Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SUN1_chr7_827476_879934	876849	TCCCATTG others(152): Show TCCCATTGGCCGCGCCGCCTCGCCCCGCGCCCCCATTGGGCCGCGCCGCT GCCCGTCGCGGGGGCGAGCTGGACCCAGGGGCCGCGGGTCGCCCGGCGGA GGGTCTGGGCCGCGTCTCCGGGGTCTGGCCCTGTGTGGCCCGGCGCCCCC GTTCCCTCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0247 a0001c0004t0002g0247	1	418	0.0024	-159	c.35 others(11): Show c.3519_*3677del	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding		1916		chr7	TogoVar
TACR3_chr4_103581031_103724985	103650825	TAATATAT others(152): Show TAATATATATATCTTATATATAATAATATATATATCTCATATATAATAAT ATATATATCTTATATATAATAATATATATATCTCATATATAATAATATAT ATATCTTATATATAATAATATATATATCTCATATATAATAATATATATAT CTTATATATA	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0278 a0001c0001t0049g0278	1	280	0.0036	-159	c.888 others(17): Show c.888+5210_888+5368del	TACR3	ENSG00000169836.5	transcript	ENST00000304883.3	protein_coding	3/4			chr4	TogoVar
TERT_chr5_1248167_1300068	1272925	CCACACAT others(152): Show CCACACATCAGACCCCTGTGACCGATCGCCATCCAGTCACCACACATCAG ACCCCCGGGACCAACCGCCATCCACAGTCACCACACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCC ACAGTCACCA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0017	1	392	0.0026	-159	c.228 others(17): Show c.2287-804_2287-646del	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMEM18_chr2_658877_682406	671353	CCCTCCTG others(152): Show CCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCA GGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGAGAG GCAGGGTCCTCCTGGGACTGAACCATGTGAAGGCCCTGCATCCGGGAGGA GAGGCAGGGT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02630.hp1 others(13): Show HG02109.hp1 HG02486.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02895.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03516.hp2 HG03710.hp2 NA18957.hp1 NA19064.hp1 NA19068.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0043	a0001c0001t0002g0131 a0001c0001t0003g0036 a0001c0001t0009g0035 others(4): Show a0001c0001t0002g0131 a0001c0001t0003g0036 a0001c0001t0009g0035 a0001c0001t0009g0037 a0001c0001t0009g0067 a0001c0001t0010g0009 a0001c0001t0043g0098	16	442	0.0362	-159	c.233 others(17): Show c.233+1296_233+1454del	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMEM239_chr20_2811364_2823062	2822556	CTCTCCCT others(152): Show CTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCGTCTCCCTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTC CCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCT CCCTCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	400	0.0025	-159	c.55 others(11): Show c.5544_*5702del	TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding		4495		chr20	TogoVar
TOP1MT_chr8_143304324_143339880	143316449	CGGCTTCC others(152): Show CGGCTTCCCCTGGCGAGTCTGTGGGTCCCTGCCTGTCACAAGTCCCCAGC ACCCGGCTTCCCCTGGCGAGTCTGTGGGTCCCTGCCTGTCACAAGTCCCC AGCACCCGGCTTCCCCTGGCGAGTCTGTGGGTCCCTGCCTGTCACAAGTC CCCAGCACCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(66): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01081.hp1 HG01255.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02165.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 NA18906.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18963.hp2 NA18966.hp1 NA18967.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18998.hp1 NA19000.hp1 NA19012.hp1 NA19030.hp2 NA19062.hp2 NA19066.hp2 NA19068.hp2 NA19078.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0017	a0002c0004 a0002c0006 a0002c0028 others(7): Show a0002c0004 a0002c0006 a0002c0028 a0002c0029 a0002c0032 a0002c0036 a0004c0007 a0005c0009 a0005c0010 a0017c0035	a0002c0004t0001 a0002c0006t0001 a0002c0028t0001 others(7): Show a0002c0004t0001 a0002c0006t0001 a0002c0028t0001 a0002c0029t0001 a0002c0032t0001 a0002c0036t0001 a0004c0007t0001 a0005c0009t0001 a0005c0010t0001 a0017c0035t0001	a0002c0004t0001g0003 a0002c0004t0001g0011 a0002c0004t0001g0012 others(57): Show a0002c0004t0001g0003 a0002c0004t0001g0011 a0002c0004t0001g0012 a0002c0004t0001g0013 a0002c0004t0001g0043 a0002c0004t0001g0052 a0002c0004t0001g0053 a0002c0004t0001g0055 a0002c0004t0001g0056 a0002c0004t0001g0057 a0002c0004t0001g0058 a0002c0004t0001g0059 a0002c0004t0001g0060 a0002c0004t0001g0061 a0002c0004t0001g0062 a0002c0004t0001g0064 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0067 a0002c0004t0001g0068 a0002c0004t0001g0071 a0002c0004t0001g0072 a0002c0004t0001g0073 a0002c0004t0001g0097 a0002c0004t0001g0098 a0002c0004t0001g0099 a0002c0004t0001g0100 a0002c0006t0001g0022 a0002c0006t0001g0025 a0002c0006t0001g0107 a0002c0006t0001g0124 a0002c0006t0001g0142 a0002c0006t0001g0143 a0002c0006t0001g0173 a0002c0006t0001g0200 a0002c0006t0001g0218 a0002c0006t0001g0252 a0002c0006t0001g0303 a0002c0006t0001g0314 a0002c0028t0001g0103 a0002c0029t0001g0174 a0002c0032t0001g0090 a0002c0036t0001g0063 a0004c0007t0001g0040 a0004c0007t0001g0041 a0004c0007t0001g0368 a0004c0007t0001g0369 a0004c0007t0001g0370 a0004c0007t0001g0371 a0004c0007t0001g0372 a0004c0007t0001g0373 a0004c0007t0001g0374 a0004c0007t0001g0375 a0004c0007t0001g0377 a0005c0009t0001g0046 a0005c0009t0001g0047 a0005c0010t0001g0074 a0005c0010t0001g0083 a0005c0010t0001g0084 a0017c0035t0001g0096	69	430	0.1605	-159	c.133 others(17): Show c.1331-482_1331-324del	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	10/13			chr8	TogoVar
TRAPPC12_chr2_3374694_3484565	3437616	AGGATTAA others(152): Show AGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGA TTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAAT CCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAATACCC CATCACCCCT	A A	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	344	0.0029	-159	c.141 others(19): Show c.1418-6057_1418-5899del	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM46_chr1_155168849_155189970	155189811	CTTGGGGG others(152): Show CTTGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTG ACACCGTGGGCTGCGGGCGCGGTGTAGCCCGGGGCGGGCCTTGTGTCCGG GGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCGGGAC TGGTGTCCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG03942.hp1 NA18968.hp1 HG01981.hp2 HG03942.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008	3	348	0.0086	-159	c.56 others(11): Show c.5622_*5780del	TRIM46	ENSG00000163462.19	transcript	ENST00000334634.9	protein_coding		4842		chr1	TogoVar
TUBGCP2_chr10_133273635_133313872	133291457	CCGTGTCC others(152): Show CCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGT CCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	284	0.0035	-159	c.121 others(18): Show c.1214+883_1214+1041del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP2_chr10_133273635_133313872	133291551	CCGTGTCC others(152): Show CCGTGTCCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAG AGGGCAGCATGCACCGTCCGTGTCCCCCATGTCCCTCCGTGTCCCCGTGT CCCTCCGTGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCA GCATGCACCG	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	284	0.0035	-159	c.121 others(17): Show c.1214+789_1214+947del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
TUBGCP6_chr22_50212694_50250023	50234611	TATCCACA others(152): Show TATCCACAGCAGCATCATCCACACCCCCTGTGCACGGCAGCATCACCCAC ACCCCCGTCCACAGCAGCATCTACACCCAGGTCCACAGCAGCATCATCCA CACCCCCTGTCCACGGCAGCATCACCCACACCCACCCATGGTACCAGCAC CCACACCCCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0040 a0002c0040	a0002c0040t0003 a0002c0040t0003	a0002c0040t0003g0359 a0002c0040t0003g0359	1	436	0.0023	-159	c.906 others(17): Show c.906-1244_906-1086del	TUBGCP6	ENSG00000128159.12	transcript	ENST00000248846.10	protein_coding	2/24			chr22	TogoVar
VWA8_chr13_41561835_41966109	41898221	GTAGATAC others(152): Show GTAGATACAGAGTGTCGATTGGTGCACTCACAAACCCTGAGCTAGACACA GGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATACAGAGTGCCAA TTGGTGTATTTACAATCCCTGAGCTAGACACAGGGTGCTCCAAGGCCCCA CCAGAGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0183 a0001c0001t0003g0183	1	250	0.0040	-159	c.484 others(17): Show c.484-6793_484-6635del	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	4/44			chr13	TogoVar
WDR4_chr21_42844226_42884539	42848738	GCACCTCA others(152): Show GCACCTCACACAGCACACGATCACGCGGCGCGCACCTCACACAGCACACG ATCACGCGGCGCGCACCTCACACAGCACACGATCACGCGGCGCGCACCTC ACTCACAGCACACGATCACACCGCGCACCTCACACACACAGCGCACGATC ACGCGGCGCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(78): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01243.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01975.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA20129.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0008	a0002c0002 a0004c0004 a0004c0007 others(2): Show a0002c0002 a0004c0004 a0004c0007 a0005c0009 a0008c0010	a0002c0002t0003 a0004c0004t0003 a0004c0004t0004 others(4): Show a0002c0002t0003 a0004c0004t0003 a0004c0004t0004 a0004c0004t0015 a0004c0007t0004 a0005c0009t0003 a0008c0010t0004	a0002c0002t0003g0003 a0002c0002t0003g0011 a0002c0002t0003g0034 others(63): Show a0002c0002t0003g0003 a0002c0002t0003g0011 a0002c0002t0003g0034 a0002c0002t0003g0035 a0002c0002t0003g0036 a0002c0002t0003g0202 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0003g0270 a0002c0002t0003g0271 a0002c0002t0003g0272 a0002c0002t0003g0273 a0002c0002t0003g0274 a0002c0002t0003g0275 a0002c0002t0003g0276 a0002c0002t0003g0277 a0002c0002t0003g0278 a0002c0002t0003g0279 a0002c0002t0003g0280 a0002c0002t0003g0281 a0002c0002t0003g0282 a0002c0002t0003g0283 a0002c0002t0003g0284 a0002c0002t0003g0285 a0002c0002t0003g0286 a0002c0002t0003g0289 a0002c0002t0003g0290 a0002c0002t0003g0291 a0002c0002t0003g0292 a0002c0002t0003g0293 a0002c0002t0003g0294 a0002c0002t0003g0295 a0002c0002t0003g0296 a0002c0002t0003g0297 a0002c0002t0003g0298 a0002c0002t0003g0299 a0002c0002t0003g0300 a0002c0002t0003g0301 a0002c0002t0003g0302 a0002c0002t0003g0303 a0002c0002t0003g0304 a0004c0004t0003g0205 a0004c0004t0003g0206 a0004c0004t0004g0028 a0004c0004t0004g0029 a0004c0004t0004g0200 a0004c0004t0004g0207 a0004c0004t0004g0208 a0004c0004t0004g0209 a0004c0004t0004g0210 a0004c0004t0004g0212 a0004c0004t0004g0213 a0004c0004t0004g0214 a0004c0004t0004g0215 a0004c0004t0004g0216 a0004c0004t0004g0228 a0004c0004t0004g0268 a0004c0004t0015g0211 a0004c0007t0004g0033 a0004c0007t0004g0196 a0004c0007t0004g0197 a0004c0007t0004g0198 a0004c0007t0004g0199 a0005c0009t0003g0287 a0005c0009t0003g0288 a0008c0010t0004g0220	81	400	0.2025	-159	c.11 others(11): Show c.1152_*1310del	WDR4	ENSG00000160193.12	transcript	ENST00000398208.3	protein_coding		487		chr21	TogoVar
XXYLT1_chr3_195063284_195276159	195272788	AAAAAAAA others(152): Show AAAAAAAAAAAGTAGGCAGTGTGGTGGCGGACACCTGCAATTCCAGCTAC TCGAGAGGCTGAGGCAAGAGAATCGCTTGAACCTAGGAGGCAGAGGATGC AGTGAGCCGAGATCATAACACTGCACTCCAGCCTGGGCGACAAGAGCAAA ACCCTGTCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	198	0.0051	-159	c.-18 others(11): Show c.-1889_-1731del	XXYLT1	ENSG00000173950.16	transcript	ENST00000310380.11	protein_coding		1630		chr3	TogoVar
ZNF573_chr19_37733302_37784586	37751564	CATATATA others(152): Show CATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATA TATACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGC ATATATACTGTATATAGTACATAGTACCGTATATATACTGTATATAGTAC ATAGTACCGT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0235 a0001c0001t0001g0221 a0001c0001t0001g0235	2	350	0.0057	-159	c.296 others(19): Show c.296-11529_296-11371del	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZNF99_chr19_22747183_22789151	22780754	CAAAGTTT others(152): Show CAAAGTTTCAGCATGAAACTCAGATAGCAAAGTAATAGGATACAGAATAG AGATAGTCACTGTTACAAATTTACCCTGCAAAAGGAGGAACTGATGTTTT CATGAATCTAAGGAACTCACCAATTACCACCTTTTCTTGTGGAAATATGT GCATTTTCTA	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0155 a0001c0001t0006g0155	1	344	0.0029	-159	c.3+3 others(13): Show c.3+3101_3+3259del	ZNF99	ENSG00000213973.10	transcript	ENST00000596209.4	protein_coding	1/3			chr19	TogoVar
ADARB2_chr10_1172313_1742525	1236433	CAGCCATG others(151): Show CAGCCATGACCCAGGTGGGGCGGGAGAGTTCCCAGCCTCTCTGATGGTGA ATGATTTGCCTGTTGCAAAACTCCCACCAGCTGTGAAGCTGGAGCTGAGC AGCCCCACCTCTGCCCCATCGGAGTGGGCGCTGAACGAACATGCCTGCAT TTCCTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp2 HG02080.hp1 others(6): Show HG00408.hp2 HG00639.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 NA18982.hp1 NA18995.hp2 NA19070.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0002 a0002c0002t0004 others(6): Show a0001c0001t0013 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0027 a0002c0002t0041 a0002c0002t0053	a0001c0001t0013g0007 a0002c0002t0002g0050 a0002c0002t0004g0084 others(6): Show a0001c0001t0013g0007 a0002c0002t0002g0050 a0002c0002t0004g0084 a0002c0002t0005g0012 a0002c0002t0007g0001 a0002c0002t0008g0058 a0002c0002t0027g0021 a0002c0002t0041g0074 a0002c0002t0053g0106	9	106	0.0849	-158	c.136 others(19): Show c.1362-2746_1362-2589del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ALOXE3_chr17_8090900_8123514	8107840	AGAAAGAA others(151): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGGAAGGAGAGAGAGAGAGAGAGAAAGAAA GAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02109.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0012 a0001c0016t0001 a0001c0002t0012 a0001c0016t0001	a0001c0002t0012g0008 a0001c0016t0001g0279 a0001c0002t0012g0008 a0001c0016t0001g0279	2	422	0.0047	-158	c.168 others(17): Show c.1684+470_1684+627del	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
AP3D1_chr19_2095988_2156566	2128442	GCACTGCA others(151): Show GCACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACC CCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCG GCCCGCCCCACAGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCG CCGCTCCGA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02080.hp2 HG02129.hp2 others(1): Show HG01934.hp2 HG02080.hp2 HG02129.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0156 a0001c0001t0003g0380 a0001c0001t0003g0382 others(1): Show a0001c0001t0001g0156 a0001c0001t0003g0380 a0001c0001t0003g0382 a0001c0001t0003g0383	4	406	0.0099	-158	c.806 others(15): Show c.806+490_806+647del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2128593	CGCTCCGA others(151): Show CGCTCCGACACTGCACCCCGTGGAGCCGGCCCGCCCCCGCCGCTCCGACA CTGCACCCCGTGGAGCCGGCCCGCCCCACAGCTCCGACACTGCACCCCGT GGAGCCGGCCCGCCCCCGCCGCTCCGACACTGCACCCCGTGGAGCCGGCC CGCCCCACA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0192 a0001c0003t0002g0192	1	406	0.0025	-158	c.806 others(15): Show c.806+339_806+496del	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/31			chr19	TogoVar
ARHGAP8_chr22_44747575_44867784	44800945	GTGTGTGG others(151): Show GTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCT CTCCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTGTG GGGGCACCTCTCCCCGCAGCTGTCCATGTGTGAGGGGCACCTCTCCCCGC AGCTGTCCA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01099.hp1 others(14): Show HG01069.hp2 HG01071.hp1 HG01099.hp1 HG01358.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02148.hp1 HG02258.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0024 a0002c0003 others(3): Show a0001c0001 a0001c0024 a0002c0003 a0003c0005 a0003c0070 a0009c0026	a0001c0001t0001 a0001c0001t0003 a0001c0024t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0024t0001 a0002c0003t0004 a0003c0005t0002 a0003c0070t0002 a0009c0026t0005	a0001c0001t0001g0134 a0001c0001t0001g0161 a0001c0001t0001g0343 others(14): Show a0001c0001t0001g0134 a0001c0001t0001g0161 a0001c0001t0001g0343 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0155 a0001c0001t0003g0224 a0001c0001t0003g0373 a0001c0001t0003g0374 a0001c0001t0003g0375 a0001c0024t0001g0010 a0001c0024t0001g0294 a0002c0003t0004g0270 a0003c0005t0002g0027 a0003c0005t0002g0330 a0003c0070t0002g0146 a0009c0026t0005g0261	17	390	0.0436	-158	c.80- others(14): Show c.80-1120_80-963del	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATP11A_chr13_112685038_112892168	112766817	GAAGGTGG others(151): Show GAAGGTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGA GGGTGTGGGAGTGCTGGGAGCCCCTGTGGAAAGGTGGGGAGATGTGGGGG TGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGC CCCCGTGGA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02572.hp2 HG03098.hp2 others(4): Show HG00733.hp2 HG02572.hp2 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03834.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0014 a0001c0019 a0001c0042	a0001c0001t0001 a0001c0002t0006 a0001c0004t0003 others(3): Show a0001c0001t0001 a0001c0002t0006 a0001c0004t0003 a0001c0014t0003 a0001c0019t0015 a0001c0042t0044	a0001c0001t0001g0015 a0001c0001t0001g0146 a0001c0002t0006g0014 others(4): Show a0001c0001t0001g0015 a0001c0001t0001g0146 a0001c0002t0006g0014 a0001c0004t0003g0149 a0001c0014t0003g0178 a0001c0019t0015g0147 a0001c0042t0044g0148	7	254	0.0276	-158	c.40- others(17): Show c.40-18306_40-18149del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767118	CTGGGAGC others(151): Show CTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGTATCGGGGGCCC CTGTAGGAAGGTAGGGAGGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAG GTGGGGAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATG TGGGGGTGT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0033 a0002c0003t0033	a0002c0003t0033g0031 a0002c0003t0033g0031	1	254	0.0039	-158	c.40- others(17): Show c.40-18012_40-17855del	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AUTS2_chr7_69593475_70798506	70363322	GAAAATCT others(151): Show GAAAATCTGAAGCTATTGATATACCTAATGCTAGATGACACATTGGTGGG TGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAA TGTGCACATGTACCCTAAAACTTAGAGTATAATATAAAAAAAAGAAAAAA AAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 HG02258.hp1 others(2): Show HG01243.hp2 HG02257.hp2 HG02258.hp1 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0006 a0001c0003t0008 a0001c0004t0012 others(2): Show a0001c0001t0006 a0001c0003t0008 a0001c0004t0012 a0001c0004t0013 a0001c0007t0006	a0001c0001t0006g0010 a0001c0003t0008g0039 a0001c0004t0012g0024 others(2): Show a0001c0001t0006g0010 a0001c0003t0008g0039 a0001c0004t0012g0024 a0001c0004t0013g0025 a0001c0007t0006g0027	5	76	0.0658	-158	c.661 others(19): Show c.661-72409_661-72252del	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
BACE1_chr11_117280698_117321256	117320376	AGCAATTC others(151): Show AGCAATTCTCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCGTGTGC CACCATGTCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCA TGTTGGCCAGCCTGGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCA CCACGTTGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(395): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0009 a0002c0005 a0003c0007 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0013 a0001c0002t0017 a0001c0002t0018 a0001c0002t0020 a0001c0002t0022 a0001c0002t0023 a0001c0002t0026 a0001c0002t0027 a0001c0002t0030 a0001c0003t0003 a0001c0004t0001 a0001c0008t0006 a0001c0009t0003 a0002c0005t0001 a0003c0007t0002 a0004c0006t0019	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(238): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0002g0090 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0183 a0001c0001t0002g0208 a0001c0001t0005g0004 a0001c0001t0005g0043 a0001c0001t0005g0058 a0001c0001t0005g0165 a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0001t0005g0182 a0001c0001t0005g0224 a0001c0001t0005g0230 a0001c0001t0008g0056 a0001c0001t0008g0091 a0001c0001t0008g0122 a0001c0001t0008g0147 a0001c0001t0008g0167 a0001c0001t0008g0203 a0001c0001t0012g0035 a0001c0001t0014g0128 a0001c0001t0014g0129 a0001c0001t0015g0201 a0001c0001t0015g0202 a0001c0001t0016g0065 a0001c0001t0021g0161 a0001c0001t0024g0173 a0001c0001t0025g0187 a0001c0001t0028g0184 a0001c0001t0029g0075 a0001c0001t0031g0142 a0001c0001t0032g0242 a0001c0001t0033g0243 a0001c0002t0001g0008 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0028 a0001c0002t0001g0064 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0076 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0125 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0162 a0001c0002t0001g0179 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0206 a0001c0002t0001g0214 a0001c0002t0001g0220 a0001c0002t0001g0227 a0001c0002t0001g0232 a0001c0002t0002g0007 a0001c0002t0002g0016 a0001c0002t0002g0026 a0001c0002t0002g0051 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0094 a0001c0002t0002g0106 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0117 a0001c0002t0002g0178 a0001c0002t0002g0213 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0003g0006 a0001c0002t0003g0029 a0001c0002t0003g0037 a0001c0002t0003g0040 a0001c0002t0003g0047 a0001c0002t0003g0050 a0001c0002t0003g0054 a0001c0002t0003g0055 a0001c0002t0003g0092 a0001c0002t0003g0097 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0144 a0001c0002t0003g0146 a0001c0002t0003g0228 a0001c0002t0004g0002 a0001c0002t0004g0022 a0001c0002t0004g0032 a0001c0002t0004g0041 a0001c0002t0004g0042 a0001c0002t0004g0053 a0001c0002t0004g0070 a0001c0002t0004g0095 a0001c0002t0004g0099 a0001c0002t0004g0107 a0001c0002t0004g0108 a0001c0002t0006g0021 a0001c0002t0006g0034 a0001c0002t0006g0239 a0001c0002t0006g0240 a0001c0002t0007g0014 a0001c0002t0007g0093 a0001c0002t0007g0101 a0001c0002t0007g0102 a0001c0002t0009g0039 a0001c0002t0009g0084 a0001c0002t0010g0130 a0001c0002t0010g0131 a0001c0002t0010g0145 a0001c0002t0010g0164 a0001c0002t0011g0074 a0001c0002t0011g0151 a0001c0002t0011g0163 a0001c0002t0013g0158 a0001c0002t0013g0159 a0001c0002t0017g0067 a0001c0002t0018g0066 a0001c0002t0020g0098 a0001c0002t0022g0160 a0001c0002t0023g0133 a0001c0002t0026g0215 a0001c0002t0027g0149 a0001c0002t0030g0153 a0001c0003t0003g0033 a0001c0003t0003g0237 a0001c0003t0003g0238 a0001c0004t0001g0036 a0001c0004t0001g0069 a0001c0008t0006g0241 a0001c0009t0003g0141 a0002c0005t0001g0143 a0003c0007t0002g0113 a0004c0006t0019g0105	398	400	0.9950	-158	c.-47 others(11): Show c.-4739_-4582del	BACE1	ENSG00000186318.18	transcript	ENST00000313005.11	protein_coding		4121		chr11	TogoVar
BANP_chr16_87946434_88082316	87999949	TCCTTCCA others(151): Show TCCTTCCAGACGTGTCTCCATGCACGCACGTGCGCGGCTGTACTTGCCTG TCCTTCCAGACACCCAGACACGTCTCCATGCACGCATGTGCGCGGCTGTA CTTACCTGTCCTTCCAGACACGTCTCCATGCCCGCACGTGCGCGGCTGTA CTTACCAGG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02630.hp2 others(6): Show HG02055.hp1 HG02615.hp2 HG02630.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0007 a0001c0014 a0001c0007 a0001c0014	a0001c0007t0001 a0001c0014t0001 a0001c0007t0001 a0001c0014t0001	a0001c0007t0001g0093 a0001c0007t0001g0094 a0001c0007t0001g0116 others(6): Show a0001c0007t0001g0093 a0001c0007t0001g0094 a0001c0007t0001g0116 a0001c0007t0001g0117 a0001c0007t0001g0118 a0001c0007t0001g0124 a0001c0007t0001g0339 a0001c0014t0001g0092 a0001c0014t0001g0095	9	352	0.0256	-158	c.363 others(17): Show c.363-4335_363-4178del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BPHL_chr6_3113711_3158578	3145717	CCAGCTGG others(151): Show CCAGCTGGAGTGCTGGTTTGGGTCGAGTGCTGGTTTGGGTCGAGTGCTGG TTCAGGTTGGAGTGCTGGTTCCGGCTAGAGTGCTGGTTTGGGTCGAGTGC TGGTTTGGGTCGAGTGCTGGTTCAGGTTGGAGTGCTGGTTCCGGCTGGAG TGCTGGTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(157): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp2 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0003c0006 a0004c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0002t0003 a0001c0004t0015 a0001c0010t0001 a0003c0006t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(110): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0008g0177 a0001c0001t0010g0036 a0001c0001t0011g0013 a0001c0002t0003g0040 a0001c0002t0003g0248 a0001c0002t0003g0252 a0001c0004t0015g0245 a0001c0010t0001g0239 a0003c0006t0001g0232 a0004c0007t0001g0006	160	350	0.4571	-158	c.788 others(17): Show c.788+5209_788+5366del	BPHL	ENSG00000137274.13	transcript	ENST00000380379.10	protein_coding	6/6			chr6	TogoVar
C1orf159_chr1_1076823_1121089	1080651	CCCCACCT others(151): Show CCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGT CTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCC ACCTCGGTCCCTGTCTCCTTCCCTCCGCCCCCACCTCGGTCCCTGTCTCC TTCCCTCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0282 a0001c0001t0002g0282	1	326	0.0031	-158	c.20 others(11): Show c.2084_*2241del	C1orf159	ENSG00000131591.18	transcript	ENST00000421241.7	protein_coding		1171		chr1	TogoVar
C7orf50_chr7_992006_1143247	1016312	CAGCAGCA others(151): Show CAGCAGCACACAGCAGCACAGCAGCACACAGCAGCGCACGCCAGCGCACA GCAGCACACGCCAGCACACAGCAGCACACGCCAGCACACAGCAGCACACA GCAGCGCACGCCAGCACACAGCAGCGCACGCCAGCACACAGCAGCGCACG CCAGCACAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG02630.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0309 a0001c0001t0011g0311 a0001c0001t0011g0309 a0001c0001t0011g0311	2	326	0.0061	-158	c.130 others(17): Show c.130-6327_130-6170del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CCDC73_chr11_32597721_32799662	32755634	TATATATG others(151): Show TATATATGTGTATATATATATCTCCATATATATGTGTATATATATATCTC CATATATATGTGTATATATATATCTCCATATATATGTGTATATATATATC TCCATATATATGTGTATATATATATATCTCCATATATATGTGTATATATA TATATCTCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0131 a0001c0003t0001g0131	1	312	0.0032	-158	c.135 others(17): Show c.135+4317_135+4474del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCDC73_chr11_32597721_32799662	32755953	CTATATAT others(151): Show CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATAT ATATCTATATATATATCTCCATATATATATCTATATATATATCTCCATAT ATATATCTA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02083.hp2 HG00597.hp1 HG02083.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0176 a0001c0004t0001g0201 a0001c0004t0001g0176 a0001c0004t0001g0201	2	312	0.0064	-158	c.135 others(17): Show c.135+3998_135+4155del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCDC73_chr11_32597721_32799662	32756265	CTATATAT others(151): Show CTATATATATATCTCCATATATATATCTATATATATATCTCCATATATAT ATCTATATATATATCTCCATATATATATCTATATATATATCTCCATATAT ATATCTATATATATATCTCCATATATATATCTATATATATATCTCCATAT ATATATCTA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02976.hp1 HG03579.hp2 HG01884.hp1 HG02976.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0214 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0214	3	312	0.0096	-158	c.135 others(17): Show c.135+3686_135+3843del	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCKAR_chr4_26476396_26495484	26492423	CCCTTCCT others(151): Show CCCTTCCTTCCTTCCTTCCTTTCCTTTCTTCCCTCCCTTCCTCCTTTCTT TCTCTCTCTCTTTCTTTCCTTTCTTCCCTCCCTCCCTCCTTTCTTTTTCT TTCTTTCTCTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01192.hp1 HG01884.hp1 others(11): Show HG00733.hp2 HG01192.hp1 HG01884.hp1 HG02451.hp2 HG02630.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp1 HG03130.hp1 HG03486.hp1 HG03516.hp1 NA18990.hp1 NA19074.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0007 a0007c0012 a0001c0001 a0004c0007 a0007c0012	a0001c0001t0001 a0001c0001t0002 a0004c0007t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0004c0007t0001 a0007c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0002g0003 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 a0004c0007t0001g0080 a0007c0012t0001g0077	14	454	0.0308	-158	c.-23 others(11): Show c.-2314_-2157del	CCKAR	ENSG00000163394.6	transcript	ENST00000295589.4	protein_coding		1940		chr4	TogoVar
CDCP1_chr3_45077277_45151378	45108770	TGCATGTA others(151): Show TGCATGTATACATATATATGCATGTATATATATATATGCATGTATACATA TATATGCATGTATATATATATATGCATGTATACATATATATGCATGTATA TATATATATGCATGTATACATATATATATATATGCATGTATACATATATA TATATATGC	T T	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp2 HG03041.hp1 others(1): Show HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0009 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0009 a0002c0002t0013	a0001c0001t0001g0189 a0001c0001t0003g0218 a0002c0002t0009g0374 others(1): Show a0001c0001t0001g0189 a0001c0001t0003g0218 a0002c0002t0009g0374 a0002c0002t0013g0026	4	384	0.0104	-158	c.102 others(19): Show c.1024+1545_1024+1702del	CDCP1	ENSG00000163814.8	transcript	ENST00000296129.6	protein_coding	4/8			chr3	TogoVar
CDK12_chr17_39456486_39539544	39499029	TTCTTTCT others(151): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	260	0.0039	-158	c.242 others(19): Show c.2420-2219_2420-2062del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP46_chr10_132803392_132947570	132895913	CGGTGAGA others(151): Show CGGTGAGAAGGCAGCCAGGCTCTGTGTGCCATGAGACACGGCGAGAAGGC AGCTAGGCTCTGTGTGCCATGAGACACGGCGAGAAGGCAGCCAGGCTCTG TGTGCCACATGAAGACACGGTGAGAAGGCAGCCAGGCTCTGTGTGCCACA TGAAGACAT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03453.hp2 HG03130.hp1 HG03453.hp2	a0012 a0072 a0012 a0072	a0012c0076 a0072c0075 a0012c0076 a0072c0075	a0012c0076t0001 a0072c0075t0001 a0012c0076t0001 a0072c0075t0001	a0012c0076t0001g0131 a0072c0075t0001g0235 a0012c0076t0001g0131 a0072c0075t0001g0235	2	246	0.0081	-158	c.321 others(19): Show c.3219+2888_3219+3045del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	24/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	36371678	ATATATGT others(151): Show ATATATGTGTGTATATACACACATGTGTATATATGTGTGTATATACACAC ATGTGTGTATATATGTGTGTATATACACACATGTGTGTATATACACACAT GTGTATATATGTGTGTATATACACACATGTATATATGTGTGCATATACAC ACATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp1 HG00673.hp1 others(30): Show HG00408.hp1 HG00621.hp1 HG00673.hp1 HG01109.hp1 HG01168.hp1 HG01257.hp2 HG01515.hp1 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02071.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp1 NA18940.hp1 NA18954.hp2 NA18962.hp1 NA18967.hp1 NA18968.hp1 NA18977.hp1 NA18992.hp1 NA18994.hp1 NA19000.hp1 NA19002.hp1 NA19030.hp2 NA19057.hp1 NA19068.hp1 NA19074.hp2 NA19082.hp1	a0002 a0003 a0008 others(2): Show a0002 a0003 a0008 a0025 a0036	a0002c0002 a0002c0013 a0002c0067 others(6): Show a0002c0002 a0002c0013 a0002c0067 a0003c0004 a0003c0014 a0003c0053 a0008c0009 a0025c0066 a0036c0040	a0002c0002t0001 a0002c0013t0001 a0002c0067t0001 others(6): Show a0002c0002t0001 a0002c0013t0001 a0002c0067t0001 a0003c0004t0001 a0003c0014t0001 a0003c0053t0001 a0008c0009t0001 a0025c0066t0001 a0036c0040t0001	a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 others(30): Show a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0166 a0002c0013t0001g0126 a0002c0013t0001g0127 a0002c0067t0001g0161 a0003c0004t0001g0041 a0003c0004t0001g0044 a0003c0004t0001g0059 a0003c0004t0001g0064 a0003c0004t0001g0067 a0003c0004t0001g0108 a0003c0004t0001g0125 a0003c0004t0001g0176 a0003c0014t0001g0098 a0003c0014t0001g0099 a0003c0053t0001g0056 a0008c0009t0001g0144 a0008c0009t0001g0148 a0008c0009t0001g0159 a0008c0009t0001g0164 a0008c0009t0001g0165 a0025c0066t0001g0170 a0036c0040t0001g0021	33	216	0.1528	-158	c.918 others(19): Show c.9185+4568_9185+4725del	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	62/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
COL2A1_chr12_47967967_48009476	47971731	TTATATTG others(151): Show TTATATTGTATAATAATATATGTATATATTATTATATTGTATAATAATAT ATGTATATATTATTATATTGTATAATAATATATGTATATATTATTATATT GTATAATAATATATGTATATATTATTATATTGTATAATAATATATAGGTA TATATTATC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01192.hp1 HG02109.hp2 others(18): Show HG01109.hp1 HG01192.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03225.hp2 HG03471.hp2 HG03688.hp2 HG04199.hp1 NA18906.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0001c0008 a0001c0047 others(3): Show a0001c0004 a0001c0008 a0001c0047 a0001c0051 a0003c0012 a0003c0030	a0001c0004t0001 a0001c0008t0001 a0001c0047t0001 others(3): Show a0001c0004t0001 a0001c0008t0001 a0001c0047t0001 a0001c0051t0001 a0003c0012t0002 a0003c0030t0002	a0001c0004t0001g0200 a0001c0008t0001g0009 a0001c0008t0001g0187 others(14): Show a0001c0004t0001g0200 a0001c0008t0001g0009 a0001c0008t0001g0187 a0001c0008t0001g0189 a0001c0008t0001g0198 a0001c0008t0001g0201 a0001c0008t0001g0202 a0001c0008t0001g0204 a0001c0008t0001g0222 a0001c0047t0001g0192 a0001c0051t0001g0205 a0003c0012t0002g0029 a0003c0012t0002g0064 a0003c0012t0002g0070 a0003c0012t0002g0071 a0003c0012t0002g0096 a0003c0030t0002g0100	21	414	0.0507	-158	c.15 others(11): Show c.1518_*1675del	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		1235		chr12	TogoVar
COQ5_chr12_120498279_120534158	120519630	GGAGGCTG others(151): Show GGAGGCTGAGGTGGGTGTATCACCTGAGGCTGGGAGTTCAAGACCAGCCT GACCAACATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCTGGG TGTGGTGGCACATGCCTGTAGTCCCAGCTACTTAGGAGGCCGAGGCAGGA AAATCGCTT	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	388	0.0026	-158	c.352 others(17): Show c.352+2426_352+2583del	COQ5	ENSG00000110871.15	transcript	ENST00000288532.11	protein_coding	2/6			chr12	TogoVar
DLEC1_chr3_38034208_38129025	38087296	GACACCAT others(151): Show GACACCATCCATCAGCACTGACACCATCCATCAGCATGCTCACACCATCC ATCAGCACTGACACCATCCATCAGCACTGACACCATCCATCAGCATGCTC ACACCATCCATCAGCACTGACACCATCCATTAGCACTGACACCATCCATC AGCATGCTC	G G	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0020 a0002c0009t0001g0020	1	298	0.0034	-158	c.157 others(17): Show c.1573-870_1573-713del	DLEC1	ENSG00000008226.20	transcript	ENST00000308059.11	protein_coding	9/36		INFO_REALIGN_3_PRIME	chr3	TogoVar
DLGAP2_chr8_732628_1713476	1406213	AGAGTCGT others(151): Show AGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCAGAG TCGTGTATTGAGAACTTACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGT GTATTGAGTGCTACTGAGCGCACCACAGTGCTTACTGAGCGCCACCTCCT CGTCCTCCT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-158	c.107 others(19): Show c.107-95123_107-94966del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK10_chr2_224760090_225047468	225018515	ATATATAT others(151): Show ATATATATATAATATATATGTAATATTATATATATATAATATATATGTAA TATTATATATATATAATATATATGTAATATTATATATATATAATATATAT GTAATATTATATATATAATATATATGTAATATTATATATATATAATATAT ATGTAATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02922.hp2 HG03195.hp2 others(2): Show HG02717.hp2 HG02922.hp2 HG03195.hp2 HG03579.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0002c0029 a0001c0004 a0002c0002 a0002c0029	a0001c0004t0001 a0002c0002t0001 a0002c0002t0003 others(1): Show a0001c0004t0001 a0002c0002t0001 a0002c0002t0003 a0002c0029t0007	a0001c0004t0001g0159 a0002c0002t0001g0158 a0002c0002t0001g0160 others(2): Show a0001c0004t0001g0159 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0003g0162 a0002c0029t0007g0161	5	172	0.0291	-158	c.123 others(19): Show c.123+23579_123+23736del	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
EFCAB6_chr22_43523778_43817305	43562561	AGGTGGGA others(151): Show AGGTGGGAGGGAGGCAGCCCGGTGGGGGGTTGGAGGGAGGCAGCCCAGGT CAGGGGTGGGAGGGAGGCAGCCTGGTGCGGGGTGGGAGGGAGGCAGCCCG GTGGGGGATGGGAGGGAGGCAGCCCAGGTCAGGGGTGGGAGGGAGGCAGC CTGGTGCGG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	290	0.0035	-158	c.342 others(19): Show c.3421-7623_3421-7466del	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	26/31			chr22	TogoVar
EIF3M_chr11_32578831_32611264	32581289	CTGTGTGT others(151): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTATTTTGAATGAATGAA AGTTTAAAGTTTTAAATAACTGAGGACAGGCATTTCCGCATTTCCTACTC AAATGTTGCATTTCCCAAGACTACTCGGGCCTACCACACCTCCATCGTGT GTGTGTGTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18970.hp1 NA18941.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	344	0.0058	-158	c.-25 others(11): Show c.-2598_-2441del	EIF3M	ENSG00000149100.13	transcript	ENST00000531120.6	protein_coding		2541		chr11	TogoVar
EIF4B_chr12_53001456_53047215	53030031	TGGCAACA others(151): Show TGGCAACATAGTGAGACCCCATCTCTGCAAAAAATACAAAAGTTAGCTGA GCGTGGTAGCATGTGCCTGTAGTCCCCGTGTCTTAGGAGACTGAGGTAGG AGGGTCGCTTGAGCCTGGGAGGTCAAGGCTGCAGTTAGCCAAGGTCTCAT TTCAGCTTG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03710.hp1 HG04228.hp1 others(8): Show HG01123.hp1 HG03710.hp1 HG04228.hp1 HG04228.hp2 NA18939.hp2 NA18956.hp2 NA18965.hp2 NA18975.hp2 NA18994.hp2 NA19056.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0024 a0001c0001t0001g0072 a0001c0001t0001g0095 others(8): Show a0001c0001t0001g0024 a0001c0001t0001g0072 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0010g0150	11	372	0.0296	-158	c.979 others(17): Show c.979+1879_979+2036del	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53030067	CAAAAGTT others(151): Show CAAAAGTTAGCTGAGCGTGGTAGCATGTGCCTGTAGTCCCCGTGTCTTAG GAGACTGAGGTAGGAGGGTCGCTTGAGCCTGGGAGGTCAAGGCTGCAGTT AGCCAAGGTCTCATTTCAGCTTGGGCAACATAGTGAGACCCCATCTCTGC AAAAAATAT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG06807.hp1 NA18522.hp1 others(2): Show HG02970.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0013 a0001c0005t0005 a0001c0005t0013	a0001c0005t0005g0009 a0001c0005t0013g0272 a0001c0005t0013g0312 others(1): Show a0001c0005t0005g0009 a0001c0005t0013g0272 a0001c0005t0013g0312 a0001c0005t0013g0334	5	372	0.0134	-158	c.979 others(17): Show c.979+2025_979+2182del	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
FAM161A_chr2_61819848_61859060	61848911	TATATTTA others(151): Show TATATTTATATATATTTATATATATATATTTATATATATTTATATATATA TTTATATATATATATATTTATATATTTATATATATTTATATATATATTTA TATATTTATATATATTTATATATATATTTATATATTTATATATATTTATA TATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02132.hp1 HG01192.hp1 HG02132.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0160 a0001c0003t0001g0163 a0001c0003t0001g0160 a0001c0003t0001g0163	2	400	0.0050	-158	c.183 others(17): Show c.183+4790_183+4947del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
FAM161A_chr2_61819848_61859060	61848934	ATATATTT others(151): Show ATATATTTATATATATTTATATATATATTTATATATATATATATTTATAT ATTTATATATATTTATATATATATTTATATATTTATATATATTTATATAT ATATTTATATATTTATATATATTTATATATATATAAATATATATATTTAT ATATATATT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0284 a0001c0001t0002g0284	1	400	0.0025	-158	c.183 others(17): Show c.183+4767_183+4924del	FAM161A	ENSG00000170264.13	transcript	ENST00000404929.6	protein_coding	1/6			chr2	TogoVar
GNA11_chr19_3089362_3128999	3115817	TGGAGGAG others(151): Show TGGAGGAGGGGTCATAGGGACTGAGTGGGGAGGAGGGGTCATAGGGACTG AGGCTGTGAGGGGAGGAGGGGTCATAGGGGCCGAGGCTGTCAGGGAAGAG GGGTCATGGGGACCGAGGCTGTGAGGGGAGGAGGGGTCGTGGGGACCGAG GCTTTGAGG	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02896.hp2 HG02897.hp1 others(8): Show HG02630.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03486.hp1 NA18942.hp2 NA18973.hp1 NA19054.hp2 NA19074.hp1 NA19084.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0039 a0001c0001t0040 others(1): Show a0001c0001t0012 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042	a0001c0001t0012g0007 a0001c0001t0012g0024 a0001c0001t0012g0025 others(5): Show a0001c0001t0012g0007 a0001c0001t0012g0024 a0001c0001t0012g0025 a0001c0001t0012g0080 a0001c0001t0012g0081 a0001c0001t0039g0007 a0001c0001t0040g0086 a0001c0001t0042g0085	11	425	0.0259	-158	c.605 others(15): Show c.605+782_605+939del	GNA11	ENSG00000088256.9	transcript	ENST00000078429.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
HAUS1_chr18_46099385_46133333	46112446	GTATATAT others(151): Show GTATATATTCCATATTATATATATAATATATATAATGTGTATATATTCCA TATTATATATATAATATATATAATGTGTATATATATTCCATATTATATAT ATAATATATATAATGTGTATATATATTCCATATTATATATATAATATATA TAATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02572.hp2 HG01934.hp1 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0209 a0001c0001t0001g0158 a0001c0001t0001g0209	2	372	0.0054	-158	c.206 others(17): Show c.206-5689_206-5532del	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar

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