Joint Open Genome and Omics Platform (JoGo)

Search by Variant

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)

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
RASA3_chr13_113972783_114137623	114085481	GTCCTCGC others(965): Show GTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCC CTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGA CTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTA TCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGG AGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGT CTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCT GAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAG TGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGG GAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCC CGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAA ATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGG GGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTC GCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGT CCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCT TCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACT CCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATC GACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAG TATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCT GGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGA GTCTGGAGTATCGACTCCCTTCC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	67	0.0149	-972	c.56- others(17): Show c.56-12616_56-11645del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114085822	CCGGGGAA others(965): Show CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGG AAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCC GGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAA TCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGG GAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCG CGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTC CTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTT CGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTC CCTTCCTCCTCGCGGGGAAATCA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01981.hp2 HG03490.hp1 others(1): Show HG00621.hp1 HG01981.hp2 HG03490.hp1 HG03490.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0001c0007 a0003c0008 others(1): Show a0001c0002 a0001c0007 a0003c0008 a0004c0006	a0001c0002t0002 a0001c0007t0002 a0003c0008t0002 others(1): Show a0001c0002t0002 a0001c0007t0002 a0003c0008t0002 a0004c0006t0002	a0001c0002t0002g0056 a0001c0007t0002g0063 a0003c0008t0002g0006 others(1): Show a0001c0002t0002g0056 a0001c0007t0002g0063 a0003c0008t0002g0006 a0004c0006t0002g0053	4	67	0.0597	-972	c.56- others(17): Show c.56-12957_56-11986del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114085984	CCGGGGAA others(965): Show CCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGA GTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTC TGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTG AGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGT GCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCGGGG AAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCC GGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAA TCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGG GAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCG CGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTC CTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTT CGTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTC CCTTCCTCCTCGCGGGGAAATCA	C C	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0016 a0001c0005t0001g0016	1	67	0.0149	-972	c.56- others(17): Show c.56-13119_56-12148del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
NLGN1_chr3_173392744_174299372	173522942	TTGACTTT others(964): Show TTGACTTTGTAGTAATAGCCATTCTTATTGGTGTAGGGTTATATCACCTT GTGGTTTTAATTTGCATTTCTCTAATGATTAGTTATATTGAGCATTTTTT ATATGCATGTTGGACAGTTGTATGTCTTCTTTTGAAAAATGTCTCTTCAT GTCCTTTGCCCACATTCTAAAAAATGAGGTTATTTGTTTTTGTTGTTGTT ATTGAGATGTTTGAATTCCTTATAAATGCATAATATAAAAATATTTTCCC TCACTCTGCACATTGTCTGTTCACTGTGTCGAATATTTATTTTTCTGTGC AGAAGCTTTTTAGTATAATTAAATATCATTTGTCTATTTTTGTTTTTGTT GCATTTGCCTTTGGGATCTTCATCATACTCTTTTTGCATAGGCCCATATC CAGAAGAGTTTTCCGAGCTTTTCTTCTAGAAATTTTATAGTTTCAGGTAT TATGTTTAAATATTTTATCCATCTTGAGTTAATTTTTGTATATGATGAGA GATAAGGATCCAATTTTATTCTTTTGCATATGGCTAGCCAGTTTTCCGAT CACCATTTGTTGAATAAGATATCCTTTTCCCATTGTTTATTTTTGTCAAC TTTGTCAAAGATTAGTGGGTTATAGATATGTGGCTTTATTTCTGGGTTCT CTATTCTGTTCCGTTGGTCTGTGTGTCCATTTTTGTACCAATACCACGCT GTTTTAGTTACTATAGCCTTATACTATAATTTGAAGTCAGGTAATGTGAT GCCTCCAGATTTTTTCTTATTGTTTAGTATTGCTTTAGCTATTTAGGCTC TTTTTTGATTACATATGAAATTTTTGATTGCTTTTTATAATTCTGTGAAA AATGGCATTGACCATTTGATAGGAATTGCATTTAATCTGTAGATTGCTTT GGAGAGTATGGTCATTTTAACACTATTGATTCTTCCCATCCATGAGCATG AGATGTTTTCTCATATAATTTC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0027 a0001c0001t0015g0027	1	44	0.0227	-971	c.-32 others(21): Show c.-320-81335_-320-80365del	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
C1R_chr12_7075219_7097445	7083650	GNNNNNNN others(963): Show GNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN NNNNNNNNNNNNNNNNNNNNN	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02922.hp2 HG02451.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	2	320	0.0063	-970	c.127 others(19): Show c.1273+1241_1274-1545del	C1R	ENSG00000159403.18	transcript	ENST00000647956.2	protein_coding	9/10			chr12	TogoVar
PCGF3_chr4_700832_775089	746690	GCCCGGGG others(963): Show GCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGG GTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAG GCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	1	366	0.0027	-970	c.462 others(17): Show c.462+2010_462+2979del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKDC_chr8_47768111_47965136	47906390	TTGGGAGG others(963): Show TTGGGAGGCTGAGGAGGGCGGATCACTTGAGGTCAGGAGTTTGTGACCAC TCTGGCCAAAACAGTGAAACCTCTTCACTAATAAAAATCCAAAAATTAGC CGGGTGTGGTGGTGGTCACCTGTAACCCCAGCTACTTGGGAGGCTAAAGC AGGAAAATCGCTTGAACTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGT CCCACTGCACTCCAGACACAGTGAGATTCCGTCAAAAAAAAAAAAAGTAA AATGCTTGTGGTGGAAGTTAAGGTGAACACTCCCTACACTGATATCCTGT ACATTTCTGCCTCAGAGGCCAGGGCTTTTATAGGAGTACTGAGCCATCCA GGAGACCTTTATTCCCCACGGTTATTGAGCTCAACAATTAAGTACTTTGA TATTAGAGGTCCATACTGTAGTTAATATCACCTCAAAAATGATGCAAAAT GTCCCAGGGCTCAGACTAAACAACACAGAGACTCTTCCAAACAGTCTTTC TAGTCTTTGAAGCTATTTTTTTCCCCTAATACCTTCACTGGCCTCTATGA AGCAATTTTTAAAATTAATCAATATAAAAGGGTCTTAACTTTCAGTTTGA AAGTTTAACCTGGTCTTAAAGCATCACTTTTTTTTCCACAAAAGAATCAT ACTGGTGTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGCAGTCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTCC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCC GCCACCACGCCCGGCTAATTTTCTGTACCTTTAGTAGAGACAGGGTTTCA CCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTTGTGATCCACCCACC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTGGCC AAGAATCATACTGTTTTATTC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01081.hp2 HG01099.hp2 others(7): Show HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01358.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02300.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0013 a0002c0002 a0011c0013	a0002c0002t0001 a0011c0013t0001 a0002c0002t0001 a0011c0013t0001	a0002c0002t0001g0069 a0002c0002t0001g0075 a0002c0002t0001g0076 others(7): Show a0002c0002t0001g0069 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0102 a0011c0013t0001g0073 a0011c0013t0001g0103	10	198	0.0505	-970	c.293 others(19): Show c.2935-2384_2935-1415del	PRKDC	ENSG00000253729.9	transcript	ENST00000314191.7	protein_coding	25/85			chr8	TogoVar
RPTOR_chr17_80539838_80971368	80875740	GTGTGTGT others(963): Show GTGTGTGTGTCGCCTGCCGGGTCTTCACACCGAGCCTGTGCCACGCAGGG TGTGTGTGTCGCCTGCCGGGTCTTCCCACCGAGCCCGTGCCGCCCAGGAT GTGTGTGTCACCTGCTGGGTCTTCACACCGAGCCCGTGCCACGCAGGGTG TGTGTGTCACCTGCCAGGTCTTCCACCGAGCCCGTGCCGCCCAGGATGTG TGTGTCACCTGCTGGGTCTTCACACCGAGCCCATGCCACGCAGGGTGTGT GTGTCACCTGCCAGGTCTTCCACCGAGCCCGTGCCGCCCAGGATGTGTGT GTCACCTGCTGGGTCTTCACACCGAGCCCGTGCCACGCAGGGTGTGTGTG TCACCTGCCGGGTCTTCCACCGAGCCCGTGCTGCCCAGGATGTGTGTGTC ACCTGCCGGGTCTTCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGC CTGCCGTGTCTTCCCACCGAACCCGTGCCACGCAGGGTGTGTGTGTCGCC TGCCGGGTCTTCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTG CCGGGTCTTCACACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGC CGGGTCTTCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCG TGTCTTCCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGT GTCTTCCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTG TCTTCCCACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGTGT CTTCCCACCGAGCCTGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGGGTC TTCCACCAAGCCCCTCCGCCCAGGATGTGTGTGTCGCCTGCTGGGTCTTC ACACCGAGCCCGTGCCACGCAGGGTGTGTGTGTCGCCTGCCGGGTCTTCC ACCAAGCCCCTCCACCCAGGA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0068 a0001c0067t0068	a0001c0067t0068g0110 a0001c0067t0068g0110	1	196	0.0051	-970	c.151 others(19): Show c.1510-4649_1510-3680del	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	13/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
DIP2C_chr10_269201_694668	402398	CGTGTGGT others(962): Show CGTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTATGTG TTCATCAGCACATGAATCCTGTGATTTTACACGTGTGGTAGCATTAGCAT TACTCTTCCTTATGGACAAGTTTGGTATGTGTTCCTCAGCACATGAATCC TGTGATTTTACATGTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAA GTTTGGTACATTTTCATCAGCACATGAATCCTATGATTTTACATGAGTGG TAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTATGTGTTCATCA GCACATGAATCCTATGATTTTACATGTGTGGTAGCATTAGCATTACTCTT CCTTATGGACAAGTTTGGTATGTGTTCCTCAGCACATGAATCCTGTGATT TTACATGTGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGT ATGTGTTCATCAGCACATGAATCCTGTGATTTTACATGTGTGGTAGCATT AGCATTACTCTTCCTTATGGACAAGTTTGGTACATTTTCATCAGCACATG AATCCTGTGATTTTACATGTGTGGTAGCATTAGCATTACTCTTCCTTATG GACAAGTTTGGTACATTTTCATCAGCACATGAATCCTGTGATTTTACACA TGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGTTTGGTATGTGTT CCTCAGCACATGAATCCTGTGATTTTACATGTGTGGTAGCATTAGCATTA CTCTTCCTTATGGACAAGTTTGGTACATTTTCATCAGCACATGAATCCTA TGATTTTACATGAGTGGTAGCATTAGCATTACTCTTCCTTATGGACAAGT TTGGTATGTGTTCAGCACATGAATCCTATGATTTTACATGTGTGGTAGCA TTAGCATTACTCTTCCTTATGGACAAGTTTGGTATGTGTTCCTCAGCACA TGAATCCTGTGATTTTACAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	88	0.0114	-969	c.115 others(19): Show c.1150-4148_1150-3180del	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	9/36			chr10	TogoVar
ERC1_chr12_986223_1500931	1089863	TATTATTA others(962): Show TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCT GGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGT GCTGAGATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATT GTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCC GTTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATAT GCCTATGCCTGGCCCATTATTATTATTGTTGTTGTTGTTGAAAGTGCTGA GATTACAGGCAATATGCCTATGCCTGGCCCGTTATTATTATTATTGTTGT TGTTGAAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTAT TATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTA TGCCTGGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTA CAGGCAATATGCCTATGCCTGGCCCATTATTATTATTATTGTTGTTGTTG AAAGTGCTGAGATTACAGGCAATATGCCTATGCCTGGCCCATTATTATTA TTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGCAATATGCCTGTGCCT GGCCCATTATTATTATTATTGTTGTTGTTGAAAGTGCTGAGATTACAGGC AATATGCCTATGCCTGGCCC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02976.hp1 HG01496.hp1 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0071 a0002c0002t0042 a0001c0001t0071 a0002c0002t0042	a0001c0001t0071g0074 a0002c0002t0042g0079 a0001c0001t0071g0074 a0002c0002t0042g0079	2	162	0.0124	-969	c.108 others(19): Show c.1086+6293_1086+7261del	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
NXN_chr17_794310_984776	942088	TCCTGGAT others(962): Show TCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCA AACACCTTCCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAA TTCACCACACACCTCCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAG CCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAG GGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGTGAACAAG ATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGT GAACAAGATTCCAGGGTGCAGCCATGAATTCACCACACACCTTCCTGGAT TTACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTC CCTGGATTTACAGCGAACAAGATTCCAGGGCGCAGCCATGAACTCACATC ACACCTTCCTGGATTTACGGTGAACAAGATTCCAGGGTGCAGCCATGAAT TCACCAAACACCTTCCTGGATTTCCAGTGAACAAGATTCCAGGGTGCAGC CATGAACTCACATCACACCTTCCTGGATTTACAGCGAACAAGATTCCAGG GCGCAGCCATGAACTCACATCACACCTTCCTGGATTTACAGTGAACAAGA TTCCAGGGTGCAGCCATGAATTCACCAAACACCTCCCTGGATTTACAGTG AACAAGATTCCAGGGTGCAGCCATGAACTCACATCACACCTTCCTGGATT TACAGTGAACAAGATTCCAGGGTGCAGCCATGAATTCACCAAACACCTCC CTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACTCACATCA CACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCCATGAACT CACATCACACCTTCCTGGATTTACAGTGAACAAGATTCCAGGGTGCAGCC ATGAATTCACCAAACACCTC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	242	0.0041	-969	c.360 others(19): Show c.360+36262_360+37230del	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
VMP1_chr17_59702654_59847255	59792854	AAATAATA others(962): Show AAATAATAATAATAATAATAATAATTATTATTATTATTATCAGATGAGTG GCTGGGCATGGTGGCTTATGCCTGTAATTCCAGCACTTTGGGAGGCTGAG GTGGAAGGATCACTTGGAGCCCAGGAGTTCAAGACCAGTCTGGGCCAAAT AGTAACACCTCCATCTCTTTTTTTTTTGAGGCGAGTTTTGCTCTTGTTGC CCAGACTGGAGTGCAATGGCACAATCTTGGCTTACCACAACCTCTGCCTC CCGAGTTCAAGCAATTCTCCTGCCTCGGCCTTCCAACGTGCTAGGATTAC AGGCATGTGCCACCACACCCAGCTAATTTTCTAATTTTTTTTTTAGTAGA GATGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCCGACCTCAG TTGATCTACCTGCCTCAGCCTCCCAAAGTGCTGGGATTGTAGGCGTGAGC CACCATGCCCAGCCTCTATTAATTTTTTTAAAAAGAATTTTCAAAAATTG TCATATGAGGAGTTACTGGCTTCAGACAGGAAAAAGAAAAAGGAAATTAC TTGTGTAATATATCCGTTTACTTATTTCTATGCAGTAATAAATCTTGCAT ACTCAGATATTTTCCCTGAGTGTCTAGAGCACTTGTCCTTCTTGGGCTAC AGAGTCCGTTCTTATTTCTAGTAGGAGTTAGGCAGGCACCCACCTGAGTT TGAGTGGATGCCAGCTGCCTAAGAATTACCATGTTTGTGCGTGTGTGCAC GCGTGCGCATGTGTGTGTGTGTTTATTTATTTATTTTTTTTGAGATGGAG TCTTGCTCTGTCGCCCAGGCTGAAGTGCAGTGGCGTGATATTGTCTCACT GCGGCCTCCACCTCCCGAGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGA GTAGCTGAAATTACAGGCGAGCACCACCATGCCCGTTTAATTTTTGTGTT TTTAGTAGAGACAGGGTTTC	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(84): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp1 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03098.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03942.hp1 HG04199.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp2 NA18952.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18989.hp1 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19007.hp2 NA19057.hp1 NA19060.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19085.hp1 NA19088.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(84): Show a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0008g0279 a0001c0001t0008g0281 a0001c0001t0010g0230 a0001c0001t0012g0001 a0001c0001t0013g0218 a0001c0001t0014g0191 a0001c0002t0001g0228 a0001c0002t0001g0229	87	286	0.3042	-969	c.715 others(19): Show c.715-15940_715-14972del	VMP1	ENSG00000062716.13	transcript	ENST00000262291.9	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
ATP6V1H_chr8_53710543_53848245	53844291	ATTTATAA others(961): Show ATTTATAACCAACCCATTTTTACTCGTAAAATTAAAGTCAGAATAATCAA AATCATGCATTGATTATGAATAAAGATATATAATAACAGTGTCAAAGATT GTACTAGGTCACTCATTCTGTCTTAGCCAGAAGTGAAAGTCTGTTGTTTT GAAAGCAAATCTAAGGGGAAAAACTTTCATAAAAGAGAAAAAGAAACCGA TCGTGTACTAAGAAACTCCCAAAAGCTGAAACAGCATGTTTTCTGTGTAA CTGAGCAAAGCTGGCAGTGAGGCCTGATCTTCGCATTTCCTTTCTGTATC ACCTAAGCCACAGACTGGCGTGATACAGCGAGTCTCATCAGATTTCGGGA GGCTCTCCTCTTTTCCTAGAGGCACAAAGTTATGGAACAAAATCAGGAAC AGTGCAGTGAGCAGAGGGGACTGCTTCACAGGCACCTGGGCTGGCGTTCT CCGAGCATCACAACATTACCAGACAATTTGCCTGGAGTAGGGAGAAGAGA AGAGGCAGGTACTCCCGGCATTATCTCTCTTAACATTATTTCTGTAACAC TTCTATCGGAGATTTTTCTTGGTCCATTCAGGCTCCTGTAACAGTGCTGT AGACTGGGTGGCTTATAAACAACAGAAAGTCATTTTCTCACAGTTCTGGA GGTTGAAAGTTCAGAATTGGGGTGCTATCATGGTGAGGTTCTGGGAAGGA TTGTCCCAGGTTGCAAACTGCTGTCTTCTCATTGTAGCTTCACATGGTGG AGAGGTGAGAGAGCTCTCTGGGGTCTCTTTCATAAGGACATTAATTTCAT TCATGAGAGCTCCACCCTCATGACCTGATCATTTCCCAAAGGTCCCACCT CCTAATATCATCACCTTGGGAGTTAGGATTTCAACACAGGAATTTTGGGG AGACACAGACCATAGCGGTGATCTCAGTTACCTAATTATATAACATACCT GGGGTCCCCATACCCTGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03209.hp2 HG03471.hp1 HG02886.hp1 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0261	3	286	0.0105	-968	c.-22 others(11): Show c.-2261_-1294del	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding		1047		chr8	TogoVar
CRK_chr17_1415693_1461232	1457326	GGGCGTGA others(961): Show GGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTTGCTGGGACTGCAGGCACCCGCCACCAC GCCCGGCTAACTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTA GCCAGGCTGGTCTCGATCTCCTGACCTTGAGATCCGCCCACCTCGGCCTC CCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACTCGGCGGGGAAGGA CATTCAAAGCAAAGGGAGCAGAGTGTACCAAGCCACGTGAAGTACAGAGT TCTCTTCTCTTTTGAGGCTTTGGGGTCACCTGCCCAGATAATTCTAAACA CTAAATTGTAGCCAGGGGCATCTCCTACTCTCACTGCCCTCATGATTGCC TCTGGACTGTGTTCCTACGAGTGTCGTGCTCGCTGGTGCTCTTTCGTCTG GCTGCCCCTAATCGCACTGCAAACAACTCCCACTGAGTTTTCTAAAATAC AGATCTGGCCGGGCGCCGTGGCTCATGCCTGTAATCCCAACACTTTGGGA GGCTGTGGCTGGCAGATCACCTGAGGTCAGAAGTTCGAGACCGGGCTGAC CAATATGGTGAAGCCCGGTCTCTACTAAAAATACAAAAATTAGCCAGGTG TGTTAGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGATGAGGCAGGAGA ATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAAATCATGCCAC TGCACTCCAGCCTGGGTGACAGAGGGAGATCCTGTCTCAAAAATATATAT ATATGTATACAAATCTGAATGTGTTGCTACCTTGTGTAAAACTTTTAACA GTCTTCAGGTGTTCAAACTCCCAGTTTAGCTCAGAGCATAAAATTGGGCC ACAGTCTCTCTCTCTCTTTTTTTTTTTTTTAGATGGATTCCTGCTCTGTT GCCCAGGCTGGAGTGCAGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0370 a0001c0001t0005g0370	1	404	0.0025	-968	c.-21 others(11): Show c.-2177_-1210del	CRK	ENSG00000167193.8	transcript	ENST00000300574.3	protein_coding		1095		chr17	TogoVar
FOXQ1_chr6_1307098_1319758	1318790	GGCCGGGC others(961): Show GGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAA GGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACAT GGAGAAACCCCGTCACTACTAAAAATAAAAAATTAGCCGGGCGCGGTGGC GCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCT GAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTCAC TACTAAAAATACAAAATTAGCCGGGCATGGTGGCGCACGCCTGTAATCCC AGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAA GACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACAAAA TTAGCCGGGCATGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAGGCC AAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACCAAC ATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCGCGGTG GCGCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCAC CTGAGTTAGGAAGTTCAAGACTAGCCTGACCAACATGGAGAAACCCCGTC ACTACTAAAAATACAAAATTAGCCGGGCAGCGGTGGCGCACGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTT CAAGACTAGCCTGACCAACATGGAGAAACCCCGTCACTACTAAAAATACA AAATTAGCCGGGCGCGGTGGCGCACGCCTGTAATCCCAGCACTTTGGGAG GCCAAGGCGGGTGGATCACCTGAGTTAGGAAGTTCAAGACTAGCCTGACC AACATGGAGAAACCCCGTCACTACTAAAAATACAAAATTAGCCGGGCAGC GGTGGCGCACGCCTGTAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG01516.hp2 others(8): Show HG01070.hp1 HG01074.hp1 HG01516.hp2 HG02717.hp1 HG03017.hp2 HG03486.hp2 HG03540.hp2 HG03834.hp1 HG04184.hp1 HG04228.hp1 NA20905.hp1	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0005 a0004c0003 a0008c0009 a0002c0005 a0004c0003 a0008c0009	a0002c0005t0008 a0002c0005t0012 a0004c0003t0001 others(2): Show a0002c0005t0008 a0002c0005t0012 a0004c0003t0001 a0008c0009t0001 a0008c0009t0015	a0002c0005t0008g0000 a0002c0005t0012g0000 a0004c0003t0001g0000 others(2): Show a0002c0005t0008g0000 a0002c0005t0012g0000 a0004c0003t0001g0000 a0008c0009t0001g0000 a0008c0009t0015g0000	11	406	0.0271	-968	c.48 others(11): Show c.4875_*5842del	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		4033		chr6	TogoVar
HLA-DQB1_chr6_32654467_32671657	32657124	CATGAAGG others(961): Show CATGAAGGGGTGGCCTGCCCCTCCACACCTGTGGGTGTTTCTTGTCGGGT GGGATGAGAAACTGAGAAAAGAAAGAGACACAGAGACAAAGTATAGAGAA AGAAAAGTGGGCCCAGGGGACCGGCGCTCAGCATACTGAGGACTCACGCC GGCCCCAGTCTCTGAGTTCCCTCAGTATTTATTGATCATTATCTCTACCC TCTCGGAGAGGGAGATGTGGCAGGACAATAGGGTAATAGTGGGGAGAGAG TCAGCAGGAAAACATGTGAACAAATGTCTCTGCATCATAAATGAGGTAAA GAAAAAGGCGCTGTGCTTTTTTGTGCACATACATAAACATCTCAATGCAT TAAAGAGCAGTATTGCCACCAGCATGTCTCATTTCCAGCCCTAAGGCAGT TTTCTCCTATCTCAGTAGATAGAATATACAATCGGGTTTTAAACCGAGAC ATTCCATTGCCCAGGGACGAGCAGGAGACAGATGCCTTCCTCTTATCTCA ACTGCAAAAAGGCCTTCCTCTTTTACTAATCCTCCTCAGCACAGACCCTT TACGGGTGTCAGGCTGGGGGACAGTCAGGTCTTTCCCTTCCCACGAGGCC ATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATATCCGGCTTTC CTAGGCAGAGGTCCCTGTGGACTTCCGCAGTGTTTTGTGTCCCTGGGTAC TTGAGATTAGGGAGTGGTGATGACTTTTAACAAGCATGCTGCCTTCAAGC ATTTGTTTAACAAAGCACATCCTGCTTTGTTAAACCTTGAGTTGACACAG CATATGTTTCTGCAAGCACAGGGTTGGGGATAGGGATACAGATTAACAGC ATCTCAAGGCAGAAGAATTTTTCTTACTACAGAACAAAATGGAGTCTCTT ATGTCTACTTCTTTCTACATAGACACAGTAACAGTCTGATCTCTCTTTCT TTTCCCCACAGCTACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0002 a0004c0004t0001g0002	1	402	0.0025	-968	c.21 others(11): Show c.2144_*3111del	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding		2342		chr6	TogoVar
PCGF3_chr4_700832_775089	744682	CGAGCAGG others(961): Show CGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGT TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTG TTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCT CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCTCCGTGGAGGCGT	C C	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0301 a0002c0002t0007g0301	1	366	0.0027	-968	c.462 others(15): Show c.462+36_462+1003del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
RFX7_chr15_56082280_56248879	56155744	CCCAGAAC others(961): Show CCCAGAACTTAAAAAGTATATTTAAAAAAATGTGGAAACAAGAAAAAGTC TCCTCCCCATAATAAAAAAGGCTTTCATTCATTCATTTTTTAGATTAGTA TTTAACTTATTTTGAATTTCAAATGATATTAACCAAGAATATAATTACAT TTATCAGAATGGGGTATGGGCAAAAAATGGTTTATAAGCACCAGTTTAGA ATATACAGCCTTCATGCTCTCTTCCAGTTAACTTTTACTTTTAAAAAAAT CCAAAAACTGGTTAAAAAGTCAGCTCTAATAAGTTTACTACACATGAACC TGCAATATGCCAATCTGTTCCTCTACTTTGGGCCGTACGTAGCATTTACT CAGGAAAGTATGCAGCTTATCTTCAATTAATCTGCATTTACTGATTGTTT TAAAAAATGTTTTCCAGTGTCTGGTTACGACCCTCAACTATAATGATCCT GGTTTGTCCAAACTAAATCCACCTTTGAGGCAGAATCCTGAAAGATAAGA CACAGCCAAATGGAAACTCTTTCAATATTTTAATATCTCATTTAATTTTT AAAAATTAAAACTACAAAGTATTTCAAACACAGTAGAGAATGTGCACATG CATGCATCAATGTCCACATTTACAAGATGCTAACCTTTTGGCATGTTTGC TTCTGATCTTGGACTTAATCTATTTAACAGCATATAGAAATAGTATTCTA TGAAACAAAACCACAGTTTGTTCATGTCTCTACTGATAGACAATATGTTA TAACAAAGTTTCACTATTTCAGATGGTGCTGTAATGGAAATCCTTTATTT GTGACTCTTGTGGCCTTGTGTGAGAGTTTTTTCCTAAGGTATGTAACTTA AAAGTACAAGTGTCTGGTAACAAAGAATGTATATAGTCAACCTTATTGGA TATTTTCAAATTGCTCTCTAAAACTTATACCAATTTATGTTCCTAATAGC AATACTACAGTTTATTTCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19030.hp2 HG02572.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0240 a0001c0001t0023g0241 a0001c0001t0023g0240 a0001c0001t0023g0241	2	360	0.0056	-968	c.196 others(19): Show c.196-12229_196-11262del	RFX7	ENSG00000181827.16	transcript	ENST00000559447.8	protein_coding	3/9			chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1070549	GGCATCAC others(961): Show GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGC AGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTG AGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAG CACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCC CAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACG GTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGCA GCCCCCAGTGAGCCCCCAGCACACGGGTATCACACTTATGCAGCCCCCAG TGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCC AGCACACGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGG CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCC CCAGTGAGCCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGC CCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGA GCCCCCAGCACACGGTATCACACTTATGCAGCCCCCAGTGAGCCCCCAGC ACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCAT CACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTA TGCAGCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCC CAGTGAGCCCCCAGCACAC	G G	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	118	0.0085	-968	c.224 others(19): Show c.2241+2116_2241+3083del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
TESK2_chr1_45338883_45496163	45404574	CACTTGAT others(961): Show CACTTGATCACCCAGGCTGGATTGCAGTGGCGCGATCTTGGCTCACTGCA ACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGATTACAGGCATGCGCCACCACGCCGGGCTATTTTTGTATTTTTA TTAGAGACGGGGTTTCACTATGTTGGCCAGGTTAGTCTCGAATACCTGAA CTTAGGTGATCTGCCCACCTTGGCCTCCCAAAGTACTAGGATTACAGGCC TGAGCCACCACACCAGGCCTATTTCTATTTTAGAGATAAGAAAAATAAAG ATTAAGTGGCTCACCTAAGGGCACACAATGAGCAAATGGCGGAGTCAGGG AGTGGATTTTTACCTCTTAAACTTTAAGCTATACAGCCTCAATATATGAT ACTTCAGATTATTGTGACAGTAGTAATAACAATAATAAAAAATAGTGACA GGTAAGATTTAGTGCCTTTGTACTGTGATCAATTCTTTATGTATATTATC TAATTTAATCTTCCCATCAAGCTGATACAGCAGTACTACTATTATTTCCT ACTTCACAGGTAAGAAAACTGAGGTTATAGATATTTCACAATTTGCTCAA GATCCCCTAAATTACTACGAGGCACAACCATCCTGAATCTCTCCTTTGAA TTCCAAACTTGTTTATCCAACTGCCAAGTTGATATCTCCTGATCTCCCAT TTCCAAAACTGTTCCCCACAATGTCTCCCCAGCACAGTTACTGGCAATTC AATTCTTCCAGTTGTTCAAGTCAAAACCTAAGTAATCTGCACATGTGTAT GGTGGTTTGAAATAAAAAATGAATAAATTTAAAGTTTAAAAATTGACAAA CAAAAAACCTAATTAAGAGGCATCCTTTATGCCTCCTTCCCTTGTGCTAA TATCCCTCACCGATTTCCTCTTTAAAAAATATTCAGGGCCAGGTGCAATG GCTTACACCTGTAATCCCA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp1 HG02257.hp2 HG01891.hp1 HG02055.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0135 a0001c0001t0007g0136 a0001c0001t0007g0137 a0001c0001t0007g0135 a0001c0001t0007g0136 a0001c0001t0007g0137	3	286	0.0105	-968	c.344 others(19): Show c.344+16183_344+17150del	TESK2	ENSG00000070759.17	transcript	ENST00000372086.4	protein_coding	3/10			chr1	TogoVar
TMEM132D_chr12_129066726_129909025	129857479	GGGGGAAC others(961): Show GGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGG GTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTATAACAG AGTCCGGGGGAGCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGG TGCCCTTGTAACAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGA GTCCGGGGGAACGGGATGGCTGCCCTTGTAACAGAGTCCGGGGGAACGGG ATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTA ACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGA ACGGGATGGGTGCCCTTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCC TTGTAACGGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCG GGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGG TGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGA GTCCGGGGGAACGGGATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGG ATGGGTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTA ACGGAGTCCGGGGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGA GCGGGATGGGTGTAACAGAGTCCGGGGAAACGGGATGGGTGCCCTTGTAA CAGAGTCCAGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGGGGGAA CGGGATGGCTGCCCTTGTAACAGAGTCCGGGGGAACGGGATGGGTGCCCT TATAACAGAGTCCGGGGGAACGGGATGGGTGCCCTTGTAACGGAGTCCGG GGGAACGGGATGGGTGCCCTTATAACAGAGTCCGGGGGAACGGGATGGGT GCCCTTGTAACGGAGTCCA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02818.hp2 others(6): Show HG02280.hp1 HG02451.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03195.hp2 HG03540.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(6): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0025 a0001c0002t0001 a0001c0002t0018 a0001c0004t0006 a0002c0003t0008 a0002c0003t0026	a0001c0001t0002g0033 a0001c0001t0007g0014 a0001c0001t0012g0002 others(6): Show a0001c0001t0002g0033 a0001c0001t0007g0014 a0001c0001t0012g0002 a0001c0001t0025g0091 a0001c0002t0001g0052 a0001c0002t0018g0066 a0001c0004t0006g0049 a0002c0003t0008g0090 a0002c0003t0026g0093	9	94	0.0957	-968	c.79+ others(17): Show c.79+44814_79+45781del	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	1/8			chr12	TogoVar
CNNM2_chr10_102913294_103095222	102968293	CTGGAGTG others(960): Show CTGGAGTGCAATGGCGCAATCTCGGCTGACTGTAACCTCTGCCTCCTGGG TTCAAGTGATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGACTACAGGTG CCCAGCACCAAGCCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTT CACCATATTGACCAGGCTTGTCTCGAACTCCTAACCTTGTGATCTGCCCG CCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACCCAACCTGG TTATTTTCCACATCTTTGTCAACACTTGGCATGTGAGTTATAACCATGCT ACTGGGAGTGTAGTGCTTTTTTTTTTTTTTCTTTGAGACAGGGTCTTGCT CTGCCTCAGGCTGGTCAGTGGTGCGATTATAGCTCATTGCAACCTTGACC TCTGTGGCTCAAGTGATCCTTCCGCCTCATTGCACTGAGTAGCTGGGACT ACATACAGGTGCACGCCACCATGCCAGGCTAATTTTTTTGTAGAGACAGC ATCTGACTATGTTGCCTAGTCTGGTCTCAAACTCCTGGGCTCAAGCAATA TTCTTGCCTTGGCTTCTCAAAGTGCTGGGGTTACAGGCATGAGCCACTTG TGCCCAGCCAGTGCTGTCTTTTTTTTTTTTTTTTTTTTTGAGACAGGGTC TCACTCTGTCACCCAGGCTAGAATGCAGTGGAATGATCTTGGCTTACTGC AGTCTCCACCTCCTGGGCTCAAGTAATCCTCCCACTTAAACTTTCCGAGT AGCTGGGATTACAGGTGTGCACCACCATGCCTGGCTAATTTTTTCTATTT TTTGTAGAGACAGGGATTTGCCATGTTGTCCAGGCTAGTTTTGAACTCCT GGGCTCAAGTGATATGCCCACCTCAGCCTCCCAAAGTGCTGGGACTACAG GCATGAGCCACTGCACTGCGCCTAGTAGTGCTTTTTTTTGAGGCGGAGTC TCGCCCTGTCGCCCAGGT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0143 a0001c0003t0001g0143	1	270	0.0037	-967	c.162 others(21): Show c.1621+48206_1621+49172del	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
NCAPG2_chr7_158626169_158709804	158667328	CGCTACTG others(960): Show CGCTACTGTGTCCCTCCGCTCCTTAGCCACTACCGGATCCCTCCGCCCCC CCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCC TCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCTACCCTGTGGCCCTCCACCCGCTTACCCACTACTGGGTCCCTCCGCCC TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCC CTCCACCCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCCACTAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTA CCTACCCTGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGC CCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGG TCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCC ACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCT CCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCCTC CGCCTTCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTG GGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCC CTCCTTACCTACCCTCTGGCCCTCCACCCTCTTACCCACTACTGGGTCCC TCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCCCCTTACCCACTAC TGGGTCCCTCTGCCCTCCTTACCCACTACTGGGTCCCTCTGCCCTCCTTA CCTACCTTGTGTCCCTAG	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19240.hp1 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0168 a0001c0001t0005g0214 a0001c0001t0005g0168 a0001c0001t0005g0214	2	378	0.0053	-967	c.147 others(19): Show c.1479+3219_1480-2579del	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
PCGF3_chr4_700832_775089	746034	CTCTCCGT others(960): Show CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG TCGCTGCAGTGTTAGTGT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG02293.hp1 HG00323.hp1 HG01074.hp1 HG02293.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0018 a0002c0002t0001 a0002c0002t0018	a0002c0002t0001g0229 a0002c0002t0001g0234 a0002c0002t0018g0227 a0002c0002t0001g0229 a0002c0002t0001g0234 a0002c0002t0018g0227	3	366	0.0082	-967	c.462 others(17): Show c.462+1349_462+2315del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	746037	TCCGTGGA others(960): Show TCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC GGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGT GTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCG CTGCAGTGTTAGTGTTCG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01123.hp1 HG01070.hp1 HG01123.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0051 a0001c0001t0003 a0002c0002t0051	a0001c0001t0003g0029 a0002c0002t0051g0031 a0001c0001t0003g0029 a0002c0002t0051g0031	2	366	0.0055	-967	c.462 others(17): Show c.462+1381_462+2347del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
TMEM163_chr2_134450759_134724000	134607422	GACAGACC others(960): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGAC CCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTG AAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGA ACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGA CAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGACCCCGAGAACTG TGCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAC AGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAGAACTGT GCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGATGAAAAGGACAGAC CCCGAGAACTGTACTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTG AAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGA ACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGA CAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGC TGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCC CGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAA AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0024	1	222	0.0045	-967	c.323 others(19): Show c.323-56298_323-55332del	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
VAV2_chr9_133756894_133997324	133827245	CTGAGCGG others(960): Show CTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACT GAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGA GCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGC ACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGG GGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTGGGG GCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACGGGC ATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCAT CGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAGTGGGGGCATCA CCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCC AGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCAC CTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCT ACCGCTGCGCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTAC CGCTGCGCCCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTG CTGTGCCCACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCT GCGCCCACTGGGGCTGACCACTGAGCACGGGCATCACCACCTACCGCTGC GCCCACTGGGGCTGACCACTGAGTGGGGGCATCACCACCTACCGCTGCGC CCACTGAGGCTGACCACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCC ACTGGGGCTGACCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCAC TGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACTGCTGTGCCCACTG AGGCTGACCACTGAGTGG	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01071.hp1 HG01109.hp1 others(13): Show HG00621.hp1 HG01071.hp1 HG01109.hp1 HG02071.hp2 HG02080.hp2 HG02735.hp1 HG03704.hp1 HG04184.hp2 NA18747.hp2 NA18952.hp1 NA18959.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0003 a0002c0001 others(3): Show a0001c0002 a0001c0003 a0002c0001 a0002c0005 a0002c0031 a0004c0014	a0001c0002t0001 a0001c0003t0016 a0002c0001t0001 others(6): Show a0001c0002t0001 a0001c0003t0016 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0035 a0002c0005t0001 a0002c0031t0001 a0004c0014t0001	a0001c0002t0001g0042 a0001c0002t0001g0127 a0001c0003t0016g0100 others(13): Show a0001c0002t0001g0042 a0001c0002t0001g0127 a0001c0003t0016g0100 a0002c0001t0001g0002 a0002c0001t0001g0043 a0002c0001t0001g0062 a0002c0001t0001g0108 a0002c0001t0001g0156 a0002c0001t0001g0158 a0002c0001t0001g0193 a0002c0001t0002g0006 a0002c0001t0004g0039 a0002c0001t0035g0144 a0002c0005t0001g0110 a0002c0031t0001g0163 a0004c0014t0001g0015	16	200	0.0800	-967	c.449 others(17): Show c.449+6060_449+7026del	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
ZBED6_chr1_203790623_203859124	203817358	ATGTAGTC others(960): Show ATGTAGTCATCATTCAGTGTTCAAAATTAATCTGTTCAGGGTGCCTTTGG AAATGGGGCCACTTTGACCTATGCCTTACTAACTTTGATTTTATATACTT CATATTAAATGAGTGAGTGAATAGTTAGTGAATTGTGTTGTACTTCCAGA AACTGTCATGGGTTGAATTTGACTTCTTTCTTCTCCCAGATTTCCTGCTG AGTACTAAGAATATAGAGTCATCATACTAAATATGCTTTTGCAGTTTTTT GGCTTAATCTTTGTCAAAACTTCTGTTTTTCTCCTTGATTCTTTTGCAGC TCTATTTACATATACCTATTGCTTTCTGTGATTTTATGACTAATTCTATA AACGTATATGTTAAAAAAATTTGTTCTTCAGTCATCTTGATTTTTTTTTT ATTTTTATTTTTTGAGACGGAGTCTAGTTCTGTCACCCAGGCTGGAGTGC AGTGGTATGGTCTTGGCTTACTGTAACCTCCGCCTCCCAGGTTCAAGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTTCTGGCGCCTGCCACC ACACCCAGCTAACTGTATTTTTAGTACAGACAGGGTTTCACGTGTTGGCC AGGCTTGTCTTGAACTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCCCCACGCCCGGTGATATTATGTTT TAAATGATGAGTTTTGAGCAAAGCTGTGATAATTTTATCTTACCTATAGC AGTTTGCACAACAGTAGCGTTTTATTTCAGATATTACCGTTGCATAAAGT ATGCAGTGGAGCACAGTTATATTGTATATATGTTAATTATATTTAAATTC TATTTACTTTCTGATTTTCCATCAAAAGCTAGAGTTACACAAGGCGAGAT GTCAGTTTTGAAGATGAACTGTAAAATACATTTTTAAAGAGGACCTAACA CTCCTACTTGTCTTTTTC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0214 a0001c0003t0003g0214	1	384	0.0026	-967	c.27 others(19): Show c.2753+235_*2754-245del	ZBED6	ENSG00000257315.4	transcript	ENST00000550078.3	protein_coding	2/16			chr1	TogoVar
ZC3H11A_chr1_203790623_203859124	203817358	ATGTAGTC others(960): Show ATGTAGTCATCATTCAGTGTTCAAAATTAATCTGTTCAGGGTGCCTTTGG AAATGGGGCCACTTTGACCTATGCCTTACTAACTTTGATTTTATATACTT CATATTAAATGAGTGAGTGAATAGTTAGTGAATTGTGTTGTACTTCCAGA AACTGTCATGGGTTGAATTTGACTTCTTTCTTCTCCCAGATTTCCTGCTG AGTACTAAGAATATAGAGTCATCATACTAAATATGCTTTTGCAGTTTTTT GGCTTAATCTTTGTCAAAACTTCTGTTTTTCTCCTTGATTCTTTTGCAGC TCTATTTACATATACCTATTGCTTTCTGTGATTTTATGACTAATTCTATA AACGTATATGTTAAAAAAATTTGTTCTTCAGTCATCTTGATTTTTTTTTT ATTTTTATTTTTTGAGACGGAGTCTAGTTCTGTCACCCAGGCTGGAGTGC AGTGGTATGGTCTTGGCTTACTGTAACCTCCGCCTCCCAGGTTCAAGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTTCTGGCGCCTGCCACC ACACCCAGCTAACTGTATTTTTAGTACAGACAGGGTTTCACGTGTTGGCC AGGCTTGTCTTGAACTCCTGACCTTGTGATCTGCCCGCCTCGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCCCCACGCCCGGTGATATTATGTTT TAAATGATGAGTTTTGAGCAAAGCTGTGATAATTTTATCTTACCTATAGC AGTTTGCACAACAGTAGCGTTTTATTTCAGATATTACCGTTGCATAAAGT ATGCAGTGGAGCACAGTTATATTGTATATATGTTAATTATATTTAAATTC TATTTACTTTCTGATTTTCCATCAAAAGCTAGAGTTACACAAGGCGAGAT GTCAGTTTTGAAGATGAACTGTAAAATACATTTTTAAAGAGGACCTAACA CTCCTACTTGTCTTTTTC	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	384	0.0026	-967	c.54+ others(13): Show c.54+235_55-245del	ZC3H11A	ENSG00000058673.17	transcript	ENST00000367210.3	protein_coding	3/17			chr1	TogoVar
DLGAP2_chr8_732628_1713476	1016400	GTGTGTGA others(959): Show GTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTG TGTGACCAGGACAGACGATGCCTCCACTGTGTGAGACCAGGACAGACGGC GCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGA CCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCC TCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGAC CAGGACAGACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCC ACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGA CAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACT GTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTG TGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACG GCGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGT GACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGGCG CCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTG ACCGGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGC CTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACC AGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCA CTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGG ACAGACGACGCCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	40	0.0250	-966	c.73+ others(19): Show c.73+108441_73+109406del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
FBXL18_chr7_5470797_5518809	5492373	GTGGGGTG others(959): Show GTGGGGTGCAGCGAGCCCCTGAGATAAGAATCAAGAGGGAGCAGAGAGGC TGGAGGGGAACTCACGTGACTTCAGGGGCTGCCAGGAACTCCCGGGGTGG GGGGAGGAGCCGCTGGAGGGACGGGCTGAGGCGAATGGGGAGGGGCTAGT GTGGACTGAGCTGCGACGCCCCCCCACACACACACTATGCAGGAGTCCTC ACCTTGGGACCTGAGGGTGTGGCCTTATTTGGAGGCAGGTTTGTTGCGGA TGCAAGGGAGTTAAGAGGAGGATGCATCCTGCATGATGGGGACTCTAAAT CTAATGACTGGTTCCTTATAAGGCCAGGTGAAGGCACAGAGATACCCAGA CACAGACAGAAGGCGGCCAGGTCACAACAGAGGCAGAGACTGGGGCCACG TGTCCACCAGCCAAGCAGTGCCAGGCGTGGCTGGCAGGCGCCCGAGTTCC TCCTCACCATCCTCAGAAGGAATGAACCATCCCTGCCCATAGCCTGATTT GGGGCCTCTGGGCTCCAGAATCGTGAGACAATAAATGCCTGTTGCATGAA GCCACTCAGTTTGTGATCAATTGTCCTGGCAGCCCCAGGATCCTAGCACA GATGCTGAGGGCAGCCACAGCAGAAGGCGCCACAGGCATGGAGATTCTTC CCTGGTAGGTGACACAAAAAGACCAAGTCACGGCGGGCATGGTGGCTCAC ACTTATAATCCCAGCCCTTCAGGAGGCCAAGGCAGGAGGATCACTTGAGC CCAGGAGTTTGAGAAGAGCCTGGGCGACATAGTGAGAGCCCAGCTCTACA AAAAGTACAAAAATTATCCAGCCATGGTGGCACGCACCTGTACTCCCAGC TACTCGGGAAGCTGAGGTGGGAGGATCGCTTGAGCCCAGGACTTCGAGGC TGCAGTGAGCTAGGATCGTGCCACTGCACTCCAAGCTGGATGACAGAGCA AGACAGTCTCGATCTGT	G G	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0011 a0001c0002t0004g0011	1	338	0.0030	-966	c.178 others(18): Show c.1782-1890_1782-925del	FBXL18	ENSG00000155034.21	transcript	ENST00000382368.8	protein_coding	3/4			chr7	TogoVar
MT1E_chr16_56620781_56632112	56620919	TCACTCAT others(959): Show TCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACAGGGAACATC ACACACCAAGGGACTGTCGTGGGGTGGGGGGAGGGGGGAGGGATAGCATT AGGAGATATACCTAATGTAAATGACGAGTTAATGGGTGCAGCACACCAAC ATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACC CTAAAACTTAAAGTATAATAACAATTAAAAAAAAAAAAAGAAAGTTCTGC CCAAGCTCAAGCTGAATTTTCCCTTTCAAATTTCAGCCCTTGACTGTATC AATCCATCAAAGTGACTGGGGCTGTGGAGGGAAGAGCCGACCATTTTCCC AGCAAGATGCAGTGTGTGTAATCATGGGTTGCAGATGTTCCTGTTTGCCC TTGCAGGAGTGATAGCAGGTCCTGCAGTTTGGGGAGTGTGGGGGTGCTCA TTAGGAAAGAGTGAGGCCCTAGCTGACTTCTAATTAAAGCCAATGATTAG TGCTCCCTGGCTATGTGGAGGGAATCCTATTTGATGTTCAATCAAAGAGA AAGATGAGTCTCTTGGCCTAGAGGTCAGGGCCCACTTACTCCCTGTTTCC CTGTGACGAGATTTCAGAAGGCAGCCTGAGCCTAGGGCATGGGTTTTGCT GTCAGGCAGTCCTGGTTCACAGCCTACTTCATCACCGAAAAAAAAAAAAA AAAAAAGTGAGAGTCTCATCTCTGAAAGAGAAAAAAAGCAACTTTGGAAC TGGGTAACAGGCAAGAGTTGGAACAGTTTGGAGGGCTCAGAAGAAGAAAG AAAAATGTGGGAAAGTTTGGAACTTCCTAGAGACTTGTTGAATGGCTTTG CCCAAAATACTGATAGTGATACAGACGATAAAGTCCAGGCTGAGGTAGTC TTATATGGAAATGAGGGACTTGCTGGGAACTGGAGCAAAGGTGACTTTTG TTATGTTTTAGCAAAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG03098.hp1 HG02145.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0001 a0001c0001t0001g0001 a0001c0001t0003g0001	2	458	0.0044	-966	c.-49 others(11): Show c.-4932_-3967del	MT1E	ENSG00000169715.15	transcript	ENST00000330439.7	protein_coding		4861		chr16	TogoVar
PCGF3_chr4_700832_775089	746013	GGGGTCGC others(959): Show GGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGC TGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCG GGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCC	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0167 a0001c0001t0014g0167	1	366	0.0027	-966	c.462 others(17): Show c.462+1329_462+2294del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRPSAP1_chr17_76304478_76358916	76319669	GTGTTGGC others(959): Show GTGTTGGCCAGGCTGACCTCGTGATTCGCCCTCCTTGGCCTCCCAAAGTG CTGGGATTACAGGCGTGAGCCACCGTGCCTGGCCTGACTGATTTTTAAAA ATAAATAAATACCATTCTCCACTAAAGGTATAAGGGCTCCTTGGAGAAAT GGCCAAGTACAGTGCTAAGAAAGCACAAGATGAACACGGGGCGTGGTTAT AGCACAAAAGTAAGGGAGTCTCCAAAAGTGTTGGGGACATGCCAAAAGAA CACAGGAGGCAGCTGCAAGGAGCTCTCTCTGGCCAAATATGAGACAAACT GAGCATTAAAATAAATGTAGGCTGGGCATGGTGGCTCACATCTGTAATCC CAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGATGG AGACCAGTCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAAAGCAAA AATTAGCCGGGTGTGGTGGTGCATGCCTGTAATCCCAGAAACTTGAGAGA ACGAGCCACGAGAATCACTTGAAACTGGAAAGCAAAGGTTGCAGTGAGCT GAGATAGTGCCAGTGCACTCCAGCCTGGGTGAGACAAGAAAGAAAGAAAA GAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAAGAAAGGAAGGGAGGAA GGGAAGAAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAAAGGAAGAAA GGCAGGCATACTTCATTTTATTGCACTTTGCTTTATGTTGCTTTGCAGAT AATGCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCCCTTTGTTGCCCA GGTTGGAGTGCAGTGGCACGATCTCAGTTCACTCCAACCTCTGCCTCCCA GGTTCAAGTGATTTTCCTGACTCAGCCTACCAAGTAGCTGGGACTACAGG CACACACCACCACGTCCAGCTAATTTTTTTTTTTTTTTGTATTTCTAGTA GAGACAGGGTTTCACCA	G G	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0346 a0001c0002t0011g0346	1	366	0.0027	-966	c.782 others(17): Show c.782-6744_782-5779del	PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	7/9			chr17	TogoVar
BMPR2_chr2_202371327_202572749	202543134	ACCACTGC others(958): Show ACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCTGTCTCAAAAAAA AAAAAAGCATATATATATATATTTATATACATATATATTTATATATATAT TTATATACATATATATTTATATACATATATTTATATATATGTAAAATTCA CAACAATGAAATATCTCAAGTCCCCTGCCATTTGAGTAAGTTGTTGTTAC AACACTGAAAACATCTTACAAATTAACAAATATACACTCATATAATCTTT TAGTATAAATAGGATAATCTAATTATCTACTATCATTTCTGAAGTTTATT TTTTTACTTAAACACATTTTTTTAATGTCAGTACCTCTAGATGTATCTAT TTCTCTCCATTTGGTCAGTATTCTATTGATAAAATCATATAATGATTCTA TTGGATGATATATGATAATTATTGTATTAAAAAGGAAAAAACTACCTCTC CCTACTATCACTCTCCGTAAGTAACTCCCTTTAGCAATCTTTTGGGTTTT TTCTCTTCCAAAGATTACCATTATAACTTCAAATACTCTATCTATTCTTA AGTTATCTCTCGTTTACTTTCTCCCAGTTTGTAATATTCTATTATTAAAT GATTTATGTTTTGTCTGTAAATTCATCTAATATTTAAATACAATAACGAG AAATTTTTGGTATTATGATTATGTAAGCATTCACTGCACAACAAAGTATT GTGCTTGGATTTATAGGAAATAAAAATTCTACATTAGTTACTAAAATCTC CCCTGCGCTTTGGGGAGAATGTTTCAAGTTATCATCCATCACTTGAGCCC AAGGGTTTGAGGCTGCAGTGAGCTATGATCACACCACTGCCCTCCAGCCT GAGTAAGACCCTGTCTCTTTAAAAAAAAATGTCATCAAGTCTCAGCTGCC CAGGAGGCTGAGGTAGGAGAATTGCTTGAACCCCAGAGGTGGAGGTTGCA GCGAGGCGAGATCGTG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	224	0.0045	-965	c.141 others(18): Show c.1413+716_1413+1680del	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL26A1_chr7_101357875_101564024	101437979	TTGGGATT others(958): Show TTGGGATTACAGGCATGAGCCACTGTGCCTGGCCTTGTCCTGAGATTGAA GAAAAGCTAGGAGAGGTTCAAGGACATTTCTGCTTTAAAAACGTCACTTG GAGCTGGGCGAGGTGGCTCATGCCTGTAATCCTAACAGTCTGGGAAGCCG AGGCGGGCGGATCACCTGAGGTCGGGAGTTGGAGACCAGGCTAACCAACA TGGAGAAACCGCATATCTACTAAAAATACAAAATTAGCCAGGCGTGGTGG TGCATGCCTGTAATCCTAGCTACTCGGGAGACTGAGGCAGGAGAATCACT TAAACCTGGAAGGTGGAGGCTGCAGTGAGCCGAGATTGTGCCATTGCACT CCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAATAAACAACA GTAAAAACAAACAACAAAAAAGCATCACTTGGGAGAACCAGAGAGGGAGG GAGGCAGATGGGGTATATGTGGAAAGATGGGGTATATGCAGTCAAGGGTG GGGTGAAGGTTCAGGGCTGGCTCCTCCACTTTCTGTTGGTGTGGACCAAG TCCAGCTCTGCACCTACCTGCCGCACAGTCTCTGGTGGACTCAGTGTTTT CATCCATAAAATGGGACAGTAATACTCTCAGGTGTGAGTGGGCCGAGTAC GCAGGCATTCAGTGGCTACAGCCCCCTTAAGTTCCCCTTTCTTTTCTTTT TGTATTTTTTTTAGACAGTCTCAATCTTGCGGTCCAGGCTGGAGTGCAGT GGTGTGATCTCAGCTCACTGTAACTTCCGCCTCTCGGGTTCAAGCAATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGATCACAGGCGTGCACAACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGATTTTTAGTAGAGATGGGGTT TCACCATGTTTGTCAGGCTGGTCTCGAACTCCAAGACGATCCACCCGTCT GGGCCTCCCAAATTGC	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0121 a0001c0008t0007g0121	1	174	0.0058	-965	c.282 others(17): Show c.282-9691_282-8727del	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
LUC7L_chr16_183990_234449	186186	GGGGAACA others(958): Show GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGGAACAGCGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	350	0.0029	-965	c.20 others(11): Show c.2047_*3011del	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2803		chr16	TogoVar
DHRSX_chrX_2214506_2505976	2280857	GAGAAGGA others(957): Show GAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGA ACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAG GAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAA GAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAA CGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGA AGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAA GAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGG AGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA GGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACG AGAGAGGGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	50	0.0200	-964	c.388 others(18): Show c.388+9681_388+10644del	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6			chrX	TogoVar
HLA-DQB1_chr6_32654467_32671657	32657117	GAAGCCAC others(957): Show GAAGCCACATGAAGGGGTGGCCTGCCCCTCCACACCTGTGGGTGTTTCTT GTCGGGTGGGATGAGAAACTGAGAAAAGAAAGAGACACAGAGACAAAGTA TAGAGAAAGAAAAGTGGGCCCAGGGGACCGGCGCTCAGCATACTGAGGAC TCACGCCGGCCCCAGTCTCTGAGTTCCCTCAGTATTTATTGATCATTATC TCTACCCTCTCGGAGAGGGAGATGTGGCAGGACAATAGGGTAATAGTGGG GAGAGAGTCAGCAGGAAAACATGTGAACAAATGTCTCTGCATCATAAATG AGGTAAAGAAAAAGGCGCTGTGCTTTTTTGTGCACATACATAAACATCTC AATGCATTAAAGAGCAGTATTGCCACCAGCATGTCTCATTTCCAGCCCTA AGGCAGTTTTCTCCTATCTCAGTAGATAGAATATACAATCGGGTTTTAAA CCGAGACATTCCATTGCCCAGGGACGAGCAGGAGACAGATGCCTTCCTCT TATCTCAACTGCAAAAAGGCCTTCCTCTTTTACTAATCCTCCTCAGCACA GACCCTTTACGGGTGTCAGGCTGGGGGACAGTCAGGTCTTTCCCTTCCCA CGAGGCCATATTTCAGACTATCACATGGGGAGAAACCTTGGACAATATCC GGCTTTCCTAGGCAGAGGTCCCTGTGGACTTCCGCAGTGTTTTGTGTCCC TGGGTACTTGAGATTAGGGAGTGGTGATGACTTTTAACAAGCATGCTGCC TTCAAGCATTTGTTTAACAAAGCACATCCTGCTTTGTTAAACCTTGAGTT GACACAGCATATGTTTCTGCAAGCACAGGGTTGGGGATAGGGATACAGAT TAACAGCATCTCAAGGCAGAAGAATTTTTCTTACTACAGAACAAAATGGA GTCTCTTATGTCTACTTCTTTCTACATAGACACAGTAACAGTCTGATCTC TCTTTCTTTTCCCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(208): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 NA18522.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0008 a0009 a0010 a0012 a0016 a0017	a0001c0001 a0002c0002 a0002c0017 others(7): Show a0001c0001 a0002c0002 a0002c0017 a0004c0004 a0008c0008 a0009c0010 a0010c0009 a0012c0012 a0016c0018 a0017c0016	a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 others(13): Show a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0002c0002t0002 a0002c0017t0002 a0004c0004t0001 a0008c0008t0008 a0009c0010t0001 a0010c0009t0001 a0010c0009t0010 a0010c0009t0016 a0010c0009t0017 a0012c0012t0002 a0012c0012t0018 a0016c0018t0002 a0017c0016t0008	a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0012g0014 others(31): Show a0001c0001t0006g0003 a0001c0001t0006g0017 a0001c0001t0012g0014 a0001c0001t0014g0021 a0001c0001t0014g0033 a0002c0002t0002g0007 a0002c0002t0002g0010 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0046 a0002c0017t0002g0045 a0004c0004t0001g0002 a0004c0004t0001g0034 a0004c0004t0001g0035 a0004c0004t0001g0036 a0008c0008t0008g0008 a0008c0008t0008g0051 a0009c0010t0001g0009 a0010c0009t0001g0030 a0010c0009t0010g0018 a0010c0009t0010g0023 a0010c0009t0010g0027 a0010c0009t0016g0037 a0010c0009t0017g0038 a0012c0012t0002g0012 a0012c0012t0018g0039 a0016c0018t0002g0042 a0017c0016t0008g0052	211	402	0.5249	-964	c.21 others(11): Show c.2155_*3118del	HLA-DQB1	ENSG00000179344.17	transcript	ENST00000434651.7	protein_coding		2349		chr6	TogoVar
MSANTD5_chr5_178689572_178702761	178691277	GTGGTGGC others(957): Show GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCAAGATCATGCCA CTGCACCACTCCAGCCTGGGAGACAGAGCAAGACTCCATCTCAAAAAAAA AAAAAAAAAAGAAAGAAAAGAAAAAGAAAAAGAAAAATATAGGAAAAAGT CTTCAGGATCTAGGACTAACCAAAGGGTTCTTAGATTTGACACCCAAAGC ACTACCCATTAAAATGTTGGTAAATTGTACCTCACAAAGTCTTTTCTCTG TGAAAGCCCATAAGAAGGGCATGAAAAGACAAGCTACAAACAGGGAGAAA GTATCTGCAACACCCATATCCCATAAAACGAATATCTAGAATATATTTTA AAAAACTCTCAAATAATAACAGTAAAAACAAAAATCCAATTAGAAAATGG CCAAAACCATGAAGAGCCATGTCACTGCAGAGGATATGCAGATGGCAAAT AGGCATACAACATGCTCCGTATCATCAGCCGCCAGGGAACTGAAAATGGA AGCCATAAGTAGATATCACCGCTTTGTCATGCTGTGCAGAGGGGCCCTGG GCAGAGGCCAGTCCCATCATTCTAAGCTCTGCTAAGGCCCTCTGCGATGG ACACTCTGAAGGCCATTCTATTCGCCTTTTAATGAATAGTGACAAAACAA AATGCTGGTGAGGATATGGAGAAACTGGTTCACTCATACATTGCTGGTGG GGATGTAGAATGACACGGCCATCTGGTAAAGAGTTTGGCAGTTTCTAAAA AAAAAAAAAAAAAAAAAATTAGGCCAGGCGCTGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGTGGGTGGACCACCTGAGCTCAAGAGTT CGAGACAAGCCTGGCCAATATGGTGAAACCCTCTCTCTACTAAAAATACA AAAATTAGCTAGGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG02257.hp1 others(1): Show HG01256.hp2 HG01258.hp1 HG02257.hp1 HG02965.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0003c0003t0001g0005 a0001c0001t0001g0001 a0003c0003t0001g0005	4	430	0.0093	-964	c.24 others(11): Show c.2468_*3431del	MSANTD5	ENSG00000285891.2	transcript	ENST00000648368.2	protein_coding		3294		chr5	TogoVar
MSANTD5_chr5_178689572_178702761	178691296	GTCCCAGC others(957): Show GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAG GCGGAGCTTGCAGTGAGCCAAGATCATGCCACTGCACCACTCCAGCCTGG GAGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAAA GAAAAAGAAAAAGAAAAATATAGGAAAAAGTCTTCAGGATCTAGGACTAA CCAAAGGGTTCTTAGATTTGACACCCAAAGCACTACCCATTAAAATGTTG GTAAATTGTACCTCACAAAGTCTTTTCTCTGTGAAAGCCCATAAGAAGGG CATGAAAAGACAAGCTACAAACAGGGAGAAAGTATCTGCAACACCCATAT CCCATAAAACGAATATCTAGAATATATTTTAAAAAACTCTCAAATAATAA CAGTAAAAACAAAAATCCAATTAGAAAATGGCCAAAACCATGAAGAGCCA TGTCACTGCAGAGGATATGCAGATGGCAAATAGGCATACAACATGCTCCG TATCATCAGCCGCCAGGGAACTGAAAATGGAAGCCATAAGTAGATATCAC CGCTTTGTCATGCTGTGCAGAGGGGCCCTGGGCAGAGGCCAGTCCCATCA TTCTAAGCTCTGCTAAGGCCCTCTGCGATGGACACTCTGAAGGCCATTCT ATTCGCCTTTTAATGAATAGTGACAAAACAAAATGCTGGTGAGGATATGG AGAAACTGGTTCACTCATACATTGCTGGTGGGGATGTAGAATGACACGGC CATCTGGTAAAGAGTTTGGCAGTTTCTAAAAAAAAAAAAAAAAAAAAAAT TAGGCCAGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGTGGGTGGACCACCTGAGCTCAAGAGTTCGAGACAAGCCTGGCCAAT ATGGTGAAACCCTCTCTCTACTAAAAATACAAAAATTAGCTAGGCATGGT GGCAGGCGCCTGTAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00642.hp1 others(50): Show HG00099.hp2 HG00280.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02886.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03654.hp1 HG03669.hp1 HG04184.hp2 HG04199.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp1 NA20129.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0049 a0003c0003t0001g0005 others(8): Show a0001c0001t0001g0001 a0001c0001t0001g0049 a0003c0003t0001g0005 a0003c0003t0001g0009 a0003c0003t0001g0019 a0003c0003t0001g0024 a0003c0003t0001g0026 a0003c0003t0001g0041 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0055	53	430	0.1233	-964	c.24 others(11): Show c.2449_*3412del	MSANTD5	ENSG00000285891.2	transcript	ENST00000648368.2	protein_coding		3275		chr5	TogoVar
RAB40C_chr16_585066_634268	611730	CAGGGACA others(957): Show CAGGGACAGCCGCCCTGGCCTGTAGATTCAAGAGCAGGGACAGCCGCCCT GGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTCGCCTGTAGAATCAA GAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCG CCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTAGAA TCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACA GCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGCCTTTGCCTGT AGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGCATCAAGAGCAAGG GACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCC TGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCA GGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGG CCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAG CAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCT GGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGATTCAAG AGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGGACAGCCGC CTTCGCCTGTAGAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATC AAGAGCACGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAG CCGCCCTGGCCTGTAGAATCAAGAGCACGGGACAGCCGCCCTGGCCTGTA GAATCAAGAGCAGGGACAGCCGCCCTGGCCTGTAGAATCAAGAGCAAGGG ACAGCCGCCTTTGCCTGTAGAATCAAGAGCAGGGACAGCTGCCCTGGCCT GTAGCATCAAGAGCA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0212	1	350	0.0029	-964	c.143 others(17): Show c.143-5452_143-4489del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADARB2_chr10_1172313_1742525	1235645	CCTCCCGG others(956): Show CCTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCC TCCCGGTGTTTACTCCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTG ATCCACCCGCCTGGGCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCAC CACACTGGGCCCCACCATGATCTTTTAACAAGCCAATTTTTCCCACTGCT GTTCGCCCACATCTATCTGTCTACACACCTGTGATTCTGTGGATTTGCCA GTGCTGCTCATGGCCATACCTCACAGTGGACTGTGGGTTTGACGTAGCCT GAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGG CCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACG GCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCA GCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGT GAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGA ACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGT GTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGT TTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTC ACTCCCCCCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTAC TCCCCCTCTGCCTCCCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACCC AGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTG TTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCT GCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGG TGTTTACCCTCTGT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02897.hp2 others(1): Show HG02145.hp1 HG02258.hp2 HG02897.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0029 a0001c0001t0050 others(1): Show a0001c0001t0001 a0001c0001t0029 a0001c0001t0050 a0002c0002t0005	a0001c0001t0001g0069 a0001c0001t0029g0031 a0001c0001t0050g0077 others(1): Show a0001c0001t0001g0069 a0001c0001t0029g0031 a0001c0001t0050g0077 a0002c0002t0005g0028	4	106	0.0377	-963	c.136 others(19): Show c.1362-2763_1362-1801del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235661	CCCCTCTC others(955): Show CCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCC CTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGGGC CCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCACC ATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCTAT CTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGCCA TACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTGTG TGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCACC AGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCATC CAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGA ATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGC AGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCAT TTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCCCT CCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCTCC CGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTCCC GGTGTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAGAG TTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCACC AGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTGGG CGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGTCT CCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	106	0.0094	-962	c.136 others(19): Show c.1362-2778_1362-1817del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1235709	CCCTGTGT others(955): Show CCCTGTGTCCTGGTGTTACTCCCCTGCTTTCAGGTGATCCACCCGCCTGG GCCCCCCAAAGAGCTGGGATTACAGGCGAGAGCCACCACACTGGGCCCCA CCATGATCTTTTAACAAGCCAATTTTTCCCACTGCTGTTCGCCCACATCT ATCTGTCTACACACCTGTGATTCTGTGGATTTGCCAGTGCTGCTCATGGC CATACCTCACAGTGGACTGTGGGTTTGACGTAGCCTGAGTGGGCAGCTTG TGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAGGCCTGGGCTCCGTCA CCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAACGGCTTTCCTTCTGCA TCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGT GAATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGA GCAGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGC ATTTCCTTCTTCGGTGTTTACCCTCTGTCTCCCGGTGTTTACTCCCCTCT CCCTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTCC CTCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTCACTCCCCCCTGCCT CCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCCCCCTCTGCCTC CCGGTGTTTACTCCCCCCTGCCTCCAGCCATGACCCAGGTGGGGCGGGAG AGTTCCCAGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAACTCCCA CCAGCTGTGAAGCTGGAGCTGAGCAGCCCCACCTCTGCCCCATCGGAGTG GGCGCTGAACGAACATGCCTGCATTTCCTTCTTCGGTGTTTACCCTCTGT CTCCCGGTGTTTACTCCCCTCTCCCTCCCGGTGTTTACTCCCCTCTGCCT CCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA20129.hp2 NA18995.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0014 a0001c0001 a0002c0014	a0001c0001t0003 a0002c0014t0008 a0001c0001t0003 a0002c0014t0008	a0001c0001t0003g0085 a0002c0014t0008g0060 a0001c0001t0003g0085 a0002c0014t0008g0060	2	106	0.0189	-962	c.136 others(19): Show c.1362-2826_1362-1865del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
B3GNTL1_chr17_82937149_83056770	83003718	CTCCGCAT others(955): Show CTCCGCATGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGA TTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGA GCCCACCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCGCC CTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGC CCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGC GTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCATGTGGGATTCCTG AGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCA CTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCG CGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTCCGCAGTCCGCGTGTGG GATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCCCG CCCTCCCACTCTCCGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCC GCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAGTCC GCGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGTGGGATTCC TGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCC GCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCACTCTC TGCAGTCCGCGTGTGGGATTCCTGAGCTCGCCCTCCCGCCCTCCGCGTGT GGGATTCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTC CTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCATGTGGGATTCCTGAGCT CGCCCTCCCACCCTCCGCACTCCGCGTGTGGGATTCCTGAGCTCGCCCTC CCACCCTCCGCAG	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0074 a0001c0002t0002g0074	1	266	0.0038	-962	c.459 others(16): Show c.459+435_459+1396del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
CACNA1B_chr9_137872782_138129619	138017897	TCAGGTGC others(955): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGTCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATG GAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGT GCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCAC CTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGA AGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGC AGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCT GCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAG TGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAG TTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGC CCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTG GCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTT AGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCC TGATGGAAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03453.hp1 HG03516.hp2 HG02976.hp2 HG03453.hp1 HG03516.hp2	a0002 a0010 a0002 a0010	a0002c0001 a0002c0004 a0010c0040 a0002c0001 a0002c0004 a0010c0040	a0002c0001t0005 a0002c0004t0001 a0010c0040t0002 a0002c0001t0005 a0002c0004t0001 a0010c0040t0002	a0002c0001t0005g0231 a0002c0004t0001g0213 a0010c0040t0002g0230 a0002c0001t0005g0231 a0002c0004t0001g0213 a0010c0040t0002g0230	3	248	0.0121	-962	c.226 others(19): Show c.2267+4773_2268-4042del	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CACNG7_chr19_53904278_53948950	53920698	GCTCCAGG others(955): Show GCTCCAGGTCTGGTCATTGGTGGAGCTGTCCCAGGCTGGTCATTGGTGGA GTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGT GGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATT GGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGT CATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGC TGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAG GCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCC AGGCCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAGTTG TCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGA GTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTG GAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATT GGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCTCAGGTCTGGT CATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGACTTGCCCCAGGCT GGTCATTGGTGGAGTCGTCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCA GGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCC CCAGGTCTGGTATTGCTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGT TGCCCCAGGTCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGG AGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGG TGGAGTCGTCCCCAGGTCTGGTCATTGGTGGAGTCGTCCCCAGGTCTGGT CATTGGTGGACTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG01884.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0027 a0001c0001t0003g0003 a0001c0001t0003g0027	2	364	0.0055	-962	c.424 others(17): Show c.424+5194_424+6155del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53920326	CCAGGTCT others(954): Show CCAGGTCTGGTCATTGGTGGAGTTTCCCCAGGTCTGGTCATTGGTGGAGT TGCCTCAGGTCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTG GACTTGCCCCAGGCCGGTCATTGGTGGAGTCGTCCCCAGGTCTGGTCATT GGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTC ATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCT GGTCATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGCCCCAGG TCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCC AGGTCTGGTCATTGGTGGACTTGCTCCAGGTCTGGTCATTGGTGGAGCTG TCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAG TTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGG AGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTG GTGGAGTTGTCCCAGGTCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGT CATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTG GTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGC TGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGACTTGCCCCA GGTCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGC CCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGACT TGCCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGG AGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTG GTGGAGTTGCCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	364	0.0028	-961	c.424 others(17): Show c.424+4842_424+5802del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CDK11A_chr1_1697379_1729357	1725693	CCTGTGAC others(954): Show CCTGTGACTACAGGCGCCTGCCACCATGCCCGGCTAATTTTTTTTTTATT TTCGGTAGAGACGGGGTTTTACCGTGTTAGCCAGGATGGTCTCAATCTCC TGACCTCGTGATCAGCCTGCCTCTGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCTGGCCTCCCCCAAGCTCTTAATGTTGCTTCCTGA GTTCTTGGTAACTGGGGAAATCTCCCTATTTTTTTATTTTTATTTTTTTT TGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATC TCGGCTCACTGCAAGCCCCACCTCCCGGGTTCAACGCCATTATCCTGCGA GCCTCAGCCTGCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCTG GCTAATTTTTTGTATTTTTTTTAGTAGAGACGGGGTTTCACTGTGTTCGC CAGGATGGTCTCGATCTCCTTACCTTGTGATTCGCCCGCCTTGGCCTCCC AGAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTAGCTATTTTTATTT TTTCTGATAGGGAGACTCGCTCTGGCCCAGGCTGGAGGGCAGTGGCGGGA TCTCCGCTCATTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCCGCC TCCACTCCATTCTCCCATCTTAGGCTCCAGAGTAGCTGGGCCACCATGCC CGGCTAATTTTTTGTATTTTTAGTTGAGACCGGGTTTCACTGTGTTAGCC AGGATGGTCTTGATCTCGTGACCTCGTGATCTGCCTGCCTTGGCCTCCCA AAGTGCTGGGATTACAGGCGTGAGCCACAGCACCCTGCCCTTTTTTTTGA GAAATAAGTCTCACTGTGTCACCCAGGCTGGAGTAGAGTGACACAATTTT GGGTAACTGCAGCTTCCACCTCCCAGGTTCAAGTGATTCTCCTGCCTCAG CCTCCCGAGTAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0052 a0009c0009t0002g0052	1	372	0.0027	-961	c.-24 others(11): Show c.-2410_-1450del	CDK11A	ENSG00000008128.23	transcript	ENST00000404249.8	protein_coding		1337		chr1	TogoVar

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