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 annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
C1QTNF12_chr1_1237453_1251722	1249037	GCGAGGGA others(59): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp2 HG02280.hp2 HG02622.hp1 HG02004.hp2 HG02280.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0002 a0001c0001t0001g0013	3	328	0.0092	-66	c.-24 others(77): Show c.-2413_-2348delGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCG		C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding					2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249562	GGACCGAG others(59): Show GGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGG GCAGCCCTGGGAGGCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA19067.hp1 HG00597.hp1 NA19067.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0093 a0002c0002t0001g0099 a0002c0002t0001g0093 a0002c0002t0001g0099	2	328	0.0061	-66	c.-29 others(77): Show c.-2938_-2873delTAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTA GGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTC		C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding					2841		chr1	TogoVar
C2CD2_chr21_41880112_41959018	41931829	TACCCCAC others(59): Show TACCCCACCTCCAACATCCCACCACTCCACCTCCAACATCCCACCACCCC ACCTCCAGCATCCCACC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0004 a0001c0025t0004	a0001c0025t0004g0273 a0001c0025t0004g0273	1	396	0.0025	-66	c.379 others(83): Show c.379-9810_379-9745delGGTGGGATGCTGGAGGTGGGGTGGTGGG ATGTTGGAGGTGGAGTGGTGGGATGTTGGAGGTGGGGT		C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	2/13						chr21	TogoVar
C2CD2_chr21_41880112_41959018	41931918	ACCCCACC others(59): Show ACCCCACCTCCAGCATCCCACCACCCCACCTCCAGCATCCCACCACCCCA CCTCCAGCATCCCACCT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19088.hp1 HG00438.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0037 a0001c0003 a0001c0037	a0001c0003t0011 a0001c0037t0004 a0001c0003t0011 a0001c0037t0004	a0001c0003t0011g0108 a0001c0037t0004g0021 a0001c0003t0011g0108 a0001c0037t0004g0021	2	396	0.0051	-66	c.379 others(83): Show c.379-9899_379-9834delAGGTGGGATGCTGGAGGTGGGGTGGTGG GATGCTGGAGGTGGGGTGGTGGGATGCTGGAGGTGGGG		C2CD2	ENSG00000157617.17	transcript	ENST00000380486.4	protein_coding	2/13						chr21	TogoVar
C4orf47_chr4_185421254_185454826	185454579	TGGCACAT others(59): Show TGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATC ACTTGAACCTGGGAGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0311 a0001c0001t0002g0311	1	358	0.0028	-66	c.49 others(77): Show c.4936_*5001delGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGC TGAAGCAGGAGAATCACTTGAACCTGGGAGGC		C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding					4754		chr4	TogoVar
C6orf15_chr6_31106223_31117575	31111507	CCCCCAGC others(59): Show CCCCCAGCTGCCTCCTGGATACCGATTAATATTCCCCCAGCTGCCTCCTG GATACCGATTAATATTT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02717.hp2 HG02717.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0002 a0013c0017t0002	a0013c0017t0002g0019 a0013c0017t0002g0019	1	437	0.0023	-66	c.786 others(73): Show c.786_851delAAATATTAATCGGTATCCAGGAGGCAGCTGGGGGAATA TTAATCGGTATCCAGGAGGCAGCTGGGG	p.Asn others(13): Show p.Asn263_Gly284del	C6orf15	ENSG00000204542.3	transcript	ENST00000259870.4	protein_coding	2/2	871/1156	786/978	262/325			chr6	TogoVar
C7orf50_chr7_992006_1143247	1120775	ACCATGGA others(59): Show ACCATGGACTATTTTACTCAGCCCCAAAAATGGATGGACACGGGGCGTAG TGTGGCCGGCAGGCGGC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	326	0.0031	-66	c.129 others(83): Show c.129+6416_129+6481delGCCGCCTGCCGGCCACACTACGCCCCGT GTCCATCCATTTTTGGGGCTGAGTAAAATAGTCCATGG		C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4						chr7	TogoVar
C8A_chr1_56849797_56923223	56885354	TTATGTAA others(59): Show TTATGTAAATATATATTTATATTTATTTAAATATATATTTAAATAAATAT ATATTTATTTAAATATA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	366	0.0027	-66	c.856 others(81): Show c.856-569_856-504delGTAAATATATATTTATATTTATTTAAATAT ATATTTAAATAAATATATATTTATTTAAATATATAT		C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
C8orf82_chr8_144520733_144534111	144531235	AAGGGCAC others(59): Show AAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01978.hp1 HG02572.hp2 others(5): Show HG00423.hp1 HG01978.hp1 HG02572.hp2 HG03471.hp2 NA18998.hp1 NA19007.hp1 NA19011.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0002t0002 a0001c0003t0004 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0004 a0002c0004t0005	a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0002t0002g0001 others(3): Show a0001c0001t0002g0015 a0001c0001t0002g0043 a0001c0002t0002g0001 a0001c0002t0002g0006 a0001c0003t0004g0051 a0002c0004t0005g0012	8	398	0.0201	-66	c.-23 others(77): Show c.-2385_-2320delGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCCTGTGCCCT		C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding					2125		chr8	TogoVar
C8orf82_chr8_144520733_144534111	144531294	AAGGGCAC others(59): Show AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTAGGCTAGACATAGCAG GCACGGCAGAAGGGCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00733.hp2 HG02027.hp1 others(4): Show HG00673.hp2 HG00733.hp2 HG02027.hp1 HG02056.hp2 NA19012.hp2 NA19068.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0002t0002g0001 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0002t0002g0001 a0001c0002t0002g0005 a0001c0002t0002g0008 a0001c0002t0002g0019	7	398	0.0176	-66	c.-24 others(77): Show c.-2444_-2379delGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCTA CTCCCCACCTGCTGCTCCCTGCCCTGTGCCCT		C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding					2184		chr8	TogoVar
CACNA2D3_chr3_54117552_55079557	54736054	TATGTATG others(59): Show TATGTATGTATATATATATACATATATATGTATGTGTATATATATACATA TATATGTATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01169.hp1 HG01169.hp2 others(15): Show HG00639.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG03098.hp1 HG03471.hp2 HG03579.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA19043.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0001c0011 a0001c0026 a0001c0035 a0001c0036	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0010t0001 a0001c0011t0001 a0001c0026t0009 a0001c0035t0001 a0001c0036t0005	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0037 others(15): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0118 a0001c0002t0001g0060 a0001c0005t0001g0052 a0001c0005t0001g0111 a0001c0010t0001g0065 a0001c0011t0001g0099 a0001c0026t0009g0073 a0001c0035t0001g0049 a0001c0036t0005g0002	18	118	0.1525	-66	c.116 others(87): Show c.1168-16542_1168-16477delGTATGTATATATATATACATATAT ATGTATGTGTATATATATACATATATATGTATATATATACAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	11/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54763760	CATATATA others(59): Show CATATATATGTATATATGTACATATATATGTATATATATGTACATATATA TACATATATATATACGT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	118	0.0085	-66	c.124 others(83): Show c.1247-441_1247-376delGTACATATATATGTATATATATGTACAT ATATATACATATATATATACGTATATATATGTATATAT		CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37					INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18442934	ATATATAT others(59): Show ATATATATGTGTATATATATATATGTATATATATATGTGTATATATATAT ATGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19084.hp1 NA21309.hp2 NA18985.hp2 NA19084.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0055 a0001c0002t0005 a0001c0001t0055 a0001c0002t0005	a0001c0001t0055g0170 a0001c0002t0005g0038 a0001c0002t0005g0097 a0001c0001t0055g0170 a0001c0002t0005g0038 a0001c0002t0005g0097	3	200	0.0150	-66	c.333 others(85): Show c.333+40899_333+40964delGTGTATATATATATATGTATATATAT ATGTGTATATATATATATGTATATATATATGTGTATATAT		CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNB2_chr10_18335709_18548557	18442934	ATATATAT others(59): Show ATATATATGTGTATATATATATATGTATATATATATGTGTATATATATAT ATGTATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18967.hp2 NA18982.hp1 others(5): Show NA18953.hp2 NA18967.hp2 NA18982.hp1 NA18985.hp1 NA18999.hp1 NA19066.hp2 NA19084.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0026 a0001c0002t0002 a0001c0002t0004 a0001c0002t0040	a0001c0001t0026g0296 a0001c0002t0002g0183 a0001c0002t0004g0068 others(5): Show a0001c0001t0026g0296 a0001c0002t0002g0183 a0001c0002t0004g0068 a0001c0002t0004g0098 a0001c0002t0004g0099 a0001c0002t0004g0137 a0001c0002t0004g0191 a0001c0002t0040g0097	8	302	0.0265	-66	c.171 others(85): Show c.171+40899_171+40964delGTGTATATATATATATGTATATATAT ATGTGTATATATATATATGTATATATATATGTGTATATAT		CACNB2	ENSG00000165995.24	transcript	ENST00000377329.10	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr10	TogoVar
CACNG3_chr16_24251335_24367412	24317582	GAAAGAAA others(59): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGACAGA CAGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	366	0.0027	-66	c.212 others(85): Show c.212-29106_212-29041delCAGACAGAAAGAAAGAAAAGAAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA		CACNG3	ENSG00000006116.4	transcript	ENST00000005284.4	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
CADM2_chr3_84953989_86079429	86051187	ACCTTACA others(59): Show ACCTTACATCAACACTCTCAAGTTCAAAGTTCCATGGATCCCTAGGGCAG GACTCAATGCAGCCAGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0124 a0001c0001t0031g0124	1	146	0.0069	-66	c.971 others(85): Show c.971-14417_971-14352delCCTTACATCAACACTCTCAAGTTCAA AGTTCCATGGATCCCTAGGGCAGGACTCAATGCAGCCAGT		CADM2	ENSG00000175161.14	transcript	ENST00000383699.8	protein_coding	8/9						chr3	TogoVar
CAMK1D_chr10_12344547_12840545	12691367	ATATATAT others(59): Show ATATATATATAAATATATATATATATATATATATATAAATATATATATAT ATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0014 a0001c0001t0039g0014	1	214	0.0047	-66	c.299 others(85): Show c.299+24559_299+24624delATATATATAAATATATATATATATAT ATATATATAAATATATATATATATATATTTTTTTTTTTTT		CAMK1D	ENSG00000183049.14	transcript	ENST00000619168.5	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
CAMKMT_chr2_44356947_44777592	44409117	ATATATAT others(59): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02258.hp2 HG02602.hp1 others(1): Show HG01109.hp1 HG02258.hp2 HG02602.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0172 a0001c0001t0001g0174 others(1): Show a0001c0001t0001g0120 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0178	4	198	0.0202	-66	c.376 others(85): Show c.376+18818_376+18883delATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATGTATAT		CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN15_chr16_522712_559636	550075	CGATGCCG others(59): Show CGATGCCGTCACCCCGGAGCAGGTGTGAGCGGCGTGTCGAGTTTGACCTG GGCCGTGGGGCGAGACT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02055.hp2 others(30): Show HG01069.hp2 HG01071.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02818.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp2 NA20300.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0009 a0023 a0025	a0001c0001 a0001c0002 a0001c0004 others(11): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0046 a0001c0072 a0003c0012 a0004c0018 a0004c0019 a0004c0025 a0004c0077 a0009c0024 a0023c0068 a0025c0076	a0001c0001t0001 a0001c0002t0001 a0001c0002t0010 others(16): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0010 a0001c0004t0001 a0001c0006t0003 a0001c0046t0037 a0001c0072t0004 a0003c0012t0002 a0004c0018t0001 a0004c0018t0014 a0004c0019t0001 a0004c0019t0003 a0004c0019t0007 a0004c0025t0003 a0004c0077t0030 a0009c0024t0001 a0009c0024t0002 a0023c0068t0001 a0025c0076t0003	a0001c0001t0001g0010 a0001c0001t0001g0165 a0001c0001t0001g0166 others(27): Show a0001c0001t0001g0010 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0362 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0394 a0001c0002t0001g0387 a0001c0002t0010g0391 a0001c0004t0001g0269 a0001c0006t0003g0006 a0001c0006t0003g0270 a0001c0006t0003g0277 a0001c0046t0037g0268 a0001c0072t0004g0395 a0003c0012t0002g0267 a0004c0018t0001g0274 a0004c0018t0014g0007 a0004c0019t0001g0285 a0004c0019t0003g0275 a0004c0019t0007g0286 a0004c0025t0003g0278 a0004c0025t0003g0284 a0004c0077t0030g0287 a0009c0024t0001g0386 a0009c0024t0002g0359 a0023c0068t0001g0364 a0025c0076t0003g0288	33	410	0.0805	-66	c.206 others(83): Show c.2066+248_2066+313delCCCCGGAGCAGGTGTGAGCGGCGTGTCG AGTTTGACCTGGGCCGTGGGGCGAGACTGATGCCGTCA		CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CARD14_chr17_80165030_80214331	80184833	GGATAGTT others(59): Show GGATAGTTGGTCTCTGTCGTCCTCCTTTGTCCTTCTCAGCTGGTCCTGGA CTCAGGCGGGGAGGGCA	G G	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0005 a0003c0010t0005	a0003c0010t0005g0055 a0003c0010t0005g0055	1	376	0.0027	-66	c.675 others(81): Show c.675+597_675+662delATAGTTGGTCTCTGTCGTCCTCCTTTGTCC TTCTCAGCTGGTCCTGGACTCAGGCGGGGAGGGCAG		CARD14	ENSG00000141527.19	transcript	ENST00000648509.2	protein_coding	7/23					INFO_REALIGN_3_PRIME	chr17	TogoVar
CASP3_chr4_184622696_184654447	184652476	TATGAGTT others(59): Show TATGAGTTACTTCTGCTCAAGCATAGAAAGGCAAAGTGACTGAAGTGGGA GAAAAAAGGAAAATCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	366	0.0027	-66	c.-33 others(77): Show c.-3330_-3265delTGGATTTTCCTTTTTTCTCCCACTTCAGTCACTT TGCCTTTCTATGCTTGAGCAGAAGTAACTCAT		CASP3	ENSG00000164305.20	transcript	ENST00000308394.9	protein_coding					3030		chr4	TogoVar
CATSPERB_chr14_91575698_91737086	91668271	CGCTCTGT others(59): Show CGCTCTGTGTCTAGCTAAAGGTTTGTAAACGCACCAATCAGAACTCTGTG AAAACACACCAATCAGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01243.hp2 others(2): Show HG00642.hp2 HG00735.hp2 HG01243.hp2 HG01515.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0002 a0001c0001t0001 a0001c0005t0002	a0001c0001t0001g0058 a0001c0001t0001g0157 a0001c0001t0001g0158 others(2): Show a0001c0001t0001g0058 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0005t0002g0211 a0001c0005t0002g0213	5	271	0.0185	-66	c.128 others(85): Show c.1287+1477_1287+1542delACTGATTGGTGTGTTTTCACAGAGTT CTGATTGGTGCGTTTACAAACCTTTAGCTAGACACAGAGC		CATSPERB	ENSG00000133962.8	transcript	ENST00000256343.8	protein_coding	14/26						chr14	TogoVar
CBFA2T3_chr16_88869858_88982207	88932173	TGCTTCCC others(59): Show TGCTTCCCCCTCACACGGCCCCCGCTTCCCCCTCACACGGCCCCCGCTTC CCCCTCACATGGCCCCC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	284	0.0035	-66	c.152 others(85): Show c.152-30583_152-30518delGGGGGCCATGTGAGGGGGAAGCGGGG GCCGTGTGAGGGGGAAGCGGGGGCCGTGTGAGGGGGAAGC		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CBFA2T3_chr16_88869858_88982207	88950234	GAGTGTTG others(59): Show GAGTGTTGGCACCTGTCTTCCAGGTCTGTTCACCCGTCCCCTGGACCGGC ACCGCCACAGAGGGTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00642.hp2 others(36): Show HG00099.hp2 HG00140.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01255.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG02451.hp2 HG02602.hp1 HG02602.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG03017.hp1 HG03195.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18952.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19057.hp2 NA19079.hp2 NA19085.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0005 a0002c0004 others(1): Show a0001c0001 a0001c0005 a0002c0004 a0009c0019	a0001c0001t0001 a0001c0001t0009 a0001c0001t0031 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0031 a0001c0005t0028 a0002c0004t0001 a0009c0019t0001	a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0038 others(36): Show a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0195 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0257 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0009g0135 a0001c0001t0031g0232 a0001c0005t0028g0249 a0002c0004t0001g0138 a0002c0004t0001g0149 a0009c0019t0001g0207	39	284	0.1373	-66	c.151 others(85): Show c.151+26357_151+26422delTGACCCTCTGTGGCGGTGCCGGTCCA GGGGACGGGTGAACAGACCTGGAAGACAGGTGCCAACACT		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CCBE1_chr18_59425939_59702423	59658342	AAAAAAAA others(59): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATA TATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0175 a0001c0001t0004g0175	1	242	0.0041	-66	c.212 others(85): Show c.212+38221_212+38286delATATATATATATATATATATATATAT ATATATATATATATATATATATATATATTTTTTTTTTTTT		CCBE1	ENSG00000183287.15	transcript	ENST00000439986.9	protein_coding	2/10						chr18	TogoVar
CCDC102B_chr18_68793080_69060189	68857105	TTATATAT others(59): Show TTATATATAAATATATTTATATATTTTTATATATTATATATAAATATATT TATATATTTTTATATAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00544.hp2 others(57): Show HG00140.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00621.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01175.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG02071.hp1 HG02083.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02293.hp2 HG02738.hp2 HG03195.hp2 HG03471.hp2 HG03492.hp1 HG03579.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18941.hp2 NA18944.hp2 NA18949.hp1 NA18956.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp2 NA18977.hp2 NA18988.hp1 NA18992.hp1 NA18995.hp1 NA19001.hp1 NA19001.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19054.hp2 NA19057.hp2 NA19083.hp1 NA19083.hp2 NA19086.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0009 a0014 a0028	a0001c0001 a0002c0002 a0002c0005 others(6): Show a0001c0001 a0002c0002 a0002c0005 a0002c0009 a0002c0031 a0007c0012 a0009c0034 a0014c0019 a0028c0022	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(9): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0005t0001 a0002c0005t0005 a0002c0009t0001 a0002c0031t0001 a0007c0012t0001 a0009c0034t0002 a0014c0019t0001 a0028c0022t0001	a0001c0001t0001g0195 a0002c0002t0001g0007 a0002c0002t0001g0010 others(57): Show a0001c0001t0001g0195 a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0018 a0002c0002t0001g0029 a0002c0002t0001g0039 a0002c0002t0001g0043 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0063 a0002c0002t0001g0067 a0002c0002t0001g0073 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0098 a0002c0002t0001g0127 a0002c0002t0001g0132 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0179 a0002c0002t0001g0184 a0002c0002t0001g0193 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0003g0059 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0097 a0002c0002t0004g0149 a0002c0005t0001g0028 a0002c0005t0001g0040 a0002c0005t0001g0041 a0002c0005t0001g0042 a0002c0005t0001g0069 a0002c0005t0001g0071 a0002c0005t0001g0131 a0002c0005t0001g0191 a0002c0005t0001g0198 a0002c0005t0001g0211 a0002c0005t0005g0035 a0002c0005t0005g0037 a0002c0009t0001g0102 a0002c0009t0001g0107 a0002c0009t0001g0111 a0002c0009t0001g0118 a0002c0009t0001g0152 a0002c0031t0001g0119 a0007c0012t0001g0034 a0007c0012t0001g0070 a0007c0012t0001g0197 a0007c0012t0001g0210 a0009c0034t0002g0173 a0014c0019t0001g0121 a0028c0022t0001g0178	60	216	0.2778	-66	c.936 others(85): Show c.936+10691_936+10756delTAAATATATTTATATATTTTTATATA TTATATATAAATATATTTATATATTTTTATATAATATATA		CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC102B_chr18_68793080_69060189	68857112	TAAATATA others(59): Show TAAATATATTTATATATTTTTATATATTATATATAAATATATTTATATAT TTTTATATAATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0214 a0001c0007t0001g0214	1	216	0.0046	-66	c.936 others(85): Show c.936+10717_936+10782delTTATATATAAATATATTTATATATTT TTATATAATATATAAAAATATATTTATATATTTTTATATA		CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC102B_chr18_68793080_69060189	68857145	TAAATATA others(59): Show TAAATATATTTATATATTTTTATATAATATATAAAAATATATTTATATAT TTTTATATAATATATAA	T T	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0005 a0001c0007t0001g0005	1	216	0.0046	-66	c.936 others(85): Show c.936+10750_936+10815delATATATAAAAATATATTTATATATTT TTATATAATATATAAAAATATATTTATATATTTTTATATA		CCDC102B	ENSG00000150636.17	transcript	ENST00000360242.9	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
CCDC110_chr4_185440182_185476733	185454579	TGGCACAT others(59): Show TGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATC ACTTGAACCTGGGAGGC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0003 a0007c0011t0003	a0007c0011t0003g0285 a0007c0011t0003g0285	1	428	0.0023	-66	c.246 others(85): Show c.2461+3481_2461+3546delGCCTCCCAGGTTCAAGTGATTCTCCT GCTTCAGCCTCCTGAGTAGCTGGGACTACAGGCATGTGCC		CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	6/6						chr4	TogoVar
CCDC171_chr9_15548043_15979037	15603675	CATCTCTT others(59): Show CATCTCTTTGCTATTGTGAATAGTGCTGCAATGAGCATACATGTGCATGT GTCTTTATAGTAGAATG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02155.hp1 NA18945.hp2 others(2): Show HG00558.hp2 HG02155.hp1 NA18945.hp2 NA19003.hp1 NA19090.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0027 a0004c0004t0003g0038 a0004c0004t0003g0045 others(2): Show a0004c0004t0003g0027 a0004c0004t0003g0038 a0004c0004t0003g0045 a0004c0004t0003g0051 a0004c0004t0003g0052	5	266	0.0188	-66	c.675 others(83): Show c.675+9506_675+9571delCTCTTTGCTATTGTGAATAGTGCTGCAA TGAGCATACATGTGCATGTGTCTTTATAGTAGAATGAT		CCDC171	ENSG00000164989.17	transcript	ENST00000380701.8	protein_coding	6/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC73_chr11_32597721_32799662	32786351	ATTATATA others(59): Show ATTATATAATTATAATATATAATAAATATATTATTTATATAATTATAATA TATAATAAATATATTAT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03139.hp1 HG03195.hp1 others(3): Show HG02970.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0252 a0001c0001t0001g0253 others(3): Show a0001c0001t0001g0174 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256	6	312	0.0192	-66	c.-16 others(83): Show c.-16+8196_-16+8261delATAATATATTTATTATATATTATAATTA TATAAATAATATATTTATTATATATTATAATTATATAA		CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	1/17						chr11	TogoVar
CDADC1_chr13_49242925_49298485	49269240	AACTTTTA others(59): Show AACTTTTATAAAAAGTACAGATGCTATACTTTTTACTTTTATAAAAAGTA CAGATGCTATACTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00438.hp1 others(129): Show HG00099.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18988.hp1 NA18991.hp1 NA18997.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19075.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19091.hp1 NA19240.hp1 NA20905.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0003t0004	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(125): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0053 a0001c0001t0008g0100 a0001c0003t0004g0019	132	368	0.3587	-66	c.100 others(85): Show c.1000+1233_1000+1298delGATGCTATACTTTTTACTTTTATAAA AAGTACAGATGCTATACTTTTTACTTTTATAAAAAGTACA		CDADC1	ENSG00000102543.14	transcript	ENST00000251108.10	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr13	TogoVar
CDC5L_chr6_44382706_44455425	44390955	ATTAAACA others(59): Show ATTAAACATATTTAATATGTTATATATTATATATTAAACATATTTAATAT GTTATATATTATATATT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02818.hp1 HG03831.hp2 HG02735.hp1 HG02818.hp1 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0095 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0095	3	352	0.0085	-66	c.149 others(81): Show c.149+585_149+650delTTAAACATATTTAATATGTTATATATTATA TATTAAACATATTTAATATGTTATATATTATATATT		CDC5L	ENSG00000096401.8	transcript	ENST00000371477.4	protein_coding	2/15						chr6	TogoVar
CDH15_chr16_89166748_89200492	89186665	ACGCTCAC others(59): Show ACGCTCACCCAGCGCACAGTAGGTGCTCTGTGAACACCCAGCGCACAGTA GGTGCTCTGTAAAAGCT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA19084.hp1 NA18969.hp2 NA19084.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0116 a0002c0004t0004g0117 a0002c0004t0004g0116 a0002c0004t0004g0117	2	406	0.0049	-66	c.664 others(81): Show c.664-762_664-697delGCTCACCCAGCGCACAGTAGGTGCTCTGTG AACACCCAGCGCACAGTAGGTGCTCTGTAAAAGCTC		CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr16	TogoVar
CDH26_chr20_59953423_60019529	59953939	TATATATA others(59): Show TATATATATATATATATATATATATATATATATATATATATATAGAGAGA GAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0004 a0004c0009t0004	a0004c0009t0004g0040 a0004c0009t0004g0040	1	288	0.0035	-66	c.-47 others(77): Show c.-4787_-4722delATATATATATATATATATATATATATATATATAT ATATATATAGAGAGAGAGAGAGAGAGAGAGAG		CDH26	ENSG00000124215.17	transcript	ENST00000348616.9	protein_coding					4483		chr20	TogoVar
CDH2_chr18_27945966_28182130	28156444	CATGTCAC others(59): Show CATGTCACCTTCCCAGGTACAGCATGTCACCTTCCCAGGTACAGAATGTC ACCTTCCCAGGTATAGA	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19057.hp2 NA19011.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0228 a0001c0002t0002g0231 a0001c0002t0002g0228 a0001c0002t0002g0231	2	268	0.0075	-66	c.61- others(81): Show c.61-8726_61-8661delTCTATACCTGGGAAGGTGACATTCTGTACC TGGGAAGGTGACATGCTGTACCTGGGAAGGTGACAT		CDH2	ENSG00000170558.10	transcript	ENST00000269141.8	protein_coding	1/15						chr18	TogoVar
CDH4_chr20_61247261_61945617	61265289	TTCCTTCA others(59): Show TTCCTTCATTCAATCTTACACATACCCCAGTGGCTCCTTCATTCAGTCCT ACACATATCTCAGTGGC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03453.hp1 HG02723.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0018 a0001c0013t0006 a0001c0001t0018 a0001c0013t0006	a0001c0001t0018g0039 a0001c0013t0006g0036 a0001c0001t0018g0039 a0001c0013t0006g0036	2	106	0.0189	-66	c.169 others(85): Show c.169+10376_169+10441delCCCCAGTGGCTCCTTCATTCAGTCCT ACACATATCTCAGTGGCTCCTTCATTCAATCTTACACATA		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDH4_chr20_61247261_61945617	61275546	CTGCGCAG others(59): Show CTGCGCAGTTTGGGGGAGTACCCTGCGCAGTTTGGGGGAGTACCATGCGC AGTTTGGGAGAGTACCA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18906.hp1 HG02559.hp1 NA18906.hp1	a0001 a0001	a0001c0010 a0001c0012 a0001c0010 a0001c0012	a0001c0010t0009 a0001c0012t0001 a0001c0010t0009 a0001c0012t0001	a0001c0010t0009g0045 a0001c0012t0001g0008 a0001c0010t0009g0045 a0001c0012t0001g0008	2	106	0.0189	-66	c.169 others(85): Show c.169+20631_169+20696delCTGCGCAGTTTGGGGGAGTACCATGC GCAGTTTGGGAGAGTACCATGCGCAGTTTGGGGGAGTACC		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr20	TogoVar
CDSN_chr6_31110087_31125446	31111507	CCCCCAGC others(59): Show CCCCCAGCTGCCTCCTGGATACCGATTAATATTCCCCCAGCTGCCTCCTG GATACCGATTAATATTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	446	0.0022	-66	c.44 others(77): Show c.4452_*4517delAAATATTAATCGGTATCCAGGAGGCAGCTGGGGG AATATTAATCGGTATCCAGGAGGCAGCTGGGG		CDSN	ENSG00000204539.4	transcript	ENST00000376288.3	protein_coding					3579		chr6	TogoVar
CDYL2_chr16_80592907_80809598	80729936	GGACGCAT others(59): Show GGACGCATTCAAAGCAGTGGGTAGAGGGAAATTTATAGCACTAAATGCCC ACAAGAGAAAGCAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0116 a0001c0003t0002g0116	1	258	0.0039	-66	c.25- others(83): Show c.25-44873_25-44808delTTCCTGCTTTCTCTTGTGGGCATTTAGT GCTATAAATTTCCCTCTACCCACTGCTTTGAATGCGTC		CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6						chr16	TogoVar
CDYL2_chr16_80592907_80809598	80778323	ATATATAA others(59): Show ATATATAAAATTATAACTGACAGAAAGACAGGTAAGATGATATAATTTAA GCATGATGTGACTATCT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0069 a0001c0005t0069	a0001c0005t0069g0252 a0001c0005t0069g0252	1	258	0.0039	-66	c.24+ others(83): Show c.24+25761_24+25826delAGATAGTCACATCATGCTTAAATTATAT CATCTTACCTGTCTTTCTGTCAGTTATAATTTTATATA		CDYL2	ENSG00000166446.15	transcript	ENST00000570137.7	protein_coding	1/6						chr16	TogoVar
CELSR1_chr22_46356174_46542620	46468057	AAGTGACC others(59): Show AAGTGACCTGCGTCCACCGACAGATTAACGGATTAAAACAATGTGGTCTG GCCAGGTGTGGTGGCTT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0014 a0014	a0014c0055 a0014c0055	a0014c0055t0001 a0014c0055t0001	a0014c0055t0001g0091 a0014c0055t0001g0091	1	104	0.0096	-66	c.354 others(85): Show c.3545-3778_3545-3713delAAGCCACCACACCTGGCCAGACCACA TTGTTTTAATCCGTTAATCTGTCGGTGGACGCAGGTCACT		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34						chr22	TogoVar
CEL_chr9_133056981_133076861	133071240	GCCCCCGT others(59): Show GCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCAC GGGTGACTCCGGGGCCC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00140.hp1 HG00323.hp1 HG00741.hp1 others(35): Show HG00140.hp1 HG00323.hp1 HG00741.hp1 HG01074.hp2 HG01123.hp2 HG01168.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG02040.hp1 HG02080.hp2 HG02148.hp1 HG02257.hp1 HG02273.hp1 HG02559.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG03579.hp2 NA18948.hp1 NA18966.hp1 NA18970.hp2 NA18992.hp1 NA18995.hp1 NA19063.hp1 NA19088.hp2 NA19240.hp1	a0004 a0009 a0022 others(3): Show a0004 a0009 a0022 a0041 a0058 a0069	a0004c0006 a0004c0030 a0004c0036 others(8): Show a0004c0006 a0004c0030 a0004c0036 a0004c0232 a0009c0003 a0009c0189 a0022c0150 a0022c0187 a0041c0188 a0058c0051 a0069c0242	a0004c0006t0001 a0004c0030t0001 a0004c0036t0001 others(8): Show a0004c0006t0001 a0004c0030t0001 a0004c0036t0001 a0004c0232t0001 a0009c0003t0001 a0009c0189t0001 a0022c0150t0001 a0022c0187t0001 a0041c0188t0001 a0058c0051t0001 a0069c0242t0001	a0004c0006t0001g0001 a0004c0006t0001g0003 a0004c0006t0001g0006 others(18): Show a0004c0006t0001g0001 a0004c0006t0001g0003 a0004c0006t0001g0006 a0004c0006t0001g0009 a0004c0030t0001g0077 a0004c0030t0001g0094 a0004c0036t0001g0013 a0004c0232t0001g0033 a0009c0003t0001g0001 a0009c0003t0001g0003 a0009c0003t0001g0006 a0009c0003t0001g0007 a0009c0003t0001g0028 a0009c0003t0001g0044 a0009c0003t0001g0069 a0009c0189t0001g0013 a0022c0150t0001g0009 a0022c0187t0001g0013 a0041c0188t0001g0054 a0058c0051t0001g0001 a0069c0242t0001g0003	38	416	0.0914	-66	c.193 others(75): Show c.1932_1997delGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGC CCCCCCCGTGCCGCCCACGGGTGACTCCGG	p.Ala others(13): Show p.Ala645_Gly666del	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1954/2381	1932/2262	644/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
CEMIP2_chr9_71678366_71773513	71728253	ATATACAC others(59): Show ATATACACGTATATATATATATATATATGTATATATATATATATATATAC ATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03490.hp1 NA18953.hp1 others(2): Show HG01175.hp2 HG03490.hp1 NA18953.hp1 NA18971.hp1 NA19079.hp2	a0005 a0008 a0005 a0008	a0005c0004 a0008c0011 a0005c0004 a0008c0011	a0005c0004t0007 a0005c0004t0011 a0008c0011t0015 others(1): Show a0005c0004t0007 a0005c0004t0011 a0008c0011t0015 a0008c0011t0030	a0005c0004t0007g0131 a0005c0004t0011g0006 a0005c0004t0011g0008 others(2): Show a0005c0004t0007g0131 a0005c0004t0011g0006 a0005c0004t0011g0008 a0008c0011t0015g0023 a0008c0011t0030g0021	5	320	0.0156	-66	c.204 others(85): Show c.2049+1526_2049+1591delCGTATATATATATATATGTATATATA TATATATATATACATATATATATATATATATACGTGTATA		CEMIP2	ENSG00000135048.14	transcript	ENST00000377044.9	protein_coding	10/23						chr9	TogoVar
CENPVL3_chrX_51612020_51623912	51621641	CTTCTTCT others(59): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TTCTTCTTCTTCTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0000 a0002c0002t0003g0000	1	298	0.0034	-66	c.-28 others(77): Show c.-2834_-2769delAAAAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA		CENPVL3	ENSG00000224109.4	transcript	ENST00000417339.4	protein_coding					2730		chrX	TogoVar
CEP19_chr3_196701277_196717250	196703418	CCAGCCCC others(59): Show CCAGCCCCAGGCAGCCATAATCAATTCCCATCCCCAGCCCCAGGCAGCCA TAATCAATTCCCATCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02615.hp1 NA20129.hp2 HG02109.hp2 HG02615.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0006g0039 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0006g0039	3	432	0.0069	-66	c.40 others(77): Show c.4067_*4132delCGGATGGGAATTGATTATGGCTGCCTGGGGCTGG GGATGGGAATTGATTATGGCTGCCTGGGGCTG		CEP19	ENSG00000174007.9	transcript	ENST00000409690.5	protein_coding					2858		chr3	TogoVar
CEP72_chr5_607340_658553	651179	TTACTGTG others(59): Show TTACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGA GGTGTGACTGAGGCGTG	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0019 a0003c0005t0002g0019	1	91	0.0110	-66	c.177 others(85): Show c.1779-1808_1779-1743delTACTGTGAGGCGTGGACTGTGAGGTG TGACTGTGAGGCGTGGACTGTGAGGTGTGACTGAGGCGTG		CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11						chr5	TogoVar
CFAP299_chr4_80330730_80968750	80902422	GTTTATAT others(59): Show GTTTATATATGTAAGTATATATGGATATACATATATACATATATGTATAT ATGTATATATGTATATA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00642.hp1 HG00738.hp1 others(24): Show HG00423.hp1 HG00642.hp1 HG00738.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02647.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 NA18906.hp1 NA18963.hp1 NA18984.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0002c0006 a0002c0007	a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0003t0002 a0001c0004t0001 a0002c0002t0001 a0002c0005t0001 a0002c0006t0001 a0002c0007t0001	a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0001t0001g0049 others(24): Show a0001c0001t0001g0009 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0004t0001g0022 a0001c0004t0001g0050 a0002c0002t0001g0001 a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0020 a0002c0002t0001g0026 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0067 a0002c0002t0001g0075 a0002c0005t0001g0058 a0002c0005t0001g0070 a0002c0005t0001g0071 a0002c0005t0001g0076 a0002c0006t0001g0034 a0002c0006t0001g0082 a0002c0006t0001g0088 a0002c0007t0001g0047	27	96	0.2813	-66	c.476 others(85): Show c.476+32289_476+32354delTTATATATGTAAGTATATATGGATAT ACATATATACATATATGTATATATGTATATATGTATATAT		CFAP299	ENSG00000197826.13	transcript	ENST00000358105.8	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr4	TogoVar
CFAP44_chr3_113281930_113446493	113346534	GTGCACCA others(59): Show GTGCACCAATCAGCACTCTGTAAAAACGCACCAATCAGCACTCTGGGTCT AGCTACAGGATTGTAAA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0085 a0002c0002t0002g0085	1	348	0.0029	-66	c.306 others(85): Show c.3066-1888_3066-1823delTTTACAATCCTGTAGCTAGACCCAGA GTGCTGATTGGTGCGTTTTTACAGAGTGCTGATTGGTGCA		CFAP44	ENSG00000206530.11	transcript	ENST00000393845.9	protein_coding	22/34						chr3	TogoVar
CFAP46_chr10_132803392_132947570	132914061	GCCCGAGG others(59): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA18960.hp2 NA19056.hp2 HG02572.hp1 NA18960.hp2 NA19056.hp2	a0002 a0011 a0059 a0002 a0011 a0059	a0002c0003 a0011c0010 a0059c0082 a0002c0003 a0011c0010 a0059c0082	a0002c0003t0001 a0011c0010t0001 a0059c0082t0002 a0002c0003t0001 a0011c0010t0001 a0059c0082t0002	a0002c0003t0001g0145 a0011c0010t0001g0202 a0059c0082t0002g0100 a0002c0003t0001g0145 a0011c0010t0001g0202 a0059c0082t0002g0100	3	246	0.0122	-66	c.212 others(83): Show c.2121-869_2121-804delGCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57						chr10	TogoVar

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