Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cds cds pos length	aa aa pos length	distance	status	chr	external
BBLN_chr9_128155265_128168924	128159754	TCCCCCCC others(1): Show TCCCCCCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(162): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02300.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp1 HG02970.hp1 HG03017.hp1 HG03130.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19083.hp1 NA19087.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038	165	396	0.4167	-8	c.-65 others(17): Show c.-653_-646delCCCCCCCC		BBLN	ENSG00000171159.5	transcript	ENST00000372994.2	protein_coding				510		chr9	TogoVar
BBOF1_chr14_74014349_74071092	74028467	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02818.hp2 HG06807.hp1 others(1): Show HG01123.hp2 HG02818.hp2 HG06807.hp1 NA18952.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0002c0016 a0006c0005 a0002c0002 a0002c0016 a0006c0005	a0002c0002t0001 a0002c0016t0001 a0006c0005t0003 a0002c0002t0001 a0002c0016t0001 a0006c0005t0003	a0002c0002t0001g0197 a0002c0002t0001g0285 a0002c0016t0001g0218 others(1): Show a0002c0002t0001g0197 a0002c0002t0001g0285 a0002c0016t0001g0218 a0006c0005t0003g0375	4	386	0.0104	-8	c.286 others(23): Show c.286-679_286-672delCACACACA		BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	2/11				INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74037274	CTTTTTTT others(1): Show CTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02451.hp2 others(8): Show HG02055.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG03209.hp2 NA20129.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0003 a0006c0005t0005 a0006c0005t0008 others(1): Show a0006c0005t0003 a0006c0005t0005 a0006c0005t0008 a0006c0005t0016	a0006c0005t0003g0374 a0006c0005t0003g0375 a0006c0005t0005g0369 others(8): Show a0006c0005t0003g0374 a0006c0005t0003g0375 a0006c0005t0005g0369 a0006c0005t0005g0370 a0006c0005t0005g0371 a0006c0005t0005g0372 a0006c0005t0005g0373 a0006c0005t0008g0378 a0006c0005t0008g0379 a0006c0005t0008g0380 a0006c0005t0016g0381	11	386	0.0285	-8	c.495 others(25): Show c.495+3123_495+3130delTTTTTTTT		BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	4/11				INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74042871	CACACACA others(1): Show CACACACAG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp1 HG02723.hp2 others(2): Show HG02055.hp2 HG02257.hp1 HG02723.hp2 HG02886.hp1 NA20129.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0369 a0006c0005t0005g0370 a0006c0005t0005g0371 others(2): Show a0006c0005t0005g0369 a0006c0005t0005g0370 a0006c0005t0005g0371 a0006c0005t0005g0372 a0006c0005t0005g0373	5	386	0.0130	-8	c.576 others(25): Show c.576+2234_576+2241delGACACACA		BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	5/11				INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOF1_chr14_74014349_74071092	74042879	GACACACA others(1): Show GACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG06807.hp2 NA19043.hp2 HG02145.hp2 HG06807.hp2 NA19043.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0361 a0004c0007t0003g0364 a0004c0007t0003g0365 a0004c0007t0003g0361 a0004c0007t0003g0364 a0004c0007t0003g0365	3	386	0.0078	-8	c.576 others(25): Show c.576+2259_576+2266delACACACAC		BBOF1	ENSG00000119636.16	transcript	ENST00000394009.5	protein_coding	5/11				INFO_REALIGN_3_PRIME	chr14	TogoVar
BBOX1_chr11_27035815_27132809	27041184	CTTTTTTT others(1): Show CTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(41): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01255.hp1 HG01261.hp2 HG01515.hp2 HG01516.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02559.hp2 HG02615.hp1 HG02717.hp2 HG02886.hp1 HG02895.hp1 HG03225.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03834.hp2 HG06807.hp2 NA18522.hp2 NA18941.hp1 NA18960.hp2 NA18980.hp1 NA19001.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0003t0005 a0001c0009t0005	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 others(35): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0002g0026 a0001c0001t0007g0033 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0005g0028 a0001c0002t0007g0027 a0001c0003t0001g0002 a0001c0003t0001g0007 a0001c0003t0001g0023 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0046 a0001c0003t0001g0048 a0001c0003t0005g0004 a0001c0003t0005g0006 a0001c0003t0005g0036 a0001c0003t0005g0037 a0001c0003t0005g0040 a0001c0003t0005g0047 a0001c0009t0005g0051	44	318	0.1384	-8	c.-30 others(23): Show c.-301-21_-301-14delTTTTTTTT		BBOX1	ENSG00000129151.9	transcript	ENST00000263182.8	protein_coding	1/8				INFO_REALIGN_3_PRIME	chr11	TogoVar
BBS12_chr4_122727704_122749939	122733376	AACACACA others(1): Show AACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01175.hp2 HG01255.hp1 others(25): Show HG00558.hp2 HG01175.hp2 HG01255.hp1 HG01952.hp1 HG02004.hp1 HG02129.hp2 HG02257.hp2 HG02300.hp1 HG02559.hp1 HG03209.hp2 HG03831.hp1 HG04115.hp2 HG06807.hp2 NA18952.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18983.hp2 NA19002.hp2 NA19003.hp1 NA19007.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp2 NA19075.hp1 NA19075.hp2 NA19088.hp1	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0001 a0007c0008 a0009c0011 a0001c0001 a0007c0008 a0009c0011	a0001c0001t0001 a0007c0008t0001 a0009c0011t0006 a0001c0001t0001 a0007c0008t0001 a0009c0011t0006	a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0045 others(7): Show a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0007c0008t0001g0045 a0007c0008t0001g0094 a0009c0011t0006g0116	28	364	0.0769	-8	c.-11 others(23): Show c.-11+534_-11+541delCACACACA		BBS12	ENSG00000181004.10	transcript	ENST00000314218.8	protein_coding	1/1				INFO_REALIGN_3_PRIME	chr4	TogoVar
BBS2_chr16_56479385_56525024	56524666	TTTTGTTT others(1): Show TTTTGTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02809.hp1 others(1): Show HG02559.hp1 HG02572.hp2 HG02809.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0158 a0001c0001t0001g0159 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0197	4	398	0.0101	-8	c.-48 others(19): Show c.-4812_-4805delCAAACAAA		BBS2	ENSG00000125124.14	transcript	ENST00000245157.11	protein_coding				4643		chr16	TogoVar
BBS4_chr15_72681207_72743473	72689780	TTTTATTT others(1): Show TTTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG00735.hp1 others(57): Show HG00099.hp2 HG00639.hp2 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02155.hp2 HG02300.hp2 HG02559.hp1 HG02572.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG03942.hp2 NA18522.hp2 NA18939.hp1 NA18948.hp2 NA18965.hp2 NA18968.hp1 NA18970.hp1 NA18994.hp1 NA19000.hp1 NA19011.hp1 NA19057.hp2 NA19078.hp2 NA19086.hp2 NA19088.hp2 NA20752.hp1 NA20752.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0005c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0004t0001 a0002c0002t0001 a0005c0011t0001	a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0039 others(57): Show a0001c0001t0001g0020 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0330 a0001c0001t0001g0338 a0001c0001t0001g0358 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0375 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0382 a0001c0001t0001g0384 a0001c0001t0001g0388 a0001c0001t0001g0389 a0001c0001t0005g0038 a0001c0001t0005g0144 a0001c0001t0006g0385 a0001c0001t0006g0387 a0001c0001t0007g0021 a0001c0001t0007g0042 a0001c0004t0001g0359 a0001c0004t0001g0363 a0001c0004t0001g0365 a0001c0004t0001g0374 a0001c0004t0001g0380 a0001c0004t0001g0381 a0001c0004t0001g0383 a0001c0004t0001g0386 a0002c0002t0001g0158 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0260 a0002c0002t0001g0290 a0005c0011t0001g0040	60	398	0.1508	-8	c.24+ others(23): Show c.24+3569_24+3576delATTTATTT		BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	1/15				INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS4_chr15_72681207_72743473	72725757	TCCCCCTT others(1): Show TCCCCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp1 HG03139.hp1 others(2): Show HG02258.hp1 HG02818.hp1 HG03139.hp1 HG03225.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0049 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051	5	398	0.0126	-8	c.587 others(25): Show c.587+1107_587+1114delCTTCCCCC		BBS4	ENSG00000140463.14	transcript	ENST00000268057.9	protein_coding	8/15				INFO_REALIGN_3_PRIME	chr15	TogoVar
BBS7_chr4_121819329_121875474	121829927	CTTTTAAG others(1): Show CTTTTAAGT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG02809.hp2 others(2): Show HG01891.hp2 HG02280.hp1 HG02809.hp2 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0012 a0001c0001t0001g0160 a0001c0001t0001g0161	5	374	0.0134	-8	c.167 others(27): Show c.1677-1207_1677-1200delACTTAAAA		BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	15/18					chr4	TogoVar
BBS7_chr4_121819329_121875474	121832009	AACACACA others(1): Show AACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG03471.hp1 HG01884.hp2 HG02572.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0075 a0001c0001t0001g0018 a0001c0001t0001g0075	3	374	0.0080	-8	c.167 others(27): Show c.1676+1214_1676+1221delGTGTGTGT		BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	15/18					chr4	TogoVar
BBS7_chr4_121819329_121875474	121855775	AATGTATA others(1): Show AATGTATAC	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG02145.hp2 HG02280.hp2 others(6): Show HG01069.hp2 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG03041.hp1 HG03540.hp2 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0094 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0151 a0001c0001t0001g0191 a0001c0001t0001g0192	9	374	0.0241	-8	c.529 others(23): Show c.529-222_529-215delGTATACAT		BBS7	ENSG00000138686.10	transcript	ENST00000264499.9	protein_coding	5/18					chr4	TogoVar
BBS9_chr7_33124564_33611069	33234699	CCACACAC others(1): Show CCACACACA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01358.hp2 HG02015.hp2 others(16): Show HG00280.hp1 HG01358.hp2 HG02015.hp2 HG02056.hp2 HG02129.hp2 HG03098.hp2 HG03239.hp2 HG03927.hp1 HG04228.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18959.hp1 NA18964.hp1 NA18993.hp2 NA19082.hp2 NA19083.hp2 NA19085.hp2 NA19090.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 others(16): Show a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0002g0190 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0223 a0001c0001t0005g0202 a0001c0001t0005g0218 a0002c0002t0001g0224 a0003c0003t0001g0205 a0003c0003t0001g0207 a0003c0003t0001g0208	19	268	0.0709	-8	c.443 others(27): Show c.443-22526_443-22519delCACACACA		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	5/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33294290	CATCTATC others(1): Show CATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp1 HG00639.hp2 others(48): Show HG00280.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01168.hp2 HG01261.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG02015.hp2 HG02109.hp1 HG02109.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp2 HG02630.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03516.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18944.hp2 NA18951.hp1 NA18954.hp1 NA18957.hp1 NA18961.hp2 NA18964.hp1 NA19005.hp1 NA19010.hp1 NA19030.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp1 NA19240.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0008	a0001c0001 a0001c0010 a0001c0025 others(4): Show a0001c0001 a0001c0010 a0001c0025 a0002c0002 a0003c0003 a0006c0005 a0008c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0010t0001 a0001c0025t0003 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0003c0003t0001 a0006c0005t0007 a0008c0007t0001 a0008c0007t0002	a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0094 others(48): Show a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0001g0234 a0001c0001t0001g0256 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0147 a0001c0001t0002g0172 a0001c0001t0002g0255 a0001c0001t0006g0087 a0001c0001t0008g0233 a0001c0001t0018g0171 a0001c0010t0001g0084 a0001c0010t0001g0167 a0001c0025t0003g0030 a0002c0002t0002g0188 a0002c0002t0003g0003 a0002c0002t0003g0023 a0002c0002t0004g0008 a0002c0002t0004g0033 a0003c0003t0001g0205 a0006c0005t0007g0128 a0006c0005t0007g0139 a0008c0007t0001g0150 a0008c0007t0002g0046	51	268	0.1903	-8	c.101 others(29): Show c.1016+20391_1016+20398delATCTATCT		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33294351	ATCTCTTT others(1): Show ATCTCTTTG	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01358.hp1 HG02602.hp1 others(4): Show HG00609.hp1 HG01358.hp1 HG02602.hp1 HG02809.hp1 NA18949.hp2 NA19030.hp1 NA19090.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0003 a0002c0002t0003 a0002c0002t0004 others(2): Show a0001c0001t0003 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0004c0004t0001	a0001c0001t0003g0027 a0002c0002t0003g0004 a0002c0002t0003g0028 others(4): Show a0001c0001t0003g0027 a0002c0002t0003g0004 a0002c0002t0003g0028 a0002c0002t0004g0013 a0002c0002t0011g0017 a0004c0004t0001g0186 a0004c0004t0001g0187	7	268	0.0261	-8	c.101 others(29): Show c.1016+20398_1016+20405delTCTTTGTC		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	9/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33386455	CATTTATT others(1): Show CATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00738.hp1 others(22): Show HG00280.hp2 HG00544.hp2 HG00738.hp1 HG01261.hp1 HG02257.hp1 HG02602.hp2 HG02615.hp1 HG02723.hp2 HG02735.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03834.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 NA18964.hp1 NA18993.hp1 NA19063.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0010 a0002c0002 others(1): Show a0001c0001 a0001c0010 a0002c0002 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0010t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0017t0001	a0001c0001t0001g0153 a0001c0001t0001g0206 a0001c0001t0001g0242 others(22): Show a0001c0001t0001g0153 a0001c0001t0001g0206 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0002g0247 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0006g0243 a0001c0010t0001g0167 a0002c0002t0001g0130 a0002c0002t0001g0138 a0002c0002t0001g0189 a0002c0002t0002g0123 a0002c0002t0003g0012 a0002c0017t0001g0267	25	268	0.0933	-8	c.196 others(27): Show c.1963-1492_1963-1485delATTTATTT		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	18/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33389687	TAAAAAAA others(1): Show TAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp2 HG00642.hp2 others(37): Show HG00609.hp1 HG00639.hp2 HG00642.hp2 HG01074.hp1 HG01358.hp1 HG01981.hp1 HG02055.hp2 HG02132.hp1 HG02165.hp1 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG03017.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG04199.hp1 NA18949.hp2 NA18955.hp1 NA18961.hp2 NA18980.hp2 NA18982.hp1 NA18995.hp2 NA19000.hp2 NA19005.hp2 NA19012.hp2 NA19083.hp2 NA19087.hp2 NA19090.hp1 NA20300.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0024 a0001c0001 a0002c0002 a0011c0024	a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 others(7): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0011 a0002c0002t0014 a0011c0024t0011	a0001c0001t0003g0027 a0002c0002t0001g0130 a0002c0002t0001g0137 others(37): Show a0001c0001t0003g0027 a0002c0002t0001g0130 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0159 a0002c0002t0001g0179 a0002c0002t0001g0189 a0002c0002t0001g0194 a0002c0002t0001g0224 a0002c0002t0002g0123 a0002c0002t0002g0188 a0002c0002t0003g0003 a0002c0002t0003g0004 a0002c0002t0003g0012 a0002c0002t0003g0018 a0002c0002t0003g0023 a0002c0002t0003g0026 a0002c0002t0003g0028 a0002c0002t0003g0031 a0002c0002t0004g0001 a0002c0002t0004g0002 a0002c0002t0004g0006 a0002c0002t0004g0011 a0002c0002t0004g0013 a0002c0002t0004g0016 a0002c0002t0004g0019 a0002c0002t0004g0022 a0002c0002t0004g0025 a0002c0002t0004g0032 a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 a0002c0002t0005g0192 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0011g0015 a0002c0002t0011g0017 a0002c0002t0014g0005 a0002c0002t0014g0029 a0011c0024t0011g0024	40	268	0.1493	-8	c.211 others(27): Show c.2115+1564_2115+1571delAAAAAAAA		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33411011	GTTTTTTT others(1): Show GTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG02809.hp1 others(4): Show HG02559.hp1 HG02572.hp1 HG02809.hp1 HG02818.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0010 a0004c0004 a0004c0022 a0001c0010 a0004c0004 a0004c0022	a0001c0010t0001 a0004c0004t0001 a0004c0022t0001 a0001c0010t0001 a0004c0004t0001 a0004c0022t0001	a0001c0010t0001g0084 a0004c0004t0001g0182 a0004c0004t0001g0183 others(4): Show a0001c0010t0001g0084 a0004c0004t0001g0182 a0004c0004t0001g0183 a0004c0004t0001g0184 a0004c0004t0001g0186 a0004c0004t0001g0187 a0004c0022t0001g0185	7	268	0.0261	-8	c.211 others(29): Show c.2115+22880_2115+22887delTTTTTTTT		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33450869	TTTTTTTT others(1): Show TTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02486.hp1 others(2): Show HG01109.hp1 HG01891.hp1 HG02486.hp1 HG02922.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0231 a0002c0002t0001g0195 a0002c0002t0001g0196 others(2): Show a0001c0001t0001g0231 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0219	5	268	0.0187	-8	c.211 others(29): Show c.2116-54566_2116-54559delTTTTGTTT		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33492811	AGTGTGTG others(1): Show AGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02922.hp1 others(4): Show HG02486.hp1 HG02615.hp1 HG02922.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0158 others(4): Show a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0158 a0001c0001t0003g0037 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0219	7	268	0.0261	-8	c.211 others(29): Show c.2116-12615_2116-12608delGTGTGTGT		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	19/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33542699	ATGTGTGT others(1): Show ATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02257.hp2 HG02451.hp1 others(4): Show HG00544.hp1 HG02257.hp2 HG02451.hp1 HG02559.hp1 HG02818.hp1 HG03579.hp2 NA19054.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0229 others(4): Show a0001c0001t0001g0089 a0001c0001t0001g0118 a0001c0001t0001g0229 a0001c0001t0002g0111 a0002c0002t0001g0138 a0004c0004t0001g0182 a0004c0004t0001g0183	7	268	0.0261	-8	c.252 others(27): Show c.2521+8549_2521+8556delGTGTGTGT		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33542788	TGTACACA others(1): Show TGTACACAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01496.hp1 HG01516.hp2 others(10): Show HG00733.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02698.hp1 HG02970.hp1 HG03471.hp2 NA18906.hp1 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0012 a0001c0001 a0002c0002 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0002c0002t0001 a0005c0012t0015	a0001c0001t0001g0113 a0001c0001t0001g0169 a0001c0001t0001g0181 others(10): Show a0001c0001t0001g0113 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0230 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0002g0147 a0001c0001t0008g0232 a0001c0001t0012g0212 a0001c0001t0012g0213 a0001c0001t0013g0042 a0002c0002t0001g0179 a0005c0012t0015g0237	13	268	0.0485	-8	c.252 others(27): Show c.2521+8613_2521+8620delGTACACAC		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22					chr7	TogoVar
BBS9_chr7_33124564_33611069	33542790	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02257.hp2 HG02258.hp2 others(12): Show HG01081.hp1 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02698.hp2 HG02818.hp1 HG02976.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 NA18964.hp2 NA18967.hp1 NA20905.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0007	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0005c0011 a0006c0005 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0004c0004t0001 a0005c0011t0001 a0006c0005t0007 a0007c0006t0005	a0001c0001t0001g0070 a0001c0001t0001g0110 a0001c0001t0001g0118 others(12): Show a0001c0001t0001g0070 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0229 a0001c0001t0002g0044 a0001c0001t0002g0134 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0038 a0002c0002t0001g0138 a0004c0004t0001g0182 a0004c0004t0001g0183 a0005c0011t0001g0238 a0006c0005t0007g0128 a0007c0006t0005g0091	15	268	0.0560	-8	c.252 others(27): Show c.2521+8656_2521+8663delCACACACA		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33565781	GTATATAT others(1): Show GTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01517.hp1 HG01891.hp2 others(4): Show HG01243.hp2 HG01517.hp1 HG01891.hp2 NA18960.hp1 NA18961.hp2 NA19056.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0002c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0009 a0002c0002t0003 a0002c0002t0004	a0001c0001t0001g0132 a0001c0001t0001g0175 a0001c0001t0001g0242 others(4): Show a0001c0001t0001g0132 a0001c0001t0001g0175 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0009g0211 a0002c0002t0003g0003 a0002c0002t0004g0008	7	268	0.0261	-8	c.252 others(29): Show c.2521+31644_2521+31651delTATATATA		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
BBS9_chr7_33124564_33611069	33596292	ACACACAC others(1): Show ACACACACT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02602.hp2 HG02976.hp2 others(6): Show HG01261.hp2 HG02602.hp2 HG02976.hp2 HG03669.hp2 HG03834.hp1 HG06807.hp1 NA18946.hp2 NA19083.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0003 a0001c0001t0001 a0001c0001t0003 a0002c0002t0003	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0161 others(6): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0161 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0263 a0001c0001t0003g0036 a0001c0001t0003g0038 a0002c0002t0003g0012	9	268	0.0336	-8	c.252 others(27): Show c.2522-8572_2522-8565delCACACACT		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22					chr7	TogoVar
BBS9_chr7_33124564_33611069	33597069	TCACACAC others(1): Show TCACACACA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02109.hp1 HG02109.hp2 others(16): Show HG01261.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02723.hp1 HG02965.hp1 HG03453.hp2 HG03516.hp1 HG03669.hp2 HG03834.hp1 HG06807.hp1 NA18906.hp2 NA18946.hp2 NA19083.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0002c0017 others(1): Show a0001c0001 a0002c0002 a0002c0017 a0006c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001 a0002c0002t0003 a0002c0017t0001 a0006c0005t0007	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0116 others(16): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0227 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0263 a0001c0001t0003g0036 a0001c0001t0007g0228 a0002c0002t0001g0137 a0002c0002t0003g0012 a0002c0017t0001g0267 a0006c0005t0007g0139	19	268	0.0709	-8	c.252 others(27): Show c.2522-7759_2522-7752delCACACACA		BBS9	ENSG00000122507.21	transcript	ENST00000242067.11	protein_coding	21/22				INFO_REALIGN_3_PRIME	chr7	TogoVar
BBX_chr3_107517962_107816339	107638780	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG01169.hp1 others(29): Show HG00099.hp1 HG01099.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01358.hp2 HG02004.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02257.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03490.hp2 HG03831.hp1 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18906.hp2 NA18942.hp2 NA18994.hp2 NA19088.hp2 NA20129.hp1 NA21309.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0004 a0003c0011 others(1): Show a0001c0001 a0001c0004 a0003c0011 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0021 a0001c0001t0028 a0001c0001t0036 a0001c0001t0046 a0001c0004t0030 a0003c0011t0009 a0006c0010t0001	a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0001t0001g0129 others(29): Show a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0001t0001g0129 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0217 a0001c0001t0002g0048 a0001c0001t0002g0089 a0001c0001t0002g0162 a0001c0001t0002g0189 a0001c0001t0002g0199 a0001c0001t0002g0209 a0001c0001t0003g0084 a0001c0001t0003g0132 a0001c0001t0003g0153 a0001c0001t0004g0071 a0001c0001t0006g0046 a0001c0001t0006g0049 a0001c0001t0006g0096 a0001c0001t0006g0151 a0001c0001t0006g0175 a0001c0001t0006g0188 a0001c0001t0007g0164 a0001c0001t0007g0205 a0001c0001t0011g0185 a0001c0001t0021g0215 a0001c0001t0028g0143 a0001c0001t0036g0174 a0001c0001t0046g0213 a0001c0004t0030g0176 a0003c0011t0009g0156 a0006c0010t0001g0159	32	222	0.1441	-8	c.-83 others(25): Show c.-83-7010_-83-7003delCACACACA		BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	2/17				INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107713967	CTTTTTTT others(1): Show CTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01192.hp2 HG01243.hp2 others(28): Show HG00639.hp1 HG01192.hp2 HG01243.hp2 HG01346.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02055.hp1 HG02257.hp1 HG02293.hp2 HG02451.hp2 HG02630.hp2 HG02818.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG04199.hp1 NA18906.hp1 NA18962.hp1 NA18963.hp1 NA18971.hp2 NA18988.hp2 NA19012.hp1 NA19088.hp1 NA20805.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0019 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0001t0036 a0001c0001t0040 a0001c0001t0043 a0001c0001t0046 a0001c0001t0049 a0007c0009t0007	a0001c0001t0001g0018 a0001c0001t0002g0031 a0001c0001t0002g0048 others(28): Show a0001c0001t0001g0018 a0001c0001t0002g0031 a0001c0001t0002g0048 a0001c0001t0006g0096 a0001c0001t0006g0151 a0001c0001t0006g0175 a0001c0001t0006g0203 a0001c0001t0007g0066 a0001c0001t0007g0067 a0001c0001t0007g0134 a0001c0001t0007g0137 a0001c0001t0007g0164 a0001c0001t0007g0205 a0001c0001t0009g0088 a0001c0001t0009g0146 a0001c0001t0013g0079 a0001c0001t0013g0133 a0001c0001t0013g0163 a0001c0001t0019g0080 a0001c0001t0019g0092 a0001c0001t0021g0101 a0001c0001t0021g0215 a0001c0001t0027g0097 a0001c0001t0028g0143 a0001c0001t0031g0136 a0001c0001t0036g0174 a0001c0001t0040g0081 a0001c0001t0043g0212 a0001c0001t0046g0213 a0001c0001t0049g0085 a0007c0009t0007g0068	31	222	0.1396	-8	c.163 others(25): Show c.163-2621_163-2614delTTTTTTTT		BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	4/17				INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107769169	CATAGATA others(1): Show CATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02602.hp1 HG03688.hp1 others(2): Show HG01243.hp2 HG02602.hp1 HG03688.hp1 HG04228.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 others(1): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0013 a0001c0001t0017	a0001c0001t0003g0094 a0001c0001t0003g0149 a0001c0001t0009g0088 others(2): Show a0001c0001t0003g0094 a0001c0001t0003g0149 a0001c0001t0009g0088 a0001c0001t0013g0133 a0001c0001t0017g0197	5	222	0.0225	-8	c.907 others(25): Show c.907-3405_907-3398delTAGATAGA		BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17				INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107769223	TAGATAGA others(1): Show TAGATAGAC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00733.hp1 HG01081.hp1 others(8): Show HG00140.hp2 HG00733.hp1 HG01081.hp1 HG01255.hp2 HG01346.hp1 HG02071.hp1 HG02074.hp2 HG02145.hp1 HG02818.hp1 HG03704.hp1 NA18975.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0030 a0002c0002t0051	a0001c0001t0001g0111 a0001c0001t0002g0089 a0001c0001t0002g0162 others(8): Show a0001c0001t0001g0111 a0001c0001t0002g0089 a0001c0001t0002g0162 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0145 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0198 a0001c0004t0030g0176 a0002c0002t0051g0056	11	222	0.0496	-8	c.907 others(25): Show c.907-3397_907-3390delCAGATAGA		BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	10/17				INFO_REALIGN_3_PRIME	chr3	TogoVar
BBX_chr3_107517962_107816339	107797337	AATATATA others(1): Show AATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG01975.hp1 others(3): Show HG01884.hp1 HG01891.hp1 HG01975.hp1 HG03041.hp2 HG03139.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0021 a0001c0001t0002 a0001c0001t0020 a0001c0001t0021	a0001c0001t0002g0031 a0001c0001t0002g0048 a0001c0001t0020g0023 others(3): Show a0001c0001t0002g0031 a0001c0001t0002g0048 a0001c0001t0020g0023 a0001c0001t0020g0098 a0001c0001t0021g0101 a0001c0001t0021g0215	6	222	0.0270	-8	c.235 others(27): Show c.2354-1166_2354-1159delTATATATA		BBX	ENSG00000114439.19	transcript	ENST00000325805.13	protein_coding	15/17				INFO_REALIGN_3_PRIME	chr3	TogoVar
BCAN_chr1_156637117_156664528	156643633	CACAGAGA others(1): Show CACAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02135.hp1 NA18940.hp2 others(1): Show HG00423.hp2 HG02135.hp1 NA18940.hp2 NA18948.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0171 a0002c0002t0001g0032 a0002c0002t0001g0170 a0001c0001t0002g0171 a0002c0002t0001g0032 a0002c0002t0001g0170	4	420	0.0095	-8	c.-9+ others(23): Show c.-9+1360_-9+1367delCAGAGAGA		BCAN	ENSG00000132692.19	transcript	ENST00000329117.10	protein_coding	1/13				INFO_REALIGN_3_PRIME	chr1	TogoVar
BCAP29_chr7_107575246_107625478	107594489	TTTTGTTT others(1): Show TTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00733.hp1 others(7): Show HG00099.hp1 HG00280.hp2 HG00733.hp1 HG02004.hp2 HG02109.hp1 HG02486.hp2 HG02647.hp2 HG03491.hp2 HG03669.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0355 a0001c0001t0005g0356 a0001c0001t0005g0357 others(7): Show a0001c0001t0005g0355 a0001c0001t0005g0356 a0001c0001t0005g0357 a0001c0001t0005g0358 a0001c0001t0005g0359 a0001c0001t0005g0360 a0001c0001t0005g0361 a0001c0001t0005g0362 a0001c0001t0005g0363 a0001c0001t0005g0364	10	398	0.0251	-8	c.344 others(23): Show c.344+404_344+411delGTTTGTTT		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	4/7				INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP29_chr7_107575246_107625478	107612391	TTATATAT others(1): Show TTATATATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 HG02257.hp2 others(3): Show HG00738.hp1 HG01433.hp1 HG02257.hp2 HG02280.hp2 HG02965.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0040 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0003g0016	6	398	0.0151	-8	c.590 others(23): Show c.590-899_590-892delATATATAT		BCAP29	ENSG00000075790.12	transcript	ENST00000005259.9	protein_coding	6/7				INFO_REALIGN_3_PRIME	chr7	TogoVar
BCAP31_chrX_153695492_153729387	153720868	TCACCGAT others(1): Show TCACCGATG	T T	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0135 a0002c0002t0001g0135	1	267	0.0038	-8	c.189 others(17): Show c.189_193+3delCATCGGTG	p.Ile others(4): Show p.Ile64fs	BCAP31	ENSG00000185825.17	transcript	ENST00000345046.12	protein_coding	3/8	189/741	63/246			chrX	TogoVar
BCAR1_chr16_75223181_75256624	75234160	GACAGACA others(1): Show GACAGACAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp1 HG01069.hp2 others(9): Show HG00140.hp2 HG00639.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp1 HG02074.hp2 HG03130.hp1 HG03239.hp1 HG03486.hp2 NA18943.hp2 NA18945.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0038 others(2): Show a0001c0001 a0001c0003 a0001c0038 a0003c0007 a0003c0025	a0001c0001t0002 a0001c0003t0002 a0001c0038t0002 others(2): Show a0001c0001t0002 a0001c0003t0002 a0001c0038t0002 a0003c0007t0001 a0003c0025t0002	a0001c0001t0002g0031 a0001c0001t0002g0137 a0001c0003t0002g0011 others(5): Show a0001c0001t0002g0031 a0001c0001t0002g0137 a0001c0003t0002g0011 a0001c0003t0002g0079 a0001c0003t0002g0083 a0001c0038t0002g0084 a0003c0007t0001g0039 a0003c0025t0002g0206	12	392	0.0306	-8	c.201 others(25): Show c.2011-233_2011-226delGTGTCTGT		BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	5/6					chr16	TogoVar
BCAR1_chr16_75223181_75256624	75245964	CTTTTTTT others(1): Show CTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG00609.hp2 others(94): Show HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01255.hp1 HG01257.hp1 HG01261.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp2 HG01981.hp2 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02738.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03195.hp2 HG03471.hp1 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18940.hp1 NA18942.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0012 a0014	a0001c0001 a0001c0003 a0002c0002 others(7): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0002c0005 a0002c0012 a0002c0029 a0004c0009 a0012c0026 a0014c0024	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(14): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0013 a0002c0002t0015 a0002c0002t0018 a0002c0002t0019 a0002c0002t0021 a0002c0004t0001 a0002c0004t0014 a0002c0005t0001 a0002c0012t0001 a0002c0029t0002 a0004c0009t0001 a0012c0026t0001 a0014c0024t0001	a0001c0001t0001g0208 a0001c0003t0001g0272 a0001c0003t0001g0273 others(67): Show a0001c0001t0001g0208 a0001c0003t0001g0272 a0001c0003t0001g0273 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0016 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0042 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0218 a0002c0002t0001g0220 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0237 a0002c0002t0001g0243 a0002c0002t0002g0223 a0002c0002t0002g0224 a0002c0002t0002g0236 a0002c0002t0013g0022 a0002c0002t0015g0052 a0002c0002t0015g0055 a0002c0002t0018g0045 a0002c0002t0019g0058 a0002c0002t0021g0053 a0002c0004t0001g0008 a0002c0004t0001g0049 a0002c0004t0001g0219 a0002c0004t0001g0221 a0002c0004t0001g0222 a0002c0004t0001g0225 a0002c0004t0001g0226 a0002c0004t0001g0227 a0002c0004t0001g0246 a0002c0004t0001g0247 a0002c0004t0001g0251 a0002c0004t0001g0260 a0002c0004t0001g0261 a0002c0004t0001g0262 a0002c0004t0001g0263 a0002c0004t0014g0107 a0002c0004t0014g0108 a0002c0005t0001g0244 a0002c0012t0001g0111 a0002c0029t0002g0245 a0004c0009t0001g0007 a0004c0009t0001g0017 a0012c0026t0001g0046 a0014c0024t0001g0250	97	392	0.2475	-8	c.13- others(23): Show c.13-2882_13-2875delAAAAAAAA		BCAR1	ENSG00000050820.17	transcript	ENST00000162330.10	protein_coding	1/6					chr16	TogoVar
BCAS1_chr20_53938541_54075594	53954294	GGAGAGAG others(1): Show GGAGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG00673.hp1 others(13): Show HG00323.hp1 HG00639.hp2 HG00673.hp1 HG01081.hp2 HG01243.hp1 HG01346.hp1 HG01346.hp2 HG01891.hp1 HG02040.hp2 HG02809.hp2 HG03139.hp1 HG03516.hp2 HG03654.hp1 HG03834.hp1 NA18612.hp2 NA18940.hp1	a0001 a0003 a0005 others(5): Show a0001 a0003 a0005 a0010 a0012 a0015 a0017 a0035	a0001c0001 a0001c0034 a0003c0003 others(6): Show a0001c0001 a0001c0034 a0003c0003 a0005c0005 a0010c0011 a0012c0031 a0015c0015 a0017c0024 a0035c0038	a0001c0001t0030 a0001c0001t0031 a0001c0034t0013 others(8): Show a0001c0001t0030 a0001c0001t0031 a0001c0034t0013 a0003c0003t0028 a0005c0005t0006 a0010c0011t0002 a0010c0011t0020 a0012c0031t0005 a0015c0015t0027 a0017c0024t0010 a0035c0038t0038	a0001c0001t0030g0249 a0001c0001t0030g0250 a0001c0001t0031g0168 others(13): Show a0001c0001t0030g0249 a0001c0001t0030g0250 a0001c0001t0031g0168 a0001c0001t0031g0255 a0001c0034t0013g0010 a0003c0003t0028g0016 a0003c0003t0028g0032 a0005c0005t0006g0121 a0010c0011t0002g0209 a0010c0011t0020g0202 a0010c0011t0020g0208 a0012c0031t0005g0043 a0015c0015t0027g0037 a0017c0024t0010g0236 a0017c0024t0010g0239 a0035c0038t0038g0110	16	364	0.0440	-8	c.155 others(25): Show c.1552-607_1552-600delTCTCTCTC		BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	11/12					chr20	TogoVar
BCAS1_chr20_53938541_54075594	53994888	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00408.hp1 others(27): Show HG00099.hp1 HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01109.hp1 HG01257.hp2 HG01496.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02698.hp1 HG03491.hp1 HG03492.hp1 HG03704.hp1 HG04228.hp2 NA18946.hp2 NA18955.hp1 NA18983.hp1 NA18997.hp1 NA19066.hp2 NA19077.hp1 NA19086.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0016	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0006 a0016c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0049 a0002c0002t0001 a0002c0002t0002 a0002c0002t0021 a0002c0002t0024 a0003c0003t0009 a0006c0006t0012 a0006c0006t0018 a0006c0006t0025 a0006c0006t0026 a0006c0006t0066 a0016c0019t0025 a0016c0019t0033	a0001c0001t0001g0223 a0001c0001t0002g0153 a0001c0001t0002g0169 others(27): Show a0001c0001t0001g0223 a0001c0001t0002g0153 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0174 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0003g0165 a0001c0001t0015g0345 a0001c0001t0049g0338 a0002c0002t0001g0211 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0021g0303 a0002c0002t0024g0132 a0003c0003t0009g0182 a0006c0006t0012g0069 a0006c0006t0012g0178 a0006c0006t0018g0143 a0006c0006t0018g0301 a0006c0006t0018g0302 a0006c0006t0018g0320 a0006c0006t0025g0176 a0006c0006t0026g0042 a0006c0006t0026g0059 a0006c0006t0066g0172 a0016c0019t0025g0089 a0016c0019t0033g0083	30	364	0.0824	-8	c.927 others(23): Show c.927+116_927+123delGTGTGTGT		BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	6/12					chr20	TogoVar
BCAS1_chr20_53938541_54075594	54065113	CATCTATC others(1): Show CATCTATCT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03704.hp2 NA18940.hp2 others(4): Show HG01257.hp2 HG03704.hp2 NA18940.hp2 NA18944.hp2 NA18948.hp1 NA18974.hp1 NA20805.hp1	a0002 a0015 a0002 a0015	a0002c0002 a0015c0015 a0002c0002 a0015c0015	a0002c0002t0001 a0002c0002t0022 a0002c0002t0024 others(2): Show a0002c0002t0001 a0002c0002t0022 a0002c0002t0024 a0002c0002t0063 a0015c0015t0027	a0002c0002t0001g0130 a0002c0002t0001g0133 a0002c0002t0001g0213 others(4): Show a0002c0002t0001g0130 a0002c0002t0001g0133 a0002c0002t0001g0213 a0002c0002t0022g0131 a0002c0002t0024g0132 a0002c0002t0063g0129 a0015c0015t0027g0058	7	364	0.0192	-8	c.-6+ others(23): Show c.-6+5312_-6+5319delAGATAGAT		BCAS1	ENSG00000064787.14	transcript	ENST00000688948.1	protein_coding	1/12					chr20	TogoVar
BCAS2_chr1_114562557_114586615	114578188	CAAAAACA others(1): Show CAAAAACAA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02723.hp2 HG03195.hp2 others(2): Show HG02280.hp1 HG02723.hp2 HG03195.hp2 HG03209.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0024 a0001c0001t0003g0100 a0001c0001t0003g0101	5	414	0.0121	-8	c.187 others(25): Show c.187-1438_187-1431delTTGTTTTT		BCAS2	ENSG00000116752.6	transcript	ENST00000369541.4	protein_coding	2/6					chr1	TogoVar
BCAS3_chr17_60672851_61397831	60676637	TTATGTAT others(1): Show TTATGTATG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02451.hp1 HG02818.hp1 others(9): Show HG00639.hp2 HG02451.hp1 HG02818.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 NA18906.hp2 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0003 others(2): Show a0001c0002 a0001c0004 a0002c0003 a0002c0005 a0003c0001	a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 others(4): Show a0001c0002t0001 a0001c0004t0001 a0001c0004t0002 a0002c0003t0001 a0002c0003t0002 a0002c0005t0001 a0003c0001t0001	a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 others(9): Show a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0004t0001g0034 a0001c0004t0002g0035 a0002c0003t0001g0015 a0002c0003t0001g0033 a0002c0003t0001g0037 a0002c0003t0002g0048 a0002c0005t0001g0073 a0003c0001t0001g0010 a0003c0001t0001g0024	12	74	0.1622	-8	c.-12 others(19): Show c.-1282_-1275delTATGTATG		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding				1213		chr17	TogoVar
BCAS3_chr17_60672851_61397831	60676677	GTATGTAT others(1): Show GTATGTATC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02486.hp1 HG02559.hp2 others(3): Show HG01099.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG03130.hp2 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0002c0005 others(1): Show a0001c0002 a0002c0003 a0002c0005 a0003c0001	a0001c0002t0001 a0001c0002t0002 a0002c0003t0002 others(3): Show a0001c0002t0001 a0001c0002t0002 a0002c0003t0002 a0002c0005t0001 a0003c0001t0001 a0003c0001t0002	a0001c0002t0001g0056 a0001c0002t0002g0054 a0002c0003t0002g0039 others(3): Show a0001c0002t0001g0056 a0001c0002t0002g0054 a0002c0003t0002g0039 a0002c0005t0001g0020 a0003c0001t0001g0025 a0003c0001t0002g0029	6	74	0.0811	-8	c.-12 others(19): Show c.-1242_-1235delTATGTATC		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding				1173		chr17	TogoVar
BCAS3_chr17_60672851_61397831	60676681	GTATCTAT others(1): Show GTATCTATC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG02970.hp1 HG03209.hp2 others(1): Show HG01099.hp2 HG02970.hp1 HG03209.hp2 HG03579.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0004 a0003c0001 a0001c0002 a0001c0004 a0003c0001	a0001c0002t0002 a0001c0004t0001 a0003c0001t0001 a0001c0002t0002 a0001c0004t0001 a0003c0001t0001	a0001c0002t0002g0068 a0001c0004t0001g0049 a0003c0001t0001g0008 others(1): Show a0001c0002t0002g0068 a0001c0004t0001g0049 a0003c0001t0001g0008 a0003c0001t0001g0028	4	74	0.0541	-8	c.-12 others(19): Show c.-1238_-1231delTATCTATC		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding				1169		chr17	TogoVar
BCAS3_chr17_60672851_61397831	60754680	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp1 HG02818.hp1 HG02922.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0005t0001 a0002c0003t0001 a0002c0005t0001	a0002c0003t0001g0033 a0002c0005t0001g0073 a0002c0003t0001g0033 a0002c0005t0001g0073	2	74	0.0270	-8	c.403 others(25): Show c.403+7455_403+7462delCACACACA		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	6/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	60992189	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03041.hp1 NA20300.hp1 HG02897.hp2 HG03041.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0001 a0001c0004t0002 a0002c0003t0002 a0001c0004t0001 a0001c0004t0002 a0002c0003t0002	a0001c0004t0001g0045 a0001c0004t0002g0044 a0002c0003t0002g0048 a0001c0004t0001g0045 a0001c0004t0002g0044 a0002c0003t0002g0048	3	74	0.0405	-8	c.148 others(27): Show c.1486+1989_1486+1996delACACACAC		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	15/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61070366	AATATATA others(1): Show AATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp2 HG01952.hp2 others(13): Show HG01099.hp1 HG01891.hp2 HG01952.hp2 HG02486.hp2 HG02615.hp1 HG02809.hp1 HG02886.hp2 HG02897.hp2 HG03041.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0002c0003 others(4): Show a0001c0002 a0001c0004 a0002c0003 a0002c0005 a0002c0007 a0003c0001 a0004c0009	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(8): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0002c0003t0001 a0002c0003t0002 a0002c0005t0001 a0002c0005t0002 a0002c0007t0001 a0003c0001t0001 a0003c0001t0002 a0004c0009t0001	a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0002g0053 others(13): Show a0001c0002t0001g0042 a0001c0002t0001g0056 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0004t0001g0046 a0001c0004t0001g0058 a0002c0003t0001g0041 a0002c0003t0002g0048 a0002c0005t0001g0014 a0002c0005t0001g0018 a0002c0005t0002g0074 a0002c0007t0001g0004 a0003c0001t0001g0028 a0003c0001t0002g0022 a0004c0009t0001g0055	16	74	0.2162	-8	c.203 others(27): Show c.2030-4527_2030-4520delATATATAT		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	19/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61230142	TACACACA others(1): Show TACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp1 HG01952.hp1 others(9): Show HG01099.hp2 HG01256.hp1 HG01952.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02886.hp1 HG03098.hp2 NA18951.hp1 NA18951.hp2 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0003 others(1): Show a0001c0002 a0001c0004 a0002c0003 a0003c0001	a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 others(3): Show a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 a0002c0003t0003 a0003c0001t0001 a0003c0001t0002	a0001c0002t0001g0059 a0001c0004t0001g0043 a0002c0003t0001g0040 others(9): Show a0001c0002t0001g0059 a0001c0004t0001g0043 a0002c0003t0001g0040 a0002c0003t0003g0013 a0003c0001t0001g0003 a0003c0001t0001g0006 a0003c0001t0001g0008 a0003c0001t0001g0009 a0003c0001t0001g0011 a0003c0001t0001g0012 a0003c0001t0001g0026 a0003c0001t0002g0032	12	74	0.1622	-8	c.242 others(31): Show c.2426-138159_2426-138152delCACACACA		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23				INFO_REALIGN_3_PRIME	chr17	TogoVar
BCAS3_chr17_60672851_61397831	61272636	CAAAAAAA others(1): Show CAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 HG03453.hp1 others(3): Show HG01891.hp2 HG02970.hp2 HG03453.hp1 HG03471.hp1 NA18951.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0003 others(2): Show a0001c0002 a0001c0004 a0002c0003 a0002c0007 a0003c0001	a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 others(2): Show a0001c0002t0001 a0001c0004t0001 a0002c0003t0001 a0002c0007t0001 a0003c0001t0001	a0001c0002t0001g0067 a0001c0004t0001g0043 a0002c0003t0001g0040 others(3): Show a0001c0002t0001g0067 a0001c0004t0001g0043 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0007t0001g0004 a0003c0001t0001g0024	6	74	0.0811	-8	c.242 others(29): Show c.2426-95667_2426-95660delAAAAAAAA		BCAS3	ENSG00000141376.24	transcript	ENST00000407086.8	protein_coding	22/23				INFO_REALIGN_3_PRIME	chr17	TogoVar

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