAGTCTTACTCTGTCACCCCAAGCTGGAGT GAAGTGGGGCAATCTCGGCTCACTGCAACCTCTGCCTCCCCGGTTCAAGC AATTCTCCTGTCTCTGCCTCCGAGTAGCTGAAATTAAAGGCATGCACCAC CACGCCCAGCTGATTTTTGTATTTTTAGTAGAGATGGGGTTTCACGATGT TGGCCAGGCTGG	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19058.hp2 NA19011.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0125 a0001c0001t0001g0110 a0001c0001t0001g0125	2	414	0.0048	-811	c.270 others(16): Show c.270+1311_271-944del		CCT4	ENSG00000115484.15	transcript	ENST00000394440.8	protein_coding	3/13						chr2	TogoVar
NPIPB8_chr16_28633065_28663744	28647101	AGTTTTGA others(804): Show AGTTTTGAATGCAGTTCAACACAAATTTGTAAACTTTCTTAAAACATTAG GAGATTTTGGCCAGGTACAGTGGCTCATGCCTGTAATCCCAGCACTTTGG GAGGCTGAGGCGGGCAGATTACCTGAGGTCAGGAGTTCGAGACCACCCTG GCCAACATGGCAAAACCCCATCTCCACAAAAAATACAAAAATTTGCTGAG TGCATTGTCAGGCACCTGTACTCCCAGCTACTCAGGAGGCTGAGGCAGGA GAATCACTTGAACCTGAGAGGCCGAGGTTGCAGTGAGCCGAGAGCACGCC ACTGCACTCCAGCCTGGGTGACAGAGTGAGACCCCATCTCAAAAACAAAA CACCAAACAAAAACAAAAACAAAAAAAAATGGCTGGGCACGGTGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTAGATCGCCTGCCA GGAGTTCAAGGCCAGACTGGCCAACATGGTGAAACCTCATCTCTATTAAA AATACAAAAATGAGTCAGGCATGGTGGCAGAGACCTGTAATCTCAGCTAC TCGGGAGGCTGAGGGAGGAGAATGGCTTGAGCCCAGGAGCTGGAGGTTGC AGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCGACTGAGTGGAG CGGAACTCTGTCTCCAAAAAAAAAAAAAAAAAGAGTTTTTTTTTAGATCA TCAGCTATTGTTAGTGTTAGTGTATGTTATGTGTGGCTCAAGACAACTTT GTTTCTTTTAATATAGGCAGGGAAGTGAAAAGATTGGATATCCCTGCTTT ATACCAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02055.hp2 HG02280.hp1 others(11): Show HG01106.hp1 HG02055.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02647.hp2 HG02976.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp1 NA18522.hp1 NA20129.hp2	a0008 a0009 a0043 others(1): Show a0008 a0009 a0043 a0044	a0008c0009 a0009c0010 a0043c0055 others(1): Show a0008c0009 a0009c0010 a0043c0055 a0044c0054	a0008c0009t0003 a0009c0010t0003 a0043c0055t0003 others(1): Show a0008c0009t0003 a0009c0010t0003 a0043c0055t0003 a0044c0054t0003	a0008c0009t0003g0331 a0008c0009t0003g0332 a0008c0009t0003g0334 others(10): Show a0008c0009t0003g0331 a0008c0009t0003g0332 a0008c0009t0003g0334 a0008c0009t0003g0335 a0008c0009t0003g0336 a0008c0009t0003g0337 a0009c0010t0003g0010 a0009c0010t0003g0329 a0009c0010t0003g0338 a0009c0010t0003g0339 a0009c0010t0003g0340 a0043c0055t0003g0330 a0044c0054t0003g0333	14	351	0.0399	-811	c.121 others(16): Show c.121-1033_121-223del		NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding	2/7						chr16	TogoVar
SAMD11_chr1_918923_949574	934063	CAGGGGAG others(804): Show CAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACA GGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGC GTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGC GGCTCCGTTACAGGTGGGCAGGGGAGGCGGCTCCGTTACAGGTGGGCAGG GGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCAGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCTGCTCCGTTACAGG TGGGCGGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGG CAGGGGAGGCGGCTGCGTTACAGGTGGGCAGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0315 a0001c0002t0002g0315	1	434	0.0023	-811	c.843 others(16): Show c.843-1708_843-898del		SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13						chr1	TogoVar
ZNF7_chr8_144822560_144848772	144831636	AGCTGGGT others(804): Show AGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGA GGCACGAGAATCGCTTGAACCCTGGAGGCGGAGCTTGCAGCGAGCTGAGA TCGCACCACTGCAATCCGGCCTGGGCAACAGAGCGAGACTCCATCTAAAA AAAAAAAAAAAAAAGACTATCTTAGAATTTATAAAATATGGTAAGTACCA GGTTAGTTTTGTTTATTATAAATCACTTTTTCAGCCGGACATGGTGTTGC ATGCCTGTAGTCCCAGCTACTGGGGAGAGCGAGGAGGGAGGATTGCCTGA GCCTGGAAGGTCAAGGTTGGAGTCAGCTATGATTGTGCCACTGCAGTCCA GCCTAGGCAACAGAGTGAGACCCTGTCTAAAAAAAAAATCTTCTCTGCTT CTTTTGTGTTTGTTAACTTTGTTAGGTCAGATTTTAATGTAATTACTGTG TTTTTGCCTTATGGATTGTCTCTTTGAAGTTTTATTTAAAAGTTCTGTCC GGGCACAGTGGCTCACACCTGTAATCCCAGCGCTTTGGGAGGCCAAGGCG GGCGGATTGCCTCAAATCAGGAGTTCAAGACCAGCCTGGGCAACACAGTG AAACCCTGTCTTTATTAAAATGCAAAAAAAAAAAAAAATTAGCTGGGCAT GGCAGTGTACACCTGTAGTCCCAGCTAATTGGGAGGCTGAGGCAGGAGAA TTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGGGATTGTGCCACT GCACTCCAGCCTGGGTGACAGAGCGAGACTCTATCTCCAAAAAAAAAAAA AGTTCTTCCCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(184): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp1 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19074.hp1 NA19080.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0013 a0002c0001 a0004c0013	a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 others(49): Show a0002c0001t0001 a0002c0001t0003 a0002c0001t0004 a0002c0001t0005 a0002c0001t0007 a0002c0001t0008 a0002c0001t0009 a0002c0001t0010 a0002c0001t0011 a0002c0001t0013 a0002c0001t0014 a0002c0001t0016 a0002c0001t0017 a0002c0001t0018 a0002c0001t0021 a0002c0001t0025 a0002c0001t0028 a0002c0001t0029 a0002c0001t0033 a0002c0001t0036 a0002c0001t0038 a0002c0001t0041 a0002c0001t0046 a0002c0001t0047 a0002c0001t0049 a0002c0001t0050 a0002c0001t0051 a0002c0001t0052 a0002c0001t0053 a0002c0001t0055 a0002c0001t0057 a0002c0001t0059 a0002c0001t0062 a0002c0001t0069 a0002c0001t0071 a0002c0001t0073 a0002c0001t0074 a0002c0001t0075 a0002c0001t0076 a0002c0001t0087 a0002c0001t0094 a0002c0001t0096 a0002c0001t0100 a0002c0001t0101 a0002c0001t0102 a0002c0001t0103 a0002c0001t0105 a0002c0001t0106 a0002c0001t0107 a0002c0001t0109 a0002c0001t0111 a0004c0013t0009	a0002c0001t0001g0003 a0002c0001t0001g0005 a0002c0001t0001g0006 others(104): Show a0002c0001t0001g0003 a0002c0001t0001g0005 a0002c0001t0001g0006 a0002c0001t0001g0007 a0002c0001t0001g0009 a0002c0001t0001g0042 a0002c0001t0001g0100 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0003g0003 a0002c0001t0003g0007 a0002c0001t0003g0012 a0002c0001t0003g0033 a0002c0001t0003g0034 a0002c0001t0003g0042 a0002c0001t0003g0043 a0002c0001t0003g0103 a0002c0001t0003g0109 a0002c0001t0003g0111 a0002c0001t0003g0112 a0002c0001t0003g0122 a0002c0001t0004g0004 a0002c0001t0004g0012 a0002c0001t0004g0088 a0002c0001t0004g0118 a0002c0001t0004g0127 a0002c0001t0004g0128 a0002c0001t0004g0130 a0002c0001t0004g0184 a0002c0001t0005g0008 a0002c0001t0005g0106 a0002c0001t0005g0107 a0002c0001t0007g0126 a0002c0001t0008g0003 a0002c0001t0008g0004 a0002c0001t0008g0005 a0002c0001t0008g0007 a0002c0001t0008g0009 a0002c0001t0008g0105 a0002c0001t0008g0108 a0002c0001t0008g0110 a0002c0001t0008g0115 a0002c0001t0009g0005 a0002c0001t0009g0098 a0002c0001t0010g0004 a0002c0001t0011g0016 a0002c0001t0011g0017 a0002c0001t0011g0119 a0002c0001t0013g0009 a0002c0001t0013g0011 a0002c0001t0014g0004 a0002c0001t0014g0012 a0002c0001t0014g0131 a0002c0001t0014g0132 a0002c0001t0016g0117 a0002c0001t0017g0008 a0002c0001t0017g0009 a0002c0001t0017g0114 a0002c0001t0018g0005 a0002c0001t0018g0006 a0002c0001t0018g0097 a0002c0001t0021g0004 a0002c0001t0025g0003 a0002c0001t0025g0120 a0002c0001t0028g0003 a0002c0001t0028g0034 a0002c0001t0028g0191 a0002c0001t0029g0116 a0002c0001t0029g0121 a0002c0001t0033g0003 a0002c0001t0033g0123 a0002c0001t0033g0129 a0002c0001t0036g0004 a0002c0001t0038g0007 a0002c0001t0038g0012 a0002c0001t0041g0008 a0002c0001t0046g0004 a0002c0001t0047g0011 a0002c0001t0047g0113 a0002c0001t0049g0095 a0002c0001t0050g0005 a0002c0001t0051g0009 a0002c0001t0052g0186 a0002c0001t0053g0007 a0002c0001t0055g0006 a0002c0001t0057g0172 a0002c0001t0059g0005 a0002c0001t0062g0003 a0002c0001t0069g0007 a0002c0001t0071g0007 a0002c0001t0073g0012 a0002c0001t0074g0099 a0002c0001t0075g0004 a0002c0001t0076g0124 a0002c0001t0087g0004 a0002c0001t0094g0125 a0002c0001t0096g0094 a0002c0001t0100g0005 a0002c0001t0101g0005 a0002c0001t0102g0096 a0002c0001t0103g0185 a0002c0001t0105g0008 a0002c0001t0106g0173 a0002c0001t0107g0008 a0002c0001t0109g0171 a0002c0001t0111g0093 a0004c0013t0009g0005	187	438	0.4269	-811	c.130 others(17): Show c.130+2048_130+2858del		ZNF7	ENSG00000147789.16	transcript	ENST00000532777.6	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr8	TogoVar
CROCC2_chr2_240901336_240998311	240978536	TCTCTGGG others(803): Show TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGGCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCCGTCTCTGTGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTG CTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAG GCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGAGCCCAGACTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCTGGAGC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAAG	T T	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG00673.hp2 others(9): Show HG00558.hp2 HG00621.hp2 HG00673.hp2 HG01952.hp1 HG01981.hp1 HG02735.hp2 HG03927.hp2 HG04115.hp2 NA18612.hp1 NA18953.hp2 NA18995.hp1 NA19082.hp1	a0001 a0005 a0011 others(3): Show a0001 a0005 a0011 a0034 a0060 a0061	a0001c0001 a0005c0005 a0011c0044 others(4): Show a0001c0001 a0005c0005 a0011c0044 a0011c0080 a0034c0083 a0060c0093 a0061c0094	a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0005c0005t0001 a0005c0005t0002 a0011c0044t0002 a0011c0080t0001 a0034c0083t0001 a0060c0093t0001 a0061c0094t0001	a0001c0001t0001g0154 a0001c0001t0002g0277 a0001c0001t0002g0308 others(9): Show a0001c0001t0001g0154 a0001c0001t0002g0277 a0001c0001t0002g0308 a0001c0001t0002g0312 a0005c0005t0001g0017 a0005c0005t0001g0138 a0005c0005t0002g0321 a0011c0044t0002g0317 a0011c0080t0001g0142 a0034c0083t0001g0136 a0060c0093t0001g0054 a0061c0094t0001g0053	12	350	0.0343	-810	c.440 others(19): Show c.4402-4299_4402-3490del		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
DLGAP2_chr8_732628_1713476	1097091	TGCTCAGG others(803): Show TGCTCAGGAGAGTCAAGCTGGGAGCCCAGGGCAGGCCTTCACCCTCTGTG GCATGCAGAGGTCCCCTCCAGCGTGAGACCCAGCTCCCTCTGCTCAGGAG AGTCGAGCTGGGAGCCTAGGGCAGGCCTTCACCCTCTGTGGCATGGAGAG GTCCCCTCCAGCGTGAGACCCAGCTCCCTCTGCTCAGGAGAGTCCAGCTG GGAGCCCGGGGCAGGCCTTCACCCTCTGTGGCATGGAGGGGACCCCTCCA GCGTGAGACCCACGTCCCTGTGCTCAGTAGAGTGGAGCTGGGAGCCCGGG GCAGGCCTTCACCCTCTGTGGCATGGAGAGGACCCCTCCAGCGTGAGACC CACCTCCCTGTGCTCAGGAGAGTCAAGCTGGGAGCCTAGGGCAGGCCTTC ACCCTCTGTGGCATGGAGAGGTCCCCTCCAGCGTGAGACCCACCTCCCTC TGCTCAGTAGAGTGGAGCTGGGAGCCCGGGGCAGGCCTTCACCCTCTGTG GCATGGAGAGGTCCCCTCCAGTGTGAGACCCAGCTCCCTCTGCTCAGGAG AGTCGAGCTGGGAGCCCGGGGCAGGCCTTCACCCTCTGTGGCATGGAGAG GTCTCCTCCAGTGTGAGACCCAGCTCCCTCTGCTCAGGAGAGTCGAGCTG GGAGCCTAGGGCAGGCCTTCACCCTTTGTGGCATGGAGAGGACCCCTCCA GCGTGAGACCCACCTCCCTCTGCTCAGGAGAGTCGAGCTGGCAGCCCGGG GCAGGCCTTCACCGTCTGTGGCATGGAGAGGTCCCCTCCAGTGTGAGACC CACCTCCCTGC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp2 HG02818.hp1 others(3): Show HG00639.hp1 HG01496.hp2 HG02818.hp1 HG02976.hp1 HG03486.hp2 HG03516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0009 others(2): Show a0001c0002 a0001c0003 a0001c0009 a0002c0001 a0003c0005	a0001c0002t0001 a0001c0002t0027 a0001c0003t0001 others(3): Show a0001c0002t0001 a0001c0002t0027 a0001c0003t0001 a0001c0009t0012 a0002c0001t0002 a0003c0005t0004	a0001c0002t0001g0019 a0001c0002t0027g0023 a0001c0003t0001g0026 others(3): Show a0001c0002t0001g0019 a0001c0002t0027g0023 a0001c0003t0001g0026 a0001c0009t0012g0006 a0002c0001t0002g0032 a0003c0005t0004g0037	6	40	0.1500	-810	c.74- others(19): Show c.74-161746_74-160937del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
EPC1_chr10_32262751_32352158	32264653	TTGCCTGT others(803): Show TTGCCTGTAATCCCAGCTACTCAAGAGGCTGAGGCACGAGAATCGCTTGA ACCTGGGAGGAGGAGGCTGCAGTGAGCCGAGATCGTGCCACTGCACTCCA GCCTGGGTGACAGAGTGAGTCTCAAAAAAAAAAAGGAAAAAAAAATTCAG TCCTTTTTAGTCGAAGGCATTGTGTACTTTATCTTTTTTTTCCCTCTAAA CATTGGAGCGAGTGAATACTGTACTTGCATATAACATTTAATTCTCTCAA CAATGAACAATGTAAGTACTATTTTTCTCCCCATTTTAGACACTTAAGTT TAGGGAAGGCAAGTGACTTAAATGTGAAATCACACAGCTAGCCAGCGACA CAGCCAGGATTTGAACCATAGCTGCCTGGACCTCAGTGGTCATCTGATCA CACCTTTACACATCTACAATAGCACATGACATAGTTAATAAATATTTGTT GAATCAATGTGCTATTTATCTATTCATTCATCTATTGCTATTTCAAACTT TAAAAAAATTGTGGAACACTTGTTGAAAGAATTCTCACATGGAACACCAA CATATAACATAGACAAAAGTAGATCTGCTCTGCTGAGCATTAGTCAGGGC TGTGAAGCCCTCTGCCTACCTATCTGTAACATATTATGCATTAATATTCA TGAAAAAGGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACACTGGG AGGCCGAGGCGGCTGGATCACCTGAAGTCAGGAGTTCGAGATGAGCCTGA CTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGT GTGGTGACACG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	318	0.0031	-810	c.36 others(11): Show c.3600_*4409del		EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding					3097		chr10	TogoVar
WDR81_chr17_1719704_1743585	1740687	AGGACAGT others(803): Show AGGACAGTCAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTG GGAAGTGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAG TGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATG CAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGA GGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGC CGGACACTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGAC AGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGA GGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAGCCGGACAGTGAGGGTG GGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAAGGTGGGAAG GGGCCTGATGCAGGGAGTGAGGCGCAAGACAGTGAGGGTGGGAAGGAGCC TGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATG CAGGGAGTGAGGAGCAGGACAGTGAAGGTGGGAAGGAGCCTGATGCAGGG AGTGAGGAGCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0011 a0011	a0011c0065 a0011c0065	a0011c0065t0001 a0011c0065t0001	a0011c0065t0001g0100 a0011c0065t0001g0100	1	431	0.0023	-810	c.30 others(11): Show c.3003_*3812del		WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding					2103		chr17	TogoVar
ACAP3_chr1_1287391_1312930	1289313	CCCGTCCC others(802): Show CCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	295	0.0034	-809	c.34 others(11): Show c.3442_*4250del		ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding					3077		chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289313	CCCGTCCC others(802): Show CCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0126 a0004c0005t0006g0126	1	290	0.0035	-809	c.166 others(17): Show c.1663-950_1663-142del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	246388757	GGGACCTC others(802): Show GGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGA AGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAAATC ACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCA TTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGT AGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGG GGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAA GTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCAC CTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATT CTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTAGGGGACCTCCTTGTA GAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGG GACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAG TCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACC TCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTC TTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGA AAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGA CCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTC AGTTTCTAGA	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02027.hp1 HG02280.hp2 others(3): Show HG02004.hp2 HG02027.hp1 HG02280.hp2 HG02965.hp2 NA18965.hp2 NA18971.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0012 a0002c0005	a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0006t0001 a0001c0012t0002 a0002c0005t0001	a0001c0001t0001g0008 a0001c0001t0001g0075 a0001c0002t0002g0078 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0075 a0001c0002t0002g0078 a0001c0006t0001g0035 a0001c0012t0002g0074 a0002c0005t0001g0138	6	150	0.0400	-809	c.165 others(19): Show c.165-34472_165-33664del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11						chr1	TogoVar
TAF4_chr20_61969798_62070881	62057665	GGGGGGCC others(802): Show GGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGG GGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACAC CAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGA AGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGG GCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAG GCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGG ACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCA ACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCA CAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACG GACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACC TCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAG ACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGAC ACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTC AGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGAC AATGGGGCTC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp2 HG00597.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0066 a0001c0004t0001g0178 a0001c0001t0001g0066 a0001c0004t0001g0178	2	314	0.0064	-809	c.136 others(19): Show c.1360+5977_1360+6785del		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14						chr20	TogoVar
TAF4_chr20_61969798_62070881	62057812	CGGGGGGC others(802): Show CGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGG GGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACAC CAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGA AGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGG CCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGG CCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGG ACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCA ACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCA CAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACG GACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAAC CTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACA GACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGAC ACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCA GCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACA ATGGGGCTCG	C C	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	314	0.0032	-809	c.136 others(19): Show c.1360+5830_1360+6638del		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14						chr20	TogoVar
TAF4_chr20_61969798_62070881	62057929	TCTACACA others(802): Show TCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAA GACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGG GGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCT ACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACC TCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCT CGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGG GGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACAC CAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGG AAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGG GCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAG GCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGG ACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCC AACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCC ACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGAC GGACACAGGC	T T	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02683.hp1 NA18945.hp1 others(1): Show HG02602.hp2 HG02683.hp1 NA18945.hp1 NA18967.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0013 a0003c0036 a0001c0001 a0001c0013 a0003c0036	a0001c0001t0001 a0001c0013t0001 a0003c0036t0001 a0001c0001t0001 a0001c0013t0001 a0003c0036t0001	a0001c0001t0001g0139 a0001c0013t0001g0313 a0001c0013t0001g0314 others(1): Show a0001c0001t0001g0139 a0001c0013t0001g0313 a0001c0013t0001g0314 a0003c0036t0001g0311	4	314	0.0127	-809	c.136 others(19): Show c.1360+5713_1360+6521del		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14						chr20	TogoVar
ZNF696_chr8_143286417_143304952	143304143	CAGACTGC others(802): Show CAGACTGCACTCGCAGTCAGTGCACTGCGTCTTAGGTGTTGCTTCTGCCA ACAGCTGTCTTAGACGAGGTGGCTCTGCCAACACCTGTCTTAGACGAGGT GGCTCTGCCGGCACCTGTCTTAGACGAGGTTGCTGTGTCAAAATTCCACA GACCGACTGGCTTCACAGCAGACATTTCTTTCTCCCAGCTCTGCAGGCTG GGAGTCCAGCCTCCAGGTGCCACAGACCCAGTTCCTGTTGAGGGACCACC CCCAGCTTACGGACAGCAGCCTCTTGCTCATGTGACCGTCCCGTGTGTGC TCCTGGAGAGGAGGCTCCGGTGTCTCTTCCCATGAGGGCACTCATCTCAT CGTGAGGGTCCCCCAGGATCTTCTCTAAACCTGCTCCCCTCCCAAAGGCC CCACCTCCAACACTGTCTTGCTGGGGGTGAGGACTTTAACATGTGAACTG GAGGTGAGGGACAAGTATCCAGTCCACAGCAACCCCAACTCTGGGACCCA GTTTCTCTACTGGCACTTGCTGAGTAACCACCCACCCAGACGCCTGGTGG CTCACAGCTGCAGGGACACGGTGCTTCTGTGGCCGCAGGCGTGAGGACCC GGGTCCTGGCCTCCCTGGGGCCTGTTCCTCGGCTGTGCCCGGTTACTCAG GGCTGCTCTGGTCCTGCCTCCCCAAGGAGAGCCCTTGTGAGGTCACAGGT GCAGAAGGAAGCCCGTCCGATGCAGACGGATGTTCCAGCCAGGCGGAGAG GAGAAAATCAGTACCTAAAGCATCTGACAGAAAAGGAAAAAAAAATCCAA AATAAACCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02451.hp2 others(4): Show HG02145.hp1 HG02257.hp2 HG02451.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0039 a0001c0002t0002 a0001c0002t0039	a0001c0002t0002g0009 a0001c0002t0039g0009 a0001c0002t0002g0009 a0001c0002t0039g0009	7	434	0.0161	-809	c.73 others(11): Show c.7344_*8152del		ZNF696	ENSG00000185730.8	transcript	ENST00000330143.8	protein_coding					4192		chr8	TogoVar
ADGRA1_chr10_133082924_133136675	133135406	CCTGTTGG others(801): Show CCTGTTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGGGGTCTGGTCTC TGGGTCCCTGTGGTGGGGGGGGGTCTCTGGGTCCCTGTGGGGGCGGCTGG TCTCTGGGTCCCTGTGGGGGTGTCTGGTCTCTGGGTCCCTGTGGTGGGGG GGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTAGGGG TTCTGGTCGCTGGGTCCCTGTAGGCGGGTCTGGTCTCTGGGTCCCTGTGG GGGGGTTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGGGTCTCTGGGTCC CTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGG GTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTC TGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGTGGGTCTGGT CTCTGGGTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCAG CTGGTCTCTGGGTCCCTGTGGGGGTTTCTGGTCTCTGGGTCCCTGTGGGG GGGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTG GGGGGGTCTGGTCTCTGGGTACCTGTGGGGGCAGCTGGTCTCTGGGTCCC TGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTTGTCTCTGG GTCTCTGTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGAGGCGGCTGGTCT CTGGGTCCCTGTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGG TCTCTGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(142): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01074.hp1 HG01109.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18972.hp2 NA18975.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0024 a0001c0027 a0001c0030 a0002c0007 a0003c0029 a0004c0014 a0005c0021 a0006c0022 a0007c0020 a0008c0013 a0010c0026	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(38): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0048 a0001c0001t0064 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0014 a0001c0002t0019 a0001c0002t0033 a0001c0002t0046 a0001c0002t0062 a0001c0002t0068 a0001c0002t0069 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0003t0004 a0001c0003t0009 a0001c0003t0016 a0001c0003t0035 a0001c0003t0039 a0001c0003t0059 a0001c0003t0067 a0001c0006t0023 a0001c0024t0001 a0001c0027t0038 a0001c0030t0035 a0002c0007t0006 a0003c0029t0014 a0004c0014t0012 a0005c0021t0001 a0006c0022t0001 a0007c0020t0001 a0008c0013t0065 a0010c0026t0023	a0001c0001t0002g0065 a0001c0001t0002g0108 a0001c0001t0002g0181 others(139): Show a0001c0001t0002g0065 a0001c0001t0002g0108 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0003g0339 a0001c0001t0010g0324 a0001c0001t0013g0135 a0001c0001t0013g0136 a0001c0001t0013g0177 a0001c0001t0013g0186 a0001c0001t0016g0122 a0001c0001t0018g0040 a0001c0001t0018g0302 a0001c0001t0048g0284 a0001c0001t0064g0215 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0111 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0131 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0154 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0195 a0001c0002t0001g0198 a0001c0002t0001g0202 a0001c0002t0001g0209 a0001c0002t0001g0218 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0245 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0006g0006 a0001c0002t0006g0078 a0001c0002t0006g0082 a0001c0002t0006g0093 a0001c0002t0006g0094 a0001c0002t0006g0118 a0001c0002t0006g0141 a0001c0002t0006g0172 a0001c0002t0006g0182 a0001c0002t0006g0350 a0001c0002t0007g0271 a0001c0002t0007g0283 a0001c0002t0007g0285 a0001c0002t0007g0290 a0001c0002t0007g0301 a0001c0002t0007g0307 a0001c0002t0007g0310 a0001c0002t0007g0313 a0001c0002t0007g0316 a0001c0002t0007g0320 a0001c0002t0007g0338 a0001c0002t0008g0016 a0001c0002t0008g0017 a0001c0002t0008g0018 a0001c0002t0008g0019 a0001c0002t0008g0020 a0001c0002t0008g0021 a0001c0002t0008g0022 a0001c0002t0008g0023 a0001c0002t0008g0024 a0001c0002t0014g0081 a0001c0002t0014g0156 a0001c0002t0014g0160 a0001c0002t0014g0317 a0001c0002t0019g0057 a0001c0002t0019g0058 a0001c0002t0019g0060 a0001c0002t0019g0110 a0001c0002t0033g0129 a0001c0002t0046g0309 a0001c0002t0062g0293 a0001c0002t0068g0061 a0001c0002t0069g0153 a0001c0002t0070g0051 a0001c0002t0071g0163 a0001c0002t0072g0191 a0001c0003t0004g0170 a0001c0003t0009g0341 a0001c0003t0016g0012 a0001c0003t0016g0243 a0001c0003t0016g0247 a0001c0003t0035g0073 a0001c0003t0039g0028 a0001c0003t0059g0273 a0001c0003t0067g0258 a0001c0006t0023g0114 a0001c0024t0001g0079 a0001c0027t0038g0014 a0001c0030t0035g0221 a0002c0007t0006g0352 a0002c0007t0006g0353 a0003c0029t0014g0062 a0004c0014t0012g0140 a0005c0021t0001g0259 a0006c0022t0001g0056 a0007c0020t0001g0092 a0008c0013t0065g0257 a0010c0026t0023g0109	145	368	0.3940	-808	c.58 others(11): Show c.5896_*6703del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding					3732		chr10	TogoVar
CALM1_chr14_90392029_90413268	90410108	ACTCAGGC others(801): Show ACTCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTCACTGCAACCTTCGCC TCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACT ACAGGCGCACACCACCACGTCTGGCTAATTTTTGTATTTTTAATAGAGAC GGAGTTTCACTATGTTGGCGAGGCTGGTTTTGAACTCCTGACCTCAGGTC ATCTGTCCGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGTCAC TGTACCCAGCCCCAGATAGTCTTTTCAATATCATATCTTAGTTTTATTTT CAGTTTTACAAAGGCTAAAAGGAAAATCCAGAGTTTCCTCTAGCAATATA ATTATTTGAACATTTTGTTACAACAAGATCTTTAGATCCTGGCTGTATGT AAGCATGTTTGCTTTTAAACTGATTTTTCATTTTGAGTCTTTGTATACCC TTCAAGTTGTGATTTTTTTTAAGTTACTGCATTTTTTAGCAAAAGATAGA TTTTTTCCTGCATAGACATATCAGAATCAAGATTTGAGATAGATTGTTTT AAAAATGGAAAATAAGTAAAAAAGTAATTATAAAATCATATCTTAGTTAA AAGGAACAGGTCATATAGGTAAAACTTCCTCTGAGTGCAGGTATCCATAT CTGGTGATTCTCAAACTTGGAATACTTCTAACACTGGACATCTAATCCTG TTTCCACAAGGCAGAACTTGGGCTTTCTCCCTTTCAATGACAAGAAGTTA ATTAACAGCCCATTCCCATTTTTATTTTTATTTTTTTGAGATGGAGTCTT GCTCTGTCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0024 a0001c0001t0010g0024	1	408	0.0025	-808	c.53 others(11): Show c.5392_*6199del		CALM1	ENSG00000198668.14	transcript	ENST00000356978.9	protein_coding					1841		chr14	TogoVar
CCDC200_chr17_43216420_43233623	43232815	GGTAATGC others(801): Show GGTAATGCCAGTGCCTGGGAAGGCCCTGGTTACTTAGCAGGCCTTGGTCT AGCGGTGGCCCCAGTGCCTGGGAAGGCACCCGTTACTTAGCAGAATTACT ACGCAGCCATAAAAAAGGATGAGTTCATGACCTCTGCGGGAACGTGGAGG GAGGAAAAGGCCTCATTCTCAGCAAACTGACACAGGAAGCGAAAACAAAC ACCGCATGTTCTCGCTCCTAAGTGGGAGTTGAACAGCGAGAACACATGGG ACACAGGGAGGGGAACATCACACGCCGGGCCCTGACGGGGCGTGGGGGGC AAGGGGAGAGAGAGCATTAGGACAAATAGCCAACGCATGCGGGGCTTCAA ACCTAGACGACTGGTGGATAGGTGCAGCAAAGCACCGTGGCACACGTGTA CCTATGTTCCAAACCTGCACGTCCTGCACATGTACCCCAGAACTTGGGAG GGGGTGGGGGAAACCAAAAGAGCGAGGGAGAGGCGGGGGGGGGGAAGAGA GAGAGAGAGGGAAAGAGAGAGAGAGACAGAGAGAGGAGAGAGAGAGAGAG AGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGACGG AGAGACAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGACAGGAGAAAGAAGAACTCCGGGTGGGTCCCATTCCTTTAAA AGGTCGCCACCCACTCGACTGCCAAGCTGAGATCCTAAGGACCTCCCCAA AGGAGGAGGTCGTGGCCTTCCCAAAGCGCAGTAGCCACGGTGGAAACGAC AGCGTGCCG	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	334	0.0030	-808	c.-50 others(11): Show c.-5069_-4262del		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding					4193		chr17	TogoVar
CNN2_chr19_1021608_1044065	1034284	GACGGTGT others(801): Show GACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGT GGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGT CTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCA GCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACG GTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGA CGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGG GACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGT GGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGT CTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGA GCATGGGTGGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACA CGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGA CCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGT GGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGG TGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTATACCGGGAGCGT GGGTGGGAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02886.hp2 HG02896.hp1 others(1): Show HG02258.hp2 HG02886.hp2 HG02896.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0020 a0001c0001t0005g0256 a0001c0001t0001g0020 a0001c0001t0005g0256	4	390	0.0103	-808	c.390 others(17): Show c.390+1607_391-1020del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034390	GACGGTGT others(801): Show GACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTG TAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGG GTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCT GGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGA GCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACG GTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGG GACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACATTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCATGG GTGGGACACGGTGTCTGGTGTAGACGGTAAGCGTGGGTGGGACACGGTGT CTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGA GCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACG GTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGA CCGGGAGCGTGGGTGGGACGGTGTCTGGTGTATACCGGGAGCGTGGGTGG GACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACACGGTGTCTGG TGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACGGGGAGCGT GGGTGGGAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(73): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02145.hp2 HG02165.hp1 HG02300.hp1 HG02622.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG04115.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp1 NA18947.hp1 NA18950.hp2 NA18951.hp2 NA18956.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18984.hp1 NA18990.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19060.hp2 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19084.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0013 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0018 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0002t0004 a0001c0003t0003 a0001c0005t0007 a0001c0013t0001 a0002c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0015 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0239 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0002g0025 a0001c0001t0002g0113 a0001c0001t0002g0161 a0001c0001t0006g0001 a0001c0001t0006g0052 a0001c0001t0018g0111 a0001c0001t0018g0116 a0001c0001t0026g0001 a0001c0001t0027g0097 a0001c0001t0028g0001 a0001c0001t0029g0136 a0001c0002t0004g0025 a0001c0003t0003g0112 a0001c0005t0007g0026 a0001c0013t0001g0054 a0002c0010t0001g0001 a0002c0010t0001g0006	76	390	0.1949	-808	c.391 others(16): Show c.391-1686_391-879del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
DDX51_chr12_132131594_132149319	132135520	CGCTCCTC others(801): Show CGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCC CGAGTGTGCCCACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCC ACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGT GCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCT CCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAG TGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCC GCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCC GAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTG CCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCC ACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCC TCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGA GTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCC CGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02083.hp1 HG03017.hp2 others(1): Show HG01934.hp2 HG02083.hp1 HG03017.hp2 NA18966.hp1	a0002 a0011 a0015 a0002 a0011 a0015	a0002c0002 a0011c0019 a0015c0025 a0002c0002 a0011c0019 a0015c0025	a0002c0002t0002 a0011c0019t0002 a0015c0025t0002 a0002c0002t0002 a0011c0019t0002 a0015c0025t0002	a0002c0002t0002g0003 a0011c0019t0002g0053 a0011c0019t0002g0055 others(1): Show a0002c0002t0002g0003 a0011c0019t0002g0053 a0011c0019t0002g0055 a0015c0025t0002g0076	4	334	0.0120	-808	c.29 others(11): Show c.2944_*3751del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1073		chr12	TogoVar
DLGAP2_chr8_732628_1713476	1016751	CTGTGTGT others(801): Show CTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGAC AGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTG TGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGA CGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTG ACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGC CTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGA CCGGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCC TCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCA GGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCAC TGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGA CAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGT GTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTATGACCAGGACAG ACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTG TGTGTGACCAGGACAGACGCCTCCACTGTGTGTGACCAGGACAGACGATG CCTCCACTG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	40	0.0250	-808	c.73+ others(19): Show c.73+108808_73+109615del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
KATNBL1_chr15_34135674_34215096	34191235	ATGCTGTT others(801): Show ATGCTGTTGCATGCATGTATCAATGGTCTATTCCTTTTTATTGTTAACAG ACTGTTAACATAACAGTCTATTAGGTGGCTATACCACAATTTGTTTATTC ACCTACTGATGGACATTTGGGTTGTTTCCATTTTTCACTATTATTAGTAA AATTACTGTAAGTCATGTAAACTTGTATGAACATATGCTTTCATTTCTCA TGGGTAAATACCCAGAAGTGAAATGGCTGGGTTTTATGGTAGGTGTATGT TAAACTTTTAAAGAAAATTGCCCAACTGTTTTTACAGTGATTATACAATT TTACATTCTGATCAGCCGTGTATGAGATAGAAGAATTATTATTAATCATT GTTAATTATTTTTAGTTGAATGGTAGTGTGGTTATGTGTTTTTTTATTGT TGTTGTTGAGAGTCTTTTAGAAATCCATCCTGGCTGGGCGCAGTGGCTCA CACCTGTAATCCTAACACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGT CAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTTTCTATTA AAAACACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGC TACTTGAGAGGCTGAGGCAGGAGAATGGAGTGAACCTGGGAGGCAGAGCT TGCAGTGAGCCGAGATTGCACCACTACACTCCAGCCTGGGCCACAGAGCA CACAGTGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAATCCATCCTACA GATAAAATGAGATTACATTTAGGATTTGCACAGAATAGGGAGTATCAACG AAGTAAGAT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG04199.hp1 HG02300.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0232 a0001c0001t0002g0234	2	344	0.0058	-808	c.-15 others(19): Show c.-15+17908_-15+18715del		KATNBL1	ENSG00000134152.11	transcript	ENST00000256544.8	protein_coding	1/9						chr15	TogoVar
POMZP3_chr7_76604986_76632279	76631471	CGGAGCTT others(801): Show CGGAGCTTGCAGTTAGCCGATATGGCGCCACTGCACTCCAGCCTGGGCAA CAGAGCGAGACTCCGTCTCAAAAAAAAAACAAAAAAAAACAAAAAAAAAT GACCATTACTCAACAAGGTAAAATCTCCAATGTCTGGCATCCTGGCATCC TATTACTAGGCATATAAATAAGCAAGAAAACACAGCCCATAATAACAACC AATCAATCCTTATTTTGATCCAAACCAACCCCAAACTGACACATATTAAA ATGAACAGAGAAAGACATTAACATTAATTTTAACTATATCCCATATGTTT ACAAAGTTGAGACATGGAAAAATATTAGAAGAAATAATGGCCAAAAATTT TCCAAATGTAATGAAAAATATAAACCCACAGACCTGAAGCTCAATGTCAA GTACAAGAAATACAAAGAAAACTGTAACAAATCACATAATCAAATTGCTC AAAACCAATGATATAGATCAAATCCTGAAGGCAGCTGGGAAAATAGTACA TGTTATTTTACACAGGAACAAAGATAAGAATGATACCAAATTTCTTGCCA GAAATAGTGCAAGTGAGAGACAACAGCAGTGCAACTTGATCTTTAAAGTG CTGAAGGCAAAAACTGCAAACCTAGAATTTTATGCCCAATGAAAATATAT TTTAAGAAAGTTAAATAAACATATTTTCAGACACATAAAAGCTGGCAGAC ACTTTGAGAGGCTGAGCTGGGCAGATCGCTCGAGCCCCAGAGTTCGAGAC CAGCCTGGGCAACATAGTGAGACCCTGTCTCTAAAAAAAAAACAAAAATT AGGCCGGGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00558.hp2 others(81): Show HG00280.hp1 HG00423.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02148.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02622.hp1 HG02630.hp1 HG02698.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03471.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 NA18612.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18969.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp1 NA19054.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19070.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp2 NA20752.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0004 a0000c0002t0022 others(2): Show a0000c0002t0002 a0000c0002t0004 a0000c0002t0022 a0000c0002t0023 a0000c0002t0024	a0000c0002t0002g0003 a0000c0002t0002g0007 a0000c0002t0002g0014 others(70): Show a0000c0002t0002g0003 a0000c0002t0002g0007 a0000c0002t0002g0014 a0000c0002t0002g0015 a0000c0002t0002g0016 a0000c0002t0002g0087 a0000c0002t0002g0088 a0000c0002t0002g0089 a0000c0002t0002g0090 a0000c0002t0002g0091 a0000c0002t0002g0092 a0000c0002t0002g0093 a0000c0002t0002g0094 a0000c0002t0002g0095 a0000c0002t0002g0096 a0000c0002t0002g0097 a0000c0002t0002g0098 a0000c0002t0002g0099 a0000c0002t0002g0100 a0000c0002t0002g0101 a0000c0002t0002g0102 a0000c0002t0002g0103 a0000c0002t0002g0104 a0000c0002t0002g0105 a0000c0002t0002g0106 a0000c0002t0002g0107 a0000c0002t0002g0108 a0000c0002t0002g0109 a0000c0002t0002g0110 a0000c0002t0002g0111 a0000c0002t0002g0112 a0000c0002t0002g0113 a0000c0002t0002g0114 a0000c0002t0002g0115 a0000c0002t0002g0116 a0000c0002t0002g0117 a0000c0002t0002g0118 a0000c0002t0002g0119 a0000c0002t0002g0120 a0000c0002t0002g0121 a0000c0002t0002g0122 a0000c0002t0002g0123 a0000c0002t0002g0124 a0000c0002t0002g0125 a0000c0002t0002g0126 a0000c0002t0002g0127 a0000c0002t0002g0128 a0000c0002t0002g0129 a0000c0002t0002g0130 a0000c0002t0002g0131 a0000c0002t0002g0132 a0000c0002t0002g0133 a0000c0002t0002g0134 a0000c0002t0002g0135 a0000c0002t0002g0136 a0000c0002t0002g0137 a0000c0002t0002g0138 a0000c0002t0002g0139 a0000c0002t0002g0140 a0000c0002t0002g0141 a0000c0002t0002g0142 a0000c0002t0002g0143 a0000c0002t0002g0144 a0000c0002t0002g0145 a0000c0002t0002g0146 a0000c0002t0002g0147 a0000c0002t0002g0148 a0000c0002t0002g0149 a0000c0002t0002g0150 a0000c0002t0004g0225 a0000c0002t0022g0086 a0000c0002t0023g0151 a0000c0002t0024g0152	84	423	0.1986	-808	c.-57 others(11): Show c.-5723_-4916del		POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding					4193		chr7	TogoVar
RNFT2_chr12_116733315_116858631	116794338	TTGTAATC others(801): Show TTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCCCTTGAGGTC AGGAGTTCGAGACTAGCCTAGCCAATGTGGCAAAATCCTGTCTCTACTAA AAACACAAAAATTAGTCAGGTGTGGTGGTGCACACCTGCAATCCCAGCTA CGCGGGAGGCTGAGGTGGGAGGATTGCTTGAACCCGGGAGGGGGAGGCTG CAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAG ACTTTGTCTCAAAAAACAAAAGAAAGGAAAGAAAGGGAAGAGAAGGGGAG GGGAGGGGAGAAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGGAGGGAGG GAGGGAAGGGAAGGGAGGAAAGAAAGAAAGAAATGAATTACTCTTAGCCC AAGATCCCAGAGCTATGCTGTCTAATATAGTAGCTAAAAAAACAAAACCA GGCCTGCTTATTTCCCACCGCATGGAGTTCGGCTCGGCCACTGCCCCTGT CTCACCAATTTCACTGATGTTATTCAGGACCTGTTTGCTTACAGGGGCAA TGCTAGATCCTGAGAATATAAAAGTGAGTAAGACATCATCGTAACCTTTG TCCACTTACTTGATTCTCTGTGAATGAAACTTGGTTTTATATTAACTTAG CCCAAACCTTGGTAAGAAGGCAAATCCTCTGTCCCAGAAACATACATAGA AATATATCATATACTCCTACTTCTATAATACTAATACTAATTATTAAACA TTTGATGTGTCCACATTGCCTCTTTATGAAAATGAAGGCCGGGCCCGGTG GCTCATGCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02451.hp2 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0016 a0001c0006 a0001c0016	a0001c0006t0031 a0001c0016t0032 a0001c0006t0031 a0001c0016t0032	a0001c0006t0031g0067 a0001c0016t0032g0044 a0001c0006t0031g0067 a0001c0016t0032g0044	2	268	0.0075	-808	c.882 others(19): Show c.882+15019_882+15826del		RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
TAF4_chr20_61969798_62070881	62057960	GGGGGGCC others(801): Show GGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCCTACAC ACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAG GAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGG GGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCA GGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAA GGACGGACACAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGC CAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGC CACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGA CGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCA ACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCA CAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGG ACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCT CAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGA CAATGGGGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACA CAGGCCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCA GCAAGACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACA ATGGGGCTC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0271 a0001c0015t0001g0271	1	314	0.0032	-808	c.136 others(19): Show c.1360+5683_1360+6490del		TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14						chr20	TogoVar
ADGRA1_chr10_133082924_133136675	133135470	GGGGGGGG others(800): Show GGGGGGGGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTG TGGGGGTGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCC CTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTAGGGGTTCTGGTCGCTGGG TCCCTGTAGGCGGGTCTGGTCTCTGGGTCCCTGTGGGGGGGTTCTGGTCT CTGGGTCCCTGTGGTGGGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCT GGTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGTGGG GGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTGGG GGCGGCTGGTCTCTGGGTCCCTGTGGTGGGTCTGGTCTCTGGGTCCCTGT GGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCAGCTGGTCTCTGGGTC CCTGTGGGGGTTTCTGGTCTCTGGGTCCCTGTGGGGGGGTCTGGTCTCTG GGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTGGGGGGGTCTGGTCT CTGGGTACCTGTGGGGGCAGCTGGTCTCTGGGTCCCTGTGGGGGGGTTCT GGTCTCTGGGTCCCTGTGGGGGCGGCTTGTCTCTGGGTCTCTGTGGGGGG GTCTGGTCTCTGGGTCCCTGTGGAGGCGGCTGGTCTCTGGGTCCCTGTAG GGGTTCTGGTCTCTGGGTCCCTGTGGGCGGGTCTGGTCTCTGGGTCTGTT GGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGGGGTCTGGTCTCTGGGTC CCTGTGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG02027.hp2 others(6): Show HG00438.hp1 HG00741.hp1 HG02027.hp2 HG02056.hp2 HG02895.hp2 HG02970.hp2 NA18959.hp1 NA18967.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0013 a0001c0002t0001 a0001c0002t0006 others(3): Show a0001c0001t0013 a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0033 a0001c0006t0023	a0001c0001t0013g0137 a0001c0002t0001g0084 a0001c0002t0001g0134 others(6): Show a0001c0001t0013g0137 a0001c0002t0001g0084 a0001c0002t0001g0134 a0001c0002t0001g0152 a0001c0002t0001g0168 a0001c0002t0006g0006 a0001c0002t0008g0015 a0001c0002t0033g0127 a0001c0006t0023g0133	9	368	0.0245	-807	c.59 others(11): Show c.5960_*6766del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding					3796		chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133135551	GGGGGGGG others(800): Show GGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGT AGGGGTTCTGGTCGCTGGGTCCCTGTAGGCGGGTCTGGTCTCTGGGTCCC TGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGGGTCTCTG GGTCCCTGTTGGGGGGTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTGGTC TCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCCCTGTTGGGGGGTCTG GTCTCTGGGTCCCTGTGGGGGCGGCTGGTCTCTGGGTCCCTGTGGTGGGT CTGGTCTCTGGGTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGG GGCAGCTGGTCTCTGGGTCCCTGTGGGGGTTTCTGGTCTCTGGGTCCCTG TGGGGGGGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGTCTCTGGGTCC CTGTGGGGGGGTCTGGTCTCTGGGTACCTGTGGGGGCAGCTGGTCTCTGG GTCCCTGTGGGGGGGTTCTGGTCTCTGGGTCCCTGTGGGGGCGGCTTGTC TCTGGGTCTCTGTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGAGGCGGCT GGTCTCTGGGTCCCTGTAGGGGTTCTGGTCTCTGGGTCCCTGTGGGCGGG TCTGGTCTCTGGGTCTGTTGGGGGGGTCTGGTCTCTGGGTCCCTGTGGGG GGGGTCTGGTCTCTGGGTCCCTGTGGTGGGGGGGGGTCTCTGGGTCCCTG TGGGGGCGGCTGGTCTCTGGGTCCCTGTGGGGGTGTCTGGTCTCTGGGTC CCTGTGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0178 a0001c0001t0013g0178	1	368	0.0027	-807	c.60 others(11): Show c.6041_*6847del		ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding					3877		chr10	TogoVar
DDX51_chr12_132131594_132149319	132135131	CGCTCCTC others(800): Show CGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC CCGAGTATGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGG TGCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCACTCCTCCC ACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGC CCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTAC CTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCG AGTGTGCCCACGGTGCCCGCTACCTCCCACCTCCCGAGTGTGCCCACGGT GCCCACTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCA CCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCC ACGGTGCCCACTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAG TGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGC CCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTC CCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGT GCCCGCTCCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCAC CTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCC GGTGCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18980.hp1 NA18998.hp1 NA18948.hp2 NA18980.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0014 a0002c0002t0010g0014	3	334	0.0090	-807	c.33 others(11): Show c.3334_*4140del		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1462		chr12	TogoVar
DMD_chrX_31114222_33216549	32865282	AATATAAT others(800): Show AATATAATTATAGCATGGTGTTATAATCCTATTAATAGTGATTTTTTTGT CGTAAGTATGGTGCTGGCACAAATAAAAGATATCTTCACTGGAGAGAACA ACAGAGTGAAAATCCCTGAATAGAATATACAAGGTTGAACAGGTTATCAA CAGGTAGAAGTGTAAAGGGAAGATAAAGTCAAGCAGAGGAAACTTCACAT GCTAAGGATCAGATGAAATAGACGCACTGTTCAAGGAACTATAAGCCACT TCTTGGAACGTAAGTGGACGGATGGAACATGAGACTAGAGAGGTACAAGA CACCCCATCCGAGTGTACCGACTTGATTAACCACCCAAAGCTGCTTAGGC AAATGTCTGCTTGTCTTTTCTTTTCACCCTTTCAAACATAACTAATTTTG AGAAGCTCTTACCATGTTTTGCATTTTTTAATTCATATTTTGACTGACAC TTTAACATAGTATTGTTTAGGAAAAACCAATATTGGCACTGTTTACCAAT TATTTGCATGCAAAAATATTTGGCAAGGAAGCCATACTGTCCAGGAGCAA CTGCTGTAAATGGTAAGTTAACTACAAAATTGGGCCTAGTATTTCATCCT TTCCTGAATCCATACCCTTTGCAATGTAGCATTGCTGTTCTTCTCATGAA AAGTTGGTATCTATTTCCCTGCTTCTTAAATCTGGGTTGGCATTTGACTC ATTTTGACCAACAGAGTGCAATTGAAGTGCTGGCATTTCCTCTCCCAAAT GTAGACCTCAAAAGGGCTTGAACACTTTTGCTCTCTTGTTCATGCCTCTG CATTTACC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0012 a0003c0008t0012	a0003c0008t0012g0117 a0003c0008t0012g0117	1	126	0.0079	-807	c.94- others(17): Show c.94-16269_94-15463del		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78						chrX	TogoVar
FLT4_chr5_180596506_180654600	180635066	AAGTATGG others(800): Show AAGTATGGGTGGGAGGGTGGGTGGATGGATGGATGGATGGAAGTATGGGT GGAGGGGTGGGTGGATGGATGCATGGATGGATGGAAGGGTGGGTGGATGG ATGGATGGAAGTATGGGTGGATGGGTGGGTGGGTGGATGGATGGATGGAA GTATGGGTGGATGGGTGGGTGGGTGGATGGATGGATGGAAGTATGGGTGG ATGGGTGGGTGGGTGGATGGATGGATGGAAGTATGGGTGGATGGGTGGAT GGATGCATGGATGGATGGAAGTATGGGTGGATGGGAGGGTGGGTGGATGG ATGGATGGATGGAAGTATGGGTGGATGGGAGGGTGGGTGGATGGATGGAT GGATGGAAGTATGGGTGGATGGGAGGGTGGGTGGATGGATGGATGGAAGT ATGGGTGGATGGGTGGGTGGGTGGTGGGATGGAAGTGTGGGTGGATGGGA GGGTGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGTATGGATGGATGGATGGATGGATGGGTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGGTGGATGGATGGA TGGGTGGGTGGGTGGGTGGATGGATGGATGCATGGATGGAAGTATGGGTG GATGGGTGGGTGGGTGGGTGGATGGATGCATGGATGGAAGTATGGGTGGA TGGGTGGG	A A	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0023 a0023	a0023c0036 a0023c0036	a0023c0036t0001 a0023c0036t0001	a0023c0036t0001g0110 a0023c0036t0001g0110	1	388	0.0026	-807	c.59- others(15): Show c.59-4095_59-3289del		FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29						chr5	TogoVar
TCHH_chr1_152101317_152120444	152108268	GGTTCCTC others(800): Show GGTTCCTCCTCGAGGAATTTTCTGTCACGCTCTTGGCGGTGCAGCTGCTG TTCTTCCCTTTCCTGGAGCAGCTGTTCGTCTTCGCGGAATTTTCTGTCGC GCTCCTGGCGCAGCTGTTGTTGGCCCTCCTGGCGGCGCAGCTGCTGTTCG TCCTCCATGAATTTTCTCTCTTGTTCCTGGCGGCGCACTTTCTGTTCCTC TAAACGGAATTTTCTGTCACGCTCTTGGCGGCTCAGCTGCTGTTCCTCCC TCTCCTGGCGCAGCTGTTCCTCCTCGCGGAATTTTCTGTCACGGTCCTGA CGCCGCTGTTGCCCGCGCTCCTGGCGGCGCAGCTGCTGTTCCTCCTGGAG GAATTTTCTCTGCCGTTGCTGGCGGTGCAGCTGCTGTTCCTCCTCGAGGA ATTTTCTCTCTGGTTCCTGACTGCGCAGTTCCTGTTCGCGGAATTTTCTG TCACGCTCTTGGCGGCGCAGCTGTTGTTCCTCCTCCAGGAATTTTCTGTC ACGCTCTTGGCGGTGCAGCTGCTGTTCTTCCCTTTCCTGGAGCAGCTGTT CCTCTTCGCGGAATTTTCTGTGACGCTCCTGGCGCAGCTGCTGTTCCTCC TCCAGGAATTTTCTCTCTCGTTCCTGGCGGCGCACCTGCTGTTCCTCTTC ACGGAATTTTCTGTCACGCTCTTGGCGGCTCAGCTGCTGTTCCTCCTCGC GGAATTTTCTGTCGCGGTCCTGACGCAGCTGTTGCTCGCGCTCCTGGCAG CGCAGCTGCTGTTCCTCCTTAAGGAATTTTCTCTCCCGTTCCTGGCGGCG CAGCCGCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19060.hp2 NA19060.hp2	a0119 a0119	a0119c0096 a0119c0096	a0119c0096t0002 a0119c0096t0002	a0119c0096t0002g0110 a0119c0096t0002g0110	1	402	0.0025	-807	c.414 others(9): Show c.4142_4948del	p.Gln others(15): Show p.Gln1381_Glu1649del	TCHH	ENSG00000159450.13	transcript	ENST00000614923.2	protein_coding	3/3	5033/6985	4142/5832	1381/1943			chr1	TogoVar
AHRR_chr5_316714_443285	357841	GAGTGGAG others(799): Show GAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGG AAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGT CAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTC CACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTC AGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGA GTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAA GAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCA GCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGAGTCCA CCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAG TCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGT GGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGA GCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGTCAGC GACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACC CGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTC ACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGG AGGCCGTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGC GCCCGCA	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0219 a0001c0001t0007g0219	1	268	0.0037	-806	c.244 others(17): Show c.244+3991_244+4796del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357902	GGAGTGGA others(799): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCT CAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCG AGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGA AGAGCGCCCGCGAGTGGAGGCCGTCAGTCACGGAGTCCACCCGGGCAGTC AGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCC ACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCA GTCACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAG TGGAGGCCCTCAGACACGGAGTCCACCCGGGCAGTCAGCGACTGGGGAAG AGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAG CGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCAC CCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCGTCAGT CACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCAAGTG GAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAG CGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02965.hp1 HG03139.hp2 HG02280.hp1 HG02965.hp1 HG03139.hp2	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0001 a0004c0003 a0012c0018 a0001c0001 a0004c0003 a0012c0018	a0001c0001t0001 a0004c0003t0024 a0012c0018t0017 a0001c0001t0001 a0004c0003t0024 a0012c0018t0017	a0001c0001t0001g0017 a0004c0003t0024g0029 a0012c0018t0017g0265 a0001c0001t0001g0017 a0004c0003t0024g0029 a0012c0018t0017g0265	3	268	0.0112	-806	c.244 others(17): Show c.244+4039_244+4844del		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
CCDC146_chr7_77117615_77300204	77142678	TCTTGCGA others(799): Show TCTTGCGATAGTTTGCTGAGGATGATGGTTTCCAGCTTCATCCATGTCCC TATGAAGGACATGAACTCATCCTTTTTTATGGCTGCATAGTATTCCATGG TGTATATGTGCCACATTTTCTCAATCCAGTCTATCATTGTTGGACATTTG GGTTGGTTCCAAGTCTTTGCTATTGTGAATAGGGCTGCAATAAACATATG TGTGCATGTGTCTTTATAGCAGCATGATTTATAATCCTTTGGGTATATAC CCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCTTG AAGAATCACCACACTGTTTTCCACAATGGTTGAACTAGTTTACAGTCCCA CCAACAGTGTAAAAGTGTTCCTATTTCTACACATCCTCTCCAGCACCTGT TGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGGTAT CTCACTGTGGTTTTAATTTGCATTTCTCTGATGGCCAGTGATGAAGAGCA TTTTTTCATGTGTCTGTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTC TGTTCATATCCTTCGCCCACTTGTTGATGGGGTTGTTTGATTTTTTTCTT ATAAATTTGTTTGAGTTCTTTGTAGATTCTGGATATTAGCCCTTTGTCAG ATGAGTAGATTACAAAAATTTTCTCCCATTCTGTAGGTTGCCTCTTCACT CTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCCTTAGCTTAATTAGATC CCATTTATCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTAGACA TGAAGTC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02723.hp2 HG02818.hp2 others(4): Show HG02257.hp1 HG02723.hp2 HG02818.hp2 HG03139.hp1 HG03209.hp2 HG03516.hp2 NA19240.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0002c0022 a0005c0013 a0002c0002 a0002c0022 a0005c0013	a0002c0002t0002 a0002c0022t0001 a0002c0022t0002 others(1): Show a0002c0002t0002 a0002c0022t0001 a0002c0022t0002 a0005c0013t0001	a0002c0002t0002g0036 a0002c0022t0001g0223 a0002c0022t0002g0035 others(4): Show a0002c0002t0002g0036 a0002c0022t0001g0223 a0002c0022t0002g0035 a0005c0013t0001g0222 a0005c0013t0001g0224 a0005c0013t0001g0225 a0005c0013t0001g0226	7	248	0.0282	-806	c.-12 others(19): Show c.-12+19952_-12+20757del		CCDC146	ENSG00000135205.15	transcript	ENST00000285871.5	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
CCDC200_chr17_43216420_43233623	43232817	TAATGCCA others(799): Show TAATGCCAGTGCCTGGGAAGGCCCTGGTTACTTAGCAGGCCTTGGTCTAG CGGTGGCCCCAGTGCCTGGGAAGGCACCCGTTACTTAGCAGAATTACTAC GCAGCCATAAAAAAGGATGAGTTCATGACCTCTGCGGGAACGTGGAGGGA GGAAAAGGCCTCATTCTCAGCAAACTGACACAGGAAGCGAAAACAAACAC CGCATGTTCTCGCTCCTAAGTGGGAGTTGAACAGCGAGAACACATGGGAC ACAGGGAGGGGAACATCACACGCCGGGCCCTGACGGGGCGTGGGGGGCAA GGGGAGAGAGAGCATTAGGACAAATAGCCAACGCATGCGGGGCTTCAAAC CTAGACGACTGGTGGATAGGTGCAGCAAAGCACCGTGGCACACGTGTACC TATGTTCCAAACCTGCACGTCCTGCACATGTACCCCAGAACTTGGGAGGG GGTGGGGGAAACCAAAAGAGCGAGGGAGAGGCGGGGGGGGGGAAGAGAGA GAGAGAGGGAAAGAGAGAGAGAGACAGAGAGAGGAGAGAGAGAGAGAGAG AGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGACGGAG AGACAGAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGACAGGAGAAAGAAGAACTCCGGGTGGGTCCCATTCCTTTAAAAG GTCGCCACCCACTCGACTGCCAAGCTGAGATCCTAAGGACCTCCCCAAAG GAGGAGGTCGTGGCCTTCCCAAAGCGCAGTAGCCACGGTGGAAACGACAG CGTGCCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	334	0.0030	-806	c.-50 others(11): Show c.-5069_-4264del		CCDC200	ENSG00000236383.9	transcript	ENST00000636331.2	protein_coding					4195		chr17	TogoVar
CNN2_chr19_1021608_1044065	1034266	GACCGGGA others(799): Show GACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGT GGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGC GTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGA CACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGC GTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGGAGCATGGGTGGGACACGGTGTCTGGTGTAGACG GTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGG GACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACGGTGTCTGGTG TAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCT GGTGTAT	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	390	0.0026	-806	c.390 others(17): Show c.390+1591_391-1038del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
CNN2_chr19_1021608_1044065	1034356	CACGGTGT others(799): Show CACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCT GGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGCAGC GTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGTGGGTGGGACGGT GTCTGGTGTAGACCGGCAGCGTGGGTGGGACACGGTGTCTGGTGTAGACG GGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGA CACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTA GACCGGGAGCGTGGGTGGGACACATTGTCTGGTGTAGACCGGGAGCGTGG GTGGGACGGTGTCTGGTGTAGACCGGGAGCATGGGTGGGACACGGTGTCT GGTGTAGACGGTAAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGA GCGTGGGTGGGACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACACG GTGTCTGGTGTAGACCGGGAGCGTGGGTGGGACGGTGTCTGGTGTAGACC GGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACCGGGAGCGTGGGTGG GACGGTGTCTGGTGTATACCGGGAGCGTGGGTGGGACACGGTGTCTGGTG TAGACGGGGAGCGTGGGTGGGACACGGTGTCTGGTGTAGACGGGGAGCGT GGGTGGG	C C	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0257 a0001c0001t0005g0257	1	390	0.0026	-806	c.390 others(16): Show c.390+1679_391-950del		CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
DLGAP2_chr8_732628_1713476	1015227	CGGTGCCT others(799): Show CGGTGCCTCCACTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGT GTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTATGACCAGGACAGAC GACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG TGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGC CTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACC AGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCA CTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGAC AGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTG TGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACG ATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCC TCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGAC CAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCC ACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAG GACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACT GTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGAC AGACGAT	C C	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	40	0.0250	-806	c.73+ others(19): Show c.73+107263_73+108068del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
HDHD5_chr22_17132520_17164277	17146445	AGGCCTTC others(799): Show AGGCCTTCGATCACACGCCATCGCACACGCTCCACACCTGTGGCGCCCTC CTGTGAGCTTACCGGCCTTCAATCACACGTCATCGCACACGCCCCACACC TGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGCCATCGCAC ACGCTCCACACCTGTGGCACACTCCTGTGAGCTTACAGGCCTTCGATCAC ACGTCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCG GCCTTCAATCACACATCATCGCACACGCCCCACACCTGTGACGCCCTCCT GTGAGCTTACCGGCCTTCAATCACACGTCATCGCACACGCCCCACACCTG TGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGCCATCGCACAC GCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACAC GCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGC CTTCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGT GAGCTTACCGGCATTCGATCACACGCCATCGCACACGCCCCACACCTGTG ACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGTCATCGCACACGC CCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCTTCGATCACACGC CATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGAGCTTACCGGCCT TCGATCACACGCCATCGCACACGCCCCACACCTGTGACGCCCTCCTGTGA GCTTACC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG02071.hp2 others(6): Show HG01109.hp2 HG01167.hp1 HG02071.hp2 HG02602.hp1 HG04199.hp2 NA18952.hp1 NA18984.hp1 NA19064.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0183 a0001c0002t0001g0184 others(4): Show a0001c0002t0001g0023 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188	9	422	0.0213	-806	c.443 others(17): Show c.443+1197_444-1329del		HDHD5	ENSG00000069998.12	transcript	ENST00000336737.8	protein_coding	3/7						chr22	TogoVar
RAD52_chr12_906736_954694	919619	TGGGCGCC others(799): Show TGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCACGAGAATCGCT TGAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATAGCGCCACTGCACT CCAGCCTGGGCGACAGAGCAAGACTCTGTCTAAAAAAAAAAAAAAAAATC TGGGCTCAGCGTGGTGGCTCACGCCTGTAATCCCAACACCTTGGGAGGCC GAGGTGGGCGGATCATCTGAGGTTAAGAGTCCAAGATCAGCCTGACCAAC ATGGTGAAACCCCCTCTCTACAAAATACAAAAAATTAGCTGGGTGTGGTG GCACACACCTGTAGTCCTAGCTAGTTGGGAGGCTGAGGTAGAAGAATTGC CTGAACCTGGGAGGCAGAGATGGCAGTGAGCCGAGATCACACAATTGCAC CCCAGCCTGGGCAACAAGAGCAAAAACTCTGTCTCAAAAAAAAAAAAAAT TAGCCGGGCATGGTAGCACGCACCTGTAGTTCCAGCTACTCAGGAGGCTG AGGCAGGAGAACTGCTTGAACCCAGGAGGCAAAGGATGCAGTGAGCCAAG ATCGCACCACTGCACTCTAGCCTGGGCGGCAGAGCAAGACTCCGTCTCAA AAAAAAAAAAAAAATTGTTATAGGAGACGAGAGTATTATATAATGATAAG AATGTCAGCCAGGTGCAGTGGCTCACACCTATAATCCCAGCATTTTGGGA GGCCGAGGTGGGCAGATCACGAGGTCAGGATATCGAGACCATCCTGGCTA ACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGT AGGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(156): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 others(25): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0064 a0001c0008t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(139): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0004g0010 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0219 a0001c0001t0004g0220 a0001c0001t0004g0225 a0001c0001t0004g0322 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0331 a0001c0001t0004g0333 a0001c0001t0004g0336 a0001c0001t0004g0339 a0001c0001t0004g0340 a0001c0001t0004g0341 a0001c0001t0004g0342 a0001c0001t0004g0344 a0001c0001t0004g0350 a0001c0001t0004g0353 a0001c0001t0009g0106 a0001c0001t0009g0119 a0001c0001t0009g0124 a0001c0001t0009g0125 a0001c0001t0009g0131 a0001c0001t0009g0147 a0001c0001t0009g0149 a0001c0001t0009g0152 a0001c0001t0009g0158 a0001c0001t0009g0165 a0001c0001t0009g0171 a0001c0001t0009g0175 a0001c0001t0010g0012 a0001c0001t0010g0055 a0001c0001t0010g0056 a0001c0001t0010g0058 a0001c0001t0010g0059 a0001c0001t0010g0109 a0001c0001t0010g0110 a0001c0001t0010g0141 a0001c0001t0010g0179 a0001c0001t0010g0351 a0001c0001t0010g0352 a0001c0001t0013g0064 a0001c0001t0013g0328 a0001c0001t0013g0332 a0001c0001t0013g0334 a0001c0001t0013g0354 a0001c0001t0013g0355 a0001c0001t0016g0063 a0001c0001t0016g0080 a0001c0001t0016g0101 a0001c0001t0016g0102 a0001c0001t0016g0169 a0001c0001t0017g0221 a0001c0001t0017g0222 a0001c0001t0017g0338 a0001c0001t0017g0347 a0001c0001t0017g0348 a0001c0001t0021g0113 a0001c0001t0021g0135 a0001c0001t0021g0154 a0001c0001t0021g0173 a0001c0001t0023g0052 a0001c0001t0023g0053 a0001c0001t0023g0054 a0001c0001t0027g0156 a0001c0001t0027g0157 a0001c0001t0028g0136 a0001c0001t0028g0187 a0001c0001t0029g0335 a0001c0001t0029g0337 a0001c0001t0032g0130 a0001c0001t0032g0186 a0001c0001t0033g0060 a0001c0001t0033g0356 a0001c0001t0034g0224 a0001c0001t0035g0049 a0001c0001t0036g0127 a0001c0001t0037g0108 a0001c0001t0038g0118 a0001c0001t0039g0107 a0001c0001t0040g0123 a0001c0001t0041g0105 a0001c0001t0042g0345 a0001c0001t0043g0346 a0001c0001t0044g0330 a0001c0001t0045g0343 a0001c0001t0064g0057 a0001c0008t0004g0323	159	400	0.3975	-806	c.544 others(17): Show c.544-3605_544-2800del		RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding	7/11						chr12	TogoVar
RIPK1_chr6_3063494_3120187	3090764	ACCTACCT others(799): Show ACCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAG TAACCGCAGCGCACCTACCTGCCGCACCTAGTAACCGCAGAGTACCTACC TGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGC AGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTG CCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAG AGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGTACCT ACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAAC CGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCG	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0203 a0001c0002t0001g0203	1	340	0.0029	-806	c.915 others(17): Show c.915+1166_915+1971del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
RIPK1_chr6_3063494_3120187	3092621	CGCGCCTA others(799): Show CGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACC TAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCG CCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGT AACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCT GCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCA GAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCCTACCTGCCGCAC CTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAACCGCAGAGCGCC TACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGGAA CCGCAGA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	1	340	0.0029	-806	c.915 others(17): Show c.915+3517_915+4322del		RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC12A7_chr5_1045384_1117063	1071991	GCCCCAGT others(799): Show GCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTG AGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCA GTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCC CCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTG AGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCC CAGCACACTGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGG CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGTATCACACTTATG CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTT ATGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0043 a0001c0005t0002g0043	1	118	0.0085	-806	c.224 others(18): Show c.2241+836_2241+1641del		SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23						chr5	TogoVar

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