Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ANKRD11_chr16_89262630_89495561	89429270	ACGCTCAG others(371): Show ACGCTCAGACGTTCTAGTACACAGCAGGTACTCTCAACTCTCGCGCTCAG ACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTA GTACACAGCAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAG CAGGGACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACT CTCAACTCTCGCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTC TCAGGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTC AGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCAGGCTCAGTCGTTC TAGTACACAGCAGGGACTCTCAACTCTCG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0012 a0012	a0012c0057 a0012c0057	a0012c0057t0001 a0012c0057t0001	a0012c0057t0001g0122 a0012c0057t0001g0122	1	310	0.0032	-378	c.-14 others(21): Show c.-144-11280_-144-10903del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12						chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89429648	GCGCTCAG others(371): Show GCGCTCAGTCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAG TCGTTCTAGTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTA GTACACAGCAGGGACTCTCAACTCTCACGCTCAGTCGTTCTAGTACACAG CAGGTACTCTCAACTCTCGCGCTCAGACGTTCTAGTACACAGCAGGGACT CTCAACTCTCACGCTCAGACGTTCTAGTACACAGCAGGTACTCTCAACTC TCGCGCTCAGACGTTCTAGTACACAGCAGGGACTCTCAACTCTCGCGCTC AGACGTTCTAGTACACAGCAGGGATTCTCAACTCTCACGCTCAGTCGTTC TAGTACACAGCAGGGATTCTCAACTCTCA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0259 a0004c0004t0001g0259	1	310	0.0032	-378	c.-14 others(21): Show c.-144-11658_-144-11281del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	1/12						chr16	TogoVar
ART1_chr11_3640128_3669416	3653752	GCCCATCA others(371): Show GCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTATC CTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCT ACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGACATCAAGTCTTGTA AATTCCACCTCCTACCTCTGTCTATCCTCACTGCCATTCTCCCATCAGAC ATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTGTCCTCACTGCCAT TCTCCCATCAGACATCAAGTCTTGTAAATTCCACCTCCTACCTCTGTCTG TACTCACTGCCATTCTCCCATCAGACATCAAGTTTTGTAAATTCCAACTC CTACCTCTGTCTATCCTCACTGCCATTCT	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	394	0.0025	-378	c.-52 others(17): Show c.-52-5111_-52-4734del		ART1	ENSG00000129744.3	transcript	ENST00000250693.2	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
BDH1_chr3_197504783_197560968	197518159	CATCAGTC others(371): Show CATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTGACCC CCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCCTCAGGCTG ACCCCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCCCTCAG GCCGACCCCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCC TCAGGCCGACCCCCCCCATCAGTCACTTCCTGCTCTATGGACTCCATCCC CCCCTCAGGCCGACCTCCCCGATCAGTCACTTCCTGCTCTATGGTCTCCA TCTCCCCCTCAGGCTGACCCCCCCGATCAGTCACTTCCTGCTCTATGGTC TCCATCCCCCCCTCAGGCCGACCCCCCCG	C C	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA19010.hp1 NA19079.hp2 NA18973.hp1 NA19010.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0169 a0001c0001t0216 a0001c0001t0015 a0001c0001t0169 a0001c0001t0216	a0001c0001t0015g0160 a0001c0001t0169g0150 a0001c0001t0216g0161 a0001c0001t0015g0160 a0001c0001t0169g0150 a0001c0001t0216g0161	3	319	0.0094	-378	c.409 others(17): Show c.409+4103_410-3744del		BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7						chr3	TogoVar
BRSK2_chr11_1384934_1467689	1430899	CCAGCAGT others(371): Show CCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCA GCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCA GTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTG AGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGC GTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCT	C C	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18964.hp1 NA18994.hp2 NA18944.hp1 NA18964.hp1 NA18994.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0002c0002t0002 a0001c0001t0001 a0001c0001t0009 a0002c0002t0002	a0001c0001t0001g0099 a0001c0001t0009g0187 a0002c0002t0002g0155 a0001c0001t0001g0099 a0001c0001t0009g0187 a0002c0002t0002g0155	3	360	0.0083	-378	c.92- others(15): Show c.92-4953_92-4576del		BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr11	TogoVar
C2CD4C_chr19_400445_414147	404034	GGGGACGG others(371): Show GGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCC GAGGGGTCTGAGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGA CGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGGTCCTGCCCTGAGGG GTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTGTGGGGGGGACGGGG TCCTGCCCTGAGGGGTGTGGGGGGGACGGGTCCTGTCCTGAGGGGTCTGA GGGGGGGACGGGGTCCTGCCCTGAGGGGGTGTGGGGGGGACGGGGTCCTG CCCTGAGGGGTGTGGGGGGGGGACGGGGTCCTGCCCTGAGGGGTCTGAGG GGGGGACGGGGTCCTGCCCTGAGGGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	322	0.0031	-378	c.26 others(11): Show c.2684_*3061del		C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding					1410		chr19	TogoVar
C7orf50_chr7_992006_1143247	1116105	GGCTTCCA others(371): Show GGCTTCCATCACCAATGCCCATGCAGGATGACATAACTACAGCTCTACGG ACCGGCTTCCATCACCAACGCCCACGCAGGATGACATCACTACAGCTCTA GGGACTGGCTTCCATCACCAACGCCCACGCAGGATGACTTCACTACAGCT CTACGGACCGGCTTCCATCACCAAGGCCCACGCAGGATGACATCACTACA GCTCTACGGACAGGCTTCCATCACCAACGCCCATGCAGGATGATGACATC ACTACAGCTCTAGGGACAGCTTCCATCACCGACGCCCACGCAGGATGATG ACATGACTGCAGCTCTACGGACCGGCTTCCATCACCGACGTCCACGCAGG ATGATGACATCACTGCAGTTCTAGGACCA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0277 a0001c0001t0011g0277	1	326	0.0031	-378	c.129 others(19): Show c.129+10774_129+11151del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C7orf50_chr7_992006_1143247	1127949	CCTGTCAC others(371): Show CCTGTCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCG TCACCCGGGCTGGAGTGCAGTGGCACGATCTCGGCTCATCCCACCGTCAC CCGGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCTCACCGTCACCCGG GCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTG GAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGT GCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGCAG TGGCGCCATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGCAGTGGC ACAATCTCGGCTCATCCCACCGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02622.hp1 NA21309.hp2 HG01099.hp1 HG02622.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0237	3	326	0.0092	-378	c.-1- others(13): Show c.-1-941_-1-564del		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4						chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88933252	GCACGCCT others(371): Show GCACGCCTCACAGTGCCACACGTCTGCACGCCTCTGCACACGTCACGTGC CTCTATACGCCTCACACGCCTCACAGTGCCACACGTCTGCACGCCTCTGC ACACGTCACGTGCCTCTATACGCCTCACACGCCTCACAGTGCCACACGTC TGCACGCCTCTGCACACGTCACGTGCCTCTATACGCCTCACACGCCTCAC AGTGCCACACGTCTGCACGCCTCTGCACACGTCACGTGCCTCTATACGCC TCACACGCCTCACAGTGCCACACGTCTGCACGCCTCTGCACACGTCACGT GCCTCTATACGCCTCACACGCCTCACAGTGCCACACGTCTGCACGCCTCT GCACACGTCACGTGCCTCTATACGCCTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00544.hp2 others(57): Show HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01255.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG02135.hp1 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG03017.hp1 HG03195.hp2 HG03579.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18970.hp2 NA18983.hp2 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19057.hp2 NA19065.hp1 NA19079.hp2 NA19085.hp2 NA19088.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0009	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0004c0023 a0009c0019	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(11): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0016 a0001c0001t0020 a0001c0001t0031 a0001c0002t0035 a0001c0003t0001 a0001c0003t0004 a0001c0005t0012 a0002c0004t0001 a0004c0023t0001 a0009c0019t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(57): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0006g0002 a0001c0001t0006g0003 a0001c0001t0008g0179 a0001c0001t0009g0135 a0001c0001t0009g0160 a0001c0001t0016g0023 a0001c0001t0020g0262 a0001c0001t0031g0232 a0001c0002t0035g0284 a0001c0003t0001g0204 a0001c0003t0004g0199 a0001c0003t0004g0200 a0001c0005t0012g0184 a0002c0004t0001g0138 a0002c0004t0001g0149 a0002c0004t0001g0161 a0004c0023t0001g0280 a0009c0019t0001g0207	60	284	0.2113	-378	c.152 others(19): Show c.152-31974_152-31597del		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CFAP54_chr12_96484577_96880555	96827154	ATTATATG others(371): Show ATTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATAT AGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTAT ATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGA TTATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATAT GTGATTATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTT ATATGTGATTATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGC AGTTATATGTGATTATATATAGTGTGCAG	A A	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0241 a0003c0002t0001g0241	1	268	0.0037	-378	c.909 others(19): Show c.9097-1840_9097-1463del		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67					INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN6_chr3_1088024_1409217	1102656	GGGCGGAG others(371): Show GGGCGGAGCTTGCAGTGAGCAGAGATGGCGCCACCGCCCTCCAGCCTGGG CGACAGGGCGAGACTCCGTCTCAAAAAATAAATAAATACATAAATAAGAA ATAGACATGCATTAAAATAATAGGTAGGCTATATAATACACAGAAAACAT TTATACAAAATTAATGTCCAGGCCGGGAGCTGTGGCTCACGCCTGTAATC CCAGCACTTTTGGAGGCCGAGGCGGGCGGATCACGAGATCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACCAAAAATACAAGA AATTAGCCGGGCGTGGTGGCGGCGCCTGTGGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0218 a0001c0008t0001g0218	1	232	0.0043	-378	c.-83 others(17): Show c.-83+9556_-83+9933del		CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr3	TogoVar
COQ8A_chr1_226935294_226992544	226978563	GCCACACA others(371): Show GCCACACACCACCTTACACACTCTCCACACACTCTACCCTCTACACACCC GCCCACCTTACACTCCACACACCCGCCCACCTCCTTACCCTCCACACACC TGCCCACCTCCTTACACACCCTCCACACACCTGCACACCTCCTTACATCT TCCACACACCCACCTCATACCTGCACACCTCCTTACACACCCACCTCACA CCCGCATACCTCCGTACACACCCACCTCTCACCCGCACAGCTCCTTACAC ACCCTCCATGCACACACCTCCTTACACACCCACCTCATACCTGCACACCA CCTTACACACCCTCCACACACCCACCAATCACCCACTGAACACTGCACCT CCTTACCCCTCCACACACCCACCACACAC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18984.hp1 NA18990.hp1 others(2): Show NA18945.hp2 NA18984.hp1 NA18990.hp1 NA18994.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 others(2): Show a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0183	5	412	0.0121	-378	c.730 others(17): Show c.730+1050_730+1427del		COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	5/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
CTDP1_chr18_79674803_79759503	79752388	GTAAGGAA others(371): Show GTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCGTAAGGAA AGCCTAGTGGCACCCGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGT GGCACCGGCTGGTTATGCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGG CTGGTTATGCAGAGGCTCCTAAGGAAAGCCTAGTGGCACCGGCTGGTTAT GCAGAGGCTCGTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGC TCGTAAGGAAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCGTAAGG AAAGCCTAGTGGCACCGGCTGGTTATGCAGAGGCTCCTAAGGAAAGCCTA GTGGCACCCGCTGGTTATGCAGAGGCTCC	G G	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0348 a0001c0007t0003g0348	1	378	0.0027	-378	c.274 others(18): Show c.2748-1200_2748-823del		CTDP1	ENSG00000060069.18	transcript	ENST00000613122.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr18	TogoVar
DLGAP2_chr8_732628_1713476	992415	GGACCCCC others(371): Show GGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTACCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCTCCTTGCCTGGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCACCTTGCCCA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0011 a0001c0002t0006g0011	1	40	0.0250	-378	c.73+ others(17): Show c.73+84494_73+84871del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	992955	AGACCCCC others(371): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCT CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCTCCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCACCTTACCCG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0007	1	40	0.0250	-378	c.73+ others(17): Show c.73+85088_73+85465del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375616	TCTCTCCA others(371): Show TCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAAC GACCCCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGGT TAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTT GGGTTAACGACATCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTAC ATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTC CTACATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCA CCTCCTACATTTGGGTTAACGACATCTCTCCACGGCCTCAGAACTGAGCC CCCACCTCCTACATTTGGGTTAACGACCC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18906.hp1 HG02647.hp2 NA18906.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0008 a0002c0001 a0004c0008	a0002c0001t0002 a0004c0008t0016 a0002c0001t0002 a0004c0008t0016	a0002c0001t0002g0013 a0004c0008t0016g0029 a0002c0001t0002g0013 a0004c0008t0016g0029	2	40	0.0500	-378	c.106 others(21): Show c.106+116786_106+117163del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375669	CCCTCTCC others(371): Show CCCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGGTTAA CGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATTTGGG TTAACGACATCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTACATT TGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCTCCTA CATTTGGGTTAACGACACCTCTCCACGGCCTCAGAACTGAGCCCCCACCT CCTACATTTGGGTTAACGACATCTCTCCACGGCCTCAGAACTGAGCCCCC ACCTCCTACATTTGGGTTAACGACCCCTCTCCACGGCCTCAGAACTGAGC CCCCACCTCCTACATTTGGGTTAACGACA	C C	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG03492.hp2 others(2): Show HG01071.hp2 HG01496.hp1 HG03492.hp2 HG03710.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0004 a0001c0002 a0002c0001 a0002c0004	a0001c0002t0002 a0001c0002t0010 a0002c0001t0003 others(2): Show a0001c0002t0002 a0001c0002t0010 a0002c0001t0003 a0002c0001t0011 a0002c0004t0003	a0001c0002t0002g0021 a0001c0002t0010g0008 a0002c0001t0003g0022 others(2): Show a0001c0002t0002g0021 a0001c0002t0010g0008 a0002c0001t0003g0022 a0002c0001t0011g0001 a0002c0004t0003g0009	5	40	0.1250	-378	c.106 others(21): Show c.106+116851_106+117228del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERC1_chr12_986223_1500931	1122223	ATCTCTAT others(371): Show ATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTAT CTGTGTCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCT CTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTGT GTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTAT CTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCT GTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTATCTGTGT CTCTATCTCTATCTCTATCTCTATCTGTG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0141 a0001c0001t0058g0141	1	162	0.0062	-378	c.156 others(19): Show c.1569+6206_1569+6583del		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
FRYL_chr4_48492357_48785279	48659402	AAGGAGAA others(371): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAAGAGGAAGAGGAAGAGGAA GAGGGAGAAGAGGAAGAGGGAGAAGAGGAAGAGGGAGAAGAAGAAGAGGG AGAAGAAGAAGAGGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAG AGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGA GAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGG AGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAG AGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGAGAAGGAGAAGAGGGA GAAGGAGAAGAGGGAGAAGGAGAAGAGGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01358.hp2 HG01361.hp1 HG00323.hp2 HG01358.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131	3	282	0.0106	-378	c.-81 others(19): Show c.-81+24893_-80-24913del		FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63						chr4	TogoVar
GZMM_chr19_539053_554922	540232	CCCCCCGG others(371): Show CCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGTTTA GAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGC CGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAG GCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTT TAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAG GCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCC AGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGG TTTAGAATCCGGAGGCCGGGGTGGCCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	398	0.0025	-378	c.-38 others(11): Show c.-3839_-3462del		GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding					3820		chr19	TogoVar
HSD17B3_chr9_96230306_96307176	96302545	AGATTCTG others(371): Show AGATTCTGGTAGCAGGGACAGATGATGAGCAGATAAATAAGATAACATCA GATGGGGCAGTGGCTCACGCCCATAATCCCAACATTTTGGGAAGCCAAGG CAGGCGGGTCACATGAAGTCAAGAGTTCAAGACCAGCCTGGCCAACATGG TGAAACCTCATCTCTACTTAAAATACAAAAATTAGCCAGGCCTGGTGGTG GGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTG AACTTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCATTGCACTCC AGCCTGGGTGACAGAGTGAGATTCTGTCTCAAAAAAAAAAAAAAGATAAC ATCAGTGCTATGAAAAAGCACTATTGAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0338 a0002c0002t0002g0338	1	374	0.0027	-378	c.-81 others(9): Show c.-819_-442del		HSD17B3	ENSG00000130948.10	transcript	ENST00000375263.8	protein_coding					370		chr9	TogoVar
HSPA6_chr1_161519540_161531894	161531516	TAGCCACG others(371): Show TAGCCACGCACTATTGAGCACGTGAACTTGGCTAGTTTCTCTAAGAAACT GCATTTTCAAATTTAGTCTTAGTAAATAAATCAATTGAAATAAAATTAAT AAGTGAAAATTTTAAAATGGATACTTAATAACTCAACCATTGGAGAAGGT TTCAGTGCATTTGAAACAACGTGGCTATTGAATCTACTTTTTCAATTGTA AATTTTATGAAATCTAAATACGGATTTTTTTCCGAAGAAAATTTCCTTTC CGAGTTGAAATGTGCCGTCTTTAAGTGTAAAATACATAGCGATTTTTGAA GACTAGCTAAGAAAAAAAAAAACAGCCAATTAATATTTTTATATTGATTA CTTGTAATATTTTGCATACGTTGGGTTAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0005 a0005c0018t0005	a0005c0018t0005g0000 a0005c0018t0005g0000	1	456	0.0022	-378	c.49 others(11): Show c.4927_*5304del		HSPA6	ENSG00000173110.8	transcript	ENST00000309758.6	protein_coding					4623		chr1	TogoVar
INF2_chr14_104684618_104727535	104720478	CCTCGTGT others(371): Show CCTCGTGTGGATGCTGCTGTGGACATCTGCGTAGTCTCGTGTGGATGCTG CTGTGAACGTCTGCGTAGTCTCGTGTGGATGCTGCTGTGGACGTCTGCGT AGTCTCGTGTGGATGCTGCTGTGCACGTCTGCGTCGTCCTCGTGTGGATG CTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCT GCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCTCGTGTG GATGCTGCTGTGGACGTCTGCGTCGTCTCGTGTGGATGCTGCTGTGGACG TCTGCGTCGTCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGT GTGGATGCTGCTGTGGACGTCTGCGTCGT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0088 a0001c0001t0088	a0001c0001t0088g0001 a0001c0001t0088g0001	1	380	0.0026	-378	c.17 others(11): Show c.1709_*2086del		INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23				5163	INFO_REALIGN_3_PRIME	chr14	TogoVar
INPP5A_chr10_132532787_132788480	132771721	GGGACAGA others(371): Show GGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCCATGAA GAGTGGGACGGACACTCAGCACTGACACGGAGGCCCAGGCAGCCGCCCCG TGAAGAGTGGGGCACTCAGCACTGACACGGAGGCCACAGCAGCCACCCCG CGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCAC CCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAG CCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACA GCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGC CACAGCAGCCACCCGATGAAGAGTGGGAC	G G	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	204	0.0049	-378	c.977 others(17): Show c.977+5881_978-5567del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772154	AGACACTC others(371): Show AGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTG GGACGGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCGATGAAG AGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAGCCACCCCAC GAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACC CCATGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCACGGCAGC CACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACGG CAGCCACCCCATGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCC ACAGCAGCCACCCGATGAAGAGTGGGACG	A A	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	204	0.0049	-378	c.978 others(17): Show c.978-5489_978-5112del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772405	ACCCCACG others(371): Show ACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACGGC AGCCACCCCATGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCA CAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAG GCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACAC AGAGGCCACGGCAGCCACCCCACGAAGAGTGGGACGGACACTCAGCACTG ACACAGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGC ACTGACACGGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACT CAGCACTGACACGGAGGCCACGGCAGCCG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0078 a0001c0001t0014g0078	1	204	0.0049	-378	c.978 others(17): Show c.978-5257_978-4880del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772465	TGAAGAGT others(371): Show TGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCAC CCGATGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGCCACGGCAG CCACCCCACGAGGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACG GCAGCCACCCCACGAAGAGTGGGACGGACACTCAGCACTGACACAGAGGC CACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGACACGG AGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCACTGAC ACGGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGACACTCAGCAC TGACACGGAGGCCACGGCAGCCGCCCCAC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	204	0.0049	-378	c.978 others(17): Show c.978-5193_978-4816del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132772497	AGAGGCCA others(371): Show AGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTG ACACAGAGGCCACGGCAGCCACCCCACGAGGAGTGGGACAGACACTCAGC ACTGACACAGAGGCCACGGCAGCCACCCCACGAAGAGTGGGACGGACACT CAGCACTGACACAGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGACGGA CACTCAGCACTGACACGGAGGCCACGGCAGCCGCCCCACGAAGAGTGGGA CGGACACTCAGCACTGACACGGAGGCCACGGCAGCCGCCCCACGAAGAGT GGGACGGACACTCAGCACTGACACGGAGGCCACGGCAGCCGCCCCACGAA GAGTGGGACGGACACTCAGCACTGACACG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0199 a0001c0003t0004g0199	1	204	0.0049	-378	c.978 others(17): Show c.978-5165_978-4788del		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5F_chr10_119721050_119834147	119794555	GTGGCCGG others(371): Show GTGGCCGGGCAGAGGGGCTCCTCACTTTCCAGTAGGGGCGGCCGGGCAAA GGCGCCCCTCACCTCCCGTACGGGGCGGCTGGCCAGGTGGGGGGCTGACC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCTCCCAGAAGGGGCGGCTGGCCGGGCGGGGGTCTGACCC CCTCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGATGGGGCGGC	G G	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18993.hp1 NA18968.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0086 a0001c0001t0001g0053 a0001c0001t0001g0086	2	328	0.0061	-378	c.670 others(17): Show c.670-2133_670-1756del		INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	6/19					INFO_REALIGN_3_PRIME	chr10	TogoVar
JPH2_chr20_44101590_44192188	44133962	TATATTAT others(371): Show TATATTATAATATATAAATATATATTATTATAAATATATATAAATATATA TATTATAAATATATATAAATATATATTTATATATAAATATATATTTATTA TAAATATATAAATATATATTTATTATAAATATATATTTATTATAAATATA TAAATAAATATTTATTATAAATATATAAATAAATATTTATTATAAATATA TAAATATTTATTATAAATATATAAATATTTATTATAAATATATAAATATA TATTTATTATAAATATATATAAATATTTATTATAAATACATATAAATAAA TATTTATTATATATACATATAAATATTTATTATAAATATAATAAATATTT ATTATAAATATATAATAAATATATAATAA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02809.hp2 HG02976.hp1 others(1): Show HG01261.hp2 HG02809.hp2 HG02976.hp1 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 others(1): Show a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0006g0174	4	338	0.0118	-378	c.117 others(21): Show c.1170-15717_1170-15340del		JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5						chr20	TogoVar
MBD3L3_chr19_7051207_7063676	7054097	TTATATAA others(371): Show TTATATAAAATTATATCATATTGTATTATAATTATATATTATATATAATA TAGTTATGTATAATTATATATTATATAATATAATATATATTATATTATAT AATTAATATATATAATTATATATAATAATTAGATACCTATATATTATATA ATTATATTATATAATTAATAAATATATTACATATAATTATATAAATATAA TATATAAATATAATTATAATACATAATATATATAATTATATAATATATAA ATTATATTTTAATATATATAATTATATAATATACAAATTATAATTTAATA TATAATATGTATAATTATATACTATATAAATTATATTATAATTTATAATA TAATTATATAACATATAAATTATATTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0000 a0000	a0000c0000 a0000c0000	a0000c0000t0000 a0000c0000t0000	a0000c0000t0000g0000 a0000c0000t0000g0000	1	288	0.0035	-378	c.18 others(11): Show c.1847_*2224del		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					2109		chr19	TogoVar
MLPH_chr2_237482251_237560322	237543544	GGGGGACA others(371): Show GGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAG TGGGAGGACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGGACAGTGGTG AGTGGGGACAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGG TGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGT GGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACA GTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACG GTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGGGGA CAGTGGTGAGTGGGAGGACAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	286	0.0035	-378	c.153 others(18): Show c.1539+905_1539+1282del		MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr2	TogoVar
NPIPB11_chr16_29376310_29411711	29381727	GAGGTGTC others(371): Show GAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCGCAGA CGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGTTGGAGCTGAGGG TGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCG CTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTA TCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTC GGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCGCA GACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGTTTGGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03710.hp1 HG03710.hp1	a0070 a0070	a0070c0117 a0070c0117	a0070c0117t0002 a0070c0117t0002	a0070c0117t0002g0307 a0070c0117t0002g0307	1	428	0.0023	-378	c.282 others(9): Show c.2827_3204del	p.Ser others(14): Show p.Ser943_Pro1068del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5951/6369	2827/3486	943/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29381850	CGGAAGGT others(371): Show CGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGC AGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGA GGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCAT CGGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATA TTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACG TTTGGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCC GCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCT GAGGGTGGAAGGGGAGTGAGCTGACGTTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19043.hp2 NA19043.hp2	a0135 a0135	a0135c0052 a0135c0052	a0135c0052t0021 a0135c0052t0021	a0135c0052t0021g0041 a0135c0052t0021g0041	1	428	0.0023	-378	c.270 others(9): Show c.2704_3081del	p.Lys others(14): Show p.Lys902_Ser1027del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	5828/6369	2704/3486	902/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383249	GGAAGGTG others(371): Show GGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCA GATGCTCGGCAGTTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAG GGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATC CGCTGAGGGTGGAAGCGGCCCCCGCAGATGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCAGAAGGTGTCTTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCG CAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTG AGGGTGGAAGGGGAGTGAGCTGACGCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19002.hp2 NA19065.hp1 NA19002.hp2 NA19065.hp1	a0046 a0046	a0046c0045 a0046c0045	a0046c0045t0001 a0046c0045t0001	a0046c0045t0001g0007 a0046c0045t0001g0007	2	428	0.0047	-378	c.130 others(9): Show c.1305_1682del	p.Glu others(13): Show p.Glu436_Ser561del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4429/6369	1305/3486	435/1161			chr16	TogoVar
NPIPB11_chr16_29376310_29411711	29383311	TTGTCTTG others(371): Show TTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGA GTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGG AAGCGGCCCCCGCAGATGCTCGGCAGGTGTCTTGATATTATCATCTGCTG AGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCAGAAGGTGTC TTGAGATTATCATCGGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGC AGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGG GAGTGAGCTGACGCTCAGAAGGTGTCTTGAGATTATCATCCGCTGAGGGT GGAAGCGGCCCCCGCAGATGCTCGGCAGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01106.hp2 HG01358.hp2 HG02145.hp2 others(18): Show HG01106.hp2 HG01358.hp2 HG02145.hp2 HG02630.hp1 HG02647.hp2 HG02738.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03139.hp2 HG03486.hp2 HG03540.hp1 NA18906.hp1 NA18950.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA20129.hp2	a0016 a0017 a0029 others(8): Show a0016 a0017 a0029 a0043 a0050 a0092 a0109 a0110 a0126 a0130 a0131	a0016c0016 a0017c0031 a0017c0039 others(9): Show a0016c0016 a0017c0031 a0017c0039 a0029c0028 a0043c0030 a0050c0158 a0092c0064 a0109c0134 a0110c0157 a0126c0138 a0130c0150 a0131c0151	a0016c0016t0001 a0017c0031t0002 a0017c0039t0002 others(10): Show a0016c0016t0001 a0017c0031t0002 a0017c0039t0002 a0029c0028t0001 a0043c0030t0001 a0043c0030t0037 a0050c0158t0040 a0092c0064t0009 a0109c0134t0001 a0110c0157t0001 a0126c0138t0002 a0130c0150t0001 a0131c0151t0001	a0016c0016t0001g0084 a0016c0016t0001g0085 a0016c0016t0001g0087 others(18): Show a0016c0016t0001g0084 a0016c0016t0001g0085 a0016c0016t0001g0087 a0016c0016t0001g0088 a0016c0016t0001g0089 a0017c0031t0002g0248 a0017c0031t0002g0249 a0017c0039t0002g0285 a0017c0039t0002g0330 a0029c0028t0001g0090 a0029c0028t0001g0092 a0029c0028t0001g0196 a0043c0030t0001g0086 a0043c0030t0037g0397 a0050c0158t0040g0400 a0092c0064t0009g0391 a0109c0134t0001g0074 a0110c0157t0001g0076 a0126c0138t0002g0318 a0130c0150t0001g0071 a0131c0151t0001g0093	21	428	0.0491	-378	c.124 others(9): Show c.1243_1620del	p.Pro others(13): Show p.Pro415_Thr540del	NPIPB11	ENSG00000254206.6	transcript	ENST00000698511.1	protein_coding	8/8	4367/6369	1243/3486	415/1161			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21835108	GGCTGAGG others(371): Show GGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATAT TATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGC TCGGAAGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCG CAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTG AGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCA TCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGAT ATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGAC GCTCGGAAGGTGTCTTGAGATTATCATCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp1 HG00423.hp1 HG00597.hp1 others(55): Show HG00408.hp1 HG00423.hp1 HG00597.hp1 HG01123.hp1 HG01255.hp2 HG01346.hp2 HG01496.hp1 HG01943.hp1 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG03579.hp2 HG04204.hp2 NA18947.hp1 NA18947.hp2 NA18953.hp1 NA18959.hp2 NA18960.hp1 NA18966.hp2 NA18971.hp2 NA18979.hp1 NA18980.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19091.hp1 NA20300.hp2 NA21309.hp1	a0002 a0005 a0006 others(18): Show a0002 a0005 a0006 a0014 a0018 a0024 a0025 a0032 a0033 a0038 a0047 a0048 a0050 a0063 a0069 a0070 a0073 a0077 a0087 a0089 a0090	a0002c0001 a0005c0003 a0006c0005 others(19): Show a0002c0001 a0005c0003 a0006c0005 a0014c0014 a0018c0022 a0024c0076 a0024c0081 a0025c0066 a0032c0070 a0033c0072 a0038c0037 a0047c0042 a0048c0044 a0050c0075 a0063c0084 a0069c0082 a0070c0085 a0073c0049 a0077c0041 a0087c0095 a0089c0099 a0090c0097	a0002c0001t0001 a0005c0003t0001 a0006c0005t0001 others(19): Show a0002c0001t0001 a0005c0003t0001 a0006c0005t0001 a0014c0014t0001 a0018c0022t0001 a0024c0076t0001 a0024c0081t0001 a0025c0066t0001 a0032c0070t0001 a0033c0072t0001 a0038c0037t0001 a0047c0042t0002 a0048c0044t0001 a0050c0075t0001 a0063c0084t0001 a0069c0082t0001 a0070c0085t0001 a0073c0049t0001 a0077c0041t0001 a0087c0095t0001 a0089c0099t0001 a0090c0097t0001	a0002c0001t0001g0006 a0002c0001t0001g0015 a0002c0001t0001g0016 others(55): Show a0002c0001t0001g0006 a0002c0001t0001g0015 a0002c0001t0001g0016 a0002c0001t0001g0020 a0002c0001t0001g0022 a0002c0001t0001g0023 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0028 a0002c0001t0001g0029 a0002c0001t0001g0031 a0002c0001t0001g0033 a0002c0001t0001g0034 a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0041 a0002c0001t0001g0202 a0005c0003t0001g0116 a0005c0003t0001g0120 a0005c0003t0001g0131 a0005c0003t0001g0132 a0005c0003t0001g0133 a0005c0003t0001g0134 a0005c0003t0001g0150 a0005c0003t0001g0151 a0005c0003t0001g0161 a0005c0003t0001g0170 a0005c0003t0001g0178 a0006c0005t0001g0005 a0006c0005t0001g0047 a0006c0005t0001g0049 a0006c0005t0001g0051 a0006c0005t0001g0053 a0006c0005t0001g0054 a0006c0005t0001g0062 a0006c0005t0001g0065 a0014c0014t0001g0071 a0014c0014t0001g0072 a0014c0014t0001g0073 a0018c0022t0001g0052 a0018c0022t0001g0067 a0024c0076t0001g0038 a0024c0081t0001g0024 a0025c0066t0001g0043 a0032c0070t0001g0021 a0033c0072t0001g0003 a0038c0037t0001g0119 a0047c0042t0002g0112 a0048c0044t0001g0012 a0050c0075t0001g0060 a0063c0084t0001g0032 a0069c0082t0001g0025 a0070c0085t0001g0030 a0073c0049t0001g0044 a0077c0041t0001g0074 a0087c0095t0001g0093 a0089c0099t0001g0098 a0090c0097t0001g0096	58	204	0.2843	-378	c.290 others(9): Show c.2901_3278del	p.Asp others(14): Show p.Asp968_Ala1093del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	3493/4020	2901/3669	967/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21835643	TCGGCAGG others(371): Show TCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGG AAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTG AGGGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCA TCTGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGA AGGTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGAC GCTCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATCTGCTGAGGG TGGAGCTGAGTGTGGAAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGA GATTATCATCCGCTGAGGGTGGAAGCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG02055.hp2 HG03041.hp1 HG00408.hp2 HG02055.hp2 HG03041.hp1	a0022 a0067 a0022 a0067	a0022c0023 a0067c0083 a0022c0023 a0067c0083	a0022c0023t0001 a0067c0083t0001 a0022c0023t0001 a0067c0083t0001	a0022c0023t0001g0063 a0022c0023t0001g0064 a0067c0083t0001g0037 a0022c0023t0001g0063 a0022c0023t0001g0064 a0067c0083t0001g0037	3	204	0.0147	-378	c.236 others(9): Show c.2366_2743del	p.Gly others(13): Show p.Gly789_Ala914del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	2958/4020	2366/3669	789/1222			chr16	TogoVar
NPIPB4_chr16_21829582_21862756	21836647	GGCAGGTG others(371): Show GGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGGAA GGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTGAG GGTGGAAGCGGCCCCCGCAGACGCTCGGCAGGTGTCTTGATATTATCATC TGCTGAGGGTGGAGCTGAGGGTGGAAGGGGAGTGAGCTGACGCTCGGAAG GTGTCTTGAGATTATCATCCGCTGAGGGTGGAAGCGGCCCCCGCAGACGC TCGGCAGGTGTCTTGATATTATCATCTGCTGAGGGTGGAGCTGAGGGTGG AAGGGGAGTGAGCTGACGCTCGGAAGGTGTCTTGAGATTATCATCCGCTG AGGGTGGAAGCGGCCCCCGCAGACGCTCA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00597.hp2 HG01123.hp1 HG01255.hp2 others(19): Show HG00597.hp2 HG01123.hp1 HG01255.hp2 HG02074.hp2 HG02080.hp2 NA18947.hp1 NA18947.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18971.hp2 NA18977.hp1 NA18983.hp2 NA19011.hp1 NA19011.hp2 NA19063.hp1 NA19063.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA21309.hp1	a0005 a0009 a0044 others(5): Show a0005 a0009 a0044 a0083 a0086 a0087 a0089 a0090	a0005c0003 a0009c0009 a0044c0032 others(5): Show a0005c0003 a0009c0009 a0044c0032 a0083c0045 a0086c0096 a0087c0095 a0089c0099 a0090c0097	a0005c0003t0001 a0009c0009t0001 a0044c0032t0001 others(5): Show a0005c0003t0001 a0009c0009t0001 a0044c0032t0001 a0083c0045t0001 a0086c0096t0001 a0087c0095t0001 a0089c0099t0001 a0090c0097t0001	a0005c0003t0001g0116 a0005c0003t0001g0120 a0005c0003t0001g0131 others(19): Show a0005c0003t0001g0116 a0005c0003t0001g0120 a0005c0003t0001g0131 a0005c0003t0001g0132 a0005c0003t0001g0133 a0005c0003t0001g0134 a0005c0003t0001g0150 a0005c0003t0001g0151 a0005c0003t0001g0161 a0005c0003t0001g0170 a0005c0003t0001g0178 a0009c0009t0001g0121 a0009c0009t0001g0135 a0009c0009t0001g0179 a0009c0009t0001g0189 a0009c0009t0001g0198 a0044c0032t0001g0126 a0083c0045t0001g0152 a0086c0096t0001g0095 a0087c0095t0001g0093 a0089c0099t0001g0098 a0090c0097t0001g0096	22	204	0.1078	-378	c.136 others(9): Show c.1362_1739del	p.Glu others(13): Show p.Glu455_Ala580del	NPIPB4	ENSG00000185864.19	transcript	ENST00000682606.1	protein_coding	8/8	1954/4020	1362/3669	454/1222			chr16	TogoVar
PCMTD2_chr20_64250748_64281226	64270929	TACGTACA others(371): Show TACGTACAATGGTACAGTCCTTCTGAGGAAGGGCACGTGAGGTGTTCGTT GTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTT CGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGG TGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGT GAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGC ATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAA GGGCATGTGAGGTGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGA GGAAGGGCATGTGAGGTGTTCGTTGTGAG	T T	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA20905.hp2 HG02683.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	2	332	0.0060	-378	c.707 others(17): Show c.707-2257_707-1880del		PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
PCMTD2_chr20_64250748_64281226	64271091	TACGTACA others(371): Show TACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTTCGTT GTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGGTGTT CGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGTGAGG TGTTCGTTGTGATACGTACAATGGTACAGTCCTTCTGAGGAAGGGCATGT GAGGTGTTCGTTGTGAGACGTACAATGGTACAGTCCTTCTGAGGAAGGGC ATGTGAGGTGTTCGTTGTGAGACGTACAATGGTACAGTCCTTCTGAGGAA GGGCATGTGAGGTGTTCGTTGTGAGACGTACAATGGTACAGTCCTTCTGA GGAAGGGCATGTGAGGTGTTCGTTGTGAG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	332	0.0030	-378	c.707 others(17): Show c.707-2078_707-1701del		PCMTD2	ENSG00000203880.13	transcript	ENST00000308824.11	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
PCYT1A_chr3_196229368_196292726	196250889	CTGAGGCT others(371): Show CTGAGGCTGAGGACCAGATACACCATGCTGAGGCTGAGGACCAGATACAC TATGCTGAGGATCAGATACACTATGCTGAGGTTGAGGACCAGATACCCTA TGCTGAGGCTGAGGACCAGATACACCATGCTGAGGCTGAGGACCAGATAC ACCATGCTGAGGCTGAGGACCAGATACACCATGCTGAGGCTGAGGACCAG ATACACCATGCTGAGGCTGAGGATCAGATACACCATGCTGAGGCTGAGGA CCAGATACACCATGCTGAGGCTGAGGATCACATACACCATGCTGAGGCTG AGGACCAGATACACCATGCTGAGGCTGAGGACCAGATACACCATGCTGAG GCTGAGGACCAGATACACCATGCTGAGGT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0176 a0001c0001t0010g0176	1	310	0.0032	-378	c.218 others(17): Show c.218-2944_218-2567del		PCYT1A	ENSG00000161217.12	transcript	ENST00000431016.6	protein_coding	3/8						chr3	TogoVar
PPP2R3B_chrX_328933_391907	343029	TGAGACCT others(371): Show TGAGACCTCAGCAACGGGAGGCGGGAGTGAGACCTCGCCAAGGAGAGGCG GGAGTGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGA GGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAAC GGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGC CAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGGGAGACC TCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGAGGGA GACCTCGCCAACGGGAGGCGGGAGGGAGACCTCGCCAACGGGAGGCGGGA GGGAGACCTCGCCAACGGGAGGCGGGAGG	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0006 a0003c0013t0006	a0003c0013t0006g0025 a0003c0013t0006g0025	1	25	0.0400	-378	c.103 others(19): Show c.1037-1476_1037-1099del		PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	7/12						chrX	TogoVar
PPP3CA_chr4_101018418_101352526	101163658	GGGCTGGG others(371): Show GGGCTGGGTTATGGAAGCACAGCAGTAGGTGTTAGGATACATATTTTGCT CTGGCATATATGATAGGTACACCATGGTTTAAAGTTTCTGGTTGATTTAG GGGTAGAAATAAGTAAAGCCAATTTTACATTATTTTTAAGTCACTTAAGG GAATCAGAACAGAGTCCTACATTTGGTTTGGTCTAGCTCCTCAGGCACTA TACTGAGGTTTAGGGCCAAAGGCTTAGCCAGTAGCTATTTATCATGAATA AATAGATTTCTATCATGATCTCAGGTGGAAGTTGGTATAAGACACAGTTT TATTTTTATTTTATTTTTTATTTACTTATTATTTGTTTTTAGAGACGAGG TCTTGCTCTGTCACCCAGGCTGGAGTGCA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0035 a0001c0001t0009g0035	1	192	0.0052	-378	c.259 others(19): Show c.259+31880_259+32257del		PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	2/13						chr4	TogoVar
PRB3_chr12_11260914_11274707	11267466	TGGGGGAC others(371): Show TGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCT TTCCTGGACGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGT GGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCC TCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGACGAGGTGGGGGACCTT GGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGGCTTTCCCGGATGA GGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTCTGG CTTTCCCGGACGAGGCGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGG GTGGTCCTTCTGGCTTTCCCGGACGAGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0023 a0023	a0023c0019 a0023c0019	a0023c0019t0001 a0023c0019t0001	a0023c0019t0001g0025 a0023c0019t0001g0025	2	443	0.0045	-378	c.405 others(7): Show c.405_782del	p.Pro others(13): Show p.Pro136_Pro261del	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	820/1227	405/1056	135/351			chr12	TogoVar
PWWP4_chrX_153261152_153284145	153273193	GCCCTGCG others(371): Show GCCCTGCGAGGTTACAGGTCATGGACGCGCAGGGCCATTGCCCCTACTCC AGGCACTCTGAGCAGTTACAGGTCACGGTCCCGCAGGACCATTGCCTCTA CTCCAGCCACCCTGCGTGGTGAAAAGTCACGGGCGCACACCAGCCTTGCC CCCACCCCAGGTGCTTTGCGCGGTGACGGTTCACGAGCACGCAGGGCCAT TGTCCCTACTACATGCCCATTGTGCGAGATATGGTCACGGGTGGGCATAG GCATTGCCCCTATTGCAGATGCCCTGCGCCGTGACAGGTCACCAGTGCGC AGGGCCATTGCCCCTACTCCAGGCACTCTGAGCGGTTACAGGTCACGGGC ACGCACGGCCATTGCCCCTACTCCAGGCA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00609.hp1 HG02523.hp1 HG00609.hp1 HG02523.hp1	a0019 a0049 a0019 a0049	a0019c0018 a0049c0015 a0019c0018 a0049c0015	a0019c0018t0003 a0049c0015t0013 a0019c0018t0003 a0049c0015t0013	a0019c0018t0003g0025 a0049c0015t0013g0024 a0019c0018t0003g0025 a0049c0015t0013g0024	2	141	0.0142	-378	c.159 others(9): Show c.1594_1971del	p.Ser others(13): Show p.Ser532_Arg657del	PWWP4	ENSG00000278803.3	transcript	ENST00000458091.5	protein_coding	4/4	2137/8071	1594/6186	532/2061		INFO_REALIGN_3_PRIME	chrX	TogoVar
RAD21L1_chr20_1221044_1260876	1259461	ATTTGGGA others(371): Show ATTTGGGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCC TTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATAAACACATA AAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTA ATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCT TCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAAC TGGTTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTT CCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACACA TAAAGCTCTGTTTCCTTCTAGGTAACTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0085 a0002c0002t0007g0085	1	364	0.0028	-378	c.50 others(11): Show c.5005_*5382del		RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding					3586		chr20	TogoVar
RASA3_chr13_113972783_114137623	114083781	GTGAGTCT others(371): Show GTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCACGGGGA AGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCG GGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAAT CCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGG AAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGC GGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCC TCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTC CTCCTCGCGGGGAAATCCCGGGGAAGTGC	G G	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0030 a0001c0003t0003g0030	1	67	0.0149	-378	c.56- others(16): Show c.56-10322_56-9945del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114083824	ACGGGGAA others(371): Show ACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGA AATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCG GGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCT CGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCG TCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCC TTCCTCCTCGCGGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGAC TCCCTTCCTCCTCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTAT CGACTCCCTTCCTCCTCGCGGGGAAATCC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03225.hp2 HG02257.hp1 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0004 a0002c0004t0009 a0001c0001t0004 a0002c0004t0009	a0001c0001t0004g0066 a0002c0004t0009g0010 a0001c0001t0004g0066 a0002c0004t0009g0010	2	67	0.0299	-378	c.56- others(16): Show c.56-10365_56-9988del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar
RASA3_chr13_113972783_114137623	114083835	CTGAGTCT others(371): Show CTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAATCCCGGGGA AGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGCGGGGAAATCCCG GGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGGAAAT CCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCGTCCTCGCGGGG AAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCCTCGC GGGGAAATCACGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTCCTCC TCGCGGGGAAATCCCGGGGAAGTGCTGAGTCTGGAGTATCGACTCCCTTC CTCCTCGCGGGGAAATCCCGGGGAAGTGG	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0020 a0001c0003t0003g0020	1	67	0.0149	-378	c.56- others(16): Show c.56-10376_56-9999del		RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23						chr13	TogoVar

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Search Results (Total: 10000 hits)